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_1500
|
The variant affects gene GJA8 (gap junction protein alpha 8), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Cataract 1 multiple types
|
TGCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGAT
|
TGCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCATGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGAT
|
Task1_train_1501
|
Mutation context: Chromosome 1, Gene GJA8 (gap junction protein alpha 8). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Inborn genetic diseases
|
TGCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGAT
|
TGCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCATGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGAT
|
Task1_train_1502
|
Gene GJA8 (gap junction protein alpha 8) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Cataract 1 multiple types
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GCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATT
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GCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGAGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATT
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Task1_train_1503
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This mutation occurs in GJA8 (gap junction protein alpha 8) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Cataract 1 multiple types
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TGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACA
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TGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTCGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACA
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Task1_train_1504
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Given this context: Chromosome 1, gene GJA8 (gap junction protein alpha 8) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Cataract 1 multiple types
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TGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACA
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TGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTTGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACA
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Task1_train_1505
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This sequence variant lies in GJA8 (gap junction protein alpha 8) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Cataract 1 multiple types
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GCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAG
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GCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGTGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAG
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Task1_train_1506
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This alteration occurs within gene GJA8 (gap junction protein alpha 8) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Cataract 1 multiple types
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TTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGT
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TTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGAATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGT
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Task1_train_1507
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The gene GJA8 (gap junction protein alpha 8) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Cataract 1 multiple types
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TTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGT
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TTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGCATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGT
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Task1_train_1508
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Gene GJA8 (gap junction protein alpha 8) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Cataract 1 multiple types
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GTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATG
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GTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATAAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATG
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Task1_train_1509
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Here is a mutation in GJA8 (gap junction protein alpha 8) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Cataract 1 multiple types
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CACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGC
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CACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCAACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGC
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Task1_train_1510
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A genomic change on Chromosome 1 affects GJA8 (gap junction protein alpha 8). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Cataract 1 multiple types
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CCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCT
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CCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGAGTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCT
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Task1_train_1511
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A variant was discovered in gene GJA8 (gap junction protein alpha 8), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Cataract 1 multiple types
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CAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAA
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CAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCTTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAA
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Task1_train_1512
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A variant was discovered on Chromosome 1, affecting GJA8 (gap junction protein alpha 8). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Cataract 1 multiple types
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GCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTA
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GCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTGCGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTA
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Task1_train_1513
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Gene GJA8 (gap junction protein alpha 8), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Cataract 1 multiple types
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TTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACA
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TTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTTGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACA
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Task1_train_1514
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This is a variant in GJA8 (gap junction protein alpha 8), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Cataract 1 multiple types
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TAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACAT
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TAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCACCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACAT
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Task1_train_1515
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This gene mutation involves GJA8 (gap junction protein alpha 8) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Cataract 1 multiple types
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GTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAA
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GTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCGCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAA
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Task1_train_1516
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Here is a mutation in GJA8 (gap junction protein alpha 8) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Cataract 1 multiple types
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GTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAA
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GTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCTCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAA
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Task1_train_1517
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This variant affects gene GJA8 (gap junction protein alpha 8) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Cataract 1 multiple types
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GGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTG
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GGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAACAACTGTTCTCCATTGAGGTGGAAGTTTTGCTCATCATTCTTTATAGGTTACAGGTTTGCACTGGATGAATGACCCAGTTGCAGCCAGCCCCTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGAGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTG
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Task1_train_1518
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Gene GJA8 (gap junction protein alpha 8), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Cataract 1 multiple types
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CTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATAT
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CTTGTCAGCTCAATGCCATTTCCATTAGCCATTGCTGTGCTACAGGCATTATATACTATCATGTTTAACGATATTTTTTCTATAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTAAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATAT
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Task1_train_1519
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Given a variant located on Chromosome 1 and affecting GJA8 (gap junction protein alpha 8), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Cataract 1 multiple types
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TAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAA
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TAGACCAAATTTTTGACTCTATTAAAACAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCTCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAA
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Task1_train_1520
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This sequence change occurs on Chromosome 1, altering GJA8 (gap junction protein alpha 8). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Cataract 1 multiple types
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CAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTT
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CAGCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCAGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTT
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Task1_train_1521
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The variant affects gene GJA8 (gap junction protein alpha 8), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Cataract 1 multiple types
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GCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTT
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GCCATATGTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGTCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTT
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Task1_train_1522
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Gene GJA8 (gap junction protein alpha 8) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Cataract 1 multiple types
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GTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTTTCCTGAA
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GTTACAGACCCTGAAACATTTTCATTCCATAGGACACTAAAAGTGTCCTAGAAGACCTTCCTCATCCTGTGACATGATTCCTTCCCAAAGCATTCTCTCTGTTCTTTGGATTTAAAAGAGTAATAATAAAAATATACGGCCCTCAATGTGTAAAGCTATTAATAAGGGTTTCCAGATTTCAACCTAGAGAAGAGGAAACATAAATTAAGAGCACAGAAGTCAAAGAATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGGGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTTTCCTGAA
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Task1_train_1523
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Mutation context: Chromosome 1, Gene GJA8 (gap junction protein alpha 8). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Cataract 1 multiple types
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AATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTTTCCTGAAGCAAAGAAGATCCTTTCTTTATTCCCCTCTTGCAGCATCAGTGCTCAGCCTAAAATCTATACCTTTTTTCACTAGTGACTAGAAGCAAGCCCAGTTTCGAGCTGGAGGACATCTGCTCACAGGCATGTCCTGGGAAGAGGCAGCTCTCAGACATGATCAAAGGGCCATCAGGGTGGCACCAGAGGGAGCCTCTCACAAAGTGGGTGCTCACACAGCCAGGATCCC
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AATTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTTCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTTTCCTGAAGCAAAGAAGATCCTTTCTTTATTCCCCTCTTGCAGCATCAGTGCTCAGCCTAAAATCTATACCTTTTTTCACTAGTGACTAGAAGCAAGCCCAGTTTCGAGCTGGAGGACATCTGCTCACAGGCATGTCCTGGGAAGAGGCAGCTCTCAGACATGATCAAAGGGCCATCAGGGTGGCACCAGAGGGAGCCTCTCACAAAGTGGGTGCTCACACAGCCAGGATCCC
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Task1_train_1524
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This variant affects gene GJA8 (gap junction protein alpha 8) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Cataract 1 multiple types
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TTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTTTCCTGAAGCAAAGAAGATCCTTTCTTTATTCCCCTCTTGCAGCATCAGTGCTCAGCCTAAAATCTATACCTTTTTTCACTAGTGACTAGAAGCAAGCCCAGTTTCGAGCTGGAGGACATCTGCTCACAGGCATGTCCTGGGAAGAGGCAGCTCTCAGACATGATCAAAGGGCCATCAGGGTGGCACCAGAGGGAGCCTCTCACAAAGTGGGTGCTCACACAGCCAGGATCCCAA
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TTGTGTAGCTTTGATTGCAGGCAGTTTATCTCAATGGTGTAGTGGGAAGAACCCAGCCTTTGTGATCAAGCAAACAGAACTGCTGCTATTTAGCTGTCTAATCTTGGACAATATATTTAGCCTCTCTGAGCCTCAGATTTCTTTTTTCTTTTTTTTCTTTTTCCTTTGAGACAGGGTCTTTCTCTGTTGCCCAGGATGGAGTATAGTGGCACATATCAGGGTTCACTGCAACCTCGACCTCCCAGGCTCAAGCAATCTTCCTGGCTCAGCCTCCCAAGTAGCTGGGAACACAGGCATGCACCACCGAGCCCAGCTAGTTTTTAAAGTTTTTTGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTAGTCTCTATCTCCTGGGCTCAAGTGATTCTCTTGCCCTGGCCTCCCAAAGTTCTAGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAGTTTTCTTATTTGTTGGAATCAACTTAGTTAACAAATACTTATCAAGTTCTCACTGTGTGCTGGGCTGTATGTCAGGCATTGAGTATATAGCTGTAAATAAGACAGGCATGGCTCCTACCGTCATGGAAATTACAGTCTAGCAGGATCAAGTTAAATGAAATAATATAATGTCAAAGTTCTTTCACAAAGTTGGTATTCAATAAATGCTAATCCCCTTCCACTTCCCTTCAAATATACGATCATTATATATTCTGACACTCAAACATAAGATGGCCACAGACAATTTCATACATACAAGAATTGTGTTGGGAGCCCAGACACCCATAGTATAAGGGAACTCTTCAGCATTATGTCTCACGAAACTTAGATCAGTGTGTGGTCTTGATTTAAATCCATGTAACCAAGGGTTTCTATTTATGGTCAACAATGAATCCTTATTTTTGGTGGACTTTAAGGAATTATACAAATATTGCCTCATTGATGCTTTCAGACCATTTGTGAAGTGAATGAGAATAGGTATTATTATTATTAAACCCATTTTACAGATGAGGAAGCGGATGGAAGCACATTCTTCGGGGCCTTCTTTGTTCTCTAGTCCTAGTCTGCACAAAGGAAGCACTGGATAGACGCTGTGTGCACATTGACCGTTCTGGCAACTTGGAAAGGAGAGGTACCCCGCGTTAGCAAAAACAGATATTGACTCAGGGTTGCATTGCGGCCGCTCAGCTCTTGCCTTCTCCCTCATTTCTTCAGGTGGGTGAGAAATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCCGCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGCTGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTGCAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTCCGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACTAACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAGTTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTCTTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTGTACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACGGAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAACGTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTAGAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATCCAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCTACTATTTCCCCTTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTCGAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTGCCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAGGGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAGCAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAGGGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAGACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGCAAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGAAGTGACGCCAAAGAAAAAAAAAAAAACGCCCAAGCTTACGTAGGGCAAGATGAAAGGAACAGGTGCCAACATGATCTGAATCTTCTGTCTCCTGTCCTCCCACCAGCCTCTGGTTGGACAGGCACTGCAGCAGGGCAGTGCACTCCAGGCAACTCTAGGAAACAGTCTTTCCCACATCCAGCATAAGGGCTACCAAGATAAACCCATCGACCCACTAAAGTTCCCCAGTCTCATAGGACTACCCCGCTCCTCCAACCCCAGCAGCTATGGGTGACTCTTCTTTCATCCCCATTTCTCCATAGAAACCCTTAAATCGGAATTGGGGTTGCCTCATAGCCTTTTACCCATCTTGTCTCAAGCTCACTAAGCCAGAATCTATCATCCCAGCATTTCTGAAGCAGATACCATGTGACCATATTTCAGGGATCCAGACTCAAAAGCCTACAGAATACAGACAGGTGACATAAGTTGCAAGACAGGCCTGTTCTAATGCAAGGGAGAGAATGGGGCTGTGAAAGTTGGAAAGCAGGGGCAGCTGCTGCTCACTTCCAGACAATGAGTACCATGAAGTGTTACCTGGTCTTTCTGATTTTTCAAGGGAAGCCAGAAATCCAACCTTTTTTTTAGACAGGCTCTCTCTTGCCCAGGCTGGGGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCAACCTCCCAAGCTCAAGTGATCCTCTCACCTTAGCCTCCCAAGTAGCTGGGACTATAGGCGCACACCACCACACCCGGCTAATTTTTGTATTTTTTGTACAGATGGCGTTTCACCATGTTGCCTAGGCTGATCTCAAACTCCTGGGTTCAAGTGATCCACCCACCTCAGCCTCCTATAATGCTGGGATTACAGGTGTATGCCACCGTGCCTGGCCCATGAAATCTAAATTTTAATTGAAATTTTCAAAATTGTTAATGTTGGCAACTAAATTTTAAATACAACATGTGGACCAAATGAAATATGTGCAAGCCACATTTAACCTGTGAGGCACCAATTTGCAATATCAGCTTATGCTAATTAGCCCAGCTTTCCTATGGAATCGGTCTTATTATTTATGGTCTCAACTTGTTTCTGTGGCTCCTAAACCTTATTTCACTACTTTGGAGTGTTTTGTTTAAATCATCAGTCCAGGAGATACCTAAAGTTCTCACTGACCATTCTTTTGGCTCATTGTAGCCCCTGGGTTCTGAAGCAATGATATGCTTTGTATTGGTGGGAATTCTGCCCTGGGTACCATCAGAGAAAGAGAGCAAGTTGCCAAAACTCTCTCTGTGAAATCAAAAGGCTTTGAGGCCTGGTTGTAGTTTGTTTTTCCTGAAGCAAAGAAGATCCTTTCTTTATTCCCCTCTTGCAGCATCAGTGCTCAGCCTAAAATCTATACCTTTTTTCACTAGTGACTAGAAGCAAGCCCAGTTTCGAGCTGGAGGACATCTGCTCACAGGCATGTCCTGGGAAGAGGCAGCTCTCAGACATGATCAAAGGGCCATCAGGGTGGCACCAGAGGGAGCCTCTCACAAAGTGGGTGCTCACACAGCCAGGATCCCAA
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Task1_train_1525
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Given this context: Chromosome 1, gene PDE4DIP (phosphodiesterase 4D interacting protein) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; See cases
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AACTCTCAGAGATGGCATTTGGATGTCTTCAGGCTTAGGAGTATGGACTCTGTCCTGGGGATGAGGTTCAGAAAAACTTAGATGTTGCTGGCCTTAGCTTACAAGGTCAAGTTAGTAAAAATTTAGCATGATTAGAACTGGGAAATGTCCTGCTCTAGGGGACTGCAAGTGATTGCTGAGGTTGTTCCTCTTGTTACGTGTCTGAATGCCTCTCAAGCCAGGAAGATAATTCCTTATTAAAAATGGCCGGAGGTACCAGCATTCTACCTAGTCAGGGCTCCAGCTTCCCTCCTCTTTGTGTGCAATCTAAGTTTTGGACCCAAGGGTGGAGGACCTATCACTGTACAATGCTGAGTAAGACATGGTTTTCACCGAAGTCAGTGAAGTTCCCAGTCCTTTCTGGCGCGAGCTGCATTCCCAGACACTCCAGCTCTTACGGAAAGAAGCACTGTCTTTTGCGCTAGTGTTTGTCTACCGTCCCCTGTCCTAAAATAATGACTGCCCTCTACCTGAGGGAAAGGGACTTCAATGGTGGTAATCTACTCGCGGCTGGCTGCATCCTTAAAAAAGCCCATTTCTCTTCTACTATCTTCAAGATCTTGGTTAACCAGATTCACATTGTATGTGCCGGACTCTTTCTCAGGTGACTGCTCTGTGCTTTTTTATCTAAAGAAGGGCAAGTCACCCACGGGTACTAACCCTCCCCCACCCACATCAAGGGAGAAACACTCCTCTACTCTTTTCTGGACATTCCTGTTCAGAGTCGAGGTAAGGGTTGCACGGCCCCGCCCCTCCGTTACCAAGCCTTCCCTCGCCTGCCTCGCAGCCTCAGGCCCTTAGAACCCAGGCGGGGCGGGGCCGGGAAAGGTGAGGCTGCTGGCGGGAAGCGGGGGCGGCGCGCAGCGGTACCTAGCGGCGCTGCCCCGCTGGCAGCCGGAGGACGTGGCACTGTCCGAGAATGCAGGGAGGGGATTCGTCTTTCTCCTCCCCGCGAGGAGGAGCCTCGACATCCTGCAGAGGCGGGAGGATCCTTGAGGGCACTGGTGCGACTTTCAGGTGAGGTCTTAGCAGATGAAAGCGGCTGGCTGTGGCCCGCGCCAGTAGTGCTTTCTGCTCCGCACTCGCCGTGAGCCAGGTGTGCAACCGGATTTGGGGCGAGGGTCGCGCTGGCTACCTCGCATGCGCAGAGCCGGAAGCCCGCTGACCGGACTACAGCTCCCAGAAGAGCCTTGTGGAGGCCGCAGACGCGAAGCCGCTGGCGCCATCTTGAAATCTGATCCTCCATCCCCGAGGCTTTGCGTCTGCGCGGCCGGCCGCTGCTGCTCCGGGAGCCCAGTCTGCTAAAAGGGGAGGACGTTGAGGACGCGGCGGCTGGCGGGAGAGACAGCTGGGGAGAGACATGGCAGGGTCGGAGCGCGGCCTGCGCCTCTGTCACTCAGCATCCTCTTAGGCGTTTCCACGCCCGCCCCCTGCCCGAGGGGCGGGGCTGACGGCTCTGGTACCCGGAGTCGGCGCGCGGGGCAGGGGCGCGCCCCTGCAGAGTGGGGACCCCACTGGGCTGTGCCATGCTGACCGGAGACCACCGAGGCGGGAGACAGAGCGCGGCGAAGAGCCATTGAGTGGTCACCCAGTAGCCGCCGCCGCCGCCGCCTCGGGAAGCTTGCCACCCGCTAGGAGGGAAGATGAAGGAGATTTGCAGGATCTGTGCCCGAGAGCTGTGTGGAAACCAGCGGCGCTGGATCTTCCACACGGCGTCCAAGCTCAATCTCCAGGTTCTGCTTTCGCACGTCTTGGGCAAGGATGTCCCCCGCGATGGCAAAGCCGAGTTCGCTTGCAGCAAGTGTGCTTTCATGCTTGATCGAATCTATCGATTCGACACAGTTATTGCCCGGATTGAAGCGCTTTCTATTGAGCGCTTGCAAAAGCTGCTACTGGAGAAGGATCGCCTCAAGTTCTGCATTGCCAGTATGTATCGGAAGAATAACGATGACTCTGGCGCGGAGATCAAGGCGGGGAATGGGACGGTTGACATGTCCGTCTTACCCGATGCGAGATACTCTGCACTGCTCCAGGAGGACTTCGCCTATTCAGGGTTTGAGTGCTGGGTGGAGAATGAGGATCAGATCCAGGAGCCACACAGCTGCCATGGTTCAGAAGGCCCTGGAAACCGACCCAGGAGATGCCGTGGTTGTGCCGCTTTGCGGGTTGCTGATTCTGACTATGAAGCCATTTGTAAGGTACCTCGAAAGGTGGCCAGAAGTATCTCCTGCGGCCCTTCTAGCAGGTGGTCGACCAGCATTTGCACTGAAGAACCAGCGTTGTCTGAGGTTGGGCCACCCGACTTAGCAAGCACAAAGGTACCCCCAGATGGAGAAAGCATGGAGGAAGAGACGCCTGGTTCCTCTGTGGAATCTTTGGATGCAAGCGTCCAGGCTAGCCCTCCACAACAGAAAGATGAGGAGACTGAGAGAAGTGCAAAGGAACTTGGAAAGTGTGACTGTTGTTCAGATGATCAGGCTCCGCAGCATGGGTGTAATCACAAGCTGGAATTAGCTCTTAGCATGATTAAAGGTCTTGATTATAAGCCCATCCAGAGCCCCCGAGGGAGCAGGCTTCCGATTCCAGTGAAATCCAGCCTACCTGGAGCCAAGCCTGGCCCTAGCATGACAGATGGAGTTAGTTCCGGTTTCCTTAACAGGTCTTTGAAACCCCTTTACAAGACACCTGTGAGTTATCCCTTGGAGCTTTCAGACCTGCAGGAGCTGTGGGATGATCTCTGTGAAGATTATTTGCCGCTCCGGGTCCAGGTATACAAAACGGCTACATAGTGCCTTTCTGATTATAGCTAGCTGGCCTCTGGCTTCACGTGATTTCGGTCTAGGTGGAGGTTAGAAATATTCTGGACTTGAGAAAATTAGTCATGACCCCATTTTTGCTGCACCTTTTGCTCTGTCTCATTTAGTAAACGTGATTTGCACTCAGATAATTTGATTTTCACAATCCTTTTTGTAAAATCTGTTGACTTTCCCATTATCAAAATTGTATACCTTTTAAAACAAAAAGGTAAAGATTCCTACTTCACTTTTTTCCTATAAAAAGAAGACATTTAATCTCATTTCTGGCACTAGAACTTTTCCTCTTACCTCTTTTTTTTTTCCAACTTTTAAAATTTGTTCTTGTTTTCAGATTTATAGACGTTTCCTCCCAATGGTTTTCTGTAAGGCAGTTAGTTCTCTAGTTAGTTCTTCCTGGAGCATTAAAGCCTTCATCCGCAAAATGCCTGTAAATGATTAGAGCATAAGGTAAAAGGTTTGGGGAAAGCCTATTAATCCACCAGTAAAGTATTATAACATCTGGACCATATTAATTAGAATTAATAGTTCATTTGAGGATTAGTGATGACTCATTCATAAAAGAGACAGGAATTCAAGTATTCAAGTACAGTATTGTCAGTCAAAAGATTAAGGCATAAACTGTTCACAGCCAGAACTCTACTGAGTTCTACTGGAAGATATTTGATATTAAGAAAGGATTAACCCATTATTGGATCAGAGGAGAGTTTCATTCATTATAGTCTTGAATTCTTAATTGCTTAATTTGAGCTATTCGTGTCTGCCCAATTGATTCTGTACCAACCTTTTAAATTCAACTATGGTAGTTTGTTTCTATAGCAACAGTAAATGCTAGCTTCAATAAACTTTGTGAAACATTCTGGCATGTTCCACTTGATACAACTTATTTAACAATACTGTCACAAAGGTAGATGTGATCTAGAAGGCATTTTTTAGAAAGCCTGCTACTGGTCAACGTCATTCCAGAAATTTAGAGCTTGATAAGTGACATTGTTGATGGCCACTTGAAATTTTTGGAAAGTAGTTCTATGGTATGTATACTGTCTATCACAATAAGAACCTAAGCAGAAAACAGGAGAAAAGTTTTTAAATTTACACAAAATTATGAGAAGCAGCATAGATGAGAAACAGCATAGATGAAAGTGTCATGAAAGGTAAAAAGTCAGTGCATTTTCATTTTGTATAAAATGTTAAGCACTGTATGCTTAACACTGTGTACTTCTTTTCTTTTGCTTTTTCTTTCA
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AACTCTCAGAGATGGCATTTGGATGTCTTCAGGCTTAGGAGTATGGACTCTGTCCTGGGGATGAGGTTCAGAAAAACTTAGATGTTGCTGGCCTTAGCTTACAAGGTCAAGTTAGTAAAAATTTAGCATGATTAGAACTGGGAAATGTCCTGCTCTAGGGGACTGCAAGTGATTGCTGAGGTTGTTCCTCTTGTTACGTGTCTGAATGCCTCTCAAGCCAGGAAGATAATTCCTTATTAAAAATGGCCGGAGGTACCAGCATTCTACCTAGTCAGGGCTCCAGCTTCCCTCCTCTTTGTGTGCAATCTAAGTTTTGGACCCAAGGGTGGAGGACCTATCACTGTACAATGCTGAGTAAGACATGGTTTTCACCGAAGTCAGTGAAGTTCCCAGTCCTTTCTGGCGCGAGCTGCATTCCCAGACACTCCAGCTCTTACGGAAAGAAGCACTGTCTTTTGCGCTAGTGTTTGTCTACCGTCCCCTGTCCTAAAATAATGACTGCCCTCTACCTGAGGGAAAGGGACTTCAATGGTGGTAATCTACTCGCGGCTGGCTGCATCCTTAAAAAAGCCCATTTCTCTTCTACTATCTTCAAGATCTTGGTTAACCAGATTCACATTGTATGTGCCGGACTCTTTCTCAGGTGACTGCTCTGTGCTTTTTTATCTAAAGAAGGGCAAGTCACCCACGGGTACTAACCCTCCCCCACCCACATCAAGGGAGAAACACTCCTCTACTCTTTTCTGGACATTCCTGTTCAGAGTCGAGGTAAGGGTTGCACGGCCCCGCCCCTCCGTTACCAAGCCTTCCCTCGCCTGCCTCGCAGCCTCAGGCCCTTAGAACCCAGGCGGGGCGGGGCCGGGAAAGGTGAGGCTGCTGGCGGGAAGCGGGGGCGGCGCGCAGCGGTACCTAGCGGCGCTGCCCCGCTGGCAGCCGGAGGACGTGGCACTGTCCGAGAATGCAGGGAGGGGATTCGTCTTTCTCCTCCCCGCGAGGAGGAGCCTCGACATCCTGCAGAGGCGGGAGGATCCTTGAGGGCACTGGTGCGACTTTCAGGTGAGGTCTTAGCAGATGAAAGCGGCTGGCTGTGGCCCGCGCCAGTAGTGCTTTCTGCTCCGCACTCGCCGTGAGCCAGGTGTGCAACCGGATTTGGGGCGAGGGTCGCGCTGGCTACCTCGCATGCGCAGAGCCGGAAGCCCGCTGACCGGACTACAGCTCCCAGAAGAGCCTTGTGGAGGCCGCAGACGCGAAGCCGCTGGCGCCATCTTGAAATCTGATCCTCCATCCCCGAGGCTTTGCGTCTGCGCGGCCGGCCGCTGCTGCTCCGGGAGCCCAGTCTGCTAAAAGGGGAGGACGTTGAGGACGCGGCGGCTGGCGGGAGAGACAGCTGGGGAGAGACATGGCAGGGTCGGAGCGCGGCCTGCGCCTCTGTCACTCAGCATCCTCTTAGGCGTTTCCACGCCCGCCCCCTGCCCGAGGGGCGGGGCTGACGGCTCTGGTACCCGGAGTCGGCGCGCGGGGCAGGGGCGCGCCCCTGCAGAGTGGGGACCCCACTGGGCTGTGCCATGCTGACCGGAGACCACCGAGGCGGGAGACAGAGCGCGGCGAAGAGCCATTGAGTGGTCACCCAGTAGCCGCCGCCGCCGCCGCCTCGGGAAGCTTGCCACCCGCTAGGAGGGAAGATGAAGGAGATTTGCAGGATCTGTGCCCGAGAGCTGTGTGGAAACCAGCGGCGCTGGATCTTCCACACGGCGTCCAAGCTCAATCTCCAGGTTCTGCTTTCGCACGTCTTGGGCAAGGATGTCCCCCGCGATGGCAAAGCCGAGTTCGCTTGCAGCAAGTGTGCTTTCATGCTTGATCGAATCTATCGATTCGACACAGTTATTGCCCGGATTGAAGCGCTTTCTATTGAGCGCTTGCAAAAGCTGCTACTGGAGAAGGATCGCCTCAAGTTCTGCATTGCCAGTATGTATCGGAAGAATAACGATGACTCTGGCGCGGAGATCAAGGCGGGGAATGGGACGGTTGACATGTCCGTCTTACCCGATACGAGATACTCTGCACTGCTCCAGGAGGACTTCGCCTATTCAGGGTTTGAGTGCTGGGTGGAGAATGAGGATCAGATCCAGGAGCCACACAGCTGCCATGGTTCAGAAGGCCCTGGAAACCGACCCAGGAGATGCCGTGGTTGTGCCGCTTTGCGGGTTGCTGATTCTGACTATGAAGCCATTTGTAAGGTACCTCGAAAGGTGGCCAGAAGTATCTCCTGCGGCCCTTCTAGCAGGTGGTCGACCAGCATTTGCACTGAAGAACCAGCGTTGTCTGAGGTTGGGCCACCCGACTTAGCAAGCACAAAGGTACCCCCAGATGGAGAAAGCATGGAGGAAGAGACGCCTGGTTCCTCTGTGGAATCTTTGGATGCAAGCGTCCAGGCTAGCCCTCCACAACAGAAAGATGAGGAGACTGAGAGAAGTGCAAAGGAACTTGGAAAGTGTGACTGTTGTTCAGATGATCAGGCTCCGCAGCATGGGTGTAATCACAAGCTGGAATTAGCTCTTAGCATGATTAAAGGTCTTGATTATAAGCCCATCCAGAGCCCCCGAGGGAGCAGGCTTCCGATTCCAGTGAAATCCAGCCTACCTGGAGCCAAGCCTGGCCCTAGCATGACAGATGGAGTTAGTTCCGGTTTCCTTAACAGGTCTTTGAAACCCCTTTACAAGACACCTGTGAGTTATCCCTTGGAGCTTTCAGACCTGCAGGAGCTGTGGGATGATCTCTGTGAAGATTATTTGCCGCTCCGGGTCCAGGTATACAAAACGGCTACATAGTGCCTTTCTGATTATAGCTAGCTGGCCTCTGGCTTCACGTGATTTCGGTCTAGGTGGAGGTTAGAAATATTCTGGACTTGAGAAAATTAGTCATGACCCCATTTTTGCTGCACCTTTTGCTCTGTCTCATTTAGTAAACGTGATTTGCACTCAGATAATTTGATTTTCACAATCCTTTTTGTAAAATCTGTTGACTTTCCCATTATCAAAATTGTATACCTTTTAAAACAAAAAGGTAAAGATTCCTACTTCACTTTTTTCCTATAAAAAGAAGACATTTAATCTCATTTCTGGCACTAGAACTTTTCCTCTTACCTCTTTTTTTTTTCCAACTTTTAAAATTTGTTCTTGTTTTCAGATTTATAGACGTTTCCTCCCAATGGTTTTCTGTAAGGCAGTTAGTTCTCTAGTTAGTTCTTCCTGGAGCATTAAAGCCTTCATCCGCAAAATGCCTGTAAATGATTAGAGCATAAGGTAAAAGGTTTGGGGAAAGCCTATTAATCCACCAGTAAAGTATTATAACATCTGGACCATATTAATTAGAATTAATAGTTCATTTGAGGATTAGTGATGACTCATTCATAAAAGAGACAGGAATTCAAGTATTCAAGTACAGTATTGTCAGTCAAAAGATTAAGGCATAAACTGTTCACAGCCAGAACTCTACTGAGTTCTACTGGAAGATATTTGATATTAAGAAAGGATTAACCCATTATTGGATCAGAGGAGAGTTTCATTCATTATAGTCTTGAATTCTTAATTGCTTAATTTGAGCTATTCGTGTCTGCCCAATTGATTCTGTACCAACCTTTTAAATTCAACTATGGTAGTTTGTTTCTATAGCAACAGTAAATGCTAGCTTCAATAAACTTTGTGAAACATTCTGGCATGTTCCACTTGATACAACTTATTTAACAATACTGTCACAAAGGTAGATGTGATCTAGAAGGCATTTTTTAGAAAGCCTGCTACTGGTCAACGTCATTCCAGAAATTTAGAGCTTGATAAGTGACATTGTTGATGGCCACTTGAAATTTTTGGAAAGTAGTTCTATGGTATGTATACTGTCTATCACAATAAGAACCTAAGCAGAAAACAGGAGAAAAGTTTTTAAATTTACACAAAATTATGAGAAGCAGCATAGATGAGAAACAGCATAGATGAAAGTGTCATGAAAGGTAAAAAGTCAGTGCATTTTCATTTTGTATAAAATGTTAAGCACTGTATGCTTAACACTGTGTACTTCTTTTCTTTTGCTTTTTCTTTCA
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Task1_train_1526
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This variant impacts the gene LOC129931382, SF3B4 (ATAC-STARR-seq lymphoblastoid active region 1665| splicing factor 3b subunit 4) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Nager syndrome
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TAGAATGTCTGAAGGAAAGGAAAACTCTGAAACTGTTACTGTTGAGGAACAAAGGGCAGCAGGGTGAGTGGTAACAGAGATGCTCTACCAAGCTCTTCCCTCCCTTTCCCAACAAAGCACACCTACCTGGATGGGGCATCCCACCCGGTGGGAATGGGTGAGGATGTGAGTGTCCATGACCAGGATGTCCTGCCCCTGGGGTTCCTGCCGATGGGGGGCCATGTCCTGCAGCCCCAGGAGGCATAGGTGGTGGGGGCATGGCTGGGGGTATCCCAGGTGGGAGGGCTCCAGGAGGTGGCACTGGGGGTGGGAAGGAGCCAGGAGGAGGCATGCCTATAGAGGAAATGGAAAAAGGAAGAGTTAATGGTAGTGAGGAGAAAATGTCTTTAAAGAGCCTGTCCTGATCTGGCCTCTCCAGGCAGGGTGAGCTCTTTCCCCCTCCTCCCAGTGCTCTAAAATCAAAAGCAATGTTAGAAAAGTCAACCAACTTCACCCTCCTAAAGAAACCCAACAACTTTCTTCTTCACCACTACCATCACCCCTCAGTCCTCTTCCCATCAACTCACTGACTCAATGTCCCCTGTCCCCCTTTCAGACTTGTTTTCTTCTTCCTCCTGACCCTCTCCCCCAACCTTAAGACAAACATATTTTAACCAAAAGCTTTACCTGGTGGAGGAAGCCCAGACCCCAATGATGATACCACAGGATTGGGAGCAGAGGGTGGAGGAGGTGCATCTGCAAACAGCTGATGAGGGCGATCAGCCTGGGAGAGCGGGTTCTGAGCTGCCAGAAGTCGTTCGGCTGCTGAGCCATGGCGCTCACCCTTGGAGTCCTTCTTGAAGGCATAAGATACGGTGATAGGACGGTTACAGAGGTACTGCCCATTCATGGCTTCAATTGCTGCATCCGAAGCATCAAATGAAGCAAAATTAATAAAGGCATAACCTTTGGAGTTGCCTGTGTCAGGGTCCCGCATAATTTTGGGGGTTTGTAAGATGACCCCAAAGGCGCTGAAAGTATCATAAAGCAACTTCTCATCAATCTCAGGGTCCAGGTTCCCAATGAAAATGTTGGCCCCTACATCCAGGTTTTTGTTGTGAGCTGATGCTTTGTTCACCCGTATTGGCTTCCCATAGAGTTTGATCATGTTCATGATCTTAATGGCATAGTCAGCATCTTCCTCACTCAAGAATTCCACAAAGCCATAGCCTGGAAAAGTGGAGAAGAGGAGGTTAACAACGTAAGTAAAGAGACTGAAAATGGGGTAAAATTCATCTACCCTCTAATCACAAAGAACAAGAAAGAAACAACATCACTTTACTTAAGAATGGTTCCAGAAATAAACTGAAGAGAGGCTTAAAAGAAAAAAATCTTTAGGTTGCTCATGTTATTCCAAAACAGTTGTGAATACTGCTGGGACCCTCCGGGAGCAATTCGCCCCTTGTCATGTACTCACCTTGGTGCTGGCCAGTGACTCTATCCTTTGGCATGTGGGTGTTGACTACTGGTCCAGCCTGGAGAAACAGTTCCCACAGCAGCGGTTCACTAACCTTCTCATCCAGGCCCCCCACGTACACAGTGGCATCTTGAAGGGAGGGAGCAAAAAGAGCAAGCGTGAGAGTGTAACGGGAAGGAAGGAAGTGATGGAAACATGAAGATGGAACCCAACCAGGGGAACTGGGGACCGCGGTAGGGGACAGGAGCAAAAAAAAAAGTTTAAACCCTTAAACTTCTCTCTTCCCAGGACTTCGGGAATCCTCTGAAGTCTAATTTAGTATTGTGAGTGGGTTTTTTTGATTTTTTGAGTGAGAAGTCAGCAGGGGACCGGACTTAAGTATCACACCCAGAGGCCTCAGCCAGCACCCGGCCACCCCGCCCCCAACAGGCAGAGGGCCGGTCTCGCGCCCTCTGGGGAAGGGAGGAGTCCAGTCTCCCACCCCTGCAGAGACACTGCTGGCTGTAGTCGGGGCCTCCTAGCCACGCTGAGCCCATTCCAGACTTTCCCCCTCCAGTTACCCTGATTCCGCTCGGAGATCGGCCCGGCAGCCATGGCGAAAGAGATCCCGCCGTCTCCCAGCAGCGGTTCCGCCTTCTGACCTCAGCACGACTTCCACTTCCGGGGCGAAGACGGACGTAGCGGTGGGCGGGGCCGCGGAAGAGGAGGTGCCTGGAAGCGGCTGCAGCCATCTTAGGAGCCTCCGAAACTTAACCTGGGTCGGGCGGTAGAGTCCTCGGCTCGCGTCCTGAGGTGCCGCTGCTAGTTGTCTTAGCGAGGAGGGCGGAACGGAAACGCTCAGGCCCTCTTAATGCACTGCTAGACTTGAAAGAATCACACTGCTCTCAAAAGTGTAAATTCGAAAGCTAAAAGAACAAAAATTTCAGTTTTAATATATTTTGTGGACAGTGATTCTTCTTCTGTTGTCCAGAGAAGGATGTGCTGAAGAGTTCCCCCCAACCCGAGGACTTGGGGGCTTTCAGGCGCAGAGGGAGCCTTCCCTCTCGCCTGCAGCCTTCTTGCAGATTTGGCCTCACAACCCTGATTTGGGCTGGAGGTATTTGGTTTTCCCTCAGGGGAGGAGACTGCGAAATGTCTGAGCTTAGAGTGACGTCTGCGCTCACCTCGTCCTAATTGCATGGGGAGGGTGAGGGCTGCTCCGCGTTGGTGTGTGACCACAGCTGAGGGGTGGATGGGATCGGAGCTCTAGAGTCTGGATCTCTAGAACACTCTGGCCCCATCTGCCTCTAAATGGGAGACACACACAAGAGAACCCTTTCCCCAAATTGCACTTGAATTTTGCAGAGCCTCACCAAACCCAGTTCCCCTATTTCCTTAGCAATAATATGGTGGATGCCTTCCTCTCTTGGGTCATACACCCCTTTTACCCACCACTTTCCTACCTAGGAGAATCCTTTATTCAAACACAAGAAACAATGCCAGCAATGTGTATAAATACTATGCTTTAATGAGCCCCTTAAATAGAAATTCCACTACAAAAATACAGAGGAGATAGGGTGTTTCCTGTATCCGCCTCATTCCCATAGAAAACTATAAGGGAAGAAATAGAACTTGGAATTAAAGCAGCAGCAAGGCGAGGTGAGAATGCGATTTCTAGGCCATCTTGTTGGGACTGATGAACAGCATCTCTGATCTCATGATTTAACATCTGGTTATCCAGAAGGGATGGGATTGGCCTAAAAAAACCGATCAATTTCTGGATTGTTTTTGTTTCTTAATCCTTCAAATGACAAGAAGCAAAAATATTTGTAGAAACTAAGCAAGACAAGAGTTGGAGCAGTTAACACCACTATCTGCAGCAGAAACTCAGACCTTCTTAGTGAACTTAAGGGCTGAAGTGTGAAAGCTGAGGCTGCAAGTGCAGATACAAAAAAAAAAAAAAAAGATTAGACAGAACCCTCCTCTACCCCAGATCCCCCTCTGCCCTGCCTTTGAGAATGCCAGCAATTTCAGTGGGATTGAGAATGGTATGTGGATCTCTTTTCTTGGAGTGATCCTCAGGAGATATTCTTGGTGTCCATTTCCGTAATAACTCCTGAAGATGGGATAGCTCATCCTGGAGGCCAGAGATTGTGGGAGCTGAGAGGCCCATCTGGGGAGGAGGCAAAGAGGAACAGAGAAGAATACTGTTGTAGCTCTGGCCCCCTGCTTCTCTGCTACTTCTGGTGTCTTTAATTCTGTTTCCCCTTTCAGCTATGCCCTAAATTCCACTTAATCTAAGCCACAAGCACTTTCCCGCACCTCCTACACTCCCAAACCTTGTTTGATGCCAAGAGGAGTAGAACTTCACTTCCCAGACTCCCAGAGGCTTCAGCTCCTTGCCTTTCCAGCTCCTGTTCATCTGGTTCAGCAGAGTCAAGTCCCTTGTCCCACTCCCAGTCTATTTTCCCTTCTTACCTGGACCTCAGGCCTTCCCCTCAGGTAGCAGCGTCTCCAGAGCCTGATCTGGGGTCCCAGATACCCAGGCAGCAGCAGCCCTGGAGGTAAAGGGCAAGCTCCCCAATGTGAGGGGAGACCCCATTCCTGGTCAGCCAGGCTTTCAGAGGAGATAGCAGGTCGAGGGAGCCAACGAGAAGAGAC
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TAGAATGTCTGAAGGAAAGGAAAACTCTGAAACTGTTACTGTTGAGGAACAAAGGGCAGCAGGGTGAGTGGTAACAGAGATGCTCTACCAAGCTCTTCCCTCCCTTTCCCAACAAAGCACACCTACCTGGATGGGGCATCCCACCCGGTGGGAATGGGTGAGGATGTGAGTGTCCATGACCAGGATGTCCTGCCCCTGGGGTTCCTGCCGATGGGGGGCCATGTCCTGCAGCCCCAGGAGGCATAGGTGGTGGGGGCATGGCTGGGGGTATCCCAGGTGGGAGGGCTCCAGGAGGTGGCACTGGGGGTGGGAAGGAGCCAGGAGGAGGCATGCCTATAGAGGAAATGGAAAAAGGAAGAGTTAATGGTAGTGAGGAGAAAATGTCTTTAAAGAGCCTGTCCTGATCTGGCCTCTCCAGGCAGGGTGAGCTCTTTCCCCCTCCTCCCAGTGCTCTAAAATCAAAAGCAATGTTAGAAAAGTCAACCAACTTCACCCTCCTAAAGAAACCCAACAACTTTCTTCTTCACCACTACCATCACCCCTCAGTCCTCTTCCCATCAACTCACTGACTCAATGTCCCCTGTCCCCCTTTCAGACTTGTTTTCTTCTTCCTCCTGACCCTCTCCCCCAACCTTAAGACAAACATATTTTAACCAAAAGCTTTACCTGGTGGAGGAAGCCCAGACCCCAATGATGATACCACAGGATTGGGAGCAGAGGGTGGAGGAGGTGCATCTGCAAACAGCTGATGAGGGCGATCAGCCTGGGAGAGCGGGTTCTGAGCTGCCAGAAGTCGTTCGGCTGCTGAGCCATGGCGCTCACCCTTGGAGTCCTTCTTGAAGGCATAAGATACGGTGATAGGACGGTTACAGAGGTACTGCCCATTCATGGCTTCAATTGCTGCATCCGAAGCATCAAATGAAGCAAAATTAATAAAGGCATAACCTTTGGAGTTGCCTGTGTCAGGGTCCCGCATAATTTTGGGGGTTTGTAAGATGACCCCAAAGGCGCTGAAAGTATCATAAAGCAACTTCTCATCAATCTCAGGGTCCAGGTTCCCAATGAAAATGTTGGCCCCTACATCCAGGTTTTTGTTGTGAGCTGATGCTTTGTTCACCCGTATTGGCTTCCCATAGAGTTTGATCATGTTCATGATCTTAATGGCATAGTCAGCATCTTCCTCACTCAAGAATTCCACAAAGCCATAGCCTGGAAAAGTGGAGAAGAGGAGGTTAACAACGTAAGTAAAGAGACTGAAAATGGGGTAAAATTCATCTACCCTCTAATCACAAAGAACAAGAAAGAAACAACATCACTTTACTTAAGAATGGTTCCAGAAATAAACTGAAGAGAGGCTTAAAAGAAAAAAATCTTTAGGTTGCTCATGTTATTCCAAAACAGTTGTGAATACTGCTGGGACCCTCCGGGAGCAATTCGCCCCTTGTCATGTACTCACCTTGGTGCTGGCCAGTGACTCTATCCTTTGGCATGTGGGTGTTGACTACTGGTCCAGCCTGGAGAAACAGTTCCCACAGCAGCGGTTCACTAACCTTCTCATCCAGGCCCCCCACGTACACAGTGGCATCTTGAAGGGAGGGAGCAAAAAGAGCAAGCGTGAGAGTGTAACGGGAAGGAAGGAAGTGATGGAAACATGAAGATGGAACCCAACCAGGGGAACTGGGGACCGCGGTAGGGGACAGGAGCAAAAAAAAAAGTTTAAACCCTTAAACTTCTCTCTTCCCAGGACTTCGGGAATCCTCTGAAGTCTAATTTAGTATTGTGAGTGGGTTTTTTTGATTTTTTGAGTGAGAAGTCAGCAGGGGACCGGACTTAAGTATCACACCCAGAGGCCTCAGCCAGCACCCGGCCACCCCGCCCCCAACAGGCAGAGGGCCGGTCTCGCGCCCTCTGGGGAAGGGAGGAGTCCAGTCTCCCACCCCTGCAGAGACACTGCTGGCTGTAGTCGGGGCCTCCTAGCCACGCTGAGCCCATTCCAGACTTTCCCCCTCCAGTTACCCTGATTCCGCTCGGAGATCGGCCCGGCAGCCGTGGCGAAAGAGATCCCGCCGTCTCCCAGCAGCGGTTCCGCCTTCTGACCTCAGCACGACTTCCACTTCCGGGGCGAAGACGGACGTAGCGGTGGGCGGGGCCGCGGAAGAGGAGGTGCCTGGAAGCGGCTGCAGCCATCTTAGGAGCCTCCGAAACTTAACCTGGGTCGGGCGGTAGAGTCCTCGGCTCGCGTCCTGAGGTGCCGCTGCTAGTTGTCTTAGCGAGGAGGGCGGAACGGAAACGCTCAGGCCCTCTTAATGCACTGCTAGACTTGAAAGAATCACACTGCTCTCAAAAGTGTAAATTCGAAAGCTAAAAGAACAAAAATTTCAGTTTTAATATATTTTGTGGACAGTGATTCTTCTTCTGTTGTCCAGAGAAGGATGTGCTGAAGAGTTCCCCCCAACCCGAGGACTTGGGGGCTTTCAGGCGCAGAGGGAGCCTTCCCTCTCGCCTGCAGCCTTCTTGCAGATTTGGCCTCACAACCCTGATTTGGGCTGGAGGTATTTGGTTTTCCCTCAGGGGAGGAGACTGCGAAATGTCTGAGCTTAGAGTGACGTCTGCGCTCACCTCGTCCTAATTGCATGGGGAGGGTGAGGGCTGCTCCGCGTTGGTGTGTGACCACAGCTGAGGGGTGGATGGGATCGGAGCTCTAGAGTCTGGATCTCTAGAACACTCTGGCCCCATCTGCCTCTAAATGGGAGACACACACAAGAGAACCCTTTCCCCAAATTGCACTTGAATTTTGCAGAGCCTCACCAAACCCAGTTCCCCTATTTCCTTAGCAATAATATGGTGGATGCCTTCCTCTCTTGGGTCATACACCCCTTTTACCCACCACTTTCCTACCTAGGAGAATCCTTTATTCAAACACAAGAAACAATGCCAGCAATGTGTATAAATACTATGCTTTAATGAGCCCCTTAAATAGAAATTCCACTACAAAAATACAGAGGAGATAGGGTGTTTCCTGTATCCGCCTCATTCCCATAGAAAACTATAAGGGAAGAAATAGAACTTGGAATTAAAGCAGCAGCAAGGCGAGGTGAGAATGCGATTTCTAGGCCATCTTGTTGGGACTGATGAACAGCATCTCTGATCTCATGATTTAACATCTGGTTATCCAGAAGGGATGGGATTGGCCTAAAAAAACCGATCAATTTCTGGATTGTTTTTGTTTCTTAATCCTTCAAATGACAAGAAGCAAAAATATTTGTAGAAACTAAGCAAGACAAGAGTTGGAGCAGTTAACACCACTATCTGCAGCAGAAACTCAGACCTTCTTAGTGAACTTAAGGGCTGAAGTGTGAAAGCTGAGGCTGCAAGTGCAGATACAAAAAAAAAAAAAAAAGATTAGACAGAACCCTCCTCTACCCCAGATCCCCCTCTGCCCTGCCTTTGAGAATGCCAGCAATTTCAGTGGGATTGAGAATGGTATGTGGATCTCTTTTCTTGGAGTGATCCTCAGGAGATATTCTTGGTGTCCATTTCCGTAATAACTCCTGAAGATGGGATAGCTCATCCTGGAGGCCAGAGATTGTGGGAGCTGAGAGGCCCATCTGGGGAGGAGGCAAAGAGGAACAGAGAAGAATACTGTTGTAGCTCTGGCCCCCTGCTTCTCTGCTACTTCTGGTGTCTTTAATTCTGTTTCCCCTTTCAGCTATGCCCTAAATTCCACTTAATCTAAGCCACAAGCACTTTCCCGCACCTCCTACACTCCCAAACCTTGTTTGATGCCAAGAGGAGTAGAACTTCACTTCCCAGACTCCCAGAGGCTTCAGCTCCTTGCCTTTCCAGCTCCTGTTCATCTGGTTCAGCAGAGTCAAGTCCCTTGTCCCACTCCCAGTCTATTTTCCCTTCTTACCTGGACCTCAGGCCTTCCCCTCAGGTAGCAGCGTCTCCAGAGCCTGATCTGGGGTCCCAGATACCCAGGCAGCAGCAGCCCTGGAGGTAAAGGGCAAGCTCCCCAATGTGAGGGGAGACCCCATTCCTGGTCAGCCAGGCTTTCAGAGGAGATAGCAGGTCGAGGGAGCCAACGAGAAGAGAC
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Task1_train_1527
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The gene LOC129931382, SF3B4 (ATAC-STARR-seq lymphoblastoid active region 1665| splicing factor 3b subunit 4) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; not provided
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AGAATGTCTGAAGGAAAGGAAAACTCTGAAACTGTTACTGTTGAGGAACAAAGGGCAGCAGGGTGAGTGGTAACAGAGATGCTCTACCAAGCTCTTCCCTCCCTTTCCCAACAAAGCACACCTACCTGGATGGGGCATCCCACCCGGTGGGAATGGGTGAGGATGTGAGTGTCCATGACCAGGATGTCCTGCCCCTGGGGTTCCTGCCGATGGGGGGCCATGTCCTGCAGCCCCAGGAGGCATAGGTGGTGGGGGCATGGCTGGGGGTATCCCAGGTGGGAGGGCTCCAGGAGGTGGCACTGGGGGTGGGAAGGAGCCAGGAGGAGGCATGCCTATAGAGGAAATGGAAAAAGGAAGAGTTAATGGTAGTGAGGAGAAAATGTCTTTAAAGAGCCTGTCCTGATCTGGCCTCTCCAGGCAGGGTGAGCTCTTTCCCCCTCCTCCCAGTGCTCTAAAATCAAAAGCAATGTTAGAAAAGTCAACCAACTTCACCCTCCTAAAGAAACCCAACAACTTTCTTCTTCACCACTACCATCACCCCTCAGTCCTCTTCCCATCAACTCACTGACTCAATGTCCCCTGTCCCCCTTTCAGACTTGTTTTCTTCTTCCTCCTGACCCTCTCCCCCAACCTTAAGACAAACATATTTTAACCAAAAGCTTTACCTGGTGGAGGAAGCCCAGACCCCAATGATGATACCACAGGATTGGGAGCAGAGGGTGGAGGAGGTGCATCTGCAAACAGCTGATGAGGGCGATCAGCCTGGGAGAGCGGGTTCTGAGCTGCCAGAAGTCGTTCGGCTGCTGAGCCATGGCGCTCACCCTTGGAGTCCTTCTTGAAGGCATAAGATACGGTGATAGGACGGTTACAGAGGTACTGCCCATTCATGGCTTCAATTGCTGCATCCGAAGCATCAAATGAAGCAAAATTAATAAAGGCATAACCTTTGGAGTTGCCTGTGTCAGGGTCCCGCATAATTTTGGGGGTTTGTAAGATGACCCCAAAGGCGCTGAAAGTATCATAAAGCAACTTCTCATCAATCTCAGGGTCCAGGTTCCCAATGAAAATGTTGGCCCCTACATCCAGGTTTTTGTTGTGAGCTGATGCTTTGTTCACCCGTATTGGCTTCCCATAGAGTTTGATCATGTTCATGATCTTAATGGCATAGTCAGCATCTTCCTCACTCAAGAATTCCACAAAGCCATAGCCTGGAAAAGTGGAGAAGAGGAGGTTAACAACGTAAGTAAAGAGACTGAAAATGGGGTAAAATTCATCTACCCTCTAATCACAAAGAACAAGAAAGAAACAACATCACTTTACTTAAGAATGGTTCCAGAAATAAACTGAAGAGAGGCTTAAAAGAAAAAAATCTTTAGGTTGCTCATGTTATTCCAAAACAGTTGTGAATACTGCTGGGACCCTCCGGGAGCAATTCGCCCCTTGTCATGTACTCACCTTGGTGCTGGCCAGTGACTCTATCCTTTGGCATGTGGGTGTTGACTACTGGTCCAGCCTGGAGAAACAGTTCCCACAGCAGCGGTTCACTAACCTTCTCATCCAGGCCCCCCACGTACACAGTGGCATCTTGAAGGGAGGGAGCAAAAAGAGCAAGCGTGAGAGTGTAACGGGAAGGAAGGAAGTGATGGAAACATGAAGATGGAACCCAACCAGGGGAACTGGGGACCGCGGTAGGGGACAGGAGCAAAAAAAAAAGTTTAAACCCTTAAACTTCTCTCTTCCCAGGACTTCGGGAATCCTCTGAAGTCTAATTTAGTATTGTGAGTGGGTTTTTTTGATTTTTTGAGTGAGAAGTCAGCAGGGGACCGGACTTAAGTATCACACCCAGAGGCCTCAGCCAGCACCCGGCCACCCCGCCCCCAACAGGCAGAGGGCCGGTCTCGCGCCCTCTGGGGAAGGGAGGAGTCCAGTCTCCCACCCCTGCAGAGACACTGCTGGCTGTAGTCGGGGCCTCCTAGCCACGCTGAGCCCATTCCAGACTTTCCCCCTCCAGTTACCCTGATTCCGCTCGGAGATCGGCCCGGCAGCCATGGCGAAAGAGATCCCGCCGTCTCCCAGCAGCGGTTCCGCCTTCTGACCTCAGCACGACTTCCACTTCCGGGGCGAAGACGGACGTAGCGGTGGGCGGGGCCGCGGAAGAGGAGGTGCCTGGAAGCGGCTGCAGCCATCTTAGGAGCCTCCGAAACTTAACCTGGGTCGGGCGGTAGAGTCCTCGGCTCGCGTCCTGAGGTGCCGCTGCTAGTTGTCTTAGCGAGGAGGGCGGAACGGAAACGCTCAGGCCCTCTTAATGCACTGCTAGACTTGAAAGAATCACACTGCTCTCAAAAGTGTAAATTCGAAAGCTAAAAGAACAAAAATTTCAGTTTTAATATATTTTGTGGACAGTGATTCTTCTTCTGTTGTCCAGAGAAGGATGTGCTGAAGAGTTCCCCCCAACCCGAGGACTTGGGGGCTTTCAGGCGCAGAGGGAGCCTTCCCTCTCGCCTGCAGCCTTCTTGCAGATTTGGCCTCACAACCCTGATTTGGGCTGGAGGTATTTGGTTTTCCCTCAGGGGAGGAGACTGCGAAATGTCTGAGCTTAGAGTGACGTCTGCGCTCACCTCGTCCTAATTGCATGGGGAGGGTGAGGGCTGCTCCGCGTTGGTGTGTGACCACAGCTGAGGGGTGGATGGGATCGGAGCTCTAGAGTCTGGATCTCTAGAACACTCTGGCCCCATCTGCCTCTAAATGGGAGACACACACAAGAGAACCCTTTCCCCAAATTGCACTTGAATTTTGCAGAGCCTCACCAAACCCAGTTCCCCTATTTCCTTAGCAATAATATGGTGGATGCCTTCCTCTCTTGGGTCATACACCCCTTTTACCCACCACTTTCCTACCTAGGAGAATCCTTTATTCAAACACAAGAAACAATGCCAGCAATGTGTATAAATACTATGCTTTAATGAGCCCCTTAAATAGAAATTCCACTACAAAAATACAGAGGAGATAGGGTGTTTCCTGTATCCGCCTCATTCCCATAGAAAACTATAAGGGAAGAAATAGAACTTGGAATTAAAGCAGCAGCAAGGCGAGGTGAGAATGCGATTTCTAGGCCATCTTGTTGGGACTGATGAACAGCATCTCTGATCTCATGATTTAACATCTGGTTATCCAGAAGGGATGGGATTGGCCTAAAAAAACCGATCAATTTCTGGATTGTTTTTGTTTCTTAATCCTTCAAATGACAAGAAGCAAAAATATTTGTAGAAACTAAGCAAGACAAGAGTTGGAGCAGTTAACACCACTATCTGCAGCAGAAACTCAGACCTTCTTAGTGAACTTAAGGGCTGAAGTGTGAAAGCTGAGGCTGCAAGTGCAGATACAAAAAAAAAAAAAAAAGATTAGACAGAACCCTCCTCTACCCCAGATCCCCCTCTGCCCTGCCTTTGAGAATGCCAGCAATTTCAGTGGGATTGAGAATGGTATGTGGATCTCTTTTCTTGGAGTGATCCTCAGGAGATATTCTTGGTGTCCATTTCCGTAATAACTCCTGAAGATGGGATAGCTCATCCTGGAGGCCAGAGATTGTGGGAGCTGAGAGGCCCATCTGGGGAGGAGGCAAAGAGGAACAGAGAAGAATACTGTTGTAGCTCTGGCCCCCTGCTTCTCTGCTACTTCTGGTGTCTTTAATTCTGTTTCCCCTTTCAGCTATGCCCTAAATTCCACTTAATCTAAGCCACAAGCACTTTCCCGCACCTCCTACACTCCCAAACCTTGTTTGATGCCAAGAGGAGTAGAACTTCACTTCCCAGACTCCCAGAGGCTTCAGCTCCTTGCCTTTCCAGCTCCTGTTCATCTGGTTCAGCAGAGTCAAGTCCCTTGTCCCACTCCCAGTCTATTTTCCCTTCTTACCTGGACCTCAGGCCTTCCCCTCAGGTAGCAGCGTCTCCAGAGCCTGATCTGGGGTCCCAGATACCCAGGCAGCAGCAGCCCTGGAGGTAAAGGGCAAGCTCCCCAATGTGAGGGGAGACCCCATTCCTGGTCAGCCAGGCTTTCAGAGGAGATAGCAGGTCGAGGGAGCCAACGAGAAGAGACT
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AGAATGTCTGAAGGAAAGGAAAACTCTGAAACTGTTACTGTTGAGGAACAAAGGGCAGCAGGGTGAGTGGTAACAGAGATGCTCTACCAAGCTCTTCCCTCCCTTTCCCAACAAAGCACACCTACCTGGATGGGGCATCCCACCCGGTGGGAATGGGTGAGGATGTGAGTGTCCATGACCAGGATGTCCTGCCCCTGGGGTTCCTGCCGATGGGGGGCCATGTCCTGCAGCCCCAGGAGGCATAGGTGGTGGGGGCATGGCTGGGGGTATCCCAGGTGGGAGGGCTCCAGGAGGTGGCACTGGGGGTGGGAAGGAGCCAGGAGGAGGCATGCCTATAGAGGAAATGGAAAAAGGAAGAGTTAATGGTAGTGAGGAGAAAATGTCTTTAAAGAGCCTGTCCTGATCTGGCCTCTCCAGGCAGGGTGAGCTCTTTCCCCCTCCTCCCAGTGCTCTAAAATCAAAAGCAATGTTAGAAAAGTCAACCAACTTCACCCTCCTAAAGAAACCCAACAACTTTCTTCTTCACCACTACCATCACCCCTCAGTCCTCTTCCCATCAACTCACTGACTCAATGTCCCCTGTCCCCCTTTCAGACTTGTTTTCTTCTTCCTCCTGACCCTCTCCCCCAACCTTAAGACAAACATATTTTAACCAAAAGCTTTACCTGGTGGAGGAAGCCCAGACCCCAATGATGATACCACAGGATTGGGAGCAGAGGGTGGAGGAGGTGCATCTGCAAACAGCTGATGAGGGCGATCAGCCTGGGAGAGCGGGTTCTGAGCTGCCAGAAGTCGTTCGGCTGCTGAGCCATGGCGCTCACCCTTGGAGTCCTTCTTGAAGGCATAAGATACGGTGATAGGACGGTTACAGAGGTACTGCCCATTCATGGCTTCAATTGCTGCATCCGAAGCATCAAATGAAGCAAAATTAATAAAGGCATAACCTTTGGAGTTGCCTGTGTCAGGGTCCCGCATAATTTTGGGGGTTTGTAAGATGACCCCAAAGGCGCTGAAAGTATCATAAAGCAACTTCTCATCAATCTCAGGGTCCAGGTTCCCAATGAAAATGTTGGCCCCTACATCCAGGTTTTTGTTGTGAGCTGATGCTTTGTTCACCCGTATTGGCTTCCCATAGAGTTTGATCATGTTCATGATCTTAATGGCATAGTCAGCATCTTCCTCACTCAAGAATTCCACAAAGCCATAGCCTGGAAAAGTGGAGAAGAGGAGGTTAACAACGTAAGTAAAGAGACTGAAAATGGGGTAAAATTCATCTACCCTCTAATCACAAAGAACAAGAAAGAAACAACATCACTTTACTTAAGAATGGTTCCAGAAATAAACTGAAGAGAGGCTTAAAAGAAAAAAATCTTTAGGTTGCTCATGTTATTCCAAAACAGTTGTGAATACTGCTGGGACCCTCCGGGAGCAATTCGCCCCTTGTCATGTACTCACCTTGGTGCTGGCCAGTGACTCTATCCTTTGGCATGTGGGTGTTGACTACTGGTCCAGCCTGGAGAAACAGTTCCCACAGCAGCGGTTCACTAACCTTCTCATCCAGGCCCCCCACGTACACAGTGGCATCTTGAAGGGAGGGAGCAAAAAGAGCAAGCGTGAGAGTGTAACGGGAAGGAAGGAAGTGATGGAAACATGAAGATGGAACCCAACCAGGGGAACTGGGGACCGCGGTAGGGGACAGGAGCAAAAAAAAAAGTTTAAACCCTTAAACTTCTCTCTTCCCAGGACTTCGGGAATCCTCTGAAGTCTAATTTAGTATTGTGAGTGGGTTTTTTTGATTTTTTGAGTGAGAAGTCAGCAGGGGACCGGACTTAAGTATCACACCCAGAGGCCTCAGCCAGCACCCGGCCACCCCGCCCCCAACAGGCAGAGGGCCGGTCTCGCGCCCTCTGGGGAAGGGAGGAGTCCAGTCTCCCACCCCTGCAGAGACACTGCTGGCTGTAGTCGGGGCCTCCTAGCCACGCTGAGCCCATTCCAGACTTTCCCCCTCCAGTTACCCTGATTCCGCTCGGAGATCGGCCCGGCAGCCACGGCGAAAGAGATCCCGCCGTCTCCCAGCAGCGGTTCCGCCTTCTGACCTCAGCACGACTTCCACTTCCGGGGCGAAGACGGACGTAGCGGTGGGCGGGGCCGCGGAAGAGGAGGTGCCTGGAAGCGGCTGCAGCCATCTTAGGAGCCTCCGAAACTTAACCTGGGTCGGGCGGTAGAGTCCTCGGCTCGCGTCCTGAGGTGCCGCTGCTAGTTGTCTTAGCGAGGAGGGCGGAACGGAAACGCTCAGGCCCTCTTAATGCACTGCTAGACTTGAAAGAATCACACTGCTCTCAAAAGTGTAAATTCGAAAGCTAAAAGAACAAAAATTTCAGTTTTAATATATTTTGTGGACAGTGATTCTTCTTCTGTTGTCCAGAGAAGGATGTGCTGAAGAGTTCCCCCCAACCCGAGGACTTGGGGGCTTTCAGGCGCAGAGGGAGCCTTCCCTCTCGCCTGCAGCCTTCTTGCAGATTTGGCCTCACAACCCTGATTTGGGCTGGAGGTATTTGGTTTTCCCTCAGGGGAGGAGACTGCGAAATGTCTGAGCTTAGAGTGACGTCTGCGCTCACCTCGTCCTAATTGCATGGGGAGGGTGAGGGCTGCTCCGCGTTGGTGTGTGACCACAGCTGAGGGGTGGATGGGATCGGAGCTCTAGAGTCTGGATCTCTAGAACACTCTGGCCCCATCTGCCTCTAAATGGGAGACACACACAAGAGAACCCTTTCCCCAAATTGCACTTGAATTTTGCAGAGCCTCACCAAACCCAGTTCCCCTATTTCCTTAGCAATAATATGGTGGATGCCTTCCTCTCTTGGGTCATACACCCCTTTTACCCACCACTTTCCTACCTAGGAGAATCCTTTATTCAAACACAAGAAACAATGCCAGCAATGTGTATAAATACTATGCTTTAATGAGCCCCTTAAATAGAAATTCCACTACAAAAATACAGAGGAGATAGGGTGTTTCCTGTATCCGCCTCATTCCCATAGAAAACTATAAGGGAAGAAATAGAACTTGGAATTAAAGCAGCAGCAAGGCGAGGTGAGAATGCGATTTCTAGGCCATCTTGTTGGGACTGATGAACAGCATCTCTGATCTCATGATTTAACATCTGGTTATCCAGAAGGGATGGGATTGGCCTAAAAAAACCGATCAATTTCTGGATTGTTTTTGTTTCTTAATCCTTCAAATGACAAGAAGCAAAAATATTTGTAGAAACTAAGCAAGACAAGAGTTGGAGCAGTTAACACCACTATCTGCAGCAGAAACTCAGACCTTCTTAGTGAACTTAAGGGCTGAAGTGTGAAAGCTGAGGCTGCAAGTGCAGATACAAAAAAAAAAAAAAAAGATTAGACAGAACCCTCCTCTACCCCAGATCCCCCTCTGCCCTGCCTTTGAGAATGCCAGCAATTTCAGTGGGATTGAGAATGGTATGTGGATCTCTTTTCTTGGAGTGATCCTCAGGAGATATTCTTGGTGTCCATTTCCGTAATAACTCCTGAAGATGGGATAGCTCATCCTGGAGGCCAGAGATTGTGGGAGCTGAGAGGCCCATCTGGGGAGGAGGCAAAGAGGAACAGAGAAGAATACTGTTGTAGCTCTGGCCCCCTGCTTCTCTGCTACTTCTGGTGTCTTTAATTCTGTTTCCCCTTTCAGCTATGCCCTAAATTCCACTTAATCTAAGCCACAAGCACTTTCCCGCACCTCCTACACTCCCAAACCTTGTTTGATGCCAAGAGGAGTAGAACTTCACTTCCCAGACTCCCAGAGGCTTCAGCTCCTTGCCTTTCCAGCTCCTGTTCATCTGGTTCAGCAGAGTCAAGTCCCTTGTCCCACTCCCAGTCTATTTTCCCTTCTTACCTGGACCTCAGGCCTTCCCCTCAGGTAGCAGCGTCTCCAGAGCCTGATCTGGGGTCCCAGATACCCAGGCAGCAGCAGCCCTGGAGGTAAAGGGCAAGCTCCCCAATGTGAGGGGAGACCCCATTCCTGGTCAGCCAGGCTTTCAGAGGAGATAGCAGGTCGAGGGAGCCAACGAGAAGAGACT
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Task1_train_1528
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A variant was discovered on Chromosome 1, affecting VPS45 (vacuolar protein sorting 45 homolog). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Congenital neutropenia-myelofibrosis-nephromegaly syndrome
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CTTATTTTCAATAAAATGACTTACTTCCCTAGTATTCTCATTCTCCAATTCCTCCGATGGAGTCTTCCTCTATCGCCCAGGCTGGAGTGCAGTGGCCTGATCTGGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTCCGCCACCACGCCCAGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCAGTCCTTTTAAAATATATATATATATATATATAAAATTATGAATTTGTGGATTAAATATATTTTTGCTACCCATTCCAATTTGAAGGTCACTTATTCATTAGGCTTTAACTATCAGGCCCTTTTACATATATTGCAGCAGAAATTATCTCCTTTGAGTCAACCCCAACTCATGTGTTTCAGATTTCAGTAATGTGATCAGCAAGAGTGACGTGAAGTCATTGGCTGAAGCTGATGAACAGGAAGTTGTGGCTGAGGTTCAGGTAAACATATTGGTCCTGTAACACATCTCGTATGTTGGCCCTTTTTAAATATTTGAGTCTAAAAATAAAAAATAAGGAAAGGTCTGTCTCAAAAGAAGTTTTATTATGAATACTTGAATATGTTTATCACATAAATGAGGAATATTGTTTTCAGAGGCAGCAAATAAACTAGTTTTGAATTTTTCAGAAGGATGTGATAGGTGATAAATGAATAAAAAGAATACCTGTTTTAAATTATATTCTCTCTCATGACAACACATTGGACAGCAAAGTTCTTTTTTATCTGAGTAGAACATTGTATCTCCTATTAGCAGTATTTTATTTTTACTAATTGATAAGTATGCATAGAGGTCTCCAGAAATATAATGTGTATAACCTTACAACCTTTATTTGTTAGATTTATTATTATTGCTACTGTTTTGTAATTATTTTAATTCTCCCACGTTGACTGTTGTTACCCAATTATTAATTGAACAATTTAGTATCTCTTTACACCTGTATTTCACAAAGTTTGGCTATATCATATTATATCACTTATGAAAATATTACTGCTTGATACAATTGAAGTTTATGGAATGACTATTCTTGGTGCTTTATTTGCAGGAATTTTATGGTGATTACATTGCTGTGAACCCACATTTGTTTTCCCTCAATATTTTGGGTTGCTGCCAGGTATGGAAGGAAAGGTTTAATTTATCAGTCGAGAGTTAATTCAGCAAATAATTAGACTTGTAAGAGAAAATTCAAATATTTTCTCTGAATATATGTTTTTAACAAAAAGGGTCGAAATTGGGATCCAGCCCAGCTATCTAGAACAACTCAAGGGCTTACAGCTCTCCTTTTATCTCTGAAGAAGTGTCCCATGATTCGTTATCAGCTCTCATCAGAGGCAGCAAAGAGACTTGCAGAGTGCGTTAAGGTATGGCATTACCTATTCCTGGTTCCAAAACATAAAGGCCATTCATTTCTCTATCATATTTCAGAAACTAAAGGAATAGTTTATTTACAACCAAGGAGATGATTGTATGTTAGGTTTCCGCGAAAAGAGGTAGGTATATGTAATTTAAAACAAAAAGCAACAATTAGAGCTAAGATTCTTAGGTTTAACCCAAGAAACATTCACAAGCTATTTAACTTTTTTTGGTCCAGTTAAACCACTTATAAAATAGGGTTTCATATCCTAACCTCTTAAATAGTATGCTACTAAACTTTGTGAGACTTTTGAATCCTTCATATGGAAGATCTATGTGGGTGCAAAGAACTATTGTTAAATGTAGTGTTTATTAATTTCCTATTTATATCATTTCTATATGTAACTAGATGGTTGCACAAACCATCTTTCTCTCTCACCCACAGCAAGTGATAACTAAAGAATATGAACTGTTTGAATTCCGTCGGACAGAGGTTCCTCCATTGCTCCTTATTTTAGATCGCTGTGATGATGCCATCACCCCATTGCTAAACCAGGTACAAAACCCTTTCTTGGCATAATAGAAGGATAATTTTAAGTGATATTCATCAAAATACAGATAGGGAAGTAAAAACATGGTCCATTTATTTGCCTCCTTATTTTTAGCTATTCTTGGTTTTGCTTTGTATTTCCTGGTGTTTTGGTATCATGATTCTTCCATCCACTGTCATCATAACTCTTCTGCTTCATCTCTCCTGTACCTTTCTGCCAGTACCTCCACCCCTAATCAAGACAGCTTCTTAATTCTGTAGATTCTATTTCCCTGTGTTTCCTTCTGTCTCCTCATTTCCATGCTTACAGCCATTGCCTTGGTCTAGATCCTAATCTCTTGCAAGAATATTGAAATAGTCATCTACTTCGTTCCCTACTTTTTATTTCTTCTCACTCCAAATGTTCCACAAGTACAATTTCCTAAAGCACAGCTCTATCTTATTACTCTTGGCTTAAAAAACTTCATTGGTTCCCATTTGCCTACTAGGTTAAAAAGAAACTCCTGAACTTGGCATCCAAGAGCCTTCACAATGTGGGCTAAACCTCTTATAAAACCTAGAGTTCACCACTTACATAGATAATGCCACATGGTTTCCTGCCAGCATGCTTTTACTGTGACTGCTTTCTAAACTCTAGAATGTTTGGAATACCTTCTCTTCCCATCTTCACCTATCAAAATACTGCTGTTAAAACCACTCAATCTGGCCGGGCACGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAGGTCAAGAGTTCAAGACTAACCTGGCCAACATGGTGAAGCCCCGTCTCTACTAAAACTACAAAAAAATTAGCCGGGTGTGGTTGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCGAAGGTTGCAGTAAGCTGAGATCATGCCACTGCACTCCAGCCAGGGCGACAGAGCAAGACTCCGTCTCCAAAAATAAATAAATAAATAAATAAAATGATTTATATGAATAATAGCAAAGAATAAAAAAAAGAAGAGCCGGGCGCGGTGACTCACACCTATAATCCCAGCACTTTGGGAGGTCGAGGTGGGTAGATCACCTGAGGTCCTGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGACGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGATGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAACCGAGATCATGCCACTGTCCTCCAGCCTGGGCAACGAGAGCGAAACTCTTGTCTCAAAAAAAAAAAAAAACACTCAAAAGCCATCTCCAACATCCAGCCATTCTTCAACATCTCGAAGCCTGTATTCTTTCAGTCAGATATTGTTCTTATCTCCTGAAAATCCCTGTAGACTTGTAGACCTTTGTGTCTCTCTCATGTCTCATGCTGTACTTGCCATGTTGTAGCTTTGGTTGTTTACATCCTCTCCTACGTTACATATTTCTTCAAGGCAGACTGAGTCTCACCAGTGTTTTTTCTCCTTCAAGTATAAGAACAGTGCACATAGCGGGTGCTCTATTAATAGTGATTTTGTATGTGTGTATGTATTTATTGAGACAGAGTCTCTCTCTGTCACCCAGATTGGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCATGCCCCAGCTTCCTGAGTAGTTGGGATCACAGGTGCACACCCCCACACCTGGCTAATTTTTGTATTAAATATTTTTAGTACAGACAAGGTTTCTGTCTAAATATTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCGACTCGGCCTCCCAAAGTGCTAAGATGACAGGCGTGAGCCACCACGCCCGGCTGTGACTTTGTATTTACAGAGAAAGGCACAGTCTATGTTTCAGTTTCTTCCCAGCTTGTACTAATGTTAATGCTAAGGGAAATCTGTGGAGTGAAACTTC
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CTTATTTTCAATAAAATGACTTACTTCCCTAGTATTCTCATTCTCCAATTCCTCCGATGGAGTCTTCCTCTATCGCCCAGGCTGGAGTGCAGTGGCCTGATCTGGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTCCGCCACCACGCCCAGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCAGTCCTTTTAAAATATATATATATATATATATAAAATTATGAATTTGTGGATTAAATATATTTTTGCTACCCATTCCAATTTGAAGGTCACTTATTCATTAGGCTTTAACTATCAGGCCCTTTTACATATATTGCAGCAGAAATTATCTCCTTTGAGTCAACCCCAACTCATGTGTTTCAGATTTCAGTAATGTGATCAGCAAGAGTGACGTGAAGTCATTGGCTGAAGCTGATGAACAGGAAGTTGTGGCTGAGGTTCAGGTAAACATATTGGTCCTGTAACACATCTCGTATGTTGGCCCTTTTTAAATATTTGAGTCTAAAAATAAAAAATAAGGAAAGGTCTGTCTCAAAAGAAGTTTTATTATGAATACTTGAATATGTTTATCACATAAATGAGGAATATTGTTTTCAGAGGCAGCAAATAAACTAGTTTTGAATTTTTCAGAAGGATGTGATAGGTGATAAATGAATAAAAAGAATACCTGTTTTAAATTATATTCTCTCTCATGACAACACATTGGACAGCAAAGTTCTTTTTTATCTGAGTAGAACATTGTATCTCCTATTAGCAGTATTTTATTTTTACTAATTGATAAGTATGCATAGAGGTCTCCAGAAATATAATGTGTATAACCTTACAACCTTTATTTGTTAGATTTATTATTATTGCTACTGTTTTGTAATTATTTTAATTCTCCCACGTTGACTGTTGTTACCCAATTATTAATTGAACAATTTAGTATCTCTTTACACCTGTATTTCACAAAGTTTGGCTATATCATATTATATCACTTATGAAAATATTACTGCTTGATACAATTGAAGTTTATGGAATGACTATTCTTGGTGCTTTATTTGCAGGAATTTTATGGTGATTACATTGCTGTGAACCCACATTTGTTTTCCCTCAATATTTTGGGTTGCTGCCAGGTATGGAAGGAAAGGTTTAATTTATCAGTCGAGAGTTAATTCAGCAAATAATTAGACTTGTAAGAGAAAATTCAAATATTTTCTCTGAATATATGTTTTTAACAAAAAGGGTCGAAATTGGGATCCAGCCCAGCTATCTAGAACAACTCAAGGGCTTACAGCTCTCCTTTTATCTCTGAAGAAGTGTCCCATGATTCGTTATCAGCTCTCATCAGAGGCAGCAAAGAGACTTGCAGAGTGCGTTAAGGTATGGCATTACCTATTCCTGGTTCCAAAACATAAAGGCCATTCATTTCTCTATCATATTTCAGAAACTAAAGGAATAGTTTATTTACAACCAAGGAGATGATTGTATGTTAGGTTTCCGCGAAAAGAGGTAGGTATATGTAATTTAAAACAAAAAGCAACAATTAGAGCTAAGATTCTTAGGTTTAACCCAAGAAACATTCACAAGCTATTTAACTTTTTTTGGTCCAGTTAAACCACTTATAAAATAGGGTTTCATATCCTAACCTCTTAAATAGTATGCTACTAAACTTTGTGAGACTTTTGAATCCTTCATATGGAAGATCTATGTGGGTGCAAAGAACTATTGTTAAATGTAGTGTTTATTAATTTCCTATTTATATCATTTCTATATGTAACTAGATGGTTGCACAAACCATCTTTCTCTCTCACCCACAGCAAGTGATAACTAAAGAATATGAACTGTTTGAATTCCGTCGGACAGAGGTTCCTCCATTGCTCCTTATTTTAGATCGCTGTGATGATGCCATCAACCCATTGCTAAACCAGGTACAAAACCCTTTCTTGGCATAATAGAAGGATAATTTTAAGTGATATTCATCAAAATACAGATAGGGAAGTAAAAACATGGTCCATTTATTTGCCTCCTTATTTTTAGCTATTCTTGGTTTTGCTTTGTATTTCCTGGTGTTTTGGTATCATGATTCTTCCATCCACTGTCATCATAACTCTTCTGCTTCATCTCTCCTGTACCTTTCTGCCAGTACCTCCACCCCTAATCAAGACAGCTTCTTAATTCTGTAGATTCTATTTCCCTGTGTTTCCTTCTGTCTCCTCATTTCCATGCTTACAGCCATTGCCTTGGTCTAGATCCTAATCTCTTGCAAGAATATTGAAATAGTCATCTACTTCGTTCCCTACTTTTTATTTCTTCTCACTCCAAATGTTCCACAAGTACAATTTCCTAAAGCACAGCTCTATCTTATTACTCTTGGCTTAAAAAACTTCATTGGTTCCCATTTGCCTACTAGGTTAAAAAGAAACTCCTGAACTTGGCATCCAAGAGCCTTCACAATGTGGGCTAAACCTCTTATAAAACCTAGAGTTCACCACTTACATAGATAATGCCACATGGTTTCCTGCCAGCATGCTTTTACTGTGACTGCTTTCTAAACTCTAGAATGTTTGGAATACCTTCTCTTCCCATCTTCACCTATCAAAATACTGCTGTTAAAACCACTCAATCTGGCCGGGCACGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGCTGGATCACCTGAGGTCAAGAGTTCAAGACTAACCTGGCCAACATGGTGAAGCCCCGTCTCTACTAAAACTACAAAAAAATTAGCCGGGTGTGGTTGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCGAAGGTTGCAGTAAGCTGAGATCATGCCACTGCACTCCAGCCAGGGCGACAGAGCAAGACTCCGTCTCCAAAAATAAATAAATAAATAAATAAAATGATTTATATGAATAATAGCAAAGAATAAAAAAAAGAAGAGCCGGGCGCGGTGACTCACACCTATAATCCCAGCACTTTGGGAGGTCGAGGTGGGTAGATCACCTGAGGTCCTGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGACGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGATGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAACCGAGATCATGCCACTGTCCTCCAGCCTGGGCAACGAGAGCGAAACTCTTGTCTCAAAAAAAAAAAAAAACACTCAAAAGCCATCTCCAACATCCAGCCATTCTTCAACATCTCGAAGCCTGTATTCTTTCAGTCAGATATTGTTCTTATCTCCTGAAAATCCCTGTAGACTTGTAGACCTTTGTGTCTCTCTCATGTCTCATGCTGTACTTGCCATGTTGTAGCTTTGGTTGTTTACATCCTCTCCTACGTTACATATTTCTTCAAGGCAGACTGAGTCTCACCAGTGTTTTTTCTCCTTCAAGTATAAGAACAGTGCACATAGCGGGTGCTCTATTAATAGTGATTTTGTATGTGTGTATGTATTTATTGAGACAGAGTCTCTCTCTGTCACCCAGATTGGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCATGCCCCAGCTTCCTGAGTAGTTGGGATCACAGGTGCACACCCCCACACCTGGCTAATTTTTGTATTAAATATTTTTAGTACAGACAAGGTTTCTGTCTAAATATTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCGACTCGGCCTCCCAAAGTGCTAAGATGACAGGCGTGAGCCACCACGCCCGGCTGTGACTTTGTATTTACAGAGAAAGGCACAGTCTATGTTTCAGTTTCTTCCCAGCTTGTACTAATGTTAATGCTAAGGGAAATCTGTGGAGTGAAACTTC
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Task1_train_1529
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An alteration has been detected in PRPF3 (pre-mRNA processing factor 3) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Retinitis pigmentosa 18
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GCAAATGCAAGAGCCAAACTCTTGGGTTGGTGTGTTATTAGATGCGATATGCTCCACTACCCACTGTGAGGGATGCTAATTCCAAAGGGCTTTTTGTTAGTTTCCCAAAGTTGAAACTGGGAAACAAAGTTGCTTCTATTTTTTTTTTTTTTTTTTTTTTGAGGAGGAGTTTCGCTCTTGTGGTCCAGGCTGCAGTGCAACGGCATGATCTCAGCTCACCACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTTGAGTTGGAGTTTCGCTTTTGTCACCCAGGCTGGAGTGCAATGGCACTATCTCCGTTCACTGCAACTTTCACCCCCCTGGGTTGAAGCTATTCTCCGGCCTTAGCCTCCGGAGTAGCTTGGATTATAGGTGCCTGCCACCACACCTGGCTAGTTTTTGAACTTTTAGTAGAGACAGGGTTTTGCCATGTTGGTCATGCTTGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTAGGCTTCCCAAAGTGCTGGGTTTACCGGCGTGAGCCACCGCACCTGGCCCTAATTTTGTTTTCTACATTTGCCAGGTATCATTGAATGAGGGGGTTTAACAGCTTAAAGGAAAACAACTAAGAACACTACTTAAGAAAGATAAGAGGCCAGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAAGAAATCAACACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCTTCATTTTCTATTTAAAGTTTATACACACACACACACACACACATGTTTTTTGAAATGGAGTCTCGCTGTGTTGCCAGGCTAGAGTGCAGTGGCAAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGTCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCCGTGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACCGCACCTGGCCTCAATATATTTTTTACATAAAATGTTTATAATAGAGTTGGGTCTCACTTGGTTGTCCAGGCTGGTCTCGAACTCTTGGGCTCACGCCATCCTCCCACCTTGGCCTATCAAAGTGCTAGAATTACAGGCATAAGCCACTGTGTCCAGCCTAAAGTTTCTTTTAATGATATTGATATTTACCTAGGTTTCTTTAATATTTTTATTGCTGTCCGGGCCTGGTGGCTCATGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACATTAGCCAGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGCTACAGTGAGCTGAGATCGTGCCATTGCACTCCAACCTGGGTGACAGAGTGAGAGAGAGAAAAAAAAAAAATATATATATATATATATGTATTCTTACTGCTTTGGTATACTAATATCTCTGCCTGACAGTTGACAATGACACACCAGTTACTCTGGGAGTATATCTTACCAAGAAGGAACAGAAAAAACTTCGGAGACAAACAAGGAGGGAAGCACAGAAGGAACTACAAGAAAAAGTCAGGCTGGGCCTGATGCCTCCTCCAGAACCCAAAGGTGCATTTCTCAGTGGCCTCTTCTGTTAAAAAGAGTGGCAAGTTTATGTCTTTAATCCTGGAGGAACTTTAACATCTCTGTGTTTGAGTGATTTCTGTTTCTAAGAATTATTCTTGGGGTCCTTTTTCTCCAAGTTTTCTACCATCTTTTCATATTAAGATAGGTCAACACATTCATTATAGAGGCCATTTATGGCTTATTTTTAAGCATACTGATCATACAACACTCTGGTTTTCCTGGAAGAATACAGGTCTTGAAATTCATGGAGATAGTAGTTGCAGTATTTGCGTAGACTTTTTATGTACATAATTCTTAATGTTTTAATTTTTACAATGAAAGTACAGGATAAAAAACTTGACCCTGTAGTTACATTCTCGTTCAGCAGTATTTTGACTGAGCACTATTATTTATAAGCTCTTTCACTAGATGCTGTGATCAGTGTGAAAAATATGAAAGGAATTAAGTTCCACGTCCTTCATAAATTTTCAGATAATGTAAATGCATACCAATCTTCAACTTAATTGTGTGAACTTCTGCAAATGCTGAAGTGATTGGATGGGATTTTCAAGATAGGAGTTATTGGAGGAAGTGAGTTTAGAGCAGAGATTTGAAATAGGTAAATAATATGAATTGGTATGGAAGAAATAACAAGTTACTCCAGCTGGAGAAGTGACTTCAAAGACTGATTGTTGTCCTCTCTTCACTGCAGTGAGAATTTCTAATTTGATGCGAGTATTAGGAACAGAAGCTGTTCAAGACCCCACGAAGGTAGAAGCCCACGTCAGAGCTCAGATGGCAAAAAGACAGAAGTAAGTGCCATGGGATTGGGTGGAAACCTCGGGCAAGTACCTTTCCCAAACTCTTCTGGGGGGTCCATATTTGGAGGGAGGGGAGAGTTCTCCGTTGCTCTCTCTTTCCCTCAGCCCTGCCTCTGATCTTCAATGCCTTTCTCACTTGTGGATGTCCTTCCTGTCACGACAGAGCGCATGAAGAGGCCAACGCTGCCCGAAAACTCACAGCAGAACAGAGAAAGGTCAAGAAAATTAAAAAGCTTAAAGAAGACATTTCACAGGGGGTACACATATCTGTATATAGGTAGGTGTCCATACTGGGCCAAACTTCCCCTTAGAATTACTAAAACATTTTCCAAGTGCTTGAGGCAGAATCATTGTGGCCTAAAAGCATACCTAACACCAGTTCCTACTCTCTTTTAATGACCCTAGTGTGGATCAAGAGCTAGTAAATCTTGTAAAATAGCGAGAGTTAATGACTTATGTTTATGGTTACCCAGTTCTTCCCTCTCAAGTCTTCTTTTTTTTTTTACCAGAATATTAGTTCTGAACAAGTCAATATACTTGTTCAGGCCAAGATGTGAACTAAAGATTGTATGTCCTTTGAGAACTATAAAATATCATCCTATTTCTTTTTTTTTTCATCTTTTTTTTTTTAAATGGTCTGAGTTTGCTTCCAACATCCATGGAAGCATTACAAATTTTCTTTCCTCCGTAGTCATATCCTTACCCTGATGTATTGCTGTGTTTCATCCTCACTCCAAAATGCATTTTATATGTTGTAAATATTTTTCTACCTTTGTGTTGATTTAATGTTTTTATTCTTTTATGTTGAGTACATGTGTATCTTCTATTTTTAAAATGTGCTTATTTCTATTAACTAGTTCTTTATTATAAAAGTGGTACATTATCACAAAAATAGTGAATGCTTATTAAGATTTAAAAAATTGTCTGACAACACAGAAGAATACTTACTCAAAATGTCTCCTTTCTATTCTCTGATCCCTTAGAACCACTCTCTTTAGGTAATTGCTATTAACAGTTTTTCACATATCCTCCTAGAAAATTTTCATGCCTATATAGTGATCCTATATATATATTTTATTTATTTATTT
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GCAAATGCAAGAGCCAAACTCTTGGGTTGGTGTGTTATTAGATGCGATATGCTCCACTACCCACTGTGAGGGATGCTAATTCCAAAGGGCTTTTTGTTAGTTTCCCAAAGTTGAAACTGGGAAACAAAGTTGCTTCTATTTTTTTTTTTTTTTTTTTTTTGAGGAGGAGTTTCGCTCTTGTGGTCCAGGCTGCAGTGCAACGGCATGATCTCAGCTCACCACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTTGAGTTGGAGTTTCGCTTTTGTCACCCAGGCTGGAGTGCAATGGCACTATCTCCGTTCACTGCAACTTTCACCCCCCTGGGTTGAAGCTATTCTCCGGCCTTAGCCTCCGGAGTAGCTTGGATTATAGGTGCCTGCCACCACACCTGGCTAGTTTTTGAACTTTTAGTAGAGACAGGGTTTTGCCATGTTGGTCATGCTTGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTAGGCTTCCCAAAGTGCTGGGTTTACCGGCGTGAGCCACCGCACCTGGCCCTAATTTTGTTTTCTACATTTGCCAGGTATCATTGAATGAGGGGGTTTAACAGCTTAAAGGAAAACAACTAAGAACACTACTTAAGAAAGATAAGAGGCCAGGCGAGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAAGAAATCAACACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCTTCATTTTCTATTTAAAGTTTATACACACACACACACACACACATGTTTTTTGAAATGGAGTCTCGCTGTGTTGCCAGGCTAGAGTGCAGTGGCAAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGTCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCCGTGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACCGCACCTGGCCTCAATATATTTTTTACATAAAATGTTTATAATAGAGTTGGGTCTCACTTGGTTGTCCAGGCTGGTCTCGAACTCTTGGGCTCACGCCATCCTCCCACCTTGGCCTATCAAAGTGCTAGAATTACAGGCATAAGCCACTGTGTCCAGCCTAAAGTTTCTTTTAATGATATTGATATTTACCTAGGTTTCTTTAATATTTTTATTGCTGTCCGGGCCTGGTGGCTCATGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACATTAGCCAGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGCTACAGTGAGCTGAGATCGTGCCATTGCACTCCAACCTGGGTGACAGAGTGAGAGAGAGAAAAAAAAAAAATATATATATATATATATGTATTCTTACTGCTTTGGTATACTAATATCTCTGCCTGACAGTTTACAATGACACACCAGTTACTCTGGGAGTATATCTTACCAAGAAGGAACAGAAAAAACTTCGGAGACAAACAAGGAGGGAAGCACAGAAGGAACTACAAGAAAAAGTCAGGCTGGGCCTGATGCCTCCTCCAGAACCCAAAGGTGCATTTCTCAGTGGCCTCTTCTGTTAAAAAGAGTGGCAAGTTTATGTCTTTAATCCTGGAGGAACTTTAACATCTCTGTGTTTGAGTGATTTCTGTTTCTAAGAATTATTCTTGGGGTCCTTTTTCTCCAAGTTTTCTACCATCTTTTCATATTAAGATAGGTCAACACATTCATTATAGAGGCCATTTATGGCTTATTTTTAAGCATACTGATCATACAACACTCTGGTTTTCCTGGAAGAATACAGGTCTTGAAATTCATGGAGATAGTAGTTGCAGTATTTGCGTAGACTTTTTATGTACATAATTCTTAATGTTTTAATTTTTACAATGAAAGTACAGGATAAAAAACTTGACCCTGTAGTTACATTCTCGTTCAGCAGTATTTTGACTGAGCACTATTATTTATAAGCTCTTTCACTAGATGCTGTGATCAGTGTGAAAAATATGAAAGGAATTAAGTTCCACGTCCTTCATAAATTTTCAGATAATGTAAATGCATACCAATCTTCAACTTAATTGTGTGAACTTCTGCAAATGCTGAAGTGATTGGATGGGATTTTCAAGATAGGAGTTATTGGAGGAAGTGAGTTTAGAGCAGAGATTTGAAATAGGTAAATAATATGAATTGGTATGGAAGAAATAACAAGTTACTCCAGCTGGAGAAGTGACTTCAAAGACTGATTGTTGTCCTCTCTTCACTGCAGTGAGAATTTCTAATTTGATGCGAGTATTAGGAACAGAAGCTGTTCAAGACCCCACGAAGGTAGAAGCCCACGTCAGAGCTCAGATGGCAAAAAGACAGAAGTAAGTGCCATGGGATTGGGTGGAAACCTCGGGCAAGTACCTTTCCCAAACTCTTCTGGGGGGTCCATATTTGGAGGGAGGGGAGAGTTCTCCGTTGCTCTCTCTTTCCCTCAGCCCTGCCTCTGATCTTCAATGCCTTTCTCACTTGTGGATGTCCTTCCTGTCACGACAGAGCGCATGAAGAGGCCAACGCTGCCCGAAAACTCACAGCAGAACAGAGAAAGGTCAAGAAAATTAAAAAGCTTAAAGAAGACATTTCACAGGGGGTACACATATCTGTATATAGGTAGGTGTCCATACTGGGCCAAACTTCCCCTTAGAATTACTAAAACATTTTCCAAGTGCTTGAGGCAGAATCATTGTGGCCTAAAAGCATACCTAACACCAGTTCCTACTCTCTTTTAATGACCCTAGTGTGGATCAAGAGCTAGTAAATCTTGTAAAATAGCGAGAGTTAATGACTTATGTTTATGGTTACCCAGTTCTTCCCTCTCAAGTCTTCTTTTTTTTTTTACCAGAATATTAGTTCTGAACAAGTCAATATACTTGTTCAGGCCAAGATGTGAACTAAAGATTGTATGTCCTTTGAGAACTATAAAATATCATCCTATTTCTTTTTTTTTTCATCTTTTTTTTTTTAAATGGTCTGAGTTTGCTTCCAACATCCATGGAAGCATTACAAATTTTCTTTCCTCCGTAGTCATATCCTTACCCTGATGTATTGCTGTGTTTCATCCTCACTCCAAAATGCATTTTATATGTTGTAAATATTTTTCTACCTTTGTGTTGATTTAATGTTTTTATTCTTTTATGTTGAGTACATGTGTATCTTCTATTTTTAAAATGTGCTTATTTCTATTAACTAGTTCTTTATTATAAAAGTGGTACATTATCACAAAAATAGTGAATGCTTATTAAGATTTAAAAAATTGTCTGACAACACAGAAGAATACTTACTCAAAATGTCTCCTTTCTATTCTCTGATCCCTTAGAACCACTCTCTTTAGGTAATTGCTATTAACAGTTTTTCACATATCCTCCTAGAAAATTTTCATGCCTATATAGTGATCCTATATATATATTTTATTTATTTATTT
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Task1_train_1530
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The gene PRPF3 (pre-mRNA processing factor 3) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Retinitis pigmentosa 18
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GGGCAGATCACGAGGTCAAGAAATCAACACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCTTCATTTTCTATTTAAAGTTTATACACACACACACACACACACATGTTTTTTGAAATGGAGTCTCGCTGTGTTGCCAGGCTAGAGTGCAGTGGCAAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGTCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCCGTGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACCGCACCTGGCCTCAATATATTTTTTACATAAAATGTTTATAATAGAGTTGGGTCTCACTTGGTTGTCCAGGCTGGTCTCGAACTCTTGGGCTCACGCCATCCTCCCACCTTGGCCTATCAAAGTGCTAGAATTACAGGCATAAGCCACTGTGTCCAGCCTAAAGTTTCTTTTAATGATATTGATATTTACCTAGGTTTCTTTAATATTTTTATTGCTGTCCGGGCCTGGTGGCTCATGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACATTAGCCAGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGCTACAGTGAGCTGAGATCGTGCCATTGCACTCCAACCTGGGTGACAGAGTGAGAGAGAGAAAAAAAAAAAATATATATATATATATATGTATTCTTACTGCTTTGGTATACTAATATCTCTGCCTGACAGTTGACAATGACACACCAGTTACTCTGGGAGTATATCTTACCAAGAAGGAACAGAAAAAACTTCGGAGACAAACAAGGAGGGAAGCACAGAAGGAACTACAAGAAAAAGTCAGGCTGGGCCTGATGCCTCCTCCAGAACCCAAAGGTGCATTTCTCAGTGGCCTCTTCTGTTAAAAAGAGTGGCAAGTTTATGTCTTTAATCCTGGAGGAACTTTAACATCTCTGTGTTTGAGTGATTTCTGTTTCTAAGAATTATTCTTGGGGTCCTTTTTCTCCAAGTTTTCTACCATCTTTTCATATTAAGATAGGTCAACACATTCATTATAGAGGCCATTTATGGCTTATTTTTAAGCATACTGATCATACAACACTCTGGTTTTCCTGGAAGAATACAGGTCTTGAAATTCATGGAGATAGTAGTTGCAGTATTTGCGTAGACTTTTTATGTACATAATTCTTAATGTTTTAATTTTTACAATGAAAGTACAGGATAAAAAACTTGACCCTGTAGTTACATTCTCGTTCAGCAGTATTTTGACTGAGCACTATTATTTATAAGCTCTTTCACTAGATGCTGTGATCAGTGTGAAAAATATGAAAGGAATTAAGTTCCACGTCCTTCATAAATTTTCAGATAATGTAAATGCATACCAATCTTCAACTTAATTGTGTGAACTTCTGCAAATGCTGAAGTGATTGGATGGGATTTTCAAGATAGGAGTTATTGGAGGAAGTGAGTTTAGAGCAGAGATTTGAAATAGGTAAATAATATGAATTGGTATGGAAGAAATAACAAGTTACTCCAGCTGGAGAAGTGACTTCAAAGACTGATTGTTGTCCTCTCTTCACTGCAGTGAGAATTTCTAATTTGATGCGAGTATTAGGAACAGAAGCTGTTCAAGACCCCACGAAGGTAGAAGCCCACGTCAGAGCTCAGATGGCAAAAAGACAGAAGTAAGTGCCATGGGATTGGGTGGAAACCTCGGGCAAGTACCTTTCCCAAACTCTTCTGGGGGGTCCATATTTGGAGGGAGGGGAGAGTTCTCCGTTGCTCTCTCTTTCCCTCAGCCCTGCCTCTGATCTTCAATGCCTTTCTCACTTGTGGATGTCCTTCCTGTCACGACAGAGCGCATGAAGAGGCCAACGCTGCCCGAAAACTCACAGCAGAACAGAGAAAGGTCAAGAAAATTAAAAAGCTTAAAGAAGACATTTCACAGGGGGTACACATATCTGTATATAGGTAGGTGTCCATACTGGGCCAAACTTCCCCTTAGAATTACTAAAACATTTTCCAAGTGCTTGAGGCAGAATCATTGTGGCCTAAAAGCATACCTAACACCAGTTCCTACTCTCTTTTAATGACCCTAGTGTGGATCAAGAGCTAGTAAATCTTGTAAAATAGCGAGAGTTAATGACTTATGTTTATGGTTACCCAGTTCTTCCCTCTCAAGTCTTCTTTTTTTTTTTACCAGAATATTAGTTCTGAACAAGTCAATATACTTGTTCAGGCCAAGATGTGAACTAAAGATTGTATGTCCTTTGAGAACTATAAAATATCATCCTATTTCTTTTTTTTTTCATCTTTTTTTTTTTAAATGGTCTGAGTTTGCTTCCAACATCCATGGAAGCATTACAAATTTTCTTTCCTCCGTAGTCATATCCTTACCCTGATGTATTGCTGTGTTTCATCCTCACTCCAAAATGCATTTTATATGTTGTAAATATTTTTCTACCTTTGTGTTGATTTAATGTTTTTATTCTTTTATGTTGAGTACATGTGTATCTTCTATTTTTAAAATGTGCTTATTTCTATTAACTAGTTCTTTATTATAAAAGTGGTACATTATCACAAAAATAGTGAATGCTTATTAAGATTTAAAAAATTGTCTGACAACACAGAAGAATACTTACTCAAAATGTCTCCTTTCTATTCTCTGATCCCTTAGAACCACTCTCTTTAGGTAATTGCTATTAACAGTTTTTCACATATCCTCCTAGAAAATTTTCATGCCTATATAGTGATCCTATATATATATTTTATTTATTTATTTATTTATTTTGAGACGGAGTTTCAGTCTTGTTGCCCAGGCAGGAGTGCAATGGCGCGATCTCAGCGCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACGCACCCCCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCGTGATCTGCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAAGTAATCCTATATTATAAGAGTCTAAGGGTCTAGAGGACAAAAAGTCTGTAGGTCTTTACATTGTCAAGAACAATGAGATTGTAAGTATTTTTGGATGATAGTAAATACCTCTCCCTGACTCTTAGAGTAAACTTTGGTTAGTAATGTAATGGTTAATGTAAAGTGCTAGACTTTGAAGAAATGTAAGAGTGTGGAAATATTTCTAGACTCATCAACTCTACCTTTTAAGCATTCATCTATTTGTTTACTCCAGAGGCCTTTGTTTATAGAGAGGAAACCATTTTGGATTCATCTTTTTACTTGCCACTCCATTCAGGCAGCTGCTGATGCTAAAATGGAAGACATAACTAAACTTTCCCTTCTCCAGAGTTCGAAATTTGAGCAACCCAGCCAAGAAGTTCAAGATTGAAGCCAATGCTGGGCAACTGTACCTGACAGGGGTGGTGGTACTGCACAAGGATGTCAACGTGGTAGTAGTGGAAGGGGGTGAGTCTGAAAAACTTGAGGGAGACTGTCCCCAGACAACCCTAGGCTTAGAGTGATTAGCATTGTGGGGAGAAAGGAGAAAAAGATCGTATTTTAGTGCCATACCTGATAT
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GGGCAGATCACGAGGTCAAGAAATCAACACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCTTCATTTTCTATTTAAAGTTTATACACACACACACACACACACATGTTTTTTGAAATGGAGTCTCGCTGTGTTGCCAGGCTAGAGTGCAGTGGCAAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGTCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCCGTGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACCGCACCTGGCCTCAATATATTTTTTACATAAAATGTTTATAATAGAGTTGGGTCTCACTTGGTTGTCCAGGCTGGTCTCGAACTCTTGGGCTCACGCCATCCTCCCACCTTGGCCTATCAAAGTGCTAGAATTACAGGCATAAGCCACTGTGTCCAGCCTAAAGTTTCTTTTAATGATATTGATATTTACCTAGGTTTCTTTAATATTTTTATTGCTGTCCGGGCCTGGTGGCTCATGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACATTAGCCAGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGCTACAGTGAGCTGAGATCGTGCCATTGCACTCCAACCTGGGTGACAGAGTGAGAGAGAGAAAAAAAAAAAATATATATATATATATATGTATTCTTACTGCTTTGGTATACTAATATCTCTGCCTGACAGTTGACAATGACACACCAGTTACTCTGGGAGTATATCTTACCAAGAAGGAACAGAAAAAACTTCGGAGACAAACAAGGAGGGAAGCACAGAAGGAACTACAAGAAAAAGTCAGGCTGGGCCTGATGCCTCCTCCAGAACCCAAAGGTGCATTTCTCAGTGGCCTCTTCTGTTAAAAAGAGTGGCAAGTTTATGTCTTTAATCCTGGAGGAACTTTAACATCTCTGTGTTTGAGTGATTTCTGTTTCTAAGAATTATTCTTGGGGTCCTTTTTCTCCAAGTTTTCTACCATCTTTTCATATTAAGATAGGTCAACACATTCATTATAGAGGCCATTTATGGCTTATTTTTAAGCATACTGATCATACAACACTCTGGTTTTCCTGGAAGAATACAGGTCTTGAAATTCATGGAGATAGTAGTTGCAGTATTTGCGTAGACTTTTTATGTACATAATTCTTAATGTTTTAATTTTTACAATGAAAGTACAGGATAAAAAACTTGACCCTGTAGTTACATTCTCGTTCAGCAGTATTTTGACTGAGCACTATTATTTATAAGCTCTTTCACTAGATGCTGTGATCAGTGTGAAAAATATGAAAGGAATTAAGTTCCACGTCCTTCATAAATTTTCAGATAATGTAAATGCATACCAATCTTCAACTTAATTGTGTGAACTTCTGCAAATGCTGAAGTGATTGGATGGGATTTTCAAGATAGGAGTTATTGGAGGAAGTGAGTTTAGAGCAGAGATTTGAAATAGGTAAATAATATGAATTGGTATGGAAGAAATAACAAGTTACTCCAGCTGGAGAAGTGACTTCAAAGACTGATTGTTGTCCTCTCTTCACTGCAGTGAGAATTTCTAATTTGATGCGAGTATTAGGAACAGAAGATGTTCAAGACCCCACGAAGGTAGAAGCCCACGTCAGAGCTCAGATGGCAAAAAGACAGAAGTAAGTGCCATGGGATTGGGTGGAAACCTCGGGCAAGTACCTTTCCCAAACTCTTCTGGGGGGTCCATATTTGGAGGGAGGGGAGAGTTCTCCGTTGCTCTCTCTTTCCCTCAGCCCTGCCTCTGATCTTCAATGCCTTTCTCACTTGTGGATGTCCTTCCTGTCACGACAGAGCGCATGAAGAGGCCAACGCTGCCCGAAAACTCACAGCAGAACAGAGAAAGGTCAAGAAAATTAAAAAGCTTAAAGAAGACATTTCACAGGGGGTACACATATCTGTATATAGGTAGGTGTCCATACTGGGCCAAACTTCCCCTTAGAATTACTAAAACATTTTCCAAGTGCTTGAGGCAGAATCATTGTGGCCTAAAAGCATACCTAACACCAGTTCCTACTCTCTTTTAATGACCCTAGTGTGGATCAAGAGCTAGTAAATCTTGTAAAATAGCGAGAGTTAATGACTTATGTTTATGGTTACCCAGTTCTTCCCTCTCAAGTCTTCTTTTTTTTTTTACCAGAATATTAGTTCTGAACAAGTCAATATACTTGTTCAGGCCAAGATGTGAACTAAAGATTGTATGTCCTTTGAGAACTATAAAATATCATCCTATTTCTTTTTTTTTTCATCTTTTTTTTTTTAAATGGTCTGAGTTTGCTTCCAACATCCATGGAAGCATTACAAATTTTCTTTCCTCCGTAGTCATATCCTTACCCTGATGTATTGCTGTGTTTCATCCTCACTCCAAAATGCATTTTATATGTTGTAAATATTTTTCTACCTTTGTGTTGATTTAATGTTTTTATTCTTTTATGTTGAGTACATGTGTATCTTCTATTTTTAAAATGTGCTTATTTCTATTAACTAGTTCTTTATTATAAAAGTGGTACATTATCACAAAAATAGTGAATGCTTATTAAGATTTAAAAAATTGTCTGACAACACAGAAGAATACTTACTCAAAATGTCTCCTTTCTATTCTCTGATCCCTTAGAACCACTCTCTTTAGGTAATTGCTATTAACAGTTTTTCACATATCCTCCTAGAAAATTTTCATGCCTATATAGTGATCCTATATATATATTTTATTTATTTATTTATTTATTTTGAGACGGAGTTTCAGTCTTGTTGCCCAGGCAGGAGTGCAATGGCGCGATCTCAGCGCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACGCACCCCCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCGTGATCTGCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAAGTAATCCTATATTATAAGAGTCTAAGGGTCTAGAGGACAAAAAGTCTGTAGGTCTTTACATTGTCAAGAACAATGAGATTGTAAGTATTTTTGGATGATAGTAAATACCTCTCCCTGACTCTTAGAGTAAACTTTGGTTAGTAATGTAATGGTTAATGTAAAGTGCTAGACTTTGAAGAAATGTAAGAGTGTGGAAATATTTCTAGACTCATCAACTCTACCTTTTAAGCATTCATCTATTTGTTTACTCCAGAGGCCTTTGTTTATAGAGAGGAAACCATTTTGGATTCATCTTTTTACTTGCCACTCCATTCAGGCAGCTGCTGATGCTAAAATGGAAGACATAACTAAACTTTCCCTTCTCCAGAGTTCGAAATTTGAGCAACCCAGCCAAGAAGTTCAAGATTGAAGCCAATGCTGGGCAACTGTACCTGACAGGGGTGGTGGTACTGCACAAGGATGTCAACGTGGTAGTAGTGGAAGGGGGTGAGTCTGAAAAACTTGAGGGAGACTGTCCCCAGACAACCCTAGGCTTAGAGTGATTAGCATTGTGGGGAGAAAGGAGAAAAAGATCGTATTTTAGTGCCATACCTGATAT
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Task1_train_1531
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A genetic alteration is present in PRPF3 (pre-mRNA processing factor 3) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Retinal dystrophy
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GAGGTCAAGAAATCAACACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCTTCATTTTCTATTTAAAGTTTATACACACACACACACACACACATGTTTTTTGAAATGGAGTCTCGCTGTGTTGCCAGGCTAGAGTGCAGTGGCAAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGTCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCCGTGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACCGCACCTGGCCTCAATATATTTTTTACATAAAATGTTTATAATAGAGTTGGGTCTCACTTGGTTGTCCAGGCTGGTCTCGAACTCTTGGGCTCACGCCATCCTCCCACCTTGGCCTATCAAAGTGCTAGAATTACAGGCATAAGCCACTGTGTCCAGCCTAAAGTTTCTTTTAATGATATTGATATTTACCTAGGTTTCTTTAATATTTTTATTGCTGTCCGGGCCTGGTGGCTCATGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACATTAGCCAGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGCTACAGTGAGCTGAGATCGTGCCATTGCACTCCAACCTGGGTGACAGAGTGAGAGAGAGAAAAAAAAAAAATATATATATATATATATGTATTCTTACTGCTTTGGTATACTAATATCTCTGCCTGACAGTTGACAATGACACACCAGTTACTCTGGGAGTATATCTTACCAAGAAGGAACAGAAAAAACTTCGGAGACAAACAAGGAGGGAAGCACAGAAGGAACTACAAGAAAAAGTCAGGCTGGGCCTGATGCCTCCTCCAGAACCCAAAGGTGCATTTCTCAGTGGCCTCTTCTGTTAAAAAGAGTGGCAAGTTTATGTCTTTAATCCTGGAGGAACTTTAACATCTCTGTGTTTGAGTGATTTCTGTTTCTAAGAATTATTCTTGGGGTCCTTTTTCTCCAAGTTTTCTACCATCTTTTCATATTAAGATAGGTCAACACATTCATTATAGAGGCCATTTATGGCTTATTTTTAAGCATACTGATCATACAACACTCTGGTTTTCCTGGAAGAATACAGGTCTTGAAATTCATGGAGATAGTAGTTGCAGTATTTGCGTAGACTTTTTATGTACATAATTCTTAATGTTTTAATTTTTACAATGAAAGTACAGGATAAAAAACTTGACCCTGTAGTTACATTCTCGTTCAGCAGTATTTTGACTGAGCACTATTATTTATAAGCTCTTTCACTAGATGCTGTGATCAGTGTGAAAAATATGAAAGGAATTAAGTTCCACGTCCTTCATAAATTTTCAGATAATGTAAATGCATACCAATCTTCAACTTAATTGTGTGAACTTCTGCAAATGCTGAAGTGATTGGATGGGATTTTCAAGATAGGAGTTATTGGAGGAAGTGAGTTTAGAGCAGAGATTTGAAATAGGTAAATAATATGAATTGGTATGGAAGAAATAACAAGTTACTCCAGCTGGAGAAGTGACTTCAAAGACTGATTGTTGTCCTCTCTTCACTGCAGTGAGAATTTCTAATTTGATGCGAGTATTAGGAACAGAAGCTGTTCAAGACCCCACGAAGGTAGAAGCCCACGTCAGAGCTCAGATGGCAAAAAGACAGAAGTAAGTGCCATGGGATTGGGTGGAAACCTCGGGCAAGTACCTTTCCCAAACTCTTCTGGGGGGTCCATATTTGGAGGGAGGGGAGAGTTCTCCGTTGCTCTCTCTTTCCCTCAGCCCTGCCTCTGATCTTCAATGCCTTTCTCACTTGTGGATGTCCTTCCTGTCACGACAGAGCGCATGAAGAGGCCAACGCTGCCCGAAAACTCACAGCAGAACAGAGAAAGGTCAAGAAAATTAAAAAGCTTAAAGAAGACATTTCACAGGGGGTACACATATCTGTATATAGGTAGGTGTCCATACTGGGCCAAACTTCCCCTTAGAATTACTAAAACATTTTCCAAGTGCTTGAGGCAGAATCATTGTGGCCTAAAAGCATACCTAACACCAGTTCCTACTCTCTTTTAATGACCCTAGTGTGGATCAAGAGCTAGTAAATCTTGTAAAATAGCGAGAGTTAATGACTTATGTTTATGGTTACCCAGTTCTTCCCTCTCAAGTCTTCTTTTTTTTTTTACCAGAATATTAGTTCTGAACAAGTCAATATACTTGTTCAGGCCAAGATGTGAACTAAAGATTGTATGTCCTTTGAGAACTATAAAATATCATCCTATTTCTTTTTTTTTTCATCTTTTTTTTTTTAAATGGTCTGAGTTTGCTTCCAACATCCATGGAAGCATTACAAATTTTCTTTCCTCCGTAGTCATATCCTTACCCTGATGTATTGCTGTGTTTCATCCTCACTCCAAAATGCATTTTATATGTTGTAAATATTTTTCTACCTTTGTGTTGATTTAATGTTTTTATTCTTTTATGTTGAGTACATGTGTATCTTCTATTTTTAAAATGTGCTTATTTCTATTAACTAGTTCTTTATTATAAAAGTGGTACATTATCACAAAAATAGTGAATGCTTATTAAGATTTAAAAAATTGTCTGACAACACAGAAGAATACTTACTCAAAATGTCTCCTTTCTATTCTCTGATCCCTTAGAACCACTCTCTTTAGGTAATTGCTATTAACAGTTTTTCACATATCCTCCTAGAAAATTTTCATGCCTATATAGTGATCCTATATATATATTTTATTTATTTATTTATTTATTTTGAGACGGAGTTTCAGTCTTGTTGCCCAGGCAGGAGTGCAATGGCGCGATCTCAGCGCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACGCACCCCCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCGTGATCTGCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAAGTAATCCTATATTATAAGAGTCTAAGGGTCTAGAGGACAAAAAGTCTGTAGGTCTTTACATTGTCAAGAACAATGAGATTGTAAGTATTTTTGGATGATAGTAAATACCTCTCCCTGACTCTTAGAGTAAACTTTGGTTAGTAATGTAATGGTTAATGTAAAGTGCTAGACTTTGAAGAAATGTAAGAGTGTGGAAATATTTCTAGACTCATCAACTCTACCTTTTAAGCATTCATCTATTTGTTTACTCCAGAGGCCTTTGTTTATAGAGAGGAAACCATTTTGGATTCATCTTTTTACTTGCCACTCCATTCAGGCAGCTGCTGATGCTAAAATGGAAGACATAACTAAACTTTCCCTTCTCCAGAGTTCGAAATTTGAGCAACCCAGCCAAGAAGTTCAAGATTGAAGCCAATGCTGGGCAACTGTACCTGACAGGGGTGGTGGTACTGCACAAGGATGTCAACGTGGTAGTAGTGGAAGGGGGTGAGTCTGAAAAACTTGAGGGAGACTGTCCCCAGACAACCCTAGGCTTAGAGTGATTAGCATTGTGGGGAGAAAGGAGAAAAAGATCGTATTTTAGTGCCATACCTGATATAATATGCTAGG
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GAGGTCAAGAAATCAACACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCTTCATTTTCTATTTAAAGTTTATACACACACACACACACACACATGTTTTTTGAAATGGAGTCTCGCTGTGTTGCCAGGCTAGAGTGCAGTGGCAAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGTCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCCGTGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACCGCACCTGGCCTCAATATATTTTTTACATAAAATGTTTATAATAGAGTTGGGTCTCACTTGGTTGTCCAGGCTGGTCTCGAACTCTTGGGCTCACGCCATCCTCCCACCTTGGCCTATCAAAGTGCTAGAATTACAGGCATAAGCCACTGTGTCCAGCCTAAAGTTTCTTTTAATGATATTGATATTTACCTAGGTTTCTTTAATATTTTTATTGCTGTCCGGGCCTGGTGGCTCATGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACATTAGCCAGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGCTACAGTGAGCTGAGATCGTGCCATTGCACTCCAACCTGGGTGACAGAGTGAGAGAGAGAAAAAAAAAAAATATATATATATATATATGTATTCTTACTGCTTTGGTATACTAATATCTCTGCCTGACAGTTGACAATGACACACCAGTTACTCTGGGAGTATATCTTACCAAGAAGGAACAGAAAAAACTTCGGAGACAAACAAGGAGGGAAGCACAGAAGGAACTACAAGAAAAAGTCAGGCTGGGCCTGATGCCTCCTCCAGAACCCAAAGGTGCATTTCTCAGTGGCCTCTTCTGTTAAAAAGAGTGGCAAGTTTATGTCTTTAATCCTGGAGGAACTTTAACATCTCTGTGTTTGAGTGATTTCTGTTTCTAAGAATTATTCTTGGGGTCCTTTTTCTCCAAGTTTTCTACCATCTTTTCATATTAAGATAGGTCAACACATTCATTATAGAGGCCATTTATGGCTTATTTTTAAGCATACTGATCATACAACACTCTGGTTTTCCTGGAAGAATACAGGTCTTGAAATTCATGGAGATAGTAGTTGCAGTATTTGCGTAGACTTTTTATGTACATAATTCTTAATGTTTTAATTTTTACAATGAAAGTACAGGATAAAAAACTTGACCCTGTAGTTACATTCTCGTTCAGCAGTATTTTGACTGAGCACTATTATTTATAAGCTCTTTCACTAGATGCTGTGATCAGTGTGAAAAATATGAAAGGAATTAAGTTCCACGTCCTTCATAAATTTTCAGATAATGTAAATGCATACCAATCTTCAACTTAATTGTGTGAACTTCTGCAAATGCTGAAGTGATTGGATGGGATTTTCAAGATAGGAGTTATTGGAGGAAGTGAGTTTAGAGCAGAGATTTGAAATAGGTAAATAATATGAATTGGTATGGAAGAAATAACAAGTTACTCCAGCTGGAGAAGTGACTTCAAAGACTGATTGTTGTCCTCTCTTCACTGCAGTGAGAATTTCTAATTTGATGCGAGTATTAGGAACAGAAGCTGTTCAAGACTCCACGAAGGTAGAAGCCCACGTCAGAGCTCAGATGGCAAAAAGACAGAAGTAAGTGCCATGGGATTGGGTGGAAACCTCGGGCAAGTACCTTTCCCAAACTCTTCTGGGGGGTCCATATTTGGAGGGAGGGGAGAGTTCTCCGTTGCTCTCTCTTTCCCTCAGCCCTGCCTCTGATCTTCAATGCCTTTCTCACTTGTGGATGTCCTTCCTGTCACGACAGAGCGCATGAAGAGGCCAACGCTGCCCGAAAACTCACAGCAGAACAGAGAAAGGTCAAGAAAATTAAAAAGCTTAAAGAAGACATTTCACAGGGGGTACACATATCTGTATATAGGTAGGTGTCCATACTGGGCCAAACTTCCCCTTAGAATTACTAAAACATTTTCCAAGTGCTTGAGGCAGAATCATTGTGGCCTAAAAGCATACCTAACACCAGTTCCTACTCTCTTTTAATGACCCTAGTGTGGATCAAGAGCTAGTAAATCTTGTAAAATAGCGAGAGTTAATGACTTATGTTTATGGTTACCCAGTTCTTCCCTCTCAAGTCTTCTTTTTTTTTTTACCAGAATATTAGTTCTGAACAAGTCAATATACTTGTTCAGGCCAAGATGTGAACTAAAGATTGTATGTCCTTTGAGAACTATAAAATATCATCCTATTTCTTTTTTTTTTCATCTTTTTTTTTTTAAATGGTCTGAGTTTGCTTCCAACATCCATGGAAGCATTACAAATTTTCTTTCCTCCGTAGTCATATCCTTACCCTGATGTATTGCTGTGTTTCATCCTCACTCCAAAATGCATTTTATATGTTGTAAATATTTTTCTACCTTTGTGTTGATTTAATGTTTTTATTCTTTTATGTTGAGTACATGTGTATCTTCTATTTTTAAAATGTGCTTATTTCTATTAACTAGTTCTTTATTATAAAAGTGGTACATTATCACAAAAATAGTGAATGCTTATTAAGATTTAAAAAATTGTCTGACAACACAGAAGAATACTTACTCAAAATGTCTCCTTTCTATTCTCTGATCCCTTAGAACCACTCTCTTTAGGTAATTGCTATTAACAGTTTTTCACATATCCTCCTAGAAAATTTTCATGCCTATATAGTGATCCTATATATATATTTTATTTATTTATTTATTTATTTTGAGACGGAGTTTCAGTCTTGTTGCCCAGGCAGGAGTGCAATGGCGCGATCTCAGCGCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACGCACCCCCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCGTGATCTGCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAAGTAATCCTATATTATAAGAGTCTAAGGGTCTAGAGGACAAAAAGTCTGTAGGTCTTTACATTGTCAAGAACAATGAGATTGTAAGTATTTTTGGATGATAGTAAATACCTCTCCCTGACTCTTAGAGTAAACTTTGGTTAGTAATGTAATGGTTAATGTAAAGTGCTAGACTTTGAAGAAATGTAAGAGTGTGGAAATATTTCTAGACTCATCAACTCTACCTTTTAAGCATTCATCTATTTGTTTACTCCAGAGGCCTTTGTTTATAGAGAGGAAACCATTTTGGATTCATCTTTTTACTTGCCACTCCATTCAGGCAGCTGCTGATGCTAAAATGGAAGACATAACTAAACTTTCCCTTCTCCAGAGTTCGAAATTTGAGCAACCCAGCCAAGAAGTTCAAGATTGAAGCCAATGCTGGGCAACTGTACCTGACAGGGGTGGTGGTACTGCACAAGGATGTCAACGTGGTAGTAGTGGAAGGGGGTGAGTCTGAAAAACTTGAGGGAGACTGTCCCCAGACAACCCTAGGCTTAGAGTGATTAGCATTGTGGGGAGAAAGGAGAAAAAGATCGTATTTTAGTGCCATACCTGATATAATATGCTAGG
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Task1_train_1532
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A variant has been detected on Chromosome 1 in PRPF3 (pre-mRNA processing factor 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Retinitis pigmentosa
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CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCTTCATTTTCTATTTAAAGTTTATACACACACACACACACACACATGTTTTTTGAAATGGAGTCTCGCTGTGTTGCCAGGCTAGAGTGCAGTGGCAAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGTCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCCGTGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACCGCACCTGGCCTCAATATATTTTTTACATAAAATGTTTATAATAGAGTTGGGTCTCACTTGGTTGTCCAGGCTGGTCTCGAACTCTTGGGCTCACGCCATCCTCCCACCTTGGCCTATCAAAGTGCTAGAATTACAGGCATAAGCCACTGTGTCCAGCCTAAAGTTTCTTTTAATGATATTGATATTTACCTAGGTTTCTTTAATATTTTTATTGCTGTCCGGGCCTGGTGGCTCATGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACATTAGCCAGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGCTACAGTGAGCTGAGATCGTGCCATTGCACTCCAACCTGGGTGACAGAGTGAGAGAGAGAAAAAAAAAAAATATATATATATATATATGTATTCTTACTGCTTTGGTATACTAATATCTCTGCCTGACAGTTGACAATGACACACCAGTTACTCTGGGAGTATATCTTACCAAGAAGGAACAGAAAAAACTTCGGAGACAAACAAGGAGGGAAGCACAGAAGGAACTACAAGAAAAAGTCAGGCTGGGCCTGATGCCTCCTCCAGAACCCAAAGGTGCATTTCTCAGTGGCCTCTTCTGTTAAAAAGAGTGGCAAGTTTATGTCTTTAATCCTGGAGGAACTTTAACATCTCTGTGTTTGAGTGATTTCTGTTTCTAAGAATTATTCTTGGGGTCCTTTTTCTCCAAGTTTTCTACCATCTTTTCATATTAAGATAGGTCAACACATTCATTATAGAGGCCATTTATGGCTTATTTTTAAGCATACTGATCATACAACACTCTGGTTTTCCTGGAAGAATACAGGTCTTGAAATTCATGGAGATAGTAGTTGCAGTATTTGCGTAGACTTTTTATGTACATAATTCTTAATGTTTTAATTTTTACAATGAAAGTACAGGATAAAAAACTTGACCCTGTAGTTACATTCTCGTTCAGCAGTATTTTGACTGAGCACTATTATTTATAAGCTCTTTCACTAGATGCTGTGATCAGTGTGAAAAATATGAAAGGAATTAAGTTCCACGTCCTTCATAAATTTTCAGATAATGTAAATGCATACCAATCTTCAACTTAATTGTGTGAACTTCTGCAAATGCTGAAGTGATTGGATGGGATTTTCAAGATAGGAGTTATTGGAGGAAGTGAGTTTAGAGCAGAGATTTGAAATAGGTAAATAATATGAATTGGTATGGAAGAAATAACAAGTTACTCCAGCTGGAGAAGTGACTTCAAAGACTGATTGTTGTCCTCTCTTCACTGCAGTGAGAATTTCTAATTTGATGCGAGTATTAGGAACAGAAGCTGTTCAAGACCCCACGAAGGTAGAAGCCCACGTCAGAGCTCAGATGGCAAAAAGACAGAAGTAAGTGCCATGGGATTGGGTGGAAACCTCGGGCAAGTACCTTTCCCAAACTCTTCTGGGGGGTCCATATTTGGAGGGAGGGGAGAGTTCTCCGTTGCTCTCTCTTTCCCTCAGCCCTGCCTCTGATCTTCAATGCCTTTCTCACTTGTGGATGTCCTTCCTGTCACGACAGAGCGCATGAAGAGGCCAACGCTGCCCGAAAACTCACAGCAGAACAGAGAAAGGTCAAGAAAATTAAAAAGCTTAAAGAAGACATTTCACAGGGGGTACACATATCTGTATATAGGTAGGTGTCCATACTGGGCCAAACTTCCCCTTAGAATTACTAAAACATTTTCCAAGTGCTTGAGGCAGAATCATTGTGGCCTAAAAGCATACCTAACACCAGTTCCTACTCTCTTTTAATGACCCTAGTGTGGATCAAGAGCTAGTAAATCTTGTAAAATAGCGAGAGTTAATGACTTATGTTTATGGTTACCCAGTTCTTCCCTCTCAAGTCTTCTTTTTTTTTTTACCAGAATATTAGTTCTGAACAAGTCAATATACTTGTTCAGGCCAAGATGTGAACTAAAGATTGTATGTCCTTTGAGAACTATAAAATATCATCCTATTTCTTTTTTTTTTCATCTTTTTTTTTTTAAATGGTCTGAGTTTGCTTCCAACATCCATGGAAGCATTACAAATTTTCTTTCCTCCGTAGTCATATCCTTACCCTGATGTATTGCTGTGTTTCATCCTCACTCCAAAATGCATTTTATATGTTGTAAATATTTTTCTACCTTTGTGTTGATTTAATGTTTTTATTCTTTTATGTTGAGTACATGTGTATCTTCTATTTTTAAAATGTGCTTATTTCTATTAACTAGTTCTTTATTATAAAAGTGGTACATTATCACAAAAATAGTGAATGCTTATTAAGATTTAAAAAATTGTCTGACAACACAGAAGAATACTTACTCAAAATGTCTCCTTTCTATTCTCTGATCCCTTAGAACCACTCTCTTTAGGTAATTGCTATTAACAGTTTTTCACATATCCTCCTAGAAAATTTTCATGCCTATATAGTGATCCTATATATATATTTTATTTATTTATTTATTTATTTTGAGACGGAGTTTCAGTCTTGTTGCCCAGGCAGGAGTGCAATGGCGCGATCTCAGCGCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACGCACCCCCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCGTGATCTGCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAAGTAATCCTATATTATAAGAGTCTAAGGGTCTAGAGGACAAAAAGTCTGTAGGTCTTTACATTGTCAAGAACAATGAGATTGTAAGTATTTTTGGATGATAGTAAATACCTCTCCCTGACTCTTAGAGTAAACTTTGGTTAGTAATGTAATGGTTAATGTAAAGTGCTAGACTTTGAAGAAATGTAAGAGTGTGGAAATATTTCTAGACTCATCAACTCTACCTTTTAAGCATTCATCTATTTGTTTACTCCAGAGGCCTTTGTTTATAGAGAGGAAACCATTTTGGATTCATCTTTTTACTTGCCACTCCATTCAGGCAGCTGCTGATGCTAAAATGGAAGACATAACTAAACTTTCCCTTCTCCAGAGTTCGAAATTTGAGCAACCCAGCCAAGAAGTTCAAGATTGAAGCCAATGCTGGGCAACTGTACCTGACAGGGGTGGTGGTACTGCACAAGGATGTCAACGTGGTAGTAGTGGAAGGGGGTGAGTCTGAAAAACTTGAGGGAGACTGTCCCCAGACAACCCTAGGCTTAGAGTGATTAGCATTGTGGGGAGAAAGGAGAAAAAGATCGTATTTTAGTGCCATACCTGATATAATATGCTAGGTCTCTGCTTCTGTGTTTTT
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CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAGCAGAGCGAGACTCCGTCTCAACAAAAGGAAAGATAAGAATGTTTTTTAAAAACATAGCCATATTGCCGGGCACCAGGCCTGAACTGATTTTAATCTTACTGATCCCTTATTAACGAGTTTTCTTCATTTTCTATTTAAAGTTTATACACACACACACACACACACATGTTTTTTGAAATGGAGTCTCGCTGTGTTGCCAGGCTAGAGTGCAGTGGCAAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTGGAGTCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCTTGACCTCGTGATCTGCCCACCCGTGCCTCCCAAAGTGCTGGGATTACAGGTGTGATCCACCGCACCTGGCCTCAATATATTTTTTACATAAAATGTTTATAATAGAGTTGGGTCTCACTTGGTTGTCCAGGCTGGTCTCGAACTCTTGGGCTCACGCCATCCTCCCACCTTGGCCTATCAAAGTGCTAGAATTACAGGCATAAGCCACTGTGTCCAGCCTAAAGTTTCTTTTAATGATATTGATATTTACCTAGGTTTCTTTAATATTTTTATTGCTGTCCGGGCCTGGTGGCTCATGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAACATTAGCCAGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCAGGAGGCAGAGGCTACAGTGAGCTGAGATCGTGCCATTGCACTCCAACCTGGGTGACAGAGTGAGAGAGAGAAAAAAAAAAAATATATATATATATATATGTATTCTTACTGCTTTGGTATACTAATATCTCTGCCTGACAGTTGACAATGACACACCAGTTACTCTGGGAGTATATCTTACCAAGAAGGAACAGAAAAAACTTCGGAGACAAACAAGGAGGGAAGCACAGAAGGAACTACAAGAAAAAGTCAGGCTGGGCCTGATGCCTCCTCCAGAACCCAAAGGTGCATTTCTCAGTGGCCTCTTCTGTTAAAAAGAGTGGCAAGTTTATGTCTTTAATCCTGGAGGAACTTTAACATCTCTGTGTTTGAGTGATTTCTGTTTCTAAGAATTATTCTTGGGGTCCTTTTTCTCCAAGTTTTCTACCATCTTTTCATATTAAGATAGGTCAACACATTCATTATAGAGGCCATTTATGGCTTATTTTTAAGCATACTGATCATACAACACTCTGGTTTTCCTGGAAGAATACAGGTCTTGAAATTCATGGAGATAGTAGTTGCAGTATTTGCGTAGACTTTTTATGTACATAATTCTTAATGTTTTAATTTTTACAATGAAAGTACAGGATAAAAAACTTGACCCTGTAGTTACATTCTCGTTCAGCAGTATTTTGACTGAGCACTATTATTTATAAGCTCTTTCACTAGATGCTGTGATCAGTGTGAAAAATATGAAAGGAATTAAGTTCCACGTCCTTCATAAATTTTCAGATAATGTAAATGCATACCAATCTTCAACTTAATTGTGTGAACTTCTGCAAATGCTGAAGTGATTGGATGGGATTTTCAAGATAGGAGTTATTGGAGGAAGTGAGTTTAGAGCAGAGATTTGAAATAGGTAAATAATATGAATTGGTATGGAAGAAATAACAAGTTACTCCAGCTGGAGAAGTGACTTCAAAGACTGATTGTTGTCCTCTCTTCACTGCAGTGAGAATTTCTAATTTGATGCGAGTATTAGGAACAGAAGCTGTTCAAGACCCCACGAAGGTAGAAGCCCCCGTCAGAGCTCAGATGGCAAAAAGACAGAAGTAAGTGCCATGGGATTGGGTGGAAACCTCGGGCAAGTACCTTTCCCAAACTCTTCTGGGGGGTCCATATTTGGAGGGAGGGGAGAGTTCTCCGTTGCTCTCTCTTTCCCTCAGCCCTGCCTCTGATCTTCAATGCCTTTCTCACTTGTGGATGTCCTTCCTGTCACGACAGAGCGCATGAAGAGGCCAACGCTGCCCGAAAACTCACAGCAGAACAGAGAAAGGTCAAGAAAATTAAAAAGCTTAAAGAAGACATTTCACAGGGGGTACACATATCTGTATATAGGTAGGTGTCCATACTGGGCCAAACTTCCCCTTAGAATTACTAAAACATTTTCCAAGTGCTTGAGGCAGAATCATTGTGGCCTAAAAGCATACCTAACACCAGTTCCTACTCTCTTTTAATGACCCTAGTGTGGATCAAGAGCTAGTAAATCTTGTAAAATAGCGAGAGTTAATGACTTATGTTTATGGTTACCCAGTTCTTCCCTCTCAAGTCTTCTTTTTTTTTTTACCAGAATATTAGTTCTGAACAAGTCAATATACTTGTTCAGGCCAAGATGTGAACTAAAGATTGTATGTCCTTTGAGAACTATAAAATATCATCCTATTTCTTTTTTTTTTCATCTTTTTTTTTTTAAATGGTCTGAGTTTGCTTCCAACATCCATGGAAGCATTACAAATTTTCTTTCCTCCGTAGTCATATCCTTACCCTGATGTATTGCTGTGTTTCATCCTCACTCCAAAATGCATTTTATATGTTGTAAATATTTTTCTACCTTTGTGTTGATTTAATGTTTTTATTCTTTTATGTTGAGTACATGTGTATCTTCTATTTTTAAAATGTGCTTATTTCTATTAACTAGTTCTTTATTATAAAAGTGGTACATTATCACAAAAATAGTGAATGCTTATTAAGATTTAAAAAATTGTCTGACAACACAGAAGAATACTTACTCAAAATGTCTCCTTTCTATTCTCTGATCCCTTAGAACCACTCTCTTTAGGTAATTGCTATTAACAGTTTTTCACATATCCTCCTAGAAAATTTTCATGCCTATATAGTGATCCTATATATATATTTTATTTATTTATTTATTTATTTTGAGACGGAGTTTCAGTCTTGTTGCCCAGGCAGGAGTGCAATGGCGCGATCTCAGCGCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACGCACCCCCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCGTGATCTGCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAAGTAATCCTATATTATAAGAGTCTAAGGGTCTAGAGGACAAAAAGTCTGTAGGTCTTTACATTGTCAAGAACAATGAGATTGTAAGTATTTTTGGATGATAGTAAATACCTCTCCCTGACTCTTAGAGTAAACTTTGGTTAGTAATGTAATGGTTAATGTAAAGTGCTAGACTTTGAAGAAATGTAAGAGTGTGGAAATATTTCTAGACTCATCAACTCTACCTTTTAAGCATTCATCTATTTGTTTACTCCAGAGGCCTTTGTTTATAGAGAGGAAACCATTTTGGATTCATCTTTTTACTTGCCACTCCATTCAGGCAGCTGCTGATGCTAAAATGGAAGACATAACTAAACTTTCCCTTCTCCAGAGTTCGAAATTTGAGCAACCCAGCCAAGAAGTTCAAGATTGAAGCCAATGCTGGGCAACTGTACCTGACAGGGGTGGTGGTACTGCACAAGGATGTCAACGTGGTAGTAGTGGAAGGGGGTGAGTCTGAAAAACTTGAGGGAGACTGTCCCCAGACAACCCTAGGCTTAGAGTGATTAGCATTGTGGGGAGAAAGGAGAAAAAGATCGTATTTTAGTGCCATACCTGATATAATATGCTAGGTCTCTGCTTCTGTGTTTTT
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Task1_train_1533
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Located on Chromosome 1, this mutation impacts TARS2 (threonyl-tRNA synthetase 2, mitochondrial). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Combined oxidative phosphorylation defect type 21
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AACATTTATCATTTCTTTGTGTTGGGACTATTTCAAATCTTCTAGCTATTTTGAAATATACAATAAATTATTATTAACTGTATTCACCCAACTCTGCTATGGAACATTAGAGCATATTCCTTCTGTCTAACTCTATTTTTGTACCCATTAGCCAACCTCTTCATCTCCCCTCCCCCATCCTTTCCAGCCTCTGGTAACTATCACTCTATTCTCTACCACTGTGAGATCAACTTTTTAAACTCTCATATAGGAATCAGAACATGTGATATTTTCCTTTTTGTGCCTTGTAACCCTGTCTTTTTCTTCATCCCCACCTTCCACTGCTGAAGTTCAACACTGGCAGATACTGCAGTGGCTGCTCAAGTGAATGGAGAACCTTATGATCTGGAGCGGCCCTTGGAGACAGATTCTGACCTCAGATTTCTGACATTCGATTCCCCAGAGGGGAAAGCAGTAAGTTTCTTTCTTATCAGGAATACAGTGACTACTAAACCAAGAGATATTGAAGCAGGAAATTCTAACATTTTATTCTTTTGCCGCAGTTTCTCCATTTGCAGTTGGGAGGGAGACCTACCACAGACTGTCTTGACTATTTCTGGTTAGGAAACTTATGGTGAAAGTTTTTAACTTAGCTTCGATCTATTAAGCAAACATTTGTGCTAGTGAGAGGGAGAGAGATGATATGTTGAAAAAACGAAAGGATAAATATGTAAATTCAGCCCCCTCAACTCTTGAGCACGTACATTATAAGTCATCTGTAGTGTATATTCAATTCTAACATGGCTTATACAGCTGAGCAAACAACCTGGTCACCTCCCCACCTTGTCTTCTTCATGTCAGCTCAGGTAGCACAGACCTTGCCTATTAGGATCCAGAAAAATAGAGTTCTCCTGCCATCTATGTGTAAATAGTGACCAAATCCAAGAGGAATATATCGCACTAGATTCGTGGGACAGAAAAAAATAGGACTAAAAGACCAAACAGAGACCTAAGTAACCACTGTGTTAAGAAGATAGCTTATTCTGGCCAGGCACAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATAGTAGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACTTGTCATCCCAGCTAATTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCTGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGTCATTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAGAAAAATTATTCTGAAGCCCTAAAAGCTTACAGGAGCAGCAGAAGACTGACTGGCCTCCAGCTTCTATGCTTTGGAACTGGGAAGAACCAAGGATTGAGGGGTGGGGCTGGAGCTTCTATGCACTGAAAGAAGAAAAAATACTGGCCTTCTTTCTTTTCTATTCAGTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGTTCACTGCAACTTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGACACACGCCACCATGCCTGGCTAGTTTTGTATGTTTTAGCAGAGACAGGGTTTCACCATGTTGGCCAGACTGGCCTCGAACTCCTGACCTCAGATGATCCGCCTGCCTTGACCTCCTGAAGTGTTGGGGTTACAGGCATGAGCTGCTGTGCCCAGCCTTTTTTTTTAAGCTTGTTACTTTTTAGTGGTCACCCCCAAAATCTAGGATCCCCATTTTGTGGTAGTTATTCCTAGAAGAACCATACCGGCTTTCCTACCAGCTTTTGTGAGGAAGAGCTCAGAGATCTAGGGGTTAAGGGAGAAGTTTATGAACTTGTGAACCCCTTTTTTGTGAACCCAGGTGTTCTGGCACTCCAGCACCCATGTCCTGGGGGCAGCAGCTGAACAATTCCTAGGTGCTGTTCTCTGCAGAGGTCCAAGTACAGAATATGGCTTTTACCATGATTTCTTCCTGGGAAAGGAGAGGTGAGTAATGAAAGGAAGGAGGAGAATGATTCTGGGATGGTTTCTGAGGCTCTTTTCAGGGGCCTTGGGCATGCTCCATTTGGATGAGGAAGCTGGAGGAGAAGGGTTTCTCTAGGTCTCAACTATGACATTAGTATCTCCTTCTGTGCTAGTCCATGTCCCTCTTCTAACTTTGCTTGAAATTTACCTTCTTGGCTGGTGCACATGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCTGGGAGGTTGAGGCTGTGGTGAGCCATGATCTTAACCACTGCACCCAACTTGTGTGACACAGCAAGACACTTTCTCAAAAAAAAAACAAAAAGAAAAAGAAGAAACAACTTACTTTGTTACTTGTTAGCTTTCATAAATTCAAGTTTTACTTAATCGCCCTCATTACTATTGTTCTAACTTTGTCTATCCAGATTTCCTGCATTCAACTTTTAACTTCATGCATAGAGCTTTTTCTCCAGCTGTAATATCTGTTACCTGATATCCTATTTATATTTTCTCTGAGTTTGTCTGTCTTTGCCTATAACTCTAGATTTCTCTTGAAGGACAGGACCTTACCCGCTAGCCAACAGGTGTGTCACCCAGGTGATTGATGCACCTCATAGGATGCAACCCAACCAATTCTCCTCTTTCCAGGACAATCCGGGGCTCAGAGCTGCCTGTTTTGGAGCGGATTTGCCAGGAACTTACAGCTGCTGCTCGACCCTTCCGGAGGCTAGAGGCTTCACGGGATCAGCTTCGCCAGTTGTTCAAGGTGGGGTGGAGGGAAGAGGTGGCTCTTCCAGGACATCTTTGTGGGAATAAACACTTTTCTTCAATCTCCCTTCTACCTTTTTCCAGGATAACCCCTTTAAGCTTCACTTGATTGAGGAGAAAGTGACAGGTCCAACAGCAACAGTATATGGGTAAGAGTTGTCAAGATTAAGGCAAACAGAGAGGTGGGGAAGCATTGAAGAAGGCCAGAAATGCGATAAGGGAAGAAAGATAGAAGGTAATTTGTGTTGCTCCAGAAAAAGAAATGGGAATGGGAATTGATTTTTTTTTTTTCTTTTTTTGAGACGGAGTCTTGGTCTGTCTCCCAGGCTGGAGTGCGGTAGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCAGAGTGGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTTGTTCTGTCACCCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCACTGCATCTCTGCCTCCCGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCATGCACCACCATGCCTAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATATTGTCCAGGCTGGTCTCGAACTCCTGACCACGTGATCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTATAGACATGAGCCACCGCGCCCTGCCAGGGAATTGATTTTTATCTGCCATTGCCCTCTCTCAGTAGGACAGTTCCTTTCTCTTCACCTCTTCTGTCAGCTAAAGACCATGAGAGGGAGAAAGCTAGAAGCTGAAGATTCTGAAAATCACTAACTGGCCTCTTCTTTCTCCTAGGTGTGGCACATTGGTTGACCTTTGCCAGGGCCCCCACCTTCGGCATACTGGACAGATTGGAGGACTGAAGCTGCTATCGGTCAGTTGTGGGACAGAGTTAGGTTAAGATTCCTATTTTGAGCCGGGCATGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGATGGATCATAAAGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCTAGCTGCTCGGGAGGCTGAGACAGGAGAGTTGCCTGA
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AACATTTATCATTTCTTTGTGTTGGGACTATTTCAAATCTTCTAGCTATTTTGAAATATACAATAAATTATTATTAACTGTATTCACCCAACTCTGCTATGGAACATTAGAGCATATTCCTTCTGTCTAACTCTATTTTTGTACCCATTAGCCAACCTCTTCATCTCCCCTCCCCCATCCTTTCCAGCCTCTGGTAACTATCACTCTATTCTCTACCACTGTGAGATCAACTTTTTAAACTCTCATATAGGAATCAGAACATGTGATATTTTCCTTTTTGTGCCTTGTAACCCTGTCTTTTTCTTCATCCCCACCTTCCACTGCTGAAGTTCAACACTGGCAGATACTGCAGTGGCTGCTCAAGTGAATGGAGAACCTTATGATCTGGAGCGGCCCTTGGAGACAGATTCTGACCTCAGATTTCTGACATTCGATTCCCCAGAGGGGAAAGCAGTAAGTTTCTTTCTTATCAGGAATACAGTGACTACTAAACCAAGAGATATTGAAGCAGGAAATTCTAACATTTTATTCTTTTGCCGCAGTTTCTCCATTTGCAGTTGGGAGGGAGACCTACCACAGACTGTCTTGACTATTTCTGGTTAGGAAACTTATGGTGAAAGTTTTTAACTTAGCTTCGATCTATTAAGCAAACATTTGTGCTAGTGAGAGGGAGAGAGATGATATGTTGAAAAAACGAAAGGATAAATATGTAAATTCAGCCCCCTCAACTCTTGAGCACGTACATTATAAGTCATCTGTAGTGTATATTCAATTCTAACATGGCTTATACAGCTGAGCAAACAACCTGGTCACCTCCCCACCTTGTCTTCTTCATGTCAGCTCAGGTAGCACAGACCTTGCCTATTAGGATCCAGAAAAATAGAGTTCTCCTGCCATCTATGTGTAAATAGTGACCAAATCCAAGAGGAATATATCGCACTAGATTCGTGGGACAGAAAAAAATAGGACTAAAAGACCAAACAGAGACCTAAGTAACCACTGTGTTAAGAAGATAGCTTATTCTGGCCAGGCACAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATAGTAGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACTTGTCATCCCAGCTAATTGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCTGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGTCATTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAGAAAAATTATTCTGAAGCCCTAAAAGCTTACAGGAGCAGCAGAAGACTGACTGGCCTCCAGCTTCTATGCTTTGGAACTGGGAAGAACCAAGGATTGAGGGGTGGGGCTGGAGCTTCTATGCACTGAAAGAAGAAAAAATACTGGCCTTCTTTCTTTTCTATTCAGTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGTTCACTGCAACTTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGACACACGCCACCATGCCTGGCTAGTTTTGTATGTTTTAGCAGAGACAGGGTTTCACCATGTTGGCCAGACTGGCCTCGAACTCCTGACCTCAGATGATCCGCCTGCCTTGACCTCCTGAAGTGTTGGGGTTACAGGCATGAGCTGCTGTGCCCAGCCTTTTTTTTTAAGCTTGTTACTTTTTAGTGGTCACCCCCAAAATCTAGGATCCCCATTTTGTGGTAGTTATTCCTAGAAGAACCATACCGGCTTTCCTACCAGCTTTTGTGAGGAAGAGCTCAGAGATCTAGGGGTTAAGGGAGAAGTTTATGAACTTGTGAACCCCTTTTTTGTGAACCCAGGTGTTCTGGCACTCCAGCACCCATGTCCTGGGGGCAGCAGCTGAACAATTCCTAGGTGCTGTTCTCTGCAGAGGTCCAAGTAGAGAATATGGCTTTTACCATGATTTCTTCCTGGGAAAGGAGAGGTGAGTAATGAAAGGAAGGAGGAGAATGATTCTGGGATGGTTTCTGAGGCTCTTTTCAGGGGCCTTGGGCATGCTCCATTTGGATGAGGAAGCTGGAGGAGAAGGGTTTCTCTAGGTCTCAACTATGACATTAGTATCTCCTTCTGTGCTAGTCCATGTCCCTCTTCTAACTTTGCTTGAAATTTACCTTCTTGGCTGGTGCACATGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGAAGGATCACTTGAGCCTGGGAGGTTGAGGCTGTGGTGAGCCATGATCTTAACCACTGCACCCAACTTGTGTGACACAGCAAGACACTTTCTCAAAAAAAAAACAAAAAGAAAAAGAAGAAACAACTTACTTTGTTACTTGTTAGCTTTCATAAATTCAAGTTTTACTTAATCGCCCTCATTACTATTGTTCTAACTTTGTCTATCCAGATTTCCTGCATTCAACTTTTAACTTCATGCATAGAGCTTTTTCTCCAGCTGTAATATCTGTTACCTGATATCCTATTTATATTTTCTCTGAGTTTGTCTGTCTTTGCCTATAACTCTAGATTTCTCTTGAAGGACAGGACCTTACCCGCTAGCCAACAGGTGTGTCACCCAGGTGATTGATGCACCTCATAGGATGCAACCCAACCAATTCTCCTCTTTCCAGGACAATCCGGGGCTCAGAGCTGCCTGTTTTGGAGCGGATTTGCCAGGAACTTACAGCTGCTGCTCGACCCTTCCGGAGGCTAGAGGCTTCACGGGATCAGCTTCGCCAGTTGTTCAAGGTGGGGTGGAGGGAAGAGGTGGCTCTTCCAGGACATCTTTGTGGGAATAAACACTTTTCTTCAATCTCCCTTCTACCTTTTTCCAGGATAACCCCTTTAAGCTTCACTTGATTGAGGAGAAAGTGACAGGTCCAACAGCAACAGTATATGGGTAAGAGTTGTCAAGATTAAGGCAAACAGAGAGGTGGGGAAGCATTGAAGAAGGCCAGAAATGCGATAAGGGAAGAAAGATAGAAGGTAATTTGTGTTGCTCCAGAAAAAGAAATGGGAATGGGAATTGATTTTTTTTTTTTCTTTTTTTGAGACGGAGTCTTGGTCTGTCTCCCAGGCTGGAGTGCGGTAGCACGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCAGAGTGGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAGTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTTGTTCTGTCACCCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCACTGCATCTCTGCCTCCCGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCATGCACCACCATGCCTAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATATTGTCCAGGCTGGTCTCGAACTCCTGACCACGTGATCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTATAGACATGAGCCACCGCGCCCTGCCAGGGAATTGATTTTTATCTGCCATTGCCCTCTCTCAGTAGGACAGTTCCTTTCTCTTCACCTCTTCTGTCAGCTAAAGACCATGAGAGGGAGAAAGCTAGAAGCTGAAGATTCTGAAAATCACTAACTGGCCTCTTCTTTCTCCTAGGTGTGGCACATTGGTTGACCTTTGCCAGGGCCCCCACCTTCGGCATACTGGACAGATTGGAGGACTGAAGCTGCTATCGGTCAGTTGTGGGACAGAGTTAGGTTAAGATTCCTATTTTGAGCCGGGCATGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGATGGATCATAAAGTCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCTAGCTGCTCGGGAGGCTGAGACAGGAGAGTTGCCTGA
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Task1_train_1534
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A variant affecting Chromosome 1, within the gene TARS2 (threonyl-tRNA synthetase 2, mitochondrial), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Combined oxidative phosphorylation defect type 21
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GGGCAGAAGCAGGTCCAGTAGAGAGTCTGGTGCCCTGCAGTGGGCAGGAAGAGGCTGCAGGGGTGGTAGAGGAAGGAGCACAGCCCTCACAGCCACAAGACTGGGCTCGAGTGGCTGCTGTCCTAGATGCTGGAAATCCTGTATCTAAAAAATGTGACTAATGCCTACCTTGTAGAGATGTATGAAAATTAAACAAATTAACAAATGTTGAAAGCCACCAAAAGAGCACTTGGCACAAAACTGGGATTGAGTACACAGTTTTATTTTTCCTTTCTAGAGAGAATTGAGGATATGGATGGTACCAGAGTCAAACAGCTGGTTGGGTAGAGCAGTGGCTAGAAGGCAAAGTCCACGGAATAACTGGGGGGTCATCTCCAGTAGGAGGCAGAAAGATTGTGGGGTTGGGGATGAATGGGGAGGAGGCCTCAATGTGGAGATGAAATGAGGAGAGGTTGCTGGTAAGAAGTGGAGAGCCCCGAGGCAGGGAAAGGAGGAACAGATGGGGGCATTGAGGGAAAAGAGCATCAGACTGTTCTAGCTCCTTAACTTTCCAGTAAATTAACTTCCTGTCACCAAACCTCTGTTGCAGGCACAGCAGAGCCTGCGGGCTGCAGGACTGGTCAGTGACCTGGATGCAGACTCTGGACTGACCCTCAGCCGGAGAATCCGCCGGGCCCAGCTTGCCCACTACAATTTTCAGTTTGGTAAGCTGAACCTCAGAGCCAATGTTCTCCCACCTGCCGTCTGCATTCTTGCTGTTAAGTTTACCAAGTCTGGTAATGCATATTTGGGTTAATTGGGGCTCATTACCTGAGCAGGTAGGAGCCAGGATTCAGGACACCTGACTCATTTGGGCCCTGTGTTCCTTCACATTGCCCTGCCCTCCCCATAACCACTTCTGACACTCAAAATAGTTTTCCTCTTTTTAACTCCACTCTAGCTGTTGGTGTCTGTTAGGTTAATTAACCAAGGGAGCATCAGAGAGAAAGGGACGGGAGGGTTAATACAGCGTTAATTACCCTTGTTTATTTTAGACCTAGATGGAATCAGCCCTAAGGGATGAGGAGAAAGGCCTTAGGGAGAAAATTCTGGCACTGCCATGCTCCCTTTTTCATTTTCCAGGGTTCAGGGCTCTATCTCAAAGGTGAGGAGCAGAAACTCCTCAGCCAGATTACCTGATTCTTGAGTTTTGCACACCCCACTCTCCCTACAAGCACCCAGAGCAAGCTGTGCTGCAATCCCAGGGACTTGTACATGGCCCCTTTCCCTCCCTTACCGCCCAGTCAGCCCCTGCATACATCCTCCTCAGCAGAGGCCCCTCACTCTGTGAATCCAGCCCTAACAGACACCAAGAGCCAGAGTGGGACTGATGAGAGGAAACTGTTCTAAGGGTCAGAGTGGTTGGGGGGAGGCGGGGCAGTGTGAAGGCCACACCACTCCTGCCACCTTCCACTTGCTCTAATACCCCCTTCAGACACGCGCGCGCACACACACACACACACACACACACACACAGTTTCTCTCTGTGGGGTTCTCATTGTTTGTCTTTCTCTGCTTGACTCTAATGTCTCTGACACACACACACACACACACACACACACACACAGTTTCTCTCTGTGGGGTTCTCAGTGTTTGTCTTTCTCTGCTTGACTCTTATGTCTCTGACCCTGGGGCTCTTGACCAGAAGCGATAAGGCCTGCGGGGACTGAAGCACTTCCTTGTCTCCTCAGGATGAGCAGGACTGGTCATTTAGTATTAGCAGACACAGCTGAATACTTCCTTTCTGTGAACCATATCTGGGCTCTGCTCCCACCCTTCCTAAAGATTTAGGTCTCTCAAGTTTCTGCAGAGCAAAAGAAACTGTTCCATGTGGGTGAATTTGCCCTGAGGTTCCCAAACTTCCTCTACCTGCAGTGGTTGGCCAGAAAGAGCAAAGTAAGAGAACAGTGAACATTCGGACTCGAGATAATCGTCGCCTTGGGGAGTGGGACTTGCCTGAGGCTGTGCAGCGACTGGTGGAGCTACAGAACACGAGGGTCCCAAATGCCGAAGAAATTTTCTGAGCCTTTGTACATAGATGAGGCAAAAACCTGCGAGTGCCATCAGCCTCCCTCACATGGGAGACCCCAACCCAGCTGACAATGTGGAGCCCCCAGAACTTCAGAACTGTGTGGAGGCACATGTCTGCTCTCCTGAAAAGAGACTTGGTTTGGGGACCCCACAAAAGGAGGGAAGCTGTAGCTGTTTGGATGTGAGGAGAATGAAACTACAAAAAAAAATAAATTGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCGGACGGATCATGAGGTCAGGAGATCAAGACCACCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACCCCCCTAGGCGACAGAGCGAGACTCTGTCTCTAAATAAATAAATAAATAAATAAATACAAACTGGAAGCTGCTGGTCATATGTCTTCATCTCTGACTCTGGAGAGGTGGGATAAAAGGATGTTCCACTTTGTCTCCCTCTTTTTTGTCCCAGAGAGTTAGGGAAATTGAAAAGGGACAGTCCAGACCTCACACTGGTAGGGGAGATCCCTTGGATAGGTTTCCTGCTCCCCGCTGTAAACTCCTTTGTGCCCTGTTTCCCCAACCCCAGTTCATGAGTTGGCAGATCCCCTCTCCACAGAAGGCAGCCTGTAGATGGAGAAACTGAGGCACAAACTAGGGGCTCAAACACCTCTTGCTCCTGGATTCTCTGAATCAGTTTCTCTTGAAGGTCATAAGAATGTTCTCCTCTAATCAGTCCCATTCTTCTCAATCCTCTGAGGAGGCTTCAGGGTGACTTTGGGAGGAGTGGCTTCCAGAGGAGGAGCAGCTGGGACTGAGTCATGGCAGGAAGCTGAGGAGGGCGGGAGATCACACCAGACAATTATAAAAGAAGAGCTGGTCCTGAAGCTCACAACCGTAACAGCCACCAGACAAGCTTCAGTGGCCGGCCCTTCACATCCAGACTTGCCTGAGAGGACCCACCTCTGAGTGTCCAGTGGTCAGTTGCCCCAGGATGGGGACCACAGCCAGAGCAGCCTTGGTCTTGACCTATTTGGCTGTTGCTTCTGCTGCCTCTGAGGGAGGTGAGTTGGGGGATCAGCACTTAGGAGGGGGTCTGGGCTTGCATGGCAGGGGTCTGGGTCCAGGCATCCCAGACGGCTCATCACTAGCAGAGTGATTCTCCGTTTGGCTTTCCTTTTCTGAGCAGGCCCAAAGTGGGCCTAGGCCAGTGGAGCCTTTAACCAAGGAGGCAGAGAGCAGGGGCACAGAAGGAGAGGGGTTCCTAGAAACTGCTGCCAAGAAACACAGAATCCCAGTCAAATAGACAACTGAGTGGGGGGTGGGTTCACAGAGTGAGGGTCTCCTGCTGATGAGGATGTAGGGAGGTGGCTGGTGGGAGAGGCAAGGGAGGGAAAAGGGGCCCCCAGGCTGCTCAAAACCGGATTGCTGGCCCAGCAAGCCTCGACTGACTCCCTGTCTGATTAGAGGAGTTGAGGGGTGTCCATCCACAGACCCACCCTCCATCCAGCACAAACACATTCTTTATCTGCTTTGATGCCTGAACAAAACAGGAACCCCTCAATGCTATGGGTGGAAACTAAGAAAAAAAGGAAAAGAAAAGGAAAAAAACCACCCAGGGCACTCCTGCAGGAAGCTGCTGAGGATGTCAGCAAATCTGTCCACTTCTCTGTGAAGCCCCATGCCATCATTCTTCCCAGCTCCTGGTCTTTTGTGTCTGCAGATCACCTACAAGTGACCCTTCCCTGTGCCTGTCCCAGTCCCCCAGGCCCTAAATTGAGACCTAAACTAAGGCGGAGCTGAGACTGGCTGAAGGGGAAGCACTCAACCTTCAGGAAGCCTCCTTAACCAAAGGCCTAAAGATGTTTCAAGGGCCTGGAGT
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GGGCAGAAGCAGGTCCAGTAGAGAGTCTGGTGCCCTGCAGTGGGCAGGAAGAGGCTGCAGGGGTGGTAGAGGAAGGAGCACAGCCCTCACAGCCACAAGACTGGGCTCGAGTGGCTGCTGTCCTAGATGCTGGAAATCCTGTATCTAAAAAATGTGACTAATGCCTACCTTGTAGAGATGTATGAAAATTAAACAAATTAACAAATGTTGAAAGCCACCAAAAGAGCACTTGGCACAAAACTGGGATTGAGTACACAGTTTTATTTTTCCTTTCTAGAGAGAATTGAGGATATGGATGGTACCAGAGTCAAACAGCTGGTTGGGTAGAGCAGTGGCTAGAAGGCAAAGTCCACGGAATAACTGGGGGGTCATCTCCAGTAGGAGGCAGAAAGATTGTGGGGTTGGGGATGAATGGGGAGGAGGCCTCAATGTGGAGATGAAATGAGGAGAGGTTGCTGGTAAGAAGTGGAGAGCCCCGAGGCAGGGAAAGGAGGAACAGATGGGGGCATTGAGGGAAAAGAGCATCAGACTGTTCTAGCTCCTTAACTTTCCAGTAAATTAACTTCCTGTCACCAAACCTCTGTTGCAGGCACAGCAGAGCCTGCGGGCTGCAGGACTGGTCAGTGACCTGGATGCAGACTCTGGACTGACCCTCAGCCGGAGAATCCGCCGGGCCCAGCTTGCCCACTACAATTTTCAGTTTGGTAAGCTGAACCTCAGAGCCAATGTTCTCCCACCTGCCGTCTGCATTCTTGCTGTTAAGTTTACCAAGTCTGGTAATGCATATTTGGGTTAATTGGGGCTCATTACCTGAGCAGGTAGGAGCCAGGATTCAGGACACCTGACTCATTTGGGCCCTGTGTTCCTTCACATTGCCCTGCCCTCCCCATAACCACTTCTGACACTCAAAATAGTTTTCCTCTTTTTAACTCCACTCTAGCTGTTGGTGTCTGTTAGGTTAATTAACCAAGGGAGCATCAGAGAGAAAGGGACGGGAGGGTTAATACAGCGTTAATTACCCTTGTTTATTTTAGACCTAGATGGAATCAGCCCTAAGGGATGAGGAGAAAGGCCTTAGGGAGAAAATTCTGGCACTGCCATGCTCCCTTTTTCATTTTCCAGGGTTCAGGGCTCTATCTCAAAGGTGAGGAGCAGAAACTCCTCAGCCAGATTACCTGATTCTTGAGTTTTGCACACCCCACTCTCCCTACAAGCACCCAGAGCAAGCTGTGCTGCAATCCCAGGGACTTGTACATGGCCCCTTTCCCTCCCTTACCGCCCAGTCAGCCCCTGCATACATCCTCCTCAGCAGAGGCCCCTCACTCTGTGAATCCAGCCCTAACAGACACCAAGAGCCAGAGTGGGACTGATGAGAGGAAACTGTTCTAAGGGTCAGAGTGGTTGGGGGGAGGCGGGGCAGTGTGAAGGCCACACCACTCCTGCCACCTTCCACTTGCTCTAATACCCCCTTCAGACACGCGCGCGCACACACACACACACACACACACACACACAGTTTCTCTCTGTGGGGTTCTCATTGTTTGTCTTTCTCTGCTTGACTCTAATGTCTCTGACACACACACACACACACACACACACACACACAGTTTCTCTCTGTGGGGTTCTCAGTGTTTGTCTTTCTCTGCTTGACTCTTATGTCTCTGACCCTGGGGCTCTTGACCAGAAGCGATAAGGCCTGCGGGGACTGAAGCACTTCCTTGTCTCCTCAGGATGAGCAGGACTGGTCATTTAGTATTAGCAGACACAGCTGAATACTTCCTTTCTGTGAACCATATCTGGGCTCTGCTCCCACCCTTCCTAAAGATTTAGGTCTCTCAAGTTTCTGCAGAGCAAAAGAAACTGTTCCATGTGGGTGAATTTGCCCTGAGGTTCCCAAACTTCCTCTACCTGCAGTGGTTGGCCAGAAAGAGCAAAGTAAGAGAACAGTGAACATTCGGACTCGAGATAATCGTCGCCTTGGGGAGTGGGACTTGCCTGAGGCTGTGCAGCGACTGGTGGAGCTACAGAACACGAGGGTCCCAAATGCCAAAGAAATTTTCTGAGCCTTTGTACATAGATGAGGCAAAAACCTGCGAGTGCCATCAGCCTCCCTCACATGGGAGACCCCAACCCAGCTGACAATGTGGAGCCCCCAGAACTTCAGAACTGTGTGGAGGCACATGTCTGCTCTCCTGAAAAGAGACTTGGTTTGGGGACCCCACAAAAGGAGGGAAGCTGTAGCTGTTTGGATGTGAGGAGAATGAAACTACAAAAAAAAATAAATTGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCGGACGGATCATGAGGTCAGGAGATCAAGACCACCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACCCCCCTAGGCGACAGAGCGAGACTCTGTCTCTAAATAAATAAATAAATAAATAAATACAAACTGGAAGCTGCTGGTCATATGTCTTCATCTCTGACTCTGGAGAGGTGGGATAAAAGGATGTTCCACTTTGTCTCCCTCTTTTTTGTCCCAGAGAGTTAGGGAAATTGAAAAGGGACAGTCCAGACCTCACACTGGTAGGGGAGATCCCTTGGATAGGTTTCCTGCTCCCCGCTGTAAACTCCTTTGTGCCCTGTTTCCCCAACCCCAGTTCATGAGTTGGCAGATCCCCTCTCCACAGAAGGCAGCCTGTAGATGGAGAAACTGAGGCACAAACTAGGGGCTCAAACACCTCTTGCTCCTGGATTCTCTGAATCAGTTTCTCTTGAAGGTCATAAGAATGTTCTCCTCTAATCAGTCCCATTCTTCTCAATCCTCTGAGGAGGCTTCAGGGTGACTTTGGGAGGAGTGGCTTCCAGAGGAGGAGCAGCTGGGACTGAGTCATGGCAGGAAGCTGAGGAGGGCGGGAGATCACACCAGACAATTATAAAAGAAGAGCTGGTCCTGAAGCTCACAACCGTAACAGCCACCAGACAAGCTTCAGTGGCCGGCCCTTCACATCCAGACTTGCCTGAGAGGACCCACCTCTGAGTGTCCAGTGGTCAGTTGCCCCAGGATGGGGACCACAGCCAGAGCAGCCTTGGTCTTGACCTATTTGGCTGTTGCTTCTGCTGCCTCTGAGGGAGGTGAGTTGGGGGATCAGCACTTAGGAGGGGGTCTGGGCTTGCATGGCAGGGGTCTGGGTCCAGGCATCCCAGACGGCTCATCACTAGCAGAGTGATTCTCCGTTTGGCTTTCCTTTTCTGAGCAGGCCCAAAGTGGGCCTAGGCCAGTGGAGCCTTTAACCAAGGAGGCAGAGAGCAGGGGCACAGAAGGAGAGGGGTTCCTAGAAACTGCTGCCAAGAAACACAGAATCCCAGTCAAATAGACAACTGAGTGGGGGGTGGGTTCACAGAGTGAGGGTCTCCTGCTGATGAGGATGTAGGGAGGTGGCTGGTGGGAGAGGCAAGGGAGGGAAAAGGGGCCCCCAGGCTGCTCAAAACCGGATTGCTGGCCCAGCAAGCCTCGACTGACTCCCTGTCTGATTAGAGGAGTTGAGGGGTGTCCATCCACAGACCCACCCTCCATCCAGCACAAACACATTCTTTATCTGCTTTGATGCCTGAACAAAACAGGAACCCCTCAATGCTATGGGTGGAAACTAAGAAAAAAAGGAAAAGAAAAGGAAAAAAACCACCCAGGGCACTCCTGCAGGAAGCTGCTGAGGATGTCAGCAAATCTGTCCACTTCTCTGTGAAGCCCCATGCCATCATTCTTCCCAGCTCCTGGTCTTTTGTGTCTGCAGATCACCTACAAGTGACCCTTCCCTGTGCCTGTCCCAGTCCCCCAGGCCCTAAATTGAGACCTAAACTAAGGCGGAGCTGAGACTGGCTGAAGGGGAAGCACTCAACCTTCAGGAAGCCTCCTTAACCAAAGGCCTAAAGATGTTTCAAGGGCCTGGAGT
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Task1_train_1535
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This alteration occurs within gene ECM1 (extracellular matrix protein 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Lipid proteinosis
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CCTGACTTGCCCTTCTTCCCTCCAGGCTTCACGGCTACAGGACAGAGGCAGCTGAGGCCAGAGCACTTTCAAGAAGGTAAGAGTTTGGGGGAGCAGCATGGGATTGGGACTCCAGGAGGCACTGTGGGCTCTGATGTCTCCCCTCTTGCTTCTAGTTGGCTACGCAGCTCCCCCCTCCCCACCCCTATCCCGAAGCCTCCCCATGGATCACCCTGACTCCTCTCAGCATGGCCCTCCCTTTGAGGGACAGAGTCAAGGTAAGGTCACCATCCCATGCCCTCCTCAGTGACCCTCCAGGTTTCTAATCTGGCCTATATCCCACTTTTCAGGTGGAAAGGAGGGAAGAGGCCCTCGCCCCCACTCCCAGCCCTGGCTAGGAGAAAGGGTGGGCTGCTCACACATTCCCCCTTCTATAGTGCAGCCCCCTCCCTCTCAGGAGGCCACCCCTCTCCAACAGGAAAAGCTGCTACCTGCCCAACTCCCTGCTGAAAAGGAAGGTGAGCGCTTGCCCACCCTCCCTCACCTCTATCCCACTATGGATCCTGTTGACACCAGGCTGATCCCTGCTCCTTGGTGCCCTCACCCCTATCTTGCAGTGGGTCCCCCTCTCCCTCAGGAAGCTGTCCCCCTCCAAAAAGAGCTGCCCTCTCTCCAGCACCCCAATGAACAGAAGGAAGGTAAGCAGCTCCCTCTCTTCTTTACCCACCTTTACCTCATGGCCTTCCCCCAGAGCATGGGCTTCGGGGCAGACAAGACGGTGGGCTCTGCCACTCACCAGTTGTATAACCTTGGGTAAGTTACATACTTCTCCAAGCCTTTGTTTCTTCATCTGTAAAATTGAGGATATACCTGTTTTAGAAAGTTATGTGATTAGATGTGCAAAAATAGCATCTATTTTCACTTGCTTCTCTGCTGAGTTCTTCTTTGTGCATGTAAACTAGCCAGGCTTTCTCTGCTAGAGATGGCCATCCCAACATGGCTTTTGCTTACTCCTTCTACCCAGTAGACCCACCTCTTCCATATCAGGAGGAGATAATCATCCATTCCATGCCGAGAGAGGGTGAGTGACAGCTTTGGTCTGTCCATCCTCCTGCCTTAGTGCTCAGGACCCTGGGGAGAGGAGCAGGAAGCCCGAGCCTTGAGAAGCAGGAGGAGGTGGGGGCAGGCTGTGAGCTGACACCTTTCACACCTCGCTTCTCTTTTCCTTTCAGTTATTTTAAAAGGAAGAGCCACAAATTGTTCTTTCTCATTTCCACTATATCCTCCCAACCCTTTCTCCTCCACCCCAGATTCTTTCAATCCTCCCAGCTCATCCAGCCTTTGTGGGTTCCTTCACATGTCCCCGCTTCCCACTGTTTTCCCCATTCCAGGAACGCCAGCTCCATTTGGGGACCAGAGCCATCCAGAACCTGAGTCCTGGAATGCAGCCCAGCACTGCCAACAGGACCGGTCCCAAGGGGGCTGGGGCCACCGGCTGGATGGCTTCCCCCCTGGGCGGCCTTCTCCAGACAATCTGAACCAAATCTGCCTTCCTAACCGTCAGCATGTGGTATATGGTCCCTGGAACCTACCACAGTCCAGCTACTCCCACCTCACTCGCCAGGGTGAGACCCTCAATTTCCTGGAGATTGGATATTCCCGCTGCTGCCACTGCCGCAGCCACACAAACCGCCTAGAGTGTGCCAAACTTGTGGTAAGGTTGGGTTCTTGATGCCGGGGGGTGTCCTTTAACCCCAGACAGTATGTGTGTTTTAAGGGTTAGAGCACTAGGCCTGGGTCTGGAGGAACCTCAGGTCCCGTTCACTGGCCCTACCCTGGGCCTCCCCAATGTGCCAGGGGAGCAGAGGACAACCACTGTCTCTTCTTTATCTGCCTGCCCAGTGTCCTTTCCTGGAGCCTGGGAGGAAGGCAGGAATGTGGAAAGTGGGCTGATCCTCCCCTCTTGCTCTAGTGGGAGGAAGCAATGAGCCGATTCTGTGAGGCCGAGTTCTCGGTCAAGACCCGACCCCACTGGTGCTGCACGCGGCAGGGGGAGGCTCGGTTCTCCTGCTTCCAGGAGGAAGCTCCCCAGCCACACTACCAGCTCCGGGCCTGCCCCAGCCATCAGCCTGATATTTCCTCGGGTCTTGAGCTGCCTTTCCCTCCTGGGGTGCCCACATTGGACAATATCAAGAACATCTGCCACCTGAGGCGCTTCCGCTCTGTGCCACGCAACCTGCCAGCTACTGACCCCCTACAAAGGGAGCTGCTGGCACTGATCCAGCTGGAGAGGGAGTTCCAGCGCTGCTGCCGCCAGGGGAACAATCACACCTGTACATGGAAGGCCGTAAGTGGGCGTCCCAGCCTCCCTGAGAGCCTGTTTGCCTGCCTGCCCATCTTCGACCTCTGATCCTGCCAGTCCATCCATCCATGTACCCCCCCTGCTGTGAGTGCGTCCACCCGTTCATCTGCTTGTGGCTGTCCGTCCATCCATTGTGTTTGTCACCTGAGTTTGTTCATCTTGAGCTTCGTACTACACTTCTGGCCTCCTCCACTCATGATCCACACACGCATCTGTCTACCATCCATCCATCCGTCCAGCTCTGGCCTCACCTGACCTTCTCCATCCACTGTTCCAGCTCATCTCCCGGCACCAGCTTGGAACCTCATCCAGGCTTCCACCCGTCCACCTTCCCAAGCCCACACATCAACAGTTGCCTCCTAACCCTCTACTTTTTTGCCATTCCCTTTGGGCCTCTCGGGCTGGGAGCCCCTCATCTAGTTGCCAGGGACGATAAGGGAAGTCGATGGTCAGGAGAGAAGGGGCCAAGTGTCCAGCTTCTGACTTCCCTCTCTCTGGTCCACAGTGGGAGGATACCCTTGACAAATACTGTGACCGGGAGTATGCTGTGAAGACCCACCACCACTTGTGTTGCCGCCACCCTCCCAGCCCTACTCGGGATGAGTGCTTTGCCCGTCGGGCTCCTTACCCCAACTATGACCGGGACATCTTGACCATTGACATCGGTCGAGTCACCCCCAACCTCATGGGCCACCTCTGTGGAAACCAAAGAGTTCTCACCAAGCAGTAAGTTGCCTAGTCCTTCCCCACTCTCTTCCTTTCCCGAAAACTTCCTTTTGGGACACCTTTGGGAAAAGCAAAATCATGATATCCCAACCCCATCTGATGCCAGAAGATGCCCAAAGACCCTAACCCCTGCCCCTTTCACACCAACATAGTAAACATATTCCTGGGCTGATCCACAACATGACTGCCCGCTGCTGTGACCTGCCATTTCCAGAACAGGCCTGCTGTGCAGAGGAGGAGGTGAGTGTGTGGAGTCTAGTCTCCAGAGGAATGCAGGGGAGGGGAGGGAAAGAGCTAGAACTGCAGGCCACCCCTTCTCTTTAGTACCTCAAACCAGCCTTTGGTTATAATGACTAGTGGGGGAGGTGTTTTTTTCTTGGTTCCAGAAAAGTCTTCACTCTGACCTGGCCTGCTCCCCATCTCTAAGTTCCTATTATGCCTTCTCCGGGCCACAAGCTTCTGGCATTTCCAGATGTACACATTTGTCAGTCACAAGGAATCCAGCTGTGCAAGGCAGTCTTGTACTCTCTCTGGGCCCCAGGAGGGGAACGAGGGAGAGAGCAGTAGAAGCTGATGAAAGGGGGACTTTGGCACCCAAGTATCTACATCTGTCCTTGGACCACCTCCCCACCCCATCATCTGTTTTACTTTTCTCATTCATCAGAAATTAACCTTCATCAATGATCTGTGTGGTCCCCGACGTAACATCTGGCGAGACCCTGCCCTCTGCTGTTACCTGAGTCCTGGGGATGAACAGGTCAACTGCTTCAACATCAATTATCTGAGGAACGTGGCTCTAGTGTCTGGAGACACTGAGAACGCCAAGGGCCAGGGGGAGCAGGGCTCAACTGGAGGAACAAATATCAGCTCCACCTCTGAGCCCAAGGAAGAATGAGTCACCCCAGAGCCCTAGAGGGTCAGATGGGGGGAACCCCACCCTGCCCCACCCATCTGAACACTCATTACACTAAACACCTCTTGGATTTGGTGTCCTCATTGTCTATCTAATGTCTCACCCGCAGTGTTTTA
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CCTGACTTGCCCTTCTTCCCTCCAGGCTTCACGGCTACAGGACAGAGGCAGCTGAGGCCAGAGCACTTTCAAGAAGGTAAGAGTTTGGGGGAGCAGCATGGGATTGGGACTCCAGGAGGCACTGTGGGCTCTGATGTCTCCCCTCTTGCTTCTAGTTGGCTACGCAGCTCCCCCCTCCCCACCCCTATCCCGAAGCCTCCCCATGGATCACCCTGACTCCTCTCAGCATGGCCCTCCCTTTGAGGGACAGAGTCAAGGTAAGGTCACCATCCCATGCCCTCCTCAGTGACCCTCCAGGTTTCTAATCTGGCCTATATCCCACTTTTCAGGTGGAAAGGAGGGAAGAGGCCCTCGCCCCCACTCCCAGCCCTGGCTAGGAGAAAGGGTGGGCTGCTCACACATTCCCCCTTCTATAGTGCAGCCCCCTCCCTCTCAGGAGGCCACCCCTCTCCAACAGGAAAAGCTGCTACCTGCCCAACTCCCTGCTGAAAAGGAAGGTGAGCGCTTGCCCACCCTCCCTCACCTCTATCCCACTATGGATCCTGTTGACACCAGGCTGATCCCTGCTCCTTGGTGCCCTCACCCCTATCTTGCAGTGGGTCCCCCTCTCCCTCAGGAAGCTGTCCCCCTCCAAAAAGAGCTGCCCTCTCTCCAGCACCCCAATGAACAGAAGGAAGGTAAGCAGCTCCCTCTCTTCTTTACCCACCTTTACCTCATGGCCTTCCCCCAGAGCATGGGCTTCGGGGCAGACAAGACGGTGGGCTCTGCCACTCACCAGTTGTATAACCTTGGGTAAGTTACATACTTCTCCAAGCCTTTGTTTCTTCATCTGTAAAATTGAGGATATACCTGTTTTAGAAAGTTATGTGATTAGATGTGCAAAAATAGCATCTATTTTCACTTGCTTCTCTGCTGAGTTCTTCTTTGTGCATGTAAACTAGCCAGGCTTTCTCTGCTAGAGATGGCCATCCCAACATGGCTTTTGCTTACTCCTTCTACCCAGTAGACCCACCTCTTCCATATCAGGAGGAGATAATCATCCATTCCATGCCGAGAGAGGGTGAGTGACAGCTTTGGTCTGTCCATCCTCCTGCCTTAGTGCTCAGGACCCTGGGGAGAGGAGCAGGAAGCCCGAGCCTTGAGAAGCAGGAGGAGGTGGGGGCAGGCTGTGAGCTGACACCTTTCACACCTCGCTTCTCTTTTCCTTTCAGTTATTTTAAAAGGAAGAGCCACAAATTGTTCTTTCTCATTTCCACTATATCCTCCCAACCCTTTCTCCTCCACCCCAGATTCTTTCAATCCTCCCAGCTCATCCAGCCTTTGTGGGTTCCTTCACATGTCCCCGCTTCCCACTGTTTTCCCCATTCCAGGAACGCCAGCTCCATTTGGGGACCAGAGCCATCCAGAACCTGAGTCCTGGAATGCAGCCCAGCACTGCCAACAGGACCGGTCCCAAGGGGGCTGGGGCCACCGGCTGGATGGCTTCCCCCCTGGGCGGCCTTCTCCAGACAATCTGAACCAAATCTGCCTTCCTAACCGTCAGCATGTGGTATATGGTCCCTGGAACCTACCACAGTCCAGCTACTCCCACCTCACTCGCCAGGGTGAGACCCTCAATTTCCTGGAGATTGGATATTCCCGCTGCTGCCACTGCCGCAGCCACACAAACCGCCTAGAGTGTGCCAAACTTGTGGTAAGGTTGGGTTCTTGATGCCGGGGGGTGTCCTTTAACCCCAGACAGTATGTGTGTTTTAAGGGTTAGAGCACTAGGCCTGGGTCTGGAGGAACCTCAGGTCCCGTTCACTGGCCCTACCCTGGGCCTCCCCAATGTGCCAGGGGAGCAGAGGACAACCACTGTCTCTTCTTTATCTGCCTGCCCAGTGTCCTTTCCTGGAGCCTGGGAGGAAGGCAGGAATGTGGAAAGTGGGCTGATCCTCCCCTCTTGCTCTAGTGGGAGGAAGCAATGAGCCGATTCTGTGAGGCCGAGTTCTCGGTCAAGACCCGACCCCACTGGTGCTGCACGCGGCAGGGGGAGGCTCGGTTCTCCTACTTCCAGGAGGAAGCTCCCCAGCCACACTACCAGCTCCGGGCCTGCCCCAGCCATCAGCCTGATATTTCCTCGGGTCTTGAGCTGCCTTTCCCTCCTGGGGTGCCCACATTGGACAATATCAAGAACATCTGCCACCTGAGGCGCTTCCGCTCTGTGCCACGCAACCTGCCAGCTACTGACCCCCTACAAAGGGAGCTGCTGGCACTGATCCAGCTGGAGAGGGAGTTCCAGCGCTGCTGCCGCCAGGGGAACAATCACACCTGTACATGGAAGGCCGTAAGTGGGCGTCCCAGCCTCCCTGAGAGCCTGTTTGCCTGCCTGCCCATCTTCGACCTCTGATCCTGCCAGTCCATCCATCCATGTACCCCCCCTGCTGTGAGTGCGTCCACCCGTTCATCTGCTTGTGGCTGTCCGTCCATCCATTGTGTTTGTCACCTGAGTTTGTTCATCTTGAGCTTCGTACTACACTTCTGGCCTCCTCCACTCATGATCCACACACGCATCTGTCTACCATCCATCCATCCGTCCAGCTCTGGCCTCACCTGACCTTCTCCATCCACTGTTCCAGCTCATCTCCCGGCACCAGCTTGGAACCTCATCCAGGCTTCCACCCGTCCACCTTCCCAAGCCCACACATCAACAGTTGCCTCCTAACCCTCTACTTTTTTGCCATTCCCTTTGGGCCTCTCGGGCTGGGAGCCCCTCATCTAGTTGCCAGGGACGATAAGGGAAGTCGATGGTCAGGAGAGAAGGGGCCAAGTGTCCAGCTTCTGACTTCCCTCTCTCTGGTCCACAGTGGGAGGATACCCTTGACAAATACTGTGACCGGGAGTATGCTGTGAAGACCCACCACCACTTGTGTTGCCGCCACCCTCCCAGCCCTACTCGGGATGAGTGCTTTGCCCGTCGGGCTCCTTACCCCAACTATGACCGGGACATCTTGACCATTGACATCGGTCGAGTCACCCCCAACCTCATGGGCCACCTCTGTGGAAACCAAAGAGTTCTCACCAAGCAGTAAGTTGCCTAGTCCTTCCCCACTCTCTTCCTTTCCCGAAAACTTCCTTTTGGGACACCTTTGGGAAAAGCAAAATCATGATATCCCAACCCCATCTGATGCCAGAAGATGCCCAAAGACCCTAACCCCTGCCCCTTTCACACCAACATAGTAAACATATTCCTGGGCTGATCCACAACATGACTGCCCGCTGCTGTGACCTGCCATTTCCAGAACAGGCCTGCTGTGCAGAGGAGGAGGTGAGTGTGTGGAGTCTAGTCTCCAGAGGAATGCAGGGGAGGGGAGGGAAAGAGCTAGAACTGCAGGCCACCCCTTCTCTTTAGTACCTCAAACCAGCCTTTGGTTATAATGACTAGTGGGGGAGGTGTTTTTTTCTTGGTTCCAGAAAAGTCTTCACTCTGACCTGGCCTGCTCCCCATCTCTAAGTTCCTATTATGCCTTCTCCGGGCCACAAGCTTCTGGCATTTCCAGATGTACACATTTGTCAGTCACAAGGAATCCAGCTGTGCAAGGCAGTCTTGTACTCTCTCTGGGCCCCAGGAGGGGAACGAGGGAGAGAGCAGTAGAAGCTGATGAAAGGGGGACTTTGGCACCCAAGTATCTACATCTGTCCTTGGACCACCTCCCCACCCCATCATCTGTTTTACTTTTCTCATTCATCAGAAATTAACCTTCATCAATGATCTGTGTGGTCCCCGACGTAACATCTGGCGAGACCCTGCCCTCTGCTGTTACCTGAGTCCTGGGGATGAACAGGTCAACTGCTTCAACATCAATTATCTGAGGAACGTGGCTCTAGTGTCTGGAGACACTGAGAACGCCAAGGGCCAGGGGGAGCAGGGCTCAACTGGAGGAACAAATATCAGCTCCACCTCTGAGCCCAAGGAAGAATGAGTCACCCCAGAGCCCTAGAGGGTCAGATGGGGGGAACCCCACCCTGCCCCACCCATCTGAACACTCATTACACTAAACACCTCTTGGATTTGGTGTCCTCATTGTCTATCTAATGTCTCACCCGCAGTGTTTTA
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Task1_train_1536
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Assess the clinical impact of this variant on gene ADAMTSL4 (ADAMTS like 4), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; not provided
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GCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCCCTACTCAGAGCAGTGAGCAAGCCAAACAGGGGGAAGTCCAGGGCCTAGCCCCTCCCCTCGTGGAAGGAGTGAGGAAGCTGAGAGGGCTTGGGGGGATCTTAGGTTCTGGTGGGAGCTTCTATAGGCTAAGGACACGGTGTGGGAGGAGGAAGGTATTATCACCCTGGAATTTCCCGATCTCTCACCTCTGACCCGCAGCACTTCGTGGCCCTGGGGGCCGGTCCATCATCAATGGGAACTGGGCTGTGGATCCCCCTGGGTCCTACAGGGCCGGCGGGACCGTCTTTCGATATAACCGTCCTCCCAGGGAGGAGGGCAAAGGGGAGAGTCTGTCGGCTGAAGGCCCCACCACCCAGCCTGTGGATGTCTATGTGAGCCTGGGGCCAGGGGCAGCTGAATGCTGGGGAGGGAGGCTGTTCCCTCTGGGCAGAGCTGTGGTTGTCAAGATGGGAGAGAGAGCTGGTGGCATCCTCTTCTGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCGCCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCT
|
GCCAAGCTGCGCTGAGCAGAGCCTGAAGGATCTGATCGGGCACCTGTCCATGTCCCTGGGTCTGGCTGGGGATGGTGGGGCTGTTTTTGTGCTCTCACTTGTGGCACAAAAAGCAGGGTAGTGAGCTGAGGCTCCCGAGGGGACCGGGGTGGGGTTGAGGTGGTGTCTGGCGTTCTGTGGCCACTGCCTCACCTCACTCTCTCCAGAGCCCCGGCTGTGATGGGATCCTTGGCTCTGGCAGGCGTCCTGATGGCTGTGGAGTCTGTGGGGGTGATGATTCTACCTGTCGCCTTGTTTCGGGGAACCTCACTGACCGAGGGGGCCCCCTGGGCTATCAGAAGATCTTGTGGATTCCAGCGGGAGCCTTGCGGCTCCAGATTGCCCAGCTCCGGCCTAGCTCCAACTACCTGGGTGAGCACCCAGCTGCCTCCCCTTCCACTTCCGTCTCTGTTCGGCCCTCCATACCCCTACTCAGAGCAGTGAGCAAGCCAAACAGGGGGAAGTCCAGGGCCTAGCCCCTCCCCTCGTGGAAGGAGTGAGGAAGCTGAGAGGGCTTGGGGGGATCTTAGGTTCTGGTGGGAGCTTCTATAGGCTAAGGACACGGTGTGGGAGGAGGAAGGTATTATCACCCTGGAATTTCCCGATCTCTCACCTCTGACCCGCAGCACTTCGTGGCCCTGGGGGCCGGTCCATCATCAATGGGAACTGGGCTGTGGATCCCCCTGGGTCCTACAGGGCCGGCGGGACCGTCTTTCGATATAACCGTCCTCCCAGGGAGGAGGGCAAAGGGGAGAGTCTGTCGGCTGAAGGCCCCACCACCCAGCCTGTGGATGTCTATGTGAGCCTGGGGCCAGGGGCAGCTGAATGCTGGGGAGGGAGGCTGTTCCCTCTGGGCAGAGCTGTGGTTGTCAAGATGGGAGAGAGAGCTGGTGGCATCCTCTTCTGGCCACCCCCACATATTCATTATCTTCTCTTCTCCCCAGATGATCTTTCAGGAGGAAAACCCAGGCGTTTTTTATCAGTATGTCATCTCTTCACCTCCTCCAATCCTTGAGAACCCCACCCCAGAGCCCCCTGTCCCCCAGCTTCAGCCGGGTAAGACTCTGACCCCTGCACTTGGAAGGAGGAGGGAGAGGCTGCAGGGCTGGCTCGGGGCAGTGGGGTGGCATCTGATTCGCCTGCTCCCCTGCACAGAGATTCTGAGGGTGGAGCCCCCACTTGCTCCGGCACCCCGCCCAGCCCGGACCCCAGGCACCCTCCAGCGTCAGGTGCGGATCCCCCAGATGCCCGCCCCGCCCCATCCCAGGACACCCCTGGGGTCTCCAGCTGCGTACTGGAAACGAGTGGGACACTCTGCATGCTCAGCGTCCTGCGGGAAAGGTGAGACATCACAGTGCGTTCCCCGCATCTCGGTCCAAACCCCCCAACTGACACTCCCGCATCCTGGATTGTGGGGCCACGCCCGACCCTGCGTCTGGGACACCACTGAGCTTGGGCTCTAGCCTCCTGCCTCCCTGGCTGCCTTCTCACCCACTCAGGTGTCTGGCGCCCCATTTTCCTCTGCATCTCCCGTGAGTCGGGAGAGGAACTGGATGAACGCAGCTGTGCCGCGGGTGCCAGGCCCCCAGCCTCCCCTGAACCCTGCCACGGCACCCCATGCCCCCCATAGTGAGTATGGGGGAGCCCACGGGGAGGGTTAGGGTACTGGAAACACAGCAGTTGCCCCCAGAATCTTACCTGAACTCTGCACTCAACGCAACATCTCCTGGCTGCAGAGAGACAACATTAGATTAGAAAGGCAGACATTCGGTAGGCAGCAAGAAAGCCATGGCAGGCTGAGCCCCCCAGGAACCCAGACTCCAAACGCCAAACGTGCCCACTCTCCTCTGAGGCCCCCACGTCCAGTGTGTCTTCCATCTCTGCTGCCACGGCAGCCCCACACATCTCATCTATGTCTCCGCCTCTTCCCTGCCCTGCTGGTGCCTGCAGCTGGGAGGCTGGCGAGTGGACATCCTGCAGCCGCTCCTGTGGCCCCGGCACCCAGCACCACCAGCTGCAGTGCCGGCAGGAATTTGGGGGGGGTGGCTCCTCGGTGCCCCCGGAGCGCTGTGGACATCTCCCCCGGCCCAACATCACCCAGTCTTGCCAGCTGCGCCTCTGTGGCCATTGGGAAGTTGGCTCTCCTTGGAGCCAGGTGAGTTTGCCCAGGCAAGGAGGTGCTGGGGAGGGGAATGGGCACAGGTGAACAACAGCAGTGGTTTTTCAACTTCTTTTTCATCAGCAGAAACTATTTACAAACAGGGTTTCATATGGACCCCCAATATAGAAGTCAGATAAGGGACTGAACCAGGGACTGGGGGCCCAGGGCCCTAGGGCTCAGCCTCCTCCTCAGCCCACGAAGCCATGTGACTGCTGGGCTGGGGATCGAAGGCAGAGCCTGGTTCTGAAGCCTAGAGCTGGAAGCTGGCTGAGAAGGTCTGGGAAGCCCAGCTCCCTGGATTCCCCTCGCCCCCTCAGTGCTCCGTGCGGTGCGGCCGGGGCCAGAGAAGCCGGCAGGTTCGCTGTGTTGGGAACAATGGTGATGAAGTGAGCGAGCAGGAGTGTGCGTCAGGCCCCCCGCAGCCCCCCAGCAGAGAGGCCTGTGACATGGGGCCCTGTACTACTGCCTGGTTCCACAGCGACTGGAGCTCCAAGGTGAGCCCGGAACCCCCAGCCATATCCTGCATCCTGGGTAACCACGCCCAGGACACCTCAGCCTTTCCAGCATAGCTCAATAAACTTGTATTGATCAAGCGCCTGCTATATGCCTGACCCTGGGAACTCAGAGATAAGTGAGAACAACTTCCATGAGGGGCCCGGCTAGGATTCCTCGTCCGGGCCTGGTACCCGGGGACATTCCCAACCACCCAGGATTCGGACCCAGGATGCGTCCCTCCCTGCCCCCCTACTGTCCCTTGTGCCAGTCACCAGCAGGCCCCTCACACAGGCCGCTCTCCTCCTCCGCAGTGCTCAGCCGAGTGTGGGACGGGAATCCAGCGGCGCTCTGTGGTCTGCCTTGGGAGTGGGGCAGCCCTCGGGCCAGGCCAGGGGGAAGCAGGAGCAGGAACTGGGCAGAGCTGTCCAACAGGAAGCCGGCCCCCTGACATGCGCGCCTGCAGCCTGGGGCCCTGTGAGAGAACTTGGCGCTGGTACACAGGGCCCTGGGGTGAGGTAAGCTGAGCGCCTGCTGAGAGCAGGAAGGGGGTGCCAGTCCCAGTGGGATTCCTTGTGGGCACTTGGGGTGCTCTCTGTCCTCCCCTCCCCTCATCACCCTGCCCTCCCCCTACACTAGTGCTCCTCCGAATGTGGCTCTGGCACACAGCGTAGAGACATCATCTGTGTATCCAAACTGGGGACGGAGTTCAACGTGACTTCTCCGAGCAACTGTTCTCACCTCCCCAGGCCCCCTGCCCTGCAGCCCTGTCAAGGGCAGGCCTGCCAGGACCGATGGTTTTCCACGCCCTGGAGCCCAGTGAGTGTCTGGCTGCGCTGTCCTGCCCTGCTCAGCCTGGGCCCCTAGGGGAGGGGAGCTCCTCTCGCTGTACCCCCTCCAGGTCTCTCTGTGCCCCAGAATAAGCCCAGCCAAGCGTTACCACTGTCCTACTTCTTATAGACTTGGAGGAAAGATGGGCCCTCTCCATTTGGGATTTCACAATGTCCTAGGAGGGTCCCCACCACCACCTTTTGGGGAGAGAGGTGGCAGCCAGGGGTTAAGGAGAATCCCGGGCCTGGCAAAGGTCTGATATGATGGCTGGGGTCGCCCCAGTGTTCTCGCTCCTGCCAAGGGGGAACGCAGACACGGGAGGTCCAGTGCCTGAGCACCAACCAGACCCTCAGCACCCGATGCCCTCCTCAACTGCGGCCCTCCAGGAAGCGCCCCTGTAACAGCCAACCCTGCAGCCAGCGCCCTGGTAAAGAGCCCCCTCTCCCCAATCCCCAATACAGTGGATTAGCTGAAGTATGGGAGGAGATGAGAAAGGACCAGTGGGAATGGGCAGCACACCCATTCCCAGACGGGTGGGTCCTGGTGACTCTCTTGTGCCCACTGGCCTCCTCT
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Task1_train_1537
|
Consider this mutation in CTSK (cathepsin K) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Pyknodysostosis
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TCCGCCTCACAGGGTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCGCCTGCCTCAGCCTCTCAGAGTGTTGGGATTACAGGCGTGAGCTAAGGCGCCCGGCCCTAATTTTTTGTTGTTCTTTCTTGTGCTGTGGTGTCATAACCACTGCCTAATTCAAGGTCAGGAAGATTTACCCCTGTGTTTTCTAAGAGTTTTAGCTCTTACCTTTAGGTTTTTAGCCATTTTGAATTAATTTTTTATATGAGGTGGAGTAGTGTTCCAACTTCATTCTTCTCCATGTTGTTATTCAGTTGTCCAGCATGACTTTTTGAAAAGACTATTCTTTCCCACCTTGAATTGTCTTGGCACCCCATGTCAATTGAATGTGGTTTATTTCTACACCCTTAATTCTATTCCATTGATCTGTATGCCTTGACTACTATTGGTTTGAAGTTAAGTTTTGAAATTGAGAAGTGCAAGTCCTCCAACTTTGTTCTTTTTCAAGGTTGTTTTGGCTATTCTGAAGCCCTTGAATGTCCATATGAATCTTAGAGCCAGCTTGCCAATTTCTGCAAGAAAGCCAGCTGAGATTTTAATACAAATTGTGTTAATTCTGTAGATCAATTTGGAGATTATTGCCATATTAACAACAGTGTCATGCTGGGTGCAGTGGCCCACACCTATAATTCCAGCACTTTGGGAGGCCGAGGCGGCCAACATAGGGAGACAAGCTGGTCTCAAACTGCTGGGCTCAGGCGATCCTCTCACCTCGGCCTCCCACAAAATAATTTTTAAAAAATCAGCTAAGCATGGTGGTGTTCACCGTAGTCCAAGCTACTTAGGAGACTGAGGTGGGAAGAACTCTTGAGCCCAGGAGATCAAGGCTGCAGTGAGCTATGAGTGCCACTGACTCCAGCCTGGGCAACAGAGGGAGACCCTGACGAAAGAGAGAGAAAGACAGAGCGAGAGAGAGAGAAAAGAAAAAATAACCTTAAAATGTTTTTCAAGACCCAAGTTTCCATGTCACTTAATTTAGTCTCCCCTCAGGCAGATTAAACACTGAGATCTCCTTATATCCACTTAATCCCAGAAATGTAGTACAGTTCTTGGCACAGAGTAAGAACTCAATATATATTGGCTGAAGGAATGAACAAATAAATGAATTGGGATGAAATGTTTATGTGACAGTCTCTACAACCAGACTGTGAGCGCATCAAGTACATAGAAGATGTTCTATTCATCTTTTTTCCTCCAGCACCTAACACAGTATCCAACACAAAATGAATGTGTACTAGATGCTATTTATTAAACTGTAGACAGGAGATAAATACTTTATTTCAAAAGTGCAAAGAAGGGAAGACAAATCACATTTCTTTTTATCATGTAAACTTGTACCAAAGACTTATGAATAGATTTATGAATTGGAGTAGAAAACATAGACATTTCTACCTTGAGGATATAGAAGGGAACTTAGGAAGTGAGAAGTCAGATTACCCTAGTCCTCTAGGGTGCTTAAAGCTAACTAGTCCCGTGAATGAGAATCTAACCTATGTGAAAATCTCCAGCCTGTACCTGTACAGCATCAGCCCTGGGACAACACAGTCAGGGGCAGGCTGTAGTCACATCTCTTAGCCTAAGAGTACACAGCTGTCAGGGAAAGTCCTGATGGCCACAGTGAAAAAGGTCATGGGTGGAGAGAAGCAAAGTAGGAAGGATCATTTGAAGCACAAACAAATGGGGAAACTGAACAGACAATCTCAGTATCACCACATCTGCTTCAAAAATAGCACACCAACTCCCTTCCAAAGTGCATCGTTACACTGCACCATCGTGGAAGAAATGGAAGAGCAGGATGGATTTGGCTGGCTGGAGTCACATCTTGGGGAAGCTGGCCAGGTTGGCAATGCCACAGGCGTTGTTCTTATTTCGAGCCATGAGGATATATCCTTTGTTTCCCCAGTTTTCTCCCCAGCTGTAAGACCAATCAAGAAAAATACTTAGTACTCTCAGTTTATTTATTCATTAAAATATTTACTGAGTATTGTGCGAGGTACTGATGGTACACAAAAATGAATATGATGTTTTTTAACTTTAAAGAGTTTAAAGTCAAGAAATAGGGAGAAGGCATAATACTGTAGGTATCAAAGGAGGGAAAGATTCCTTCTGATCAAGAGAATCTTAGAGGCTTGATGTAAGAGGTGGCATTTGAGCTGAGCCAAAAGGCTAAGTAGAATTTCGACCTGTGGGAAGGGGATGCCAGTGGAAGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAGTAAACCCCATAGGAGAGATGGATGAAACTATGAGAGTGGATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCT
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TCCGCCTCACAGGGTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCGCCTGCCTCAGCCTCTCAGAGTGTTGGGATTACAGGCGTGAGCTAAGGCGCCCGGCCCTAATTTTTTGTTGTTCTTTCTTGTGCTGTGGTGTCATAACCACTGCCTAATTCAAGGTCAGGAAGATTTACCCCTGTGTTTTCTAAGAGTTTTAGCTCTTACCTTTAGGTTTTTAGCCATTTTGAATTAATTTTTTATATGAGGTGGAGTAGTGTTCCAACTTCATTCTTCTCCATGTTGTTATTCAGTTGTCCAGCATGACTTTTTGAAAAGACTATTCTTTCCCACCTTGAATTGTCTTGGCACCCCATGTCAATTGAATGTGGTTTATTTCTACACCCTTAATTCTATTCCATTGATCTGTATGCCTTGACTACTATTGGTTTGAAGTTAAGTTTTGAAATTGAGAAGTGCAAGTCCTCCAACTTTGTTCTTTTTCAAGGTTGTTTTGGCTATTCTGAAGCCCTTGAATGTCCATATGAATCTTAGAGCCAGCTTGCCAATTTCTGCAAGAAAGCCAGCTGAGATTTTAATACAAATTGTGTTAATTCTGTAGATCAATTTGGAGATTATTGCCATATTAACAACAGTGTCATGCTGGGTGCAGTGGCCCACACCTATAATTCCAGCACTTTGGGAGGCCGAGGCGGCCAACATAGGGAGACAAGCTGGTCTCAAACTGCTGGGCTCAGGCGATCCTCTCACCTCGGCCTCCCACAAAATAATTTTTAAAAAATCAGCTAAGCATGGTGGTGTTCACCGTAGTCCAAGCTACTTAGGAGACTGAGGTGGGAAGAACTCTTGAGCCCAGGAGATCAAGGCTGCAGTGAGCTATGAGTGCCACTGACTCCAGCCTGGGCAACAGAGGGAGACCCTGACGAAAGAGAGAGAAAGACAGAGCGAGAGAGAGAGAAAAGAAAAAATAACCTTAAAATGTTTTTCAAGACCCAAGTTTCCATGTCACTTAATTTAGTCTCCCCTCAGGCAGATTAAACACTGAGATCTCCTTATATCCACTTAATCCCAGAAATGTAGTACAGTTCTTGGCACAGAGTAAGAACTCAATATATATTGGCTGAAGGAATGAACAAATAAATGAATTGGGATGAAATGTTTATGTGACAGTCTCTACAACCAGACTGTGAGCGCATCAAGTACATAGAAGATGTTCTATTCATCTTTTTTCCTCCAGCACCTAACACAGTATCCAACACAAAATGAATGTGTACTAGATGCTATTTATTAAACTGTAGACAGGAGATAAATACTTTATTTCAAAAGTGCAAAGAAGGGAAGACAAATCACATTTCTTTTTATCATGTAAACTTGTACCAAAGACTTATGAATAGATTTATGAATTGGAGTAGAAAACATAGACATTTCTACCTTGAGGATATAGAAGGGAACTTAGGAAGTGAGAAGTCAGATTACCCTAGTCCTCTAGGGTGCTTAAAGCTAACTAGTCCCGTGAATGAGAATCTAACCTATGTGAAAATCTCCAGCCTGTACCTGTACAGCATCAGCCCTGGGACAACACAGTCAGGGGCAGGCTGTAGTCACATCTCTTAGCCTAAGAGTACACAGCTGTCAGGGAAAGTCCTGATGGCCACAGTGAAAAAGGTCATGGGTGGAGAGAAGCAAAGTAGGAAGGATCATTTGAAGCACAAACAAATGGGGAAACTGAACAGACAATCTCAGTATCACCACATCTGCTTCAAAAATAGCACACCAACTCCCTTCCAAAGTGCATCGTTACACTGCACCATCGTGGAAGAAATGGAAGAGCAGGATGGATTTGGCTGGCTGGAGTCACATCTTGGGGAAGCTGGCCAGGTTGGCAATGCCACAGGCGTTGTTCTTATTTCGAGCCATGAGGATATATCCTTTGTTTTCCCAGTTTTCTCCCCAGCTGTAAGACCAATCAAGAAAAATACTTAGTACTCTCAGTTTATTTATTCATTAAAATATTTACTGAGTATTGTGCGAGGTACTGATGGTACACAAAAATGAATATGATGTTTTTTAACTTTAAAGAGTTTAAAGTCAAGAAATAGGGAGAAGGCATAATACTGTAGGTATCAAAGGAGGGAAAGATTCCTTCTGATCAAGAGAATCTTAGAGGCTTGATGTAAGAGGTGGCATTTGAGCTGAGCCAAAAGGCTAAGTAGAATTTCGACCTGTGGGAAGGGGATGCCAGTGGAAGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAGTAAACCCCATAGGAGAGATGGATGAAACTATGAGAGTGGATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCT
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Task1_train_1538
|
The gene CTSK (cathepsin K), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Pyknodysostosis
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CCGCCTCACAGGGTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCGCCTGCCTCAGCCTCTCAGAGTGTTGGGATTACAGGCGTGAGCTAAGGCGCCCGGCCCTAATTTTTTGTTGTTCTTTCTTGTGCTGTGGTGTCATAACCACTGCCTAATTCAAGGTCAGGAAGATTTACCCCTGTGTTTTCTAAGAGTTTTAGCTCTTACCTTTAGGTTTTTAGCCATTTTGAATTAATTTTTTATATGAGGTGGAGTAGTGTTCCAACTTCATTCTTCTCCATGTTGTTATTCAGTTGTCCAGCATGACTTTTTGAAAAGACTATTCTTTCCCACCTTGAATTGTCTTGGCACCCCATGTCAATTGAATGTGGTTTATTTCTACACCCTTAATTCTATTCCATTGATCTGTATGCCTTGACTACTATTGGTTTGAAGTTAAGTTTTGAAATTGAGAAGTGCAAGTCCTCCAACTTTGTTCTTTTTCAAGGTTGTTTTGGCTATTCTGAAGCCCTTGAATGTCCATATGAATCTTAGAGCCAGCTTGCCAATTTCTGCAAGAAAGCCAGCTGAGATTTTAATACAAATTGTGTTAATTCTGTAGATCAATTTGGAGATTATTGCCATATTAACAACAGTGTCATGCTGGGTGCAGTGGCCCACACCTATAATTCCAGCACTTTGGGAGGCCGAGGCGGCCAACATAGGGAGACAAGCTGGTCTCAAACTGCTGGGCTCAGGCGATCCTCTCACCTCGGCCTCCCACAAAATAATTTTTAAAAAATCAGCTAAGCATGGTGGTGTTCACCGTAGTCCAAGCTACTTAGGAGACTGAGGTGGGAAGAACTCTTGAGCCCAGGAGATCAAGGCTGCAGTGAGCTATGAGTGCCACTGACTCCAGCCTGGGCAACAGAGGGAGACCCTGACGAAAGAGAGAGAAAGACAGAGCGAGAGAGAGAGAAAAGAAAAAATAACCTTAAAATGTTTTTCAAGACCCAAGTTTCCATGTCACTTAATTTAGTCTCCCCTCAGGCAGATTAAACACTGAGATCTCCTTATATCCACTTAATCCCAGAAATGTAGTACAGTTCTTGGCACAGAGTAAGAACTCAATATATATTGGCTGAAGGAATGAACAAATAAATGAATTGGGATGAAATGTTTATGTGACAGTCTCTACAACCAGACTGTGAGCGCATCAAGTACATAGAAGATGTTCTATTCATCTTTTTTCCTCCAGCACCTAACACAGTATCCAACACAAAATGAATGTGTACTAGATGCTATTTATTAAACTGTAGACAGGAGATAAATACTTTATTTCAAAAGTGCAAAGAAGGGAAGACAAATCACATTTCTTTTTATCATGTAAACTTGTACCAAAGACTTATGAATAGATTTATGAATTGGAGTAGAAAACATAGACATTTCTACCTTGAGGATATAGAAGGGAACTTAGGAAGTGAGAAGTCAGATTACCCTAGTCCTCTAGGGTGCTTAAAGCTAACTAGTCCCGTGAATGAGAATCTAACCTATGTGAAAATCTCCAGCCTGTACCTGTACAGCATCAGCCCTGGGACAACACAGTCAGGGGCAGGCTGTAGTCACATCTCTTAGCCTAAGAGTACACAGCTGTCAGGGAAAGTCCTGATGGCCACAGTGAAAAAGGTCATGGGTGGAGAGAAGCAAAGTAGGAAGGATCATTTGAAGCACAAACAAATGGGGAAACTGAACAGACAATCTCAGTATCACCACATCTGCTTCAAAAATAGCACACCAACTCCCTTCCAAAGTGCATCGTTACACTGCACCATCGTGGAAGAAATGGAAGAGCAGGATGGATTTGGCTGGCTGGAGTCACATCTTGGGGAAGCTGGCCAGGTTGGCAATGCCACAGGCGTTGTTCTTATTTCGAGCCATGAGGATATATCCTTTGTTTCCCCAGTTTTCTCCCCAGCTGTAAGACCAATCAAGAAAAATACTTAGTACTCTCAGTTTATTTATTCATTAAAATATTTACTGAGTATTGTGCGAGGTACTGATGGTACACAAAAATGAATATGATGTTTTTTAACTTTAAAGAGTTTAAAGTCAAGAAATAGGGAGAAGGCATAATACTGTAGGTATCAAAGGAGGGAAAGATTCCTTCTGATCAAGAGAATCTTAGAGGCTTGATGTAAGAGGTGGCATTTGAGCTGAGCCAAAAGGCTAAGTAGAATTTCGACCTGTGGGAAGGGGATGCCAGTGGAAGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAGTAAACCCCATAGGAGAGATGGATGAAACTATGAGAGTGGATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTC
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CCGCCTCACAGGGTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTAGTAAAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCGCCTGCCTCAGCCTCTCAGAGTGTTGGGATTACAGGCGTGAGCTAAGGCGCCCGGCCCTAATTTTTTGTTGTTCTTTCTTGTGCTGTGGTGTCATAACCACTGCCTAATTCAAGGTCAGGAAGATTTACCCCTGTGTTTTCTAAGAGTTTTAGCTCTTACCTTTAGGTTTTTAGCCATTTTGAATTAATTTTTTATATGAGGTGGAGTAGTGTTCCAACTTCATTCTTCTCCATGTTGTTATTCAGTTGTCCAGCATGACTTTTTGAAAAGACTATTCTTTCCCACCTTGAATTGTCTTGGCACCCCATGTCAATTGAATGTGGTTTATTTCTACACCCTTAATTCTATTCCATTGATCTGTATGCCTTGACTACTATTGGTTTGAAGTTAAGTTTTGAAATTGAGAAGTGCAAGTCCTCCAACTTTGTTCTTTTTCAAGGTTGTTTTGGCTATTCTGAAGCCCTTGAATGTCCATATGAATCTTAGAGCCAGCTTGCCAATTTCTGCAAGAAAGCCAGCTGAGATTTTAATACAAATTGTGTTAATTCTGTAGATCAATTTGGAGATTATTGCCATATTAACAACAGTGTCATGCTGGGTGCAGTGGCCCACACCTATAATTCCAGCACTTTGGGAGGCCGAGGCGGCCAACATAGGGAGACAAGCTGGTCTCAAACTGCTGGGCTCAGGCGATCCTCTCACCTCGGCCTCCCACAAAATAATTTTTAAAAAATCAGCTAAGCATGGTGGTGTTCACCGTAGTCCAAGCTACTTAGGAGACTGAGGTGGGAAGAACTCTTGAGCCCAGGAGATCAAGGCTGCAGTGAGCTATGAGTGCCACTGACTCCAGCCTGGGCAACAGAGGGAGACCCTGACGAAAGAGAGAGAAAGACAGAGCGAGAGAGAGAGAAAAGAAAAAATAACCTTAAAATGTTTTTCAAGACCCAAGTTTCCATGTCACTTAATTTAGTCTCCCCTCAGGCAGATTAAACACTGAGATCTCCTTATATCCACTTAATCCCAGAAATGTAGTACAGTTCTTGGCACAGAGTAAGAACTCAATATATATTGGCTGAAGGAATGAACAAATAAATGAATTGGGATGAAATGTTTATGTGACAGTCTCTACAACCAGACTGTGAGCGCATCAAGTACATAGAAGATGTTCTATTCATCTTTTTTCCTCCAGCACCTAACACAGTATCCAACACAAAATGAATGTGTACTAGATGCTATTTATTAAACTGTAGACAGGAGATAAATACTTTATTTCAAAAGTGCAAAGAAGGGAAGACAAATCACATTTCTTTTTATCATGTAAACTTGTACCAAAGACTTATGAATAGATTTATGAATTGGAGTAGAAAACATAGACATTTCTACCTTGAGGATATAGAAGGGAACTTAGGAAGTGAGAAGTCAGATTACCCTAGTCCTCTAGGGTGCTTAAAGCTAACTAGTCCCGTGAATGAGAATCTAACCTATGTGAAAATCTCCAGCCTGTACCTGTACAGCATCAGCCCTGGGACAACACAGTCAGGGGCAGGCTGTAGTCACATCTCTTAGCCTAAGAGTACACAGCTGTCAGGGAAAGTCCTGATGGCCACAGTGAAAAAGGTCATGGGTGGAGAGAAGCAAAGTAGGAAGGATCATTTGAAGCACAAACAAATGGGGAAACTGAACAGACAATCTCAGTATCACCACATCTGCTTCAAAAATAGCACACCAACTCCCTTCCAAAGTGCATCGTTACACTGCACCATCGTGGAAGAAATGGAAGAGCAGGATGGATTTGGCTGGCTGGAGTCACATCTTGGGGAAGCTGGCCAGGTTGGCAATGCCACAGGCGTTGTTCTTATTTCGAGCCATGAGGATATATCCTTTGTTTCTCCAGTTTTCTCCCCAGCTGTAAGACCAATCAAGAAAAATACTTAGTACTCTCAGTTTATTTATTCATTAAAATATTTACTGAGTATTGTGCGAGGTACTGATGGTACACAAAAATGAATATGATGTTTTTTAACTTTAAAGAGTTTAAAGTCAAGAAATAGGGAGAAGGCATAATACTGTAGGTATCAAAGGAGGGAAAGATTCCTTCTGATCAAGAGAATCTTAGAGGCTTGATGTAAGAGGTGGCATTTGAGCTGAGCCAAAAGGCTAAGTAGAATTTCGACCTGTGGGAAGGGGATGCCAGTGGAAGGGTGTGAAATGAACAACAGAGGCAGGAAAGTGTGGGGCACTGTTAGGATCATGTAGCTGAAAAGCAGTGTGCCTAACAGGGTGTAGTGGGAGAGATGTCTGGAAAGGCAGATTGAGATCAGGTTGAATTACCTTTACTGCAAGGTTAAAAAGCTTCACCTTTACTCTGTGACCCATCATCGTGAGGAGCCAGTGAGGGATTTTGAGTGGGAGAGTGATATGATCAGAGCTGTATTTGGGGAATATTAATCTTGAAAATGTGAGTTTAGAGCATAAGAAAGAGGCTGAAGCTGGTGATCTTGATTTGGGAGTAAACCCCATAGGAGAGATGGATGAAACTATGAGAGTGGATGAGATTACTAAGGAAATGAGTAGCGAGACTAGAAGACAAGAGAGACGACGTGAGAAAGAGGAGAGAGGAGAGATTGTCTGTTTATCTTCCTGAATTGTTTTCAGTCCTCTTTCCCCAACCAGCAACTTCTCTAATTACCCAACACATTTTATTTAAAACCTGTACCCTCCCCCACTCTCCCCTTCTCCAGGGGCCCCCAGTGTTCCTGATCCTGCCCGGGTGTGTCCTTTCTTCCTCCCAGCTCTCTTGGAAGCTATCTCCACACATGGTACCTGATCATGAAAGAACAGGGTAAGTGCTTGGACCTGGGAGTCAAGAGAAGGGACAACACAGGACAGAAGCTGTGGGAGACTTGGGAAGATGCTCAGGTTCACCTTGAGTTGGAACTGTGATATAAAAAGTTGCTTCAGGTTTGAACAACACCACTGCGTGAGTCTGTCAGCGACCCAGAGTCTAGGGCTCCTGCTCCTTGGAGGGCACTAAGGACAGGAGATTTAGCCAGTGCTGCTGCCAGGTTAATGGTGATCAGCCAGGAAAGGAAAACTATAATTGTTATCAATCTGCCCCTCCCCAAAAGTCACAAGGTGCTAAAGAGAAATGGGAAGCAAGGTACCCTGGAGTTTTCTTTGTTCCCCAACATAGGAAAGTAAACACTAACTTTTTTTGTTTATATCTTATTTCTAAAAAATGTTTCTCTTCACAATCTTTGGCAAGTTCTTATATACGTGTATCTTAAGTGTATTTTGAAGGAAAAAAACTGTTCAAAGGAATATTAAACCTTTACGCTGTTCCCCTACTGTTAAAGACAGATTGCTAATGGAAACCATCTAAGAAACTGATCACATTAGAGACAAAAGAAAGTAAAAATACGTAATTCCAAAGCTCCTGCTGGTTCTTTGTACTGCTTTATCTCATGGTTAGTTAGGTCTGTCTTATTGGGCTCTGAGCTCACTGAAGGTGTCATCTGCTCGTTGGTTTATGTATGTCACTAAGCACCTTGCACACAGGGAGCATCTGCCCAGCACATAATTGAGCACTATTGTCTGGCGGATATGGTTTGGATGTGTGTCCCCTCCCAGTCTCATGCTGAAATGTGATCCCCAATGTGGGAGGTGGGGCATAGTGGGAGGTGTTTGGGTTATGAGAGTGGATTCCTCATGAATGGCTTGGTGCCATCGCCTTGGTGATGAGTGAGTTCTCACTCTATTAGTTCATGCAAGAGCTGGTTCTTTAAAGAGTCGGCACCTCCCTCTCTCTCTTGCTCCCTCTCTCACTATGTGACATGCCTGCTCCCTCTTTTGCCTTCTGCCATGAGTAAAAGCTCTGAGGCCTCATCAGAGGCTGAGCAGATACTAGTGCCACGCTTTGTATAGCCAAACAAACCTC
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Task1_train_1539
|
A mutation found in CTSK (cathepsin K) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; not provided
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CTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAACTAGCCGGGCGTGGTTGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGACATGATCACAGCTCACAGCAGCCTTGAACTCCCAGGCTCAAGTTGTCCTCCCAACCAGCCTCCTGAGTAGCTAGAACTATGCACGCCATCATACCTGGCTACTTTTAAAAATTTTTTCTGTAGAGATGAGGTCTTGCTATGTTGTACCAGGCTGATCTGGAACTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTAGCCTCTACAAAAAAAAATTTCAAAGGTTTTTTGAAATTGGTGGGCATGATGGCATGCACCTATATCCTAGCTATTTGGGAGGCTGAGGCGAGAGGATTGCTTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCTATGACTATATCACCACACTCCAGCCTGGGCAACAGAGTAAGACCCTATTTCAAAAAAATAAAAAGAAAAACAAATGAGCAAGAGATAAAAACAGTTAATTCACTGAAGAAGAAATGCAAATGGCCAGATAAACATACTGATAAAAAGGTGATTGAAGGGGATTTCTTACACATTGCAGGTATAAATTTTTCCAAATATTTTGGCAAACAATTTGACATTGTGTAGTAAAGTTGAAGACAGACATACCCTAAGACCCAGACAATTCAGTTCCAAGGCATTATATCCTAGTAAGAAATTCTTGCACATGTGCATGGGAGATATACCTAGGAATGTTTGCAGAAGATAAACATCCCTGGTAGATACATCTTACATTGTTACATACTAGTGGTATGAATTATACTGTCTTATCTCCTTAAGTGTCCATTTCCTCACCTATACATTCAAGATAAGTCTACCTAACAGAGTTGTTATGAGATTAAATGAAAAAAAGAAAAAGAAAAAATGCACTAAGGACACGGCTTAGAACACAGTAGCCATCATTTTTATTCTCAAACTTGCTGTCCCTGTTTCAGAGGTTTCTGTTGTGAAGGCCCTACATTATATTGTCTATCAGACCCAGCCCTATGTGTATAAAAAACCCCTCAGGTTGCCTCCCTTTCAGATATGATTTCCTTCCTATGACTAGAGGATCATGCAGGAGGAACTGAGTTAATCCCTTATCTCTTATATGAAGCAACTTGTTTTTTCTCTCATTTTATAGATGTTAGCATGTAAACTTACATAATTTGCTGAAATGTTCTGAAAACTCACACTGAGATCATATAAAATAAAGCCACACAATTTGTGAAAATAGCATGGTGGGTTTGTGGGTTTGTTGTGGGAGTGAGGAATTGAGCAGAGGGTTATAGAACCCAGCTCGGAAGTCTATGGGGTAGGTAGCCTAGCCTCTGTTTTCTCTCCATGGCAGAGATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGT
|
CTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTGTACTAAAAATACAAAAACTAGCCGGGCGTGGTTGCGGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGACATGATCACAGCTCACAGCAGCCTTGAACTCCCAGGCTCAAGTTGTCCTCCCAACCAGCCTCCTGAGTAGCTAGAACTATGCACGCCATCATACCTGGCTACTTTTAAAAATTTTTTCTGTAGAGATGAGGTCTTGCTATGTTGTACCAGGCTGATCTGGAACTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTAGCCTCTACAAAAAAAAATTTCAAAGGTTTTTTGAAATTGGTGGGCATGATGGCATGCACCTATATCCTAGCTATTTGGGAGGCTGAGGCGAGAGGATTGCTTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCTATGACTATATCACCACACTCCAGCCTGGGCAACAGAGTAAGACCCTATTTCAAAAAAATAAAAAGAAAAACAAATGAGCAAGAGATAAAAACAGTTAATTCACTGAAGAAGAAATGCAAATGGCCAGATAAACATACTGATAAAAAGGTGATTGAAGGGGATTTCTTACACATTGCAGGTATAAATTTTTCCAAATATTTTGGCAAACAATTTGACATTGTGTAGTAAAGTTGAAGACAGACATACCCTAAGACCCAGACAATTCAGTTCCAAGGCATTATATCCTAGTAAGAAATTCTTGCACATGTGCATGGGAGATATACCTAGGAATGTTTGCAGAAGATAAACATCCCTGGTAGATACATCTTACATTGTTACATACTAGTGGTATGAATTATACTGTCTTATCTCCTTAAGTGTCCATTTCCTCACCTATACATTCAAGATAAGTCTACCTAACAGAGTTGTTATGAGATTAAATGAAAAAAAGAAAAAGAAAAAATGCACTAAGGACACGGCTTAGAACACAGTAGCCATCATTTTTATTCTCAAACTTGCTGTCCCTGTTTCAGAGGTTTCTGTTGTGAAGGCCCTACATTATATTGTCTATCAGACCCAGCCCTATGTGTATAAAAAACCCCTCAGGTTGCCTCCCTTTCAGATATGATTTCCTTCCTATGACTAGAGGATCATGCAGGAGGAACTGAGTTAATCCCTTATCTCTTATATGAAGCAACTTGTTTTTTCTCTCATTTTATAGATGTTAGCATGTAAACTTACATAATTTGCTGAAATGTTCTGAAAACTCACACTGAGATCATATAAAATAAAGCCACACAATTTGTGAAAATAGCATGGTGGGTTTGTGGGTTTGTTGTGGGAGTGAGGAATTGAGCAGAGGGTTATAGAACCCAGCTCGGAAGTCTATGGGGTAGGTAGCCTAGCCTCTGTTTTCTCTCCATGGCAGAGATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACTCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGT
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Task1_train_1540
|
This sequence change occurs on Chromosome 1, altering CTSK (cathepsin K). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Pyknodysostosis
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ATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGACATGATCACAGCTCACAGCAGCCTTGAACTCCCAGGCTCAAGTTGTCCTCCCAACCAGCCTCCTGAGTAGCTAGAACTATGCACGCCATCATACCTGGCTACTTTTAAAAATTTTTTCTGTAGAGATGAGGTCTTGCTATGTTGTACCAGGCTGATCTGGAACTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTAGCCTCTACAAAAAAAAATTTCAAAGGTTTTTTGAAATTGGTGGGCATGATGGCATGCACCTATATCCTAGCTATTTGGGAGGCTGAGGCGAGAGGATTGCTTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCTATGACTATATCACCACACTCCAGCCTGGGCAACAGAGTAAGACCCTATTTCAAAAAAATAAAAAGAAAAACAAATGAGCAAGAGATAAAAACAGTTAATTCACTGAAGAAGAAATGCAAATGGCCAGATAAACATACTGATAAAAAGGTGATTGAAGGGGATTTCTTACACATTGCAGGTATAAATTTTTCCAAATATTTTGGCAAACAATTTGACATTGTGTAGTAAAGTTGAAGACAGACATACCCTAAGACCCAGACAATTCAGTTCCAAGGCATTATATCCTAGTAAGAAATTCTTGCACATGTGCATGGGAGATATACCTAGGAATGTTTGCAGAAGATAAACATCCCTGGTAGATACATCTTACATTGTTACATACTAGTGGTATGAATTATACTGTCTTATCTCCTTAAGTGTCCATTTCCTCACCTATACATTCAAGATAAGTCTACCTAACAGAGTTGTTATGAGATTAAATGAAAAAAAGAAAAAGAAAAAATGCACTAAGGACACGGCTTAGAACACAGTAGCCATCATTTTTATTCTCAAACTTGCTGTCCCTGTTTCAGAGGTTTCTGTTGTGAAGGCCCTACATTATATTGTCTATCAGACCCAGCCCTATGTGTATAAAAAACCCCTCAGGTTGCCTCCCTTTCAGATATGATTTCCTTCCTATGACTAGAGGATCATGCAGGAGGAACTGAGTTAATCCCTTATCTCTTATATGAAGCAACTTGTTTTTTCTCTCATTTTATAGATGTTAGCATGTAAACTTACATAATTTGCTGAAATGTTCTGAAAACTCACACTGAGATCATATAAAATAAAGCCACACAATTTGTGAAAATAGCATGGTGGGTTTGTGGGTTTGTTGTGGGAGTGAGGAATTGAGCAGAGGGTTATAGAACCCAGCTCGGAAGTCTATGGGGTAGGTAGCCTAGCCTCTGTTTTCTCTCCATGGCAGAGATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGT
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ATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGACATGATCACAGCTCACAGCAGCCTTGAACTCCCAGGCTCAAGTTGTCCTCCCAACCAGCCTCCTGAGTAGCTAGAACTATGCACGCCATCATACCTGGCTACTTTTAAAAATTTTTTCTGTAGAGATGAGGTCTTGCTATGTTGTACCAGGCTGATCTGGAACTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTAGCCTCTACAAAAAAAAATTTCAAAGGTTTTTTGAAATTGGTGGGCATGATGGCATGCACCTATATCCTAGCTATTTGGGAGGCTGAGGCGAGAGGATTGCTTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCTATGACTATATCACCACACTCCAGCCTGGGCAACAGAGTAAGACCCTATTTCAAAAAAATAAAAAGAAAAACAAATGAGCAAGAGATAAAAACAGTTAATTCACTGAAGAAGAAATGCAAATGGCCAGATAAACATACTGATAAAAAGGTGATTGAAGGGGATTTCTTACACATTGCAGGTATAAATTTTTCCAAATATTTTGGCAAACAATTTGACATTGTGTAGTAAAGTTGAAGACAGACATACCCTAAGACCCAGACAATTCAGTTCCAAGGCATTATATCCTAGTAAGAAATTCTTGCACATGTGCATGGGAGATATACCTAGGAATGTTTGCAGAAGATAAACATCCCTGGTAGATACATCTTACATTGTTACATACTAGTGGTATGAATTATACTGTCTTATCTCCTTAAGTGTCCATTTCCTCACCTATACATTCAAGATAAGTCTACCTAACAGAGTTGTTATGAGATTAAATGAAAAAAAGAAAAAGAAAAAATGCACTAAGGACACGGCTTAGAACACAGTAGCCATCATTTTTATTCTCAAACTTGCTGTCCCTGTTTCAGAGGTTTCTGTTGTGAAGGCCCTACATTATATTGTCTATCAGACCCAGCCCTATGTGTATAAAAAACCCCTCAGGTTGCCTCCCTTTCAGATATGATTTCCTTCCTATGACTAGAGGATCATGCAGGAGGAACTGAGTTAATCCCTTATCTCTTATATGAAGCAACTTGTTTTTTCTCTCATTTTATAGATGTTAGCATGTAAACTTACATAATTTGCTGAAATGTTCTGAAAACTCACACTGAGATCATATAAAATAAAGCCACACAATTTGTGAAAATAGCATGGTGGGTTTGTGGGTTTGTTGTGGGAGTGAGGAATTGAGCAGAGGGTTATAGAACCCAGCTCGGAAGTCTATGGGGTAGGTAGCCTAGCCTCTGTTTTCTCTCCATGGCAGAGATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACGCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGT
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Task1_train_1541
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Here’s a variant in CTSK (cathepsin K) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Inborn genetic diseases
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ATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGACATGATCACAGCTCACAGCAGCCTTGAACTCCCAGGCTCAAGTTGTCCTCCCAACCAGCCTCCTGAGTAGCTAGAACTATGCACGCCATCATACCTGGCTACTTTTAAAAATTTTTTCTGTAGAGATGAGGTCTTGCTATGTTGTACCAGGCTGATCTGGAACTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTAGCCTCTACAAAAAAAAATTTCAAAGGTTTTTTGAAATTGGTGGGCATGATGGCATGCACCTATATCCTAGCTATTTGGGAGGCTGAGGCGAGAGGATTGCTTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCTATGACTATATCACCACACTCCAGCCTGGGCAACAGAGTAAGACCCTATTTCAAAAAAATAAAAAGAAAAACAAATGAGCAAGAGATAAAAACAGTTAATTCACTGAAGAAGAAATGCAAATGGCCAGATAAACATACTGATAAAAAGGTGATTGAAGGGGATTTCTTACACATTGCAGGTATAAATTTTTCCAAATATTTTGGCAAACAATTTGACATTGTGTAGTAAAGTTGAAGACAGACATACCCTAAGACCCAGACAATTCAGTTCCAAGGCATTATATCCTAGTAAGAAATTCTTGCACATGTGCATGGGAGATATACCTAGGAATGTTTGCAGAAGATAAACATCCCTGGTAGATACATCTTACATTGTTACATACTAGTGGTATGAATTATACTGTCTTATCTCCTTAAGTGTCCATTTCCTCACCTATACATTCAAGATAAGTCTACCTAACAGAGTTGTTATGAGATTAAATGAAAAAAAGAAAAAGAAAAAATGCACTAAGGACACGGCTTAGAACACAGTAGCCATCATTTTTATTCTCAAACTTGCTGTCCCTGTTTCAGAGGTTTCTGTTGTGAAGGCCCTACATTATATTGTCTATCAGACCCAGCCCTATGTGTATAAAAAACCCCTCAGGTTGCCTCCCTTTCAGATATGATTTCCTTCCTATGACTAGAGGATCATGCAGGAGGAACTGAGTTAATCCCTTATCTCTTATATGAAGCAACTTGTTTTTTCTCTCATTTTATAGATGTTAGCATGTAAACTTACATAATTTGCTGAAATGTTCTGAAAACTCACACTGAGATCATATAAAATAAAGCCACACAATTTGTGAAAATAGCATGGTGGGTTTGTGGGTTTGTTGTGGGAGTGAGGAATTGAGCAGAGGGTTATAGAACCCAGCTCGGAAGTCTATGGGGTAGGTAGCCTAGCCTCTGTTTTCTCTCCATGGCAGAGATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGT
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ATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCAAGCCTAGGTGACAAAAGCAAAACTCCATTTCAAAAAAAAAAAAAAAAGGGTAGGCCAGGCATGGTGGCTTACATCTATAATCCCAGCACTTTGGGAGGTGGGAGGATTGCTTGAGCCTAGGAGTTTGAGACTAGCCTTGGCAACATAGCGAGACAATGTCTCTACCAAAAAAAACGGTTGTTGTTTTTGGGGACAGGGTCTCACTCTGTCACCCAGGCTAGAGAGCAGTGACATGATCACAGCTCACAGCAGCCTTGAACTCCCAGGCTCAAGTTGTCCTCCCAACCAGCCTCCTGAGTAGCTAGAACTATGCACGCCATCATACCTGGCTACTTTTAAAAATTTTTTCTGTAGAGATGAGGTCTTGCTATGTTGTACCAGGCTGATCTGGAACTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTAGCCTCTACAAAAAAAAATTTCAAAGGTTTTTTGAAATTGGTGGGCATGATGGCATGCACCTATATCCTAGCTATTTGGGAGGCTGAGGCGAGAGGATTGCTTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCTATGACTATATCACCACACTCCAGCCTGGGCAACAGAGTAAGACCCTATTTCAAAAAAATAAAAAGAAAAACAAATGAGCAAGAGATAAAAACAGTTAATTCACTGAAGAAGAAATGCAAATGGCCAGATAAACATACTGATAAAAAGGTGATTGAAGGGGATTTCTTACACATTGCAGGTATAAATTTTTCCAAATATTTTGGCAAACAATTTGACATTGTGTAGTAAAGTTGAAGACAGACATACCCTAAGACCCAGACAATTCAGTTCCAAGGCATTATATCCTAGTAAGAAATTCTTGCACATGTGCATGGGAGATATACCTAGGAATGTTTGCAGAAGATAAACATCCCTGGTAGATACATCTTACATTGTTACATACTAGTGGTATGAATTATACTGTCTTATCTCCTTAAGTGTCCATTTCCTCACCTATACATTCAAGATAAGTCTACCTAACAGAGTTGTTATGAGATTAAATGAAAAAAAGAAAAAGAAAAAATGCACTAAGGACACGGCTTAGAACACAGTAGCCATCATTTTTATTCTCAAACTTGCTGTCCCTGTTTCAGAGGTTTCTGTTGTGAAGGCCCTACATTATATTGTCTATCAGACCCAGCCCTATGTGTATAAAAAACCCCTCAGGTTGCCTCCCTTTCAGATATGATTTCCTTCCTATGACTAGAGGATCATGCAGGAGGAACTGAGTTAATCCCTTATCTCTTATATGAAGCAACTTGTTTTTTCTCTCATTTTATAGATGTTAGCATGTAAACTTACATAATTTGCTGAAATGTTCTGAAAACTCACACTGAGATCATATAAAATAAAGCCACACAATTTGTGAAAATAGCATGGTGGGTTTGTGGGTTTGTTGTGGGAGTGAGGAATTGAGCAGAGGGTTATAGAACCCAGCTCGGAAGTCTATGGGGTAGGTAGCCTAGCCTCTGTTTTCTCTCCATGGCAGAGATGCAAATAGGAGCTATAGTAGCTTAAGCTCCCTAAATTCCCCCAGATTGTGGAAATCTTCTTGGCCTTCTGTGGGAAATTATTCCATCAAGAAAGCAGGATAGGATAACAGAAAACAGTATTTCTGGAATTGTTTCCAGTACAAAACATCATGCTGGGGAAGGAGGAGCCAACAGAGCTGTATAATTGTGTGGAGCAATCTCACCTGTCCCACATATGGGTAGGCATCTTCAGAGTCAATACCCCGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACGCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGT
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Task1_train_1542
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The gene CTSK (cathepsin K) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Pyknodysostosis
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CGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAAT
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CGGTTCTTCTGCACATATTGGAAGGCATTGGTCATGTAGCCCCCTCCACAGCCATCATTCTCAGACACACAATCCACTAGGTTCTGGGGACTCAGATTTAAGAGTTTGCCAGTTTTCTTCTTGAGTTGGCCCTCCAGGGCACCCACAGAGCTAAAAGCCCAACAGGAACCACACTGACCCTGAAAGGCATACAGAGAAACTATCAATCTTTGCTGTTTACATTTTCTATATCTTCTCTCTACCTGCCTGAAGAAATTCCATGTGTTCTAAAAATTTCAGCACAAATGTTGTCATTGTTGTGAGTCTTCCTCTTCCGCTTAATATCTGTTGCACTGTTCTACTGCTATTGATTTTTGCTACCATTTTTACTATTAGCTACAGTAAAGCAGAGCACAGTACCAGCTGTGGAGGCATTTGTCCTGGGTGCTAACCCTGACTTTGCCACCCAGTAGCTATGTGACCCCGGGTAAGTTACTAAATTTGCCTGTGTCTCAGTTTCTCTATGCATAAAATATTGTTATAAGGATTAAATATTTAACTCATGTAAAGAGTTAAGAAGTTCCTGACAAACAATAAAATCTCAAAAAGTATTAGCTATTATTGTTTGTGCAGCTAGATTGTAGATTTTTCTTTCTTTCCTGTTCTATTTTTTTAGATTGAGATTTCCTGAGGACACAGGTTGTGTCTTAGTCATCTTGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCTCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAAT
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Task1_train_1543
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This sequence variant lies in CTSK (cathepsin K) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; not provided
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TGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACATCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGATCTAGGAAGTTGCAAACGTTACCTGCTGATGGAAATCTGTTGTCTGGCTTCGTTTCGGCAGCAAAGTGTGGGCACACCATCAGGGGTGCTAGATTTATTCCATCGGGATTGCGGAAGTCAGCTCCAGTGATCGGCTGGAAAATTTGGGTAAGAGGAGGAGGCGGGGATAGAAATGCTGAGAGAAGGAAGGGTAGGGAGGAGGGAAGGAGGCAGTGGATTTGCAGTGTTTCTGTGTGTATGCAGCATGTGTGCCAGGGTAGGGAATTACTAGCTATTTAGTCTCACAAGACTGTCTTTGGTGGCAAATAACAAGACCTCAATATCTATTGACTCAAATAGGAGCTTACTTTCTCTTTTGGTGAGTAAAAGGAAGGACACAGCCCTAGTCTCTCCCATCCTTCTTCTTCAATATCTTTATTTTAATATTGGGGGATTATATCTTTTCCTACCCCTTTCCTGTTAGGATTTACCTCTCCAACATTGAAACCTATTTTCATATTTGTGTCTGACTCTCACCTCTGGGATGCGGTAATGAACATAAAAGGCTATAAAAGAATAATGTAATGGAAGCCATAGGCTCCAGAATTCTTTGTATTTTTATAAGCTTGTTGGTTGCAAGTTGTCATTACTTCCAGGCAGAATAGTTTTCCCAGCCTAATGT
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TGAGTCTCTGCTGCCTAACACTGCATCTGGTAGGTTCTGGGGGTCAAAAAGTGTTTGTTAAATGAACGTTAAATCAATTGTTTATCTTGCTGATACAATCCTGTGTTGTTTGGGTTGTGAAAAAACTGACATTCTCATGCTAGTAAGAATGTAAGATTGCAAAAACTTTTTTGGGCTGGGCATGGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGGCCGAAGCGGGCAGATTGCTTGAGCCCAGGAATTTGAGACCAGCCTGGGTAGCATGGCAAAACTCTGTCTCTACAAAAAATTTTTTAAAATTAGCTGGGTGTGGTGGCATGTGCTTCTAATCCCAGCTACTAGGGAGGCTGAGGTTGGAGAATCACTTGAGCCTGAGACGTTGAGGCTGCAGTGAGCCATGATTGCGCCACTGGACTCCAGCCTGGGTGACAGAGACGCTGTCTCAAAAAAAAAAAAAAAATTTGGGGGGGGGGAAAGGATTATTTGTGACCTAACAATTCCAATTTTAGGACTTATTTTGCATAAATATTTGTACATGTGCACAAAAACATATGCACAAGGGTGCTTATTGCAACACTATTTGTAATAAAGAAAAACCAGGCCGCGATGGCTCATGACTCTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACGCATCTCTATAAAAATAGAAAAATTAGCCAGGCGTAGTGGCGCGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGTAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCATCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAGAAAAACCAGAAACAACCCAAATGTACAGAAACAAATGAGGTTAAATAACAGAATGGGAATGGGGAGATGTACCTTAATTCCTTGCCCTCTTTTCCTGGTGCCCTTTCACCTCAAGAACAAAGCAGCAGAAAAAGGAAAAGGTCATGCCAGATTACATATGCACACCCAGAAGAAAGGAGAGTACCTGATTTTTGACAGGAGTAACATATCCTTTCTTTCGATAGTCGACAGAGTCTGGGGCTCTACCTTCCCATTCTGGGATATAAAGGGTGTCATTACTGCGGGAATGAGACAGGGGTACTTTGAGTCCAGTCATCTTCTGAACCACCTCTTCACTGGTCTAAGACAAAGAAGAAAGAGGCCAGGCATCAGCAGGGAACTAAAGCAAATGGTGCAGGTGGGACAGGAGCTGAAGCTATACTTGCCATGTCCCCCAGGTGGTTCATAGCCAGTTCATATGTATGGACACCAAGAGAAGCCTCAAGGTTATGGATGGAAATATACTTCAGGTTTTTTTCCCAAATTAAACGCCGAGAGATTTCATCCACCTAAACAAAGCATAGTCAGTACTTGTATAGACTGTCTACAGTTACATATGTAATATTGTGAAGGGTTTTAGGAGAATAAAGGAAACTCACAATCATAAAAGTTTACAGTTTAGTTGGGGAACTAACCATGGAATTAAGAGCCTGCAAGAAGAGATAATATGTAAACAAATACAACACAAAGCTCTGGAGAGACAGAAAAATTGCTTATAGATTAACAGCATTAATCTTAGAACTCTTCCCAAAAGAGAAATGTAACACACTTATAAAGCAAAGGAAGGATACAGTTTGACAGAGGATGATTTGAAGCATAGGAATGAAAACCGTATGTTAACATGAGTTAGGGAAGAGGGACTGATTTGCTTGGAATAAAGCATTTGGATTGAAGAAGGGAGTCTGGAAGCTAAGATGAGAGAGCTCAGGTCTCAGCCTTCCTGCCATGCCCCCTCCAGGACCCCAGGCACCTTGTTGTTATATTGCTTCCTGTGGGTCTTCTTCCATAGCTCCCAGTGGGTGTCCAGTATCTCCTCAGGGTACAGAGCAAAGCTCACCACAGGTAGCAGCAGAACCTTGAGCCCCCACACCCTGCAGAAGAATGTAGTTAGGGAAAACTCTTCCATTTGGCAGGGAAACAGAGGAAAACTAGGCTTTATGAGGAAGAGAAAGGTAGACGGAAAAAGGGTGATAAAACAATGATAGTCAGGAGGGGCCTGTGTTTAGATAGGATGCTGGTACATCTGGTTCCAAGGACTTTGATCTAGGGGGATTTAGCCATTTCTCTCTTTCTCTCTCTCTCTCTCTCTCGGGAGATTTAGGCAACACACACTCTCTCTGTTTCTCTCTCTGTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGTACACAACCAGAAATGGGGGATAGAAACTGGACAATCAGAATGGGCTCAGTGCGTTTCCTCCAGGGTCCCTAGCAGGCTTGGAGACAGACAAATAGCAAGGTGGTAGTGGGGTTCAGAATACACAAAGGAGAGATTTCCGTCTAAGTTTTGCCTCCTGATCATTTCTTCGAGGCGTTCTTCTCTTTCGTGCCTAAATTCTGGTACTTTCCCAGATCTTGTCAGAAGAGGACAAGGGAAAATAGGACAATGTTTCCTGTTTTCTGAGACATTGTATATCTCCTCATTCTCCTTATGCATTTCTTCTTCCTTTTTCTCTCCCTTCCCTCCTTAGGCAGGAAACTGCCCTAATCTTAACCAGATGCTGCGGGCAAGGTTTTTTATTTTTCCCCTAACAACAAAAACCCACTGTGGCTGCCGCAAAGGACAAGAAGCCTCAGATCCAAGGTTTGTTAGAAGAATGTTCAGACTGAAAAGCAATGTTCTATGATGATGAAATTCACAGCTTTTCATAAGTTTACTCTAGTTAGCTTCACTCATTTCTTGCATTGGCTTTCTTAATTACAAATCCTCCATTTTAAGAACAATTTGCAGCCTGCAGCATGACATATGGCTTACACAATTGCTTATAGTCCATTTACATGTAATTTTGCAAACTGGCAAAATGTCCAGTAGGACATTTAAAAACTAGAGTGTTAAGGGCTTTGAGATGTCTCAGTGAACAGGAAGCACTGAGCTACTACCTCCCCATACCACTCTCCTCCTCCTCACTAAGGAGTTAACCGTTTTGATCCTTGTTGGCCAAAGTAGAAAACACTGCAGAAAGGCCACTCTTGAAGGATGGGGAAATGATTCCCTATATACTTTGCTTTTACTAACAATCATGTATGTATATATATAAATCATACAAGGAATTCTACAGATTTCCAGGCAGATTTTATTTAGCCAGGGAATGACCTAAGAAGTGCATCTCTGTTTTCATCTGCAGAGGCTAAAAGTTTATTGTGATCCTCAAGTCACTACATCCCTAATACTCAGAGAATTGACAGGAATGAAAAGCTAAAAGATCTAGGAAGTTGCAAACGTTACCTGCTGATGGAAATCTGTTGTCTGGCTTCGTTTCGGCAGCAAAGTGTGGGCACACCATCAGGGGTGCTAGATTTATTCCATCGGGATTGCGGAAGTCAGCTCCAGTGATCGGCTGGAAAATTTGGGTAAGAGGAGGAGGCGGGGATAGAAATGCTGAGAGAAGGAAGGGTAGGGAGGAGGGAAGGAGGCAGTGGATTTGCAGTGTTTCTGTGTGTATGCAGCATGTGTGCCAGGGTAGGGAATTACTAGCTATTTAGTCTCACAAGACTGTCTTTGGTGGCAAATAACAAGACCTCAATATCTATTGACTCAAATAGGAGCTTACTTTCTCTTTTGGTGAGTAAAAGGAAGGACACAGCCCTAGTCTCTCCCATCCTTCTTCTTCAATATCTTTATTTTAATATTGGGGGATTATATCTTTTCCTACCCCTTTCCTGTTAGGATTTACCTCTCCAACATTGAAACCTATTTTCATATTTGTGTCTGACTCTCACCTCTGGGATGCGGTAATGAACATAAAAGGCTATAAAAGAATAATGTAATGGAAGCCATAGGCTCCAGAATTCTTTGTATTTTTATAAGCTTGTTGGTTGCAAGTTGTCATTACTTCCAGGCAGAATAGTTTTCCCAGCCTAATGT
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Task1_train_1544
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An alteration has been detected in PRUNE1 (prune exopolyphosphatase 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
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ACAAAACCCAAGACCCTGTCACCCCGATTTTGGGCACTCCAGTTTTAGTATATTTTATTTTATTTATTTATTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAAAGGCGCAATCTCGGCTCACTGCAACCTCCGTCTGCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCATACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGTTAGGTTGGTCTCAAACTCCTAACCTTAGGTGATCCGCCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGCGCCAGCCACCACGCCCAGCCCTGGACTAGATCTTACTTTTAACCTTTATTCTCAAAGCCTCTTCACCTGCAATCATGATTTAGAAGTGTAAGCATTCGGCCGAGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTAGGTGTGGTGGCGCATTCCTGTAATCCCAGCTACTTGTGAGGCTGAGGCATGAGAATCTGGTCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAGTATAAGCATTCTTTTACCTATTATGAAAATGGGAAGAAAATAATCAACCAGGGTTGATATGCCCAAGAGCATGCCTTGAATGTATCAGCTACCCCAAATTCCCTTTTTTGACTGTTTGAGTGCCCAAAGAAGATAAGAAATCCGAAGTTTATTTACTGCTCTATAAGTTAACATTGAAGGAGATAGGAGGAAAGAACACTTTTCTACAAACTGGATATAGGTAGAATGCTATAAGCTTAGCTGAAACACTTATGCCATCTATGGAATGAGGACCCATTAGATTATTTGACCTACCTCCTCTGTGAAGATCAATGAGAGGAAGTGTGTGAAGCCCTACATGAGTATAAGGTAGATGGAGAGGCCAGGCACAGTGGCTCATACCTGTTATCCCAGCACTTTGGATCTCGAGCCCAGGAGTTTGAGACCAGCCTGTGCAACATGGCAAAATCCCGTCTCTACAAAAAAATACAAAAAATTAGCTGGGCATGGTGGCGCTTTCCTGTAGTTCCAGCTACTCAGGAGGATCGACTGAACCTAGTAGGAGGTTGAGGCTGCAGGGAGTTGTGATCACGCTACTGCATTCCAGCCTGGGCGACAGAGTGAGACCTGTCTCAAAAATATATATATTATTTAAAAAAAAAAGATAAGTGGAAATGAATAGAGATACTTTTGTTAGTTTCCCATTTTCCTTTCTCTCCAGGAGTCCCGACCTCTACATGTTGTGCTGGGAAATGAAGCCTGTGATTTGGACTCCACAGTGTCTGCTCTTGCCCTGGCTTTTTACCTAGCAAAGGTGGGTAAAAAAACGTAGTACCTAGGATCTGAGTCCCTCAGAACGAAAAGATCTGGATTCAAGACCCAGCTCTACCACTTACCAGCATTTAGCATTGGGTAAATTAAATCCCTTAACTTTGCTGAGTCTCATGCCACCATCCATAAAAACTAAAATGATATTTTGCAGTGTTGCTGTGAGGAAAAAAGTGAGCAAATATATTTCGAGGGATATGTAAACCATAAAGCAATATTCAAACAGTTTATTACTGAGTTCCGTATAGGTATCAGTGATCTAGTGTGTATTCCTCTGCCCAGGTTAGTTCTTGAGGACTAAAAATTCCTTCTCTGCAGCATTGCATCTAGAAATAGGTATTTACCATGAGTTACCTTGTTGACTTTCATGTTATTACTAAGAAGGAGGGAGGGCAAAAGTCATCCTTTCATTTTTATAGACTGGGTACTTATGGCTTTGAGAAAGGTGGTAACTTACCTAAGTATGTCTCCTTTGGTCCCAGTAGTCTTGTTACTTTTTCCTGTCATTATAAAACCTTGTGATACCTTCTTTTCACTTTCCTATCTAGACAACTGAGGCTGAGGAAGTCTTTGTGCCAGTTTTAAATATAAAACGTTCTGAACTACCTCTGCGAGGTGACATTGTCTTCTTTCTTCAGAAGGTTCATATTCCAGAGAGTATCTTGATTTTTCGGGATGAGATTGACCTCCATGCATTATACCAGGCTGGCCAACTCACCCTCATCCTTGTCGACCATCATATCTTATCCAAGTAAGCACAAGGAAATTAAATTGCTACCTATCATGTACCATGCTGGGCTCTGATGAGTGAGATATAAAGAGAGGAAGAAAGAGTTTTTGCTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGATCAGGATTTTGAGACCAGCCTGGACAACATGGCAAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCGTGGTGGCAAGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGAAGGTGGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGAGCGACAGAGCCAGACTCCGTCTCAAAAAAGAAAGAGTTTTTGCTTTCAGGGATCTCATAGGCTAATCATAATTGATAGGTCATATTAGATATAGAAAAACAACACAAAATATTGTCAGTTCTGCAGTTATATGTATGTCTGTGGCATATAGACATACCCTATAATAAAAAGAAATAGAACGTGTTGAGTTCAAACTAAAGGGTAACTCAAAAATCATTTAAATCTGCCTTTGGTATCATTATTTAAGATTTTGTGTGCCGGGTGTGATGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGCCAGATCCATTAAGCTCCAGGAGTTCAAGACCCGCCTGAGCAACATGGCAAAACCATGTCTTTACAAAAAATTTTTAAAAATTAGGCACGGTGGTGCATGCCTATGGTCCCAGCTACTCGGGAGGTTGAGGTGGGAGGATCACTTGAGCCCAGGAGGTCGAATCTGCAGTGAGCCAAGATCACACCACTCCACTCCAAGCCTGGGAGACAGAGGGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAGATTCTGAGACAGATTTATTGTAATAGAAACCTTTGAAAAATGTTTGCAATTCTCTTTTTATTTTTTTACTTATTATTTATTTTTGTACTTACTTATTAAATTTTTTTTAGAGAAGAGGGTCTTGCTATATTGCCCAGGCGGATCTCAAATTCCTAGGCTCATGCTATCTTCCTGCCTCTGCCTCCCTAAGTGCTGGTTTATAGGTGTGAGCCACCACACCTGGCCTGCAACTCTATTTTTAATTTTAATTTTAATTAATTATTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTTCAGTGCAGTGGTGTGATCTCGGCTCACTGCAACAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGTGCGCGCCACCATGCCCAGCTAATTTTTATATTTTTTACTGGAGACAGGGTTTTGCGCTGTTGGCCAGGCTGGCCTGGAACTCCTGACCTCAGATGATCTGCCCACTTTGGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACCACACCTGGCCTATTTTTAATTTTTAAAAAGTGGCCTGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGAGACCTGTCTGACCACTATAGCGAGACCCTGTTCTCTAAAAAAAAATAATAAATACAAAAATCTATAAACATAGTGTGACCTTGTCTCTACTAAAAATAAAAAAATTTGCCAGGTGTGGTAGTGCATGCCTGTAGTCCCAGCTACTTAGGAGGCTGCTGAGGTGGTAGGATCACTTGAGCCTAGGAATTGAGGCTTCAGTAAGCCATGATCACATCACTGTACTCCAGCCTGAGTGACAGGGCAAGAACTTGTCTCCAAAAAAATTTTTTTAAGTTATCAAAAGGGCCAGGTGTGGTGGCTCACACCTGTAAACCCAGCACTTTGGGAGGGTGAAACAGGAGGGT
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ACAAAACCCAAGACCCTGTCACCCCGATTTTGGGCACTCCAGTTTTAGTATATTTTATTTTATTTATTTATTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAAAGGCGCAATCTCGGCTCACTGCAACCTCCGTCTGCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCATACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGTTAGGTTGGTCTCAAACTCCTAACCTTAGGTGATCCGCCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGCGCCAGCCACCACGCCCAGCCCTGGACTAGATCTTACTTTTAACCTTTATTCTCAAAGCCTCTTCACCTGCAATCATGATTTAGAAGTGTAAGCATTCGGCCGAGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTAGGTGTGGTGGCGCATTCCTGTAATCCCAGCTACTTGTGAGGCTGAGGCATGAGAATCTGGTCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAGTATAAGCATTCTTTTACCTATTATGAAAATGGGAAGAAAATAATCAACCAGGGTTGATATGCCCAAGAGCATGCCTTGAATGTATCAGCTACCCCAAATTCCCTTTTTTGACTGTTTGAGTGCCCAAAGAAGATAAGAAATCCGAAGTTTATTTACTGCTCTATAAGTTAACATTGAAGGAGATAGGAGGAAAGAACACTTTTCTACAAACTGGATATAGGTAGAATGCTATAAGCTTAGCTGAAACACTTATGCCATCTATGGAATGAGGACCCATTAGATTATTTGACCTACCTCCTCTGTGAAGATCAATGAGAGGAAGTGTGTGAAGCCCTACATGAGTATAAGGTAGATGGAGAGGCCAGGCACAGTGGCTCATACCTGTTATCCCAGCACTTTGGATCTCGAGCCCAGGAGTTTGAGACCAGCCTGTGCAACATGGCAAAATCCCGTCTCTACAAAAAAATACAAAAAATTAGCTGGGCATGGTGGCGCTTTCCTGTAGTTCCAGCTACTCAGGAGGATCGACTGAACCTAGTAGGAGGTTGAGGCTGCAGGGAGTTGTGATCACGCTACTGCATTCCAGCCTGGGCGACAGAGTGAGACCTGTCTCAAAAATATATATATTATTTAAAAAAAAAAGATAAGTGGAAATGAATAGAGATACTTTTGTTAGTTTCCCATTTTCCTTTCTCTCCAGGAGTCCCGACCTCTACATGTTGTGCTGGGAAATGAAGCCTGTGATTTGGACTCCACAGTGTCTGCTCTTGCCCTGGCTTTTTACCTAGCAAAGGTGGGTAAAAAAACGTAGTACCTAGGATCTGAGTCCCTCAGAACGAAAAGATCTGGATTCAAGACCCAGCTCTACCACTTACCAGCATTTAGCATTGGGTAAATTAAATCCCTTAACTTTGCTGAGTCTCATGCCACCATCCATAAAAACTAAAATGATATTTTGCAGTGTTGCTGTGAGGAAAAAAGTGAGCAAATATATTTCGAGGGATATGTAAACCATAAAGCAATATTCAAACAGTTTATTACTGAGTTCCGTATAGGTATCAGTGATCTAGTGTGTATTCCTCTGCCCAGGTTAGTTCTTGAGGACTAAAAATTCCTTCTCTGCAGCATTGCATCTAGAAATAGGTATTTACCATGAGTTACCTTGTTGACTTTCATGTTATTACTAAGAAGGAGGGAGGGCAAAAGTCATCCTTTCATTTTTATAGACTGGGTACTTATGGCTTTGAGAAAGGTGGTAACTTACCTAAGTATGTCTCCTTTGGTCCCAGTAGTCTTGTTACTTTTTCCTGTCATTATAAAACCTTGTGATACCTTCTTTTCACTTTCCTATCTAGACAACTGAGGCTGAGGAAGTCTTTGTGACAGTTTTAAATATAAAACGTTCTGAACTACCTCTGCGAGGTGACATTGTCTTCTTTCTTCAGAAGGTTCATATTCCAGAGAGTATCTTGATTTTTCGGGATGAGATTGACCTCCATGCATTATACCAGGCTGGCCAACTCACCCTCATCCTTGTCGACCATCATATCTTATCCAAGTAAGCACAAGGAAATTAAATTGCTACCTATCATGTACCATGCTGGGCTCTGATGAGTGAGATATAAAGAGAGGAAGAAAGAGTTTTTGCTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGATCAGGATTTTGAGACCAGCCTGGACAACATGGCAAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCGTGGTGGCAAGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGAAGGTGGTGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGAGCGACAGAGCCAGACTCCGTCTCAAAAAAGAAAGAGTTTTTGCTTTCAGGGATCTCATAGGCTAATCATAATTGATAGGTCATATTAGATATAGAAAAACAACACAAAATATTGTCAGTTCTGCAGTTATATGTATGTCTGTGGCATATAGACATACCCTATAATAAAAAGAAATAGAACGTGTTGAGTTCAAACTAAAGGGTAACTCAAAAATCATTTAAATCTGCCTTTGGTATCATTATTTAAGATTTTGTGTGCCGGGTGTGATGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGCCAGATCCATTAAGCTCCAGGAGTTCAAGACCCGCCTGAGCAACATGGCAAAACCATGTCTTTACAAAAAATTTTTAAAAATTAGGCACGGTGGTGCATGCCTATGGTCCCAGCTACTCGGGAGGTTGAGGTGGGAGGATCACTTGAGCCCAGGAGGTCGAATCTGCAGTGAGCCAAGATCACACCACTCCACTCCAAGCCTGGGAGACAGAGGGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAGATTCTGAGACAGATTTATTGTAATAGAAACCTTTGAAAAATGTTTGCAATTCTCTTTTTATTTTTTTACTTATTATTTATTTTTGTACTTACTTATTAAATTTTTTTTAGAGAAGAGGGTCTTGCTATATTGCCCAGGCGGATCTCAAATTCCTAGGCTCATGCTATCTTCCTGCCTCTGCCTCCCTAAGTGCTGGTTTATAGGTGTGAGCCACCACACCTGGCCTGCAACTCTATTTTTAATTTTAATTTTAATTAATTATTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTTCAGTGCAGTGGTGTGATCTCGGCTCACTGCAACAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGTGCGCGCCACCATGCCCAGCTAATTTTTATATTTTTTACTGGAGACAGGGTTTTGCGCTGTTGGCCAGGCTGGCCTGGAACTCCTGACCTCAGATGATCTGCCCACTTTGGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCACCACACCTGGCCTATTTTTAATTTTTAAAAAGTGGCCTGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGAGACCTGTCTGACCACTATAGCGAGACCCTGTTCTCTAAAAAAAAATAATAAATACAAAAATCTATAAACATAGTGTGACCTTGTCTCTACTAAAAATAAAAAAATTTGCCAGGTGTGGTAGTGCATGCCTGTAGTCCCAGCTACTTAGGAGGCTGCTGAGGTGGTAGGATCACTTGAGCCTAGGAATTGAGGCTTCAGTAAGCCATGATCACATCACTGTACTCCAGCCTGAGTGACAGGGCAAGAACTTGTCTCCAAAAAAATTTTTTTAAGTTATCAAAAGGGCCAGGTGTGGTGGCTCACACCTGTAAACCCAGCACTTTGGGAGGGTGAAACAGGAGGGT
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Task1_train_1545
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The gene PRUNE1 (prune exopolyphosphatase 1) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
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TTTTTTTTTTATGGAACAGTTCACAAATGTGCATGTCATCCTTGCTCAGCGGCCATGCTAATCTTCTCTGTGTCATTCCAATTTTAGCGCATGTGCTGCTGAAGTGAGCACTGATCTCAGTCTTGAAAGAGGACTAGGTGTTTGCTTGGTGAATTGGGAGGGAGGAGGGAAGGTGGTTAGGAAAGGCATTCCAGGCAGAGGGAGTAATTAATAGAATCAAATGCAGGCAGGCGTGAAATAGCATGGTGAGCTAGGGGAAATGGAATTTGTTTTGCACAGCTGGAGCATAAAATTTGAGGGAGAAGTAGGACATGGAAAAAGATGAGACAGAGGGGGCAGGCAGGAGGCAGATTATGGAGGCCTCATAGGCCCTTCTAAGGTGATTGGATTTTATTTTAGGCCGTGGGGAACTATTTTAAATTATATTCTGGGTCCTAAAAGAATCAGATTTTCTTTTTTCAAATGATCATTCAGGCCACTTTGTGAAGGACAGCCCAGGAGGGCTCTTGGTTGGAAGCAGGTGATTGGTTAAGAGACTACTGGAATAGTCCAGACGAGAGATATTGAGGGCCTAGAGTGGGGCAGTAACAGAGAGTTAGAAACTAGGGCATGGATAGGAATTAAGATAGAATTCACAGGACCTGGTGACCCACATGGAATCTAAGTATTGAGTGGGTTATAAAAATAGGAGAGATTTGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCCTGGTGGTGGGCGCCTGTACTCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACACAGCGAGATTCCGTCTTAGAAAAAAAAAAAAAAAGGAGAAATTTAGATGTTGGGTATCAAGGGTGTCAAGGGTATAGGGTTGGAAAGGCAACGCTAAAGGACAGCAAATGTGGGGGTAAGATATTTGCAGCAGATGCTTCACAGAATTTGCTTATACACTATTTAAAGATGACTCCAATTATAACATTAAAGAAAAGAATTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCTCTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTTTACTAAAAATACAAAAAAAAAAATTAGCCGGGTTTGGTGGCACGTGCCTTGTAATCCTGGTTACCCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGGAGCCGAGATCGTGCCATTGCACTCCAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAATTGAGAGGAGTTAGGCAGAGGTAAAAGTAACCAAAGGTCAGTTTTAAATGCTTGCCTGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGACTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGTTGGCAGGCGCCTTTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGATGCAAAGGTTGCAGTGAGCCAAGAACGCACCATTGCACTCTAGCCTGGGCGACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAGACATCTGCATTTTCCTTGATGTGTGGGGTAGAGGTTGGCTAGAAGCAGCTGGAGTGTCCGTACCTATCTTTCTTCCTCTTTTCCCATACCCTCCCCTCCACAGAAGTGACACAGCCCTAGAGGAGGCAGTAGCAGAGGTGCTAGACCATCGACCCATCGAGCCGAAACACTGCCCTCCCTGCCATGTTTCAGTTGAGCTGGTGGGGTCCTGTGCTACCCTGGTGACCGAGAGAATCCTGCAGGGGGCACCAGAGATCTTGGACAGGCAAACTGCAGCCCTTCTGCATGGTAAGGGTGGCTTTTGGATTGGGACCTCAGTAGTTCTATTCCTGTCCCTGAGAAGGGAGGGTGGAAAAGTCTAGACGCTTCCAGCCTAACCATATGCTCTCAGAGCCATTCAGCTCATACCAAAAGATAGGATTCTTTCAGGGGACAATTGAGCATGTGTTTAAAGGCCTGTGGGATACTTGTTGGAGAAAGTAGAAAGGAAGTGCAGGGCAACAGACCAAGAAGCTTCCTATTGGCATCATTTTATGATGGAAGGAGGATTAGCTAAAGAAGCAGGAAACAGATTCCAATACCAATTCCTCCAGGAAATAGGTGACCTTGAGCAAATCTCTTAACCTTTCTTGTTCTCATTTTTCCACTTGTAAAAAAAAAGAGAGAGAGAGTGAGTTGGACTAGACTGTCTTTTCCAACTTAGAAGATTCTTTGATGGGATTTGGCCTACTGAAGAGGTGTATCTCTGTCTGACTAGGCTGTAAAATCTCCAAGGTTTGAGATGCTCAGGCTTTCTTTCTACCTTTTCCCCATTTCCCTTCCTACATTTTAGTTTGGATTTGGGAGGTCTGAGGACACTGTCCATCCCAGTTTCTCATTTTGCTTTCAGAGATTTTGCTATACAAATCTCCTTGTGTGTGTCCATTTGGTGTGAAGGTTATATATGTTCTGGTGGTTGTGTGTGAAGGGTCACAGGATTCAAGTTCCACCATCTCCCTTCTCCACAGGAACCATCATCCTGGACTGTGTCAACATGGACCTTAAAATTGGAAAGGCAACCCCAAAGGACAGCAAATATGTGGAGAAACTAGAGGCCCTTTTCCCAGACCTACCCAAGAGAAATGATATATTTGATTCCCTACAAAAGGCAAAGTTTGATGTATCAGGTATGAAATGTTAGCTGACTTTTCTGCCTCCCAGATAAGAAAACAGAAAGGCAAGCCTTGTTCATTATATTATTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGCCACCCAGGCTAGAGTGCAGTGGCACAATCTTGGCACACTGCAACCTCGACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTGGTATTTTTAGTAAAGATCGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCTGAAGCTCAGGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAATTATTTAAATTTTATACCAGAAAGAAATGAAGTACCATATTAGCCTAAGCATGAAATAATCAGTCATTTACTGGATTGTTCTATCCTGGCTCTTGGTTAGGATGAGGAGGAATGTATTAAGAGCCTCAGAAGGGCCAGACGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTAGCTAACATGGTGAAACTCCGTTTCTACTAAAAATACGAAAAATTAGCTGAGCGTGGTGGTGTGTGCCTGTAATCCCATCTACTCAGGAGGCTGAGGCAGGAAAATCGCTTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGTACTCCAGCTTGGGCAACGACAGCGAAACTCCGTCTCAAAAAAAAACAAAAAGAGCCTCATAGGTTCCAGTCTATTCAGAGAATACAGGACATATATATAAAATATGCTGAGAGTATACTAAATTATCAGAGTGAAATCTATAGAATTGGTTAGGGAGGCAAAAGAAATATTTTGTGAGTAAACAAAAGATGAAGAGAACCCAAAAAAAACTGTATTCTTGTACTCAGCTACCACCTGTTGACATAAAAAGGAAGAAAGAAAGAAAGAACTCACATGTAAACAGTATAGGAAGAGGGAAAGATAAAAAGTAAAAGCCTCTGTTCTGGGTTTCATCCTTCTCTCCAAAGTTACTTGCTCTAAAGGTACCTATTGTCACCAGTTATTTAAGATGGCTTTTGATTATGTGATTACATTT
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TTTTTTTTTTATGGAACAGTTCACAAATGTGCATGTCATCCTTGCTCAGCGGCCATGCTAATCTTCTCTGTGTCATTCCAATTTTAGCGCATGTGCTGCTGAAGTGAGCACTGATCTCAGTCTTGAAAGAGGACTAGGTGTTTGCTTGGTGAATTGGGAGGGAGGAGGGAAGGTGGTTAGGAAAGGCATTCCAGGCAGAGGGAGTAATTAATAGAATCAAATGCAGGCAGGCGTGAAATAGCATGGTGAGCTAGGGGAAATGGAATTTGTTTTGCACAGCTGGAGCATAAAATTTGAGGGAGAAGTAGGACATGGAAAAAGATGAGACAGAGGGGGCAGGCAGGAGGCAGATTATGGAGGCCTCATAGGCCCTTCTAAGGTGATTGGATTTTATTTTAGGCCGTGGGGAACTATTTTAAATTATATTCTGGGTCCTAAAAGAATCAGATTTTCTTTTTTCAAATGATCATTCAGGCCACTTTGTGAAGGACAGCCCAGGAGGGCTCTTGGTTGGAAGCAGGTGATTGGTTAAGAGACTACTGGAATAGTCCAGACGAGAGATATTGAGGGCCTAGAGTGGGGCAGTAACAGAGAGTTAGAAACTAGGGCATGGATAGGAATTAAGATAGAATTCACAGGACCTGGTGACCCACATGGAATCTAAGTATTGAGTGGGTTATAAAAATAGGAGAGATTTGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCCTGGTGGTGGGCGCCTGTACTCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCGACACAGCGAGATTCCGTCTTAGAAAAAAAAAAAAAAAGGAGAAATTTAGATGTTGGGTATCAAGGGTGTCAAGGGTATAGGGTTGGAAAGGCAACGCTAAAGGACAGCAAATGTGGGGGTAAGATATTTGCAGCAGATGCTTCACAGAATTTGCTTATACACTATTTAAAGATGACTCCAATTATAACATTAAAGAAAAGAATTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCTCTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTTTACTAAAAATACAAAAAAAAAAATTAGCCGGGTTTGGTGGCACGTGCCTTGTAATCCTGGTTACCCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGGAGCCGAGATCGTGCCATTGCACTCCAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAATTGAGAGGAGTTAGGCAGAGGTAAAAGTAACCAAAGGTCAGTTTTAAATGCTTGCCTGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGACTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGTTGGCAGGCGCCTTTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAGATGCAAAGGTTGCAGTGAGCCAAGAACGCACCATTGCACTCTAGCCTGGGCGACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAGACATCTGCATTTTCCTTGATGTGTGGGGTAGAGGTTGGCTAGAAGCAGCTGGAGTGTCCGTACCTATCTTTCTTCCTCTTTTCCCATACCCTCCCCTCCACAGAAGTGACACAGCCCTAGAGGAGGCAGTAGCAGAGGTGCTAGACCATCGACCCATCGAGCCGAAACACTGCCCTCCCTGCCATGTTTCAGTTGAGCTGGTGGGGTCCTGTGCTACCCTGGTGACCGAGAGAATCCTGCAGGGGGCACCAGAGATCTTGGACAGGCAAACTGCAGCCCTTCCGCATGGTAAGGGTGGCTTTTGGATTGGGACCTCAGTAGTTCTATTCCTGTCCCTGAGAAGGGAGGGTGGAAAAGTCTAGACGCTTCCAGCCTAACCATATGCTCTCAGAGCCATTCAGCTCATACCAAAAGATAGGATTCTTTCAGGGGACAATTGAGCATGTGTTTAAAGGCCTGTGGGATACTTGTTGGAGAAAGTAGAAAGGAAGTGCAGGGCAACAGACCAAGAAGCTTCCTATTGGCATCATTTTATGATGGAAGGAGGATTAGCTAAAGAAGCAGGAAACAGATTCCAATACCAATTCCTCCAGGAAATAGGTGACCTTGAGCAAATCTCTTAACCTTTCTTGTTCTCATTTTTCCACTTGTAAAAAAAAAGAGAGAGAGAGTGAGTTGGACTAGACTGTCTTTTCCAACTTAGAAGATTCTTTGATGGGATTTGGCCTACTGAAGAGGTGTATCTCTGTCTGACTAGGCTGTAAAATCTCCAAGGTTTGAGATGCTCAGGCTTTCTTTCTACCTTTTCCCCATTTCCCTTCCTACATTTTAGTTTGGATTTGGGAGGTCTGAGGACACTGTCCATCCCAGTTTCTCATTTTGCTTTCAGAGATTTTGCTATACAAATCTCCTTGTGTGTGTCCATTTGGTGTGAAGGTTATATATGTTCTGGTGGTTGTGTGTGAAGGGTCACAGGATTCAAGTTCCACCATCTCCCTTCTCCACAGGAACCATCATCCTGGACTGTGTCAACATGGACCTTAAAATTGGAAAGGCAACCCCAAAGGACAGCAAATATGTGGAGAAACTAGAGGCCCTTTTCCCAGACCTACCCAAGAGAAATGATATATTTGATTCCCTACAAAAGGCAAAGTTTGATGTATCAGGTATGAAATGTTAGCTGACTTTTCTGCCTCCCAGATAAGAAAACAGAAAGGCAAGCCTTGTTCATTATATTATTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGCCACCCAGGCTAGAGTGCAGTGGCACAATCTTGGCACACTGCAACCTCGACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTGGTATTTTTAGTAAAGATCGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCTGAAGCTCAGGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAATTATTTAAATTTTATACCAGAAAGAAATGAAGTACCATATTAGCCTAAGCATGAAATAATCAGTCATTTACTGGATTGTTCTATCCTGGCTCTTGGTTAGGATGAGGAGGAATGTATTAAGAGCCTCAGAAGGGCCAGACGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTAGCTAACATGGTGAAACTCCGTTTCTACTAAAAATACGAAAAATTAGCTGAGCGTGGTGGTGTGTGCCTGTAATCCCATCTACTCAGGAGGCTGAGGCAGGAAAATCGCTTGAACCCGGGAAGTGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGTACTCCAGCTTGGGCAACGACAGCGAAACTCCGTCTCAAAAAAAAACAAAAAGAGCCTCATAGGTTCCAGTCTATTCAGAGAATACAGGACATATATATAAAATATGCTGAGAGTATACTAAATTATCAGAGTGAAATCTATAGAATTGGTTAGGGAGGCAAAAGAAATATTTTGTGAGTAAACAAAAGATGAAGAGAACCCAAAAAAAACTGTATTCTTGTACTCAGCTACCACCTGTTGACATAAAAAGGAAGAAAGAAAGAAAGAACTCACATGTAAACAGTATAGGAAGAGGGAAAGATAAAAAGTAAAAGCCTCTGTTCTGGGTTTCATCCTTCTCTCCAAAGTTACTTGCTCTAAAGGTACCTATTGTCACCAGTTATTTAAGATGGCTTTTGATTATGTGATTACATTT
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Task1_train_1546
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Consider this mutation in SCNM1, TNFAIP8L2-SCNM1 (sodium channel modifier 1| TNFAIP8L2-SCNM1 readthrough) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Orofaciodigital syndrome 19
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GCAGGACTTGTGCAACACTGTGATGGGAAAACAAAGATAAAGGCAGAACAGAGTGCAACACATTAGGAACATTTCAGGGGAGGTTACCTAGAAGGGCCACTACATTCTTCTCAGGACTAAATCCCTCCTGACTGTTGTCTTCACCCCAATCCTGGAAAACTCACCGTCACCCCATATTTGAGTGCTAGTCCAGCCAGGGTGTCTCCGGGCTCCAACTGATGCTCCAGGCGTCTTTCCCTCACTGGGGAGCAGGCCGATTGCACCAGGCTTCCATATGAACGAGCCCGGCTCCCTTGAAGCAGTCCTGACCCCCCTGGCGGGGGCTGTCTAGACGGGGAAGCCATCTCTTCACCCTGCCAACAGCTAAGGTTGCAACTAGGGGAGGTACGACCGAGACTGCGACTGACAGGCCTGAAGTCTGGGAATGAATATTCAGGGGATTCCTTTCCCCCTCTCTCTTCCCCTGTGTCCCCGCCTCCCCAGCACTACGCCATCTGCCCCCTCCCGGTTTCTCCTCCCTCCAAGCTACTTATCCACAAATCTGTCCCTTGAGTATTCAGTCCCTCCCTAATTCTCCCCTAAGCACCCCTCCGACTTTGGACTCCCCCACAACTCCTCGCTACATTGACCTCTGACCTTTGAACTCTAGAAATAATCCTCAACACTCTTTCCTCAGTTTGCCCCCAAGTAGCCTGGCCTCAGGGCGCTCCAACATCCCAGCTCTCCCCGGTCCCGGGGTTTGTTTGCTAGAGTCAGGAACAAATCAGGCCCACCCCAGGTGAACTGTCGCCGCAGACGAAGAGCGTGAGGATTGCAAGAATTTGTAGTACACCTTCCACTCAGAGATCCTCAAAGGTCCGCTCCGCATAAGATAGGTCACACCCTCAAATTTCGGCTCCACATCTAGGTTGTTGTCCCTCCAAACGCCTCAGATCCGCCAAGATGCAAGGGCCTGGATCCAGTTGAGCGGCAAGGTCTTTGAGAAAAGACTTCATTTCCCAAAAGGCTCCGCGTCTGCGGAGTCGCAGGGCACCATAGGAAATGCAGTTCCCTCCGAGCACCAGAGAGTGGATTTCCGGATCGCGCAATGCATGCGTGGAAGTGCGTCCCCGGAAGTACGGAGGCCGACAGGAAGAGAAGGAAAAAAGAGAAGGCGCTGTCCCGCTCTTGCTACGGTGGCCTGGAGGAGTGGCGAAACCGGAACAGAGAATTTATCACTTCTGGGACTCACAGTCGTGATGTCTTTCAAGAGGGAAGGAGACGATTGGAGTCAACTCAATGTGCTCAAAGTAAGCGTGAGCGGAGAGGATCTGGAGCCGCTTCAGTCGCTCCCTGAAGGTTGGGAAGGAGCTTTGTTTCATTGCTCTGGCAACAACTCGGGGGTGCAGGAGAGAACCAGGCGACTTAGAGCTGTGTAGTGACTCCTTTTTCGGTCTATGATCGCTGTTCTCCCCAGGGTCCTTATTCCATTTCACTCCTCATTTCTATAATTTCACTTCCACCCCTCTCTCCTATCCCGCTGATCCCGTCCGGATTTCTTCCCCTACTCCCTGCAGAAAAGAAGAGTCGGGGACCTCCTAGCCAGTTACATTCCAGAGGATGAGGCGCTGATGCTTCGGGATGGACGGTAAGAGCAAGGAGTGGCTCAAGCCTGAGGGTTCTGCGGTTAGAGGCTCAATAGACTTTTTTTTTTTTTTCCTTTGAGACGGAGGTCTCGCGGTGCTGCCCAGGCTGCCCTCGAACTCTAGGGCTCAAGTGATCCTGCCTCCTCAGCGTCGCGATTAGCTGGGTTTACAAGCGCATGCCACCACGCCTGGCTTCAACAAACTTTTGTTATTAATTAGGACAGCAGGAGTACCTAGGATTCTTTGGCGGCCAGTGAGGACTGGAAGAAGTGGAGATTGGGTCACCAGGGAGTTGGGTTTTGCAAAGACTGCTAGGACAGGGTGGGACCTATGGCAGGGACGGGCCCAACCCTCTTCCCCTGGACCACTTATCCTCTTCTCTACCCCTGCTCAGCTTTGCTTGTGCCATCTGCCCCCATCGACCGGTACTGGACACCCTGGCCATGCTGACTGCCCACCGTGCAGGCAAGAAACATCTGTCCAGTAAGTTAGGGGGAAGACGGGATGGGGAATAAACCCTCGAAATCTCTGCACACCACTCTTGGTGCTATGCTTTTAATTCTGTTTCCCTTTCTCCTCAGGCTTGCAGCTTTTCTATGGCAAGAAGCAGCCGGGAAAGGAAAGAAAGCAGAATCCAAAACATCAGAATGAATTGAGAAGGGAAGAAACCAAAGCTGAGGTAATCAGAGAGTGGAGAGTGTGTTCTAGGCAAGACCCTGCTGCACACACCAGGCTGGAAGGGCGGAGGGCTGAAGGCTCTGACTCTGTCTCCCATCTCCTTACCAGGCTCCTCTGCTAACTCAGACACGACTTATCACCCAGAGTGCTCTGCACAGAGCTCCCCACTATAACAGTTGCTGCCGCCGGAAGTACAGGTATGGGACGGGAAAGCCAGAGGTAGGAAGGCTCAGAAGGAGACAGATGGCTCTAAAAGAGTTTTCCAGTGTGTATTCTGAGGAATACTAGTGTTCTGGAGATGTTACTTAGTGTTTCAAGAAAAGGAGAATTTTGGCTGGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTTGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACCAAAAATGTAAAAAATTAGCTGGGTGTGTGGTGTGTGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAATCCGGGAGACAGAGGTTGCAGTGAGCCACGGTCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAGAAAAGAAAGAAAAAGAAAAGGAGAATTTTGTGATTTTTAAATAAAGTTTGGGAAATGGCACTTTGTAATTCTACTTGAAGAATAACAGTTTTAAAAACTATACAAAGTCTTAAGATTAAAAAAAACTTGTAAAATTTTAAGCTAGCCTTTCCCAAATTCATGATTCTGAAATCCTTTGTATGCAGAACTTATTAATATCTTGAGAAATATAGTTTAAGAAGCACTGTTTTAAGAGGTTGGGAGTCATAGGAGAGTTGGCCCTTTCCCTTACTGCTTTTACAGACTATTCTTCTCTACCTAGACCAGAAGCCCCTGGTCCCTCTGTCTCCCTTTCCCCTATGCCACCCTCAGAGGTCAAACTCCAAAGTGGGAAGATCAGTAGGGAACCTGAACCTGCGGCTGGCCCACAGGCCGAGGAGTCAGCAACTGTCTCAGCCCCTGCACCCATGAGCCCCACAAGAAGACGAGCCCTGGACCATTATCTCACCCTTCGAAGGTGAGTATGCCTAATCAGTTTCCTCAGATTTTCTTTTCTCTCTGACACCCTTGTTTCAAAGCTATTGTTTTTCCTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCCAGCTGGAGTGCAATGGCACGCTCTCGGCTCACTGTAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCATGTGCCATCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGCCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGTTTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACCGCACCCGGACTCCCATTGTTGTTTTCCATCTTTGGTTTCGTTTTGTTTTAGCCACCCAACTTACATGGCTCTCAATTTTTTCTCACTGCTAACTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTAGAGACAGGGTTTCACTATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAGAGTGCTGGGATTACTGGTGTGAGCTCACCACTAACTTCTTAATAAGCCTCTTTCCTGATCGATGCTATTTTCTCTGATGTTTCCAGCTCTGGATGGATCCCAGATGGACGA
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GCAGGACTTGTGCAACACTGTGATGGGAAAACAAAGATAAAGGCAGAACAGAGTGCAACACATTAGGAACATTTCAGGGGAGGTTACCTAGAAGGGCCACTACATTCTTCTCAGGACTAAATCCCTCCTGACTGTTGTCTTCACCCCAATCCTGGAAAACTCACCGTCACCCCATATTTGAGTGCTAGTCCAGCCAGGGTGTCTCCGGGCTCCAACTGATGCTCCAGGCGTCTTTCCCTCACTGGGGAGCAGGCCGATTGCACCAGGCTTCCATATGAACGAGCCCGGCTCCCTTGAAGCAGTCCTGACCCCCCTGGCGGGGGCTGTCTAGACGGGGAAGCCATCTCTTCACCCTGCCAACAGCTAAGGTTGCAACTAGGGGAGGTACGACCGAGACTGCGACTGACAGGCCTGAAGTCTGGGAATGAATATTCAGGGGATTCCTTTCCCCCTCTCTCTTCCCCTGTGTCCCCGCCTCCCCAGCACTACGCCATCTGCCCCCTCCCGGTTTCTCCTCCCTCCAAGCTACTTATCCACAAATCTGTCCCTTGAGTATTCAGTCCCTCCCTAATTCTCCCCTAAGCACCCCTCCGACTTTGGACTCCCCCACAACTCCTCGCTACATTGACCTCTGACCTTTGAACTCTAGAAATAATCCTCAACACTCTTTCCTCAGTTTGCCCCCAAGTAGCCTGGCCTCAGGGCGCTCCAACATCCCAGCTCTCCCCGGTCCCGGGGTTTGTTTGCTAGAGTCAGGAACAAATCAGGCCCACCCCAGGTGAACTGTCGCCGCAGACGAAGAGCGTGAGGATTGCAAGAATTTGTAGTACACCTTCCACTCAGAGATCCTCAAAGGTCCGCTCCGCATAAGATAGGTCACACCCTCAAATTTCGGCTCCACATCTAGGTTGTTGTCCCTCCAAACGCCTCAGATCCGCCAAGATGCAAGGGCCTGGATCCAGTTGAGCGGCAAGGTCTTTGAGAAAAGACTTCATTTCCCAAAAGGCTCCGCGTCTGCGGAGTCGCAGGGCACCATAGGAAATGCAGTTCCCTCCGAGCACCAGAGAGTGGATTTCCGGATCGCGCAATGCATGCGTGGAAGTGCGTCCCCGGAAGTACGGAGGCCGACAGGAAGAGAAGGAAAAAAGAGAAGGCGCTGTCCCGCTCTTGCTACGGTGGCCTGGAGGAGTGGCGAAACCGGAACAGAGAATTTATCACTTCTGGGACTCACAGTCGTGATGTCTTTCAAGAGGGAAGGAGACGATTGGAGTCAACTCAATGTGCTCAAAGTAAGCGTGAGCGGAGAGGATCTGGAGCCGCTTCAGTCGCTCCCTGAAGGTTGGGAAGGAGCTTTGTTTCATTGCTCTGGCAACAACTCGGGGGTGCAGGAGAGAACCAGGCGACTTAGAGCTGTGTAGTGACTCCTTTTTCGGTCTATGATCGCTGTTCTCCCCAGGGTCCTTATTCCATTTCACTCCTCATTTCTATAATTTCACTTCCACCCCTCTCTCCTATCCCGCTGATCCCGTCCGGATTTCTTCCCCTACTCCCTGCAGAAAAGAAGAGTCGGGGACCTCCTAGCCAGTTACATTCCAGAGGATGAGGCGCTGATGCTTCGGGATGGACGGTAAGAGCAAGGAGTGGCTCAAGCCTGAGGGTTCTGCGGTTAGAGGCTCAATAGACTTTTTTTTTTTTTTCCTTTGAGACGGAGGTCTCGCGGTGCTGCCCAGGCTGCCCTCGAACTCTAGGGCTCAAGTGATCCTGCCTCCTCAGCGTCGCGATTAGCTGGGTTTACAAGCGCATGCCACCACGCCTGGCTTCAACAAACTTTTGTTATTAATTAGGACAGCAGGAGTACCTAGGATTCTTTGGCGGCCAGTGAGGACTGGAAGAAGTGGAGATTGGGTCACCAGGGAGTTGGGTTTTGCAAAGACTGCTAGGACAGGGTGGGACCTATGGCAGGGACGGGCCCAACCCTCTTCCCCTGGACCACTTATCCTCTTCTCTACCCCTGCTCAGCTTTGCTTGTGCCATCTGCCCCCATCGACAGGTACTGGACACCCTGGCCATGCTGACTGCCCACCGTGCAGGCAAGAAACATCTGTCCAGTAAGTTAGGGGGAAGACGGGATGGGGAATAAACCCTCGAAATCTCTGCACACCACTCTTGGTGCTATGCTTTTAATTCTGTTTCCCTTTCTCCTCAGGCTTGCAGCTTTTCTATGGCAAGAAGCAGCCGGGAAAGGAAAGAAAGCAGAATCCAAAACATCAGAATGAATTGAGAAGGGAAGAAACCAAAGCTGAGGTAATCAGAGAGTGGAGAGTGTGTTCTAGGCAAGACCCTGCTGCACACACCAGGCTGGAAGGGCGGAGGGCTGAAGGCTCTGACTCTGTCTCCCATCTCCTTACCAGGCTCCTCTGCTAACTCAGACACGACTTATCACCCAGAGTGCTCTGCACAGAGCTCCCCACTATAACAGTTGCTGCCGCCGGAAGTACAGGTATGGGACGGGAAAGCCAGAGGTAGGAAGGCTCAGAAGGAGACAGATGGCTCTAAAAGAGTTTTCCAGTGTGTATTCTGAGGAATACTAGTGTTCTGGAGATGTTACTTAGTGTTTCAAGAAAAGGAGAATTTTGGCTGGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTTGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACCAAAAATGTAAAAAATTAGCTGGGTGTGTGGTGTGTGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAATCCGGGAGACAGAGGTTGCAGTGAGCCACGGTCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAGAAAAGAAAGAAAAAGAAAAGGAGAATTTTGTGATTTTTAAATAAAGTTTGGGAAATGGCACTTTGTAATTCTACTTGAAGAATAACAGTTTTAAAAACTATACAAAGTCTTAAGATTAAAAAAAACTTGTAAAATTTTAAGCTAGCCTTTCCCAAATTCATGATTCTGAAATCCTTTGTATGCAGAACTTATTAATATCTTGAGAAATATAGTTTAAGAAGCACTGTTTTAAGAGGTTGGGAGTCATAGGAGAGTTGGCCCTTTCCCTTACTGCTTTTACAGACTATTCTTCTCTACCTAGACCAGAAGCCCCTGGTCCCTCTGTCTCCCTTTCCCCTATGCCACCCTCAGAGGTCAAACTCCAAAGTGGGAAGATCAGTAGGGAACCTGAACCTGCGGCTGGCCCACAGGCCGAGGAGTCAGCAACTGTCTCAGCCCCTGCACCCATGAGCCCCACAAGAAGACGAGCCCTGGACCATTATCTCACCCTTCGAAGGTGAGTATGCCTAATCAGTTTCCTCAGATTTTCTTTTCTCTCTGACACCCTTGTTTCAAAGCTATTGTTTTTCCTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCCAGCTGGAGTGCAATGGCACGCTCTCGGCTCACTGTAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCATGTGCCATCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGCCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGTTTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACCGCACCCGGACTCCCATTGTTGTTTTCCATCTTTGGTTTCGTTTTGTTTTAGCCACCCAACTTACATGGCTCTCAATTTTTTCTCACTGCTAACTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTAGAGACAGGGTTTCACTATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAGAGTGCTGGGATTACTGGTGTGAGCTCACCACTAACTTCTTAATAAGCCTCTTTCCTGATCGATGCTATTTTCTCTGATGTTTCCAGCTCTGGATGGATCCCAGATGGACGA
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Task1_train_1547
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With a mutation on Chromosome 1 in gene ZNF687 (zinc finger protein 687), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Paget disease of bone 6
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GCCTGGGGAGTTTCACCATGTTGCCCAGGGTGGTCTTGAACTCCTGGGCCCAAGTGATTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCCGGCCATTTGTGTCCTCTTTCAAACAGCAAAAGTAAGGCACTGAAGAAACTTGCTTGTACTGCACGCCCCTGATAAAGCTGAACGAGGATCATTTCTTAAGTCTTGGCTTATGGCATTGTCCCTTTGTACATGCAGCCTTTCAGATCTGTGTGGACCCCAGAAGATCCGTGAAGAATATGAATTGATTCCATGCGGACATGAATGAGTCCTTAAACCTAGAACATCATGTACATCATCCTCCTTAATAATAGTATTGATTATTTGGTTCTATGCTGGGGACCGGAGGGGATGAGATGGTTTCCACCAGAATGCTCACTGAGCTCTATTACCCTTCCCTGTTCCCTGTATTTTTTTTTTTTTTCTGAGACAGTCTTGCTCTGTCGCCCAGGTGGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCTGCCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATCTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCTGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCCCTATATTTCTTTTTTTTGAGACAGGGTCTCGCTCTGTCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGAAACCTCAACCTCATGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTTTGTAGCTGCGATTACAGGCATGTGCCACCACACCTGTCTAGTTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAAGTGATCCATCTGCCTCAGCCTCCCAAAACGCTGGGATTACAAGCATGAGCCACCGCACCTGGCCCCTTCCCTGTATTTCTAAGAACTCTCTTTTCCCCTGCTTTCTCTGGATTTTGGAGCCCACCAAGGTATGGACACTAATCCTCTTCTGATTTTAAGGTTTGGCAAACCTAGCAGCTCTGTAGGATTCATGCCGTGGCGGAGGTGTACCTAAGTTGGAGTGTATGTGGGTTCTGAGAGAGGATAAATATGGAGATGCTGAGGGAAGAGCTCCAGGATCTCTCTTCTAGACATCTCAGTTTCTCCTCCTCGTTCCTGTTTTCATCAGGTCTGGGATCTGCCGATATGGGGGATATGAAGACCCCTGATTTTGATGACCTCCTTGCTGCCTTTGACATCCCTGACATTGATGCGAATGAAGCCATCCATTCTGGGCCAGAAGAAAATGAGGGGCCTGGAGGCCCAGGGAAGCCAGAACCAGGTGTAGGAAGTGAATCTGAAGACACAGCAGCAGCCTCTGCTGGGGATGGCCCTGGAGTTCCAGCCCAGGCCTCTGACCATGGCCTGCCACCGCCAGACATTTCTGTAGTCAGTGTCATTGTCAAGAACACTGTGTGTCCCGAGCAGTCTGAGGCCCTGGCTGGAGGCTCAGCAGGAGACGGGGCCCAGGCTGCTGGGGTAACTAAAGAAGGGCCTGTGGGGCCTCATCGAATGCAGAATGGTTTTGGGAGCCCTGAACCTTCCCTCCCAGGAACTCCCCACTCTCCTGCTCCTCCCAGTGGGGGCACCTGGAAAGAAAAAGGCATGGAAGGCAAAACTCCCTTGGACCTGTTTGCTCATTTTGGCCCTGAGCCAGGGGACCACTCAGATCCGCTGCCTCCCTCTGCACCCTCTCCCACTCGGGAGGGGGCTCTGACCCCGCCTCCTTTCCCCTCTTCCTTTGAGCTGGCCCAGGAGAATGGCCCAGGCATGCAGCCACCTGTTTCTTCCCCACCATTGGGGGCCTTGAAGCAGGAGAGCTGCAGCCCCCATCATCCCCAGGTCCTAGCCCAACAAGGCTCAGGCTCCAGCCCTAAGGCCACGGACATCCCTGCCAGTGCCTCGCCTCCCCCAGTTGCTGGGGTGCCCTTCTTCAAGCAGTCTCCAGGGCACCAGAGCCCTCTTGCCTCCCCCAAAGTGCCCGTCTGTCAGCCCTTGAAGGAAGAAGATGATGATGAGGGGCCAGTGGACAAGTCTTCCCCAGGAAGTCCCCAGAGTCCCTCTAGTGGGGCCGAGGCTGCAGATGAGGACAGCAATGACTCCCCTGCCTCCAGCTCCTCTAGGCCTCTTAAGGTGCGGATCAAGACCATTAAAACATCCTGCGGGAATATCACAAGGACTGTAACTCAGGTCCCCTCAGATCCTGATCCACCTGCCCCCTTGGCTGAGGGGGCCTTCTTGGCTGAGGCTAGCCTCTTGAAGCTGTCCCCTGCAACACCTACTTCTGAGGGTCCAAAGGTGGTGAGCGTACAGTTGGGTGATGGTACAAGGCTGAAAGGCACTGTGCTGCCTGTGGCCACCATCCAGAACGCCAGTACTGCCATGCTGATGGCAGCCAGTGTGGCTCGCAAGGCTGTGGTGCTGCCTGGGGGGACTGCCACCAGCCCTAAGATGATTGCTAAGAACGTGCTAGGCCTGGTGCCCCAAGCCCTGCCTAAGGCTGACGGGCGGGCAGGGCTGGGGACTGGGGGACAGAAGGTGAATGGTGCCTCGGTGGTGATGGTGCAACCTTCAAAGACAGCTACTGGGCCAAGTACAGGGGGCGGCACAGTGATATCACGGACCCAGTCCAGCCTGGTGGAGGCCTTCAACAAGATCCTCAACAGCAAGAACCTGCTCCCTGCCTATAGGCCAAACCTGAGCCCACCAGCTGAGGCTGGGCTGGCCCTGCCTCCCACCGGCTACCGCTGCCTGGAGTGTGGGGATGCCTTCTCATTGGAGAAGAGCCTGGCACGGCACTATGACCGTCGGAGCATGCGCATCGAGGTCACCTGCAACCACTGCGCCCGCCGCCTGGTCTTCTTCAACAAGTGCAGCCTGCTCCTGCATGCACGTGAACACAAGGACAAGGGGCTCGTCATGCAGTGCTCACATTTGGTCATGAGGCCTGTAGCCCTTGACCAGATGGTGGGGCAGCCGGACATCACACCGCTGCTGCCTGTAGCTGTCCCACCTGTCTCTGGACCTCTGGCCTTGCCTGCCTTGGGCAAGGGTGAGGGGGCCATCACCTCCTCTGCCATTACTACAGTTGCTGCTGAGGCCCCTGTCCTGCCGCTCTCCACAGAGCCGCCTGCTGCCCCGGCCACCTCTGCTTACACATGCTTTCGCTGCCTGGAGTGCAAGGAACAGTGCCGGGACAAGGCTGGCATGGCAGCTCACTTCCAGCAGCTCGGCCCCCCTGCCCCTGGGGCCACCAGCAATGTGAGTCACCTTTCACAGCCCTTCTGTGGGGACAGGATCTAGGAAGGCGTTGGGGGCTTGGTTAGAAGTAATGGAGACAGGACACTCCTCACCGACTTTCCTTGTTTAACCCACTCGACAGGTGTGCCCAACCTGCCCCATGATGCTCCCCAATCGCTGCAGCTTCAGCGCCCACCAGCGCATGCATAAGAATCGACCCCCCCATGTCTGTCCTGAGTGTGGGGGCAACTTCCTGCAAGCCAATTTTCAGACCCATCTCCGGGAGGCCTGTCTGCACGTCTCTCGCCGTGTAGGATACAGGTGCCTCGGACCCTTCCTCCATAGAACTGTAGGGTTTCGTGTGTCCTAGCCTCAGCCTCAGATGGCCTTTCAAGATCCCCTATCTTCCCTGCTATATCCCTCAGCCCTGTTGTTTTGCCAGACTCAACCCTGAGATAGTACGTCCTGCCTTCCCGTCGTCCCCCATGGAGATGGGGGGAAGCAGGGCCACCTCTGGAGCTCCAGCTCTCCCTTGGCAGCCTCCCTTGGGGCACAGCCTCTGCACCTCTCTCCTTTCTCCACCCTGCTCATGCTCCACTACTGATTTCCTTCTTGTAGTCTACCCAGTCCCAGAGAATAAATGTATGGTCCCGGGGTGGGCATGGAGATGCCTCCCAC
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GCCTGGGGAGTTTCACCATGTTGCCCAGGGTGGTCTTGAACTCCTGGGCCCAAGTGATTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCCGGCCATTTGTGTCCTCTTTCAAACAGCAAAAGTAAGGCACTGAAGAAACTTGCTTGTACTGCACGCCCCTGATAAAGCTGAACGAGGATCATTTCTTAAGTCTTGGCTTATGGCATTGTCCCTTTGTACATGCAGCCTTTCAGATCTGTGTGGACCCCAGAAGATCCGTGAAGAATATGAATTGATTCCATGCGGACATGAATGAGTCCTTAAACCTAGAACATCATGTACATCATCCTCCTTAATAATAGTATTGATTATTTGGTTCTATGCTGGGGACCGGAGGGGATGAGATGGTTTCCACCAGAATGCTCACTGAGCTCTATTACCCTTCCCTGTTCCCTGTATTTTTTTTTTTTTTCTGAGACAGTCTTGCTCTGTCGCCCAGGTGGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCTGCCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATCTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCTGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCCCTATATTTCTTTTTTTTGAGACAGGGTCTCGCTCTGTCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGAAACCTCAACCTCATGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTTTGTAGCTGCGATTACAGGCATGTGCCACCACACCTGTCTAGTTTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCAAGTGATCCATCTGCCTCAGCCTCCCAAAACGCTGGGATTACAAGCATGAGCCACCGCACCTGGCCCCTTCCCTGTATTTCTAAGAACTCTCTTTTCCCCTGCTTTCTCTGGATTTTGGAGCCCACCAAGGTATGGACACTAATCCTCTTCTGATTTTAAGGTTTGGCAAACCTAGCAGCTCTGTAGGATTCATGCCGTGGCGGAGGTGTACCTAAGTTGGAGTGTATGTGGGTTCTGAGAGAGGATAAATATGGAGATGCTGAGGGAAGAGCTCCAGGATCTCTCTTCTAGACATCTCAGTTTCTCCTCCTCGTTCCTGTTTTCATCAGGTCTGGGATCTGCCGATATGGGGGATATGAAGACCCCTGATTTTGATGACCTCCTTGCTGCCTTTGACATCCCTGACATTGATGCGAATGAAGCCATCCATTCTGGGCCAGAAGAAAATGAGGGGCCTGGAGGCCCAGGGAAGCCAGAACCAGGTGTAGGAAGTGAATCTGAAGACACAGCAGCAGCCTCTGCTGGGGATGGCCCTGGAGTTCCAGCCCAGGCCTCTGACCATGGCCTGCCACCGCCAGACATTTCTGTAGTCAGTGTCATTGTCAAGAACACTGTGTGTCCCGAGCAGTCTGAGGCCCTGGCTGGAGGCTCAGCAGGAGACGGGGCCCAGGCTGCTGGGGTAACTAAAGAAGGGCCTGTGGGGCCTCATCGAATGCAGAATGGTTTTGGGAGCCCTGAACCTTCCCTCCCAGGAACTCCCCACTCTCCTGCTCCTCCCAGTGGGGGCACCTGGAAAGAAAAAGGCATGGAAGGCAAAACTCCCTTGGACCTGTTTGCTCATTTTGGCCCTGAGCCAGGGGACCACTCAGATCCGCTGCCTCCCTCTGCACCCTCTCCCACTCGGGAGGGGGCTCTGACCCCGCCTCCTTTCCCCTCTTCCTTTGAGCTGGCCCAGGAGAATGGCCCAGGCATGCAGCCACCTGTTTCTTCCCCACCATTGGGGGCCTTGAAGCAGGAGAGCTGCAGCCCCCATCATCCCCAGGTCCTAGCCCAACAAGGCTCAGGCTCCATCCCTAAGGCCACGGACATCCCTGCCAGTGCCTCGCCTCCCCCAGTTGCTGGGGTGCCCTTCTTCAAGCAGTCTCCAGGGCACCAGAGCCCTCTTGCCTCCCCCAAAGTGCCCGTCTGTCAGCCCTTGAAGGAAGAAGATGATGATGAGGGGCCAGTGGACAAGTCTTCCCCAGGAAGTCCCCAGAGTCCCTCTAGTGGGGCCGAGGCTGCAGATGAGGACAGCAATGACTCCCCTGCCTCCAGCTCCTCTAGGCCTCTTAAGGTGCGGATCAAGACCATTAAAACATCCTGCGGGAATATCACAAGGACTGTAACTCAGGTCCCCTCAGATCCTGATCCACCTGCCCCCTTGGCTGAGGGGGCCTTCTTGGCTGAGGCTAGCCTCTTGAAGCTGTCCCCTGCAACACCTACTTCTGAGGGTCCAAAGGTGGTGAGCGTACAGTTGGGTGATGGTACAAGGCTGAAAGGCACTGTGCTGCCTGTGGCCACCATCCAGAACGCCAGTACTGCCATGCTGATGGCAGCCAGTGTGGCTCGCAAGGCTGTGGTGCTGCCTGGGGGGACTGCCACCAGCCCTAAGATGATTGCTAAGAACGTGCTAGGCCTGGTGCCCCAAGCCCTGCCTAAGGCTGACGGGCGGGCAGGGCTGGGGACTGGGGGACAGAAGGTGAATGGTGCCTCGGTGGTGATGGTGCAACCTTCAAAGACAGCTACTGGGCCAAGTACAGGGGGCGGCACAGTGATATCACGGACCCAGTCCAGCCTGGTGGAGGCCTTCAACAAGATCCTCAACAGCAAGAACCTGCTCCCTGCCTATAGGCCAAACCTGAGCCCACCAGCTGAGGCTGGGCTGGCCCTGCCTCCCACCGGCTACCGCTGCCTGGAGTGTGGGGATGCCTTCTCATTGGAGAAGAGCCTGGCACGGCACTATGACCGTCGGAGCATGCGCATCGAGGTCACCTGCAACCACTGCGCCCGCCGCCTGGTCTTCTTCAACAAGTGCAGCCTGCTCCTGCATGCACGTGAACACAAGGACAAGGGGCTCGTCATGCAGTGCTCACATTTGGTCATGAGGCCTGTAGCCCTTGACCAGATGGTGGGGCAGCCGGACATCACACCGCTGCTGCCTGTAGCTGTCCCACCTGTCTCTGGACCTCTGGCCTTGCCTGCCTTGGGCAAGGGTGAGGGGGCCATCACCTCCTCTGCCATTACTACAGTTGCTGCTGAGGCCCCTGTCCTGCCGCTCTCCACAGAGCCGCCTGCTGCCCCGGCCACCTCTGCTTACACATGCTTTCGCTGCCTGGAGTGCAAGGAACAGTGCCGGGACAAGGCTGGCATGGCAGCTCACTTCCAGCAGCTCGGCCCCCCTGCCCCTGGGGCCACCAGCAATGTGAGTCACCTTTCACAGCCCTTCTGTGGGGACAGGATCTAGGAAGGCGTTGGGGGCTTGGTTAGAAGTAATGGAGACAGGACACTCCTCACCGACTTTCCTTGTTTAACCCACTCGACAGGTGTGCCCAACCTGCCCCATGATGCTCCCCAATCGCTGCAGCTTCAGCGCCCACCAGCGCATGCATAAGAATCGACCCCCCCATGTCTGTCCTGAGTGTGGGGGCAACTTCCTGCAAGCCAATTTTCAGACCCATCTCCGGGAGGCCTGTCTGCACGTCTCTCGCCGTGTAGGATACAGGTGCCTCGGACCCTTCCTCCATAGAACTGTAGGGTTTCGTGTGTCCTAGCCTCAGCCTCAGATGGCCTTTCAAGATCCCCTATCTTCCCTGCTATATCCCTCAGCCCTGTTGTTTTGCCAGACTCAACCCTGAGATAGTACGTCCTGCCTTCCCGTCGTCCCCCATGGAGATGGGGGGAAGCAGGGCCACCTCTGGAGCTCCAGCTCTCCCTTGGCAGCCTCCCTTGGGGCACAGCCTCTGCACCTCTCTCCTTTCTCCACCCTGCTCATGCTCCACTACTGATTTCCTTCTTGTAGTCTACCCAGTCCCAGAGAATAAATGTATGGTCCCGGGGTGGGCATGGAGATGCCTCCCAC
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Task1_train_1548
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This alteration in PI4KB (phosphatidylinositol 4-kinase beta) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Hearing loss, autosomal dominant 87
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CTTCTCAGGGAAGAGGTGGTAGTGACCAAGACAGGCAGGGAAAAAGCAAACTTCTATGTAGTGCCTTTTGTATCTTGGACACTGAGGCATCCGTTCATACCTCATCACCCATCTCCCCCTGCACTCCCCCAGAAAACCTGGAAATGACACAAGTGGCTAACTAAGGACTTTATTTCAAACAAAAATTAAAAATAAAAAATTGAGAGCTCTTTTCCCTGGGTTTGGGGAAGGAGTCAGGGTAGGGAATTCCACATGGCTAGGCCAGTACCCTCAGTACACTGGAGGGCTGTGGGAATTCCCTTCCTTGCCCATGATGGGGAACCTCAGCAAGTGCAGGGCCCACGCAGCGCCCGCCAGCAAGGGGAGCTTGGGCCAGGGGTCGGTCCCTGGGAGGGGTAGGTCCCTGGGAGGGGTAGAGCTGGGCAGCAGCATGGCCAGTGGCCAACCACAGGATCAAGTCCTAAGTACCGAGAACCTACTCTTCCCCACTTCCTGGGCCCCAGAACGGAATAAGAGGATGGCCTGTGGAAAGAACCTCTGAGAGACCCCTACAAGGAGAAGAAAGGCCCCAGTGTCCCTCACATTTGTCACCTCTGTTTTCTGGAGGGCAGTGAGTCCTGGAGTCAGTCTGGTGGTAATACTGACACAGACCAGGAGGGGCAGGGAAGCCCCAACAAGTCTGGACCCCACAGCTGGCTCTCCCACCCCTCAGCAAGCTCTCGCAGTTACCACATGATCCTTCGTGTTTCTTGCCTTCCATTTCCCTTGGGTGGATGGTTGGGTAGGTGGGGTTTCCTGGTTTGGGGTTTCTCAGACAAGGGCCCTCTAGGGAGGGTGCCCTGGACCCCCCACCACTCCTGGGCTGAGGAGCGTGTCACATGATGCCGTTGGTGAGGTACTGGAAGCCGTCATAGAGTTTGGTGGTGATAGACCGCATACTGCCATCCACCATCTGCTCCACCAGCAGCTGCAGCTGCTCCTCAGTCATGCTCATGTGGAACCTCTCTTTGAGGTTTCGAATGGTGCTGGAGCCATGGAAGCAAGGAAGCTGAGAACCTGGGGGAAGCAGTCGGAGTTCAGGGTCATGGATGGACGGGAGGGGCAGTGGTGTCAGCCATAGCAAATACAGAGCTGGGGCATCTGAAGTGCCCTTTTCCTCCCACCTCAGGTCCTTGATGATGTGGGTGCAGTTCTGCTTGGGCAGAGAGAAGGAACCGGCAGGAACCCCTCATCACCCCACGCCTAAGCCCTTCTGTAGGTGAGGGCATGTGGGCAGAGGAAGGAAGGGGACCAACACCACATCTCCCTCAGTAAGGGTGGAGGGGCCCAGAGGGCAGGCTGGGAGGAGGCTGGAGGGAGTGGGCCCTGAGCTGGGCACTTATCTGGTTGCAGACCTCTGCCTATGCTACGTCTGACACTCACAGATGACCTGGGCCACCGTCATCATGGGGCCAGATGGGGATGATCCTGAGCAACGGCGACAACCTGTGGGGTAGGGGCAGGAATGGGGAGGAGGGGGAGACTGGCAGTTCAGACCTGGTATACACCTGGAGCCTTGAGGAGGGGGATGAGGACAGAAGGGGGTCCTGGGCAAAAGACTGTAGATGGCAAGACTGTAGTGGAAGGAGATAATGATGAGAGGGGAAATACTTCTCAGAGCTGAAGGGTGGCAGAGGACAGGGCAATCAGAGGTCATAGTGGAATGGAGAAGACAGATGGAAGGAGACTGAGAAACTCAGAGCTGGACAGGGGTGGGGAGGTGAGAAGGGACCAGGAGGCTGTAAATGGGCCTGTTTTCTCCCTAAAGATGCCAAGGAGGCAGGTGCTGCTATCCCCTTCCCCAGCCTTCTGGACTTAGCCTTACCAGGGTCAGGAGGAATGTCCTAAAGGAGAAACAAGGCACTGGACCAGAGCTAGAAACTCTCTGGGAACCCCCCTCCCTCAACCGAGTCTCGTGGGATCAGCTTTCTTATGCTCCAGGGCTCCGACTTAAAGGGGAAGCCTGAGGCACTATAGCACCTGACCTCACCCCAGCCCCACCTTGCTGCATGATCTCCACGATCTGCACCACCTTGTCCATGTGTTTCCGAGCGGCAATCAGCCCTTGCAGCATCAGCATCTTATAGTAGTTGAACATGTCGCCATCCAGGCCGCCCATCACCTGGAAAGGGAAGAGAGCGTTGTGTGCACAAGGGGTCTTACACCGGGGATGGTCCCTGTCCTGACTGGCCTACCAGAACTCCTCCTCCTCTTGGGGCCCTGTTATTTCCCCCTTCCTTATTGGGCAGGAAGCTCCCAGGAACTCCTGCCTCACCCCTAATTACTGCCTGTTCTGTTCATCCCTAATTTGCAGGGAGCCCATCAGCTCCCTCTCCCATGACAGAGAAAGAATACAATGACCCCCGAGAGGCACCTCTCCTTCTTGACTCACATCCACAAACTCTGTGGTCAGCTTAAAGGCTGACGTCTCAAAGCCCAGATTTCGGGGTGAGCTGGAGAGGATGAAGCCAAAGTCGATGTGGATGATGTGGCCTTCTGCGTCCAAAAGGATATTCCCATTGTGTCTGAGGAGGGGGAATAGAGGAGAGGAAGAGGCAGTAGTCAGTCTGACTGAGGCTGGAACCTTAAGCAGCAATACACTGGCCACATGACACCAGGGAGGGGGGTCCCCTGCCATGTTTCCTGCTGCCCGTAACTCCAATCTCCTGTCCAGTTTCCTAGGACCTAAAGCTATCAGTGGAAAGAAAGGAAATCAGAAAACTGCTAACAAAGGCTATGGGGTCTGAAATTGCTATTAATAATTTAATAAAAATAGTTTAAGATTCTCCCAATTTCCCAGAAATTGCACTTCTGGCACCCAAACTATCCCAATCTAGTAGAGAATCCAGAAGCAAGGAAAGAGGGCCTCTGAGGCTCCAGCCAGCTGTCACAGAGGCCAAGCGCTCTACTCAGGGGAGGCTCTATTCTGAGCCTGTTTACCTGTGGGTTATTTGTAACTCCTGTCAGCCCACTGCAGATCAGAGGCCTCACTGGAAGGGAACAACAACAGAAGCAAGCAGGCTGAGTGGAGCTGAAATGTAAAATAGCGTGGGGGCTTCAAGGGGTAAGTTTTAAATCACTTACTTAAAAAGTCTCAGGATGAGGCAGTACTACAGGGCAGCTGTAGAAGAGTTAAAGGGAGATAAATCCCAGGTCTTTGTGATTCCCACATGAATGGCCAGTAGCAGAAGGAACAATTAACATGCTAAGCATGTGAGGCCTGGCCTATTCAGCATAACTGGCCTACTCAGTGTCAATAGAGGCTTTGTTAGGCTAAGAGCTGATGGTCTGAGGGCCACCTTCTCTGGGGTTGGTTTGGCCAAAAGAGGAGGGACAAAAGGAGAACCTAGTCCAACCTGAGTTCTTCCCCACTCAGGGAAAACACTAAAGATTTAGCAATCCAGGCACAATCTTGTGAGCCAGAATGGTTCTAGGAGTTGTCATGGTTCAACCTCACATTTTACAGGTGAAGAAAACAGAGGCCCTGAGAGAGGAAGTGATTTACTTGCCCAAGGTGCCATAGCCTCTCTTTTCACTACCAGAGTTAGCTCCAGCTGGAAAGCTGCTTAGGACTACTTTTGAAGCAGTTAAAGAGATCCTAAAACCTGACTCCAGTATGGGGCCTCATTCATTGTTGCCACTTCTTTCCATTGGTTGATTCCATTCATGGCTCGACTATATCTATTCTTTTTTGAGGTACTATGAACGGCTTATCAGCTACCTGCCCTCCTCTATCCCTTCTTTTTTAGAGGATGGACTCTCATCTTCCAAACATACTAATTCCCTAAAGGAAAGCCCTGGGGCCTGACTAGTGCCAGCTTCCCTGCCACCCATTTACTCAATCCCAGGACTGAGCTCTAGGCTCCCTGGGCCCTGAGTTCAAAATCCTGACACTTTGAGATAGTCTGAAGCTTGCAATCAAATTCCTTATAAATAATTGCATTCTCGGCCGGATGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATGGTGAAACCC
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CTTCTCAGGGAAGAGGTGGTAGTGACCAAGACAGGCAGGGAAAAAGCAAACTTCTATGTAGTGCCTTTTGTATCTTGGACACTGAGGCATCCGTTCATACCTCATCACCCATCTCCCCCTGCACTCCCCCAGAAAACCTGGAAATGACACAAGTGGCTAACTAAGGACTTTATTTCAAACAAAAATTAAAAATAAAAAATTGAGAGCTCTTTTCCCTGGGTTTGGGGAAGGAGTCAGGGTAGGGAATTCCACATGGCTAGGCCAGTACCCTCAGTACACTGGAGGGCTGTGGGAATTCCCTTCCTTGCCCATGATGGGGAACCTCAGCAAGTGCAGGGCCCACGCAGCGCCCGCCAGCAAGGGGAGCTTGGGCCAGGGGTCGGTCCCTGGGAGGGGTAGGTCCCTGGGAGGGGTAGAGCTGGGCAGCAGCATGGCCAGTGGCCAACCACAGGATCAAGTCCTAAGTACCGAGAACCTACTCTTCCCCACTTCCTGGGCCCCAGAACGGAATAAGAGGATGGCCTGTGGAAAGAACCTCTGAGAGACCCCTACAAGGAGAAGAAAGGCCCCAGTGTCCCTCACATTTGTCACCTCTGTTTTCTGGAGGGCAGTGAGTCCTGGAGTCAGTCTGGTGGTAATACTGACACAGACCAGGAGGGGCAGGGAAGCCCCAACAAGTCTGGACCCCACAGCTGGCTCTCCCACCCCTCAGCAAGCTCTCGCAGTTACCACATGATCCTTCGTGTTTCTTGCCTTCCATTTCCCTTGGGTGGATGGTTGGGTAGGTGGGGTTTCCTGGTTTGGGGTTTCTCAGACAAGGGCCCTCTAGGGAGGGTGCCCTGGACCCCCCACCACTCCTGGGCTGAGGAGCGTGTCACATGATGCCGTTGGTGAGGTACTGGAAGCCGTCATAGAGTTTGGTGGTGATAGACCGCATACTGCCATCCACCATCTGCTCCACCAGCAGCTGCAGCTGCTCCTCAGTCATGCTCATGTGGAACCTCTCTTTGAGGTTTCGAATGGTGCTGGAGCCATGGAAGCAAGGAAGCTGAGAACCTGGGGGAAGCAGTCGGAGTTCAGGGTCATGGATGGACGGGAGGGGCAGTGGTGTCAGCCATAGCAAATACAGAGCTGGGGCATCTGAAGTGCCCTTTTCCTCCCACCTCAGGTCCTTGATGATGTGGGTGCAGTTCTGCTTGGGCAGAGAGAAGGAACCGGCAGGAACCCCTCATCACCCCACGCCTAAGCCCTTCTGTAGGTGAGGGCATGTGGGCAGAGGAAGGAAGGGGACCAACACCACATCTCCCTCAGTAAGGGTGGAGGGGCCCAGAGGGCAGGCTGGGAGGAGGCTGGAGGGAGTGGGCCCTGAGCTGGGCACTTATCTGGTTGCAGACCTCTGCCTATGCTACGTCTGACACTCACAGATGACCTGGGCCACCGTCATCATGGGGCCAGATGGGGATGATCCTGAGCAACGGCGACAACCTGTGGGGTAGGGGCAGGAATGGGGAGGAGGGGGAGACTGGCAGTTCAGACCTGGTATACACCTGGAGCCTTGAGGAGGGGGATGAGGACAGAAGGGGGTCCTGGGCAAAAGACTGTAGATGGCAAGACTGTAGTGGAAGGAGATAATGATGAGAGGGGAAATACTTCTCAGAGCTGAAGGGTGGCAGAGGACAGGGCAATCAGAGGTCATAGTGGAATGGAGAAGACAGATGGAAGGAGACTGAGAAACTCAGAGCTGGACAGGGGTGGGGAGGTGAGAAGGGACCAGGAGGCTGTAAATGGGCCTGTTTTCTCCCTAAAGATGCCAAGGAGGCAGGTGCTGCTATCCCCTTCCCCAGCCTTCTGGACTTAGCCTTACCAGGGTCAGGAGGAATGTCCTAAAGGAGAAACAAGGCACTGGACCAGAGCTAGAAACTCTCTGGGAACCCCCCTCCCTCAACCGAGTCTCGTGGGATCAGCTTTCTTATGCTCCAGGGCTCCGACTTAAAGGGGAAGCCTGAGGCACTATAGCACCTGACCTCACCCCAGCCCCACCTTGCTGCCTGATCTCCACGATCTGCACCACCTTGTCCATGTGTTTCCGAGCGGCAATCAGCCCTTGCAGCATCAGCATCTTATAGTAGTTGAACATGTCGCCATCCAGGCCGCCCATCACCTGGAAAGGGAAGAGAGCGTTGTGTGCACAAGGGGTCTTACACCGGGGATGGTCCCTGTCCTGACTGGCCTACCAGAACTCCTCCTCCTCTTGGGGCCCTGTTATTTCCCCCTTCCTTATTGGGCAGGAAGCTCCCAGGAACTCCTGCCTCACCCCTAATTACTGCCTGTTCTGTTCATCCCTAATTTGCAGGGAGCCCATCAGCTCCCTCTCCCATGACAGAGAAAGAATACAATGACCCCCGAGAGGCACCTCTCCTTCTTGACTCACATCCACAAACTCTGTGGTCAGCTTAAAGGCTGACGTCTCAAAGCCCAGATTTCGGGGTGAGCTGGAGAGGATGAAGCCAAAGTCGATGTGGATGATGTGGCCTTCTGCGTCCAAAAGGATATTCCCATTGTGTCTGAGGAGGGGGAATAGAGGAGAGGAAGAGGCAGTAGTCAGTCTGACTGAGGCTGGAACCTTAAGCAGCAATACACTGGCCACATGACACCAGGGAGGGGGGTCCCCTGCCATGTTTCCTGCTGCCCGTAACTCCAATCTCCTGTCCAGTTTCCTAGGACCTAAAGCTATCAGTGGAAAGAAAGGAAATCAGAAAACTGCTAACAAAGGCTATGGGGTCTGAAATTGCTATTAATAATTTAATAAAAATAGTTTAAGATTCTCCCAATTTCCCAGAAATTGCACTTCTGGCACCCAAACTATCCCAATCTAGTAGAGAATCCAGAAGCAAGGAAAGAGGGCCTCTGAGGCTCCAGCCAGCTGTCACAGAGGCCAAGCGCTCTACTCAGGGGAGGCTCTATTCTGAGCCTGTTTACCTGTGGGTTATTTGTAACTCCTGTCAGCCCACTGCAGATCAGAGGCCTCACTGGAAGGGAACAACAACAGAAGCAAGCAGGCTGAGTGGAGCTGAAATGTAAAATAGCGTGGGGGCTTCAAGGGGTAAGTTTTAAATCACTTACTTAAAAAGTCTCAGGATGAGGCAGTACTACAGGGCAGCTGTAGAAGAGTTAAAGGGAGATAAATCCCAGGTCTTTGTGATTCCCACATGAATGGCCAGTAGCAGAAGGAACAATTAACATGCTAAGCATGTGAGGCCTGGCCTATTCAGCATAACTGGCCTACTCAGTGTCAATAGAGGCTTTGTTAGGCTAAGAGCTGATGGTCTGAGGGCCACCTTCTCTGGGGTTGGTTTGGCCAAAAGAGGAGGGACAAAAGGAGAACCTAGTCCAACCTGAGTTCTTCCCCACTCAGGGAAAACACTAAAGATTTAGCAATCCAGGCACAATCTTGTGAGCCAGAATGGTTCTAGGAGTTGTCATGGTTCAACCTCACATTTTACAGGTGAAGAAAACAGAGGCCCTGAGAGAGGAAGTGATTTACTTGCCCAAGGTGCCATAGCCTCTCTTTTCACTACCAGAGTTAGCTCCAGCTGGAAAGCTGCTTAGGACTACTTTTGAAGCAGTTAAAGAGATCCTAAAACCTGACTCCAGTATGGGGCCTCATTCATTGTTGCCACTTCTTTCCATTGGTTGATTCCATTCATGGCTCGACTATATCTATTCTTTTTTGAGGTACTATGAACGGCTTATCAGCTACCTGCCCTCCTCTATCCCTTCTTTTTTAGAGGATGGACTCTCATCTTCCAAACATACTAATTCCCTAAAGGAAAGCCCTGGGGCCTGACTAGTGCCAGCTTCCCTGCCACCCATTTACTCAATCCCAGGACTGAGCTCTAGGCTCCCTGGGCCCTGAGTTCAAAATCCTGACACTTTGAGATAGTCTGAAGCTTGCAATCAAATTCCTTATAAATAATTGCATTCTCGGCCGGATGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATGGTGAAACCC
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Task1_train_1549
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This variant impacts the gene PI4KB (phosphatidylinositol 4-kinase beta) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Hearing loss, autosomal dominant 87
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ACTTCCTGGGCCCCAGAACGGAATAAGAGGATGGCCTGTGGAAAGAACCTCTGAGAGACCCCTACAAGGAGAAGAAAGGCCCCAGTGTCCCTCACATTTGTCACCTCTGTTTTCTGGAGGGCAGTGAGTCCTGGAGTCAGTCTGGTGGTAATACTGACACAGACCAGGAGGGGCAGGGAAGCCCCAACAAGTCTGGACCCCACAGCTGGCTCTCCCACCCCTCAGCAAGCTCTCGCAGTTACCACATGATCCTTCGTGTTTCTTGCCTTCCATTTCCCTTGGGTGGATGGTTGGGTAGGTGGGGTTTCCTGGTTTGGGGTTTCTCAGACAAGGGCCCTCTAGGGAGGGTGCCCTGGACCCCCCACCACTCCTGGGCTGAGGAGCGTGTCACATGATGCCGTTGGTGAGGTACTGGAAGCCGTCATAGAGTTTGGTGGTGATAGACCGCATACTGCCATCCACCATCTGCTCCACCAGCAGCTGCAGCTGCTCCTCAGTCATGCTCATGTGGAACCTCTCTTTGAGGTTTCGAATGGTGCTGGAGCCATGGAAGCAAGGAAGCTGAGAACCTGGGGGAAGCAGTCGGAGTTCAGGGTCATGGATGGACGGGAGGGGCAGTGGTGTCAGCCATAGCAAATACAGAGCTGGGGCATCTGAAGTGCCCTTTTCCTCCCACCTCAGGTCCTTGATGATGTGGGTGCAGTTCTGCTTGGGCAGAGAGAAGGAACCGGCAGGAACCCCTCATCACCCCACGCCTAAGCCCTTCTGTAGGTGAGGGCATGTGGGCAGAGGAAGGAAGGGGACCAACACCACATCTCCCTCAGTAAGGGTGGAGGGGCCCAGAGGGCAGGCTGGGAGGAGGCTGGAGGGAGTGGGCCCTGAGCTGGGCACTTATCTGGTTGCAGACCTCTGCCTATGCTACGTCTGACACTCACAGATGACCTGGGCCACCGTCATCATGGGGCCAGATGGGGATGATCCTGAGCAACGGCGACAACCTGTGGGGTAGGGGCAGGAATGGGGAGGAGGGGGAGACTGGCAGTTCAGACCTGGTATACACCTGGAGCCTTGAGGAGGGGGATGAGGACAGAAGGGGGTCCTGGGCAAAAGACTGTAGATGGCAAGACTGTAGTGGAAGGAGATAATGATGAGAGGGGAAATACTTCTCAGAGCTGAAGGGTGGCAGAGGACAGGGCAATCAGAGGTCATAGTGGAATGGAGAAGACAGATGGAAGGAGACTGAGAAACTCAGAGCTGGACAGGGGTGGGGAGGTGAGAAGGGACCAGGAGGCTGTAAATGGGCCTGTTTTCTCCCTAAAGATGCCAAGGAGGCAGGTGCTGCTATCCCCTTCCCCAGCCTTCTGGACTTAGCCTTACCAGGGTCAGGAGGAATGTCCTAAAGGAGAAACAAGGCACTGGACCAGAGCTAGAAACTCTCTGGGAACCCCCCTCCCTCAACCGAGTCTCGTGGGATCAGCTTTCTTATGCTCCAGGGCTCCGACTTAAAGGGGAAGCCTGAGGCACTATAGCACCTGACCTCACCCCAGCCCCACCTTGCTGCATGATCTCCACGATCTGCACCACCTTGTCCATGTGTTTCCGAGCGGCAATCAGCCCTTGCAGCATCAGCATCTTATAGTAGTTGAACATGTCGCCATCCAGGCCGCCCATCACCTGGAAAGGGAAGAGAGCGTTGTGTGCACAAGGGGTCTTACACCGGGGATGGTCCCTGTCCTGACTGGCCTACCAGAACTCCTCCTCCTCTTGGGGCCCTGTTATTTCCCCCTTCCTTATTGGGCAGGAAGCTCCCAGGAACTCCTGCCTCACCCCTAATTACTGCCTGTTCTGTTCATCCCTAATTTGCAGGGAGCCCATCAGCTCCCTCTCCCATGACAGAGAAAGAATACAATGACCCCCGAGAGGCACCTCTCCTTCTTGACTCACATCCACAAACTCTGTGGTCAGCTTAAAGGCTGACGTCTCAAAGCCCAGATTTCGGGGTGAGCTGGAGAGGATGAAGCCAAAGTCGATGTGGATGATGTGGCCTTCTGCGTCCAAAAGGATATTCCCATTGTGTCTGAGGAGGGGGAATAGAGGAGAGGAAGAGGCAGTAGTCAGTCTGACTGAGGCTGGAACCTTAAGCAGCAATACACTGGCCACATGACACCAGGGAGGGGGGTCCCCTGCCATGTTTCCTGCTGCCCGTAACTCCAATCTCCTGTCCAGTTTCCTAGGACCTAAAGCTATCAGTGGAAAGAAAGGAAATCAGAAAACTGCTAACAAAGGCTATGGGGTCTGAAATTGCTATTAATAATTTAATAAAAATAGTTTAAGATTCTCCCAATTTCCCAGAAATTGCACTTCTGGCACCCAAACTATCCCAATCTAGTAGAGAATCCAGAAGCAAGGAAAGAGGGCCTCTGAGGCTCCAGCCAGCTGTCACAGAGGCCAAGCGCTCTACTCAGGGGAGGCTCTATTCTGAGCCTGTTTACCTGTGGGTTATTTGTAACTCCTGTCAGCCCACTGCAGATCAGAGGCCTCACTGGAAGGGAACAACAACAGAAGCAAGCAGGCTGAGTGGAGCTGAAATGTAAAATAGCGTGGGGGCTTCAAGGGGTAAGTTTTAAATCACTTACTTAAAAAGTCTCAGGATGAGGCAGTACTACAGGGCAGCTGTAGAAGAGTTAAAGGGAGATAAATCCCAGGTCTTTGTGATTCCCACATGAATGGCCAGTAGCAGAAGGAACAATTAACATGCTAAGCATGTGAGGCCTGGCCTATTCAGCATAACTGGCCTACTCAGTGTCAATAGAGGCTTTGTTAGGCTAAGAGCTGATGGTCTGAGGGCCACCTTCTCTGGGGTTGGTTTGGCCAAAAGAGGAGGGACAAAAGGAGAACCTAGTCCAACCTGAGTTCTTCCCCACTCAGGGAAAACACTAAAGATTTAGCAATCCAGGCACAATCTTGTGAGCCAGAATGGTTCTAGGAGTTGTCATGGTTCAACCTCACATTTTACAGGTGAAGAAAACAGAGGCCCTGAGAGAGGAAGTGATTTACTTGCCCAAGGTGCCATAGCCTCTCTTTTCACTACCAGAGTTAGCTCCAGCTGGAAAGCTGCTTAGGACTACTTTTGAAGCAGTTAAAGAGATCCTAAAACCTGACTCCAGTATGGGGCCTCATTCATTGTTGCCACTTCTTTCCATTGGTTGATTCCATTCATGGCTCGACTATATCTATTCTTTTTTGAGGTACTATGAACGGCTTATCAGCTACCTGCCCTCCTCTATCCCTTCTTTTTTAGAGGATGGACTCTCATCTTCCAAACATACTAATTCCCTAAAGGAAAGCCCTGGGGCCTGACTAGTGCCAGCTTCCCTGCCACCCATTTACTCAATCCCAGGACTGAGCTCTAGGCTCCCTGGGCCCTGAGTTCAAAATCCTGACACTTTGAGATAGTCTGAAGCTTGCAATCAAATTCCTTATAAATAATTGCATTCTCGGCCGGATGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGTGGGAGAATCACTTGAACTCTGGGAGGCAGAGGTTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCACACACACACACAAAAATATTACATTCTCCTACAGCTCTCAAATGCAGAGCCTGGGTCCATTTGTAGGGCTGGCAGGGTGGAATGAGCGCAGGGTGGAATGAGCACAGGGTCTAAAAGCTACCTGACTGTTATTTCCCTCATGAGGAAACACGTGTCTGACAGGGTTTTCATCTGGTTTAAATATAAGAATGTCAGGCCATGGCAGAACTTAATAGATGCTAGATTTCTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGTGTGCAATGGTGCGATCTTGGCTCACTGCAACTTCTGCCT
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ACTTCCTGGGCCCCAGAACGGAATAAGAGGATGGCCTGTGGAAAGAACCTCTGAGAGACCCCTACAAGGAGAAGAAAGGCCCCAGTGTCCCTCACATTTGTCACCTCTGTTTTCTGGAGGGCAGTGAGTCCTGGAGTCAGTCTGGTGGTAATACTGACACAGACCAGGAGGGGCAGGGAAGCCCCAACAAGTCTGGACCCCACAGCTGGCTCTCCCACCCCTCAGCAAGCTCTCGCAGTTACCACATGATCCTTCGTGTTTCTTGCCTTCCATTTCCCTTGGGTGGATGGTTGGGTAGGTGGGGTTTCCTGGTTTGGGGTTTCTCAGACAAGGGCCCTCTAGGGAGGGTGCCCTGGACCCCCCACCACTCCTGGGCTGAGGAGCGTGTCACATGATGCCGTTGGTGAGGTACTGGAAGCCGTCATAGAGTTTGGTGGTGATAGACCGCATACTGCCATCCACCATCTGCTCCACCAGCAGCTGCAGCTGCTCCTCAGTCATGCTCATGTGGAACCTCTCTTTGAGGTTTCGAATGGTGCTGGAGCCATGGAAGCAAGGAAGCTGAGAACCTGGGGGAAGCAGTCGGAGTTCAGGGTCATGGATGGACGGGAGGGGCAGTGGTGTCAGCCATAGCAAATACAGAGCTGGGGCATCTGAAGTGCCCTTTTCCTCCCACCTCAGGTCCTTGATGATGTGGGTGCAGTTCTGCTTGGGCAGAGAGAAGGAACCGGCAGGAACCCCTCATCACCCCACGCCTAAGCCCTTCTGTAGGTGAGGGCATGTGGGCAGAGGAAGGAAGGGGACCAACACCACATCTCCCTCAGTAAGGGTGGAGGGGCCCAGAGGGCAGGCTGGGAGGAGGCTGGAGGGAGTGGGCCCTGAGCTGGGCACTTATCTGGTTGCAGACCTCTGCCTATGCTACGTCTGACACTCACAGATGACCTGGGCCACCGTCATCATGGGGCCAGATGGGGATGATCCTGAGCAACGGCGACAACCTGTGGGGTAGGGGCAGGAATGGGGAGGAGGGGGAGACTGGCAGTTCAGACCTGGTATACACCTGGAGCCTTGAGGAGGGGGATGAGGACAGAAGGGGGTCCTGGGCAAAAGACTGTAGATGGCAAGACTGTAGTGGAAGGAGATAATGATGAGAGGGGAAATACTTCTCAGAGCTGAAGGGTGGCAGAGGACAGGGCAATCAGAGGTCATAGTGGAATGGAGAAGACAGATGGAAGGAGACTGAGAAACTCAGAGCTGGACAGGGGTGGGGAGGTGAGAAGGGACCAGGAGGCTGTAAATGGGCCTGTTTTCTCCCTAAAGATGCCAAGGAGGCAGGTGCTGCTATCCCCTTCCCCAGCCTTCTGGACTTAGCCTTACCAGGGTCAGGAGGAATGTCCTAAAGGAGAAACAAGGCACTGGACCAGAGCTAGAAACTCTCTGGGAACCCCCCTCCCTCAACCGAGTCTCGTGGGATCAGCTTTCTTATGCTCCAGGGCTCCGACTTAAAGGGGAAGCCTGAGGCACTATAGCACCTGACCTCACCCCAGCCCCACCTTGCTGCATGATCTCCACGATCTGCACCACCTTGTCCATGTGTTTCCGAGCGGCAATCAGCCCTTGCAGCATCAGCATCTTATAGTAGTTGAACATGTCGCCATCCAGGCCGCCCATCACCTGGAAAGGGAAGAGAGCGTTGTGTGCACAAGGGGTCTTACACCGGGGATGGTCCCTGTCCTGACTGGCCTACCAGAACTCCTCCTCCTCTTGGGGCCCTGTTATTTCCCCCTTCCTTATTGGGCAGGAAGCTCCCAGGAACTCCTGCCTCACCCCTAATTACTGCCTGTTCTGTTCATCCCTAATTTGCAGGGAGCCCATCAGCTCCCTCTCCCATGACAGAGAAAGAATACAATGACCCCCGAGAGGCACCTCTCCTTCTTGACTCACATCCACAAACTCTGTGGTCAGCTTAAAGGCTGACGTCTCAAAGCCCAGATTTCGGGGTGAGCTGGAGAGGATGAAGCCAAAGTCGATGTGGATGATGTGGCCTTTTGCGTCCAAAAGGATATTCCCATTGTGTCTGAGGAGGGGGAATAGAGGAGAGGAAGAGGCAGTAGTCAGTCTGACTGAGGCTGGAACCTTAAGCAGCAATACACTGGCCACATGACACCAGGGAGGGGGGTCCCCTGCCATGTTTCCTGCTGCCCGTAACTCCAATCTCCTGTCCAGTTTCCTAGGACCTAAAGCTATCAGTGGAAAGAAAGGAAATCAGAAAACTGCTAACAAAGGCTATGGGGTCTGAAATTGCTATTAATAATTTAATAAAAATAGTTTAAGATTCTCCCAATTTCCCAGAAATTGCACTTCTGGCACCCAAACTATCCCAATCTAGTAGAGAATCCAGAAGCAAGGAAAGAGGGCCTCTGAGGCTCCAGCCAGCTGTCACAGAGGCCAAGCGCTCTACTCAGGGGAGGCTCTATTCTGAGCCTGTTTACCTGTGGGTTATTTGTAACTCCTGTCAGCCCACTGCAGATCAGAGGCCTCACTGGAAGGGAACAACAACAGAAGCAAGCAGGCTGAGTGGAGCTGAAATGTAAAATAGCGTGGGGGCTTCAAGGGGTAAGTTTTAAATCACTTACTTAAAAAGTCTCAGGATGAGGCAGTACTACAGGGCAGCTGTAGAAGAGTTAAAGGGAGATAAATCCCAGGTCTTTGTGATTCCCACATGAATGGCCAGTAGCAGAAGGAACAATTAACATGCTAAGCATGTGAGGCCTGGCCTATTCAGCATAACTGGCCTACTCAGTGTCAATAGAGGCTTTGTTAGGCTAAGAGCTGATGGTCTGAGGGCCACCTTCTCTGGGGTTGGTTTGGCCAAAAGAGGAGGGACAAAAGGAGAACCTAGTCCAACCTGAGTTCTTCCCCACTCAGGGAAAACACTAAAGATTTAGCAATCCAGGCACAATCTTGTGAGCCAGAATGGTTCTAGGAGTTGTCATGGTTCAACCTCACATTTTACAGGTGAAGAAAACAGAGGCCCTGAGAGAGGAAGTGATTTACTTGCCCAAGGTGCCATAGCCTCTCTTTTCACTACCAGAGTTAGCTCCAGCTGGAAAGCTGCTTAGGACTACTTTTGAAGCAGTTAAAGAGATCCTAAAACCTGACTCCAGTATGGGGCCTCATTCATTGTTGCCACTTCTTTCCATTGGTTGATTCCATTCATGGCTCGACTATATCTATTCTTTTTTGAGGTACTATGAACGGCTTATCAGCTACCTGCCCTCCTCTATCCCTTCTTTTTTAGAGGATGGACTCTCATCTTCCAAACATACTAATTCCCTAAAGGAAAGCCCTGGGGCCTGACTAGTGCCAGCTTCCCTGCCACCCATTTACTCAATCCCAGGACTGAGCTCTAGGCTCCCTGGGCCCTGAGTTCAAAATCCTGACACTTTGAGATAGTCTGAAGCTTGCAATCAAATTCCTTATAAATAATTGCATTCTCGGCCGGATGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTAATCAGGAGGCTGAGGTGGGAGAATCACTTGAACTCTGGGAGGCAGAGGTTACAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACAACAGAGCAAGACTCTGTCTCACACACACACACAAAAATATTACATTCTCCTACAGCTCTCAAATGCAGAGCCTGGGTCCATTTGTAGGGCTGGCAGGGTGGAATGAGCGCAGGGTGGAATGAGCACAGGGTCTAAAAGCTACCTGACTGTTATTTCCCTCATGAGGAAACACGTGTCTGACAGGGTTTTCATCTGGTTTAAATATAAGAATGTCAGGCCATGGCAGAACTTAATAGATGCTAGATTTCTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGTGTGCAATGGTGCGATCTTGGCTCACTGCAACTTCTGCCT
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Task1_train_1550
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The variant affects gene PI4KB (phosphatidylinositol 4-kinase beta), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Hearing loss, autosomal dominant 87
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CCCCAAGGCCCATGTCAAGTCTCTTCTGTCCTTCATACCAGAGCATTTCTTCTCAACTCCATTTGTCACCTAGTACACACTGCTTTGTTGTATATCTAAATTTTTTTTTCTTAAATGTCTAATTTCTGCAATTGGACTATAAGCTCAAAGACAGAGATTCTGCCTTTTGGCAAAGTGAAACCTGGCTGTGTGTTTTTTTTTTTTTTTTTTAGACGGAGTTTCGCTCTTGTTGCCCACGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCGACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCGCGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGGAACGGGGTTTCACCATGTTAGTCAGGCTGTTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCGAAGTGCTGGGATTGCAGGCGTGAGCCACCGCGCCTGGCCCTGGCTGTGTTTTTGTTTTGTTTTGTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGCTGTGATCTCAGCTCCCTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTTGTGCTTCAAGAATCACTTGCCTCCCGAGTAGCTGGGATTACAGGCATGTTCCACCACACCTGGCTTTTTTTTTTTTTTCTTTTGAGACGGAATTTTGCTTGTCACCCAGGCTGAAGTGCAGTGGCGTGATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCGAATAATTCTACTGCCTCAGCCTCCCGATTAGCTGGGATTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCTCGCCCTGTCCTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACCGCACCCGGCATAATTTTTCTAGTTTTAGTGGAGATGGAGTTTCACCTTGTTGGCCAGGCTGGTCTCGAAATCCTGACTTCAAGCGATCCACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCAGCTGTGTTAATAGCTCTACACAAAATTCTGCTCTGGCTCTTCATGCCCCAGAATAAAGTTCAAGTTTCTTTCCCCAGCTTACAGGGTCCTTCCTATAGTCTGGTCCATGCCCACGTGTCCAGTCTTATTCTTCACCACTTCTTACCTCACACCTGCACATCACAGCCAGGCAAAATTTCTTTCAATTCCTATAATGGCCCAAGCTCCCTCTTGTCTTCTGGCCTTTGCATGCAGTGTTCCCTCTGTCCAGCACTCTTTGTCCAGCTAATTCCTACCCATGCTTCCAGCCTCAGCTGAGAGATTACTTCCTCCAGGAAATCTCTTGTGATGCCCGCCCCAAGTCTGGTGCTCTTATAATGTCCTATCCTTTCCCCCATGACTTGACTCTCACCACACTACAACTACTTGCTTACTGGCCTTGTTCTCTTTCCAGTTAGGTCATAAATCCCTTGTAGGCAGGGGCCAAGTCTTGTTCACTAGCATACAGCACTCAGGTCTGGCACATAGAAGGCCCTCAATAAAAATTTCTTGAATGAATTAATGTATGACTTCTCATCCTCTGCTATTCTATGACAACTTTATGTAGGTGTTCAATAAATATTTTCATTAAATTTCCCTCACTCCCCTTGGCCTAGAAGCTCCTCTTTACATTTAAATCTGAATCCTTCACCTGGAAAATGAACTCCACCTGAATCTATTCCAGGCTAGAGTTGTTCAGAGCTTTCCCCATATTACCCCTCACTACCTACACCACTCATTAGGATACTTGCCTTACCCTGCCTTGGGATATGCTGTCTTGTTTCCAATATAGTGAAAGCTCCTGGAGAAAGCTCCTGTGACCCAGCATTACCTCCCTGAAGCCCTCTCACCTCCACTTGCAGCTCGCCTATGTCATCCACCGACCAGGCCTCATCATCGTTGTCATAGTTGGGCACAGTGCTGAAGCTGCCAGCTCGCTGCTCATGGGTAATACCACATTCGGGCAAGTTTTCTACGGACCTCGTACTCCGAATTCGGTTCTCGGGGATCCGGGCAGGGACACTGGTGGTGTCAAAGTTTTCACATTCAAGGACTTCCACATAAATCAGGTAGGGAGCCTGGGGGAAGAGTGAGACAGTATTTGCAACTTACTTCCACCACTAACCCCCAAATCTCAACTCTGTTAGCAAGGTTCTTCCTGCTGTCCTTTCTCCTAGCTCCAGCCTTCATCCAATAGTCCTCTGAAACTATGAACACTATATTTAGGGCAGATACTTGTCCTATGATCACCTATGTAAAGAATTTGTGTGACAGAATCCTTAAGTCTTCAAAATATTTCAACTGAGCTCCAAAATGTACAGATGATGTGCTTGGGCCAAACCACTCTAGACTATCAATTACAGGCTGTAAGGGAGGCCTAGATGCCTCTGTGGGCTCGTCCTGAAGACAGGGCCCAGGGAGCTACAGTGGACAAAAAGACTGGGACAAAGCTGGGCACTGTCCCAAGGAGTGTCCCAAACTTCAGTATTTCCTTTGAAAGAAGAATATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGGGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGCGAAACCCCGTCGCTACTAAAACTACAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGTTGCGGAGGTTGCAGTAAGCCAAGATTGTGCCACTGCACTCCAGCCTCCGCAATAGAGTGAGACTCCATCTCAAAAAAAAAAGAAGAATCTGAACCATGAATACTCATTCCAGTCAGCACACAAATTCAGCTAATTCTCTCCAGTGTGAATTGGGCATCCTTCTCTCCTTTTGTCGGCTCATTCTGATCAGAAAAGGTCTTAGAAACAAAATATTTCTCTATCCTTATGGTTGCTGTATCTGGAAAGCCCAAGAGTTATAGAAAGGCTGGAGAAAAGCTACCAAAATGACCATAAGGTGGGGTGAAGAGCAATTCTCCTAAGATACAGCAAGAAGGAAGCTAAAAAGATTAGGTTTCTTTGGTCCAGAAAAACAAAGCCCAAAAAGGGATACAGGGGGGCTCTCAAAATCACAATCGCACTGAGACAGAGTCATGGTTGACATATGCATCATGAACTATGAAGGGAGTCTAGGATGTTGGTGAGGGCCTCACTGGTCATACACGCAAACTCTGAACAACCATGGGTGAAGAGTCACGTCCAGGGTAGGGGTTTGGGCCAGAACCCATCTACCTTGTCCTTGGAGTTGAGGACAACAGCCTGTGTGTGGGGTACACGGACCACGTGGTGGTCAAAGCCAGCAGTGGGCAGCCAGACTCGGGCAGGGAGCTTATGGTTGAGCAGGGAGAGCTCTGAGATCAGCCTCTGTGTTTTCTGCTCTTTGGTGGGGAGCGTGGCCAGCCGCTTGCCGATCGCCATCAGGGACTTGATGAATTCTCTCTCAGGAGCCAGTCGAACAGGCTACAGGGGTTTGGGGTAAGACAAAAGATGGTGAAGAAACCATAGAATACAATGGCACACCCACTCAGTCACTCCTGGCCATGCAGGCCGGGGACCCCACTATCTGGAGAACTCCAGGAAAGCAGCTGCTTTTTAGTCTTAGTAGGAGCTTCCACCCACCCTTCACAACTTGAATTGAGAATAGCCAGCACATTCCTTCCCTATAGGCTATCCCTTGAGGGTAAGGGAGGCCATGAGTCCAGGTAACTGGGATGCACTCCTCTTCTCCTGGACTTGGGTTCCTTAAGGACTGTACCAAGGCTTCAGAGTGAGCAGGGGGACATCTGGATAGGTTAGCCAGGGCCACAGAGAGAAGAGCTGCTTACACCTGAATTGTTTCACCCTTTTCAAGAACAGGGTTGTCCTTCTCCCCATCTGGATCCTTGGGCTAGATCTCTGCCGAGGGG
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CCCCAAGGCCCATGTCAAGTCTCTTCTGTCCTTCATACCAGAGCATTTCTTCTCAACTCCATTTGTCACCTAGTACACACTGCTTTGTTGTATATCTAAATTTTTTTTTCTTAAATGTCTAATTTCTGCAATTGGACTATAAGCTCAAAGACAGAGATTCTGCCTTTTGGCAAAGTGAAACCTGGCTGTGTGTTTTTTTTTTTTTTTTTTAGACGGAGTTTCGCTCTTGTTGCCCACGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCGACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCGCGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGGAACGGGGTTTCACCATGTTAGTCAGGCTGTTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCGAAGTGCTGGGATTGCAGGCGTGAGCCACCGCGCCTGGCCCTGGCTGTGTTTTTGTTTTGTTTTGTTTTAAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGCTGTGATCTCAGCTCCCTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTTGTGCTTCAAGAATCACTTGCCTCCCGAGTAGCTGGGATTACAGGCATGTTCCACCACACCTGGCTTTTTTTTTTTTTTCTTTTGAGACGGAATTTTGCTTGTCACCCAGGCTGAAGTGCAGTGGCGTGATCTTGGTTCACTGCAACCTCCGCCTCCTGGGTTCGAATAATTCTACTGCCTCAGCCTCCCGATTAGCTGGGATTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCTCGCCCTGTCCTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACCGCACCCGGCATAATTTTTCTAGTTTTAGTGGAGATGGAGTTTCACCTTGTTGGCCAGGCTGGTCTCGAAATCCTGACTTCAAGCGATCCACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCAGCTGTGTTAATAGCTCTACACAAAATTCTGCTCTGGCTCTTCATGCCCCAGAATAAAGTTCAAGTTTCTTTCCCCAGCTTACAGGGTCCTTCCTATAGTCTGGTCCATGCCCACGTGTCCAGTCTTATTCTTCACCACTTCTTACCTCACACCTGCACATCACAGCCAGGCAAAATTTCTTTCAATTCCTATAATGGCCCAAGCTCCCTCTTGTCTTCTGGCCTTTGCATGCAGTGTTCCCTCTGTCCAGCACTCTTTGTCCAGCTAATTCCTACCCATGCTTCCAGCCTCAGCTGAGAGATTACTTCCTCCAGGAAATCTCTTGTGATGCCCGCCCCAAGTCTGGTGCTCTTATAATGTCCTATCCTTTCCCCCATGACTTGACTCTCACCACACTACAACTACTTGCTTACTGGCCTTGTTCTCTTTCCAGTTAGGTCATAAATCCCTTGTAGGCAGGGGCCAAGTCTTGTTCACTAGCATACAGCACTCAGGTCTGGCACATAGAAGGCCCTCAATAAAAATTTCTTGAATGAATTAATGTATGACTTCTCATCCTCTGCTATTCTATGACAACTTTATGTAGGTGTTCAATAAATATTTTCATTAAATTTCCCTCACTCCCCTTGGCCTAGAAGCTCCTCTTTACATTTAAATCTGAATCCTTCACCTGGAAAATGAACTCCACCTGAATCTATTCCAGGCTAGAGTTGTTCAGAGCTTTCCCCATATTACCCCTCACTACCTACACCACTCATTAGGATACTTGCCTTACCCTGCCTTGGGATATGCTGTCTTGTTTCCAATATAGTGAAAGCTCCTGGAGAAAGCTCCTGTGACCCAGCATTACCTCCCTGAAGCCCTCTCACCTCCACTTGCAGCTCGCCTATGTCATCCACCGACCAGGCCTCATCATCGTTGTCATAGTTGGGCCCAGTGCTGAAGCTGCCAGCTCGCTGCTCATGGGTAATACCACATTCGGGCAAGTTTTCTACGGACCTCGTACTCCGAATTCGGTTCTCGGGGATCCGGGCAGGGACACTGGTGGTGTCAAAGTTTTCACATTCAAGGACTTCCACATAAATCAGGTAGGGAGCCTGGGGGAAGAGTGAGACAGTATTTGCAACTTACTTCCACCACTAACCCCCAAATCTCAACTCTGTTAGCAAGGTTCTTCCTGCTGTCCTTTCTCCTAGCTCCAGCCTTCATCCAATAGTCCTCTGAAACTATGAACACTATATTTAGGGCAGATACTTGTCCTATGATCACCTATGTAAAGAATTTGTGTGACAGAATCCTTAAGTCTTCAAAATATTTCAACTGAGCTCCAAAATGTACAGATGATGTGCTTGGGCCAAACCACTCTAGACTATCAATTACAGGCTGTAAGGGAGGCCTAGATGCCTCTGTGGGCTCGTCCTGAAGACAGGGCCCAGGGAGCTACAGTGGACAAAAAGACTGGGACAAAGCTGGGCACTGTCCCAAGGAGTGTCCCAAACTTCAGTATTTCCTTTGAAAGAAGAATATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGGGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGCGAAACCCCGTCGCTACTAAAACTACAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGTTGCGGAGGTTGCAGTAAGCCAAGATTGTGCCACTGCACTCCAGCCTCCGCAATAGAGTGAGACTCCATCTCAAAAAAAAAAGAAGAATCTGAACCATGAATACTCATTCCAGTCAGCACACAAATTCAGCTAATTCTCTCCAGTGTGAATTGGGCATCCTTCTCTCCTTTTGTCGGCTCATTCTGATCAGAAAAGGTCTTAGAAACAAAATATTTCTCTATCCTTATGGTTGCTGTATCTGGAAAGCCCAAGAGTTATAGAAAGGCTGGAGAAAAGCTACCAAAATGACCATAAGGTGGGGTGAAGAGCAATTCTCCTAAGATACAGCAAGAAGGAAGCTAAAAAGATTAGGTTTCTTTGGTCCAGAAAAACAAAGCCCAAAAAGGGATACAGGGGGGCTCTCAAAATCACAATCGCACTGAGACAGAGTCATGGTTGACATATGCATCATGAACTATGAAGGGAGTCTAGGATGTTGGTGAGGGCCTCACTGGTCATACACGCAAACTCTGAACAACCATGGGTGAAGAGTCACGTCCAGGGTAGGGGTTTGGGCCAGAACCCATCTACCTTGTCCTTGGAGTTGAGGACAACAGCCTGTGTGTGGGGTACACGGACCACGTGGTGGTCAAAGCCAGCAGTGGGCAGCCAGACTCGGGCAGGGAGCTTATGGTTGAGCAGGGAGAGCTCTGAGATCAGCCTCTGTGTTTTCTGCTCTTTGGTGGGGAGCGTGGCCAGCCGCTTGCCGATCGCCATCAGGGACTTGATGAATTCTCTCTCAGGAGCCAGTCGAACAGGCTACAGGGGTTTGGGGTAAGACAAAAGATGGTGAAGAAACCATAGAATACAATGGCACACCCACTCAGTCACTCCTGGCCATGCAGGCCGGGGACCCCACTATCTGGAGAACTCCAGGAAAGCAGCTGCTTTTTAGTCTTAGTAGGAGCTTCCACCCACCCTTCACAACTTGAATTGAGAATAGCCAGCACATTCCTTCCCTATAGGCTATCCCTTGAGGGTAAGGGAGGCCATGAGTCCAGGTAACTGGGATGCACTCCTCTTCTCCTGGACTTGGGTTCCTTAAGGACTGTACCAAGGCTTCAGAGTGAGCAGGGGGACATCTGGATAGGTTAGCCAGGGCCACAGAGAGAAGAGCTGCTTACACCTGAATTGTTTCACCCTTTTCAAGAACAGGGTTGTCCTTCTCCCCATCTGGATCCTTGGGCTAGATCTCTGCCGAGGGG
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Task1_train_1551
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This variant affects the gene PI4KB (phosphatidylinositol 4-kinase beta) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Hearing loss, autosomal dominant 87
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CCATTATTAAACTATCCTAACAAAATTCCAAATTTCCAGAGAGCAGGCTCTATAGTCTCCCTCCCTCTTCCTTTTCTCTAGTCACTCTGACTTCCCTCTATTTGAAAGAAGTCCCATTGTATCAAAAACGTGGGTGGGTTATATGCCCCACAGAGGCAGATGCCAAGACCATAGCTATCCGCATTTTTCAAAAAGTGCAAATTCCTCCTTTTTTTCTCCCTCTTTTCTAGGCTGGGTTGGAAGCCAGGATGGGAGCCTGGCCAATGGTGAGTCAGAGGGGAGGACTGGAGCACCATTGTCTGGCTGGGACACCAGGTCACTGACACTTGGTAGTCCACTGGGCAGCTTTCCCTGCTATCTGTCCAGATGTGGAGTGAAGAGTGGGTATAACCTATTCATGTGGCCACCTCTTCCCTGCTCTATATCCTAAGTTATACCTCCAACTGCTGCTGTAGCTTCCTCTTCTTCCCAGCCTCCAGGTCCTTGACTAGGCACTATATTTACTCTATACTAAGAGTGCTTTCTCTTCCCTTTGTGCTTCTCCCAAATGGTATGGGAAAGATACCAGCAAGGCACTCTTCCCCCTAAGGAAAGGCAGGCAATGAAGGCATTCTCCAGATGCCTCAGTGATAAGAAATAAACCTTACACTTATGTCAACAAAAGGTAGGATCTTCAGAGGGTAGTGAAAAGGGATTAGATTATGAGGAGGAGTGGCCAGGAGAATGAAGCCGATGTTCTAACATCTCCCCTACCCCAGCACACAGAAAGACAATAGTACCTTTTCCTTTCCCACAGATGCTGCTCTGAGAGGCTCTGGTAGCTATCTCAAGTCTCAGGTCAGGGTGTGGAGGGCTTCTGCCACAGTTCTCATTAACATAGTAGATGTTAATGGAATGGCAGTTTATTTATTTATTTATTTATTTAGAGACGGAGTCTCACTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCGATCTCTGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCTGGCCAGTGCAGTTTAATAAAAATGATTTGGGACACAGTCAGGAGCGTCAGCCTTGCCATGACCTATATGACCTGAGGCAACTCACTTTATCTCTCTGGGTCTGAGTTCTTCCTTTGTAAACTAAGGCAGGCAAAATACATGAATTCTAAGGCCTTTCCATTCTAACATTCCATGCTTTTATCAGTGAAATGAAACAGGGAGGACAGAAAGAACAGCGTAACCCTGTGTGTATATAGGAGGCATCCTGTCTCCATGCAGCCCTCTACCACCTTTTGTCTCTGGCCCTCCCCAGAATTTTACCTCATCCTCATTCTCCACTTTAGGGTTGCTGGCTGTTCGTTTCAGGTTGCTGCTGAGACTTATGCTGGCAGTGGCATCTGACTTAGAGCGCTGGTGAGTCCTTTTGGAGGGAGACAGCCCTGTGTCAGGGGCCGGGCTCAAGGAGGGCAGCTCCCTCTTCCTGTGAGCTGGCTTTAGCTCATCTGAGAGGATCAGCTTCCGTAGCTTGGTCCCACGGGAGTGTCGTTGAGTGGAAATGTGCATGTCTGAAGAATAGGCCCCAAGCAACAGGGCACACTGGAGGGAAAAGTTAATGCTCTGGCGGCAACGGTGGACTATGTAGGGCTTAATGGCATCACCCACGTCCTCATCCATGTGGATGTACATGTTAAGCAACTGGGGCAGATAGAAGTCCACGTCCTCGTTGCGAAAGCAGAAGAGCCGGTTGCCAATGTAGGCTTGTACTCCAGGCTCCTTGGAGTTATACAGGTATGAAATGGCCATGGAGATGTCAAACAGTTTTGACTCAAACAGCCTCAGCAGCCAAGACTGTTTAGCTGAGTTGTTCTGCCGCCGTCTTCTTGCTCCTTTGGCTGTGCCTGAGGCCACAGCGGCCCCCATCTCATCTTCCTCCTCCCTGATCTGGGCAGGTGGATCATCTAGGCAACGGATCTCACTGTCCACACCATCCCCATTGACCAACTCCAGTGGGGTGCCTCTGCTAGAGACTGCCACGCCTCCATGCAAAAGCTTGACTTTCTCCAACACCTCCTGGCAGGCCTTCTGGGCCACCTCAGGGTCAATCACTGATAGTTCCCCGACCCCCTCCGTGATGACACTTAGCAGGGACCCCCCATTATTCCCTGGTGGGCCAGAAGTGGGCTCAGAAGTTGGCTTCAAGGGGGCAGGCTCCACTACTGTATCTCCCATGGCCACAGCCAGACTTCGAGCTTCCAAGCTACAGGAAGAGGGAGGGAGAAAAGAACAGAAAGGGAGACACATACACACATTGGTTAGTGGTGCCATCCTCAGATCTTCCCTTTGCTATGACACCTTCCCAGGCACCTCCTCTTTTTGTCTTCCTGGACTCCTTCAAAATCAGATAAGAAGACATATCCTAGGAAGCTTTCCTGACTACCTCCACTTCTGATTACATTACTCGTCATTCCTCCTGTAGTTACTCAGCTTAGCCTCTGTTCTTAGCTTATATATGTGAAATGTTGTTTTGTATATGTTGTATTTATATAGATTTACAAATTCTTTTTGTTGTTGTTGTTGTTGTTGTTGTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGTAAGTTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCACCACAACGTCCAGCTAATTTTGTTTTGTATTTTTAGTAGACACACGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCCAACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCTACATTTACAAATTCTTTTTTTTTTTTTTTTTTGAGACAAGGTCTTGCTCTGTTACCCAGGCTGAAGTGCAGTTGAACAATCTGGGCTCATTGCAACCTTGACCTCCTGGGCTCAAGCAAGCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGCACACCACCATGCCTGGCTTATTTTTAAATTTTTAATCTTATTATTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCAGAACTCACTGTAGCCTTGATTTTCTGGGCTCAAGCAATCCTCCTACCTCAGCTTCCCAAGTATCCAGGACTACACGCATGTGCCTCCATGCCTGGTTAATTTTTTAAATTTTTCTGTAGAGACAAGGTCTCACCATGTTGCCCAGCCTGGTCTTGAACTGAGCTCAAGCAATCCTCCCTCCTCAGCCTCGTAAAGTGTTGGAATTACAGGCATGAGCCACCATGCCTGGTGATTTACAGATTCTTCGGGTAGACTGAGAAGCAAGTCAGGTGTTACTCCCTTGTTCCCTAACTCTTCAAATACTTTTCTATCCACTTGCTCTTCCTGTCTCCCTTTAAATGCCTGCTATAACCTTTTTATTTTCCACTTTAGACTATATTTCCTTACTCATATAACATTCTACACACAGGTCCTGTGCATCTCACCTTTATTTTTATTTTTTAGAGACAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTGTAACCTTGAACTCCTAGGCTCAAGGCATCCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTTTAGGTGTGTGCCATCATGCTCAGCTAATTAAAAAAAAATTTTTTTGTGCAGATGGCGTCTTGCTGTGTTGCCCAGGCTAGCTTTGAACGCCTGGCCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAAGCACTAGGATTACAGGTGTGAACCACCTTGCCCAGCCATCTTTATTTAATATTAAAGTCTTGGCTAGGCGCAGTGGCTCACGCCTGTAATCC
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CCATTATTAAACTATCCTAACAAAATTCCAAATTTCCAGAGAGCAGGCTCTATAGTCTCCCTCCCTCTTCCTTTTCTCTAGTCACTCTGACTTCCCTCTATTTGAAAGAAGTCCCATTGTATCAAAAACGTGGGTGGGTTATATGCCCCACAGAGGCAGATGCCAAGACCATAGCTATCCGCATTTTTCAAAAAGTGCAAATTCCTCCTTTTTTTCTCCCTCTTTTCTAGGCTGGGTTGGAAGCCAGGATGGGAGCCTGGCCAATGGTGAGTCAGAGGGGAGGACTGGAGCACCATTGTCTGGCTGGGACACCAGGTCACTGACACTTGGTAGTCCACTGGGCAGCTTTCCCTGCTATCTGTCCAGATGTGGAGTGAAGAGTGGGTATAACCTATTCATGTGGCCACCTCTTCCCTGCTCTATATCCTAAGTTATACCTCCAACTGCTGCTGTAGCTTCCTCTTCTTCCCAGCCTCCAGGTCCTTGACTAGGCACTATATTTACTCTATACTAAGAGTGCTTTCTCTTCCCTTTGTGCTTCTCCCAAATGGTATGGGAAAGATACCAGCAAGGCACTCTTCCCCCTAAGGAAAGGCAGGCAATGAAGGCATTCTCCAGATGCCTCAGTGATAAGAAATAAACCTTACACTTATGTCAACAAAAGGTAGGATCTTCAGAGGGTAGTGAAAAGGGATTAGATTATGAGGAGGAGTGGCCAGGAGAATGAAGCCGATGTTCTAACATCTCCCCTACCCCAGCACACAGAAAGACAATAGTACCTTTTCCTTTCCCACAGATGCTGCTCTGAGAGGCTCTGGTAGCTATCTCAAGTCTCAGGTCAGGGTGTGGAGGGCTTCTGCCACAGTTCTCATTAACATAGTAGATGTTAATGGAATGGCAGTTTATTTATTTATTTATTTATTTAGAGACGGAGTCTCACTCTGTCGCCCAAGCTGGAGTGCAGTGGCGCGATCTCTGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACACGCGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCTGGCCAGTGCAGTTTAATAAAAATGATTTGGGACACAGTCAGGAGCGTCAGCCTTGCCATGACCTATATGACCTGAGGCAACTCACTTTATCTCTCTGGGTCTGAGTTCTTCCTTTGTAAACTAAGGCAGGCAAAATACATGAATTCTAAGGCCTTTCCATTCTAACATTCCATGCTTTTATCAGTGAAATGAAACAGGGAGGACAGAAAGAACAGCGTAACCCTGTGTGTATATAGGAGGCATCCTGTCTCCATGCAGCCCTCTACCACCTTTTGTCTCTGGCCCTCCCCAGAATTTTACCTCATCCTCATTCTCCACTTTAGGGTTGCTGGCTGTTCGTTTCAGGTTGCTGCTGAGACTTATGCTGGCAGTGGCATCTGACTTAGAGCGCTGGTGAGTCCTTTTGGAGGGAGACAGCCCTGTGTCAGGGGCCGGGCTCAAGGAGGGCAGCTCCCTCTTCCTGTGAGCTGGCTTTAGCTCATCTGAGAGGATCAGCTTCCGTAGCTTGGTCCCACGGGAGTGTCGTTGAGTGGAAATGTGCATGTCTGAAGAATAGGCCCCAAGCAACAGGGCACACTGGAGGGAAAAGTTAATGCTCTGGCGGCAACGGTGGACTATGTAGGGCTTAATGGCATCACCCACGTCCTCATCCATGTGGATGTACATGTTAAGCAACTGGGGCAGATAGAAGTCCACGTCCTCGTTGCGAAAGCAGAAGAGCCGGTTGCCAATGTAGGCTTGTACTCCAGGCTCCTTGGAGTTATACAGGTATGAAATGGCCATGGAGATGTCAAACAGTTTTGACTCAAACAGCCTCAGCAGCCAAGACTGTTTAGCTGAGTTGTTCCGCCGCCGTCTTCTTGCTCCTTTGGCTGTGCCTGAGGCCACAGCGGCCCCCATCTCATCTTCCTCCTCCCTGATCTGGGCAGGTGGATCATCTAGGCAACGGATCTCACTGTCCACACCATCCCCATTGACCAACTCCAGTGGGGTGCCTCTGCTAGAGACTGCCACGCCTCCATGCAAAAGCTTGACTTTCTCCAACACCTCCTGGCAGGCCTTCTGGGCCACCTCAGGGTCAATCACTGATAGTTCCCCGACCCCCTCCGTGATGACACTTAGCAGGGACCCCCCATTATTCCCTGGTGGGCCAGAAGTGGGCTCAGAAGTTGGCTTCAAGGGGGCAGGCTCCACTACTGTATCTCCCATGGCCACAGCCAGACTTCGAGCTTCCAAGCTACAGGAAGAGGGAGGGAGAAAAGAACAGAAAGGGAGACACATACACACATTGGTTAGTGGTGCCATCCTCAGATCTTCCCTTTGCTATGACACCTTCCCAGGCACCTCCTCTTTTTGTCTTCCTGGACTCCTTCAAAATCAGATAAGAAGACATATCCTAGGAAGCTTTCCTGACTACCTCCACTTCTGATTACATTACTCGTCATTCCTCCTGTAGTTACTCAGCTTAGCCTCTGTTCTTAGCTTATATATGTGAAATGTTGTTTTGTATATGTTGTATTTATATAGATTTACAAATTCTTTTTGTTGTTGTTGTTGTTGTTGTTGTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGTAAGTTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCACCACAACGTCCAGCTAATTTTGTTTTGTATTTTTAGTAGACACACGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCCAACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCTACATTTACAAATTCTTTTTTTTTTTTTTTTTTGAGACAAGGTCTTGCTCTGTTACCCAGGCTGAAGTGCAGTTGAACAATCTGGGCTCATTGCAACCTTGACCTCCTGGGCTCAAGCAAGCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGCACACCACCATGCCTGGCTTATTTTTAAATTTTTAATCTTATTATTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCAGAACTCACTGTAGCCTTGATTTTCTGGGCTCAAGCAATCCTCCTACCTCAGCTTCCCAAGTATCCAGGACTACACGCATGTGCCTCCATGCCTGGTTAATTTTTTAAATTTTTCTGTAGAGACAAGGTCTCACCATGTTGCCCAGCCTGGTCTTGAACTGAGCTCAAGCAATCCTCCCTCCTCAGCCTCGTAAAGTGTTGGAATTACAGGCATGAGCCACCATGCCTGGTGATTTACAGATTCTTCGGGTAGACTGAGAAGCAAGTCAGGTGTTACTCCCTTGTTCCCTAACTCTTCAAATACTTTTCTATCCACTTGCTCTTCCTGTCTCCCTTTAAATGCCTGCTATAACCTTTTTATTTTCCACTTTAGACTATATTTCCTTACTCATATAACATTCTACACACAGGTCCTGTGCATCTCACCTTTATTTTTATTTTTTAGAGACAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTGTAACCTTGAACTCCTAGGCTCAAGGCATCCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTTTAGGTGTGTGCCATCATGCTCAGCTAATTAAAAAAAAATTTTTTTGTGCAGATGGCGTCTTGCTGTGTTGCCCAGGCTAGCTTTGAACGCCTGGCCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAAGCACTAGGATTACAGGTGTGAACCACCTTGCCCAGCCATCTTTATTTAATATTAAAGTCTTGGCTAGGCGCAGTGGCTCACGCCTGTAATCC
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Task1_train_1552
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Given a variant located on Chromosome 1 and affecting POGZ (pogo transposable element derived with ZNF domain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
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GCTTACAGGATGAAGACTCAAACTGGGAATGGCTTCCACCCTAAAACTGTTTGATCGCTTCAGTATCTCTTGCTTGCTAATAACACCTGTATGATCCTTTGTCCAGAGGGATGGATGGTGTTGAGAATGGGGAAAGGGGCCAAGGATCACAAGTGCAAAAAATATTGTTTATGTCATGTTTTGGAGGGAAGGTGGTGAGGAAAAGACAAATCTATTCATTCTGGATAATTAAAGGTGGTTTCATGCATTTTTAAAGCCACAATTTTATATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTCGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGA
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GCTTACAGGATGAAGACTCAAACTGGGAATGGCTTCCACCCTAAAACTGTTTGATCGCTTCAGTATCTCTTGCTTGCTAATAACACCTGTATGATCCTTTGTCCAGAGGGATGGATGGTGTTGAGAATGGGGAAAGGGGCCAAGGATCACAAGTGCAAAAAATATTGTTTATGTCATGTTTTGGAGGGAAGGTGGTGAGGAAAAGACAAATCTATTCATTCTGGATAATTAAAGGTGGTTTCATGCATTTTTAAAGCCACAATTTTATATCTAGGGTTGCTGTAGAAACCAACATCTCTGGAGAGGGAAGGAAAGAAAAGGAGAAGGAAGAGAGAGTTCAGTGGGACTTTTTTTCCATTTTCATTTTTATATAAAAGTGTTAAGACCACAATGAAAAAAGTTTTTTATCCATATATATAATAAACCAGTTTGTGAGCTACATAATTTGTCTTTCCCATCTTCAGAAATGTTCTCACATTAACAATGATTAGATAGCATCATGCCCAAAGACATTGGCCACACAATAAAACAAACAAAAAAACCCAGTACTATGATACAATTGAGGTAAAAGGGGAAACAAAAAAATTTAACATTTGCCCACAAATAATTTTTTTTCTTTTTCTTAATTTTGTCAGAAAAATACCAAACACAGTGATTTAAATTTAAAAAAAAAAAAAGTCACAAAAACCTGTTTTTAGCAGAAGTGAATGACCAATGGGCCAGCTCCTTGGCTCAGACGTGATTACTATTGGTTTTCCTAATTAATCCACAAATCCACAGGGAAGTGTAAGTCAACTTCAGGGGGGAGTGGTGGTATAAAATTAAAAAATAGAAACCAAATACCCCACCTGGTATGCCCCCTTTTCCCTAAGCCCCTTTACCCTCCCTCACATGTTCCCACCCTCACTCCACACCCCCTCATGACCCCAACACTCAAATCTCCATCAGATCTAGGTCAGCTTCTTCAAAGCCATAGAAAGACTCGGTCTCACTTTCACCCTCAAAGAGCTGGTGAAGACTTTCAGGCTCAATTGTCTCTTCAGGAGATGATCTGGGTCGTGGAGTGGAAGACTCAGAATGTTCCCCACTCAGCTTCAGTTGCTCCTCTAGGGAGGCAATTAGCTCCTCCTGCATGTCAGCATTTCTTGTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCAGAACACTAGCCACCAGGAAGGAGCGCTGAACTAGCTCTGGACAGTCCCCAATGACACCTAGCACTTCACCCAGCCAGACAAGCACCAGCTGAAGCAGGACATCAGAATCACATGCAGTATCTGCCATTTCCCGAGCCTGTTCCTTCCATTTTTTATGCAGGAAGTTCTTGACAGTTCTTTTGATGCATACATCTAATGGCTGAATTTTGGAGCTACAGCCTGCTGGGACCACTGCAGGCAAAGTGCTAGAGGCACTAAGCATAGCCAGTACCTCTTCTGACAAGTGAGTGCGATGACAGTCCATCACAAGCATGCCTTTGCTGCGCTGGCAAGCTGTGTGCTTCTGCCACACTCGAGTTGACCACAGCTCCATGATCTCGTCATCACTGTAGCCACTCTCCTTTGCCTCTAGCAATATGGAGTCTGGCATGTTAGCAGGCTGATCCATCTGCCCTCTGTAGAAAACCAGGGTGGGAAGGACAGTGCCATCTGCCAGAATGGCTAGGACTACATCACACCAAGGTTCCCCTGTGCCCACTGTCTGCAGGGCATTCTCCTTTCGATCATCACTGCTCAGCACCTCTGTATCCAGGAACAAAGAGATCTCATCAATAGCCACAATCATAGACAAGGGTAAGTCCTGGTTGTGAATCTGCCGTTGTACAAAATCAATGAAGAGTCCTGCATTCTCTGCTACATCCTTAGGTAGGGTGTGGGCCACAGCTCGCCGGGCATGGGGAGTCAGGTGGTGCCGCAGCATGAAACGCACAGCCCACTCATAGGAGATCTTAAACCCCCCTTCCAAAGAACGTCCTATTTTGGTGGCCTTCTGGAACAAGGTCTCCTCATTTACAGGTAGCTGTTGTTTGCGCTGGGTTAGCACCCACTCAGCCAGTTTCTCTTCTGCCTCAAAGCTCAGATATTTGCCCTCTAGATTCTCCCCCTGGGAGGCCTGGAAACGTCGAAGCCAACGGCGAATACGTCGCTGGGGATTTCGGAAGTGTTCAGCTGCCTGTTCTGTATTGCAGCATAGAGCAAACAGTACTACTCGAAGCTTCTTCACAGACAGCTGCTCCTTTTTGCCAACTCCACCACTACCACCACCACCTGATGCTAGCTCAGGTTCTTGGGTGACTGGGCTCCCTTCATCCTGATCATCAACATTCAGACATTCGGCTCCCTCTGTAGCCAGCGGTGGAAGGGCTAAAGCCTGCGGGTGAGTGGGGGTTGGTGGTGGGGTTGCAGTTGAGGCTGGTGATGGGAGTGCTGGGGCTAAGGGAGTTAGTAGCTCTTCAGGCTCAGCTGGGGTGGCCCCCGCAGATTTCACAGTGGCAGCTTTGTTAGTGGGGAAGGAAGGAGGAGGGTACATATTCTTCACGTTCCGGTCATGCACTCGGTCACGAGTCTGGCCATGCCTAAAGGGGTGAGGAGCAAAGAGAAGAGGAGAAATCTCAGTTCAACTAGGAAATTGAAACAATAATATGATAATAATAATAATAATAACAGAGTAAACACACTGCAAACCAGAAATTAAATTGTGAGGTGAGTTTTTGTTACCTTGAGTGAGCTATCCAAGTGAGTCCTATGGAAAATGAAACAACAAAAATAGTTAGCTCAGTGAAAAAATAAGCCCTCCAAAGACAGTGCCCTGGGATTCAACTTACTACATACAAATACGCTGTTCGCAGTGACCAGCTTTCCCAGTTTTATATAAACTTCAGGTCGGAAGGTTTCTAATTAGGTCCAGCACATCTCAACAGTGAATGAGTGAGGCCAAGTAGGTATGCTCCTGATGCATACAGTACGAACCTGTATCTTTTTTCCTCCCCTTGCTCAACTAATCCCCTTCTCTCCTACTTACCCCGTGGCAGGATGCTGCTGGATCTGTGAGAGGGGTTGAATACCAAATGCTTGGCCATAGCATCGCCCACAGAGGTAACAAAGGTACATGAAGTGCAGGCCAGCTTGATTCCACTAAAAAAGAGAATTGAGACTATGTAAGACAAACACAGCAGTGACACTTGAGACCATTAAGCTTTGAGGCTTAAGAAAGAAAAGGAATGCCCTCCCACTTTCTCCTTTTTCTGAAATTAATTCACATAACCACCTCTCCAAATAATGAAAAACCTGAAAATTAATGTAAAAACCTGAAAAATTAAGATGCTGCCAATAAGTTTTTTCTTACCTCACAGAATTTTTAAACAAAGCCAAATACTTGGGGCTCTTCCGTGGAACATGATTGCTGAGAAAGACAAAGAAGTGGTATGAGTTACGGAGTTCTGCTGGCTAAGCTAGAGATCACCAGCCAGTGACAATGCCCCCAACAAAAGAGACACTTCTTCAGTGCACCCTAATCTCAACCTAAGCCAGTTTTCCTGTCACCATGCTTCTTAAACTTTAATATGCATACAAGTCACTGAGGATCTATTAAAATTCACATTCTGGTTCAGTAGGCCTAGGGCGGGGCTGAGAGTCAGCATTTCTAACAAGCTCCCACCTAATACTACTGGTACTTGAATAGCAAGGCCCTATGAAATTAGAGCACAGACCATCAAAACCGAAAAAACAGAGCCTCTCACTCTGCTAGGAGAGAAGAACAAATAGCTCTAAGAGTTGAAGGAGGAAACATATTAGAAGCAGGGGAGAAAATGAAATGAGTGCTCAAGAATCTGGCTGGGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTAGGGAGGCCGAGGCAGGTGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATCAGCCAGGCATGGTGGTGCACACCTATAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGA
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Task1_train_1553
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Given this variant in gene POGZ (pogo transposable element derived with ZNF domain) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; not provided
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CCTACCCTGGGTCCTCCCTTTTTATAAATAAACTTCTTTAAATACATCGTCTTCATTTCCTTACCTCTCATTCATTTGTTCTGCTGAAATGTGACTTCCACCCTACCAACCAACAAAATGGCTCTCATCAATGTTGCTAAATTAAAGGCCTGTTTCTAAGTCTCTATGTTGCTTGACACCTTCCTGTAACATATGACATTTTGATCACACCCTTTTCTTTAAAACACTTTCTTCTCCCCAGTTTCCTTAAGGTTAAGACTCTTCTGGTTTTCCTCCTAGTACTATGGTGGTTGCTTTATAGATAAGGGACTTCAAATATCCTAAGCCTTCTCTTATTCTCAACAGGGTTGGGGGGCCCATGGTATTTAAGTTTAAAATCTATAGGATTTATATAACGCTGATTCCTAAATCTTTTCTACAACCCAGAGTTCTCTCACAGGCTTGAGATCTATTATCCAACAGCTACACTTGACATCCACAGATACTGCTAACTTACAATATCCAAGCTCATGATCTCCCCCCTCACAAATATACTTTCTCTATTGTTTCTATTTCAGCAAATAGTTCCCTCATTCACCCAACTGCCCAAGACAGAATCTTAGGCACTATTCTTAACTACTGCATTGCTACCTTCACCTAATCCATCTCTACATCATAAATATCACAAATCTTCTGAATATCTCTCAACTCTACCCTCTTTTTATTTCAAAAGCCAATAGCCACTATCATCTCTCACCTAAACTACTGAAAAAGGCCTTCTAGCTAGTTTCCCTAACTGTAGTCTCAATCTCCTTTAATCCATTCTCTGCAGTGCAGGCAGTATAAAGCCTTAACTAAAGCTGAACACATCACTCCAGGGCTTAAAACCCCTTTAGTGGCTTCCCAGTGAATTCTTTTCATGGCTTAAAAGATCCTCCATGATCTGTCCCTGCCTAACTTCCAACCCCTCTGTCTCTTACACCCTACACTGAATCTCTCTCAATTTCTTGAACCTCCACAATTTTGCTTTGTGCCTTGGGCACACTGTTCTTCGTCTTATTTCATCTGGCTCATTCTTATTCATCCCTCAGGTATTGAACAACACTTCTTTCTGGAAGCCTTACTAGGCACCCAGAATAGCTATGTGATTTTCTATATCCTATAATTTCCCCAACACAGTACTCTTCATGTTTTATTGTATTGTTTGCCTTGTTTACTACTAAATCTCTAGCATCTAGACTAGTACATGGCACATTAAGTGAATTCAATAAATTTCTGCAAACATATGCATATTATAATCTCTGCCCAAATTATTTGCCTAGCTCAGCCCTGGCCCCAGCATCCATGTTTAAAAAAAAAAAAAACAAGAGAATATGGGAATTGCTTGGTGCCTAGTACCTGGTGCCTCATGTAATGCTGTTGGAATGCATTGCCATTTTTGAAGACCTTCAGGCAATAAGGGCAGAGCAGATGCCGGGTATCCTCATGGATCATCCGAAAATGGACATCTACCTCAGAGTAGAGTGAGGAGCGATATTGACACACCTGAGTCACATAGGAGGGAAAATAAGGCTAAGAATGAAGTGAACAACTGAGAGGCCTTAAAAAAAAAGGTAGCAACAAAAATTTTTAAATTAAAAAAAAAAAGTTTTCTCAAATGCATAGAAATCAAATTATTTTCCTGACTTTGTAATGCTGGGCTATGTTTGTGATAGGTTTAGCTATTACTTTAAAAATAGGAAGGGACAGAAAGTCTAAGAATAATCCATGTTCTCTAACTAAGAAAAATAAAGCCTTTTCTGTCAATTTCCAAAGGGCACGTTCAGGAGACAGACACTCCCTTAGAATATGCACATGTTCCCGGCTAGTCTACTTGTGGACATGTTCTTTTATGTTTTTCTCCTGCATGGAAACCCTGAAGATAAACTGTGTTTACTATTTCTTCTGTACCTACTCAGAGTTCCTAAACTGAGTGTATGCAGTAGGTGGTCAACAATATTCATTAGTAAATTCTTTGTATTCTTCCTGAGGGCAAAACTGCTAAAACTCCCTGGAGAAAAAGGCAATACCTGGCAAACATAAGGCATCTCTCCAGGCTTATGAGTATCCTTCATATGCTGGAGAAATAGTGGCTCACTTTCAAACGCCCATTCACAGATCTTGCACTTGGCTGTAAGAAGAAAAGTAATCAATAAATCCACTTGAAAATAAGACAAAAGTCCTGCTGACTCACAATCTTTATTTTCTCTGCCTCCTTTATTTTGATTTTCAACAATCAGTAAATCATAGGTCCCTTCTGTTCTTTCTTTAAATGGCTCCACCTTAACATATATGTTGCTGATAATCTTATGTACGTAGCTCAGACTTCTTACCAAAGCTTCATTCTAGATTTTATCTATAAGACATTTTAAATTGGTTATTCTATCGTCAACTCTAACCTAATTCAGCATCCTCCTGTCTTACCACTGTTTCCCTTTTTCCTTTCCCCATTTCTTCCTGAGCTCAAAATTTAGGCACTATCTCGGATTCCAAACCCTGCATTCTGTCACCATTATTTCAAACTGCATGTAGGAACTGTCACTTCTCTATACTTATAATAAGGCAAAAACTTGGTACTAGCCCATATGATTTCCCACTGCTAATCAGCTGGCCTCCAATACCTCCTACTCTCTTTGAAATTGTCCATTTTGTCAAGCTTATGAGAAAAAATTTTGACAAAATTTTATGACACAAATGAACAATTTTGTCAAACTTCTGAGACAATTTTTGGTAATTTCATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTACCTGTCCCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGCCTGGGCTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGAATCTCACTGTTGCTCAGGCTGGAGCATGATCATAGCTCACCGCAGCCTCCTGAGTAGCTAGGACTATCCTTTGAGCTCAAGCGAGCCTCCTGTTTCAGCCTCCCAAGTAGCTAGGACTACAGTGGTGCACCACCATGCCCAAGTAATTAAAAAAAATTTTTTTTTGTAGGGACAGGGTCTCGCCATGTTGCCCAGGCTGGTCGGAAACTCCTGGCCTCAAGCAATCCTTTTGTCAATCCACTTCAGTCTCCCAAAGTGCTAGAATTACAGGTGTGAGCCAGTGCACCGGCCAATTTTGGTAAGACTTTTAACTGCTACATATTTTTAATTATACAGTATGGCAAAAAGAGAGAGATTATTTACATTTTTGTCACTTTAATGGAATTAGTTTCAAGTTTTTGCAAATATGAAAACTGGAAGCTTAAAGCCTTGGGCATTTACTGGACAATGTCTAACCTCCCCCCGCCCCCAGCCCCCTACACCCCAGCCAAAGAAATATGAATAAAGTTGAAATAATTCTTTTTTCTTTTTTTAACTACCGAGAACCCTGGATTTTTGTTTTGAGACAGAGTCTCGTTCTGTCTCGCACGCTAGAGCGCAGTGGCTCAATCATGGCTCACTGCAACCCTGACCTCCCAAGCTCAAGCAATCCTCCCATCTCAGCCTCCCAAAGTACCAGAATTACAGGTATGAGCCACTGTGCCTAGCCAAGTAATTTTTTAAAGTAAAACAAACAAACAAAAGCCAGGGGTTCTTAATCTGGGGTCTATGGAACAGGCCTCTAGGAATCCAGGCTTTCTCTGAAATTATTTGCAAAAGAGTAAAATGTAGATTTTTCTAGGAAGAGGATTCAAACATTTCATATTTATTCTCAAAGAGGTCTGCAACTCCATTTAGAAACACTGTCTACAGGTACATTAGGTGCTATGAGGACATGGATAAATAAGAAATTCTGCATAAAGGAATGAGGAAAAGCTATAACAACATATAAAAGCTGAATTGTCAAAGAATGGGGCTCAGCCAGCCAGAGAGAGGACCAAGAGAAAAGCAGGAGGAAAGGCAAGTAGGTATGAAAGTTAACCACATGTTTGGGAAACAGTTAACTAGCAACATAACGATATTATCTCTTTTCCACTCACCCCCCGATTTGTTTACCTCTCTCATTTTTCTCTTCTAGAACACCTTTAAGCAATATTTTGTCCAGGCCT
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CCTACCCTGGGTCCTCCCTTTTTATAAATAAACTTCTTTAAATACATCGTCTTCATTTCCTTACCTCTCATTCATTTGTTCTGCTGAAATGTGACTTCCACCCTACCAACCAACAAAATGGCTCTCATCAATGTTGCTAAATTAAAGGCCTGTTTCTAAGTCTCTATGTTGCTTGACACCTTCCTGTAACATATGACATTTTGATCACACCCTTTTCTTTAAAACACTTTCTTCTCCCCAGTTTCCTTAAGGTTAAGACTCTTCTGGTTTTCCTCCTAGTACTATGGTGGTTGCTTTATAGATAAGGGACTTCAAATATCCTAAGCCTTCTCTTATTCTCAACAGGGTTGGGGGGCCCATGGTATTTAAGTTTAAAATCTATAGGATTTATATAACGCTGATTCCTAAATCTTTTCTACAACCCAGAGTTCTCTCACAGGCTTGAGATCTATTATCCAACAGCTACACTTGACATCCACAGATACTGCTAACTTACAATATCCAAGCTCATGATCTCCCCCCTCACAAATATACTTTCTCTATTGTTTCTATTTCAGCAAATAGTTCCCTCATTCACCCAACTGCCCAAGACAGAATCTTAGGCACTATTCTTAACTACTGCATTGCTACCTTCACCTAATCCATCTCTACATCATAAATATCACAAATCTTCTGAATATCTCTCAACTCTACCCTCTTTTTATTTCAAAAGCCAATAGCCACTATCATCTCTCACCTAAACTACTGAAAAAGGCCTTCTAGCTAGTTTCCCTAACTGTAGTCTCAATCTCCTTTAATCCATTCTCTGCAGTGCAGGCAGTATAAAGCCTTAACTAAAGCTGAACACATCACTCCAGGGCTTAAAACCCCTTTAGTGGCTTCCCAGTGAATTCTTTTCATGGCTTAAAAGATCCTCCATGATCTGTCCCTGCCTAACTTCCAACCCCTCTGTCTCTTACACCCTACACTGAATCTCTCTCAATTTCTTGAACCTCCACAATTTTGCTTTGTGCCTTGGGCACACTGTTCTTCGTCTTATTTCATCTGGCTCATTCTTATTCATCCCTCAGGTATTGAACAACACTTCTTTCTGGAAGCCTTACTAGGCACCCAGAATAGCTATGTGATTTTCTATATCCTATAATTTCCCCAACACAGTACTCTTCATGTTTTATTGTATTGTTTGCCTTGTTTACTACTAAATCTCTAGCATCTAGACTAGTACATGGCACATTAAGTGAATTCAATAAATTTCTGCAAACATATGCATATTATAATCTCTGCCCAAATTATTTGCCTAGCTCAGCCCTGGCCCCAGCATCCATGTTTAAAAAAAAAAAAAACAAGAGAATATGGGAATTGCTTGGTGCCTAGTACCTGGTGCCTCATGTAATGCTGTTGGAATGCATTGCCATTTTTGAAGACCTTCAGGCAATAAGGGCAGAGCAGATGCCGGGTATCCTCATGGATCATCCGAAAATGGACATCTACCTCAGAGTAGAGTGAGGAGCGATATTGACACACCTGAGTCACATAGGAGGGAAAATAAGGCTAAGAATGAAGTGAACAACTGAGAGGCCTTAAAAAAAAAGGTAGCAACAAAAATTTTTAAATTAAAAAAAAAAAGTTTTCTCAAATGCATAGAAATCAAATTATTTTCCTGACTTTGTAATGCTGGGCTATGTTTGTGATAGGTTTAGCTATTACTTTAAAAATAGGAAGGGACAGAAAGTCTAAGAATAATCCATGTTCTCTAACTAAGAAAAATAAAGCCTTTTCTGTCAATTTCCAAAGGGCACGTTCAGGAGACAGACACTCCCTTAGAATATGCACATGTTCCCGGCTAGTCTACTTGTGGACATGTTCTTTTATGTTTTTCTCCTGCATGGAAACCCTGAAGATAAACTGTGTTTACTATTTCTTCTGTACCTACTCAGAGTTCCTAAACTGAGTGTATGCAGTAGGTGGTCAACAATATTCATTAGTAAATTCTTTGTATTCTTCCTGAGGGCAAAACTGCTAAAACTCCCTGGAGAAAAAGGCAATACGTGGCAAACATAAGGCATCTCTCCAGGCTTATGAGTATCCTTCATATGCTGGAGAAATAGTGGCTCACTTTCAAACGCCCATTCACAGATCTTGCACTTGGCTGTAAGAAGAAAAGTAATCAATAAATCCACTTGAAAATAAGACAAAAGTCCTGCTGACTCACAATCTTTATTTTCTCTGCCTCCTTTATTTTGATTTTCAACAATCAGTAAATCATAGGTCCCTTCTGTTCTTTCTTTAAATGGCTCCACCTTAACATATATGTTGCTGATAATCTTATGTACGTAGCTCAGACTTCTTACCAAAGCTTCATTCTAGATTTTATCTATAAGACATTTTAAATTGGTTATTCTATCGTCAACTCTAACCTAATTCAGCATCCTCCTGTCTTACCACTGTTTCCCTTTTTCCTTTCCCCATTTCTTCCTGAGCTCAAAATTTAGGCACTATCTCGGATTCCAAACCCTGCATTCTGTCACCATTATTTCAAACTGCATGTAGGAACTGTCACTTCTCTATACTTATAATAAGGCAAAAACTTGGTACTAGCCCATATGATTTCCCACTGCTAATCAGCTGGCCTCCAATACCTCCTACTCTCTTTGAAATTGTCCATTTTGTCAAGCTTATGAGAAAAAATTTTGACAAAATTTTATGACACAAATGAACAATTTTGTCAAACTTCTGAGACAATTTTTGGTAATTTCATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTACCTGTCCCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCGTGCCTGGGCTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGAATCTCACTGTTGCTCAGGCTGGAGCATGATCATAGCTCACCGCAGCCTCCTGAGTAGCTAGGACTATCCTTTGAGCTCAAGCGAGCCTCCTGTTTCAGCCTCCCAAGTAGCTAGGACTACAGTGGTGCACCACCATGCCCAAGTAATTAAAAAAAATTTTTTTTTGTAGGGACAGGGTCTCGCCATGTTGCCCAGGCTGGTCGGAAACTCCTGGCCTCAAGCAATCCTTTTGTCAATCCACTTCAGTCTCCCAAAGTGCTAGAATTACAGGTGTGAGCCAGTGCACCGGCCAATTTTGGTAAGACTTTTAACTGCTACATATTTTTAATTATACAGTATGGCAAAAAGAGAGAGATTATTTACATTTTTGTCACTTTAATGGAATTAGTTTCAAGTTTTTGCAAATATGAAAACTGGAAGCTTAAAGCCTTGGGCATTTACTGGACAATGTCTAACCTCCCCCCGCCCCCAGCCCCCTACACCCCAGCCAAAGAAATATGAATAAAGTTGAAATAATTCTTTTTTCTTTTTTTAACTACCGAGAACCCTGGATTTTTGTTTTGAGACAGAGTCTCGTTCTGTCTCGCACGCTAGAGCGCAGTGGCTCAATCATGGCTCACTGCAACCCTGACCTCCCAAGCTCAAGCAATCCTCCCATCTCAGCCTCCCAAAGTACCAGAATTACAGGTATGAGCCACTGTGCCTAGCCAAGTAATTTTTTAAAGTAAAACAAACAAACAAAAGCCAGGGGTTCTTAATCTGGGGTCTATGGAACAGGCCTCTAGGAATCCAGGCTTTCTCTGAAATTATTTGCAAAAGAGTAAAATGTAGATTTTTCTAGGAAGAGGATTCAAACATTTCATATTTATTCTCAAAGAGGTCTGCAACTCCATTTAGAAACACTGTCTACAGGTACATTAGGTGCTATGAGGACATGGATAAATAAGAAATTCTGCATAAAGGAATGAGGAAAAGCTATAACAACATATAAAAGCTGAATTGTCAAAGAATGGGGCTCAGCCAGCCAGAGAGAGGACCAAGAGAAAAGCAGGAGGAAAGGCAAGTAGGTATGAAAGTTAACCACATGTTTGGGAAACAGTTAACTAGCAACATAACGATATTATCTCTTTTCCACTCACCCCCCGATTTGTTTACCTCTCTCATTTTTCTCTTCTAGAACACCTTTAAGCAATATTTTGTCCAGGCCT
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Task1_train_1554
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This variant impacts the gene RORC (RAR related orphan receptor C) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
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TTTCAGGAGGCCAGGGGGACAGGCAGAAGCCTCAGGCAGGTCAGGCGAGGAGCCCAGGGGCAGCTGCCCGTCTGGGAGCCCCAAGGTGTAGGTGAGGGTATCTGCTCCTTGGGCCCCTGCTGGAGGGGTCTTGACCACTGGTTCCTGTTGCTGCTGTTGCCGCTGCTGCAGCTGTTTCTGCACTTCTGCATGCAGGCTGTCCCTCTGCTTCTTGGACATGCGGCCGAACTTGACAGCTGAAAGAGGTCCAGGGACCAGGGGTTTATGAGGCAGGAGAACATGGCACAGGGCAGGGTCAGGAGGCATTTGGTCATTAAAGGATTAACTTGCTGCTCTCTGAATGGCTGACTCCAAGCACAGCTTCTCTAGCCTTTAGGGAACTTATGCTCAAGACCCCGTCCACCTCTCACTCTTGTTTGCTTCTGGGGTCTGTCCAGTCTGCCATTTCAATCTGCTAAGCAAAATCTTCTAAGTTCTAAATCAGATTTGAATCATGGCAGAATTCAAGCAATGAGTCTAGGCTGGGGATTCTGGCCTCCAGATCTTGGGGCTGGGGGTGGTCGAGCAGAGGGCCTCAAGCTGTATTGGGGTCACCTCGCCTCTTTGGGAGGGTCGGAGGAAGAGGAGAGCTGAGAACACAGGTCTCCCTGTGGTCAGGCCTGCAGGCTCCCTGGTGACCTAGATACTCACCACAGCCCAACCCGGGCTCCGCGGCTTGTTTCTGAACATCCTCTTCTGCTCTCTCTTTCCTGCCTTTTTACTCCCCCCGCCACCCCTCCCAGGTGTAGGGGCACAGCCCCTCGCCCCGCCTGCCCCTTTGCACCCCTGCGTGCTTCCTTTTGCTTTGTTATTTTGGGCACTGAAAAGTGCTGACGGGCTCCTTCTGGCTCCTCATCACCTCATGCCCCCCCAGCTCCACCCTAGGCTCCTTCTGTGGTGGTGGAGGTGTGCAGGGAGACTGGTGAGGAGGTGGTGGGTGAGGAGGGTGGATAAGGCACCAGGAACACCAGCCCTCCCCCACGACCACCCTCTGGTTGTTCTCAGGCCAATTCTGTTTCCATTCCTGGCTATAGTCCTGTGTCCAAGTATGGGAATGGGGGATTAGAAAAGGAGATAGAGCTAGAACTACAACAACAGGGTAGCAGGGGAAGGTGCCAGAGCTGCATGGGAGCTGGGCCAGAGGGCAGCAGAGTGAGGAGAATTCGTTCCAAGTAAGAAGAGATGAAGAGGTATGGGACCTTGGAAAGAGGATGTTTGTTCTAGCAAAGCCTAAAGTTGGGGACTCCAAAGAACTTTGATGGGGGTGACCCATCCATCCCTGGAGGGGAGGAGACAAGGGGTTGTAACGGGGAGGAATGGAGAGGAGACCAGAGGATGGGCCGTCTTGCAGGTTAAGCCTTGTCTAGCTCAGCAGGCCAGGCTGCCCCTCTGGAGACACCAGGAAAACCCCAGGGGGCTGTCGACTTGGCCTCACCATCTCGGGACATGCCCAGCGCCAGGCATTTCTGCAGGCGGCAGTGCTGGCATCGGTTTCGGCTGGTGCGGTCGATGGGGCAGTTCTGCTGACGGGTGCAGGAGTAGGCCGCGTTACAGCGCTGGCTCCGGCGGAAGAAGCCCTGGGGAAAGCAGGTGGAGGGCAAGACTGCTTATCCTGGTCAGGCCCAGCTCACTCACAAAGGCCTCCAGCCCACAAGCTCTGGCAGCTTTTCTACATCCCACGACCTGTCAGTTTTCTCTCTCCTCCATCTATTTGTGTAATTGCAATTTATCCTGTAGTCATTTCCCCAGCTTAAGACAGGGCCCTGCCAGTGTTGAGGGCCCTGCAGGAAGGCGCTACTCAGGCATTTTCCTGGCTGCCCAGGAGATCATCCCTGGAGTCAGAACAAAGGCCATTAACCCCCTTGTTTATCTCTAAGGAGACACTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCTTGTGTATGCACACGCACACATGCATGCATACACATGCCTATGACTCACCTTGCACCCCTCACAGGTGATAACCCCGTAGTGGATCCCAGACGACTTGTCCCCACAGATTTTGCAAGGGATCACTTCAATTTGTGCTGGAAGAGAGAAAGAGAAGTAGGTCAGCCCAGGAGGCTTTTCTGCATTCAACCACCATGTACCTGGGCTGCAGATACAGGTACCTGGTGCTTCCACTACTTCTCCAACCAGCTCCAGCTTGCTGTTTCCCTCTTGCAAAATGGAAGGGGAAGTGAAATGCCAAATGCTTCTCAGCAAAGGGTGTGAGGAAGCTGTGTTTGTTTCACAGAGGAGGGGAGTGTGGAGGGGTGGCCGGGAGTTGTATCAGTGCTATGGAGGCAGAGAAAGCAGCTGCAGAGGGGCCACCTGCTCAGCCCTTCGAGTTGAAAAGCTCCAGTTGCCTCCCTCCCGCCTTGGGACATAGGACTCCTCACGGCCTCACAACACCTGCTTCCCGCCGAAGGGGCTTCCTCTGTGCCTCCCTCCCTCGCTGGGGCTCAGCTCCCATGGGCAAAGTGTAGGGTATAGCAGGAAGATGTGGTACACAAGGGGTGGGGGATAGGCAGAGATGCCAGTCCTTCCCAGCCAGACAGTGAAGGCTCAGGGAGGTGCTATACAGAGACAGGGTGAGGGGGTGGCAGGGAGGAACCCAGGAAACGGGGGCTCAACACCCCAGCTCTGCTGGATGCCTGAGAGCCTAGGGAAAGAATTAGCCAGGGCTCTTAGGCTCTTGGCCCCAGAGCAGAGAGAGGGTGGCTTTGTGTACATCCGTGTGTCTGAGTGTGAACACTTATGTTTGTACAAAGGCATCTGTATCCATTTGTGTGAACATGAATCATCAATGTTAAAAATGGCTGAGACTAGAGACCATCTCATTCAACCTCTTCATTTACCGATGAAGGACTAAGCCAGATGAGGCAAAGCGGTTGGGCCAGGGTCATAGGCTAGTTTGCCTGAGAGCTGGATCTACATCCCAGTTCCCCTGAGCTTTCCATTATGCTGTTCTGTGTACCTGTCTTTTCGGGTACACATTTCAGTGGGCATGTTTGAAGGTGTGCTTGTGGGTGTGCATATGCAAGAAAAGTATGTGTCATTTGTGAGCCTACGACATATCTGGTTGCTCCTGCGTCCACACGTGCATATTTGTATGTTAGTGTCTGCTCATGGGGCACTAGGACCCCGGGTTCTCTCTCCCACTGAACTCACTGTAACCTGTACCTGCTTCCCTACCCCTGTGGTTTGCTGCTGGCCCTAAGCTCATCTCTGCTTTGCCCTGTTCCTGTCAATGCCCACGACTCTCTGCTGAGCTTCATGGGACCACAGGAGGCCTTCTCCCAGCTCTTCCTTGAAAGGTAGCTGGGCAAAGCTTGGGATCCCTGGTTACTGTAGGTGTTTTTAGCATTTCCCAGAGCACATGGGTCTCTTTTCCACCATCACTGACCTGCTGCCTCCCCTCTGAGTGGGGAGCCCTGGGGCGGGACAGGCCAGAAAAGTGAAGAGAAGGGCCAAAGCCCCTTTTAATCTATGACGTGTCTCCCACCAAAGGGGCAAAAGAAGTGGCAGCCTCTCTGGAGGGCGAATGCACATTGCTGTGATCTCACCTCCAGTCCCTGGCCTGGACACTGGTCACATGTAGGGCCTGTTGATGTGAAGTGGGCAGGGAGACCATGGCTTGCCCGCCATTCCCCAAAATATTATTTCCATCATTCTTAAACCATCATCCCTCAGGCCAGACTTGAGGTGAGTCAGAGGCAGTAGCTGACCCTGACGGGGACAGGGCACATGGGTATCTGAAATCCCTTCATTAGCACTCAATTCCTCACCCAACCCCCAGCCACACGTGCCTGCCCAGCAGCAAGCTTCCAGTGCTCACACTGTAAGCTGTGGTCCCCCCAGGACCAGGCGGTAAGTGAGTTTTCCAGGTTCTTTCCAGTAAATTAAGAGCAGATTTTAATACATGGAGGGGAAGAGAGAATAAGAGGGCACTGGGTGTCTGGAACAGGGGCAGAAAACGTTGGGGCCCCCATACTTCTAGTCACTTAGATTCTCCCTCTAGACCTACGTTTTCTTGTCAGCAAGATCAGG
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TTTCAGGAGGCCAGGGGGACAGGCAGAAGCCTCAGGCAGGTCAGGCGAGGAGCCCAGGGGCAGCTGCCCGTCTGGGAGCCCCAAGGTGTAGGTGAGGGTATCTGCTCCTTGGGCCCCTGCTGGAGGGGTCTTGACCACTGGTTCCTGTTGCTGCTGTTGCCGCTGCTGCAGCTGTTTCTGCACTTCTGCATGCAGGCTGTCCCTCTGCTTCTTGGACATGCGGCCGAACTTGACAGCTGAAAGAGGTCCAGGGACCAGGGGTTTATGAGGCAGGAGAACATGGCACAGGGCAGGGTCAGGAGGCATTTGGTCATTAAAGGATTAACTTGCTGCTCTCTGAATGGCTGACTCCAAGCACAGCTTCTCTAGCCTTTAGGGAACTTATGCTCAAGACCCCGTCCACCTCTCACTCTTGTTTGCTTCTGGGGTCTGTCCAGTCTGCCATTTCAATCTGCTAAGCAAAATCTTCTAAGTTCTAAATCAGATTTGAATCATGGCAGAATTCAAGCAATGAGTCTAGGCTGGGGATTCTGGCCTCCAGATCTTGGGGCTGGGGGTGGTCGAGCAGAGGGCCTCAAGCTGTATTGGGGTCACCTCGCCTCTTTGGGAGGGTCGGAGGAAGAGGAGAGCTGAGAACACAGGTCTCCCTGTGGTCAGGCCTGCAGGCTCCCTGGTGACCTAGATACTCACCACAGCCCAACCCGGGCTCCGCGGCTTGTTTCTGAACATCCTCTTCTGCTCTCTCTTTCCTGCCTTTTTACTCCCCCCGCCACCCCTCCCAGGTGTAGGGGCACAGCCCCTCGCCCCGCCTGCCCCTTTGCACCCCTGCGTGCTTCCTTTTGCTTTGTTATTTTGGGCACTGAAAAGTGCTGACGGGCTCCTTCTGGCTCCTCATCACCTCATGCCCCCCCAGCTCCACCCTAGGCTCCTTCTGTGGTGGTGGAGGTGTGCAGGGAGACTGGTGAGGAGGTGGTGGGTGAGGAGGGTGGATAAGGCACCAGGAACACCAGCCCTCCCCCACGACCACCCTCTGGTTGTTCTCAGGCCAATTCTGTTTCCATTCCTGGCTATAGTCCTGTGTCCAAGTATGGGAATGGGGGATTAGAAAAGGAGATAGAGCTAGAACTACAACAACAGGGTAGCAGGGGAAGGTGCCAGAGCTGCATGGGAGCTGGGCCAGAGGGCAGCAGAGTGAGGAGAATTCGTTCCAAGTAAGAAGAGATGAAGAGGTATGGGACCTTGGAAAGAGGATGTTTGTTCTAGCAAAGCCTAAAGTTGGGGACTCCAAAGAACTTTGATGGGGGTGACCCATCCATCCCTGGAGGGGAGGAGACAAGGGGTTGTAACGGGGAGGAATGGAGAGGAGACCAGAGGATGGGCCGTCTTGCAGGTTAAGCCTTGTCTAGCTCAGCAGGCCAGGCTGCCCCTCTGGAGACACCAGGAAAACCCCAGGGGGCTGTCGACTTGGCCTCACCATCTCGGGACATGCCCAGCGCCAGGCATTTCTGCAGGCGGCAGTGCTGGCATCGGTTTCGGCTGGTGCGGTCGATGGGGCAGTTCTGCTGACGGGTGCAGGAGTAGGCCGCGTTACAGCGCTGGCTCCGGCGGAAGAAGCCCTGGGGAAAGCAGGTGGAGGGCAAGACTGCTTATCCTGGTCAGGCCCAGCTCACTCACAAAGGCCTCCAGCCCACAAGCTCTGGCAGCTTTTCTACATCCCACGACCTGTCAGTTTTCTCTCTCCTCCATCTATTTGTGTAATTGCAATTTATCCTGTAGTCATTTCCCCAGCTTAAGACAGGGCCCTGCCAGTGTTGAGGGCCCTGCAGGAAGGCGCTACTCAGGCATTTTCCTGGCTGCCCAGGAGATCATCCCTGGAGTCAGAACAAAGGCCATTAACCCCCTTGTTTATCTCTAAGGAGACACTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCTTGTGTATGCACACGCACACATGCATGCATACACATGCCTATGACTCACCTTGCACCCCTCACAGGTGATAACCCCGTAGTGGATCCCAGACAACTTGTCCCCACAGATTTTGCAAGGGATCACTTCAATTTGTGCTGGAAGAGAGAAAGAGAAGTAGGTCAGCCCAGGAGGCTTTTCTGCATTCAACCACCATGTACCTGGGCTGCAGATACAGGTACCTGGTGCTTCCACTACTTCTCCAACCAGCTCCAGCTTGCTGTTTCCCTCTTGCAAAATGGAAGGGGAAGTGAAATGCCAAATGCTTCTCAGCAAAGGGTGTGAGGAAGCTGTGTTTGTTTCACAGAGGAGGGGAGTGTGGAGGGGTGGCCGGGAGTTGTATCAGTGCTATGGAGGCAGAGAAAGCAGCTGCAGAGGGGCCACCTGCTCAGCCCTTCGAGTTGAAAAGCTCCAGTTGCCTCCCTCCCGCCTTGGGACATAGGACTCCTCACGGCCTCACAACACCTGCTTCCCGCCGAAGGGGCTTCCTCTGTGCCTCCCTCCCTCGCTGGGGCTCAGCTCCCATGGGCAAAGTGTAGGGTATAGCAGGAAGATGTGGTACACAAGGGGTGGGGGATAGGCAGAGATGCCAGTCCTTCCCAGCCAGACAGTGAAGGCTCAGGGAGGTGCTATACAGAGACAGGGTGAGGGGGTGGCAGGGAGGAACCCAGGAAACGGGGGCTCAACACCCCAGCTCTGCTGGATGCCTGAGAGCCTAGGGAAAGAATTAGCCAGGGCTCTTAGGCTCTTGGCCCCAGAGCAGAGAGAGGGTGGCTTTGTGTACATCCGTGTGTCTGAGTGTGAACACTTATGTTTGTACAAAGGCATCTGTATCCATTTGTGTGAACATGAATCATCAATGTTAAAAATGGCTGAGACTAGAGACCATCTCATTCAACCTCTTCATTTACCGATGAAGGACTAAGCCAGATGAGGCAAAGCGGTTGGGCCAGGGTCATAGGCTAGTTTGCCTGAGAGCTGGATCTACATCCCAGTTCCCCTGAGCTTTCCATTATGCTGTTCTGTGTACCTGTCTTTTCGGGTACACATTTCAGTGGGCATGTTTGAAGGTGTGCTTGTGGGTGTGCATATGCAAGAAAAGTATGTGTCATTTGTGAGCCTACGACATATCTGGTTGCTCCTGCGTCCACACGTGCATATTTGTATGTTAGTGTCTGCTCATGGGGCACTAGGACCCCGGGTTCTCTCTCCCACTGAACTCACTGTAACCTGTACCTGCTTCCCTACCCCTGTGGTTTGCTGCTGGCCCTAAGCTCATCTCTGCTTTGCCCTGTTCCTGTCAATGCCCACGACTCTCTGCTGAGCTTCATGGGACCACAGGAGGCCTTCTCCCAGCTCTTCCTTGAAAGGTAGCTGGGCAAAGCTTGGGATCCCTGGTTACTGTAGGTGTTTTTAGCATTTCCCAGAGCACATGGGTCTCTTTTCCACCATCACTGACCTGCTGCCTCCCCTCTGAGTGGGGAGCCCTGGGGCGGGACAGGCCAGAAAAGTGAAGAGAAGGGCCAAAGCCCCTTTTAATCTATGACGTGTCTCCCACCAAAGGGGCAAAAGAAGTGGCAGCCTCTCTGGAGGGCGAATGCACATTGCTGTGATCTCACCTCCAGTCCCTGGCCTGGACACTGGTCACATGTAGGGCCTGTTGATGTGAAGTGGGCAGGGAGACCATGGCTTGCCCGCCATTCCCCAAAATATTATTTCCATCATTCTTAAACCATCATCCCTCAGGCCAGACTTGAGGTGAGTCAGAGGCAGTAGCTGACCCTGACGGGGACAGGGCACATGGGTATCTGAAATCCCTTCATTAGCACTCAATTCCTCACCCAACCCCCAGCCACACGTGCCTGCCCAGCAGCAAGCTTCCAGTGCTCACACTGTAAGCTGTGGTCCCCCCAGGACCAGGCGGTAAGTGAGTTTTCCAGGTTCTTTCCAGTAAATTAAGAGCAGATTTTAATACATGGAGGGGAAGAGAGAATAAGAGGGCACTGGGTGTCTGGAACAGGGGCAGAAAACGTTGGGGCCCCCATACTTCTAGTCACTTAGATTCTCCCTCTAGACCTACGTTTTCTTGTCAGCAAGATCAGG
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Task1_train_1555
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A sequence alteration has been identified in GATAD2B (GATA zinc finger domain containing 2B) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; not provided
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TGGTATGGGAGAGACAAGTGAAACAGTGGTGAGAGGAAGATGAATAAGACAGAGAGATAGAATCATTAAATCAGCTTTGATTTTGAGGCTGCAGATTGTGCAGAAGCATCCCTGGATCATTCAAACAGAACAGTTAACCCTGCTGTCCCGGCCAAAAGAGATCAATAACCACATGTCTACTGAAGGGATATTAAAAGTTAAATTGATAATGGTAGGATCTGGGTCATTTTCACCACCAAAACCCTAGTGCATTGTGGGTGGCACTTAATATGAATTTAGCAAACATTTGCTGAGTAACAGAAGAGTGAGAGTGTATGCCCTAAAGAAAGAACAGAAAGTAAAGGAACAATTCCCTTAAAGGGGCTGCTACAGAACTGTATACTAACTAACAGCTGACCCATGAGAAACATTTTCAGATTAATCCTTCTTACCTGGCATACCAAGGAGGCCACCTGGCACAGACAACTGGGGTGCCTGTGCAAAGTTTGAAAGCATGGAGCGGGCAGATGTGGGTATGCCACGCTGGAGGCTGCTCTGGGGCTGTGGAGCCTGCAATGATGAGGAGACAGTGGATACAACTTTGATATGATAGAATGTTAAGCGGGGGCAAAGATAAGGGAGTACAGAAGAAGACTATGATTTCCCACAATAGAAAGGACAAATTGTGATAAATGGCTGATAAATCTTCTAAAGAAATCAGGATCAGGCAAAAAGTTCCTTACCTGCCGAAGCGTATGATGTCTCATGATGGTCTCTTGTTTACTGACACTGGACACAGCTGGAGCCGTAGTGGGGGAGAGGGCTGCCTGCTGCTGTAATCGCTGTTCAATTTCCTGTTGGGAGTCATCACATCAGGTGATTGAGCAGGACAGCACCCAATACCCAATTTCCTTTTTTTTTTTTTTTTTTAAACAGAGACACAATCTGACTTTGTTGCCCAGGCTGGTCTGGCACTCCTGGGCTCAAGCAATCCTCTCACCTTAGCCTCCCCAAAGTGCTGGGATTACAGGCATGAATCACTGCACCTGGCCCACCCAATTTCCTAACCAGAAAACCTGGAGGTGTTCTTACCTCTAATGTTGTTGGCTAGTTGGTGGAATATGGAAAAGGCAAAAGAGTTTGGTGGGGGTGGTACACTGAGATTTCTGGGTATAAGCAGCTAACTTGCTTCAATGATCAAGGGATCCTCCTCTCTTTCTCCAGGAAAGCTGGCTCTAAGAAGTTGGCTGGAGGTGATGAACCAACTGATATAATTAAGGCTGATGAATTACTGGGGTTTTATTTTATCACTTTTTCTTTTCTCTTTTTAAAAATTTTTATTTATTTATTTTTTACCACCAGTCCTAGAGCATAAATGGGGTTTTATTTTTGACTCCTGCCTACCCGATCTTCCAAAAAGTCCATGATGCTACTCAAACAAGGGACTCTGATGGGTGGAGTGGGAAATAGGAAGAAAAGGATCTGAGTTTCCCAACACATTTTTCCTTCTCTAAGATATTCTCATCCTATAACTGCTACATGAGATGTTCACATACTCTAGAACCACTACTCTTCACTGGGCTACTTCATAATTCACTCTTTCTTTCGTCATTTCTTATCAAACACGCACTGCAAATAACTGTTTCAAAGAGATTTATAGCACAAATATAAATTCCTCCCACCAAAATCTATTATTTGTTTTAGGAAAAAATGAAGATGAGAATAGAGTGCTATGGAAAAGCCAAGAGTCCCAAGCTTTCTGTCCCTTTCTGTTAACCTCAGCCATTATATTTTACCATGTTCTTAATCAGAATACTCGCTCAAATGGAAATAGGACACAATGATAAGGAGACAAAAAGGGAACCTGTGGACCTGTAGGGATCACATGAACCACTCCTGCAAACTAGAAGGCGCGACCCTTTGGAAAAAACAAACTGGGACAGGTGGCCAGTGAGCAGTCAGAATTCTTACCTGTTCCTGCTGTAGGGCTTTCACAAATGCATTTTTCAGCCGGTTGGTGTGTTCAGCTTTTAGAGCCTTTTTCTGGTTGGAGGTCATACACTGCTCACATAGAATCTTACCATTCTTTTCTTGCTTCCAGTGAGGGGTGAAATCTGTGCGGCACTGGGCACATACAAAGGGTTCAACCCGCAGAAGTGAGGCACAGCTTTTGCCTAGATACCAACAAAAATAGTCAGTGGCTTTACATTTCCTATCTCCTCTGTTTCTCTTAATCAAATAGATCTTTTCCAGGAGTTTATTCTGTTGAATTAAAGAAAGAGACTTTACAAAAAGGATATTCTATAATTTACAAAATACTTTTATTTCATCTGATTATAACAGTATCACTTTAGGGAATTCAGACAGTACCATCCTCATTTACAAATGAGGACAGAAGTCGAAGAAATGTAGCTTCTGGCTGGGTGCGGTGGCTCACCCCTACAGTCCCAGCACTTTGGGAGGCTGAGGTGGACGGCTAACGAGGTCAGGAGTTCAAGAACAGCCTGACCAACATAGTGAAAACCCGTCTTTACTAAAAATACAAAAAAATTAGGCGGGCGTGGTGGCACGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGCCGAAATTGTGCCAGTGCACTCCAGCCTGGGTAACAGAACAAGACTCAGTCTCAAACAACAACAACAACAACAAAGGTAGCTTCTAACTGATAAAGCTGGGATGTTTCCTGATTTTCTACTGTATCACACTGAGAAGAAAATACTGTGTCAATTCAAAGTCAAAGGACTCTAACTCAACCAATACTTTTGCTTCTTAATATCTCCTTACCAAAGACTGTACTTATCCCTGTCATATACATTTATAGTTTTAAATAGTTATCAGTGTCTGAATTATTCACTTTGTGATCTATTTATAGCTAATACTGACTCCTCTGGGCACTTTACTGGCAGGCTTTCCCAGAAGTCTACCTGTTTAGAAATTCAAGTTTAATAACTTCAGTTAGTCTAGACTGTATGTTGTTAATACTCTATAGTATGGTTTAGTATTGGTTTACAGCTTTTTATAAGGTCTTTCTTAGTTATCTATGTAAGTGTGTGTTTCTCAACTGTAAGCATTCACAGAAGACTAAACACAGTAATTCAGTACAATGTTGCAAAAACACTCACATTAAAAACAGAAGTTCCAGGCCAGGCATGGTGGCTCACACCTGTGATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCCACATAGCAAAACCCTATCTCTACTAAAAACAGAAATAATTAGCTAGGTGTGATGGCACACATCTGTAATTCCAGCTACTTTGGAAGCTGAGACAAAAGAATTGCTTGCGCCGGGCACAGTGGCTCATGCCTGTAACCACAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGTGAAACCCCGTCTCTAAGAAAAACACAAAAATTGGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAATATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTCTAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAGAATTGCTTGAAACCAAGAGGCAGAGGTAGTCAGCCAGCTAAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCAACAAAGAAAAAAACTGGCATGGTGGTGCATACCAGTGGTCCCAGTTACTCAGGAGGCTGAAATGGGAGGATGGCTTGAGCCTGGGAGGTCAAGGCTGCAGAGAGCTGAGATCACACCACTGCACTCAAGCCTGGACAACAGGGTCAGACCCTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAAAAAAAAGAAAAGAGAAGTTCTATTTATCAAATTATGCAAGCATCATGCTAGCCACCATTTAAAAGAACTAAACAAAATACAGTCAGTCCTCAAT
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TGGTATGGGAGAGACAAGTGAAACAGTGGTGAGAGGAAGATGAATAAGACAGAGAGATAGAATCATTAAATCAGCTTTGATTTTGAGGCTGCAGATTGTGCAGAAGCATCCCTGGATCATTCAAACAGAACAGTTAACCCTGCTGTCCCGGCCAAAAGAGATCAATAACCACATGTCTACTGAAGGGATATTAAAAGTTAAATTGATAATGGTAGGATCTGGGTCATTTTCACCACCAAAACCCTAGTGCATTGTGGGTGGCACTTAATATGAATTTAGCAAACATTTGCTGAGTAACAGAAGAGTGAGAGTGTATGCCCTAAAGAAAGAACAGAAAGTAAAGGAACAATTCCCTTAAAGGGGCTGCTACAGAACTGTATACTAACTAACAGCTGACCCATGAGAAACATTTTCAGATTAATCCTTCTTACCTGGCATACCAAGGAGGCCACCTGGCACAGACAACTGGGGTGCCTGTGCAAAGTTTGAAAGCATGGAGCGGGCAGATGTGGGTATGCCACGCTGGAGGCTGCTCTGGGGCTGTGGAGCCTGCAATGATGAGGAGACAGTGGATACAACTTTGATATGATAGAATGTTAAGCGGGGGCAAAGATAAGGGAGTACAGAAGAAGACTATGATTTCCCACAATAGAAAGGACAAATTGTGATAAATGGCTGATAAATCTTCTAAAGAAATCAGGATCAGGCAAAAAGTTCCTTACCTGCCGAAGCGTATGATGTCTCATGATGGTCTCTTGTTTACTGACACTGGACACAGCTGGAGCCGTAGTGGGGGAGAGGGCTGCCTGCTGCTGTAATCGCTGTTCAATTTCCTGTTGGGAGTCATCACATCAGGTGATTGAGCAGGACAGCACCCAATACCCAATTTCCTTTTTTTTTTTTTTTTTTAAACAGAGACACAATCTGACTTTGTTGCCCAGGCTGGTCTGGCACTCCTGGGCTCAAGCAATCCTCTCACCTTAGCCTCCCCAAAGTGCTGGGATTACAGGCATGAATCACTGCACCTGGCCCACCCAATTTCCTAACCAGAAAACCTGGAGGTGTTCTTACCTCTAATGTTGTTGGCTAGTTGGTGGAATATGGAAAAGGCAAAAGAGTTTGGTGGGGGTGGTACACTGAGATTTCTGGGTATAAGCAGCTAACTTGCTTCAATGATCAAGGGATCCTCCTCTCTTTCTCCAGGAAAGCTGGCTCTAAGAAGTTGGCTGGAGGTGATGAACCAACTGATATAATTAAGGCTGATGAATTACTGGGGTTTTATTTTATCACTTTTTCTTTTCTCTTTTTAAAAATTTTTATTTATTTATTTTTTACCACCAGTCCTAGAGCATAAATGGGGTTTTATTTTTGACTCCTGCCTACCCGATCTTCCAAAAAGTCCATGATGCTACTCAAACAAGGGACTCTGATGGGTGGAGTGGGAAATAGGAAGAAAAGGATCTGAGTTTCCCAACACATTTTTCCTTCTCTAAGATATTCTCATCCTATAACTGCTACATGAGATGTTCACATACTCTAGAACCACTACTCTTCACTGGGCTACTTCATAATTCACTCTTTCTTTCGTCATTTCTTATCAAACACGCACTGCAAATAACTGTTTCAAAGAGATTTATAGCACAAATATAAATTCCTCCCACCAAAATCTATTATTTGTTTTAGGAAAAAATGAAGATGAGAATAGAGTGCTATGGAAAAGCCAAGAGTCCCAAGCTTTCTGTCCCTTTCTGTTAACCTCAGCCATTATATTTTACCATGTTCTTAATCAGAATACTCGCTCAAATGGAAATAGGACACAATGATAAGGAGACAAAAAGGGAACCTGTGGACCTGTAGGGATCACATGAACCACTCCTGCAAACTAGAAGGCGCGACCCTTTGGAAAAAACAAACTGGGACAGGTGGCCAGTGAGCAGTCAGAATTCTTACCTGTTCCTGCTGTAGGGCTTTCACAAATGCATTTTTCAGCCGGTTGGTGTGTTCAGCTTTTAGAGCCTTTTTCTGGTTGGAGGTCATACACTGCTCACGTAGAATCTTACCATTCTTTTCTTGCTTCCAGTGAGGGGTGAAATCTGTGCGGCACTGGGCACATACAAAGGGTTCAACCCGCAGAAGTGAGGCACAGCTTTTGCCTAGATACCAACAAAAATAGTCAGTGGCTTTACATTTCCTATCTCCTCTGTTTCTCTTAATCAAATAGATCTTTTCCAGGAGTTTATTCTGTTGAATTAAAGAAAGAGACTTTACAAAAAGGATATTCTATAATTTACAAAATACTTTTATTTCATCTGATTATAACAGTATCACTTTAGGGAATTCAGACAGTACCATCCTCATTTACAAATGAGGACAGAAGTCGAAGAAATGTAGCTTCTGGCTGGGTGCGGTGGCTCACCCCTACAGTCCCAGCACTTTGGGAGGCTGAGGTGGACGGCTAACGAGGTCAGGAGTTCAAGAACAGCCTGACCAACATAGTGAAAACCCGTCTTTACTAAAAATACAAAAAAATTAGGCGGGCGTGGTGGCACGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGCCGAAATTGTGCCAGTGCACTCCAGCCTGGGTAACAGAACAAGACTCAGTCTCAAACAACAACAACAACAACAAAGGTAGCTTCTAACTGATAAAGCTGGGATGTTTCCTGATTTTCTACTGTATCACACTGAGAAGAAAATACTGTGTCAATTCAAAGTCAAAGGACTCTAACTCAACCAATACTTTTGCTTCTTAATATCTCCTTACCAAAGACTGTACTTATCCCTGTCATATACATTTATAGTTTTAAATAGTTATCAGTGTCTGAATTATTCACTTTGTGATCTATTTATAGCTAATACTGACTCCTCTGGGCACTTTACTGGCAGGCTTTCCCAGAAGTCTACCTGTTTAGAAATTCAAGTTTAATAACTTCAGTTAGTCTAGACTGTATGTTGTTAATACTCTATAGTATGGTTTAGTATTGGTTTACAGCTTTTTATAAGGTCTTTCTTAGTTATCTATGTAAGTGTGTGTTTCTCAACTGTAAGCATTCACAGAAGACTAAACACAGTAATTCAGTACAATGTTGCAAAAACACTCACATTAAAAACAGAAGTTCCAGGCCAGGCATGGTGGCTCACACCTGTGATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCCACATAGCAAAACCCTATCTCTACTAAAAACAGAAATAATTAGCTAGGTGTGATGGCACACATCTGTAATTCCAGCTACTTTGGAAGCTGAGACAAAAGAATTGCTTGCGCCGGGCACAGTGGCTCATGCCTGTAACCACAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGTGAAACCCCGTCTCTAAGAAAAACACAAAAATTGGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAATATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTCTAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAGAATTGCTTGAAACCAAGAGGCAGAGGTAGTCAGCCAGCTAAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCAACAAAGAAAAAAACTGGCATGGTGGTGCATACCAGTGGTCCCAGTTACTCAGGAGGCTGAAATGGGAGGATGGCTTGAGCCTGGGAGGTCAAGGCTGCAGAGAGCTGAGATCACACCACTGCACTCAAGCCTGGACAACAGGGTCAGACCCTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAAAAAAAAGAAAAGAGAAGTTCTATTTATCAAATTATGCAAGCATCATGCTAGCCACCATTTAAAAGAACTAAACAAAATACAGTCAGTCCTCAAT
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Task1_train_1556
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A mutation in GATAD2B (GATA zinc finger domain containing 2B), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
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CATTAAATCAGCTTTGATTTTGAGGCTGCAGATTGTGCAGAAGCATCCCTGGATCATTCAAACAGAACAGTTAACCCTGCTGTCCCGGCCAAAAGAGATCAATAACCACATGTCTACTGAAGGGATATTAAAAGTTAAATTGATAATGGTAGGATCTGGGTCATTTTCACCACCAAAACCCTAGTGCATTGTGGGTGGCACTTAATATGAATTTAGCAAACATTTGCTGAGTAACAGAAGAGTGAGAGTGTATGCCCTAAAGAAAGAACAGAAAGTAAAGGAACAATTCCCTTAAAGGGGCTGCTACAGAACTGTATACTAACTAACAGCTGACCCATGAGAAACATTTTCAGATTAATCCTTCTTACCTGGCATACCAAGGAGGCCACCTGGCACAGACAACTGGGGTGCCTGTGCAAAGTTTGAAAGCATGGAGCGGGCAGATGTGGGTATGCCACGCTGGAGGCTGCTCTGGGGCTGTGGAGCCTGCAATGATGAGGAGACAGTGGATACAACTTTGATATGATAGAATGTTAAGCGGGGGCAAAGATAAGGGAGTACAGAAGAAGACTATGATTTCCCACAATAGAAAGGACAAATTGTGATAAATGGCTGATAAATCTTCTAAAGAAATCAGGATCAGGCAAAAAGTTCCTTACCTGCCGAAGCGTATGATGTCTCATGATGGTCTCTTGTTTACTGACACTGGACACAGCTGGAGCCGTAGTGGGGGAGAGGGCTGCCTGCTGCTGTAATCGCTGTTCAATTTCCTGTTGGGAGTCATCACATCAGGTGATTGAGCAGGACAGCACCCAATACCCAATTTCCTTTTTTTTTTTTTTTTTTAAACAGAGACACAATCTGACTTTGTTGCCCAGGCTGGTCTGGCACTCCTGGGCTCAAGCAATCCTCTCACCTTAGCCTCCCCAAAGTGCTGGGATTACAGGCATGAATCACTGCACCTGGCCCACCCAATTTCCTAACCAGAAAACCTGGAGGTGTTCTTACCTCTAATGTTGTTGGCTAGTTGGTGGAATATGGAAAAGGCAAAAGAGTTTGGTGGGGGTGGTACACTGAGATTTCTGGGTATAAGCAGCTAACTTGCTTCAATGATCAAGGGATCCTCCTCTCTTTCTCCAGGAAAGCTGGCTCTAAGAAGTTGGCTGGAGGTGATGAACCAACTGATATAATTAAGGCTGATGAATTACTGGGGTTTTATTTTATCACTTTTTCTTTTCTCTTTTTAAAAATTTTTATTTATTTATTTTTTACCACCAGTCCTAGAGCATAAATGGGGTTTTATTTTTGACTCCTGCCTACCCGATCTTCCAAAAAGTCCATGATGCTACTCAAACAAGGGACTCTGATGGGTGGAGTGGGAAATAGGAAGAAAAGGATCTGAGTTTCCCAACACATTTTTCCTTCTCTAAGATATTCTCATCCTATAACTGCTACATGAGATGTTCACATACTCTAGAACCACTACTCTTCACTGGGCTACTTCATAATTCACTCTTTCTTTCGTCATTTCTTATCAAACACGCACTGCAAATAACTGTTTCAAAGAGATTTATAGCACAAATATAAATTCCTCCCACCAAAATCTATTATTTGTTTTAGGAAAAAATGAAGATGAGAATAGAGTGCTATGGAAAAGCCAAGAGTCCCAAGCTTTCTGTCCCTTTCTGTTAACCTCAGCCATTATATTTTACCATGTTCTTAATCAGAATACTCGCTCAAATGGAAATAGGACACAATGATAAGGAGACAAAAAGGGAACCTGTGGACCTGTAGGGATCACATGAACCACTCCTGCAAACTAGAAGGCGCGACCCTTTGGAAAAAACAAACTGGGACAGGTGGCCAGTGAGCAGTCAGAATTCTTACCTGTTCCTGCTGTAGGGCTTTCACAAATGCATTTTTCAGCCGGTTGGTGTGTTCAGCTTTTAGAGCCTTTTTCTGGTTGGAGGTCATACACTGCTCACATAGAATCTTACCATTCTTTTCTTGCTTCCAGTGAGGGGTGAAATCTGTGCGGCACTGGGCACATACAAAGGGTTCAACCCGCAGAAGTGAGGCACAGCTTTTGCCTAGATACCAACAAAAATAGTCAGTGGCTTTACATTTCCTATCTCCTCTGTTTCTCTTAATCAAATAGATCTTTTCCAGGAGTTTATTCTGTTGAATTAAAGAAAGAGACTTTACAAAAAGGATATTCTATAATTTACAAAATACTTTTATTTCATCTGATTATAACAGTATCACTTTAGGGAATTCAGACAGTACCATCCTCATTTACAAATGAGGACAGAAGTCGAAGAAATGTAGCTTCTGGCTGGGTGCGGTGGCTCACCCCTACAGTCCCAGCACTTTGGGAGGCTGAGGTGGACGGCTAACGAGGTCAGGAGTTCAAGAACAGCCTGACCAACATAGTGAAAACCCGTCTTTACTAAAAATACAAAAAAATTAGGCGGGCGTGGTGGCACGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGCCGAAATTGTGCCAGTGCACTCCAGCCTGGGTAACAGAACAAGACTCAGTCTCAAACAACAACAACAACAACAAAGGTAGCTTCTAACTGATAAAGCTGGGATGTTTCCTGATTTTCTACTGTATCACACTGAGAAGAAAATACTGTGTCAATTCAAAGTCAAAGGACTCTAACTCAACCAATACTTTTGCTTCTTAATATCTCCTTACCAAAGACTGTACTTATCCCTGTCATATACATTTATAGTTTTAAATAGTTATCAGTGTCTGAATTATTCACTTTGTGATCTATTTATAGCTAATACTGACTCCTCTGGGCACTTTACTGGCAGGCTTTCCCAGAAGTCTACCTGTTTAGAAATTCAAGTTTAATAACTTCAGTTAGTCTAGACTGTATGTTGTTAATACTCTATAGTATGGTTTAGTATTGGTTTACAGCTTTTTATAAGGTCTTTCTTAGTTATCTATGTAAGTGTGTGTTTCTCAACTGTAAGCATTCACAGAAGACTAAACACAGTAATTCAGTACAATGTTGCAAAAACACTCACATTAAAAACAGAAGTTCCAGGCCAGGCATGGTGGCTCACACCTGTGATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCCACATAGCAAAACCCTATCTCTACTAAAAACAGAAATAATTAGCTAGGTGTGATGGCACACATCTGTAATTCCAGCTACTTTGGAAGCTGAGACAAAAGAATTGCTTGCGCCGGGCACAGTGGCTCATGCCTGTAACCACAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGTGAAACCCCGTCTCTAAGAAAAACACAAAAATTGGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAATATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTCTAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAGAATTGCTTGAAACCAAGAGGCAGAGGTAGTCAGCCAGCTAAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCAACAAAGAAAAAAACTGGCATGGTGGTGCATACCAGTGGTCCCAGTTACTCAGGAGGCTGAAATGGGAGGATGGCTTGAGCCTGGGAGGTCAAGGCTGCAGAGAGCTGAGATCACACCACTGCACTCAAGCCTGGACAACAGGGTCAGACCCTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAAAAAAAAGAAAAGAGAAGTTCTATTTATCAAATTATGCAAGCATCATGCTAGCCACCATTTAAAAGAACTAAACAAAATACAGTCAGTCCTCAATGTTGTTGACAGGTTCTCAGAGACTATGATTTAAGTGAAACAACATACAACAAAAACAATCTTT
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CATTAAATCAGCTTTGATTTTGAGGCTGCAGATTGTGCAGAAGCATCCCTGGATCATTCAAACAGAACAGTTAACCCTGCTGTCCCGGCCAAAAGAGATCAATAACCACATGTCTACTGAAGGGATATTAAAAGTTAAATTGATAATGGTAGGATCTGGGTCATTTTCACCACCAAAACCCTAGTGCATTGTGGGTGGCACTTAATATGAATTTAGCAAACATTTGCTGAGTAACAGAAGAGTGAGAGTGTATGCCCTAAAGAAAGAACAGAAAGTAAAGGAACAATTCCCTTAAAGGGGCTGCTACAGAACTGTATACTAACTAACAGCTGACCCATGAGAAACATTTTCAGATTAATCCTTCTTACCTGGCATACCAAGGAGGCCACCTGGCACAGACAACTGGGGTGCCTGTGCAAAGTTTGAAAGCATGGAGCGGGCAGATGTGGGTATGCCACGCTGGAGGCTGCTCTGGGGCTGTGGAGCCTGCAATGATGAGGAGACAGTGGATACAACTTTGATATGATAGAATGTTAAGCGGGGGCAAAGATAAGGGAGTACAGAAGAAGACTATGATTTCCCACAATAGAAAGGACAAATTGTGATAAATGGCTGATAAATCTTCTAAAGAAATCAGGATCAGGCAAAAAGTTCCTTACCTGCCGAAGCGTATGATGTCTCATGATGGTCTCTTGTTTACTGACACTGGACACAGCTGGAGCCGTAGTGGGGGAGAGGGCTGCCTGCTGCTGTAATCGCTGTTCAATTTCCTGTTGGGAGTCATCACATCAGGTGATTGAGCAGGACAGCACCCAATACCCAATTTCCTTTTTTTTTTTTTTTTTTAAACAGAGACACAATCTGACTTTGTTGCCCAGGCTGGTCTGGCACTCCTGGGCTCAAGCAATCCTCTCACCTTAGCCTCCCCAAAGTGCTGGGATTACAGGCATGAATCACTGCACCTGGCCCACCCAATTTCCTAACCAGAAAACCTGGAGGTGTTCTTACCTCTAATGTTGTTGGCTAGTTGGTGGAATATGGAAAAGGCAAAAGAGTTTGGTGGGGGTGGTACACTGAGATTTCTGGGTATAAGCAGCTAACTTGCTTCAATGATCAAGGGATCCTCCTCTCTTTCTCCAGGAAAGCTGGCTCTAAGAAGTTGGCTGGAGGTGATGAACCAACTGATATAATTAAGGCTGATGAATTACTGGGGTTTTATTTTATCACTTTTTCTTTTCTCTTTTTAAAAATTTTTATTTATTTATTTTTTACCACCAGTCCTAGAGCATAAATGGGGTTTTATTTTTGACTCCTGCCTACCCGATCTTCCAAAAAGTCCATGATGCTACTCAAACAAGGGACTCTGATGGGTGGAGTGGGAAATAGGAAGAAAAGGATCTGAGTTTCCCAACACATTTTTCCTTCTCTAAGATATTCTCATCCTATAACTGCTACATGAGATGTTCACATACTCTAGAACCACTACTCTTCACTGGGCTACTTCATAATTCACTCTTTCTTTCGTCATTTCTTATCAAACACGCACTGCAAATAACTGTTTCAAAGAGATTTATAGCACAAATATAAATTCCTCCCACCAAAATCTATTATTTGTTTTAGGAAAAAATGAAGATGAGAATAGAGTGCTATGGAAAAGCCAAGAGTCCCAAGCTTTCTGTCCCTTTCTGTTAACCTCAGCCATTATATTTTACCATGTTCTTAATCAGAATACTCGCTCAAATGGAAATAGGACACAATGATAAGGAGACAAAAAGGGAACCTGTGGACCTGTAGGGATCACATGAACCACTCCTGCAAACTAGAAGGCGCGACCCTTTGGAAAAAACAAACTGGGACAGGTGGCCAGTGAGCAGTCAGAATTCTTACCTGTTCCTGCTGTAGGGCTTTCACAAATGCATTTTTCAGCCGGTTGGTGTGTTCAGCTTTTAGAGCCTTTTTCTGGTTGGAGGTCATACACTGCTCACATAGAATCTTACCATTCTTTTCTTGCTTCCAGTGAGGGGTGAAATCTGTGCGGCACTGGGCACGTACAAAGGGTTCAACCCGCAGAAGTGAGGCACAGCTTTTGCCTAGATACCAACAAAAATAGTCAGTGGCTTTACATTTCCTATCTCCTCTGTTTCTCTTAATCAAATAGATCTTTTCCAGGAGTTTATTCTGTTGAATTAAAGAAAGAGACTTTACAAAAAGGATATTCTATAATTTACAAAATACTTTTATTTCATCTGATTATAACAGTATCACTTTAGGGAATTCAGACAGTACCATCCTCATTTACAAATGAGGACAGAAGTCGAAGAAATGTAGCTTCTGGCTGGGTGCGGTGGCTCACCCCTACAGTCCCAGCACTTTGGGAGGCTGAGGTGGACGGCTAACGAGGTCAGGAGTTCAAGAACAGCCTGACCAACATAGTGAAAACCCGTCTTTACTAAAAATACAAAAAAATTAGGCGGGCGTGGTGGCACGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGCCGAAATTGTGCCAGTGCACTCCAGCCTGGGTAACAGAACAAGACTCAGTCTCAAACAACAACAACAACAACAAAGGTAGCTTCTAACTGATAAAGCTGGGATGTTTCCTGATTTTCTACTGTATCACACTGAGAAGAAAATACTGTGTCAATTCAAAGTCAAAGGACTCTAACTCAACCAATACTTTTGCTTCTTAATATCTCCTTACCAAAGACTGTACTTATCCCTGTCATATACATTTATAGTTTTAAATAGTTATCAGTGTCTGAATTATTCACTTTGTGATCTATTTATAGCTAATACTGACTCCTCTGGGCACTTTACTGGCAGGCTTTCCCAGAAGTCTACCTGTTTAGAAATTCAAGTTTAATAACTTCAGTTAGTCTAGACTGTATGTTGTTAATACTCTATAGTATGGTTTAGTATTGGTTTACAGCTTTTTATAAGGTCTTTCTTAGTTATCTATGTAAGTGTGTGTTTCTCAACTGTAAGCATTCACAGAAGACTAAACACAGTAATTCAGTACAATGTTGCAAAAACACTCACATTAAAAACAGAAGTTCCAGGCCAGGCATGGTGGCTCACACCTGTGATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCCACATAGCAAAACCCTATCTCTACTAAAAACAGAAATAATTAGCTAGGTGTGATGGCACACATCTGTAATTCCAGCTACTTTGGAAGCTGAGACAAAAGAATTGCTTGCGCCGGGCACAGTGGCTCATGCCTGTAACCACAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGTGAAACCCCGTCTCTAAGAAAAACACAAAAATTGGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAATATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTCTAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAGAATTGCTTGAAACCAAGAGGCAGAGGTAGTCAGCCAGCTAAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCAACAAAGAAAAAAACTGGCATGGTGGTGCATACCAGTGGTCCCAGTTACTCAGGAGGCTGAAATGGGAGGATGGCTTGAGCCTGGGAGGTCAAGGCTGCAGAGAGCTGAGATCACACCACTGCACTCAAGCCTGGACAACAGGGTCAGACCCTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAAAAAAAAGAAAAGAGAAGTTCTATTTATCAAATTATGCAAGCATCATGCTAGCCACCATTTAAAAGAACTAAACAAAATACAGTCAGTCCTCAATGTTGTTGACAGGTTCTCAGAGACTATGATTTAAGTGAAACAACATACAACAAAAACAATCTTT
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Task1_train_1557
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A sequence alteration has been identified in GATAD2B (GATA zinc finger domain containing 2B) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
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AGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTCTGTCTCAGTTTCTTTAACAGGACCAGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTATTTATATCCAAAGAGTAAATAGTCAAAAAACAGAACTAAATCTCTTGAGGAATTAAATAAAATAGAAGGAGCATAACAAGAAGAAAGAAATTTTTCTTTCTTTTTACCTTAAACATCTCTAAGTTGGCTGCTTTGAGTCTTTCTTCCATTCTGGAACTGGAACGGGGACTGGAAGCCTCATTGTCAGACAAAACAATGATGTCTGGTGAGGGAGTTAGCCTTCCTCGCTCTGGCTCACTAGACAAGAAAGGGAAAAAATAAGCTATTTCCAACAAAAGTTAAGAAAACTTCTATGCTGAATTAAAAAAATCCAAGGGGGGCCGGGTGCGGTGGCTCACTCCTGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTGGAACACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCGACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATTAGCTGCGCATGGCGGCGCGCACCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGGTTCCCGTCTCAAAAAAAAAAAAAAAAAAGAATAGTCTATCCTGTCAAGAGTAGGTACTGAAGAGTACACAAAAGAAGGAAGTATTAATAATTTGAGGGAATAGTGCCAAGAATATTGTCTACAGCCTTACAGAAAAGGATTAAACCTCCAGAACCAAATATATTGAACTTGCATCTACTTACCAGAGTTTTATCCAGCATCTTACCTCAAAAAGAGTCTAGAAATTACTTTGAAATCTAAATCTCCTGCACTGACTCCTCTTACTCCTAATCCTATTTACTAGATAACTCTCATTTAGGTCATTCTGGGGTTAGCCTTAAAAGCATCATGCTTATTTGTGTAAGATGATAAAAAATGGCACATACTGCTTAAGACCTAGGTAACAAGAATTCCGGAAACTCTAACTGCCTCAGGTTCCCAAATCCGTGACTGTATCTTCTAATTCTCCTCTAATTTCAAAGATACATTCCCAGATCCTACTTTCCTTGAGATTGTCAGCGTAGTTGGTAGTATATAGGTCGAGGGCAATTGTTCTTTGGTCCTTTTTTTTTTCCCTCTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGCCCGATCACAGCTCACTGCAGCCTTGACCTCCTGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGTGCCGCTACGCCCGGCTAATTTTTGTACTTTTTGTAGAGACAGGGTCTTACTATGTTGCCCAAGCTGGTCTTAAGCGACCCTCCCGCCTTGGCCTCCCCTTTGGCCTTAAACAATCAAC
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AGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTCTGTCTCAGTTTCTTTAACAGGACCGGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTATTTATATCCAAAGAGTAAATAGTCAAAAAACAGAACTAAATCTCTTGAGGAATTAAATAAAATAGAAGGAGCATAACAAGAAGAAAGAAATTTTTCTTTCTTTTTACCTTAAACATCTCTAAGTTGGCTGCTTTGAGTCTTTCTTCCATTCTGGAACTGGAACGGGGACTGGAAGCCTCATTGTCAGACAAAACAATGATGTCTGGTGAGGGAGTTAGCCTTCCTCGCTCTGGCTCACTAGACAAGAAAGGGAAAAAATAAGCTATTTCCAACAAAAGTTAAGAAAACTTCTATGCTGAATTAAAAAAATCCAAGGGGGGCCGGGTGCGGTGGCTCACTCCTGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTGGAACACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCGACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATTAGCTGCGCATGGCGGCGCGCACCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGGTTCCCGTCTCAAAAAAAAAAAAAAAAAAGAATAGTCTATCCTGTCAAGAGTAGGTACTGAAGAGTACACAAAAGAAGGAAGTATTAATAATTTGAGGGAATAGTGCCAAGAATATTGTCTACAGCCTTACAGAAAAGGATTAAACCTCCAGAACCAAATATATTGAACTTGCATCTACTTACCAGAGTTTTATCCAGCATCTTACCTCAAAAAGAGTCTAGAAATTACTTTGAAATCTAAATCTCCTGCACTGACTCCTCTTACTCCTAATCCTATTTACTAGATAACTCTCATTTAGGTCATTCTGGGGTTAGCCTTAAAAGCATCATGCTTATTTGTGTAAGATGATAAAAAATGGCACATACTGCTTAAGACCTAGGTAACAAGAATTCCGGAAACTCTAACTGCCTCAGGTTCCCAAATCCGTGACTGTATCTTCTAATTCTCCTCTAATTTCAAAGATACATTCCCAGATCCTACTTTCCTTGAGATTGTCAGCGTAGTTGGTAGTATATAGGTCGAGGGCAATTGTTCTTTGGTCCTTTTTTTTTTCCCTCTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGCCCGATCACAGCTCACTGCAGCCTTGACCTCCTGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGTGCCGCTACGCCCGGCTAATTTTTGTACTTTTTGTAGAGACAGGGTCTTACTATGTTGCCCAAGCTGGTCTTAAGCGACCCTCCCGCCTTGGCCTCCCCTTTGGCCTTAAACAATCAAC
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Task1_train_1558
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This variant lies on Chromosome 1 and affects the gene TPM3 (tropomyosin 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Congenital myopathy with fiber type disproportion
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AGTTGTATGGATTCTACCTCTAGCAGTATCCCTTCTGAGAAGACTAAATTTGAGAAGCAAATAGAAAAATCACAGTATAATGAAGAAACTATGAATACAAAATATAAAAATTACAAGTCAGTCAGGGTTCTCCTTCTGATCCAAGATTAATTGCCTCCAGAGCTTTTTTTTCTTAGACAGTCTTGCTCTTCAACCCAGACTGGAGTGCAGTGGCATTATCTCGGCTCACTGCAACCTCCATCTCCTGGTTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGTTGGGATTATAGACATGCGCCACCAAGCCCAACTAATTTTTTAAATATTTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCGAGTCATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACTACGCCCAGCCTTTAATGTTTTTCTTTTTTTTTTTTTTTGAGATGGGGTCTCACTCTGTTGCCCAGGCTGAAATGCAGTGGCACATCTTGGCTCACTGTAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTGGCTCAGCCTCCTGAGTAGCTAGGATTACAGGTGCACTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCACGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGCCTCCAAAGCTTTTGCCAAACAAATAACCAGCACCAATGTTTCAAAGATAAGGGTGGAGATTCTAGTTTCCAAAGGATAAAACCAAAGCACACCACTATGCATAGCTTGTACCCCCATCCACCCACAAGCCAAGATCCCAGCCCCACTCTACTGTCAGATAGTTACATAGAGGTCATGTCATTGAGGGCGTGGTCCAGCTCCTCGCTAATGGCCTTGTACTTCAGTTTCTGGGCATAGAGCTCATCTGGACAGGCACAGGAACCACAGGGAGGAATGAGGGGACAGAGTGAAGAGTTTCAGAAGCAGATGAAGAGAGGGAATCATTAGAAATTAGGAAAGTGTGACTGTGGGTCTAATACCACAGTTAGGAAAATATCTACTCTGGCAACCATGACTGGACATTTTCAGATCTACTCTCTCCTATGACCAACTTCCTTTCTTGATACTCCAAATCGACTGCAGCAAGGGCTGAGAACCTGGGCACAGTCATAACTAGAAATTCCTATTACCAAAAGCACTCAAGAGGATACCACTCCCATCCAGGTACCCAATTCCTAGCAGTGATAACACTTAATTGAACAAAAATAGCAAAGGGAGAGAGTATATATCCATATTCAGACACTTCTCTGCCTACAAAATGTGAACCTATTAGTGGCCCCTCTGCTCCACAGGCTGCCCCTGCAACTCTGCCAAGAGAGTGTACCAAAGGAGCATACATCAGAGTTCTCAAAGCAAAGAGTACGTTCCCTTGTCAGGGTGGATGGCAGTTACCAACTTGCAGGGACAGAAAGTATTTAGAAAGCTCCTGACATTGGTCAATGTTCAGATATGGTTATTCCACAACTTCATTTATTGGATAAATACCCGACAACTTGAGTGGCAAAAAGAACTGTGGAAAGTAGCCATGAAATGACATACATCTTGCCCTTCTGAAATCATGGCTTCCATTTAAACCCACAGACTAAAGGTTTAAGACTAATAAATTGGAGGTAAATGCAGCCATTATCATTCTCCTCAAAAGGGAAGGGTACAAATTGCAGACTATTTGGTAAAGTCTTCTTAAAGGAAAAGATTAAATTTAAAAAACCAATTCTAGAGTTTGACCCACTTTGCCTAGCTGTGGCATAGGACAGTGCACATGATATTAATACATGCCAAGTCACTACCAACTTCCTTTGGTGTACAGAAAAAGAGATTAATGGTTAATGGGCAGTCTTCCTCTATATTTCTCTATTTCAATCCCTACTCCAGGTTCCATACCTTCCAGGTCATCAATTGTCTTTTCCAGCTTGGCTACCGATCTCTCAGCAAACTCAGCACGGGTCTCTGCCTGGGGGAAATATGAAATTAGTCAGAACCAGAGATGAAGACAAAGAAGAACAATCTCTATTTCTTCCACCTTCTACTTCTGGACCTTTCAGAACCCAAACCAGCCAGTTTAAATCCATATTAATGCCTTATATACCTCTAAATGTTTTGGGTTCTGCCCTATAAATCCCCTCAGCTCACCTCCTTGAGTTTATCAGTAAGAATCTTGATTTCTTCCTCATATTTATCTTCTTTTTGAGAGTACTGTAAGATAAGTAGATTAAAAATTTCAGAGTAGAAATTAGTCACACAGGCAATACCCCCCTCCCTACATTTAACTTACATTGAATATCCTCTTGCACTAAATGTGCTGAATGGTCCAAGAGTAAGAGCAAGGCCTGGCTCTGGACAATAGGTCCTTGAAATTCAGAAATCTATGTCTTTAGAGCCATGAGATCCTCAGGTTAAAATTCTCCATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGC
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AGTTGTATGGATTCTACCTCTAGCAGTATCCCTTCTGAGAAGACTAAATTTGAGAAGCAAATAGAAAAATCACAGTATAATGAAGAAACTATGAATACAAAATATAAAAATTACAAGTCAGTCAGGGTTCTCCTTCTGATCCAAGATTAATTGCCTCCAGAGCTTTTTTTTCTTAGACAGTCTTGCTCTTCAACCCAGACTGGAGTGCAGTGGCATTATCTCGGCTCACTGCAACCTCCATCTCCTGGTTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGTTGGGATTATAGACATGCGCCACCAAGCCCAACTAATTTTTTAAATATTTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCGAGTCATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACTACGCCCAGCCTTTAATGTTTTTCTTTTTTTTTTTTTTTGAGATGGGGTCTCACTCTGTTGCCCAGGCTGAAATGCAGTGGCACATCTTGGCTCACTGTAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTGGCTCAGCCTCCTGAGTAGCTAGGATTACAGGTGCACTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCACGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGCCTCCAAAGCTTTTGCCAAACAAATAACCAGCACCAATGTTTCAAAGATAAGGGTGGAGATTCTAGTTTCCAAAGGATAAAACCAAAGCACACCACTATGCATAGCTTGTACCCCCATCCACCCACAAGCCAAGATCCCAGCCCCACTCTACTGTCAGATAGTTACATAGAGGTCATGTCATTGAGGGCGTGGTCCAGCTCCTCGCTAATGGCCTTGTACTTCAGTTTCTGGGCATAGAGCTCATCTGGACAGGCACAGGAACCACAGGGAGGAATGAGGGGACAGAGTGAAGAGTTTCAGAAGCAGATGAAGAGAGGGAATCATTAGAAATTAGGAAAGTGTGACTGTGGGTCTAATACCACAGTTAGGAAAATATCTACTCTGGCAACCATGACTGGACATTTTCAGATCTACTCTCTCCTATGACCAACTTCCTTTCTTGATACTCCAAATCGACTGCAGCAAGGGCTGAGAACCTGGGCACAGTCATAACTAGAAATTCCTATTACCAAAAGCACTCAAGAGGATACCACTCCCATCCAGGTACCCAATTCCTAGCAGTGATAACACTTAATTGAACAAAAATAGCAAAGGGAGAGAGTATATATCCATATTCAGACACTTCTCTGCCTACAAAATGTGAACCTATTAGTGGCCCCTCTGCTCCACAGGCTGCCCCTGCAACTCTGCCAAGAGAGTGTACCAAAGGAGCATACATCAGAGTTCTCAAAGCAAAGAGTACGTTCCCTTGTCAGGGTGGATGGCAGTTACCAACTTGCAGGGACAGAAAGTATTTAGAAAGCTCCTGACATTGGTCAATGTTCAGATATGGTTATTCCACAACTTCATTTATTGGATAAATACCCGACAACTTGAGTGGCAAAAAGAACTGTGGAAAGTAGCCATGAAATGACATACATCTTGCCCTTCTGAAATCATGGCTTCCATTTAAACCCACAGACTAAAGGTTTAAGACTAATAAATTGGAGGTAAATGCAGCCATTATCATTCTCCTCAAAAGGGAAGGGTACAAATTGCAGACTATTTGGTAAAGTCTTCTTAAAGGAAAAGATTAAATTTAAAAAACCAATTCTAGAGTTTGACCCACTTTGCCTAGCTGTGGCATAGGACAGTGCACATGATATTAATACATGCCAAGTCACTACCAACTTCCTTTGGTGTACAGAAAAAGAGATTAATGGTTAATGGGCAGTCTTCCTCTATATTTCTCTATTTCAATCCCTACTCCAGGTTCCATACCTTCCAGGTCATCAATTTTCTTTTCCAGCTTGGCTACCGATCTCTCAGCAAACTCAGCACGGGTCTCTGCCTGGGGGAAATATGAAATTAGTCAGAACCAGAGATGAAGACAAAGAAGAACAATCTCTATTTCTTCCACCTTCTACTTCTGGACCTTTCAGAACCCAAACCAGCCAGTTTAAATCCATATTAATGCCTTATATACCTCTAAATGTTTTGGGTTCTGCCCTATAAATCCCCTCAGCTCACCTCCTTGAGTTTATCAGTAAGAATCTTGATTTCTTCCTCATATTTATCTTCTTTTTGAGAGTACTGTAAGATAAGTAGATTAAAAATTTCAGAGTAGAAATTAGTCACACAGGCAATACCCCCCTCCCTACATTTAACTTACATTGAATATCCTCTTGCACTAAATGTGCTGAATGGTCCAAGAGTAAGAGCAAGGCCTGGCTCTGGACAATAGGTCCTTGAAATTCAGAAATCTATGTCTTTAGAGCCATGAGATCCTCAGGTTAAAATTCTCCATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGC
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Task1_train_1559
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A variant found in Chromosome 1 affects TPM3 (tropomyosin 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Congenital myopathy 4B, autosomal recessive
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AGTTGTATGGATTCTACCTCTAGCAGTATCCCTTCTGAGAAGACTAAATTTGAGAAGCAAATAGAAAAATCACAGTATAATGAAGAAACTATGAATACAAAATATAAAAATTACAAGTCAGTCAGGGTTCTCCTTCTGATCCAAGATTAATTGCCTCCAGAGCTTTTTTTTCTTAGACAGTCTTGCTCTTCAACCCAGACTGGAGTGCAGTGGCATTATCTCGGCTCACTGCAACCTCCATCTCCTGGTTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGTTGGGATTATAGACATGCGCCACCAAGCCCAACTAATTTTTTAAATATTTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCGAGTCATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACTACGCCCAGCCTTTAATGTTTTTCTTTTTTTTTTTTTTTGAGATGGGGTCTCACTCTGTTGCCCAGGCTGAAATGCAGTGGCACATCTTGGCTCACTGTAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTGGCTCAGCCTCCTGAGTAGCTAGGATTACAGGTGCACTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCACGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGCCTCCAAAGCTTTTGCCAAACAAATAACCAGCACCAATGTTTCAAAGATAAGGGTGGAGATTCTAGTTTCCAAAGGATAAAACCAAAGCACACCACTATGCATAGCTTGTACCCCCATCCACCCACAAGCCAAGATCCCAGCCCCACTCTACTGTCAGATAGTTACATAGAGGTCATGTCATTGAGGGCGTGGTCCAGCTCCTCGCTAATGGCCTTGTACTTCAGTTTCTGGGCATAGAGCTCATCTGGACAGGCACAGGAACCACAGGGAGGAATGAGGGGACAGAGTGAAGAGTTTCAGAAGCAGATGAAGAGAGGGAATCATTAGAAATTAGGAAAGTGTGACTGTGGGTCTAATACCACAGTTAGGAAAATATCTACTCTGGCAACCATGACTGGACATTTTCAGATCTACTCTCTCCTATGACCAACTTCCTTTCTTGATACTCCAAATCGACTGCAGCAAGGGCTGAGAACCTGGGCACAGTCATAACTAGAAATTCCTATTACCAAAAGCACTCAAGAGGATACCACTCCCATCCAGGTACCCAATTCCTAGCAGTGATAACACTTAATTGAACAAAAATAGCAAAGGGAGAGAGTATATATCCATATTCAGACACTTCTCTGCCTACAAAATGTGAACCTATTAGTGGCCCCTCTGCTCCACAGGCTGCCCCTGCAACTCTGCCAAGAGAGTGTACCAAAGGAGCATACATCAGAGTTCTCAAAGCAAAGAGTACGTTCCCTTGTCAGGGTGGATGGCAGTTACCAACTTGCAGGGACAGAAAGTATTTAGAAAGCTCCTGACATTGGTCAATGTTCAGATATGGTTATTCCACAACTTCATTTATTGGATAAATACCCGACAACTTGAGTGGCAAAAAGAACTGTGGAAAGTAGCCATGAAATGACATACATCTTGCCCTTCTGAAATCATGGCTTCCATTTAAACCCACAGACTAAAGGTTTAAGACTAATAAATTGGAGGTAAATGCAGCCATTATCATTCTCCTCAAAAGGGAAGGGTACAAATTGCAGACTATTTGGTAAAGTCTTCTTAAAGGAAAAGATTAAATTTAAAAAACCAATTCTAGAGTTTGACCCACTTTGCCTAGCTGTGGCATAGGACAGTGCACATGATATTAATACATGCCAAGTCACTACCAACTTCCTTTGGTGTACAGAAAAAGAGATTAATGGTTAATGGGCAGTCTTCCTCTATATTTCTCTATTTCAATCCCTACTCCAGGTTCCATACCTTCCAGGTCATCAATTGTCTTTTCCAGCTTGGCTACCGATCTCTCAGCAAACTCAGCACGGGTCTCTGCCTGGGGGAAATATGAAATTAGTCAGAACCAGAGATGAAGACAAAGAAGAACAATCTCTATTTCTTCCACCTTCTACTTCTGGACCTTTCAGAACCCAAACCAGCCAGTTTAAATCCATATTAATGCCTTATATACCTCTAAATGTTTTGGGTTCTGCCCTATAAATCCCCTCAGCTCACCTCCTTGAGTTTATCAGTAAGAATCTTGATTTCTTCCTCATATTTATCTTCTTTTTGAGAGTACTGTAAGATAAGTAGATTAAAAATTTCAGAGTAGAAATTAGTCACACAGGCAATACCCCCCTCCCTACATTTAACTTACATTGAATATCCTCTTGCACTAAATGTGCTGAATGGTCCAAGAGTAAGAGCAAGGCCTGGCTCTGGACAATAGGTCCTTGAAATTCAGAAATCTATGTCTTTAGAGCCATGAGATCCTCAGGTTAAAATTCTCCATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGC
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AGTTGTATGGATTCTACCTCTAGCAGTATCCCTTCTGAGAAGACTAAATTTGAGAAGCAAATAGAAAAATCACAGTATAATGAAGAAACTATGAATACAAAATATAAAAATTACAAGTCAGTCAGGGTTCTCCTTCTGATCCAAGATTAATTGCCTCCAGAGCTTTTTTTTCTTAGACAGTCTTGCTCTTCAACCCAGACTGGAGTGCAGTGGCATTATCTCGGCTCACTGCAACCTCCATCTCCTGGTTTCAAGTGATTCTCCTGCCTTAGCCTCCCGAGTAGTTGGGATTATAGACATGCGCCACCAAGCCCAACTAATTTTTTAAATATTTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCGAGTCATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACTACGCCCAGCCTTTAATGTTTTTCTTTTTTTTTTTTTTTGAGATGGGGTCTCACTCTGTTGCCCAGGCTGAAATGCAGTGGCACATCTTGGCTCACTGTAACCTCTGCCTCCCAGATTCAAGCGATTCTCCTGGCTCAGCCTCCTGAGTAGCTAGGATTACAGGTGCACTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCACGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGCCTCCAAAGCTTTTGCCAAACAAATAACCAGCACCAATGTTTCAAAGATAAGGGTGGAGATTCTAGTTTCCAAAGGATAAAACCAAAGCACACCACTATGCATAGCTTGTACCCCCATCCACCCACAAGCCAAGATCCCAGCCCCACTCTACTGTCAGATAGTTACATAGAGGTCATGTCATTGAGGGCGTGGTCCAGCTCCTCGCTAATGGCCTTGTACTTCAGTTTCTGGGCATAGAGCTCATCTGGACAGGCACAGGAACCACAGGGAGGAATGAGGGGACAGAGTGAAGAGTTTCAGAAGCAGATGAAGAGAGGGAATCATTAGAAATTAGGAAAGTGTGACTGTGGGTCTAATACCACAGTTAGGAAAATATCTACTCTGGCAACCATGACTGGACATTTTCAGATCTACTCTCTCCTATGACCAACTTCCTTTCTTGATACTCCAAATCGACTGCAGCAAGGGCTGAGAACCTGGGCACAGTCATAACTAGAAATTCCTATTACCAAAAGCACTCAAGAGGATACCACTCCCATCCAGGTACCCAATTCCTAGCAGTGATAACACTTAATTGAACAAAAATAGCAAAGGGAGAGAGTATATATCCATATTCAGACACTTCTCTGCCTACAAAATGTGAACCTATTAGTGGCCCCTCTGCTCCACAGGCTGCCCCTGCAACTCTGCCAAGAGAGTGTACCAAAGGAGCATACATCAGAGTTCTCAAAGCAAAGAGTACGTTCCCTTGTCAGGGTGGATGGCAGTTACCAACTTGCAGGGACAGAAAGTATTTAGAAAGCTCCTGACATTGGTCAATGTTCAGATATGGTTATTCCACAACTTCATTTATTGGATAAATACCCGACAACTTGAGTGGCAAAAAGAACTGTGGAAAGTAGCCATGAAATGACATACATCTTGCCCTTCTGAAATCATGGCTTCCATTTAAACCCACAGACTAAAGGTTTAAGACTAATAAATTGGAGGTAAATGCAGCCATTATCATTCTCCTCAAAAGGGAAGGGTACAAATTGCAGACTATTTGGTAAAGTCTTCTTAAAGGAAAAGATTAAATTTAAAAAACCAATTCTAGAGTTTGACCCACTTTGCCTAGCTGTGGCATAGGACAGTGCACATGATATTAATACATGCCAAGTCACTACCAACTTCCTTTGGTGTACAGAAAAAGAGATTAATGGTTAATGGGCAGTCTTCCTCTATATTTCTCTATTTCAATCCCTACTCCAGGTTCCATACCTTCCAGGTCATCAATTTTCTTTTCCAGCTTGGCTACCGATCTCTCAGCAAACTCAGCACGGGTCTCTGCCTGGGGGAAATATGAAATTAGTCAGAACCAGAGATGAAGACAAAGAAGAACAATCTCTATTTCTTCCACCTTCTACTTCTGGACCTTTCAGAACCCAAACCAGCCAGTTTAAATCCATATTAATGCCTTATATACCTCTAAATGTTTTGGGTTCTGCCCTATAAATCCCCTCAGCTCACCTCCTTGAGTTTATCAGTAAGAATCTTGATTTCTTCCTCATATTTATCTTCTTTTTGAGAGTACTGTAAGATAAGTAGATTAAAAATTTCAGAGTAGAAATTAGTCACACAGGCAATACCCCCCTCCCTACATTTAACTTACATTGAATATCCTCTTGCACTAAATGTGCTGAATGGTCCAAGAGTAAGAGCAAGGCCTGGCTCTGGACAATAGGTCCTTGAAATTCAGAAATCTATGTCTTTAGAGCCATGAGATCCTCAGGTTAAAATTCTCCATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGC
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Task1_train_1560
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A genetic alteration is present in TPM3 (tropomyosin 3) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Congenital myopathy 4B, autosomal recessive
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CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAA
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CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTATGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAA
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Task1_train_1561
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The gene TPM3 (tropomyosin 3) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Congenital myopathy with fiber type disproportion
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CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAA
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CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTATGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAA
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Task1_train_1562
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Consider this mutation in TPM3 (tropomyosin 3) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Congenital myopathy 4B, autosomal recessive
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CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAA
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CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTATGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAA
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Task1_train_1563
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Given this variant in gene TPM3 (tropomyosin 3) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; See cases
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CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAA
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CATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTATGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAA
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Task1_train_1564
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A sequence alteration has been identified in TPM3 (tropomyosin 3) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Inborn genetic diseases
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ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
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ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACAAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
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Task1_train_1565
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This mutation is located in gene TPM3 (tropomyosin 3) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Nemaline myopathy
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ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
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ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACAAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
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Task1_train_1566
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This sequence variant lies in TPM3 (tropomyosin 3) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Congenital myopathy 4A, autosomal dominant
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ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
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ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACAAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
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Task1_train_1567
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This sequence variant lies in TPM3 (tropomyosin 3) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Congenital myopathy with fiber type disproportion
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ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
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ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACAAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
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Task1_train_1568
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Here is a genetic alteration in TPM3 (tropomyosin 3) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Congenital myopathy 4B, autosomal recessive
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ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
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ATGACTTTTTAAGATGGATCTAAGCTTTGATATTATTCAGATCAACCCAAGGAGGTGTTTTTCCTTTCCCCTGCTTGATGAGCAAGAGTAGTAGCACCCCAAGGTCACATGACTGAAACACACCCACATGATGGCAAAGTGAAGTCATCTGTCTTGATTGCTCATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACAAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAAC
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Task1_train_1569
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A variant affecting Chromosome 1, within the gene TPM3 (tropomyosin 3), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Congenital myopathy 4A, autosomal dominant
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CATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGAGTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAACCCTAGGAACACATTAAAATTAGCTGGGGAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACACTGGGAGGCCGAGGCGGGAGGATCACAAAGGCAGGAGATCAAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAA
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CATTAGGTCTCAGAGCTGATTCTGTCTGTTGCCCCCATCTGTCTGCTAGAAAGCCTGTTAGGGCCCTTGATTATTGCTTTTCAGCACAGCAGTATCAGCCTAAGGAGCACATGACTCCAGTAACCTGAGACCAAGAAGTTATTTTAATTAAAGCAATCAAAGTGCACAGAAAATAGCATTAAACCCAGAACCTGAATACATGGTAAGGAGGTAGGAAGAGGACACGCCTCACTGGATTATATATGGAATGCGTGTCTCCAGTCTTTCATCAAGGGCAGGGCTGGGCCCAGGCCCCAAAGCCTGTCACTTTCACAAACCAGCCCCTACCTTCTCCGCCTGAGCCTCAAGAGACTTGAGGTTGTTGGTGACATTCTTCAGCTCCTCCTCCAGCTCAGAACACTTACTGTGAATATTTTAAATACCACAGGAGAGGAAAAGGGAAAAGGAAGAGAATAAAAAAAGGGAGAGAGACACATAGACGTGAATTGAACCTATATGTAGAGAGAGTTGGAAGGCATACTGGGGAAGAGATGTTCCCAAGTAACCTGAGCAAGCATCAACCCTCCTCCCTCTACCATAGAACGTGTCAGGAGCTAGACCTTCCTGGGCTCAAAAATGTTTGAATACTAATAAAGCACTTGAGAGAAATCCACTACCAGGAACAAGTCATAACTGCTACCTGGGGTGGAGGTGGGAACAAATGCCCAACCCAAACAGTCCCCCAAATCACCCAAAGGAAGGAGACCCTGTGGAGAGGCAGTGAAGCAACTAGGAAAGAAGAGATGAAAGATGCCAAGTAAGTGGAAAAGAATGGAGCATTCCATGAAGAGATGAGACAGCACTCAACAAAATCAAGTGGAGGGGAGGCAGCTGCAAAACAAAAACAAAACAAAACAAAACCACACCACATATATAACCTTGCTGTGGGCTTAATGGTTAGTACCTTTTCTTCAGCAGCACTCAGACACTTCAGGTTCTGGTCCATCAGTCTAATCTGCTCATCCATCTCTCGGCAACGGCTGTTAGTGATAGTCACGGGGATGGCACAAGCCAGGTTGTGGGGAGGGAGAAAGGTCAAAAAGGAACACAGCAAGAAAACAAGCAGCAAAACGAAAAAAAAAAATTCAAAAAATGGGAAGAGAACACCACCATGGTCATGATATGTTATGTCTGGCAGACGGGAATGTAAGAGGGAAGCACAAATACATATGCATTCAGCACTGACTTTGTTAATCAAGGCCCAGAAGGTACCGACGGGAGAGCAGTTAATATCTACCCTTGCCCTAAGGTTCCCTAGCAGATTGGCAAAGTGGCCAAAACAGACACCAGATTTTTTTTTTAAATTTATTTGTTTTAGGGACAGGGTCTCCCTATGACGCCCAGGCTGGCCTCCAACTCCTGGGTTCAAGCAACCTTCCTGCCTTGGCATACTAAGTAGCTGGGACTACAGGTTTGAGCCACCACACCCAGCCAGACACTAGATCTTAAATCAGGATAGCCACTTTGATGTCTTCCACCCCAGGTGGAAGGACCCAGTAGGATCTTCCAATTAACTGTTCACCATGTATTAGTCCTTATTTGCTCTCAATTTGTAAACCCTACCAACAAAAAATAAGAAAGCCTCTTTTGTCACTTGTCACTAGTCAGGAGAATAAGGAAGCCTAAAACCATTCTTGGGCCTAAAAAAGCACTATAGATGACTCCCATTCCCTAGGCCCTGTTTAACAAGGTTGAAGGAATGCTAATTTATTCATATTAGTGCCCAAGCCAAAGGGGAAGGGATAAATTGGTAATGACAAGATTTGGGGAGCTAGATACTCACGACTCTGCCAGCTCAGCTCGTTCCTCTGTGCGTTCCAAGTCTCCTTCAATGATCACCAACTTACGAGCCACCTACAGGAAAAGATCCCAGTATAGCTTAGTGAAGCAAAGGAGCCATTTACCGCATTATGCTTTGTAAAAGGCCGATACGAGAGGGACTAACAGAAGGTCACTTACCTCTTCATACTTCCTATCTGCCTCTTCTGCAATGTGCTTAGCTTCTTTGATTTGGATTTCCTGGAGTTCCATCTTTTCTTCATCTTTTAAGGCCCGGTTTTCAATAACCTTCATACCTCTGCCAGAAATAGGACAAAAGCAATACTGACACCCTGAGGAGTGTGTCGTCAGCTCCACTCCAAGGGTCTCAGAACTGTACTTTTAAAAGCCCACTCCTCTCTGTCTGCCCCTCAAATGGAAATTCCATGTTACTACTCCCACACCTTAGTTTAATTATTTCATTTAAAATTTTTTGTTATGGCTGGGCACAGTGGCTCACGCCTATAACCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTAGTGGCACATGCCTGTAATTCCAGCTACTTGGGAGGCTCAGGCAGGAGAATCACTTGAACTCAGTAGGTGGAGGTTGCGGTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAACTTTTTGTTATAAAGGTAATACATCCTGGCCAAGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGAGAGGTCAAGTCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCTGGCAAACATGGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAAGCACCTGTAATCCCATCTACTGAGGCAAGATAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCGCACTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACACCGTCTCCTCCACCACCCCCAAAAAAACTTATTAAGAAATTAAATACTAAAATATTAAATAAAAATATGGATATATACAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCCGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAACCCTAGGAACACATTAAAATTAGCTGGGGAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACACTGGGAGGCCGAGGCGGGAGGATCACAAAGGCAGGAGATCAAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAA
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Task1_train_1570
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Gene TPM3 (tropomyosin 3) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Congenital myopathy 4A, autosomal dominant
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AACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAACCCTAGGAACACATTAAAATTAGCTGGGGAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACACTGGGAGGCCGAGGCGGGAGGATCACAAAGGCAGGAGATCAAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCTATAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCTGGAGAACTTTAAAAACATCAATGCCCAGACCCCTCTTGCAACTGATTCTAATGGAACTGGGATGAGATCTAAGCATCCAGTTTTAAATTCCCCAGTGATTTCCCCCCTCACCCCTACCTATGATTCTAATAATGCAACCAGCGTTGAGAAGGCTTACTAAAAACAGATTGCCAGGCCCCACATCCAAAGTTTCTGATTCAGCAGATCAGCATAGGAGCTGAGAATGTGAATTTTTACCAAGTTCCCAAGTATTGCTGATGCTGCTGGTCTGAGACCTTACTTAGAGAACCTCTGTTTTAGAGAAATTAATCTCACAAATAGAAGCTTATGATCCAGAAAGTAGAAGTCATACTGGTGATCCCATTTTAAGGATCATTAGGCCAATTTGTAAGGAAATACCAATTACAAAAGGGTCACAACATCTAAGTTACCCTTACTGTCTTCAAGGGGACAGAATATGCAGAATAGAAAGGAGATCCTGTGTGATGGAGTTAGTATTTTATTTTTATTGACTGATTGACACAGGGTCTTTCTCTGTCACCCAGGAGTGCAGTGGCGCAATCAGAGCTCACTGTAGCCCCAACTTCCTGGGCTTGAGCCACCCTCCTGCCTCAGCGTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACGCAGCCAGAATTGCTATTTAGAAAACAGGTCTATAAGGAAATCTTGATCAGAACTATTATGAACTTTTAAAATCCACACTCCATCAGGCTTCCCTACACACCTCTCACTCTCATCAGCAGCTTTTTCAGCTTCTTCCAGCTTTTGCAGGGCAGTGGCCAGGCGCTCCTGAGCACGGTCCAGCTCTTCTTCAACCAGCTGGATCCTACGGTTCAAGGAGGCCACCTCAGCCTCAGCCTGCATTTGAAGGAAAGAATGGACAAGGGAAGCAGAGGCATGGAGAAAAGAAGAAATAACTATGACATTAAGATCAGGGTTGACTACCATGAAAAAGCCAGAGTCTCGCAGGGTAGAACTTGTCTTAGCTCAGCTGTTAAAAGATCTAGCAGACATAACTTTATATATATATATTTCCTCCCTTTCCCATCAACGAACTCCCATATGTTCCACAGGAAGAGTGTTTTAAAACTCAGTTCCTTGCCCAGCCCAGTGAGTTAGTACCACCCACTTCCTGGACTCAGTTCAAATTCCTCAACACACTGGAGTCAGAAAAGAAAGTCAATGAAGGGTTCCTTCTGCCTGAGCTCTGGCTTGGAGGCATGTCTCATCCTCAGTAACCTTTCAAGTGTCTCATAAAGCAGGAAAAAAAAAAAAAAAAAAGCAAGGTTTCTTAAAGAGGGTATCCTGACTGGGTGTGGTGGCTCATGCCTGTAATCCCAGTATTCTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGACTCTAATAAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGTACCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCCCTTGAACCCGGGAGGCAGAGGTTGTACTGAGCTGAGATTGCGCCACTACACTCCAGCCTGGGCAACACGGTGAAACTCCATTTCAAAAAAAAAAAAAAAAAAAGAGGGAATCCTGGATTACCTATTAATTGCTGCTTAACTCAAACCGTTATTCCTATGATCACTTTACCCTAACACATCAGAAGAATAACTAGCCAAGGGAATGTCTTCCAGAATAGCCTTCCAGACTGGAAAGCAAAAGAATGGAATATTGTTGGGATGCCTACTCACCAGCCCTTCAACTTGTGCCCCCGTACTCCTTTTTTAAGTTGGCTACAAGGAGCTGCTTCTGGCTAAAATTATCTGCTTTGATAGCTTTACAAAAAAGAAAGAACATTTCCACCACACCCACTACCATTCCTCCAAATTTCTGAATTTTCTCCTTTCTATTCCTCCAGCCATCCCCTTAGCTTCACCCTCTAATACAGCGACAATCTTCCCCCTGGCCTCCATCTCACAATGAAGTATATAGGTTAGAGTCCAAGTAAACCCATCCTGGATGGGTTTTCTCTAAGAAACAAGGAAAGAAGGAGGCAGCCTGCAGGTGGATGGATAAATTCTAATGGTAGGAAAACCTCTTTCCATGACTGCCTCCCCGCTACCTTTACTGGTGGGAGGTACCCTGACTGCAACAGTATACAAGAATTTAATATGCCCCGCACACCACCCAGTTCAGATGCTTATCCAAGTGCCTGGTAAACACGATCTCTCTTCTATAGCCCAGATTGTGCCTGAATTCTATTACCCTGATTTCTTCCTGGCAGGCAGGAGTTGGTGCAGCTATAGAAACAGCCTGGGCCACTAGCTCCGATGAGGAAGAATATAGACCAAAAGACTCCTTTTTAACCATCAGGACTGGCACAAAAACTTCCACATACAAACATGAGAAGCTGAAGAGACTAGGAAGGGAAGCAGAGGGCTGGGGCTACAATCTAGCCACCAGGCAAAGAAAATCGAGAAGTCAACATAAGCTGAAATCATTAAGAAACCATTTGTGCCTCTAACTACACTACTCAAAACACCACAAAGACAAGTATTCTCTGCTTCTGCCTCTTCCAGAAAAATAGATGTTCTCTGTAACAACACACATTTCTCCTCACAAACCCAACAAGGCCATGGATCAAGAGCAAGTCAGGCTATCAGGCAAGACCTAGGAGACACTGCTAGTAAAATGACTTACCCCCCTCAGACGAAAAATACAACTAGATTTAGAGGAAGCTCATGAAATGTAAGACATCATGCAGCTCACCAGTAGTTACCCAAACTGGAGTAGAAGATAACAGGCTATGGGGCGGGGGTGTACAGTTG
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AACATGGCAAAACCCTGTCTGTACTAGAAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAACCCTAGGAACACATTAAAATTAGCTGGGGAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACACTGGGAGGCCGAGGCGGGAGGATCACAAAGGCAGGAGATCAAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCTATAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCTGGAGAACTTTAAAAACATCAATGCCCAGACCCCTCTTGCAACTGATTCTAATGGAACTGGGATGAGATCTAAGCATCCAGTTTTAAATTCCCCAGTGATTTCCCCCCTCACCCCTACCTATGATTCTAATAATGCAACCAGCGTTGAGAAGGCTTACTAAAAACAGATTGCCAGGCCCCACATCCAAAGTTTCTGATTCAGCAGATCAGCATAGGAGCTGAGAATGTGAATTTTTACCAAGTTCCCAAGTATTGCTGATGCTGCTGGTCTGAGACCTTACTTAGAGAACCTCTGTTTTAGAGAAATTAATCTCACAAATAGAAGCTTATGATCCAGAAAGTAGAAGTCATACTGGTGATCCCATTTTAAGGATCATTAGGCCAATTTGTAAGGAAATACCAATTACAAAAGGGTCACAACATCTAAGTTACCCTTACTGTCTTCAAGGGGACAGAATATGCAGAATAGAAAGGAGATCCTGTGTGATGGAGTTAGTATTTTATTTTTATTGACTGATTGACACAGGGTCTTTCTCTGTCACCCAGGAGTGCAGTGGCGCAATCAGAGCTCACTGTAGCCCCAACTTCCTGGGCTTGAGCCACCCTCCTGCCTCAGCGTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACGCAGCCAGAATTGCTATTTAGAAAACAGGTCTATAAGGAAATCTTGATCAGAACTATTATGAACTTTTAAAATCCACACTCCATCAGGCTTCCCTACACACCTCTCACTCTCATCAGCAGCTTTTTCAGCTTCTTCCAGCTTTTGCAGGGCAGTGGCCAGGCGCTCCTGAGCACGGTCCATCTCTTCTTCAACCAGCTGGATCCTACGGTTCAAGGAGGCCACCTCAGCCTCAGCCTGCATTTGAAGGAAAGAATGGACAAGGGAAGCAGAGGCATGGAGAAAAGAAGAAATAACTATGACATTAAGATCAGGGTTGACTACCATGAAAAAGCCAGAGTCTCGCAGGGTAGAACTTGTCTTAGCTCAGCTGTTAAAAGATCTAGCAGACATAACTTTATATATATATATTTCCTCCCTTTCCCATCAACGAACTCCCATATGTTCCACAGGAAGAGTGTTTTAAAACTCAGTTCCTTGCCCAGCCCAGTGAGTTAGTACCACCCACTTCCTGGACTCAGTTCAAATTCCTCAACACACTGGAGTCAGAAAAGAAAGTCAATGAAGGGTTCCTTCTGCCTGAGCTCTGGCTTGGAGGCATGTCTCATCCTCAGTAACCTTTCAAGTGTCTCATAAAGCAGGAAAAAAAAAAAAAAAAAAGCAAGGTTTCTTAAAGAGGGTATCCTGACTGGGTGTGGTGGCTCATGCCTGTAATCCCAGTATTCTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGACTCTAATAAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGTACCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCCCTTGAACCCGGGAGGCAGAGGTTGTACTGAGCTGAGATTGCGCCACTACACTCCAGCCTGGGCAACACGGTGAAACTCCATTTCAAAAAAAAAAAAAAAAAAAGAGGGAATCCTGGATTACCTATTAATTGCTGCTTAACTCAAACCGTTATTCCTATGATCACTTTACCCTAACACATCAGAAGAATAACTAGCCAAGGGAATGTCTTCCAGAATAGCCTTCCAGACTGGAAAGCAAAAGAATGGAATATTGTTGGGATGCCTACTCACCAGCCCTTCAACTTGTGCCCCCGTACTCCTTTTTTAAGTTGGCTACAAGGAGCTGCTTCTGGCTAAAATTATCTGCTTTGATAGCTTTACAAAAAAGAAAGAACATTTCCACCACACCCACTACCATTCCTCCAAATTTCTGAATTTTCTCCTTTCTATTCCTCCAGCCATCCCCTTAGCTTCACCCTCTAATACAGCGACAATCTTCCCCCTGGCCTCCATCTCACAATGAAGTATATAGGTTAGAGTCCAAGTAAACCCATCCTGGATGGGTTTTCTCTAAGAAACAAGGAAAGAAGGAGGCAGCCTGCAGGTGGATGGATAAATTCTAATGGTAGGAAAACCTCTTTCCATGACTGCCTCCCCGCTACCTTTACTGGTGGGAGGTACCCTGACTGCAACAGTATACAAGAATTTAATATGCCCCGCACACCACCCAGTTCAGATGCTTATCCAAGTGCCTGGTAAACACGATCTCTCTTCTATAGCCCAGATTGTGCCTGAATTCTATTACCCTGATTTCTTCCTGGCAGGCAGGAGTTGGTGCAGCTATAGAAACAGCCTGGGCCACTAGCTCCGATGAGGAAGAATATAGACCAAAAGACTCCTTTTTAACCATCAGGACTGGCACAAAAACTTCCACATACAAACATGAGAAGCTGAAGAGACTAGGAAGGGAAGCAGAGGGCTGGGGCTACAATCTAGCCACCAGGCAAAGAAAATCGAGAAGTCAACATAAGCTGAAATCATTAAGAAACCATTTGTGCCTCTAACTACACTACTCAAAACACCACAAAGACAAGTATTCTCTGCTTCTGCCTCTTCCAGAAAAATAGATGTTCTCTGTAACAACACACATTTCTCCTCACAAACCCAACAAGGCCATGGATCAAGAGCAAGTCAGGCTATCAGGCAAGACCTAGGAGACACTGCTAGTAAAATGACTTACCCCCCTCAGACGAAAAATACAACTAGATTTAGAGGAAGCTCATGAAATGTAAGACATCATGCAGCTCACCAGTAGTTACCCAAACTGGAGTAGAAGATAACAGGCTATGGGGCGGGGGTGTACAGTTG
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Task1_train_1571
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With a mutation on Chromosome 1 in gene TPM3 (tropomyosin 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Congenital myopathy 4B, autosomal recessive
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AAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAACCCTAGGAACACATTAAAATTAGCTGGGGAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACACTGGGAGGCCGAGGCGGGAGGATCACAAAGGCAGGAGATCAAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCTATAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCTGGAGAACTTTAAAAACATCAATGCCCAGACCCCTCTTGCAACTGATTCTAATGGAACTGGGATGAGATCTAAGCATCCAGTTTTAAATTCCCCAGTGATTTCCCCCCTCACCCCTACCTATGATTCTAATAATGCAACCAGCGTTGAGAAGGCTTACTAAAAACAGATTGCCAGGCCCCACATCCAAAGTTTCTGATTCAGCAGATCAGCATAGGAGCTGAGAATGTGAATTTTTACCAAGTTCCCAAGTATTGCTGATGCTGCTGGTCTGAGACCTTACTTAGAGAACCTCTGTTTTAGAGAAATTAATCTCACAAATAGAAGCTTATGATCCAGAAAGTAGAAGTCATACTGGTGATCCCATTTTAAGGATCATTAGGCCAATTTGTAAGGAAATACCAATTACAAAAGGGTCACAACATCTAAGTTACCCTTACTGTCTTCAAGGGGACAGAATATGCAGAATAGAAAGGAGATCCTGTGTGATGGAGTTAGTATTTTATTTTTATTGACTGATTGACACAGGGTCTTTCTCTGTCACCCAGGAGTGCAGTGGCGCAATCAGAGCTCACTGTAGCCCCAACTTCCTGGGCTTGAGCCACCCTCCTGCCTCAGCGTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACGCAGCCAGAATTGCTATTTAGAAAACAGGTCTATAAGGAAATCTTGATCAGAACTATTATGAACTTTTAAAATCCACACTCCATCAGGCTTCCCTACACACCTCTCACTCTCATCAGCAGCTTTTTCAGCTTCTTCCAGCTTTTGCAGGGCAGTGGCCAGGCGCTCCTGAGCACGGTCCAGCTCTTCTTCAACCAGCTGGATCCTACGGTTCAAGGAGGCCACCTCAGCCTCAGCCTGCATTTGAAGGAAAGAATGGACAAGGGAAGCAGAGGCATGGAGAAAAGAAGAAATAACTATGACATTAAGATCAGGGTTGACTACCATGAAAAAGCCAGAGTCTCGCAGGGTAGAACTTGTCTTAGCTCAGCTGTTAAAAGATCTAGCAGACATAACTTTATATATATATATTTCCTCCCTTTCCCATCAACGAACTCCCATATGTTCCACAGGAAGAGTGTTTTAAAACTCAGTTCCTTGCCCAGCCCAGTGAGTTAGTACCACCCACTTCCTGGACTCAGTTCAAATTCCTCAACACACTGGAGTCAGAAAAGAAAGTCAATGAAGGGTTCCTTCTGCCTGAGCTCTGGCTTGGAGGCATGTCTCATCCTCAGTAACCTTTCAAGTGTCTCATAAAGCAGGAAAAAAAAAAAAAAAAAAGCAAGGTTTCTTAAAGAGGGTATCCTGACTGGGTGTGGTGGCTCATGCCTGTAATCCCAGTATTCTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGACTCTAATAAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGTACCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCCCTTGAACCCGGGAGGCAGAGGTTGTACTGAGCTGAGATTGCGCCACTACACTCCAGCCTGGGCAACACGGTGAAACTCCATTTCAAAAAAAAAAAAAAAAAAAGAGGGAATCCTGGATTACCTATTAATTGCTGCTTAACTCAAACCGTTATTCCTATGATCACTTTACCCTAACACATCAGAAGAATAACTAGCCAAGGGAATGTCTTCCAGAATAGCCTTCCAGACTGGAAAGCAAAAGAATGGAATATTGTTGGGATGCCTACTCACCAGCCCTTCAACTTGTGCCCCCGTACTCCTTTTTTAAGTTGGCTACAAGGAGCTGCTTCTGGCTAAAATTATCTGCTTTGATAGCTTTACAAAAAAGAAAGAACATTTCCACCACACCCACTACCATTCCTCCAAATTTCTGAATTTTCTCCTTTCTATTCCTCCAGCCATCCCCTTAGCTTCACCCTCTAATACAGCGACAATCTTCCCCCTGGCCTCCATCTCACAATGAAGTATATAGGTTAGAGTCCAAGTAAACCCATCCTGGATGGGTTTTCTCTAAGAAACAAGGAAAGAAGGAGGCAGCCTGCAGGTGGATGGATAAATTCTAATGGTAGGAAAACCTCTTTCCATGACTGCCTCCCCGCTACCTTTACTGGTGGGAGGTACCCTGACTGCAACAGTATACAAGAATTTAATATGCCCCGCACACCACCCAGTTCAGATGCTTATCCAAGTGCCTGGTAAACACGATCTCTCTTCTATAGCCCAGATTGTGCCTGAATTCTATTACCCTGATTTCTTCCTGGCAGGCAGGAGTTGGTGCAGCTATAGAAACAGCCTGGGCCACTAGCTCCGATGAGGAAGAATATAGACCAAAAGACTCCTTTTTAACCATCAGGACTGGCACAAAAACTTCCACATACAAACATGAGAAGCTGAAGAGACTAGGAAGGGAAGCAGAGGGCTGGGGCTACAATCTAGCCACCAGGCAAAGAAAATCGAGAAGTCAACATAAGCTGAAATCATTAAGAAACCATTTGTGCCTCTAACTACACTACTCAAAACACCACAAAGACAAGTATTCTCTGCTTCTGCCTCTTCCAGAAAAATAGATGTTCTCTGTAACAACACACATTTCTCCTCACAAACCCAACAAGGCCATGGATCAAGAGCAAGTCAGGCTATCAGGCAAGACCTAGGAGACACTGCTAGTAAAATGACTTACCCCCCTCAGACGAAAAATACAACTAGATTTAGAGGAAGCTCATGAAATGTAAGACATCATGCAGCTCACCAGTAGTTACCCAAACTGGAGTAGAAGATAACAGGCTATGGGGCGGGGGTGTACAGTTGCCATGACAGCAAGCTGGCTCAGGCAGT
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AAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAACCCTAGGAACACATTAAAATTAGCTGGGGAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACACTGGGAGGCCGAGGCGGGAGGATCACAAAGGCAGGAGATCAAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCTATAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCTGGAGAACTTTAAAAACATCAATGCCCAGACCCCTCTTGCAACTGATTCTAATGGAACTGGGATGAGATCTAAGCATCCAGTTTTAAATTCCCCAGTGATTTCCCCCCTCACCCCTACCTATGATTCTAATAATGCAACCAGCGTTGAGAAGGCTTACTAAAAACAGATTGCCAGGCCCCACATCCAAAGTTTCTGATTCAGCAGATCAGCATAGGAGCTGAGAATGTGAATTTTTACCAAGTTCCCAAGTATTGCTGATGCTGCTGGTCTGAGACCTTACTTAGAGAACCTCTGTTTTAGAGAAATTAATCTCACAAATAGAAGCTTATGATCCAGAAAGTAGAAGTCATACTGGTGATCCCATTTTAAGGATCATTAGGCCAATTTGTAAGGAAATACCAATTACAAAAGGGTCACAACATCTAAGTTACCCTTACTGTCTTCAAGGGGACAGAATATGCAGAATAGAAAGGAGATCCTGTGTGATGGAGTTAGTATTTTATTTTTATTGACTGATTGACACAGGGTCTTTCTCTGTCACCCAGGAGTGCAGTGGCGCAATCAGAGCTCACTGTAGCCCCAACTTCCTGGGCTTGAGCCACCCTCCTGCCTCAGCGTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACGCAGCCAGAATTGCTATTTAGAAAACAGGTCTATAAGGAAATCTTGATCAGAACTATTATGAACTTTTAAAATCCACACTCCATCAGGCTTCCCTACACACCTCTCACTCTCATCAGCAGCTTTTTCAGCTTCTTCCAGCTTTTGCAGGGCAGTGGCCAGGCGCTCCTGAGCACGGTCCAGCTCTTCTTCAACCAGCTGGATCCTACAGTTCAAGGAGGCCACCTCAGCCTCAGCCTGCATTTGAAGGAAAGAATGGACAAGGGAAGCAGAGGCATGGAGAAAAGAAGAAATAACTATGACATTAAGATCAGGGTTGACTACCATGAAAAAGCCAGAGTCTCGCAGGGTAGAACTTGTCTTAGCTCAGCTGTTAAAAGATCTAGCAGACATAACTTTATATATATATATTTCCTCCCTTTCCCATCAACGAACTCCCATATGTTCCACAGGAAGAGTGTTTTAAAACTCAGTTCCTTGCCCAGCCCAGTGAGTTAGTACCACCCACTTCCTGGACTCAGTTCAAATTCCTCAACACACTGGAGTCAGAAAAGAAAGTCAATGAAGGGTTCCTTCTGCCTGAGCTCTGGCTTGGAGGCATGTCTCATCCTCAGTAACCTTTCAAGTGTCTCATAAAGCAGGAAAAAAAAAAAAAAAAAAGCAAGGTTTCTTAAAGAGGGTATCCTGACTGGGTGTGGTGGCTCATGCCTGTAATCCCAGTATTCTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGACTCTAATAAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGTACCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCCCTTGAACCCGGGAGGCAGAGGTTGTACTGAGCTGAGATTGCGCCACTACACTCCAGCCTGGGCAACACGGTGAAACTCCATTTCAAAAAAAAAAAAAAAAAAAGAGGGAATCCTGGATTACCTATTAATTGCTGCTTAACTCAAACCGTTATTCCTATGATCACTTTACCCTAACACATCAGAAGAATAACTAGCCAAGGGAATGTCTTCCAGAATAGCCTTCCAGACTGGAAAGCAAAAGAATGGAATATTGTTGGGATGCCTACTCACCAGCCCTTCAACTTGTGCCCCCGTACTCCTTTTTTAAGTTGGCTACAAGGAGCTGCTTCTGGCTAAAATTATCTGCTTTGATAGCTTTACAAAAAAGAAAGAACATTTCCACCACACCCACTACCATTCCTCCAAATTTCTGAATTTTCTCCTTTCTATTCCTCCAGCCATCCCCTTAGCTTCACCCTCTAATACAGCGACAATCTTCCCCCTGGCCTCCATCTCACAATGAAGTATATAGGTTAGAGTCCAAGTAAACCCATCCTGGATGGGTTTTCTCTAAGAAACAAGGAAAGAAGGAGGCAGCCTGCAGGTGGATGGATAAATTCTAATGGTAGGAAAACCTCTTTCCATGACTGCCTCCCCGCTACCTTTACTGGTGGGAGGTACCCTGACTGCAACAGTATACAAGAATTTAATATGCCCCGCACACCACCCAGTTCAGATGCTTATCCAAGTGCCTGGTAAACACGATCTCTCTTCTATAGCCCAGATTGTGCCTGAATTCTATTACCCTGATTTCTTCCTGGCAGGCAGGAGTTGGTGCAGCTATAGAAACAGCCTGGGCCACTAGCTCCGATGAGGAAGAATATAGACCAAAAGACTCCTTTTTAACCATCAGGACTGGCACAAAAACTTCCACATACAAACATGAGAAGCTGAAGAGACTAGGAAGGGAAGCAGAGGGCTGGGGCTACAATCTAGCCACCAGGCAAAGAAAATCGAGAAGTCAACATAAGCTGAAATCATTAAGAAACCATTTGTGCCTCTAACTACACTACTCAAAACACCACAAAGACAAGTATTCTCTGCTTCTGCCTCTTCCAGAAAAATAGATGTTCTCTGTAACAACACACATTTCTCCTCACAAACCCAACAAGGCCATGGATCAAGAGCAAGTCAGGCTATCAGGCAAGACCTAGGAGACACTGCTAGTAAAATGACTTACCCCCCTCAGACGAAAAATACAACTAGATTTAGAGGAAGCTCATGAAATGTAAGACATCATGCAGCTCACCAGTAGTTACCCAAACTGGAGTAGAAGATAACAGGCTATGGGGCGGGGGTGTACAGTTGCCATGACAGCAAGCTGGCTCAGGCAGT
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Task1_train_1572
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Gene TPM3 (tropomyosin 3) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Congenital myopathy with fiber type disproportion
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AAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAACCCTAGGAACACATTAAAATTAGCTGGGGAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACACTGGGAGGCCGAGGCGGGAGGATCACAAAGGCAGGAGATCAAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCTATAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCTGGAGAACTTTAAAAACATCAATGCCCAGACCCCTCTTGCAACTGATTCTAATGGAACTGGGATGAGATCTAAGCATCCAGTTTTAAATTCCCCAGTGATTTCCCCCCTCACCCCTACCTATGATTCTAATAATGCAACCAGCGTTGAGAAGGCTTACTAAAAACAGATTGCCAGGCCCCACATCCAAAGTTTCTGATTCAGCAGATCAGCATAGGAGCTGAGAATGTGAATTTTTACCAAGTTCCCAAGTATTGCTGATGCTGCTGGTCTGAGACCTTACTTAGAGAACCTCTGTTTTAGAGAAATTAATCTCACAAATAGAAGCTTATGATCCAGAAAGTAGAAGTCATACTGGTGATCCCATTTTAAGGATCATTAGGCCAATTTGTAAGGAAATACCAATTACAAAAGGGTCACAACATCTAAGTTACCCTTACTGTCTTCAAGGGGACAGAATATGCAGAATAGAAAGGAGATCCTGTGTGATGGAGTTAGTATTTTATTTTTATTGACTGATTGACACAGGGTCTTTCTCTGTCACCCAGGAGTGCAGTGGCGCAATCAGAGCTCACTGTAGCCCCAACTTCCTGGGCTTGAGCCACCCTCCTGCCTCAGCGTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACGCAGCCAGAATTGCTATTTAGAAAACAGGTCTATAAGGAAATCTTGATCAGAACTATTATGAACTTTTAAAATCCACACTCCATCAGGCTTCCCTACACACCTCTCACTCTCATCAGCAGCTTTTTCAGCTTCTTCCAGCTTTTGCAGGGCAGTGGCCAGGCGCTCCTGAGCACGGTCCAGCTCTTCTTCAACCAGCTGGATCCTACGGTTCAAGGAGGCCACCTCAGCCTCAGCCTGCATTTGAAGGAAAGAATGGACAAGGGAAGCAGAGGCATGGAGAAAAGAAGAAATAACTATGACATTAAGATCAGGGTTGACTACCATGAAAAAGCCAGAGTCTCGCAGGGTAGAACTTGTCTTAGCTCAGCTGTTAAAAGATCTAGCAGACATAACTTTATATATATATATTTCCTCCCTTTCCCATCAACGAACTCCCATATGTTCCACAGGAAGAGTGTTTTAAAACTCAGTTCCTTGCCCAGCCCAGTGAGTTAGTACCACCCACTTCCTGGACTCAGTTCAAATTCCTCAACACACTGGAGTCAGAAAAGAAAGTCAATGAAGGGTTCCTTCTGCCTGAGCTCTGGCTTGGAGGCATGTCTCATCCTCAGTAACCTTTCAAGTGTCTCATAAAGCAGGAAAAAAAAAAAAAAAAAAGCAAGGTTTCTTAAAGAGGGTATCCTGACTGGGTGTGGTGGCTCATGCCTGTAATCCCAGTATTCTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGACTCTAATAAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGTACCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCCCTTGAACCCGGGAGGCAGAGGTTGTACTGAGCTGAGATTGCGCCACTACACTCCAGCCTGGGCAACACGGTGAAACTCCATTTCAAAAAAAAAAAAAAAAAAAGAGGGAATCCTGGATTACCTATTAATTGCTGCTTAACTCAAACCGTTATTCCTATGATCACTTTACCCTAACACATCAGAAGAATAACTAGCCAAGGGAATGTCTTCCAGAATAGCCTTCCAGACTGGAAAGCAAAAGAATGGAATATTGTTGGGATGCCTACTCACCAGCCCTTCAACTTGTGCCCCCGTACTCCTTTTTTAAGTTGGCTACAAGGAGCTGCTTCTGGCTAAAATTATCTGCTTTGATAGCTTTACAAAAAAGAAAGAACATTTCCACCACACCCACTACCATTCCTCCAAATTTCTGAATTTTCTCCTTTCTATTCCTCCAGCCATCCCCTTAGCTTCACCCTCTAATACAGCGACAATCTTCCCCCTGGCCTCCATCTCACAATGAAGTATATAGGTTAGAGTCCAAGTAAACCCATCCTGGATGGGTTTTCTCTAAGAAACAAGGAAAGAAGGAGGCAGCCTGCAGGTGGATGGATAAATTCTAATGGTAGGAAAACCTCTTTCCATGACTGCCTCCCCGCTACCTTTACTGGTGGGAGGTACCCTGACTGCAACAGTATACAAGAATTTAATATGCCCCGCACACCACCCAGTTCAGATGCTTATCCAAGTGCCTGGTAAACACGATCTCTCTTCTATAGCCCAGATTGTGCCTGAATTCTATTACCCTGATTTCTTCCTGGCAGGCAGGAGTTGGTGCAGCTATAGAAACAGCCTGGGCCACTAGCTCCGATGAGGAAGAATATAGACCAAAAGACTCCTTTTTAACCATCAGGACTGGCACAAAAACTTCCACATACAAACATGAGAAGCTGAAGAGACTAGGAAGGGAAGCAGAGGGCTGGGGCTACAATCTAGCCACCAGGCAAAGAAAATCGAGAAGTCAACATAAGCTGAAATCATTAAGAAACCATTTGTGCCTCTAACTACACTACTCAAAACACCACAAAGACAAGTATTCTCTGCTTCTGCCTCTTCCAGAAAAATAGATGTTCTCTGTAACAACACACATTTCTCCTCACAAACCCAACAAGGCCATGGATCAAGAGCAAGTCAGGCTATCAGGCAAGACCTAGGAGACACTGCTAGTAAAATGACTTACCCCCCTCAGACGAAAAATACAACTAGATTTAGAGGAAGCTCATGAAATGTAAGACATCATGCAGCTCACCAGTAGTTACCCAAACTGGAGTAGAAGATAACAGGCTATGGGGCGGGGGTGTACAGTTGCCATGACAGCAAGCTGGCTCAGGCAGT
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AAATACAAAAATTAGTCAGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAGGGAAGCTGAAGCATGAGAATGGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAGGGGATAGAGTGAGACTCTGTCTCAAAAAAATAAATAAATATTATTTAAATATATGTGTATATATATATATATATATATATATATATATATATATATACACACAAAAATCCCATCCCAGCTTCCCCAAAGTAATAATATACTAGACGGTTCTGCAACTTGTTTTCCACACTCTTTTTTTTCCCCCCGGTATTCAGCATGCAGCTATCCTCACTTTCTTTCTTTTTTTTTTTTTGAGACCAAAAAAAAGAGGGAGGCTCACTGCAACCTCCGCCTCTTGGGTTCCAGTGCTTCTCGTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCCCCACCACGCCTGGCTAATTTTTGTACTTTTACCAGAGACTGGATTTTGCTGTGTTGGCTGGGGTGGTCTTGAACTCCTGGCCTCAAGTGATCGTCCACCTCAGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCCTCACTTTCTATAATTTGCATGCTACTCTAATAGTATACACATAGCTGCCTCTTTCATTTTCACAGCTGCACAGTAGTAACGTACCCTTAGAAAGGCACTATTTATTCTGAAAACCCTTAGTTGTCAAGCACCTCTGTTCTAGTTTAACTCACATGTGGCAAGGAGACAACTGGCTATTTTCAAAAACATGAGTTATAATTTGTTTCAAGGGCCATGGTTCTCAACCCTAGGAACACATTAAAATTAGCTGGGGAAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACACTGGGAGGCCGAGGCGGGAGGATCACAAAGGCAGGAGATCAAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCTATAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATTAGCTGGAGAACTTTAAAAACATCAATGCCCAGACCCCTCTTGCAACTGATTCTAATGGAACTGGGATGAGATCTAAGCATCCAGTTTTAAATTCCCCAGTGATTTCCCCCCTCACCCCTACCTATGATTCTAATAATGCAACCAGCGTTGAGAAGGCTTACTAAAAACAGATTGCCAGGCCCCACATCCAAAGTTTCTGATTCAGCAGATCAGCATAGGAGCTGAGAATGTGAATTTTTACCAAGTTCCCAAGTATTGCTGATGCTGCTGGTCTGAGACCTTACTTAGAGAACCTCTGTTTTAGAGAAATTAATCTCACAAATAGAAGCTTATGATCCAGAAAGTAGAAGTCATACTGGTGATCCCATTTTAAGGATCATTAGGCCAATTTGTAAGGAAATACCAATTACAAAAGGGTCACAACATCTAAGTTACCCTTACTGTCTTCAAGGGGACAGAATATGCAGAATAGAAAGGAGATCCTGTGTGATGGAGTTAGTATTTTATTTTTATTGACTGATTGACACAGGGTCTTTCTCTGTCACCCAGGAGTGCAGTGGCGCAATCAGAGCTCACTGTAGCCCCAACTTCCTGGGCTTGAGCCACCCTCCTGCCTCAGCGTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACGCAGCCAGAATTGCTATTTAGAAAACAGGTCTATAAGGAAATCTTGATCAGAACTATTATGAACTTTTAAAATCCACACTCCATCAGGCTTCCCTACACACCTCTCACTCTCATCAGCAGCTTTTTCAGCTTCTTCCAGCTTTTGCAGGGCAGTGGCCAGGCGCTCCTGAGCACGGTCCAGCTCTTCTTCAACCAGCTGGATCCTACAGTTCAAGGAGGCCACCTCAGCCTCAGCCTGCATTTGAAGGAAAGAATGGACAAGGGAAGCAGAGGCATGGAGAAAAGAAGAAATAACTATGACATTAAGATCAGGGTTGACTACCATGAAAAAGCCAGAGTCTCGCAGGGTAGAACTTGTCTTAGCTCAGCTGTTAAAAGATCTAGCAGACATAACTTTATATATATATATTTCCTCCCTTTCCCATCAACGAACTCCCATATGTTCCACAGGAAGAGTGTTTTAAAACTCAGTTCCTTGCCCAGCCCAGTGAGTTAGTACCACCCACTTCCTGGACTCAGTTCAAATTCCTCAACACACTGGAGTCAGAAAAGAAAGTCAATGAAGGGTTCCTTCTGCCTGAGCTCTGGCTTGGAGGCATGTCTCATCCTCAGTAACCTTTCAAGTGTCTCATAAAGCAGGAAAAAAAAAAAAAAAAAAGCAAGGTTTCTTAAAGAGGGTATCCTGACTGGGTGTGGTGGCTCATGCCTGTAATCCCAGTATTCTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAATTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGACTCTAATAAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGTACCTCTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCCCTTGAACCCGGGAGGCAGAGGTTGTACTGAGCTGAGATTGCGCCACTACACTCCAGCCTGGGCAACACGGTGAAACTCCATTTCAAAAAAAAAAAAAAAAAAAGAGGGAATCCTGGATTACCTATTAATTGCTGCTTAACTCAAACCGTTATTCCTATGATCACTTTACCCTAACACATCAGAAGAATAACTAGCCAAGGGAATGTCTTCCAGAATAGCCTTCCAGACTGGAAAGCAAAAGAATGGAATATTGTTGGGATGCCTACTCACCAGCCCTTCAACTTGTGCCCCCGTACTCCTTTTTTAAGTTGGCTACAAGGAGCTGCTTCTGGCTAAAATTATCTGCTTTGATAGCTTTACAAAAAAGAAAGAACATTTCCACCACACCCACTACCATTCCTCCAAATTTCTGAATTTTCTCCTTTCTATTCCTCCAGCCATCCCCTTAGCTTCACCCTCTAATACAGCGACAATCTTCCCCCTGGCCTCCATCTCACAATGAAGTATATAGGTTAGAGTCCAAGTAAACCCATCCTGGATGGGTTTTCTCTAAGAAACAAGGAAAGAAGGAGGCAGCCTGCAGGTGGATGGATAAATTCTAATGGTAGGAAAACCTCTTTCCATGACTGCCTCCCCGCTACCTTTACTGGTGGGAGGTACCCTGACTGCAACAGTATACAAGAATTTAATATGCCCCGCACACCACCCAGTTCAGATGCTTATCCAAGTGCCTGGTAAACACGATCTCTCTTCTATAGCCCAGATTGTGCCTGAATTCTATTACCCTGATTTCTTCCTGGCAGGCAGGAGTTGGTGCAGCTATAGAAACAGCCTGGGCCACTAGCTCCGATGAGGAAGAATATAGACCAAAAGACTCCTTTTTAACCATCAGGACTGGCACAAAAACTTCCACATACAAACATGAGAAGCTGAAGAGACTAGGAAGGGAAGCAGAGGGCTGGGGCTACAATCTAGCCACCAGGCAAAGAAAATCGAGAAGTCAACATAAGCTGAAATCATTAAGAAACCATTTGTGCCTCTAACTACACTACTCAAAACACCACAAAGACAAGTATTCTCTGCTTCTGCCTCTTCCAGAAAAATAGATGTTCTCTGTAACAACACACATTTCTCCTCACAAACCCAACAAGGCCATGGATCAAGAGCAAGTCAGGCTATCAGGCAAGACCTAGGAGACACTGCTAGTAAAATGACTTACCCCCCTCAGACGAAAAATACAACTAGATTTAGAGGAAGCTCATGAAATGTAAGACATCATGCAGCTCACCAGTAGTTACCCAAACTGGAGTAGAAGATAACAGGCTATGGGGCGGGGGTGTACAGTTGCCATGACAGCAAGCTGGCTCAGGCAGT
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Task1_train_1573
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Here’s a variant in TPM3 (tropomyosin 3) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Congenital myopathy 4A, autosomal dominant
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ATTGACTTATTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTAGAGTGCAGTGGTACGATCTCGGCTCCATGCAGCCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCCAAATATGATTTTAAATATTACATGCTCCTTTTTTCCTATTAACTCAGTTCACTGAGAAACTTGTTTCCACCAATACTGGGACATTTCTGTTGTTGTTGGTAAGATTCCTATGGTACTTTTCTTCTAAAAAACTTTTCAATCTACTCTCTCATTTATCTTTGCAGCAAACTTCAAGGTTAAAGATGAAGGAAAGTAGGTGATGATGATGGGATAATATGAGATGGAAAAGAGAATTTATTTTATTTGAGAATGGGAAAATTCAGCCCTAGACAAGCTGAGTAATTACTCACGGTCATAGAGTGAAGTCTGGTGGTGATACCTTTACCCCCTAAGATTCTTTCTTAGTTTCTATTATACTCTGTCACTGTAGGGATCTCTCTGCTGCCCTAGGAGCAATGCTTCATATGGCATCTCCATGGCATAAAGGCAAATGCCTGCATTGGCCAAGATAAATAAACCCATATATGGCCAGGGTCAGTGTGACCTCCATTTCCCATTGTGAAATCCGAGCTGGTTTTGTTGGACAGTTGAGAGATGAGAGGTTCCCTATTAATACACATATCCACATGCCAAGACTTGGACATAAAAGCTAAGAATGTGGCATGGGGGAGGAGGTAGGATAAGTGACAGCATTCTGAACTTAGAGTCCCCTCTCTTTGTCCAGGTCCTGGGAAAGATAATTAAATTCCTGGGTTGGTGATAGGAGATAAATGAGACCTTTACATGTATTAAAAAAAAACTTTTAACATGTTGGAGATGTCTTTAAGAAAGAAAATACATGCCATTATGAGAATATACCAGCATGTGGTTATATGCAAAAATGTATGTGAGTATATATGTCTGTGTTCCATGAACCCACAAGTGTGTTTGGAATTTCGTCATACATTAACATAAAGATCTATATGTGTAGATTAAACCCATCCTCCATCTCTCTAATACTCACATCAGCAGCCTTCTTCTCTGCCAGTTCCAGCTTCTCCTGGGCATCCTTCAAAGCTTCAGAATACTTGTCCAGCTCATCCTCTGTCCCTTTCAGCTTCTTCTGCATGGCTGCCAGCTCATCCTCCAGCTATAGGAGCCCAGAGAGTCACACACAAAAACACACAAACACAACAATGCAGGGTTGGACCCTGGGCTCTTGGAGCCCTGAGTGTAACCTCCATGTTACCATCCCTAGTGAGACACACTTTCTCCCCAGCCACTTCCAGCCCACTGCCTCAGGAGTTATGCCGTAGCTTGGCCTGTGACCCTGTAATCTCTGATCCTAAGATGACCAAGCCATCCTGGGTTTTCATCCAAGACCCCTGGATGATAAATATCTAAAGTGTAGATGCCCGTGATGCTATTTGAGTGAAAAGAGATGCTCTTTCCCTCTAGAACTCTTACCTTTTCCTCTAGAAGTCAAGGGTTCTTCCAAAACATGGTCCATTTCTACTTAAATTCAGCAGACATACTGTGGCTCACTGACTTTCCCAAGGTCACAAAGGCAGTCTGAGACAGATATGTTAGATATCCTCTGCTCCTCCAGTGAGGCTGGGGAGTCCATCCCACCCCCAAAAAGGAGGTGACACCAGTAGTCACTGTCTTTCCCATGAAAACTCCCTTCCATTTCACAGTCTTGTTCACTAGCAGATGAGAGAGATCAATGCCAGTGCCTACCTGTTTACTTCTTTCTTCTGCCTGCTTCTGCTCAGCTTCAGCTTGCTCTGCCCGATCCAGAGCATTCTCCTTGTCTAACTTCAGCATCTGCATCTTTTTCTTGATGGCCTCCATCATGAGCAGTGGCTGTTGGTAGGCTCACCTGTGAACACTGGAGAACTGGAGACTGGGGCAAGAAAGAAGGGGCTGCTGCCTGAGTGACCAGGAGGTCCCCAGACTTGAGTCTTTATCTGTGCTCATAGCTCCACCTTTTGTTCCTAATATGGTCTTTCCAGCTCCCTCCACCCCATCATTGTTCTCCTGGGGGAACACAGGGTGAGACGCTTTGATGAACTGACATCACCAGCAAAAAAAATATCTAGCAACAGCTGAGGCTGATTTTAGACAATGGAAAGTGGGGGAGGGAAGAGGTTCTCCCTGACCCTGAAACTTTCCACTCATTCTGGGCAGCTCTATGGATGTTTTAAAAGAAGAGGAAGAGGGGAGGGAAGAACATTGAAATAGAGAAGTGTACTTTGGCAATTCTAGGTTGGCAGTTTGCATCCAGGGGGTCCTGGTTGCCTTTCAGCTTCCCGTTTCACTCTCCCCCAGACTGTGTTGAATGCTGGTCAAACTCCGTTAGTTGAGTTTTAGCTTTTGATTCCTGGTATTCAAGGAGCTTGGGCACAGGGAAGAGGGGAGGTCACTCATGATCCTTAACAATTCTCCCAGATCCCCAGATCAAATTGCTGTGCTATTCTGGGAGTCTCCGATTGGCAGGGAGACGTTTTTCCTCCCCACCAAGAGCCACAAGAGTAGAGTAAGAGGTAGGGTTGGAATCTCCAACCCTATCCTTGAAGGCTATCCCAGAGCTTCAAGTGGGGTGGGGAGAGAAACAGGGGAGGGTCAGAACAATCCAGACAGGATCATACCCTTTGTTTTCCCACAGTAATCTTAAAATAGAACTGTTGTACCCACACAGACTTTGGTCTGTGTGGCTCTCTCCTCTTCTTCCCTTTATCTTCTCCCTTCTTAATTCTCCCCAACGCTGCCACTCACCACATCATCGTAATCATCATTATCAGCTCTATTCTTTCCAGTTTAGTTCCAGACCATGTTTATTCTTCCATTGGGAGCCTTGTTACTAACAGGTGGCAAGGATACCAGTCCACTGGCACCATACACCTGAAAATATGCCAAGGGAGAGGTGGGCACTGTTCAAGGTGACCAGATATATTGGACAAATATAAATGGCTCTAGTTAGTCATTTATGTCAGGATACTGAGAGTTAATGCTAAGCCCCAGCAATGGGGGAACGGAGACACCCACCAGGCCAGTGGGTAGAGCAGAGCTGGAGTCCACTATTGAGAGCTTCCAGTCACTAGAGGTAGATAGGCAGATAGACCATCAGCTGACTCTCGACAGAGAGAGGAGAAACCAAGTCTCCTTTCTCTGGAGATTAGCCAGGGAAAGGGGTTAGGGAACAGGGAGAGGAAGGAGTGGAAAATGGGGGGGGGGTGGGCAAGTGAATAAGGGGGAGAAAAATACGAGGACAAGAAAAGGCAAAGAAATGTCCCTTCTAGTATAAGGGGACAAGAAATAGAAAGATTCTATCCTCAAATTCCAACTCTCTCCCATTCCCACACCAGCCCTCTTAGGTTAAGATTGAAATGCACATAGGTTGCAGCTACTGGACTTTTGGGGGGGTCCTGGAGAGAAGAGGTTCAGTAAAAGAGACAGGAGCCCCAGAGATTGAAGTATGAAAGAGGGTGGTGCTGAATCACCTGCTGCTGTAAGAATATGTTTGACATTTAGTTGGTTCCTAATTAAACAACCCAATATCAAACATATCACACAGAAGCAGGCAGGAGAGCTTTGGGGGTCATCTGCCTTCCTTCCAGTTGCAAAGAAAGAATAGAGCAGACACCAGGCACCAATCATGTCTAGGTGGAGAGCCATCTCCTTGAGGAAGGGTACTGGCTCCTGCTCTTCACCTCCCAAGACAGCCAGCTCTTGCTTATTGTCCTACGTGTCATCCCTGCCTCAGCTCCTCCTCTACAAGCTCCTGGCCTTTGCTGGATCACGTTGGCCTAAACCAGGAAGAATACCTGGCAGGGCTCCACATCCGGGCAACTATCGTTCCCTAGAGCTCCCACACAG
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ATTGACTTATTTTTTGAGACAGAGTCTCTCTCTGTTGCCCAGGCTAGAGTGCAGTGGTACGATCTCGGCTCCATGCAGCCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTACTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCCAAATATGATTTTAAATATTACATGCTCCTTTTTTCCTATTAACTCAGTTCACTGAGAAACTTGTTTCCACCAATACTGGGACATTTCTGTTGTTGTTGGTAAGATTCCTATGGTACTTTTCTTCTAAAAAACTTTTCAATCTACTCTCTCATTTATCTTTGCAGCAAACTTCAAGGTTAAAGATGAAGGAAAGTAGGTGATGATGATGGGATAATATGAGATGGAAAAGAGAATTTATTTTATTTGAGAATGGGAAAATTCAGCCCTAGACAAGCTGAGTAATTACTCACGGTCATAGAGTGAAGTCTGGTGGTGATACCTTTACCCCCTAAGATTCTTTCTTAGTTTCTATTATACTCTGTCACTGTAGGGATCTCTCTGCTGCCCTAGGAGCAATGCTTCATATGGCATCTCCATGGCATAAAGGCAAATGCCTGCATTGGCCAAGATAAATAAACCCATATATGGCCAGGGTCAGTGTGACCTCCATTTCCCATTGTGAAATCCGAGCTGGTTTTGTTGGACAGTTGAGAGATGAGAGGTTCCCTATTAATACACATATCCACATGCCAAGACTTGGACATAAAAGCTAAGAATGTGGCATGGGGGAGGAGGTAGGATAAGTGACAGCATTCTGAACTTAGAGTCCCCTCTCTTTGTCCAGGTCCTGGGAAAGATAATTAAATTCCTGGGTTGGTGATAGGAGATAAATGAGACCTTTACATGTATTAAAAAAAAACTTTTAACATGTTGGAGATGTCTTTAAGAAAGAAAATACATGCCATTATGAGAATATACCAGCATGTGGTTATATGCAAAAATGTATGTGAGTATATATGTCTGTGTTCCATGAACCCACAAGTGTGTTTGGAATTTCGTCATACATTAACATAAAGATCTATATGTGTAGATTAAACCCATCCTCCATCTCTCTAATACTCACATCAGCAGCCTTCTTCTCTGCCAGTTCCAGCTTCTCCTGGGCATCCTTCAAAGCTTCAGAATACTTGTCCAGCTCATCCTCTGTCCCTTTCAGCTTCTTCTGCATGGCTGCCAGCTCATCCTCCAGCTATAGGAGCCCAGAGAGTCACACACAAAAACACACAAACACAACAATGCAGGGTTGGACCCTGGGCTCTTGGAGCCCTGAGTGTAACCTCCATGTTACCATCCCTAGTGAGACACACTTTCTCCCCAGCCACTTCCAGCCCACTGCCTCAGGAGTTATGCCGTAGCTTGGCCTGTGACCCTGTAATCTCTGATCCTAAGATGACCAAGCCATCCTGGGTTTTCATCCAAGACCCCTGGATGATAAATATCTAAAGTGTAGATGCCCGTGATGCTATTTGAGTGAAAAGAGATGCTCTTTCCCTCTAGAACTCTTACCTTTTCCTCTAGAAGTCAAGGGTTCTTCCAAAACATGGTCCATTTCTACTTAAATTCAGCAGACATACTGTGGCTCACTGACTTTCCCAAGGTCACAAAGGCAGTCTGAGACAGATATGTTAGATATCCTCTGCTCCTCCAGTGAGGCTGGGGAGTCCATCCCACCCCCAAAAAGGAGGTGACACCAGTAGTCACTGTCTTTCCCATGAAAACTCCCTTCCATTTCACAGTCTTGTTCACTAGCAGATGAGAGAGATCAATGCCAGTGCCTACCTGTTTACTTCTTTCTTCTGCCTGCTTCTGCTCAGCTTCAGCTTGCTCTGCCCGATCCAGAGCATTCTCCTTGTCTAACTTCAGCATCTGCCTCTTTTTCTTGATGGCCTCCATCATGAGCAGTGGCTGTTGGTAGGCTCACCTGTGAACACTGGAGAACTGGAGACTGGGGCAAGAAAGAAGGGGCTGCTGCCTGAGTGACCAGGAGGTCCCCAGACTTGAGTCTTTATCTGTGCTCATAGCTCCACCTTTTGTTCCTAATATGGTCTTTCCAGCTCCCTCCACCCCATCATTGTTCTCCTGGGGGAACACAGGGTGAGACGCTTTGATGAACTGACATCACCAGCAAAAAAAATATCTAGCAACAGCTGAGGCTGATTTTAGACAATGGAAAGTGGGGGAGGGAAGAGGTTCTCCCTGACCCTGAAACTTTCCACTCATTCTGGGCAGCTCTATGGATGTTTTAAAAGAAGAGGAAGAGGGGAGGGAAGAACATTGAAATAGAGAAGTGTACTTTGGCAATTCTAGGTTGGCAGTTTGCATCCAGGGGGTCCTGGTTGCCTTTCAGCTTCCCGTTTCACTCTCCCCCAGACTGTGTTGAATGCTGGTCAAACTCCGTTAGTTGAGTTTTAGCTTTTGATTCCTGGTATTCAAGGAGCTTGGGCACAGGGAAGAGGGGAGGTCACTCATGATCCTTAACAATTCTCCCAGATCCCCAGATCAAATTGCTGTGCTATTCTGGGAGTCTCCGATTGGCAGGGAGACGTTTTTCCTCCCCACCAAGAGCCACAAGAGTAGAGTAAGAGGTAGGGTTGGAATCTCCAACCCTATCCTTGAAGGCTATCCCAGAGCTTCAAGTGGGGTGGGGAGAGAAACAGGGGAGGGTCAGAACAATCCAGACAGGATCATACCCTTTGTTTTCCCACAGTAATCTTAAAATAGAACTGTTGTACCCACACAGACTTTGGTCTGTGTGGCTCTCTCCTCTTCTTCCCTTTATCTTCTCCCTTCTTAATTCTCCCCAACGCTGCCACTCACCACATCATCGTAATCATCATTATCAGCTCTATTCTTTCCAGTTTAGTTCCAGACCATGTTTATTCTTCCATTGGGAGCCTTGTTACTAACAGGTGGCAAGGATACCAGTCCACTGGCACCATACACCTGAAAATATGCCAAGGGAGAGGTGGGCACTGTTCAAGGTGACCAGATATATTGGACAAATATAAATGGCTCTAGTTAGTCATTTATGTCAGGATACTGAGAGTTAATGCTAAGCCCCAGCAATGGGGGAACGGAGACACCCACCAGGCCAGTGGGTAGAGCAGAGCTGGAGTCCACTATTGAGAGCTTCCAGTCACTAGAGGTAGATAGGCAGATAGACCATCAGCTGACTCTCGACAGAGAGAGGAGAAACCAAGTCTCCTTTCTCTGGAGATTAGCCAGGGAAAGGGGTTAGGGAACAGGGAGAGGAAGGAGTGGAAAATGGGGGGGGGGTGGGCAAGTGAATAAGGGGGAGAAAAATACGAGGACAAGAAAAGGCAAAGAAATGTCCCTTCTAGTATAAGGGGACAAGAAATAGAAAGATTCTATCCTCAAATTCCAACTCTCTCCCATTCCCACACCAGCCCTCTTAGGTTAAGATTGAAATGCACATAGGTTGCAGCTACTGGACTTTTGGGGGGGTCCTGGAGAGAAGAGGTTCAGTAAAAGAGACAGGAGCCCCAGAGATTGAAGTATGAAAGAGGGTGGTGCTGAATCACCTGCTGCTGTAAGAATATGTTTGACATTTAGTTGGTTCCTAATTAAACAACCCAATATCAAACATATCACACAGAAGCAGGCAGGAGAGCTTTGGGGGTCATCTGCCTTCCTTCCAGTTGCAAAGAAAGAATAGAGCAGACACCAGGCACCAATCATGTCTAGGTGGAGAGCCATCTCCTTGAGGAAGGGTACTGGCTCCTGCTCTTCACCTCCCAAGACAGCCAGCTCTTGCTTATTGTCCTACGTGTCATCCCTGCCTCAGCTCCTCCTCTACAAGCTCCTGGCCTTTGCTGGATCACGTTGGCCTAAACCAGGAAGAATACCTGGCAGGGCTCCACATCCGGGCAACTATCGTTCCCTAGAGCTCCCACACAG
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Task1_train_1574
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This alteration occurs within gene IL6R (interleukin 6 receptor) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Hyper-IgE recurrent infection syndrome 5, autosomal recessive
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GAACTCCTGACCTCATGATCTGCCTGCGTTGCCCTCCCAAAGTGCTAGAATTACAGGCGTGAGCCACCGCGCCCGGCCTTATTTCTCAGTCTTAACAGAACCAGCCACGTGTGATTGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGCAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTTGCTGGGCACGCTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGGAGGCGGAGGTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGTGACACAGTGAGACTCTATCACAAAAACAAAACAAAACAAAAACTTAACCCCTACTAGGTAAGTAGTATTAATATTCCTATTTTCAAATGAGAAAAGGAGACTTAGAGGCACAGGGCTTATAAGTCTGGAGCTGGGATTCAAACCCCGGGATTCCACTTCCCCCTTCTGTCCCGTCTTGAGTCTGTGCGAAACTGACAGGCAAGCCCTGCCCTTGTTTTGTGTCTAACAGTCAGAACAGTCCGGCCGAAGACTTCCAGGAGCCGTGCCAGTATTCCCAGGAGTCCCAGAAGTTCTCCTGCCAGTTAGCAGTCCCGGAGGGAGACAGCTCTTTCTACATAGTGTCCATGTGCGTCGCCAGTAGTGTCGGGAGCAAGTTCAGCAAAACTCAAACCTTTCAGGGTTGTGGAATCTGTACGTAAGCTCTAACCCCCTCTCCAGCAGTTTCCTTCTCTTTTGATTTAATACTCCTTATCGACTTCTCAGAGTGGCAGGGAAGGGGTGGTTGAGGGGTTTGGTGAGTTGGTGCCTTTTGGGCGTTGCTTGCCGGGAGGTGTGGCAATGATAAAGCAGGCCCTTGTGGAGCTGTGCATGGGGAGTGAACGGGGCTGGGTGGGGCCCTGCTTGCTGGGATCTCAGCCTACATGGGCTTCTCTACACTATATTTGGTGCTGCAAAGGAGTCATGCTCACTTTTCCCACAGTGCAGCCTGATCCGCCTGCCAACATCACAGTCACTGCCGTGGCCAGAAACCCCCGCTGGCTCAGTGTCACCTGGCAAGACCCCCACTCCTGGAACTCATCTTTCTACAGACTACGGTTTGAGCTCAGATATCGGGCTGAACGGTCAAAGACATTCACAACATGGATGGTAAATTTATGTTTTACTTCTGGTCAGAGAGGCGCCCCTAGATGCTTAGGCGTAGTAGAAAGGGTACTAGAGGCCAGGCATGGTGGCTCACGCCTGTAATCCCGGCCCTTTGGGAGGCCAAGGTGGGCGAATCACTTGAGGTCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAATACCGTCTCTACTAAAATTACAAAAAATTAGCTGGGTGTGGTGGCGCACGCCTGTATCCCAGCTATTCGGGGGCTGAGACAGGAGAATCCCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCAGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTTAGACTCCATGTCAAAAAAAAAAAAAAATAGAAAGGGTACTAAAAGGAAAACCATAGGCTCTAGTTCCTGCTTCACAATTGGCTACCTTCGTTGCTTTGGATAAATGTTTTAAGCTTTCTGAGCCTTGGTGGTATATCATTTATTAAATGAAAAGGATAATGCCAGGCCAGTCTCCTCTTCCCGGGCTTGTCTGTGAGGAGAGCAATGTGGGAAGAGATTTGGGCTGTAGACATGTCAAGGGTTGTGGCTTGCAGGATTCTATAGTGCATGGGTGGGGCAGGGACTTTCTGCTTCAGCTTCCGTGGGCCCTGAGGGCAACCCCCTCTCTAGCAGAGCCTCTGGGGTTGTGGGAGCCTCTAGAGGCCTCTGCCAGCTGAAGCACAGGGCTGGCCAAGGCACCAACCCACTGGGGTGCTACCTGCCCAGCACCATCCTGGATACCTCCCCAGAGTCACCGTGCCCCCGCCCTCAGGTCAAGGACCTCCAGCATCACTGTGTCATCCACGACGCCTGGAGCGGCCTGAGGCACGTGGTGCAGCTTCGTGCCCAGGAGGAGTTCGGGCAAGGCGAGTGGAGCGAGTGGAGCCCGGAGGCCATGGGCACGCCTTGGACAGGTACTGCGGTGGGCACTGAGAAAGGAAGGGATGTTTCAACTGTCATTGCATCAGGTATCCATTGCTATGTGACAAGTTGCCTCAAAACTAGTGGCTTAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATTGCCTGAGGTCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACGAAAAATACAAAAAATTAGCTGGACATGGTGGCAGGTGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAAATCGCGCCACTGCACTCCAGCCTGGGTGATAAGAACGAAACTCCGTCTCAAAACAAACAACTAGTGGCTTAAAAACGACCATCATTTATCGGCTTGAAATTTCAAAAATACAGTCAGTTAGGCAGCTCTTCTGCTGGTCTTGCCTGAATCAGGAATGCAGCTGCCATCAGATTGGGATGGTCTGAGATGGCCTCAGTCACATGTCTGACGATGGTGCTGGCTGGTGGCCGAGGCCCTGGGTTCTCCCTGTGGCTTCTCATCCTCAGCTGCCAGCCCAGACTCAGGGCAGGCGGGTGGGGATCCCACCACAGCTGGAGGGATGCACTGCAGAGAAGTTAGCCGTATTTAATCTAGGGCTTTTTATTTTTTTCAAATGTTAAAGGTAGTAATAATTGCCATTGGGGATTGTTGAAATTAGAGCATGAAAAATTCCAGAAAGATATGAAGAATAATTATCACCAGTACTTTTACTCCCTAGAGAAAACCAGTGAGAACATGTTAGTATGCTGCTTTCCTTTTTCTAGGTACATGTATGTGTGTGTGTATTTATATATATAAATGTAATATTCCCCATGTTGTCAATTACTTTTGGAAACTTATTATTTAGTAACTGCCTGATTAATACATATATTTTAAAACTCCATGGAAATTTGTTGTTGTTGTTGTTGTTTTGTTTGTTTGTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAAGCTCCGCTTTCCAGGTTCATGCCATTCTCCTGCCTCAGCCTGCCGAGCAGCCGGGACTACAGGCACCTGCCACCACGCCCAGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACTGTGCCCGGTCGGAAATTTTTTTTAACTTAAATTTTTTTTTTTTTGAAGACAGGCTTTCTCCTCGTTGCCCAGGATGGAGTACAGCAGTGCAATCACAGCTCACGGCAACTTCTGCCTCCTGGGTTCAAGCAATCCTCCCGCCTCAGCCTCCTAAGTAGCTGGGACCACAGGCGTGTGCCACAATGCTAATTTTTTAAAAATGTTTTGTAGAGACAGGGTTTCACCATGCTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCAGCCTCAGACTCCCAAAGTGCTGGGATTACTGGTGTGAGCCACTGCACCTGACTAAACTTTAAATTTTTTTTTTTAGACGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATATTGGCTCACTGCAAGCTCTGCCTCTTGGGTTCACGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCACGCCCGGCTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGCCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAAACTTTTAAAATTTTAATCAAATTAATAC
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GAACTCCTGACCTCATGATCTGCCTGCGTTGCCCTCCCAAAGTGCTAGAATTACAGGCGTGAGCCACCGCGCCCGGCCTTATTTCTCAGTCTTAACAGAACCAGCCACGTGTGATTGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGCAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTTGCTGGGCACGCTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGGAGGCGGAGGTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGTGACACAGTGAGACTCTATCACAAAAACAAAACAAAACAAAAACTTAACCCCTACTAGGTAAGTAGTATTAATATTCCTATTTTCAAATGAGAAAAGGAGACTTAGAGGCACAGGGCTTATAAGTCTGGAGCTGGGATTCAAACCCCGGGATTCCACTTCCCCCTTCTGTCCCGTCTTGAGTCTGTGCGAAACTGACAGGCAAGCCCTGCCCTTGTTTTGTGTCTAACAGTCAGAACAGTCCGGCCGAAGACTTCCAGGAGCCGTGCCAGTATTCCCAGGAGTCCCAGAAGTTCTCCTGCCAGTTAGCAGTCCCGGAGGGAGACAGCTCTTTCTACATAGTGTCCATGTGCGTCGCCAGTAGTGTCGGGAGCAAGTTCAGCAAAACTCAAACCTTTCAGGGTTGTGGAATCTGTACGTAAGCTCTAACCCCCTCTCCAGCAGTTTCCTTCTCTTTTGATTTAATACTCCTTATCGACTTCTCAGAGTGGCAGGGAAGGGGTGGTTGAGGGGTTTGGTGAGTTGGTGCCTTTTGGGCGTTGCTTGCCGGGAGGTGTGGCAATGATAAAGCAGGCCCTTGTGGAGCTGTGCATGGGGAGTGAACGGGGCTGGGTGGGGCCCTGCTTGCTGGGATCTCAGCCTACATGGGCTTCTCTACACTATATTTGGTGCTGCAAAGGAGTCATGCTCACTTTTCCCACAGTGCAGCCTGATCCGCCTGCCAACATCACAGTCACTGCCGTGGCCAGAAACCCCCGCTGGCTCAGTGTCACCTGGCAAGACCCCCACTCCTGGAACTCATCTTTCTACAGACTACGGTTTGAGCTCAGATATCGGGCTGAACGGTCAAAGACATTCACAACATGGATGGTAAATTTATGTTTTACTTCTGGTCAGAGAGGCGCCCCTAGATGCTTAGGCGTAGTAGAAAGGGTACTAGAGGCCAGGCATGGTGGCTCACGCCTGTAATCCCGGCCCTTTGGGAGGCCAAGGTGGGCGAATCACTTGAGGTCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAATACCGTCTCTACTAAAATTACAAAAAATTAGCTGGGTGTGGTGGCGCACGCCTGTATCCCAGCTATTCGGGGGCTGAGACAGGAGAATCCCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCAGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTTAGACTCCATGTCAAAAAAAAAAAAAAATAGAAAGGGTACTAAAAGGAAAACCATAGGCTCTAGTTCCTGCTTCACAATTGGCTACCTTCGTTGCTTTGGATAAATGTTTTAAGCTTTCTGAGCCTTGGTGGTATATCATTTATTAAATGAAAAGGATAATGCCAGGCCAGTCTCCTCTTCCCGGGCTTGTCTGTGAGGAGAGCAATGTGGGAAGAGATTTGGGCTGTAGACATGTCAAGGGTTGTGGCTTGCAGGATTCTATAGTGCATGGGTGGGGCAGGGACTTTCTGCTTCAGCTTCCGTGGGCCCTGAGGGCAACCCCCTCTCTAGCAGAGCCTCTGGGGTTGTGGGAGCCTCTAGAGGCCTCTGCCAGCTGAAGCACAGGGCTGGCCAAGGCACCAACCCACTGGGGTGCTACCTGCCCAGCACCATCCTGGATACCTCCCCAGAGTCACCGTGCCCCCGCCCTCAGGTCAAGGACCTCCAGCATCACTGTGTCAACCACGACGCCTGGAGCGGCCTGAGGCACGTGGTGCAGCTTCGTGCCCAGGAGGAGTTCGGGCAAGGCGAGTGGAGCGAGTGGAGCCCGGAGGCCATGGGCACGCCTTGGACAGGTACTGCGGTGGGCACTGAGAAAGGAAGGGATGTTTCAACTGTCATTGCATCAGGTATCCATTGCTATGTGACAAGTTGCCTCAAAACTAGTGGCTTAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATTGCCTGAGGTCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACGAAAAATACAAAAAATTAGCTGGACATGGTGGCAGGTGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAAATCGCGCCACTGCACTCCAGCCTGGGTGATAAGAACGAAACTCCGTCTCAAAACAAACAACTAGTGGCTTAAAAACGACCATCATTTATCGGCTTGAAATTTCAAAAATACAGTCAGTTAGGCAGCTCTTCTGCTGGTCTTGCCTGAATCAGGAATGCAGCTGCCATCAGATTGGGATGGTCTGAGATGGCCTCAGTCACATGTCTGACGATGGTGCTGGCTGGTGGCCGAGGCCCTGGGTTCTCCCTGTGGCTTCTCATCCTCAGCTGCCAGCCCAGACTCAGGGCAGGCGGGTGGGGATCCCACCACAGCTGGAGGGATGCACTGCAGAGAAGTTAGCCGTATTTAATCTAGGGCTTTTTATTTTTTTCAAATGTTAAAGGTAGTAATAATTGCCATTGGGGATTGTTGAAATTAGAGCATGAAAAATTCCAGAAAGATATGAAGAATAATTATCACCAGTACTTTTACTCCCTAGAGAAAACCAGTGAGAACATGTTAGTATGCTGCTTTCCTTTTTCTAGGTACATGTATGTGTGTGTGTATTTATATATATAAATGTAATATTCCCCATGTTGTCAATTACTTTTGGAAACTTATTATTTAGTAACTGCCTGATTAATACATATATTTTAAAACTCCATGGAAATTTGTTGTTGTTGTTGTTGTTTTGTTTGTTTGTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAAGCTCCGCTTTCCAGGTTCATGCCATTCTCCTGCCTCAGCCTGCCGAGCAGCCGGGACTACAGGCACCTGCCACCACGCCCAGCTAATTTTTTCTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACTGTGCCCGGTCGGAAATTTTTTTTAACTTAAATTTTTTTTTTTTTGAAGACAGGCTTTCTCCTCGTTGCCCAGGATGGAGTACAGCAGTGCAATCACAGCTCACGGCAACTTCTGCCTCCTGGGTTCAAGCAATCCTCCCGCCTCAGCCTCCTAAGTAGCTGGGACCACAGGCGTGTGCCACAATGCTAATTTTTTAAAAATGTTTTGTAGAGACAGGGTTTCACCATGCTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCAGCCTCAGACTCCCAAAGTGCTGGGATTACTGGTGTGAGCCACTGCACCTGACTAAACTTTAAATTTTTTTTTTTAGACGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATATTGGCTCACTGCAAGCTCTGCCTCTTGGGTTCACGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACCACGCCCGGCTAATTTTTTTTTTTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGCCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAAACTTTTAAAATTTTAATCAAATTAATAC
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Task1_train_1575
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This genomic variant is located on Chromosome 1, within the CHRNB2 (cholinergic receptor nicotinic beta 2 subunit) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 3
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CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCGTGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
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CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCATGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
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Task1_train_1576
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This variant lies on Chromosome 1 and affects the gene CHRNB2 (cholinergic receptor nicotinic beta 2 subunit). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 1
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CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCGTGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
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CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCATGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
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Task1_train_1577
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This gene mutation involves CHRNB2 (cholinergic receptor nicotinic beta 2 subunit) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy
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CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCGTGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
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CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCATGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
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Task1_train_1578
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Chromosome 1 houses a mutation in gene CHRNB2 (cholinergic receptor nicotinic beta 2 subunit). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Inborn genetic diseases
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CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCGTGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
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CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCATGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
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Task1_train_1579
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This variant affects gene CHRNB2 (cholinergic receptor nicotinic beta 2 subunit) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 3
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CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCGTGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
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CCAGCTACTGAAATCAGCCCCGCCAAAATGTGTTAATGCTTGTGTGCTTCCTCCCCTGGTGTTTCCAAGGCTTGGGGAGGTGTGAGAGGGACCCTGGGTGGTGGCAGTGACCCCACAGGCTTAGGGGCCTTCTCGGCAGCCTCTCTTCCTCCCTGCAGCATGAGCGGGAGCAGATCATGACCACCAATGTCTGGCTGACCCAGGTAAGCGTAAGTGCTCTCTTCCACCCACACCCCTGGCCTTCTCTCTCCTCCTTTTTCCCCATGTGCTTTTTTCTTTCTTAATCTCTCAAAACAGGCAGAAAGGTATAGAGTTTGGAGTCCTAAACAATTGGATTTGAATCTTGGCACTCACCAGCCTTGTGACTTTAAACATATTAAACTCTCCAAGATTCATTTTCTCATTTGTAAATGTAGATTCTAATACTGTACCTTGGCCTAGCTGTGCAAATTAAATGAGAAAGTACCACATGAGCCATACCTGATGGGCAGAGAAGTCACTGTGGGGAAGAGGCTGGCTTTTAAAAGGTCCCTCAAGCCATATGGGCCCCCTCTAGTTCGTTTCCTTAACCTTGAGCCCCACCCAGGGCACAAGTTGGTACTGCCTCCCTCTCTCATTTCCCAGGAGTGGGAAGATTATCGCCTCACCTGGAAGCCTGAAGAGTTTGACAACATGAAGAAAGTTCGGCTCCCTTCCAAACACATCTGGCTCCCAGATGTGGTCCTGTACAACAAGTAGGTGCAATGGGAAGGTTGGGGGAGACCATTGGAGGGCTCAGGGAGGGAAGGGGTTCTGGGGAAAATAAGAGAAATTACTTATGCTGTGGGAGGGGAGGGACTTATAATAGATATGTAGTCACTACCTAGACAGACAGACCCAGACCAGTGAGGTACAGCGTGGACAGCCAAGGTGACCTGGGCAATGACCAGCCCACTCCCAGCCGGTTAGGACTCCCAGTATGTATTTGATGATGTGGTGGGGATACAAACAAGTATTGACAGCCCCCAGCGCCTCAACTGATTCAGGAACAGGCTTTCCTGGAAGCCTGGGAAGGATCAAAGAACTTTAAGGTCCCAGTTTCTCCTCCAGGTTCTATCCTGTCTCCTGCAATAATCCATCTTATCTCTAGGGTACAAAGCCACCTTCCTCAACTGATGGGACCATGCCCTGTCCCCTTCCATTGCTTGGGGCTCCTCACTCTGGCCTCCTGGCTCCCCTGACTTCTCCACCCTCATGAGGATCAACCAGCTTATACAATGTGTGACAAGTAGCAGATGTGTCCCCTTCCTCCACCCACCACCCCCTTCTACCTGCAAGGTGTCACACAGGCCTTCTGACCAGGACACTTCTTCTGGTCACTAACCTTCCCCCCCCTCCCCATATCCCCTTCTTGCTCAATTCCACCTCTCTATACTCCTGGATGGTTACTCTCAGATCTGGGTGTCCCCTCCCCATGTCTCCCTCTGGTTTTGCTCTCCTCCCATTAGGGGCTGGGTTGATGGGTAAGGAGGAAGGAACGCTTAGGCCAGGGCTGACTGTGCCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCTTCTATTCCAATGCCGTGGTCTCCTATGATGGCAGCATCTTCTGGCTGCCGCCTGCCATCTACAAGAGCGCATGCAAGATTGAAGTAAAGCACTTCCCATTTGACCAGCAGAACTGCACCATGAAGTTCCGTTCGTGGACCTACGACCGCACAGAGATCGACTTGGTGCTGAAGAGTGAGGTGGCCAGCCTGGACGACTTCACACCTAGTGGTGAGTGGGACATCGTGGCGCTGCCGGGCCGGCGCAACGAGAACCCCGACGACTCTACGTACGTGGACATCACGTATGACTTCATCATTCGCCGCAAGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGTGTGCTCATCACCTCGCTAGCCATCCTTGTCTTCTACCTGCCATCCGACTGTGGCGAGAAGATGACGTTGTGCATCTCAGTGCTGCTGGCGCTCACGGTCTTCCTGCTGCTCATCTCCAAGATCCTGCCTCCCACCTCCCTCGACGTGCCGCTCGTCGGCAAGTACCTCATGTTCACCATGGTGCTTGTCACCTTCTCCATCGTCACCAGCGTGTGCGTGCTCAACGTGCACCACCGCTCGCCCACCACGCACACCATGGCGCCCTGGGTGAAGGTCGTCTTCCTGGAGAAGCTGCCCGCGCTGCTCTTCATGCAGCAGCCACGCCATCATTGCGCCCGTCAGCGCCTGCGCCTGCGGCGACGCCAGCGTGAGCGCGAGGGCGCTGGAGCCCTCTTCTTCCGCGAAGCCCCAGGGGCCGACTCCTGCACGTGCTTCGTCAACCGCGCGTCGGTGCAGGGGTTGGCCGGGGCCTTCGGGGCTGAGCCTGCACCAGTGGCGGGCCCCGGGCGCTCAGGGGAGCCGTGTGGCTGTGGCCTCCGGGAGGCGGTGGACGGCGTGCGCTTCATCGCAGACCACATGCGGAGCGAGGACGATGACCAGAGCGTGAGTGCCGCAGGCTGGGACCCCGGGCGTGAGATATGGGGTCTGCCAGGGCCCGGGTATCTGGAAAGCAGCGGCGTTCTATAGACATGCAGAGGTAGTAGGAGTGTAGGGGAGGAAAATGTGAGTCAGGCCTGTGTTGCGGGCCTGGGTGCTGGCTAGGGCCCTTCTGGGTTGGCTTCCGGGAGATTGTGCGGCCTAAATTGGAGTCGGTGGAAGATGACCTTGCTGCTTCCTGAGGGCTAGCACCCAGGGCAAAATGCCTGAGCTGGGGCATCGTTATATGGGCAGGGAGGCCTGAAACACGAGGAGGCCCTTTAGGGTTGGCAGCCAGCCTGTGGCCGTGACCCCGAGAGTCCCTCCCCACCCCCCGCTGCTTGCATGCCCACATCCAAGTTGTTAACCTGCAGCTCTTAGCACAAGTGATGAGTCTTTTGTGCACCACACAGGCAGGAGGGGGCAACATTGAGGACAGTAGGAGTGGTGTGTATTGGGGGAGGGGTGGCGTTGGTGGCGGGGTTAGAGATTCCAGGAGCCTGCTTGTGGTGGAGAGCATGGAGTCCTAAATCAATATCCCTGCTCTTCTGAGTCCCAGGGGATGGCCTCCTGAAATATTTATGGAGATGGGGGTGGGTGAAGGGGAAGGCTCCTTGGCCCCTTCCTCAGGCTTTCTGCATACCCGGCTTTTGGCTTCTTCTACAGGGTTCCCTGAGAGCTTCTTTGAGACTGAGCCAAGAGTTGGGGGGAGATATGATAGGCTGACATCCCCCCGACCCCGCACTTTGGGTAGGGGCCGGCCCCACCCTGTGGTCAGTCTCTGGCTACCTGGCTGGTTCCAGGCTGAGGCTCAGCTGTTGCCATGGTGACTGGCCAGGTTTCCTCTAGGACAGCTGCCATTCTGGCTGGGGGATGAAGAAGGGCACTGCGGTGTGGGCCTCAGAGATCTGTTTCCCTGGACAGCAGGAGATGGGTTGGAGCTGAAGCTTGGACCAGGGAGCATACACTAGAGGAGATGGGGTGGGAACCTTAGAGCCAGCTGAGGCCAAGTGGGAGATGCTGGGATTCAGGGACTCAGCAGGCTGTGGTTACCGCCTCCACCTCTCCTGCTGCAGTCATGCATGTATTGTGCATTTACCGAGCTAGGTGCTGAGGATGTGGTGACCTACTTGGATGCTTCACAGGCACCTCAAACTCAACATGCTCAAAACTGAGTATTTGGTCTACATCCTAACCACCAACTTGCTCCTCCACCAGTTTTTAGTACACGGCATCACCATTCACTTAATGGCTCAGACTGAAAACCCAGAGGGATCCTTGATCCTGTCCTTTCTCACCTCCCTCTCTGTCCAATTCATCAGAAGTCTTGTCCTGTCACAACCCCAAAGTCATTCTCAGCTTCATCTGTTTTTCAGCATCTCCATGCTAACACCCTGGTTCTAGGACATCATCAGCTCTTGCCTGGCCTAGGGCAGAAGAGTCTCCTAATAGTCTCCCTGATTCAGCTCCTGTGCTCCTGCATCCAAATAGATGTCTCCCTCACGGCTCATGCCTTTCCCTCCTTGCCCAGGTCA
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Task1_train_1580
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The gene ADAR (adenosine deaminase RNA specific) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Symmetrical dyschromatosis of extremities
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CATCCTTAGTCTATTTTTAGAACTTGCATTTTCTTACTTTGGTCAATTTTTGGTCAAAAGTACAGAGAGCATAGAATAAAAGCAAAGATGTGAATGTCTCTACCAGACAGAGGATGACCTAGTCAGCAGTTTGGAGGGAAATCATCTGAGGGTGCTGGCTCAGCACGTTCCCAGATGAAGGTCTGTCATCTAAAGGAGAGAGGCAGGCTCAGCTCCTGAAGGTCGCAGAGCCTCAGTAGTCCTCCTGAGTGTGTCTAGCTGACTGTTATCGAGGGACACGTAAAAGCAGCATCACAAAACTGGACTGCAGCCATCACCACGGCACCAAGTCTATGCTTGGGCTCTTCCCTGCTCTGCTCTTGGAGTCATGACCAACACTCTAAAAGCCAACAAAGTCCCTTCAACATGAGTAAAGGAAACAGTTTCAAGCACTGACAGTTTTTACGAGTGACTATTCAAAGAATGCACAGGAGCCAGAGAGCCAGACTCCACAGAGAGGCCAAAGGCTCTGAACACACGAGTCAATGTTCATGGAGGTATAGACAAAGGATTCTACCTCACAGAGTTTGAAGACAACCTGCCCTTTCACCCACAACTACTGCTTTCTATGTCAACCCTATAAAGATCAGGTCTGCGCCCTGCCCACGAGCCTACTTCTGAAGCCATCTGGAAAAATGAAAGCACTTGGATAAATGGAAAAGTATGCCTGAATTTTAAATCTGCTCAATTACAGGTTATCTGTAGCAGTTAAGAATCAACATCTATGGCATTCTTTAAAACACTCCTAATTTACATGTGACTTAGTCAACTTCCCTTGGTGTCACTGTCATGAGAGATATTACACCGGGTGGAACAGTGACGTTAAGCCAACAGGATTTTTTGCCCTTATTCTTGCTAAGTCATGATTATCTGAGCAGAGATGATTTTATACCCTCTAGGATTTGTCCCGTTGGCTAGGGTGTACGCCCAGCATTGGCGGGGAAAATATTCCTAGGAATGCTTTAGGAGAAGAGGCAGCTGGAAGCTTGGCAATATTCCAAGGCATGCCCGTGCTCCCTGGGAAGTGGTCTGTGTCATCCTGCCGGGTGAAACCTCTGCTATTGCTTGAGCAGCTCCCTTAACCCAGTCTGGCTGGTTCTAGACTTCCCAGCTGCCGGAGAAAGTGATACACTTCCAGGGAAGCAGCTTTCCTTGCCTTGCCCGCCCTGCAGCTGGCTAAAGTGCAGGATGGGAGGATGGCTGGGCATTATCTGCAGGCTCCAATCACACTTCCGTGGCACTGGGAACTGCAGTTTTCAACTCCTACCCTTACAAATGTTTCACCAAATCCTTTATGTTCACCTCTTTGCCCTCTGAGGGGGAAAAGGAGACATTCAGATCACAAGGAAAGAATCTCAGAAGGGAAAGAGGGGAAGTAGAGGGGTCTGCGTAATCCACAAATGAAATTATCAGTCCCTGACATGATCCAGAGTTGACTGAAACCTAATCAAGACCGCAAGAGGTCAGTGTAGCAAACACAAAGGGAAAGGAAATGGAAACAAATCAAAACAAAACTTTTAAGAGGAAATGGACCGCAGGTGCTCAGTGACTATGTATGCTTTGGGTAGAAAGAAAAGATAACTTCTTAGGTTTCTGCCTCTTCACTTGGGGGAAAAAAGGGGGGCCTGGCCAGACCTTGCCTAGCAATCCCAAAGAAAGCAGGATAAATGGGAACCCAAAGTTTTCAGTATCACCAATTATGGCTTAAAAAGAAAAAAAAAGGAGAAAAAAAAATCCCCTGACCATGTGATGAGGAATGCTACGACCTACCTCTCTCACACCCTAGTATGACACACCCTAATCCATCTGTCACTGGAGCATACTATACTGGGCAGAGATAAAAGTTCTTTTCCTCCTGGGGTTTGCTAATCCAGTTCCCATAGCCCATATCCTTCAGGCCTTTTTTGAAGTAGTTCTTGGCCGTCTCGTAGTCACGGGCAGCTTTCTTGGCCTCACCATAGGAGAGTCTCAGTAGATCCCTGCGGTAACGGAAGGAGCAGAGCTTCTTAAATAGAAGAAAAATGTTCTTTTTGGAGACCCGGGACAATTCATTCCGTGGCCTAGAGAAACAAAAGCACTCATTATTCACCTGGGACCTGTAAGATAAGGAGCTCACAGTGGAGACACCGTGGGAGGGGAGGCGGCTCTCAAGCCCTGAGACTGCAGAGGTATGATGCACCCTTGCAAGTCAGGGCAGAGGCTTGGTCCTCACTGCGCTCTCCTGTCTCCTTACCCATCCACAGTGCCTCTGGTACCGTCCAGGATCTCCAGGTCATAGCCATCAGCCAGACACCAGTTGACGCTTGTCTCCTTAGTCTTCCCGGATTGCCTTTTGGAATCATATATGCTGACTCTGCCAACCTAGGAATCCCAGAAGCAACGGGAGAAAGATGGAAACCTTTCAGGAATAAGATTCTGAAGCAGGGACTCAAGACTCATAGGAGAGAGGAAGTGTGGGGTCATGATCTTTCCCCTGTATTTAGGGTTCTGTTTGGCTAAGACTGAGCACCCTCTAGACATACTAACTCCACCTCGATTCAGATTAATTCCAGACTAAGAGAAGAAAAGCCCTTGGCATCCAAAAGGAAGAAAGTTTAAGTTCTTGGGAGACCAACCAATGTTGGTGGTGGGCCACTGTGGGCAATGTTCCCTTGTGGGCTACCACTGTGGGCAATGTTCCCCTTGCCCACAGTGTACATTTTTCCTCTGTTTACATGACTGCTTGAAAAGGAGGAAAATGTCAGGGAAAATAGAAGGGGGTTATAGCACCTTGGGGTGGTTGACAATAAAGGGATGTCGTAGTCCATCCTCAAATGCACTCCCATCTCTTGTCACACGACAGCAAATAGCACGGGTCAGATGCCCTTGGCTGAAAAGGTAACCTGAGTACAAAAAAGAGAAACATATATACCTGTGTTTGCACCAAATGCTGTTAAGAGGCAGAAGCATGTGGGGATTTTGGAGGTACAAGATATAGTTGTCAAGAAAGAGAAACAGCTGCCTTGTTAGGAAGCACCTTCTGACTGGGGCTACCAGGATCTTCCTACCACAGCAGACTGGACACTCAATCAATTACTGAGGAGTGAATCATGCTCACTTTGATAAGGGAGACAAAACACCTGGCAATAAAGCATGCAGTTTGGGATCTGGGCACAAGAAGGACAGACCAGTTCCAGATCCCAAGGCAGGCCCCTTACCCAATGTGACAGATTTGAGATAAATGGGCTGCAGGAAGTGGGTCAACAGTGCCCCTTGCAGGCCCAGCACGTTCCAGCGTAGGATTTTGTCACTACAGGACATGGTACGGAGTCTCTCCCCGAGCCGAATGCCATCCCACGTAGGCACAATGTCACTGGATTCCACAGGGATTGTGCCTTCTCCTGTGTGAGAGACTTGGGTCAGACCCACAGGCGCCAATGGACCAAACCACTCCCTGGCGTGGTTTCTATCCTCCTTAAGCTTGGGCCACAGGCTACATTCATTCATTCTTCACATATTTCACAGCCCCTGCTATGCGCCAGGCACTATGCTTGGTGCTGGGAAAGAACGGTGAGCAAAACCAAGTAAGATCTTTGTGCTCTTAAAACATCTATGGTGGTGAGGAGATTGAAAGGGAAGAGAATAGACACTAAACCAGTAGCCAGTACATACGGAAGAATTCCAGATGCTGACAGTGCTCTGAAGGCTCTGAGGCAGCTATGACGGAGGACCACAGGGGACACCTCCTGGGACAGCAGCAGCAGGGGAGCCCAGACATGGAGGAGGACAGCTGGAGTAAGTGTTTCAGGCACACAGGACAAAAGCAAAGGCCCCAAGGCAGCCAGCGGATTGGCTGTTCAGGCGCCTGACAGAGAGCCAGTGTGGACAGAGCATATGCGAGGGATGGGGAAAGTGGCATGAGAGGAGGCCGGGTGATCACAGCAGGTTTTGCTTGTATATGCAGTGCAGTGGGAAACCACTATCGGGTTTAAAAAAAAACAAAAAAAAATGCTTTACTGAGATATAGTTCATATGCCATACAGTTCACCCATTTAAAGCATACAATTCAGTCATTTTT
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CATCCTTAGTCTATTTTTAGAACTTGCATTTTCTTACTTTGGTCAATTTTTGGTCAAAAGTACAGAGAGCATAGAATAAAAGCAAAGATGTGAATGTCTCTACCAGACAGAGGATGACCTAGTCAGCAGTTTGGAGGGAAATCATCTGAGGGTGCTGGCTCAGCACGTTCCCAGATGAAGGTCTGTCATCTAAAGGAGAGAGGCAGGCTCAGCTCCTGAAGGTCGCAGAGCCTCAGTAGTCCTCCTGAGTGTGTCTAGCTGACTGTTATCGAGGGACACGTAAAAGCAGCATCACAAAACTGGACTGCAGCCATCACCACGGCACCAAGTCTATGCTTGGGCTCTTCCCTGCTCTGCTCTTGGAGTCATGACCAACACTCTAAAAGCCAACAAAGTCCCTTCAACATGAGTAAAGGAAACAGTTTCAAGCACTGACAGTTTTTACGAGTGACTATTCAAAGAATGCACAGGAGCCAGAGAGCCAGACTCCACAGAGAGGCCAAAGGCTCTGAACACACGAGTCAATGTTCATGGAGGTATAGACAAAGGATTCTACCTCACAGAGTTTGAAGACAACCTGCCCTTTCACCCACAACTACTGCTTTCTATGTCAACCCTATAAAGATCAGGTCTGCGCCCTGCCCACGAGCCTACTTCTGAAGCCATCTGGAAAAATGAAAGCACTTGGATAAATGGAAAAGTATGCCTGAATTTTAAATCTGCTCAATTACAGGTTATCTGTAGCAGTTAAGAATCAACATCTATGGCATTCTTTAAAACACTCCTAATTTACATGTGACTTAGTCAACTTCCCTTGGTGTCACTGTCATGAGAGATATTACACCGGGTGGAACAGTGACGTTAAGCCAACAGGATTTTTTGCCCTTATTCTTGCTAAGTCATGATTATCTGAGCAGAGATGATTTTATACCCTCTAGGATTTGTCCCGTTGGCTAGGGTGTACGCCCAGCATTGGCGGGGAAAATATTCCTAGGAATGCTTTAGGAGAAGAGGCAGCTGGAAGCTTGGCAATATTCCAAGGCATGCCCGTGCTCCCTGGGAAGTGGTCTGTGTCATCCTGCCGGGTGAAACCTCTGCTATTGCTTGAGCAGCTCCCTTAACCCAGTCTGGCTGGTTCTAGACTTCCCAGCTGCCGGAGAAAGTGATACACTTCCAGGGAAGCAGCTTTCCTTGCCTTGCCCGCCCTGCAGCTGGCTAAAGTGCAGGATGGGAGGATGGCTGGGCATTATCTGCAGGCTCCAATCACACTTCCGTGGCACTGGGAACTGCAGTTTTCAACTCCTACCCTTACAAATGTTTCACCAAATCCTTTATGTTCACCTCTTTGCCCTCTGAGGGGGAAAAGGAGACATTCAGATCACAAGGAAAGAATCTCAGAAGGGAAAGAGGGGAAGTAGAGGGGTCTGCGTAATCCACAAATGAAATTATCAGTCCCTGACATGATCCAGAGTTGACTGAAACCTAATCAAGACCGCAAGAGGTCAGTGTAGCAAACACAAAGGGAAAGGAAATGGAAACAAATCAAAACAAAACTTTTAAGAGGAAATGGACCGCAGGTGCTCAGTGACTATGTATGCTTTGGGTAGAAAGAAAAGATAACTTCTTAGGTTTCTGCCTCTTCACTTGGGGGAAAAAAGGGGGGCCTGGCCAGACCTTGCCTAGCAATCCCAAAGAAAGCAGGATAAATGGGAACCCAAAGTTTTCAGTATCACCAATTATGGCTTAAAAAGAAAAAAAAAGGAGAAAAAAAAATCCCCTGACCATGTGATGAGGAATGCTACGACCTACCTCTCTCACACCCTAGTATGACACACCCTAATCCATCTGTCACTGGAGCATACTATACTGGGCAGAGATAAAAGTTCTTTTCCTCCTGGGGTTTGCTAATCCAGTTCCCATAGCCCATATCCTTCAGGCCTTTTTTGAAGTAGTTCTTGGCCGTCTCGTAGTCACGGGCAGCTTTCTTGGCCTCACCATAGGAGAGTCTCAGTAGATCCCTGCGGTAACGGAAGGAGCAGAGCTTCTTAGATAGAAGAAAAATGTTCTTTTTGGAGACCCGGGACAATTCATTCCGTGGCCTAGAGAAACAAAAGCACTCATTATTCACCTGGGACCTGTAAGATAAGGAGCTCACAGTGGAGACACCGTGGGAGGGGAGGCGGCTCTCAAGCCCTGAGACTGCAGAGGTATGATGCACCCTTGCAAGTCAGGGCAGAGGCTTGGTCCTCACTGCGCTCTCCTGTCTCCTTACCCATCCACAGTGCCTCTGGTACCGTCCAGGATCTCCAGGTCATAGCCATCAGCCAGACACCAGTTGACGCTTGTCTCCTTAGTCTTCCCGGATTGCCTTTTGGAATCATATATGCTGACTCTGCCAACCTAGGAATCCCAGAAGCAACGGGAGAAAGATGGAAACCTTTCAGGAATAAGATTCTGAAGCAGGGACTCAAGACTCATAGGAGAGAGGAAGTGTGGGGTCATGATCTTTCCCCTGTATTTAGGGTTCTGTTTGGCTAAGACTGAGCACCCTCTAGACATACTAACTCCACCTCGATTCAGATTAATTCCAGACTAAGAGAAGAAAAGCCCTTGGCATCCAAAAGGAAGAAAGTTTAAGTTCTTGGGAGACCAACCAATGTTGGTGGTGGGCCACTGTGGGCAATGTTCCCTTGTGGGCTACCACTGTGGGCAATGTTCCCCTTGCCCACAGTGTACATTTTTCCTCTGTTTACATGACTGCTTGAAAAGGAGGAAAATGTCAGGGAAAATAGAAGGGGGTTATAGCACCTTGGGGTGGTTGACAATAAAGGGATGTCGTAGTCCATCCTCAAATGCACTCCCATCTCTTGTCACACGACAGCAAATAGCACGGGTCAGATGCCCTTGGCTGAAAAGGTAACCTGAGTACAAAAAAGAGAAACATATATACCTGTGTTTGCACCAAATGCTGTTAAGAGGCAGAAGCATGTGGGGATTTTGGAGGTACAAGATATAGTTGTCAAGAAAGAGAAACAGCTGCCTTGTTAGGAAGCACCTTCTGACTGGGGCTACCAGGATCTTCCTACCACAGCAGACTGGACACTCAATCAATTACTGAGGAGTGAATCATGCTCACTTTGATAAGGGAGACAAAACACCTGGCAATAAAGCATGCAGTTTGGGATCTGGGCACAAGAAGGACAGACCAGTTCCAGATCCCAAGGCAGGCCCCTTACCCAATGTGACAGATTTGAGATAAATGGGCTGCAGGAAGTGGGTCAACAGTGCCCCTTGCAGGCCCAGCACGTTCCAGCGTAGGATTTTGTCACTACAGGACATGGTACGGAGTCTCTCCCCGAGCCGAATGCCATCCCACGTAGGCACAATGTCACTGGATTCCACAGGGATTGTGCCTTCTCCTGTGTGAGAGACTTGGGTCAGACCCACAGGCGCCAATGGACCAAACCACTCCCTGGCGTGGTTTCTATCCTCCTTAAGCTTGGGCCACAGGCTACATTCATTCATTCTTCACATATTTCACAGCCCCTGCTATGCGCCAGGCACTATGCTTGGTGCTGGGAAAGAACGGTGAGCAAAACCAAGTAAGATCTTTGTGCTCTTAAAACATCTATGGTGGTGAGGAGATTGAAAGGGAAGAGAATAGACACTAAACCAGTAGCCAGTACATACGGAAGAATTCCAGATGCTGACAGTGCTCTGAAGGCTCTGAGGCAGCTATGACGGAGGACCACAGGGGACACCTCCTGGGACAGCAGCAGCAGGGGAGCCCAGACATGGAGGAGGACAGCTGGAGTAAGTGTTTCAGGCACACAGGACAAAAGCAAAGGCCCCAAGGCAGCCAGCGGATTGGCTGTTCAGGCGCCTGACAGAGAGCCAGTGTGGACAGAGCATATGCGAGGGATGGGGAAAGTGGCATGAGAGGAGGCCGGGTGATCACAGCAGGTTTTGCTTGTATATGCAGTGCAGTGGGAAACCACTATCGGGTTTAAAAAAAAACAAAAAAAAATGCTTTACTGAGATATAGTTCATATGCCATACAGTTCACCCATTTAAAGCATACAATTCAGTCATTTTT
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Task1_train_1581
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An alteration has been detected in ADAR (adenosine deaminase RNA specific) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Symmetrical dyschromatosis of extremities
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GTAGCCAGTACATACGGAAGAATTCCAGATGCTGACAGTGCTCTGAAGGCTCTGAGGCAGCTATGACGGAGGACCACAGGGGACACCTCCTGGGACAGCAGCAGCAGGGGAGCCCAGACATGGAGGAGGACAGCTGGAGTAAGTGTTTCAGGCACACAGGACAAAAGCAAAGGCCCCAAGGCAGCCAGCGGATTGGCTGTTCAGGCGCCTGACAGAGAGCCAGTGTGGACAGAGCATATGCGAGGGATGGGGAAAGTGGCATGAGAGGAGGCCGGGTGATCACAGCAGGTTTTGCTTGTATATGCAGTGCAGTGGGAAACCACTATCGGGTTTAAAAAAAAACAAAAAAAAATGCTTTACTGAGATATAGTTCATATGCCATACAGTTCACCCATTTAAAGCATACAATTCAGTCATTTTTAGTATATTCACAGAGTTCTGCAACTGTCACCACAGTCAATTTTAGAACATTTCATCGCTCCAAAAAGAAACCTTCTACCCATTGGCGCAGTCACTCCTCATCTCTCCAACTCTCCCACTCCTGGCCCTGGCAACCACTCATCTACTTTCTGTCTCTATGGATTTGTCTATTCTGGACATTTCATATAAATGGAATCATACAATATGTGATCTTTTGTGACTGGCTTTTTTCATTTGGCATCAAGTTTTCAAGTGCATCCATATTGTAAGCATGTATCAGCACTTCACTTCTTTTTATGGCCAAAATAATATTCAATTTATGGATATATTTGATGTTTTATTTATGAATCCATCAGCTGATGGACGTCTGGGTTGTTTCCACTTTTTTGGCTCTTGTGAGTAATGCTGCCATGAACATTCACATATTAGTTTCCGTGTGGACACAGATCTCCATCTCTCTGCAGCATATACCTAGGAGTGGAGCACCGGCTCCATGGTAACTGTGTCTATACTTTAGGGTATTTAGCAAGGTTTCAGGACCACCATGATGACTGCTGACGTGGCCTGAACGCAATGGAGTGGATGCGAAGAGACAGTAAGGAGACAGGAGAGGATAGGAGAGAAGGAGCCAGTGGACAAGGCAGAGTCAACTGCCAGCTAGACAGGAGGGGACCCCAGCATTTGGCATCCTCATCTGTCAACTCCTCAGGGCTTGGTTGTGCCGCACTCTTCATTTCCTCCCCGCTTTCTTGAGGTAATCCTATGCATTCTCATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGTTCTCCACCTTGGTGCGGAGCTTTCCTTGTTTGGGATTCTCGAAGACAGGGTAGTGGCGGGATTCTGTGCTTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGAGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGTCAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCCTGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGAGAGCCGCATCTGCTGCTTCCTGCTTGCCTTGCTTCTTGCTGTGTGCGCAGACGGCTGGGAACCAGCGACCCCCAACTTTTGCTTGGTAAACGAACCTTTGGGATGAGAAACAGAGAATGAAGACAAGTGCCAGACCCTGACATTGTTCCAAGGAAGGGTTAGTTTTGCTGAAGATGTGGCCAGTCTTGCAAACATATGGACCCGTCAAACAGAAGCTGTTTCTAAGGCAGCATTTCCTAGATTTTGGTCATTCATGAATCACCACATGATTTGTGCCACATCCAGGTATTACTTGGACTATTAATTAATATTTTTCTCTAAATTGACTTCTTAGAGCCAGCCATTGTGGCTCACACCTGTAATCCCAGCAACTTGAGGAGCTAAGGTGGGAGATCACTTGA
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GTAGCCAGTACATACGGAAGAATTCCAGATGCTGACAGTGCTCTGAAGGCTCTGAGGCAGCTATGACGGAGGACCACAGGGGACACCTCCTGGGACAGCAGCAGCAGGGGAGCCCAGACATGGAGGAGGACAGCTGGAGTAAGTGTTTCAGGCACACAGGACAAAAGCAAAGGCCCCAAGGCAGCCAGCGGATTGGCTGTTCAGGCGCCTGACAGAGAGCCAGTGTGGACAGAGCATATGCGAGGGATGGGGAAAGTGGCATGAGAGGAGGCCGGGTGATCACAGCAGGTTTTGCTTGTATATGCAGTGCAGTGGGAAACCACTATCGGGTTTAAAAAAAAACAAAAAAAAATGCTTTACTGAGATATAGTTCATATGCCATACAGTTCACCCATTTAAAGCATACAATTCAGTCATTTTTAGTATATTCACAGAGTTCTGCAACTGTCACCACAGTCAATTTTAGAACATTTCATCGCTCCAAAAAGAAACCTTCTACCCATTGGCGCAGTCACTCCTCATCTCTCCAACTCTCCCACTCCTGGCCCTGGCAACCACTCATCTACTTTCTGTCTCTATGGATTTGTCTATTCTGGACATTTCATATAAATGGAATCATACAATATGTGATCTTTTGTGACTGGCTTTTTTCATTTGGCATCAAGTTTTCAAGTGCATCCATATTGTAAGCATGTATCAGCACTTCACTTCTTTTTATGGCCAAAATAATATTCAATTTATGGATATATTTGATGTTTTATTTATGAATCCATCAGCTGATGGACGTCTGGGTTGTTTCCACTTTTTTGGCTCTTGTGAGTAATGCTGCCATGAACATTCACATATTAGTTTCCGTGTGGACACAGATCTCCATCTCTCTGCAGCATATACCTAGGAGTGGAGCACCGGCTCCATGGTAACTGTGTCTATACTTTAGGGTATTTAGCAAGGTTTCAGGACCACCATGATGACTGCTGACGTGGCCTGAACGCAATGGAGTGGATGCGAAGAGACAGTAAGGAGACAGGAGAGGATAGGAGAGAAGGAGCCAGTGGACAAGGCAGAGTCAACTGCCAGCTAGACAGGAGGGGACCCCAGCATTTGGCATCCTCATCTGTCAACTCCTCAGGGCTTGGTTGTGCCGCACTCTTCATTTCCTCCCCGCTTTCTTGAGGTAATCCTATGCATTCTCATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGTTCTCCACCTTGGTGCGGAGCTTTCCTTGTTTGGGATTCTCGAAGACAGGGTAGTGGCGGGATTCTGTGCTTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGGGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGTCAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCCTGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGAGAGCCGCATCTGCTGCTTCCTGCTTGCCTTGCTTCTTGCTGTGTGCGCAGACGGCTGGGAACCAGCGACCCCCAACTTTTGCTTGGTAAACGAACCTTTGGGATGAGAAACAGAGAATGAAGACAAGTGCCAGACCCTGACATTGTTCCAAGGAAGGGTTAGTTTTGCTGAAGATGTGGCCAGTCTTGCAAACATATGGACCCGTCAAACAGAAGCTGTTTCTAAGGCAGCATTTCCTAGATTTTGGTCATTCATGAATCACCACATGATTTGTGCCACATCCAGGTATTACTTGGACTATTAATTAATATTTTTCTCTAAATTGACTTCTTAGAGCCAGCCATTGTGGCTCACACCTGTAATCCCAGCAACTTGAGGAGCTAAGGTGGGAGATCACTTGA
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Task1_train_1582
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This variant affects the gene KCNN3 (potassium calcium-activated channel subfamily N member 3) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Zimmermann-laband syndrome 3
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TGATAACAGCCTTCAATCACTGCCATCGTGATGTGACAAATCATGGCTTTTTTTGGTGCAGCTGATAGCTCAGGGCCATGATGTATCAAGTACAAACACTTGAATGTCAACAACATAAGAATATTTGCCCGTACCAGTTCCTTTTAATGTCTGTTAAGGCTCTTTACAGAATCCAATAAATGTAATCAAAGACCAAACAATCAAACACCATAAATAATTCTGCTGAGAAACTGGAGAGGCCTTGGCCGCTGCACACTCTCCCACTGCCTTCCCCAAGAGCTCGCTCGCAGCTCCCTCTGTCATTCTCTCTCTCTCTCTTTTTGTTCTTCCTTCCTGCCGTTGTCTCTATTTCTAACACATTTTTGCTGCTGTGCAACATTAATCACTGAATATTTTCTCTAGCTTTCAAAAACCCAAATCAAAATTTGGTTGCTCATGGGTCCCTTAACCTACTTCAGTCCTAAATGAAAAAGACTATGGAGGCCGAGACACGGGCACAGGGTTTTAATTCTGTCTCGTCTCAGAAAGAGGACAGTCTTGCAGGAAATCATCTTACTGACCTTCCTTCAGGCTGTAGTTCTAAAGAATTTTCCATAAAAGCTGTCCTTGAATAAACAGCTCCTGCCTTGCCCATTTGGCCTGCTGTTATTCTGGAAGGCTTGTATCTGTCTATTCTAAATGGGTCTTTTCATCTCAGACAATTCAGTGGGGTGTCCAACTTTCAGCAGCTAAATGGTCTACCCATTCCTGCATATTTTCAGATTTTCATCTTCCATAACCACTTCCATAATGGTTCAAGTGAGAAACATTACCCGGAAAACCCAAAAGGGAAAAATTGGATGATGATGTTTTGATGAACAATTTTATTTAGGGATGTGGGCTCTACTAGAATGATTCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGACTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCATGCTCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCGCTCCCAGCATAGAATGATTCTTTAAATGATTTTTTTTAAAGGATTAGACTTAGGTACATTTTCAATATACTTTTATAGTTTTAGGTATATTTTCAATATAGTTTTGCCCTTCCTAATGAGAATCCTGAAAATATTTGAGCATAAACAAAAAACATTGCCTCATACCGTGATTTATTTGGTATCATCAGGCAAAGGGGCAGGTTATACCATTGTAGGCTATTAATTAAATTACCAGGAAAATTATTTGGCTGCCTGAACCATGCACAGTGATCGAACAGAAGACAGGAACCCGGCGTATGAAGGTGCTGTTTCCATTTTGTGTCTGGGGTTCCCTCAAACACACCCTTTAAAAGCCTGGTGCAAACCCATACGACATGACCATTTGCTTCCTTCCTTCCTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCTCTCTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTCTGTATTTTTAGTAGAGATGGGGTTTCAACGTATTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCGACCCTCCTCAGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGTTGGACCATTTGCTTTCTGATTGGCTTCCACTGTGGCCTTAAGTCCCCCATAAGACATGGCTGTGTGGCATCTTACCCGCTTGGTGAGCTGAGTGTCCATCATGAAGTTATGAACGTGCTTCTCCGCTTTGGTGAGTTCCAGCTTTCGGGCCACCACGGCCACCACAAGGGCAGTGCAGCCTGCACCCTGCGGGGGGACATCAAGAGGACCAGAGGGGAAAGAACATATCATTAAGAGGCAAGATGAGAGACTCAACACGCCTGGCGGCCACGGGGGTAATTTCCTGGGAGTGGAGTGGGAACTTGAGCTCTCTGGCTGGTCACGACCAAGCCACAAAAATCTGTTGAAATCTGTCAGGACTCTGATGTCCTGACCCACAGAGGGGTCTGCAGTGCCTCTTGGGTTGTGCTCTGCAGCTGACCTCTGGGAGGCTGAGCTAGCCAGTTTCAATGGAGAAGGATGCTGGGTGGCGCCGAGGCTTTGGGGGGTTTAACCAACAACTAAGCACCTGGTCAGCTGCCAAGCTGTGCAGCGGAAGACAGAGGGGCCAGCACACACGGGCCCTCTCTCCCTCAGGCAGGTCTCCATCCCACTGCCAGCTCTAGACCAGCAGGCCTGGGAGGAAAGAAGGTAGGCCATCAGCTGGGGTGCAGATGGAACACCTGCCAGTGGCTGAGAGTGTTCCTGAAAATAATCGAATGAAGAGGCAATACCTTTCCCCAGGGCTTGTTTCACAGAGGGCACCCAGGTTGGCACGAACACGTGCACTCAGTGACTGTGCCTGCTCTACACTTGGGCTTTTTCACCTCAAGGTTTACGCTATGACTCAGCACAAGGAATCGGTTCCTTCCTGCCTTCACCAGGAGGCTCATGAATTCACCGTCATGCAGAGATTTTAAAGACAACACCACTTCTGCTGGATCAAAACCGGGATTTTAAGTGAGCCCGCAGCAGACCCTTGGGATTTTCTGGAACAGCGATCCTAGTCTGCTCGGTAGGTCCGTGCCAGGGGAGCCCGGGGGAGGGTGGGCAAGGAAGCAGGCTCTGCTGAGCCCCCAGAATGGTGGGACTCACTTTCTCTCTCCTAATCCTCTGGGTGCATACTTGACTGTCTGGGAAATAAGCAGGGAATTCCCTGCACATTCCAACATTCTCCCAATGCATTTTAAAATCCTCTTCGCTAGGCTTCTTGGTTGGCTTGTGAGCATAGGGGGAATTCAGAGACTCACTACTCCCCTGGCTCTTCGGCAGGCAGCGGGAGTCAGCTCCATCCTTCTGCAAGCGGACTCCCGTCAGAGACCATCGCCCTCTGCCTGCATGCTGTGCCCTGCGCCGCCCTGACCACCACTCATGGAAAGAGATGATGAACTTATTAAAGCCAACAACCGAATCCTGTATGTCAAACAGTAATTCTAGTTGCCACAGAACCCAGTCTAGCAGTTGAGGTCCCAGAATGGAAGGAATCTGTCAGTAACATTTTTGGCTCATCAGGTCTTACAAAATGTGTGAGAAGCAGAAAAGAATGTTTTTCAAAGGTACTATAATCTATAACCGACTTGGAAGGAATGCATATGGGTGGATCCATTCCCTACTCTCTCTTTTAGAAGCTATTTCTCTCTTTATCCCACAGGCTGACAAAGGCTAGCCTGTGTGAAGTTTCAATGTGGTTGAAGTTCACAATGCTTTCTCCTCGTTTCCCACAAGGGTCCCCATTAAAACAATCTAGTGTTTCTCAGTACATTTGTTGGCCTTGTCACAAAGTGAAAAGAACCAAGTCTGTGTGAACTTTCCTTTTCTGACCTCATTTTCCTCTTTTGTTCGAGGACGGCTGTGTTTTTTCAGCTTCTGTGACTTACAGGAGACTCTGTGCCCAATTTTCAAAGGATCTGGGCAGTTGCACAGCCTGGTCTGTAGCTGTAATCAATTTAGCCATGCCTCCAAAAGCAAAAAATAGCTTAAAAGAAGCCATCCTAGAGGGAAGATGTGTGCTCCCTTCCCCTCGACCGGACGGAGTATCATCCCTCTCCTTTATATGGAGTTCCAAAAGTACTTTGGGCTGAAAGCCCAAAAAGAGGGCTATATCATAGCGTTAAAAATGGAACATCAGATGGAGAGGGTTCTCCCCAGGTTCCATTCTCCCTCCTCTCGCTAGGCCCAGGCAAAACTCTACTTAAATCATCCCTGAAAGCTGGGGTCCAATAGGCCTGAAGAGGGAGCT
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TGATAACAGCCTTCAATCACTGCCATCGTGATGTGACAAATCATGGCTTTTTTTGGTGCAGCTGATAGCTCAGGGCCATGATGTATCAAGTACAAACACTTGAATGTCAACAACATAAGAATATTTGCCCGTACCAGTTCCTTTTAATGTCTGTTAAGGCTCTTTACAGAATCCAATAAATGTAATCAAAGACCAAACAATCAAACACCATAAATAATTCTGCTGAGAAACTGGAGAGGCCTTGGCCGCTGCACACTCTCCCACTGCCTTCCCCAAGAGCTCGCTCGCAGCTCCCTCTGTCATTCTCTCTCTCTCTCTTTTTGTTCTTCCTTCCTGCCGTTGTCTCTATTTCTAACACATTTTTGCTGCTGTGCAACATTAATCACTGAATATTTTCTCTAGCTTTCAAAAACCCAAATCAAAATTTGGTTGCTCATGGGTCCCTTAACCTACTTCAGTCCTAAATGAAAAAGACTATGGAGGCCGAGACACGGGCACAGGGTTTTAATTCTGTCTCGTCTCAGAAAGAGGACAGTCTTGCAGGAAATCATCTTACTGACCTTCCTTCAGGCTGTAGTTCTAAAGAATTTTCCATAAAAGCTGTCCTTGAATAAACAGCTCCTGCCTTGCCCATTTGGCCTGCTGTTATTCTGGAAGGCTTGTATCTGTCTATTCTAAATGGGTCTTTTCATCTCAGACAATTCAGTGGGGTGTCCAACTTTCAGCAGCTAAATGGTCTACCCATTCCTGCATATTTTCAGATTTTCATCTTCCATAACCACTTCCATAATGGTTCAAGTGAGAAACATTACCCGGAAAACCCAAAAGGGAAAAATTGGATGATGATGTTTTGATGAACAATTTTATTTAGGGATGTGGGCTCTACTAGAATGATTCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGACTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCATGCTCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCGCTCCCAGCATAGAATGATTCTTTAAATGATTTTTTTTAAAGGATTAGACTTAGGTACATTTTCAATATACTTTTATAGTTTTAGGTATATTTTCAATATAGTTTTGCCCTTCCTAATGAGAATCCTGAAAATATTTGAGCATAAACAAAAAACATTGCCTCATACCGTGATTTATTTGGTATCATCAGGCAAAGGGGCAGGTTATACCATTGTAGGCTATTAATTAAATTACCAGGAAAATTATTTGGCTGCCTGAACCATGCACAGTGATCGAACAGAAGACAGGAACCCGGCGTATGAAGGTGCTGTTTCCATTTTGTGTCTGGGGTTCCCTCAAACACACCCTTTAAAAGCCTGGTGCAAACCCATACGACATGACCATTTGCTTCCTTCCTTCCTTCTTTTTTTTTTTTTTTTGAGATGGAATCTCTCTCTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTCTGTATTTTTAGTAGAGATGGGGTTTCAACGTATTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCGACCCTCCTCAGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGTTGGACCATTTGCTTTCTGATTGGCTTCCACTGTGGCCTTAAGTCCCCCATAAGACATGGCTGTGTGGCATCTTACCCGCTTGGTGAGCTGAGTGTCCATCATGAAGTTATGAACGTGCTTCTCCGCTTTGGTGAGTTCCAGCTTTCGGGCCACCACGGCCACCACAAGGGTAGTGCAGCCTGCACCCTGCGGGGGGACATCAAGAGGACCAGAGGGGAAAGAACATATCATTAAGAGGCAAGATGAGAGACTCAACACGCCTGGCGGCCACGGGGGTAATTTCCTGGGAGTGGAGTGGGAACTTGAGCTCTCTGGCTGGTCACGACCAAGCCACAAAAATCTGTTGAAATCTGTCAGGACTCTGATGTCCTGACCCACAGAGGGGTCTGCAGTGCCTCTTGGGTTGTGCTCTGCAGCTGACCTCTGGGAGGCTGAGCTAGCCAGTTTCAATGGAGAAGGATGCTGGGTGGCGCCGAGGCTTTGGGGGGTTTAACCAACAACTAAGCACCTGGTCAGCTGCCAAGCTGTGCAGCGGAAGACAGAGGGGCCAGCACACACGGGCCCTCTCTCCCTCAGGCAGGTCTCCATCCCACTGCCAGCTCTAGACCAGCAGGCCTGGGAGGAAAGAAGGTAGGCCATCAGCTGGGGTGCAGATGGAACACCTGCCAGTGGCTGAGAGTGTTCCTGAAAATAATCGAATGAAGAGGCAATACCTTTCCCCAGGGCTTGTTTCACAGAGGGCACCCAGGTTGGCACGAACACGTGCACTCAGTGACTGTGCCTGCTCTACACTTGGGCTTTTTCACCTCAAGGTTTACGCTATGACTCAGCACAAGGAATCGGTTCCTTCCTGCCTTCACCAGGAGGCTCATGAATTCACCGTCATGCAGAGATTTTAAAGACAACACCACTTCTGCTGGATCAAAACCGGGATTTTAAGTGAGCCCGCAGCAGACCCTTGGGATTTTCTGGAACAGCGATCCTAGTCTGCTCGGTAGGTCCGTGCCAGGGGAGCCCGGGGGAGGGTGGGCAAGGAAGCAGGCTCTGCTGAGCCCCCAGAATGGTGGGACTCACTTTCTCTCTCCTAATCCTCTGGGTGCATACTTGACTGTCTGGGAAATAAGCAGGGAATTCCCTGCACATTCCAACATTCTCCCAATGCATTTTAAAATCCTCTTCGCTAGGCTTCTTGGTTGGCTTGTGAGCATAGGGGGAATTCAGAGACTCACTACTCCCCTGGCTCTTCGGCAGGCAGCGGGAGTCAGCTCCATCCTTCTGCAAGCGGACTCCCGTCAGAGACCATCGCCCTCTGCCTGCATGCTGTGCCCTGCGCCGCCCTGACCACCACTCATGGAAAGAGATGATGAACTTATTAAAGCCAACAACCGAATCCTGTATGTCAAACAGTAATTCTAGTTGCCACAGAACCCAGTCTAGCAGTTGAGGTCCCAGAATGGAAGGAATCTGTCAGTAACATTTTTGGCTCATCAGGTCTTACAAAATGTGTGAGAAGCAGAAAAGAATGTTTTTCAAAGGTACTATAATCTATAACCGACTTGGAAGGAATGCATATGGGTGGATCCATTCCCTACTCTCTCTTTTAGAAGCTATTTCTCTCTTTATCCCACAGGCTGACAAAGGCTAGCCTGTGTGAAGTTTCAATGTGGTTGAAGTTCACAATGCTTTCTCCTCGTTTCCCACAAGGGTCCCCATTAAAACAATCTAGTGTTTCTCAGTACATTTGTTGGCCTTGTCACAAAGTGAAAAGAACCAAGTCTGTGTGAACTTTCCTTTTCTGACCTCATTTTCCTCTTTTGTTCGAGGACGGCTGTGTTTTTTCAGCTTCTGTGACTTACAGGAGACTCTGTGCCCAATTTTCAAAGGATCTGGGCAGTTGCACAGCCTGGTCTGTAGCTGTAATCAATTTAGCCATGCCTCCAAAAGCAAAAAATAGCTTAAAAGAAGCCATCCTAGAGGGAAGATGTGTGCTCCCTTCCCCTCGACCGGACGGAGTATCATCCCTCTCCTTTATATGGAGTTCCAAAAGTACTTTGGGCTGAAAGCCCAAAAAGAGGGCTATATCATAGCGTTAAAAATGGAACATCAGATGGAGAGGGTTCTCCCCAGGTTCCATTCTCCCTCCTCTCGCTAGGCCCAGGCAAAACTCTACTTAAATCATCCCTGAAAGCTGGGGTCCAATAGGCCTGAAGAGGGAGCT
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Task1_train_1583
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This alteration occurs within gene KCNN3 (potassium calcium-activated channel subfamily N member 3) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Zimmermann-laband syndrome 3
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TCTCCATTGGGGGAAGAGTGTCTGCTTACCAGAGAAGGCTCATGAAGCCCTGTGCAGTGTGGTCCCACTCAGAGCAGATGTTGCAATGTCAGCTGCTGAGTAATGGCGAGGTTCTGAATAGGTGAGCATGGTGTGTCCCTGGGGCTCTGTGTGTGAGAAAGGTCTTCCAACACTGCACTGGCTCTCAGAACCTGAACCTGCATCCTGGAGCCTGAACCCTTGTTCTGCGGCAGCAGAATGCCCTCTCAGTTTGACCGTGTGTCTGTTGGCCAAAACGCTGAAAGAAATGTCTGCAAACAGAATGTCTCAAAAATAGGTAGGAGATACGATTCAAGGCACCCATGTAGGGTGTGTTGAGGCTAACTCCTCTCCAGACTTCTTTGTCTTGTTTGATCTCTGCTAGGACACTGGTGCATGGAAGATTTGGCAATATAATCGTAAGTGTTGACAAATTAAGGGCGACTACCAGGATTTGTGTAAATTACACAGGATGCTTCACCATACCTCCCAACATAATAAAAATAATCTATCTCAAGCAAACATAGCTTCATTCTATCTCAAGTGATCCTCATTTTAAAATGAGGAAACTGTAGCCCAGAGAGGTTAAGTAACTTGCCCTAGGTCTCACAGCTACTTAGGAGCAGAATCACGGTTTCTAACCTAGATTTAGACTCCACATGTCAAATAGATTAAAATGAATATCCAGGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGAATTTTGGGAGGCCAAGGTAGGAGGATCACTTGAAGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAAATTAGCCTGGTATGGTGGCGCATGCCTGTAATCTCAGCTACATGGGAGGCTGAGGCAGGAGAATTGCTTGAACACAGGAGGCAGAGGTTGCAGTGAGCAGAGACTATGCCACTGCACTCCAGCCTGGGCGAGAGAGCGAGACTCCATCTCAGATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAATGAAAATCCAGGACCCCTTGCAAGGAGAAGAGTCATTAAAGGCAGCTCGAGGGTGGTGGAAGGAGGTGGCTTCAGTCCTGCCCTTGAGCCTTGTTGATGGCTGTTCCAAGGAGTTGGCATTTTGTTCTACAGCCCTGGATCTCTGTCAGGCCACATCTCCCTTCTTTCCCATGAGTAGCTTCTCTGAATGACTCCCAACCACCAGCCTCCTAAAACAATGTTTCCCAAAGTATGTTCCATCAGTACAGTGCTTCTCAAACTAAGGTGCATATGAATCACCAGGTGACCTTGTTAAATGCAAATTCTGATTCATTCATTCTGGGCTAAGGCCTGAGATTCTGGGAACTCTAACAAGTTCCCAGTGATGCCAGTGCTGCTGGTCTGTGAACCAAACTTTGAGTAGCAAGGTACCAATAGTGCTTTATAATAAAAAGGATTTGCAGGCAAATACAATTAAGAAAGGCTGAACCAAACAAAAATAAATGGTTTCATTACTTCAGGACTTCTCAGAGCCTTTAAAATGCTAATAAGCATTATTAATACCCAAGAGGAGTAAGTTGCAATGTGTTATATGTGAGTTACTGATGTAACCAGAATGCTTTGATATATTGGTTTGCAAAGAAGGAACAGAAAATCAGGAAAATTCTGTGCCTTTTTCCCACCTTACTTTGGTTCCAATGCTGCAATTCTAGCTCATACTGAACCCCAACTCAGCACTCCCCTCTTTCCCATTGTCTCCTTTCAGGTGTCTGGGTACATGCCTGTCTCCTCCATCAGACCACATACTTCCTGGCACCCCTACTCCTCCTCCCTTCCCTGTCCCAGCACAGGCTCTGTACTCAGAAAGCCCCATGTGGAATACCTTTCACAGACACGGACGGTCCAGGCAGCAATGATCCACAGAGAGATGCTGAACACGAGCAGCACAGTGCCAGGGCAGATGGTCATGAGCGTCTTCATGACAAAGCGGGTGTTGAAGTTGATCTTGTTGAGGGCCCCGATGCTGCGGGACGAGGCATCGGTGAAGAGCTTGCTGTGCAGCAGCATGACTCGGGCGATCAGGTACAGGCGCAGGAACATGGGGATAGACAGGATGATGTCCACATCGGCCTCCGCCCGGGAGGGTGTGTAGGAGAAGGCCAGGCGTGCCGTCCAGAAGAACTTGTACTCGCCAGGAATGGGGTGGATGGCGCACACCAGCATCTCCAGGCTGATGTACAGGATGCGCTCGTAGGTCATGGCTATCCGCCAGTCATCCGCGCCATTGTCGATCACGAAGAGCTGGTGGGAGCAGAAAGTCCATTAGTGTGGCCAGGACCAGGAAGCCCACAGCAGGGTCCAGGCAGGACAGGTGGGGCAGGCTGGGGCAGGCTGCTGGGCTCAGGTCAGCCTGACCACCTCAGCATGCTCTTTAGGGGCCTTGCTATGTGGCAAGAGCCCTGTATGTGGAGTAGGGAGAGCTGGATTCAGTCTACCTGGGAAGCCCTGGCTAAGACACTTTGACTCTCTTGGCCTCACTTTCCTCCTCTGCAAATCGCTGCCTGAGATATAGTGATTTATAATAAGAAATAATGTACTTGGTCTTTATCCTGGTTTAGGCACAGTTCCCAAAACGCTCGGAATTTCCAAAGTGATAAGTGTCATTTGTATGCTAATGAGATGACTAGTGGCTGGGGTCGGTCGGGGTGGGGATCCAGGGTGGCCTCAGGATGGCGCTGGTTGCCAGGGGAACCAATCTGGTGATGAGAGGGTTGGAACTTTCAGCCCCACCCCACCACCTCCTGAGAAGGAAGAGGGGCCCGAAGGTTGAGTTGATCACCAATGGCCAATGATGTCATCAATTATGTCGGTGTAATGAAACCTCCACAAAATCCCAAAAAGACAGTGTTTTGTTTTGTTTTTTTAACTTTTATTTTAGGTTCAGGGGTACATGTGCAAGTTTGCTATATAGGTAAACTCGTGTTACAGAGATTTGTTGTGCAGATGATTTCGTCACCCAGGTACTATTGGGTACAGTACCCAATAGTTATTTTTTCTGATCCTCTCCCTCCCACTCTCCACCCTCAGTGTCTGTCGTTCCCCTCTTTGTGTTTCGATGAGCTTCCAGATAGCTGCACACATGGAGGTCCCTGGACACGTGGAGTGTTGCGTGCCCAGAGAGGGCATGGAAGCTCCACCCCTTCCCATGCGCCCTGCCCTTTGCTTCGCTCCCATATGGCTGCTCATCTGAATCCTTTGTAAGGTCCTTTATAATAAACCAGTAAATGTGTTTCCCTGAGTTCTGTGAGCTGCTCTAGAAAATTAATGAAAACCTGAGAAGGGCGTCCTGGGAATCCCTGATTTATAGCCACTTGGTCAGAGGCTCAGATAAAACAACCTGGGGCTGGTGACTAGCATCGGAAGTCAGGTAAATGTGGTGGGACTGAGCCCTCAACCTGTGGGAGCCAACACTAACTCCAGGCGGACAATCAGGCTTGAGTTATATTGCAGGACACTCAGCCAGTGTCCATTGGAGAATTGCTTGGTGTGTGGGAACCACCCCCTCCTTTTTGCTGACCACAAGTGTTCTATGTTGAGCCACTTCCCAAGGTCCCTTCCAGCACACAGGTGCCAAATTGGCTGTTTCACGATGGTGAGAAAGATCAACTCATTTATATTAGAAACACATCCCTGAGCCCCTGCCAGACCTGAGCTGAGCCCTGTAAGGGGATGTAAAGATGAAAAAGTCATGTTTCCTGCATGAGTGAACTCACAAGGGCTGGCACAGATTCCTTCTCCCCACTCAGAGAAGGGGGCAGCAAGTGTTTGCTGGCAGCACTGTGCTCTCAGACAGTGCAGTGAAGTGTTCACGGCACGGACTCTGGAGCCAGATTGCCTGATCCTAACACTACTGGCTCCATGATCCTGGGCAAATTACCGAACCACCCTGTGCCTCAGTTACCTCATCTGGGGATGATGATAATAACTGCTGCATAGAGGTCACTGTGAGGCTGCAGTGGGTTCGTATATGCAACATGCATGGAATCCTGCCTAGCACCCAGCACACTATGTA
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TCTCCATTGGGGGAAGAGTGTCTGCTTACCAGAGAAGGCTCATGAAGCCCTGTGCAGTGTGGTCCCACTCAGAGCAGATGTTGCAATGTCAGCTGCTGAGTAATGGCGAGGTTCTGAATAGGTGAGCATGGTGTGTCCCTGGGGCTCTGTGTGTGAGAAAGGTCTTCCAACACTGCACTGGCTCTCAGAACCTGAACCTGCATCCTGGAGCCTGAACCCTTGTTCTGCGGCAGCAGAATGCCCTCTCAGTTTGACCGTGTGTCTGTTGGCCAAAACGCTGAAAGAAATGTCTGCAAACAGAATGTCTCAAAAATAGGTAGGAGATACGATTCAAGGCACCCATGTAGGGTGTGTTGAGGCTAACTCCTCTCCAGACTTCTTTGTCTTGTTTGATCTCTGCTAGGACACTGGTGCATGGAAGATTTGGCAATATAATCGTAAGTGTTGACAAATTAAGGGCGACTACCAGGATTTGTGTAAATTACACAGGATGCTTCACCATACCTCCCAACATAATAAAAATAATCTATCTCAAGCAAACATAGCTTCATTCTATCTCAAGTGATCCTCATTTTAAAATGAGGAAACTGTAGCCCAGAGAGGTTAAGTAACTTGCCCTAGGTCTCACAGCTACTTAGGAGCAGAATCACGGTTTCTAACCTAGATTTAGACTCCACATGTCAAATAGATTAAAATGAATATCCAGGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGAATTTTGGGAGGCCAAGGTAGGAGGATCACTTGAAGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAAATTAGCCTGGTATGGTGGCGCATGCCTGTAATCTCAGCTACATGGGAGGCTGAGGCAGGAGAATTGCTTGAACACAGGAGGCAGAGGTTGCAGTGAGCAGAGACTATGCCACTGCACTCCAGCCTGGGCGAGAGAGCGAGACTCCATCTCAGATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAATGAAAATCCAGGACCCCTTGCAAGGAGAAGAGTCATTAAAGGCAGCTCGAGGGTGGTGGAAGGAGGTGGCTTCAGTCCTGCCCTTGAGCCTTGTTGATGGCTGTTCCAAGGAGTTGGCATTTTGTTCTACAGCCCTGGATCTCTGTCAGGCCACATCTCCCTTCTTTCCCATGAGTAGCTTCTCTGAATGACTCCCAACCACCAGCCTCCTAAAACAATGTTTCCCAAAGTATGTTCCATCAGTACAGTGCTTCTCAAACTAAGGTGCATATGAATCACCAGGTGACCTTGTTAAATGCAAATTCTGATTCATTCATTCTGGGCTAAGGCCTGAGATTCTGGGAACTCTAACAAGTTCCCAGTGATGCCAGTGCTGCTGGTCTGTGAACCAAACTTTGAGTAGCAAGGTACCAATAGTGCTTTATAATAAAAAGGATTTGCAGGCAAATACAATTAAGAAAGGCTGAACCAAACAAAAATAAATGGTTTCATTACTTCAGGACTTCTCAGAGCCTTTAAAATGCTAATAAGCATTATTAATACCCAAGAGGAGTAAGTTGCAATGTGTTATATGTGAGTTACTGATGTAACCAGAATGCTTTGATATATTGGTTTGCAAAGAAGGAACAGAAAATCAGGAAAATTCTGTGCCTTTTTCCCACCTTACTTTGGTTCCAATGCTGCAATTCTAGCTCATACTGAACCCCAACTCAGCACTCCCCTCTTTCCCATTGTCTCCTTTCAGGTGTCTGGGTACATGCCTGTCTCCTCCATCAGACCACATACTTCCTGGCACCCCTACTCCTCCTCCCTTCCCTGTCCCAGCACAGGCTCTGTACTCAGAAAGCCCCATGTGGAATACCTTTCACAGACACGGACGGTCCAGGCAGCAATGATCCACAGAGAGATGCTGAACACGAGCAGCACAGTGCCAGGGCAGATGGTCATGAGCGTCTTCATGACAAAGCGGGTGTTGAAGTTGATCTTGTTGAGGGCCCCGATGCAGCGGGACGAGGCATCGGTGAAGAGCTTGCTGTGCAGCAGCATGACTCGGGCGATCAGGTACAGGCGCAGGAACATGGGGATAGACAGGATGATGTCCACATCGGCCTCCGCCCGGGAGGGTGTGTAGGAGAAGGCCAGGCGTGCCGTCCAGAAGAACTTGTACTCGCCAGGAATGGGGTGGATGGCGCACACCAGCATCTCCAGGCTGATGTACAGGATGCGCTCGTAGGTCATGGCTATCCGCCAGTCATCCGCGCCATTGTCGATCACGAAGAGCTGGTGGGAGCAGAAAGTCCATTAGTGTGGCCAGGACCAGGAAGCCCACAGCAGGGTCCAGGCAGGACAGGTGGGGCAGGCTGGGGCAGGCTGCTGGGCTCAGGTCAGCCTGACCACCTCAGCATGCTCTTTAGGGGCCTTGCTATGTGGCAAGAGCCCTGTATGTGGAGTAGGGAGAGCTGGATTCAGTCTACCTGGGAAGCCCTGGCTAAGACACTTTGACTCTCTTGGCCTCACTTTCCTCCTCTGCAAATCGCTGCCTGAGATATAGTGATTTATAATAAGAAATAATGTACTTGGTCTTTATCCTGGTTTAGGCACAGTTCCCAAAACGCTCGGAATTTCCAAAGTGATAAGTGTCATTTGTATGCTAATGAGATGACTAGTGGCTGGGGTCGGTCGGGGTGGGGATCCAGGGTGGCCTCAGGATGGCGCTGGTTGCCAGGGGAACCAATCTGGTGATGAGAGGGTTGGAACTTTCAGCCCCACCCCACCACCTCCTGAGAAGGAAGAGGGGCCCGAAGGTTGAGTTGATCACCAATGGCCAATGATGTCATCAATTATGTCGGTGTAATGAAACCTCCACAAAATCCCAAAAAGACAGTGTTTTGTTTTGTTTTTTTAACTTTTATTTTAGGTTCAGGGGTACATGTGCAAGTTTGCTATATAGGTAAACTCGTGTTACAGAGATTTGTTGTGCAGATGATTTCGTCACCCAGGTACTATTGGGTACAGTACCCAATAGTTATTTTTTCTGATCCTCTCCCTCCCACTCTCCACCCTCAGTGTCTGTCGTTCCCCTCTTTGTGTTTCGATGAGCTTCCAGATAGCTGCACACATGGAGGTCCCTGGACACGTGGAGTGTTGCGTGCCCAGAGAGGGCATGGAAGCTCCACCCCTTCCCATGCGCCCTGCCCTTTGCTTCGCTCCCATATGGCTGCTCATCTGAATCCTTTGTAAGGTCCTTTATAATAAACCAGTAAATGTGTTTCCCTGAGTTCTGTGAGCTGCTCTAGAAAATTAATGAAAACCTGAGAAGGGCGTCCTGGGAATCCCTGATTTATAGCCACTTGGTCAGAGGCTCAGATAAAACAACCTGGGGCTGGTGACTAGCATCGGAAGTCAGGTAAATGTGGTGGGACTGAGCCCTCAACCTGTGGGAGCCAACACTAACTCCAGGCGGACAATCAGGCTTGAGTTATATTGCAGGACACTCAGCCAGTGTCCATTGGAGAATTGCTTGGTGTGTGGGAACCACCCCCTCCTTTTTGCTGACCACAAGTGTTCTATGTTGAGCCACTTCCCAAGGTCCCTTCCAGCACACAGGTGCCAAATTGGCTGTTTCACGATGGTGAGAAAGATCAACTCATTTATATTAGAAACACATCCCTGAGCCCCTGCCAGACCTGAGCTGAGCCCTGTAAGGGGATGTAAAGATGAAAAAGTCATGTTTCCTGCATGAGTGAACTCACAAGGGCTGGCACAGATTCCTTCTCCCCACTCAGAGAAGGGGGCAGCAAGTGTTTGCTGGCAGCACTGTGCTCTCAGACAGTGCAGTGAAGTGTTCACGGCACGGACTCTGGAGCCAGATTGCCTGATCCTAACACTACTGGCTCCATGATCCTGGGCAAATTACCGAACCACCCTGTGCCTCAGTTACCTCATCTGGGGATGATGATAATAACTGCTGCATAGAGGTCACTGTGAGGCTGCAGTGGGTTCGTATATGCAACATGCATGGAATCCTGCCTAGCACCCAGCACACTATGTA
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Task1_train_1584
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The gene KCNN3 (potassium calcium-activated channel subfamily N member 3), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Zimmermann-laband syndrome 3
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TGTGTCTGTTGGCCAAAACGCTGAAAGAAATGTCTGCAAACAGAATGTCTCAAAAATAGGTAGGAGATACGATTCAAGGCACCCATGTAGGGTGTGTTGAGGCTAACTCCTCTCCAGACTTCTTTGTCTTGTTTGATCTCTGCTAGGACACTGGTGCATGGAAGATTTGGCAATATAATCGTAAGTGTTGACAAATTAAGGGCGACTACCAGGATTTGTGTAAATTACACAGGATGCTTCACCATACCTCCCAACATAATAAAAATAATCTATCTCAAGCAAACATAGCTTCATTCTATCTCAAGTGATCCTCATTTTAAAATGAGGAAACTGTAGCCCAGAGAGGTTAAGTAACTTGCCCTAGGTCTCACAGCTACTTAGGAGCAGAATCACGGTTTCTAACCTAGATTTAGACTCCACATGTCAAATAGATTAAAATGAATATCCAGGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGAATTTTGGGAGGCCAAGGTAGGAGGATCACTTGAAGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAAATTAGCCTGGTATGGTGGCGCATGCCTGTAATCTCAGCTACATGGGAGGCTGAGGCAGGAGAATTGCTTGAACACAGGAGGCAGAGGTTGCAGTGAGCAGAGACTATGCCACTGCACTCCAGCCTGGGCGAGAGAGCGAGACTCCATCTCAGATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAATGAAAATCCAGGACCCCTTGCAAGGAGAAGAGTCATTAAAGGCAGCTCGAGGGTGGTGGAAGGAGGTGGCTTCAGTCCTGCCCTTGAGCCTTGTTGATGGCTGTTCCAAGGAGTTGGCATTTTGTTCTACAGCCCTGGATCTCTGTCAGGCCACATCTCCCTTCTTTCCCATGAGTAGCTTCTCTGAATGACTCCCAACCACCAGCCTCCTAAAACAATGTTTCCCAAAGTATGTTCCATCAGTACAGTGCTTCTCAAACTAAGGTGCATATGAATCACCAGGTGACCTTGTTAAATGCAAATTCTGATTCATTCATTCTGGGCTAAGGCCTGAGATTCTGGGAACTCTAACAAGTTCCCAGTGATGCCAGTGCTGCTGGTCTGTGAACCAAACTTTGAGTAGCAAGGTACCAATAGTGCTTTATAATAAAAAGGATTTGCAGGCAAATACAATTAAGAAAGGCTGAACCAAACAAAAATAAATGGTTTCATTACTTCAGGACTTCTCAGAGCCTTTAAAATGCTAATAAGCATTATTAATACCCAAGAGGAGTAAGTTGCAATGTGTTATATGTGAGTTACTGATGTAACCAGAATGCTTTGATATATTGGTTTGCAAAGAAGGAACAGAAAATCAGGAAAATTCTGTGCCTTTTTCCCACCTTACTTTGGTTCCAATGCTGCAATTCTAGCTCATACTGAACCCCAACTCAGCACTCCCCTCTTTCCCATTGTCTCCTTTCAGGTGTCTGGGTACATGCCTGTCTCCTCCATCAGACCACATACTTCCTGGCACCCCTACTCCTCCTCCCTTCCCTGTCCCAGCACAGGCTCTGTACTCAGAAAGCCCCATGTGGAATACCTTTCACAGACACGGACGGTCCAGGCAGCAATGATCCACAGAGAGATGCTGAACACGAGCAGCACAGTGCCAGGGCAGATGGTCATGAGCGTCTTCATGACAAAGCGGGTGTTGAAGTTGATCTTGTTGAGGGCCCCGATGCTGCGGGACGAGGCATCGGTGAAGAGCTTGCTGTGCAGCAGCATGACTCGGGCGATCAGGTACAGGCGCAGGAACATGGGGATAGACAGGATGATGTCCACATCGGCCTCCGCCCGGGAGGGTGTGTAGGAGAAGGCCAGGCGTGCCGTCCAGAAGAACTTGTACTCGCCAGGAATGGGGTGGATGGCGCACACCAGCATCTCCAGGCTGATGTACAGGATGCGCTCGTAGGTCATGGCTATCCGCCAGTCATCCGCGCCATTGTCGATCACGAAGAGCTGGTGGGAGCAGAAAGTCCATTAGTGTGGCCAGGACCAGGAAGCCCACAGCAGGGTCCAGGCAGGACAGGTGGGGCAGGCTGGGGCAGGCTGCTGGGCTCAGGTCAGCCTGACCACCTCAGCATGCTCTTTAGGGGCCTTGCTATGTGGCAAGAGCCCTGTATGTGGAGTAGGGAGAGCTGGATTCAGTCTACCTGGGAAGCCCTGGCTAAGACACTTTGACTCTCTTGGCCTCACTTTCCTCCTCTGCAAATCGCTGCCTGAGATATAGTGATTTATAATAAGAAATAATGTACTTGGTCTTTATCCTGGTTTAGGCACAGTTCCCAAAACGCTCGGAATTTCCAAAGTGATAAGTGTCATTTGTATGCTAATGAGATGACTAGTGGCTGGGGTCGGTCGGGGTGGGGATCCAGGGTGGCCTCAGGATGGCGCTGGTTGCCAGGGGAACCAATCTGGTGATGAGAGGGTTGGAACTTTCAGCCCCACCCCACCACCTCCTGAGAAGGAAGAGGGGCCCGAAGGTTGAGTTGATCACCAATGGCCAATGATGTCATCAATTATGTCGGTGTAATGAAACCTCCACAAAATCCCAAAAAGACAGTGTTTTGTTTTGTTTTTTTAACTTTTATTTTAGGTTCAGGGGTACATGTGCAAGTTTGCTATATAGGTAAACTCGTGTTACAGAGATTTGTTGTGCAGATGATTTCGTCACCCAGGTACTATTGGGTACAGTACCCAATAGTTATTTTTTCTGATCCTCTCCCTCCCACTCTCCACCCTCAGTGTCTGTCGTTCCCCTCTTTGTGTTTCGATGAGCTTCCAGATAGCTGCACACATGGAGGTCCCTGGACACGTGGAGTGTTGCGTGCCCAGAGAGGGCATGGAAGCTCCACCCCTTCCCATGCGCCCTGCCCTTTGCTTCGCTCCCATATGGCTGCTCATCTGAATCCTTTGTAAGGTCCTTTATAATAAACCAGTAAATGTGTTTCCCTGAGTTCTGTGAGCTGCTCTAGAAAATTAATGAAAACCTGAGAAGGGCGTCCTGGGAATCCCTGATTTATAGCCACTTGGTCAGAGGCTCAGATAAAACAACCTGGGGCTGGTGACTAGCATCGGAAGTCAGGTAAATGTGGTGGGACTGAGCCCTCAACCTGTGGGAGCCAACACTAACTCCAGGCGGACAATCAGGCTTGAGTTATATTGCAGGACACTCAGCCAGTGTCCATTGGAGAATTGCTTGGTGTGTGGGAACCACCCCCTCCTTTTTGCTGACCACAAGTGTTCTATGTTGAGCCACTTCCCAAGGTCCCTTCCAGCACACAGGTGCCAAATTGGCTGTTTCACGATGGTGAGAAAGATCAACTCATTTATATTAGAAACACATCCCTGAGCCCCTGCCAGACCTGAGCTGAGCCCTGTAAGGGGATGTAAAGATGAAAAAGTCATGTTTCCTGCATGAGTGAACTCACAAGGGCTGGCACAGATTCCTTCTCCCCACTCAGAGAAGGGGGCAGCAAGTGTTTGCTGGCAGCACTGTGCTCTCAGACAGTGCAGTGAAGTGTTCACGGCACGGACTCTGGAGCCAGATTGCCTGATCCTAACACTACTGGCTCCATGATCCTGGGCAAATTACCGAACCACCCTGTGCCTCAGTTACCTCATCTGGGGATGATGATAATAACTGCTGCATAGAGGTCACTGTGAGGCTGCAGTGGGTTCGTATATGCAACATGCATGGAATCCTGCCTAGCACCCAGCACACTATGTAACTATTAGCTATTCTTATTTGTAGCATTATTAATGGATCTGGTCTCGGTCTTTCTGTAAAATGACAGTTGGGCTCAGTGATGTCTAAACTTCCTTCTGGCCCTAAACTTTCACGAAGATGCTTCCTGCTGTCACCTCATGAGGATGGCTGTTCTCACAAGAATTGACTGAGCACCTGCTGTGTGTCCAGCCTTTGTCTTCCGGTAAGTCCCACTGTGGAGTCCCACCATATTTGATGACTGTGAAAGGGACTTCACA
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TGTGTCTGTTGGCCAAAACGCTGAAAGAAATGTCTGCAAACAGAATGTCTCAAAAATAGGTAGGAGATACGATTCAAGGCACCCATGTAGGGTGTGTTGAGGCTAACTCCTCTCCAGACTTCTTTGTCTTGTTTGATCTCTGCTAGGACACTGGTGCATGGAAGATTTGGCAATATAATCGTAAGTGTTGACAAATTAAGGGCGACTACCAGGATTTGTGTAAATTACACAGGATGCTTCACCATACCTCCCAACATAATAAAAATAATCTATCTCAAGCAAACATAGCTTCATTCTATCTCAAGTGATCCTCATTTTAAAATGAGGAAACTGTAGCCCAGAGAGGTTAAGTAACTTGCCCTAGGTCTCACAGCTACTTAGGAGCAGAATCACGGTTTCTAACCTAGATTTAGACTCCACATGTCAAATAGATTAAAATGAATATCCAGGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGAATTTTGGGAGGCCAAGGTAGGAGGATCACTTGAAGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAAATTAGCCTGGTATGGTGGCGCATGCCTGTAATCTCAGCTACATGGGAGGCTGAGGCAGGAGAATTGCTTGAACACAGGAGGCAGAGGTTGCAGTGAGCAGAGACTATGCCACTGCACTCCAGCCTGGGCGAGAGAGCGAGACTCCATCTCAGATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAATGAAAATCCAGGACCCCTTGCAAGGAGAAGAGTCATTAAAGGCAGCTCGAGGGTGGTGGAAGGAGGTGGCTTCAGTCCTGCCCTTGAGCCTTGTTGATGGCTGTTCCAAGGAGTTGGCATTTTGTTCTACAGCCCTGGATCTCTGTCAGGCCACATCTCCCTTCTTTCCCATGAGTAGCTTCTCTGAATGACTCCCAACCACCAGCCTCCTAAAACAATGTTTCCCAAAGTATGTTCCATCAGTACAGTGCTTCTCAAACTAAGGTGCATATGAATCACCAGGTGACCTTGTTAAATGCAAATTCTGATTCATTCATTCTGGGCTAAGGCCTGAGATTCTGGGAACTCTAACAAGTTCCCAGTGATGCCAGTGCTGCTGGTCTGTGAACCAAACTTTGAGTAGCAAGGTACCAATAGTGCTTTATAATAAAAAGGATTTGCAGGCAAATACAATTAAGAAAGGCTGAACCAAACAAAAATAAATGGTTTCATTACTTCAGGACTTCTCAGAGCCTTTAAAATGCTAATAAGCATTATTAATACCCAAGAGGAGTAAGTTGCAATGTGTTATATGTGAGTTACTGATGTAACCAGAATGCTTTGATATATTGGTTTGCAAAGAAGGAACAGAAAATCAGGAAAATTCTGTGCCTTTTTCCCACCTTACTTTGGTTCCAATGCTGCAATTCTAGCTCATACTGAACCCCAACTCAGCACTCCCCTCTTTCCCATTGTCTCCTTTCAGGTGTCTGGGTACATGCCTGTCTCCTCCATCAGACCACATACTTCCTGGCACCCCTACTCCTCCTCCCTTCCCTGTCCCAGCACAGGCTCTGTACTCAGAAAGCCCCATGTGGAATACCTTTCACAGACACGGACGGTCCAGGCAGCAATGATCCACAGAGAGATGCTGAACACGAGCAGCACAGTGCCAGGGCAGATGGTCATGAGCGTCTTCATGACAAAGCGGGTGTTGAAGTTGATCTTGTTGAGGGCCCCGATGCTGCGGGACGAGGCATCGGTGAAGAGCTTGCTGTGCAGCAGCATGACTCGGGCGATCAGGTACAGGCGCAGGAACATGGGGATAGACAGGATGATGTCCACATCGGCCTCCGCCCGGGAGGGTGTGTAGGAGAAGGCCAGGCGTGCCGTCCAGAAGAACTTGTACTCGCCAGGAATGGGGTGGATGGCGCACACCAGCATCTCCAGGCTGATGTACAGGATGCGCTCGTAGGTCATGGCTATCCGCCAGTCATCCGCGTCATTGTCGATCACGAAGAGCTGGTGGGAGCAGAAAGTCCATTAGTGTGGCCAGGACCAGGAAGCCCACAGCAGGGTCCAGGCAGGACAGGTGGGGCAGGCTGGGGCAGGCTGCTGGGCTCAGGTCAGCCTGACCACCTCAGCATGCTCTTTAGGGGCCTTGCTATGTGGCAAGAGCCCTGTATGTGGAGTAGGGAGAGCTGGATTCAGTCTACCTGGGAAGCCCTGGCTAAGACACTTTGACTCTCTTGGCCTCACTTTCCTCCTCTGCAAATCGCTGCCTGAGATATAGTGATTTATAATAAGAAATAATGTACTTGGTCTTTATCCTGGTTTAGGCACAGTTCCCAAAACGCTCGGAATTTCCAAAGTGATAAGTGTCATTTGTATGCTAATGAGATGACTAGTGGCTGGGGTCGGTCGGGGTGGGGATCCAGGGTGGCCTCAGGATGGCGCTGGTTGCCAGGGGAACCAATCTGGTGATGAGAGGGTTGGAACTTTCAGCCCCACCCCACCACCTCCTGAGAAGGAAGAGGGGCCCGAAGGTTGAGTTGATCACCAATGGCCAATGATGTCATCAATTATGTCGGTGTAATGAAACCTCCACAAAATCCCAAAAAGACAGTGTTTTGTTTTGTTTTTTTAACTTTTATTTTAGGTTCAGGGGTACATGTGCAAGTTTGCTATATAGGTAAACTCGTGTTACAGAGATTTGTTGTGCAGATGATTTCGTCACCCAGGTACTATTGGGTACAGTACCCAATAGTTATTTTTTCTGATCCTCTCCCTCCCACTCTCCACCCTCAGTGTCTGTCGTTCCCCTCTTTGTGTTTCGATGAGCTTCCAGATAGCTGCACACATGGAGGTCCCTGGACACGTGGAGTGTTGCGTGCCCAGAGAGGGCATGGAAGCTCCACCCCTTCCCATGCGCCCTGCCCTTTGCTTCGCTCCCATATGGCTGCTCATCTGAATCCTTTGTAAGGTCCTTTATAATAAACCAGTAAATGTGTTTCCCTGAGTTCTGTGAGCTGCTCTAGAAAATTAATGAAAACCTGAGAAGGGCGTCCTGGGAATCCCTGATTTATAGCCACTTGGTCAGAGGCTCAGATAAAACAACCTGGGGCTGGTGACTAGCATCGGAAGTCAGGTAAATGTGGTGGGACTGAGCCCTCAACCTGTGGGAGCCAACACTAACTCCAGGCGGACAATCAGGCTTGAGTTATATTGCAGGACACTCAGCCAGTGTCCATTGGAGAATTGCTTGGTGTGTGGGAACCACCCCCTCCTTTTTGCTGACCACAAGTGTTCTATGTTGAGCCACTTCCCAAGGTCCCTTCCAGCACACAGGTGCCAAATTGGCTGTTTCACGATGGTGAGAAAGATCAACTCATTTATATTAGAAACACATCCCTGAGCCCCTGCCAGACCTGAGCTGAGCCCTGTAAGGGGATGTAAAGATGAAAAAGTCATGTTTCCTGCATGAGTGAACTCACAAGGGCTGGCACAGATTCCTTCTCCCCACTCAGAGAAGGGGGCAGCAAGTGTTTGCTGGCAGCACTGTGCTCTCAGACAGTGCAGTGAAGTGTTCACGGCACGGACTCTGGAGCCAGATTGCCTGATCCTAACACTACTGGCTCCATGATCCTGGGCAAATTACCGAACCACCCTGTGCCTCAGTTACCTCATCTGGGGATGATGATAATAACTGCTGCATAGAGGTCACTGTGAGGCTGCAGTGGGTTCGTATATGCAACATGCATGGAATCCTGCCTAGCACCCAGCACACTATGTAACTATTAGCTATTCTTATTTGTAGCATTATTAATGGATCTGGTCTCGGTCTTTCTGTAAAATGACAGTTGGGCTCAGTGATGTCTAAACTTCCTTCTGGCCCTAAACTTTCACGAAGATGCTTCCTGCTGTCACCTCATGAGGATGGCTGTTCTCACAAGAATTGACTGAGCACCTGCTGTGTGTCCAGCCTTTGTCTTCCGGTAAGTCCCACTGTGGAGTCCCACCATATTTGATGACTGTGAAAGGGACTTCACA
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Task1_train_1585
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The gene KCNN3 (potassium calcium-activated channel subfamily N member 3), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Zimmermann-laband syndrome 3
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ATCAGTTTTCCCCAGTGAGGGCCCCTGGTCTCCAAGGGAGGACTGGAGAGAGCCAGGGCTGTGACCAGGGCAGCTGCCAGTCCTAGCGAGGCTGCCAGCCCCATATCCTGGAGCGCCCAGCAGGAGAGGCGGTTCTGAGAAGGCAGCGAGCAGAAGGACCCGCAGACGCAGAGGCTCATTACAGGGAATGACTAAGTGAGCTGCGCTTCCAAGGGAAACCCCACTCGCTTCTGCTCGCTGAGACGCTCATCCTTGAGCTATTTTGACTAAGGCGGCTTCCAGGTGCTGCCCTCCGCTGGGGCAGCCCACTGAGAGAGCAGCCGGGTTGCTGGAGGACCCTCTGCCTGGAAGTCTTGGTCCTGGCTATTCAGGTCGTCTGACAGGTCTGCCCCACCCGTTTCCAGGGCGGGAAAGTCTGCCCATCACCGATTAAAGTGAGATGCTGGGAATGGGGGAAATCCGATCAGCACCTCCTAGGTTTTTGCGGCTGGATTTCAATAAGGAATGTGACAGTCTCGCAGCAGCTGTGCCCTGCCTGAAACAAGCTCTATTTGAAACCTCCAACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTT
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ATCAGTTTTCCCCAGTGAGGGCCCCTGGTCTCCAAGGGAGGACTGGAGAGAGCCAGGGCTGTGACCAGGGCAGCTGCCAGTCCTAGCGAGGCTGCCAGCCCCATATCCTGGAGCGCCCAGCAGGAGAGGCGGTTCTGAGAAGGCAGCGAGCAGAAGGACCCGCAGACGCAGAGGCTCATTACAGGGAATGACTAAGTGAGCTGCGCTTCCAAGGGAAACCCCACTCGCTTCTGCTCGCTGAGACGCTCATCCTTGAGCTATTTTGACTAAGGCGGCTTCCAGGTGCTGCCCTCCGCTGGGGCAGCCCACTGAGAGAGCAGCCGGGTTGCTGGAGGACCCTCTGCCTGGAAGTCTTGGTCCTGGCTATTCAGGTCGTCTGACAGGTCTGCCCCACCCGTTTCCAGGGCGGGAAAGTCTGCCCATCACCGATTAAAGTGAGATGCTGGGAATGGGGGAAATCCGATCAGCACCTCCTAGGTTTTTGCGGCTGGATTTCAATAAGGAATGTGACAGTCTCGCAGCAGCTGTGCCCTGCCTGAAACAAGCTCTATTTGAAACCTCCAACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTCATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTT
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Task1_train_1586
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An alteration has been detected in FLAD1 (flavin adenine dinucleotide synthetase 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; FLAD1-related disorder
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TTGAGCCCAAATTCAATAGCAGGCATTGCACTTCCTACTGTGGATAGAATAGTGACTTAGACTTGTGCTGTCCAATATAGCCATTAATTATTTATTTATACTTAAATTTTAATTAATTAGAATGAAATACATATGACTAAAAACCACTGAATTATATACTTTAAAAGGATGAATTTGATGGTATGTGGATACCTCAATTTTTAAAATTAAGTACAATTAAAAATTCAGTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCCTGTAGTCCTAGTTACTCGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACGGAGGTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAATATATATATATATATGTATATATATATATACACACACACATACACAGGCCGGGCGTAGTGGCTTACACCTGTAATCCCTGCACTTTGGGAGGCTGAGGCAGGTGGATCGCCTGAGGTCAGGAGATCGAGACCAGCCTAACCAAAATGATGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCGGAGCGTGGTGGCAGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTATACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCCAAACAAACAAAAAAAAAATACAGTTATTCAGTTGTACTAGCCACATTTCAAATGACCACCATATTAGACAGTAGAGATACAGAACATTTCCATCATCACAGGAAGTTCTGGCCAGGCACAGTGGCTCACACCTGTAACCCCAGCACTCTGGGAGGCCGAGGTGGGCTGATCAATGCCTGTAGTCCCAGCTACTCAGGCTGAGGCGGGAAGATCGCTTGAGCCAGGGAAGTCGAGGCTGTAGTGAGCCATGATCATGCCAGTGCACTCCAGCCTGGGCAACAGTAAAGGCCCTGTCTAAAAAAAATAGGGCTGGGCACGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCACATCACGAGGTCAGGATTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAATCTGGGAAGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATAGGGCCGGGCATGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGTGGCGGGCGGATCATGAAGTCAGGAGATGGAGACCATCCTGGCTACACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACAGTGGTGGGCGCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCACGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAATAGACGGTTTCTCCCTGTCCTCAAGCTCCACCCTTGCACTAGAGGGTGGTTCAAGAATGGAAAGCAGAGAGTGGAGAAGATGAAGTCCTTCTCTTTCTCTTTGCATACATAGAGCAAGCTATACCAGAGAATCAGATAGCAAGCCCTCCCTCAGAGGCCAAGGGAGCAGAAGAGCCATGGATGGGCCCCTTCCCAGGACAGCAGGGGTAGAAGTGGGAAAGGTGAGCATTTGTGACTATTCTATTACTCTGACCTCCCAGGACTGGACCTACAGAGACATCTGGGATTTTCTGCGTCAGCTGTTTGTCCCATACTGTATCCTGTATGACCGAGGGTAAGGGTATTAGGGGAAGGGAATGGGTAAGGGAGTTTTTAGGGTGCTGGGATAGGGAGGGCCAATAGGATCGCCCACCCTACCACATGCTTGCCCTCCACCCTCCCTGCTCCAGATACACATCACTGGGGAGTCGGGAGAATACCGTGCGGAACCCGGCCCTGAAGTGCCTGAGCCCAGGAGGACACCCCACATACCGTCCAGCCTATCTACTGGAGAACGAAGAAGAGGAGCGGAACTCCCGCACATGACCTCCCACCCTAGGAGGGAGGGAAGGACACCGTCCTAGGGTATAACCTGGCAATAAACCGTGCCTCTCACTGTGCCTGTTGCTCTAGCTGTGTCTTCCTGCTCCAGAGGATGGGAGAAGCAGAAGTGGGTCAAATGCTGCCAGCTCTGACTGGCTGTGCTCACTCTAAGGGGCCCAGGGGCAGGGCAGAACAGGCTGGAAAGGAGCTCTCACTGATGGTTCTCAATGTCAGCCTCAGCAGGAGCCCACCAGAGGGCGAAAGCAGGAGTTGTGCCAACCACTGGGAAAAGGGCAATCAGGCAGGGCACCACCTGGGCTGGAAGAGGGGAAGCTGCCTTGGCCTAGCTGTGGAGGATGAAAGATGGAGTGGCCAGGCCCTCCCTCCCACTAACCCCACCCTCCCATCCCTGTCTAGAGGGGCTGACTCAGCCTGTTCCCAGGCCTAGAACCTTCCCTTTGCTAGACCCTGGATCCTTTGTCTCTGTAGTCATGAGGCTGAAGGGGGTGGGGACAGTGTTGATAAAAGGCACTAGAGGCAGCTCCCACACCCTTCCTCGGAACTGTTGCCCACATGCAGCCCCGGACACAGCCCCTAGCCCAAACCCTACCCTTCTTCCTCGGAGGGGCCCCTCGAGACACTGGGCTGCGGGTGCCTGTCATTAAGATGGGCACAGGGTGGGAGGGCTTCCAGCGGACCCTGAAGGAAGTCGCCTACATCCTCCTCTGCTGCTGGTGTATCAAGGAACTGCTGGATTAATGGTAGCAGGGAACTGCCTCCTCTCCCCACCAGCACCATGGCTGGCATCGCTCAGGTGGGCAGGGTAGAGTAAACAGGAGGCATAGCTGCAGCTTCTGTGGCAGAGCTTGCCTTAGCTTCTCATTCTCTTCTTTAGCCCCCAGCCCAATTGCCATCAAGACTCCTGAAGCCAGCTGTGCTTGACCAAGGATGGGCCATAAACAATGAGTAAACAGTAAAGTGTGGATCCTGCTTTGAGCTGTGTCATCTAGCAGACCTGCCTCATCTCTGAGCCTCCTTCATTCCCAACCCCTGCCTCTGGTGGACCTCTGGTGGGCAGGAGCTTGGACTGCTCTGGCTAGGACCCCAGTAAGATTGTGGCAAGACCTGGCACTCCTCCAAGCTTGGCACAGTGAGCCCACCAGCTCAGATGGTTGATCTTACCATACCCTCATAGTACCAAGAATGGACTGCCCCCTAAGAAACCTGTTTGAGAATCACTGAATTATAAATATAATCCATAGGCCTTGAGGCCCAAGATTATAAGTGTCTAAAGGGGAATCAGAAAAAGTCAGCACTAGAACGGTCTGGGAGCAAGGGTGCAGACCAGGGAGGGAAGGAGCTTGTCCTGAATAGAACCAAGATTGAAAGCCAGGTTTTCTGACTCACTGGTTCCTGAGTGGGGAGGGTGGAAGACAGTTCAGGTTCCTCTCAATCTGTGGGTAAGGAGGGGACCCAGCTTGAGTAGGGTCTTCATCTGTGAGGCCAAGGGTGTGTGGAAACCCAGAGGACCCAGCCCTTTCCCAAATAGAAGACCTGGTCCAGGCAGCTTCCTGCCTCTGAGGATCTTGGGGAAAGCACTGCGCTGAGGCTAGTCCCCAGCTCATCAAGGAAGTAGGACCCCATGAGCTACAAGAGCTCCCAGCTCACATACAAAGTTACCAGAGAAAGACACCTGTGTGGCCACACAGGTCCCTCAGGCTTATCATGACACAGCCCTATCAGGACATAAACAGCTAGA
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TTGAGCCCAAATTCAATAGCAGGCATTGCACTTCCTACTGTGGATAGAATAGTGACTTAGACTTGTGCTGTCCAATATAGCCATTAATTATTTATTTATACTTAAATTTTAATTAATTAGAATGAAATACATATGACTAAAAACCACTGAATTATATACTTTAAAAGGATGAATTTGATGGTATGTGGATACCTCAATTTTTAAAATTAAGTACAATTAAAAATTCAGTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCCTGTAGTCCTAGTTACTCGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACGGAGGTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAATATATATATATATATGTATATATATATATACACACACACATACACAGGCCGGGCGTAGTGGCTTACACCTGTAATCCCTGCACTTTGGGAGGCTGAGGCAGGTGGATCGCCTGAGGTCAGGAGATCGAGACCAGCCTAACCAAAATGATGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCGGAGCGTGGTGGCAGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTATACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCCAAACAAACAAAAAAAAAATACAGTTATTCAGTTGTACTAGCCACATTTCAAATGACCACCATATTAGACAGTAGAGATACAGAACATTTCCATCATCACAGGAAGTTCTGGCCAGGCACAGTGGCTCACACCTGTAACCCCAGCACTCTGGGAGGCCGAGGTGGGCTGATCAATGCCTGTAGTCCCAGCTACTCAGGCTGAGGCGGGAAGATCGCTTGAGCCAGGGAAGTCGAGGCTGTAGTGAGCCATGATCATGCCAGTGCACTCCAGCCTGGGCAACAGTAAAGGCCCTGTCTAAAAAAAATAGGGCTGGGCACGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCACATCACGAGGTCAGGATTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAATCTGGGAAGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATAGGGCCGGGCATGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGTGGCGGGCGGATCATGAAGTCAGGAGATGGAGACCATCCTGGCTACACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACAGTGGTGGGCGCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCACGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAATAGACGGTTTCTCCCTGTCCTCAAGCTCCACCCTTGCACTAGAGGGTGGTTCAAGAATGGAAAGCAGAGAGTGGAGAAGATGAAGTCCTTCTCTTTCTCTTTGCATACATAGAGCAAGCTATACCAGAGAATCAGATAGCAAGCCCTCCCTCAGAGGCCAAGGGAGCAGAAGAGCCATGGATGGGCCCCTTCCCAGGACAGCAGGGGTAGAAGTGGGAAAGGTGAGCATTTGTGACTATTCTATTACTCTGACCTCCCAGGACTGGACCTACAGAGACATCTGGGATTTTCTGTGTCAGCTGTTTGTCCCATACTGTATCCTGTATGACCGAGGGTAAGGGTATTAGGGGAAGGGAATGGGTAAGGGAGTTTTTAGGGTGCTGGGATAGGGAGGGCCAATAGGATCGCCCACCCTACCACATGCTTGCCCTCCACCCTCCCTGCTCCAGATACACATCACTGGGGAGTCGGGAGAATACCGTGCGGAACCCGGCCCTGAAGTGCCTGAGCCCAGGAGGACACCCCACATACCGTCCAGCCTATCTACTGGAGAACGAAGAAGAGGAGCGGAACTCCCGCACATGACCTCCCACCCTAGGAGGGAGGGAAGGACACCGTCCTAGGGTATAACCTGGCAATAAACCGTGCCTCTCACTGTGCCTGTTGCTCTAGCTGTGTCTTCCTGCTCCAGAGGATGGGAGAAGCAGAAGTGGGTCAAATGCTGCCAGCTCTGACTGGCTGTGCTCACTCTAAGGGGCCCAGGGGCAGGGCAGAACAGGCTGGAAAGGAGCTCTCACTGATGGTTCTCAATGTCAGCCTCAGCAGGAGCCCACCAGAGGGCGAAAGCAGGAGTTGTGCCAACCACTGGGAAAAGGGCAATCAGGCAGGGCACCACCTGGGCTGGAAGAGGGGAAGCTGCCTTGGCCTAGCTGTGGAGGATGAAAGATGGAGTGGCCAGGCCCTCCCTCCCACTAACCCCACCCTCCCATCCCTGTCTAGAGGGGCTGACTCAGCCTGTTCCCAGGCCTAGAACCTTCCCTTTGCTAGACCCTGGATCCTTTGTCTCTGTAGTCATGAGGCTGAAGGGGGTGGGGACAGTGTTGATAAAAGGCACTAGAGGCAGCTCCCACACCCTTCCTCGGAACTGTTGCCCACATGCAGCCCCGGACACAGCCCCTAGCCCAAACCCTACCCTTCTTCCTCGGAGGGGCCCCTCGAGACACTGGGCTGCGGGTGCCTGTCATTAAGATGGGCACAGGGTGGGAGGGCTTCCAGCGGACCCTGAAGGAAGTCGCCTACATCCTCCTCTGCTGCTGGTGTATCAAGGAACTGCTGGATTAATGGTAGCAGGGAACTGCCTCCTCTCCCCACCAGCACCATGGCTGGCATCGCTCAGGTGGGCAGGGTAGAGTAAACAGGAGGCATAGCTGCAGCTTCTGTGGCAGAGCTTGCCTTAGCTTCTCATTCTCTTCTTTAGCCCCCAGCCCAATTGCCATCAAGACTCCTGAAGCCAGCTGTGCTTGACCAAGGATGGGCCATAAACAATGAGTAAACAGTAAAGTGTGGATCCTGCTTTGAGCTGTGTCATCTAGCAGACCTGCCTCATCTCTGAGCCTCCTTCATTCCCAACCCCTGCCTCTGGTGGACCTCTGGTGGGCAGGAGCTTGGACTGCTCTGGCTAGGACCCCAGTAAGATTGTGGCAAGACCTGGCACTCCTCCAAGCTTGGCACAGTGAGCCCACCAGCTCAGATGGTTGATCTTACCATACCCTCATAGTACCAAGAATGGACTGCCCCCTAAGAAACCTGTTTGAGAATCACTGAATTATAAATATAATCCATAGGCCTTGAGGCCCAAGATTATAAGTGTCTAAAGGGGAATCAGAAAAAGTCAGCACTAGAACGGTCTGGGAGCAAGGGTGCAGACCAGGGAGGGAAGGAGCTTGTCCTGAATAGAACCAAGATTGAAAGCCAGGTTTTCTGACTCACTGGTTCCTGAGTGGGGAGGGTGGAAGACAGTTCAGGTTCCTCTCAATCTGTGGGTAAGGAGGGGACCCAGCTTGAGTAGGGTCTTCATCTGTGAGGCCAAGGGTGTGTGGAAACCCAGAGGACCCAGCCCTTTCCCAAATAGAAGACCTGGTCCAGGCAGCTTCCTGCCTCTGAGGATCTTGGGGAAAGCACTGCGCTGAGGCTAGTCCCCAGCTCATCAAGGAAGTAGGACCCCATGAGCTACAAGAGCTCCCAGCTCACATACAAAGTTACCAGAGAAAGACACCTGTGTGGCCACACAGGTCCCTCAGGCTTATCATGACACAGCCCTATCAGGACATAAACAGCTAGA
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Task1_train_1587
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A sequence alteration has been identified in FLAD1 (flavin adenine dinucleotide synthetase 1) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Multiple acyl-CoA dehydrogenase deficiency
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TTGAGCCCAAATTCAATAGCAGGCATTGCACTTCCTACTGTGGATAGAATAGTGACTTAGACTTGTGCTGTCCAATATAGCCATTAATTATTTATTTATACTTAAATTTTAATTAATTAGAATGAAATACATATGACTAAAAACCACTGAATTATATACTTTAAAAGGATGAATTTGATGGTATGTGGATACCTCAATTTTTAAAATTAAGTACAATTAAAAATTCAGTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCCTGTAGTCCTAGTTACTCGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACGGAGGTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAATATATATATATATATGTATATATATATATACACACACACATACACAGGCCGGGCGTAGTGGCTTACACCTGTAATCCCTGCACTTTGGGAGGCTGAGGCAGGTGGATCGCCTGAGGTCAGGAGATCGAGACCAGCCTAACCAAAATGATGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCGGAGCGTGGTGGCAGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTATACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCCAAACAAACAAAAAAAAAATACAGTTATTCAGTTGTACTAGCCACATTTCAAATGACCACCATATTAGACAGTAGAGATACAGAACATTTCCATCATCACAGGAAGTTCTGGCCAGGCACAGTGGCTCACACCTGTAACCCCAGCACTCTGGGAGGCCGAGGTGGGCTGATCAATGCCTGTAGTCCCAGCTACTCAGGCTGAGGCGGGAAGATCGCTTGAGCCAGGGAAGTCGAGGCTGTAGTGAGCCATGATCATGCCAGTGCACTCCAGCCTGGGCAACAGTAAAGGCCCTGTCTAAAAAAAATAGGGCTGGGCACGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCACATCACGAGGTCAGGATTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAATCTGGGAAGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATAGGGCCGGGCATGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGTGGCGGGCGGATCATGAAGTCAGGAGATGGAGACCATCCTGGCTACACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACAGTGGTGGGCGCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCACGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAATAGACGGTTTCTCCCTGTCCTCAAGCTCCACCCTTGCACTAGAGGGTGGTTCAAGAATGGAAAGCAGAGAGTGGAGAAGATGAAGTCCTTCTCTTTCTCTTTGCATACATAGAGCAAGCTATACCAGAGAATCAGATAGCAAGCCCTCCCTCAGAGGCCAAGGGAGCAGAAGAGCCATGGATGGGCCCCTTCCCAGGACAGCAGGGGTAGAAGTGGGAAAGGTGAGCATTTGTGACTATTCTATTACTCTGACCTCCCAGGACTGGACCTACAGAGACATCTGGGATTTTCTGCGTCAGCTGTTTGTCCCATACTGTATCCTGTATGACCGAGGGTAAGGGTATTAGGGGAAGGGAATGGGTAAGGGAGTTTTTAGGGTGCTGGGATAGGGAGGGCCAATAGGATCGCCCACCCTACCACATGCTTGCCCTCCACCCTCCCTGCTCCAGATACACATCACTGGGGAGTCGGGAGAATACCGTGCGGAACCCGGCCCTGAAGTGCCTGAGCCCAGGAGGACACCCCACATACCGTCCAGCCTATCTACTGGAGAACGAAGAAGAGGAGCGGAACTCCCGCACATGACCTCCCACCCTAGGAGGGAGGGAAGGACACCGTCCTAGGGTATAACCTGGCAATAAACCGTGCCTCTCACTGTGCCTGTTGCTCTAGCTGTGTCTTCCTGCTCCAGAGGATGGGAGAAGCAGAAGTGGGTCAAATGCTGCCAGCTCTGACTGGCTGTGCTCACTCTAAGGGGCCCAGGGGCAGGGCAGAACAGGCTGGAAAGGAGCTCTCACTGATGGTTCTCAATGTCAGCCTCAGCAGGAGCCCACCAGAGGGCGAAAGCAGGAGTTGTGCCAACCACTGGGAAAAGGGCAATCAGGCAGGGCACCACCTGGGCTGGAAGAGGGGAAGCTGCCTTGGCCTAGCTGTGGAGGATGAAAGATGGAGTGGCCAGGCCCTCCCTCCCACTAACCCCACCCTCCCATCCCTGTCTAGAGGGGCTGACTCAGCCTGTTCCCAGGCCTAGAACCTTCCCTTTGCTAGACCCTGGATCCTTTGTCTCTGTAGTCATGAGGCTGAAGGGGGTGGGGACAGTGTTGATAAAAGGCACTAGAGGCAGCTCCCACACCCTTCCTCGGAACTGTTGCCCACATGCAGCCCCGGACACAGCCCCTAGCCCAAACCCTACCCTTCTTCCTCGGAGGGGCCCCTCGAGACACTGGGCTGCGGGTGCCTGTCATTAAGATGGGCACAGGGTGGGAGGGCTTCCAGCGGACCCTGAAGGAAGTCGCCTACATCCTCCTCTGCTGCTGGTGTATCAAGGAACTGCTGGATTAATGGTAGCAGGGAACTGCCTCCTCTCCCCACCAGCACCATGGCTGGCATCGCTCAGGTGGGCAGGGTAGAGTAAACAGGAGGCATAGCTGCAGCTTCTGTGGCAGAGCTTGCCTTAGCTTCTCATTCTCTTCTTTAGCCCCCAGCCCAATTGCCATCAAGACTCCTGAAGCCAGCTGTGCTTGACCAAGGATGGGCCATAAACAATGAGTAAACAGTAAAGTGTGGATCCTGCTTTGAGCTGTGTCATCTAGCAGACCTGCCTCATCTCTGAGCCTCCTTCATTCCCAACCCCTGCCTCTGGTGGACCTCTGGTGGGCAGGAGCTTGGACTGCTCTGGCTAGGACCCCAGTAAGATTGTGGCAAGACCTGGCACTCCTCCAAGCTTGGCACAGTGAGCCCACCAGCTCAGATGGTTGATCTTACCATACCCTCATAGTACCAAGAATGGACTGCCCCCTAAGAAACCTGTTTGAGAATCACTGAATTATAAATATAATCCATAGGCCTTGAGGCCCAAGATTATAAGTGTCTAAAGGGGAATCAGAAAAAGTCAGCACTAGAACGGTCTGGGAGCAAGGGTGCAGACCAGGGAGGGAAGGAGCTTGTCCTGAATAGAACCAAGATTGAAAGCCAGGTTTTCTGACTCACTGGTTCCTGAGTGGGGAGGGTGGAAGACAGTTCAGGTTCCTCTCAATCTGTGGGTAAGGAGGGGACCCAGCTTGAGTAGGGTCTTCATCTGTGAGGCCAAGGGTGTGTGGAAACCCAGAGGACCCAGCCCTTTCCCAAATAGAAGACCTGGTCCAGGCAGCTTCCTGCCTCTGAGGATCTTGGGGAAAGCACTGCGCTGAGGCTAGTCCCCAGCTCATCAAGGAAGTAGGACCCCATGAGCTACAAGAGCTCCCAGCTCACATACAAAGTTACCAGAGAAAGACACCTGTGTGGCCACACAGGTCCCTCAGGCTTATCATGACACAGCCCTATCAGGACATAAACAGCTAGA
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TTGAGCCCAAATTCAATAGCAGGCATTGCACTTCCTACTGTGGATAGAATAGTGACTTAGACTTGTGCTGTCCAATATAGCCATTAATTATTTATTTATACTTAAATTTTAATTAATTAGAATGAAATACATATGACTAAAAACCACTGAATTATATACTTTAAAAGGATGAATTTGATGGTATGTGGATACCTCAATTTTTAAAATTAAGTACAATTAAAAATTCAGTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCCTGTAGTCCTAGTTACTCGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACGGAGGTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAATATATATATATATATGTATATATATATATACACACACACATACACAGGCCGGGCGTAGTGGCTTACACCTGTAATCCCTGCACTTTGGGAGGCTGAGGCAGGTGGATCGCCTGAGGTCAGGAGATCGAGACCAGCCTAACCAAAATGATGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCGGAGCGTGGTGGCAGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTATACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCCAAACAAACAAAAAAAAAATACAGTTATTCAGTTGTACTAGCCACATTTCAAATGACCACCATATTAGACAGTAGAGATACAGAACATTTCCATCATCACAGGAAGTTCTGGCCAGGCACAGTGGCTCACACCTGTAACCCCAGCACTCTGGGAGGCCGAGGTGGGCTGATCAATGCCTGTAGTCCCAGCTACTCAGGCTGAGGCGGGAAGATCGCTTGAGCCAGGGAAGTCGAGGCTGTAGTGAGCCATGATCATGCCAGTGCACTCCAGCCTGGGCAACAGTAAAGGCCCTGTCTAAAAAAAATAGGGCTGGGCACGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCACATCACGAGGTCAGGATTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAATCTGGGAAGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATAGGGCCGGGCATGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGTGGCGGGCGGATCATGAAGTCAGGAGATGGAGACCATCCTGGCTACACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACAGTGGTGGGCGCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCACGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAATAGACGGTTTCTCCCTGTCCTCAAGCTCCACCCTTGCACTAGAGGGTGGTTCAAGAATGGAAAGCAGAGAGTGGAGAAGATGAAGTCCTTCTCTTTCTCTTTGCATACATAGAGCAAGCTATACCAGAGAATCAGATAGCAAGCCCTCCCTCAGAGGCCAAGGGAGCAGAAGAGCCATGGATGGGCCCCTTCCCAGGACAGCAGGGGTAGAAGTGGGAAAGGTGAGCATTTGTGACTATTCTATTACTCTGACCTCCCAGGACTGGACCTACAGAGACATCTGGGATTTTCTGTGTCAGCTGTTTGTCCCATACTGTATCCTGTATGACCGAGGGTAAGGGTATTAGGGGAAGGGAATGGGTAAGGGAGTTTTTAGGGTGCTGGGATAGGGAGGGCCAATAGGATCGCCCACCCTACCACATGCTTGCCCTCCACCCTCCCTGCTCCAGATACACATCACTGGGGAGTCGGGAGAATACCGTGCGGAACCCGGCCCTGAAGTGCCTGAGCCCAGGAGGACACCCCACATACCGTCCAGCCTATCTACTGGAGAACGAAGAAGAGGAGCGGAACTCCCGCACATGACCTCCCACCCTAGGAGGGAGGGAAGGACACCGTCCTAGGGTATAACCTGGCAATAAACCGTGCCTCTCACTGTGCCTGTTGCTCTAGCTGTGTCTTCCTGCTCCAGAGGATGGGAGAAGCAGAAGTGGGTCAAATGCTGCCAGCTCTGACTGGCTGTGCTCACTCTAAGGGGCCCAGGGGCAGGGCAGAACAGGCTGGAAAGGAGCTCTCACTGATGGTTCTCAATGTCAGCCTCAGCAGGAGCCCACCAGAGGGCGAAAGCAGGAGTTGTGCCAACCACTGGGAAAAGGGCAATCAGGCAGGGCACCACCTGGGCTGGAAGAGGGGAAGCTGCCTTGGCCTAGCTGTGGAGGATGAAAGATGGAGTGGCCAGGCCCTCCCTCCCACTAACCCCACCCTCCCATCCCTGTCTAGAGGGGCTGACTCAGCCTGTTCCCAGGCCTAGAACCTTCCCTTTGCTAGACCCTGGATCCTTTGTCTCTGTAGTCATGAGGCTGAAGGGGGTGGGGACAGTGTTGATAAAAGGCACTAGAGGCAGCTCCCACACCCTTCCTCGGAACTGTTGCCCACATGCAGCCCCGGACACAGCCCCTAGCCCAAACCCTACCCTTCTTCCTCGGAGGGGCCCCTCGAGACACTGGGCTGCGGGTGCCTGTCATTAAGATGGGCACAGGGTGGGAGGGCTTCCAGCGGACCCTGAAGGAAGTCGCCTACATCCTCCTCTGCTGCTGGTGTATCAAGGAACTGCTGGATTAATGGTAGCAGGGAACTGCCTCCTCTCCCCACCAGCACCATGGCTGGCATCGCTCAGGTGGGCAGGGTAGAGTAAACAGGAGGCATAGCTGCAGCTTCTGTGGCAGAGCTTGCCTTAGCTTCTCATTCTCTTCTTTAGCCCCCAGCCCAATTGCCATCAAGACTCCTGAAGCCAGCTGTGCTTGACCAAGGATGGGCCATAAACAATGAGTAAACAGTAAAGTGTGGATCCTGCTTTGAGCTGTGTCATCTAGCAGACCTGCCTCATCTCTGAGCCTCCTTCATTCCCAACCCCTGCCTCTGGTGGACCTCTGGTGGGCAGGAGCTTGGACTGCTCTGGCTAGGACCCCAGTAAGATTGTGGCAAGACCTGGCACTCCTCCAAGCTTGGCACAGTGAGCCCACCAGCTCAGATGGTTGATCTTACCATACCCTCATAGTACCAAGAATGGACTGCCCCCTAAGAAACCTGTTTGAGAATCACTGAATTATAAATATAATCCATAGGCCTTGAGGCCCAAGATTATAAGTGTCTAAAGGGGAATCAGAAAAAGTCAGCACTAGAACGGTCTGGGAGCAAGGGTGCAGACCAGGGAGGGAAGGAGCTTGTCCTGAATAGAACCAAGATTGAAAGCCAGGTTTTCTGACTCACTGGTTCCTGAGTGGGGAGGGTGGAAGACAGTTCAGGTTCCTCTCAATCTGTGGGTAAGGAGGGGACCCAGCTTGAGTAGGGTCTTCATCTGTGAGGCCAAGGGTGTGTGGAAACCCAGAGGACCCAGCCCTTTCCCAAATAGAAGACCTGGTCCAGGCAGCTTCCTGCCTCTGAGGATCTTGGGGAAAGCACTGCGCTGAGGCTAGTCCCCAGCTCATCAAGGAAGTAGGACCCCATGAGCTACAAGAGCTCCCAGCTCACATACAAAGTTACCAGAGAAAGACACCTGTGTGGCCACACAGGTCCCTCAGGCTTATCATGACACAGCCCTATCAGGACATAAACAGCTAGA
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Task1_train_1588
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Assess the clinical impact of this variant on gene FLAD1 (flavin adenine dinucleotide synthetase 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Myopathy with abnormal lipid metabolism
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TTGAGCCCAAATTCAATAGCAGGCATTGCACTTCCTACTGTGGATAGAATAGTGACTTAGACTTGTGCTGTCCAATATAGCCATTAATTATTTATTTATACTTAAATTTTAATTAATTAGAATGAAATACATATGACTAAAAACCACTGAATTATATACTTTAAAAGGATGAATTTGATGGTATGTGGATACCTCAATTTTTAAAATTAAGTACAATTAAAAATTCAGTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCCTGTAGTCCTAGTTACTCGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACGGAGGTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAATATATATATATATATGTATATATATATATACACACACACATACACAGGCCGGGCGTAGTGGCTTACACCTGTAATCCCTGCACTTTGGGAGGCTGAGGCAGGTGGATCGCCTGAGGTCAGGAGATCGAGACCAGCCTAACCAAAATGATGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCGGAGCGTGGTGGCAGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTATACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCCAAACAAACAAAAAAAAAATACAGTTATTCAGTTGTACTAGCCACATTTCAAATGACCACCATATTAGACAGTAGAGATACAGAACATTTCCATCATCACAGGAAGTTCTGGCCAGGCACAGTGGCTCACACCTGTAACCCCAGCACTCTGGGAGGCCGAGGTGGGCTGATCAATGCCTGTAGTCCCAGCTACTCAGGCTGAGGCGGGAAGATCGCTTGAGCCAGGGAAGTCGAGGCTGTAGTGAGCCATGATCATGCCAGTGCACTCCAGCCTGGGCAACAGTAAAGGCCCTGTCTAAAAAAAATAGGGCTGGGCACGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCACATCACGAGGTCAGGATTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAATCTGGGAAGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATAGGGCCGGGCATGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGTGGCGGGCGGATCATGAAGTCAGGAGATGGAGACCATCCTGGCTACACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACAGTGGTGGGCGCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCACGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAATAGACGGTTTCTCCCTGTCCTCAAGCTCCACCCTTGCACTAGAGGGTGGTTCAAGAATGGAAAGCAGAGAGTGGAGAAGATGAAGTCCTTCTCTTTCTCTTTGCATACATAGAGCAAGCTATACCAGAGAATCAGATAGCAAGCCCTCCCTCAGAGGCCAAGGGAGCAGAAGAGCCATGGATGGGCCCCTTCCCAGGACAGCAGGGGTAGAAGTGGGAAAGGTGAGCATTTGTGACTATTCTATTACTCTGACCTCCCAGGACTGGACCTACAGAGACATCTGGGATTTTCTGCGTCAGCTGTTTGTCCCATACTGTATCCTGTATGACCGAGGGTAAGGGTATTAGGGGAAGGGAATGGGTAAGGGAGTTTTTAGGGTGCTGGGATAGGGAGGGCCAATAGGATCGCCCACCCTACCACATGCTTGCCCTCCACCCTCCCTGCTCCAGATACACATCACTGGGGAGTCGGGAGAATACCGTGCGGAACCCGGCCCTGAAGTGCCTGAGCCCAGGAGGACACCCCACATACCGTCCAGCCTATCTACTGGAGAACGAAGAAGAGGAGCGGAACTCCCGCACATGACCTCCCACCCTAGGAGGGAGGGAAGGACACCGTCCTAGGGTATAACCTGGCAATAAACCGTGCCTCTCACTGTGCCTGTTGCTCTAGCTGTGTCTTCCTGCTCCAGAGGATGGGAGAAGCAGAAGTGGGTCAAATGCTGCCAGCTCTGACTGGCTGTGCTCACTCTAAGGGGCCCAGGGGCAGGGCAGAACAGGCTGGAAAGGAGCTCTCACTGATGGTTCTCAATGTCAGCCTCAGCAGGAGCCCACCAGAGGGCGAAAGCAGGAGTTGTGCCAACCACTGGGAAAAGGGCAATCAGGCAGGGCACCACCTGGGCTGGAAGAGGGGAAGCTGCCTTGGCCTAGCTGTGGAGGATGAAAGATGGAGTGGCCAGGCCCTCCCTCCCACTAACCCCACCCTCCCATCCCTGTCTAGAGGGGCTGACTCAGCCTGTTCCCAGGCCTAGAACCTTCCCTTTGCTAGACCCTGGATCCTTTGTCTCTGTAGTCATGAGGCTGAAGGGGGTGGGGACAGTGTTGATAAAAGGCACTAGAGGCAGCTCCCACACCCTTCCTCGGAACTGTTGCCCACATGCAGCCCCGGACACAGCCCCTAGCCCAAACCCTACCCTTCTTCCTCGGAGGGGCCCCTCGAGACACTGGGCTGCGGGTGCCTGTCATTAAGATGGGCACAGGGTGGGAGGGCTTCCAGCGGACCCTGAAGGAAGTCGCCTACATCCTCCTCTGCTGCTGGTGTATCAAGGAACTGCTGGATTAATGGTAGCAGGGAACTGCCTCCTCTCCCCACCAGCACCATGGCTGGCATCGCTCAGGTGGGCAGGGTAGAGTAAACAGGAGGCATAGCTGCAGCTTCTGTGGCAGAGCTTGCCTTAGCTTCTCATTCTCTTCTTTAGCCCCCAGCCCAATTGCCATCAAGACTCCTGAAGCCAGCTGTGCTTGACCAAGGATGGGCCATAAACAATGAGTAAACAGTAAAGTGTGGATCCTGCTTTGAGCTGTGTCATCTAGCAGACCTGCCTCATCTCTGAGCCTCCTTCATTCCCAACCCCTGCCTCTGGTGGACCTCTGGTGGGCAGGAGCTTGGACTGCTCTGGCTAGGACCCCAGTAAGATTGTGGCAAGACCTGGCACTCCTCCAAGCTTGGCACAGTGAGCCCACCAGCTCAGATGGTTGATCTTACCATACCCTCATAGTACCAAGAATGGACTGCCCCCTAAGAAACCTGTTTGAGAATCACTGAATTATAAATATAATCCATAGGCCTTGAGGCCCAAGATTATAAGTGTCTAAAGGGGAATCAGAAAAAGTCAGCACTAGAACGGTCTGGGAGCAAGGGTGCAGACCAGGGAGGGAAGGAGCTTGTCCTGAATAGAACCAAGATTGAAAGCCAGGTTTTCTGACTCACTGGTTCCTGAGTGGGGAGGGTGGAAGACAGTTCAGGTTCCTCTCAATCTGTGGGTAAGGAGGGGACCCAGCTTGAGTAGGGTCTTCATCTGTGAGGCCAAGGGTGTGTGGAAACCCAGAGGACCCAGCCCTTTCCCAAATAGAAGACCTGGTCCAGGCAGCTTCCTGCCTCTGAGGATCTTGGGGAAAGCACTGCGCTGAGGCTAGTCCCCAGCTCATCAAGGAAGTAGGACCCCATGAGCTACAAGAGCTCCCAGCTCACATACAAAGTTACCAGAGAAAGACACCTGTGTGGCCACACAGGTCCCTCAGGCTTATCATGACACAGCCCTATCAGGACATAAACAGCTAGA
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TTGAGCCCAAATTCAATAGCAGGCATTGCACTTCCTACTGTGGATAGAATAGTGACTTAGACTTGTGCTGTCCAATATAGCCATTAATTATTTATTTATACTTAAATTTTAATTAATTAGAATGAAATACATATGACTAAAAACCACTGAATTATATACTTTAAAAGGATGAATTTGATGGTATGTGGATACCTCAATTTTTAAAATTAAGTACAATTAAAAATTCAGTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCCTGTAGTCCTAGTTACTCGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGACGGAGGTTGCAGTGAGCTGAGATGGCACCACTGTACTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAATATATATATATATATGTATATATATATATACACACACACATACACAGGCCGGGCGTAGTGGCTTACACCTGTAATCCCTGCACTTTGGGAGGCTGAGGCAGGTGGATCGCCTGAGGTCAGGAGATCGAGACCAGCCTAACCAAAATGATGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCGGAGCGTGGTGGCAGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACTATACTCCAGCCTGAGCAACAGAGTGAGACTCCGTCCAAACAAACAAAAAAAAAATACAGTTATTCAGTTGTACTAGCCACATTTCAAATGACCACCATATTAGACAGTAGAGATACAGAACATTTCCATCATCACAGGAAGTTCTGGCCAGGCACAGTGGCTCACACCTGTAACCCCAGCACTCTGGGAGGCCGAGGTGGGCTGATCAATGCCTGTAGTCCCAGCTACTCAGGCTGAGGCGGGAAGATCGCTTGAGCCAGGGAAGTCGAGGCTGTAGTGAGCCATGATCATGCCAGTGCACTCCAGCCTGGGCAACAGTAAAGGCCCTGTCTAAAAAAAATAGGGCTGGGCACGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCACATCACGAGGTCAGGATTTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAAAATACAAAAATTAGCCGGCTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAATCTGGGAAGCGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAATAGGGCCGGGCATGGTGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGTGGCGGGCGGATCATGAAGTCAGGAGATGGAGACCATCCTGGCTACACAGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCACAGTGGTGGGCGCCTGTAGTGCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGACCACGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAAAAAAATAGACGGTTTCTCCCTGTCCTCAAGCTCCACCCTTGCACTAGAGGGTGGTTCAAGAATGGAAAGCAGAGAGTGGAGAAGATGAAGTCCTTCTCTTTCTCTTTGCATACATAGAGCAAGCTATACCAGAGAATCAGATAGCAAGCCCTCCCTCAGAGGCCAAGGGAGCAGAAGAGCCATGGATGGGCCCCTTCCCAGGACAGCAGGGGTAGAAGTGGGAAAGGTGAGCATTTGTGACTATTCTATTACTCTGACCTCCCAGGACTGGACCTACAGAGACATCTGGGATTTTCTGTGTCAGCTGTTTGTCCCATACTGTATCCTGTATGACCGAGGGTAAGGGTATTAGGGGAAGGGAATGGGTAAGGGAGTTTTTAGGGTGCTGGGATAGGGAGGGCCAATAGGATCGCCCACCCTACCACATGCTTGCCCTCCACCCTCCCTGCTCCAGATACACATCACTGGGGAGTCGGGAGAATACCGTGCGGAACCCGGCCCTGAAGTGCCTGAGCCCAGGAGGACACCCCACATACCGTCCAGCCTATCTACTGGAGAACGAAGAAGAGGAGCGGAACTCCCGCACATGACCTCCCACCCTAGGAGGGAGGGAAGGACACCGTCCTAGGGTATAACCTGGCAATAAACCGTGCCTCTCACTGTGCCTGTTGCTCTAGCTGTGTCTTCCTGCTCCAGAGGATGGGAGAAGCAGAAGTGGGTCAAATGCTGCCAGCTCTGACTGGCTGTGCTCACTCTAAGGGGCCCAGGGGCAGGGCAGAACAGGCTGGAAAGGAGCTCTCACTGATGGTTCTCAATGTCAGCCTCAGCAGGAGCCCACCAGAGGGCGAAAGCAGGAGTTGTGCCAACCACTGGGAAAAGGGCAATCAGGCAGGGCACCACCTGGGCTGGAAGAGGGGAAGCTGCCTTGGCCTAGCTGTGGAGGATGAAAGATGGAGTGGCCAGGCCCTCCCTCCCACTAACCCCACCCTCCCATCCCTGTCTAGAGGGGCTGACTCAGCCTGTTCCCAGGCCTAGAACCTTCCCTTTGCTAGACCCTGGATCCTTTGTCTCTGTAGTCATGAGGCTGAAGGGGGTGGGGACAGTGTTGATAAAAGGCACTAGAGGCAGCTCCCACACCCTTCCTCGGAACTGTTGCCCACATGCAGCCCCGGACACAGCCCCTAGCCCAAACCCTACCCTTCTTCCTCGGAGGGGCCCCTCGAGACACTGGGCTGCGGGTGCCTGTCATTAAGATGGGCACAGGGTGGGAGGGCTTCCAGCGGACCCTGAAGGAAGTCGCCTACATCCTCCTCTGCTGCTGGTGTATCAAGGAACTGCTGGATTAATGGTAGCAGGGAACTGCCTCCTCTCCCCACCAGCACCATGGCTGGCATCGCTCAGGTGGGCAGGGTAGAGTAAACAGGAGGCATAGCTGCAGCTTCTGTGGCAGAGCTTGCCTTAGCTTCTCATTCTCTTCTTTAGCCCCCAGCCCAATTGCCATCAAGACTCCTGAAGCCAGCTGTGCTTGACCAAGGATGGGCCATAAACAATGAGTAAACAGTAAAGTGTGGATCCTGCTTTGAGCTGTGTCATCTAGCAGACCTGCCTCATCTCTGAGCCTCCTTCATTCCCAACCCCTGCCTCTGGTGGACCTCTGGTGGGCAGGAGCTTGGACTGCTCTGGCTAGGACCCCAGTAAGATTGTGGCAAGACCTGGCACTCCTCCAAGCTTGGCACAGTGAGCCCACCAGCTCAGATGGTTGATCTTACCATACCCTCATAGTACCAAGAATGGACTGCCCCCTAAGAAACCTGTTTGAGAATCACTGAATTATAAATATAATCCATAGGCCTTGAGGCCCAAGATTATAAGTGTCTAAAGGGGAATCAGAAAAAGTCAGCACTAGAACGGTCTGGGAGCAAGGGTGCAGACCAGGGAGGGAAGGAGCTTGTCCTGAATAGAACCAAGATTGAAAGCCAGGTTTTCTGACTCACTGGTTCCTGAGTGGGGAGGGTGGAAGACAGTTCAGGTTCCTCTCAATCTGTGGGTAAGGAGGGGACCCAGCTTGAGTAGGGTCTTCATCTGTGAGGCCAAGGGTGTGTGGAAACCCAGAGGACCCAGCCCTTTCCCAAATAGAAGACCTGGTCCAGGCAGCTTCCTGCCTCTGAGGATCTTGGGGAAAGCACTGCGCTGAGGCTAGTCCCCAGCTCATCAAGGAAGTAGGACCCCATGAGCTACAAGAGCTCCCAGCTCACATACAAAGTTACCAGAGAAAGACACCTGTGTGGCCACACAGGTCCCTCAGGCTTATCATGACACAGCCCTATCAGGACATAAACAGCTAGA
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Task1_train_1589
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Consider this mutation in DPM3 (dolichyl-phosphate mannosyltransferase subunit 3, regulatory) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; DPM3-congenital disorder of glycosylation
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ATGTGCTTGGGCCAAGAGAGTCTTCCATTCTTTCCCACAGGCTAAGGTGATTCAAACTAAATCAACCCAATGTCTCTCCTACCCACTCACCATTGCTACCCTTCTCACCTCTGCCTCCTGGTGCCTCTATGGGTTTCGACTCAGAGATCCCTATATCATGGTAAGCACAACTGGGATGGGGTGACAGGGGTGCAAGATGGAAAACTGGCTCCTCTCCTCATAGCAGTTCTTGTGATTTCAGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGTACCCCCAGGAGCAAGACAGGAACTACTGGCTCCTGCAAACCTGAGGCTGCTCATCTGACCACTGGGCACCTTAGTGCCAACCTGAACCAAAGAGACCTCCTTGTTTCAGCTGGGCCTGCTGTCCAGCTTCCCAGGTGCAGTGGGTTGTGGGAACAAGAGATGACTTTGAGGATAAAAGGACCAAAGAAAAAGCTTTACTTAGATGATTGATTGGGGCCTAGGAGATGAAATCACTTTTTATTTTTTAGAGATTTTTTTTTTTAATTTTGGAGGTTGGGGTGCAATCTTTAGAATATGCCTTAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCAACCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGATGGCACATGCCTGTAATCCCAGATACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGTGATATGAATATGCCTTATATGCTGATATGAATATGCCTTAAAATAAAGTGTTCCCCACCCCTGCCCACGATGGTTCATTCTCTACTCATAATTCTAAACCTGCCTGGTTTGGTGAAGGATAGATCCACAGTTATTCTCAGGTTGGTAGGGTAGGCTCAGAAAAGGTATCTCAAAGAACCAAAAGGTTGGAAAGACCCAGGAAGGCCTTAAAAATAACAAAACTTGGATGTTATGAAGAATGGAACTTAGGCTTCAAGAAAGTACTTCTGGCCGGGTAAGGTGGCTTATGTCTGTAATCACAGCACTTTGGGAGGCCCAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGAACAGCCTGAGCAACACAGCGAGACCCTGTCACTACAAAAAATTAAACATTAGCCTGGTGGCGTGGTGGCATATGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGAACTGTTTGAGCCTGGGAGGGTGAGGCTGCAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAGTAGTACGCCGGGCGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACGAGGTCAGGAGATCAGACCATCCTGGCCAACACGGTGAAACCCCGACTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCAAGGCTCCGTCTCAAAAAAAAAAAAAAAGAAGTACTTCCTACAGGGTTGAAAGGACCAGGAAAGTGAAATGTCATTTCCATCCTGAGAAATATTGAGAAGGGGTCTTTGCCTCCTTGGGAGCAAAAATGGGAACACCAGCAAGATGCAAAGATAAAGGCTGAGATGGCCTCAAGAAGGTGGTTCTTTCACATTCACTTCTCGACCGTTAGTACATAGAATCCCCAATACCCGTTTTCCATACTCAAACTAAACGAAGTTAGAAAATAAACTGGCTCTTTAATGGGAAATGGGAGGAAGGGCTGTCCGCACAGGAATGGGGTTAGGCTGTCAGAAGCGCAGCCCCCTGCGGGCTAAGTCGGCTCGGGCCTCCTGTATCTGGCTCTGCAGCTCGCGTGCGGCGTCCTCGCAGTCATGAAAAGTGGCCACACGATAGCCCACAGTGCCCAGGGCATAGCAGCCGGCGGACACCAGCAAGTAGGCGGGCAGTGGCCACAGGACTTCCTGGCAGGACAAGGGCAGCTCCAGGCCCAAGGCTCCCGTGGTCAGGGCCACCCAGGTGGAGCCCAGGATCGCTAGTCCCCAAAGCCACTGCGCTAATTTCGTCATGGTCACTGCGAGAGAAGGAAGCAATGCTCCCCTGAGGAGCAGAAAGGAAAAGCGGACCAAACTCAACCGAAGCCCGCCCACGGAGAGCATTAAAACCAGCCCTGGCCAGAGGGGAATCGCCGATCCCAGAGGTCCGAACTTGAGTGCCCACAAAAGGTGGAAGGGCCCCTTCCACCTTGCTACCCCCTCTATATTTGAGACCCACTCCCCATCTCTCGCCCTCCCCATTCAGCCTTCAACCTACACTTACCTCTACCCCACGTCTCCCCTTCCCCGCGCGGCCCGGATGTTGGCGTCCGGAAGTCCTCCCTGGTTCACGTTCCGCTTCCGCGCGGCCTTCTGGGAGTTGTAGTTCACATGGCGGCGCCTGGTGTACTCCTGGCCAGCGCCTCAATCTAGGCGGGGGTACAGTGGGCTGTGCTCCGCAAACGGGGAGCAGGCCGGGTCTGGAGAGGCCTCGGCGCTGCTTTCCCACCTTGGGCTACGCTCCAGGCTGGCGTGGGGCTTGAGGACATCCTTAAATGTTGCAACAAGATGGGAATATAATACCATTCCCCTTAAACTCAATTCTCCAGCGCTGAAATCCATTCCTTCATTCACTAGTTCATTCATTCGAAGATTTCTTTCTTTCCATTCTTGACAGGGTCTCTCTATAGTGCCTAGGCGGGACAGAACTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGCTCTGTTGCCCATGCTGGAGTACAGTGGCTCGATCTCAGCTCACTGCAACCTCTGTCTCCCGAGCAGCTGGGATTACAGGCGCGCGCCACCACGCCGGGCTAATTTTTTTATTTTTAGCAGAGAACGGGGATTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGACTGGCCCACCTCAGCCTTCCAAAGTGCTAGGATTACAGGCATGAGCCACAGCGCCCGGCCAGAACATTTCTTGATTACCATGATAGACTTTGGAGATACAGAGATGTCAAGAGACTCGACCCCTTTCAGGTGGAGGGGGAAAGCAGGAGTCAGTGAAGCAGTTGCATTGACAACTAACCATGAAGGCTTGAGATTATTGTTAGAACAGAGGTAGTCATATTTTTACAAGGACAACAACCAATATAACTTGGAGCCAGAGGAAGAAGGGCTCCAGGAGTCTGGGTTTCAAAAAAAAAGAAAAGAAAAGAAAGACCAGAAGAATTACCTGAAGTGGTGAAGGCATTGAAAGAAAGAGTATAATTCTTTAGAACAGTTTTGGGGATGAATTTATTATGTATAGAGAGAAAGAGAGAGAGAGAACAAAGTAAGAGAAAAGGTTAGGCAATTATCAACTTCAGAGGAAACAAAGAGTTATATAAGAAAGGAAAGACAATTGATAAGCCTGTCTTATAAAGACCACATCTGTAGTTTGACAGTTAGGTTTATTAACTTGCCACAACAGAGAGATCACACACTAGAAGAACTGTGGGGCAACTCATTAAAAAGGAAGAAATATGGTCATTCAGATGATATGGTTTGGCTGTGTCCCCACCCAAATTTCAAGTTGATGTGTATCTCCCAGAATTCCCACGTGCGAGGGACCTAAGGGGAGGTAATTGAATCACGGGGGCCAGACTTTCCCGTGCTATTTTCATGATAGTGAATAAGTCTCACAAGATCTGATGAGTTCATCAGGGGTTTCTGCTTTTGCTTCTTCCTCATTTTTCTCTTGCCACCGCCATGTAAGAAGTGCCTTTGTCTCCCGCCATGATTCTGAGGCCTCCCCAGCAAT
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ATGTGCTTGGGCCAAGAGAGTCTTCCATTCTTTCCCACAGGCTAAGGTGATTCAAACTAAATCAACCCAATGTCTCTCCTACCCACTCACCATTGCTACCCTTCTCACCTCTGCCTCCTGGTGCCTCTATGGGTTTCGACTCAGAGATCCCTATATCATGGTAAGCACAACTGGGATGGGGTGACAGGGGTGCAAGATGGAAAACTGGCTCCTCTCCTCATAGCAGTTCTTGTGATTTCAGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGTACCCCCAGGAGCAAGACAGGAACTACTGGCTCCTGCAAACCTGAGGCTGCTCATCTGACCACTGGGCACCTTAGTGCCAACCTGAACCAAAGAGACCTCCTTGTTTCAGCTGGGCCTGCTGTCCAGCTTCCCAGGTGCAGTGGGTTGTGGGAACAAGAGATGACTTTGAGGATAAAAGGACCAAAGAAAAAGCTTTACTTAGATGATTGATTGGGGCCTAGGAGATGAAATCACTTTTTATTTTTTAGAGATTTTTTTTTTTAATTTTGGAGGTTGGGGTGCAATCTTTAGAATATGCCTTAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCAACCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGATGGCACATGCCTGTAATCCCAGATACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGTGATATGAATATGCCTTATATGCTGATATGAATATGCCTTAAAATAAAGTGTTCCCCACCCCTGCCCACGATGGTTCATTCTCTACTCATAATTCTAAACCTGCCTGGTTTGGTGAAGGATAGATCCACAGTTATTCTCAGGTTGGTAGGGTAGGCTCAGAAAAGGTATCTCAAAGAACCAAAAGGTTGGAAAGACCCAGGAAGGCCTTAAAAATAACAAAACTTGGATGTTATGAAGAATGGAACTTAGGCTTCAAGAAAGTACTTCTGGCCGGGTAAGGTGGCTTATGTCTGTAATCACAGCACTTTGGGAGGCCCAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGAACAGCCTGAGCAACACAGCGAGACCCTGTCACTACAAAAAATTAAACATTAGCCTGGTGGCGTGGTGGCATATGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGAACTGTTTGAGCCTGGGAGGGTGAGGCTGCAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAGTAGTACGCCGGGCGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACGAGGTCAGGAGATCAGACCATCCTGGCCAACACGGTGAAACCCCGACTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCAAGGCTCCGTCTCAAAAAAAAAAAAAAAGAAGTACTTCCTACAGGGTTGAAAGGACCAGGAAAGTGAAATGTCATTTCCATCCTGAGAAATATTGAGAAGGGGTCTTTGCCTCCTTGGGAGCAAAAATGGGAACACCAGCAAGATGCAAAGATAAAGGCTGAGATGGCCTCAAGAAGGTGGTTCTTTCACATTCACTTCTCGACCGTTAGTACATAGAATCCCCAATACCCGTTTTCCATACTCAAACTAAACGAAGTTAGAAAATAAACTGGCTCTTTAATGGGAAATGGGAGGAAGGGCTGTCCGCACAGGAATGGGGTTAGGCTGTCAGAAGCGCAGCCCCCTGCGGGCTGAGTCGGCTCGGGCCTCCTGTATCTGGCTCTGCAGCTCGCGTGCGGCGTCCTCGCAGTCATGAAAAGTGGCCACACGATAGCCCACAGTGCCCAGGGCATAGCAGCCGGCGGACACCAGCAAGTAGGCGGGCAGTGGCCACAGGACTTCCTGGCAGGACAAGGGCAGCTCCAGGCCCAAGGCTCCCGTGGTCAGGGCCACCCAGGTGGAGCCCAGGATCGCTAGTCCCCAAAGCCACTGCGCTAATTTCGTCATGGTCACTGCGAGAGAAGGAAGCAATGCTCCCCTGAGGAGCAGAAAGGAAAAGCGGACCAAACTCAACCGAAGCCCGCCCACGGAGAGCATTAAAACCAGCCCTGGCCAGAGGGGAATCGCCGATCCCAGAGGTCCGAACTTGAGTGCCCACAAAAGGTGGAAGGGCCCCTTCCACCTTGCTACCCCCTCTATATTTGAGACCCACTCCCCATCTCTCGCCCTCCCCATTCAGCCTTCAACCTACACTTACCTCTACCCCACGTCTCCCCTTCCCCGCGCGGCCCGGATGTTGGCGTCCGGAAGTCCTCCCTGGTTCACGTTCCGCTTCCGCGCGGCCTTCTGGGAGTTGTAGTTCACATGGCGGCGCCTGGTGTACTCCTGGCCAGCGCCTCAATCTAGGCGGGGGTACAGTGGGCTGTGCTCCGCAAACGGGGAGCAGGCCGGGTCTGGAGAGGCCTCGGCGCTGCTTTCCCACCTTGGGCTACGCTCCAGGCTGGCGTGGGGCTTGAGGACATCCTTAAATGTTGCAACAAGATGGGAATATAATACCATTCCCCTTAAACTCAATTCTCCAGCGCTGAAATCCATTCCTTCATTCACTAGTTCATTCATTCGAAGATTTCTTTCTTTCCATTCTTGACAGGGTCTCTCTATAGTGCCTAGGCGGGACAGAACTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGCTCTGTTGCCCATGCTGGAGTACAGTGGCTCGATCTCAGCTCACTGCAACCTCTGTCTCCCGAGCAGCTGGGATTACAGGCGCGCGCCACCACGCCGGGCTAATTTTTTTATTTTTAGCAGAGAACGGGGATTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGACTGGCCCACCTCAGCCTTCCAAAGTGCTAGGATTACAGGCATGAGCCACAGCGCCCGGCCAGAACATTTCTTGATTACCATGATAGACTTTGGAGATACAGAGATGTCAAGAGACTCGACCCCTTTCAGGTGGAGGGGGAAAGCAGGAGTCAGTGAAGCAGTTGCATTGACAACTAACCATGAAGGCTTGAGATTATTGTTAGAACAGAGGTAGTCATATTTTTACAAGGACAACAACCAATATAACTTGGAGCCAGAGGAAGAAGGGCTCCAGGAGTCTGGGTTTCAAAAAAAAAGAAAAGAAAAGAAAGACCAGAAGAATTACCTGAAGTGGTGAAGGCATTGAAAGAAAGAGTATAATTCTTTAGAACAGTTTTGGGGATGAATTTATTATGTATAGAGAGAAAGAGAGAGAGAGAACAAAGTAAGAGAAAAGGTTAGGCAATTATCAACTTCAGAGGAAACAAAGAGTTATATAAGAAAGGAAAGACAATTGATAAGCCTGTCTTATAAAGACCACATCTGTAGTTTGACAGTTAGGTTTATTAACTTGCCACAACAGAGAGATCACACACTAGAAGAACTGTGGGGCAACTCATTAAAAAGGAAGAAATATGGTCATTCAGATGATATGGTTTGGCTGTGTCCCCACCCAAATTTCAAGTTGATGTGTATCTCCCAGAATTCCCACGTGCGAGGGACCTAAGGGGAGGTAATTGAATCACGGGGGCCAGACTTTCCCGTGCTATTTTCATGATAGTGAATAAGTCTCACAAGATCTGATGAGTTCATCAGGGGTTTCTGCTTTTGCTTCTTCCTCATTTTTCTCTTGCCACCGCCATGTAAGAAGTGCCTTTGTCTCCCGCCATGATTCTGAGGCCTCCCCAGCAAT
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Task1_train_1590
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Chromosome 1 houses a mutation in gene DPM3 (dolichyl-phosphate mannosyltransferase subunit 3, regulatory). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; DPM3-congenital disorder of glycosylation
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CTCCTCATAGCAGTTCTTGTGATTTCAGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGTACCCCCAGGAGCAAGACAGGAACTACTGGCTCCTGCAAACCTGAGGCTGCTCATCTGACCACTGGGCACCTTAGTGCCAACCTGAACCAAAGAGACCTCCTTGTTTCAGCTGGGCCTGCTGTCCAGCTTCCCAGGTGCAGTGGGTTGTGGGAACAAGAGATGACTTTGAGGATAAAAGGACCAAAGAAAAAGCTTTACTTAGATGATTGATTGGGGCCTAGGAGATGAAATCACTTTTTATTTTTTAGAGATTTTTTTTTTTAATTTTGGAGGTTGGGGTGCAATCTTTAGAATATGCCTTAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCAACCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGATGGCACATGCCTGTAATCCCAGATACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGTGATATGAATATGCCTTATATGCTGATATGAATATGCCTTAAAATAAAGTGTTCCCCACCCCTGCCCACGATGGTTCATTCTCTACTCATAATTCTAAACCTGCCTGGTTTGGTGAAGGATAGATCCACAGTTATTCTCAGGTTGGTAGGGTAGGCTCAGAAAAGGTATCTCAAAGAACCAAAAGGTTGGAAAGACCCAGGAAGGCCTTAAAAATAACAAAACTTGGATGTTATGAAGAATGGAACTTAGGCTTCAAGAAAGTACTTCTGGCCGGGTAAGGTGGCTTATGTCTGTAATCACAGCACTTTGGGAGGCCCAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGAACAGCCTGAGCAACACAGCGAGACCCTGTCACTACAAAAAATTAAACATTAGCCTGGTGGCGTGGTGGCATATGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGAACTGTTTGAGCCTGGGAGGGTGAGGCTGCAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAGTAGTACGCCGGGCGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACGAGGTCAGGAGATCAGACCATCCTGGCCAACACGGTGAAACCCCGACTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCAAGGCTCCGTCTCAAAAAAAAAAAAAAAGAAGTACTTCCTACAGGGTTGAAAGGACCAGGAAAGTGAAATGTCATTTCCATCCTGAGAAATATTGAGAAGGGGTCTTTGCCTCCTTGGGAGCAAAAATGGGAACACCAGCAAGATGCAAAGATAAAGGCTGAGATGGCCTCAAGAAGGTGGTTCTTTCACATTCACTTCTCGACCGTTAGTACATAGAATCCCCAATACCCGTTTTCCATACTCAAACTAAACGAAGTTAGAAAATAAACTGGCTCTTTAATGGGAAATGGGAGGAAGGGCTGTCCGCACAGGAATGGGGTTAGGCTGTCAGAAGCGCAGCCCCCTGCGGGCTAAGTCGGCTCGGGCCTCCTGTATCTGGCTCTGCAGCTCGCGTGCGGCGTCCTCGCAGTCATGAAAAGTGGCCACACGATAGCCCACAGTGCCCAGGGCATAGCAGCCGGCGGACACCAGCAAGTAGGCGGGCAGTGGCCACAGGACTTCCTGGCAGGACAAGGGCAGCTCCAGGCCCAAGGCTCCCGTGGTCAGGGCCACCCAGGTGGAGCCCAGGATCGCTAGTCCCCAAAGCCACTGCGCTAATTTCGTCATGGTCACTGCGAGAGAAGGAAGCAATGCTCCCCTGAGGAGCAGAAAGGAAAAGCGGACCAAACTCAACCGAAGCCCGCCCACGGAGAGCATTAAAACCAGCCCTGGCCAGAGGGGAATCGCCGATCCCAGAGGTCCGAACTTGAGTGCCCACAAAAGGTGGAAGGGCCCCTTCCACCTTGCTACCCCCTCTATATTTGAGACCCACTCCCCATCTCTCGCCCTCCCCATTCAGCCTTCAACCTACACTTACCTCTACCCCACGTCTCCCCTTCCCCGCGCGGCCCGGATGTTGGCGTCCGGAAGTCCTCCCTGGTTCACGTTCCGCTTCCGCGCGGCCTTCTGGGAGTTGTAGTTCACATGGCGGCGCCTGGTGTACTCCTGGCCAGCGCCTCAATCTAGGCGGGGGTACAGTGGGCTGTGCTCCGCAAACGGGGAGCAGGCCGGGTCTGGAGAGGCCTCGGCGCTGCTTTCCCACCTTGGGCTACGCTCCAGGCTGGCGTGGGGCTTGAGGACATCCTTAAATGTTGCAACAAGATGGGAATATAATACCATTCCCCTTAAACTCAATTCTCCAGCGCTGAAATCCATTCCTTCATTCACTAGTTCATTCATTCGAAGATTTCTTTCTTTCCATTCTTGACAGGGTCTCTCTATAGTGCCTAGGCGGGACAGAACTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGCTCTGTTGCCCATGCTGGAGTACAGTGGCTCGATCTCAGCTCACTGCAACCTCTGTCTCCCGAGCAGCTGGGATTACAGGCGCGCGCCACCACGCCGGGCTAATTTTTTTATTTTTAGCAGAGAACGGGGATTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGACTGGCCCACCTCAGCCTTCCAAAGTGCTAGGATTACAGGCATGAGCCACAGCGCCCGGCCAGAACATTTCTTGATTACCATGATAGACTTTGGAGATACAGAGATGTCAAGAGACTCGACCCCTTTCAGGTGGAGGGGGAAAGCAGGAGTCAGTGAAGCAGTTGCATTGACAACTAACCATGAAGGCTTGAGATTATTGTTAGAACAGAGGTAGTCATATTTTTACAAGGACAACAACCAATATAACTTGGAGCCAGAGGAAGAAGGGCTCCAGGAGTCTGGGTTTCAAAAAAAAAGAAAAGAAAAGAAAGACCAGAAGAATTACCTGAAGTGGTGAAGGCATTGAAAGAAAGAGTATAATTCTTTAGAACAGTTTTGGGGATGAATTTATTATGTATAGAGAGAAAGAGAGAGAGAGAACAAAGTAAGAGAAAAGGTTAGGCAATTATCAACTTCAGAGGAAACAAAGAGTTATATAAGAAAGGAAAGACAATTGATAAGCCTGTCTTATAAAGACCACATCTGTAGTTTGACAGTTAGGTTTATTAACTTGCCACAACAGAGAGATCACACACTAGAAGAACTGTGGGGCAACTCATTAAAAAGGAAGAAATATGGTCATTCAGATGATATGGTTTGGCTGTGTCCCCACCCAAATTTCAAGTTGATGTGTATCTCCCAGAATTCCCACGTGCGAGGGACCTAAGGGGAGGTAATTGAATCACGGGGGCCAGACTTTCCCGTGCTATTTTCATGATAGTGAATAAGTCTCACAAGATCTGATGAGTTCATCAGGGGTTTCTGCTTTTGCTTCTTCCTCATTTTTCTCTTGCCACCGCCATGTAAGAAGTGCCTTTGTCTCCCGCCATGATTCTGAGGCCTCCCCAGCAATGTGGAACTGTAAGTCCAATTAAACCTCTTTTTGTTTGCAGTTTCGGGTATGTCTTTATCAGTAATGTGAAAATGAACTAATACAACAGGATATGGGAAAGGCTTGACTTTAAAATTTATATTTTAAAATTTATTTACTTATTTATTTAGAGTTGAAGTCTCGGTATGTTGCCCAGGCGAAGCTCAAACTTCTGGGCTCAAGTGATCCTCCTGC
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CTCCTCATAGCAGTTCTTGTGATTTCAGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGTACCCCCAGGAGCAAGACAGGAACTACTGGCTCCTGCAAACCTGAGGCTGCTCATCTGACCACTGGGCACCTTAGTGCCAACCTGAACCAAAGAGACCTCCTTGTTTCAGCTGGGCCTGCTGTCCAGCTTCCCAGGTGCAGTGGGTTGTGGGAACAAGAGATGACTTTGAGGATAAAAGGACCAAAGAAAAAGCTTTACTTAGATGATTGATTGGGGCCTAGGAGATGAAATCACTTTTTATTTTTTAGAGATTTTTTTTTTTAATTTTGGAGGTTGGGGTGCAATCTTTAGAATATGCCTTAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCGCCTGAGGTCAGGAGTTCAAGACCAACCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGATGGCACATGCCTGTAATCCCAGATACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGTGATATGAATATGCCTTATATGCTGATATGAATATGCCTTAAAATAAAGTGTTCCCCACCCCTGCCCACGATGGTTCATTCTCTACTCATAATTCTAAACCTGCCTGGTTTGGTGAAGGATAGATCCACAGTTATTCTCAGGTTGGTAGGGTAGGCTCAGAAAAGGTATCTCAAAGAACCAAAAGGTTGGAAAGACCCAGGAAGGCCTTAAAAATAACAAAACTTGGATGTTATGAAGAATGGAACTTAGGCTTCAAGAAAGTACTTCTGGCCGGGTAAGGTGGCTTATGTCTGTAATCACAGCACTTTGGGAGGCCCAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGAACAGCCTGAGCAACACAGCGAGACCCTGTCACTACAAAAAATTAAACATTAGCCTGGTGGCGTGGTGGCATATGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGAACTGTTTGAGCCTGGGAGGGTGAGGCTGCAGTGAGCCATGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGAAGTAGTACGCCGGGCGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATTACGAGGTCAGGAGATCAGACCATCCTGGCCAACACGGTGAAACCCCGACTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCAAGGCTCCGTCTCAAAAAAAAAAAAAAAGAAGTACTTCCTACAGGGTTGAAAGGACCAGGAAAGTGAAATGTCATTTCCATCCTGAGAAATATTGAGAAGGGGTCTTTGCCTCCTTGGGAGCAAAAATGGGAACACCAGCAAGATGCAAAGATAAAGGCTGAGATGGCCTCAAGAAGGTGGTTCTTTCACATTCACTTCTCGACCGTTAGTACATAGAATCCCCAATACCCGTTTTCCATACTCAAACTAAACGAAGTTAGAAAATAAACTGGCTCTTTAATGGGAAATGGGAGGAAGGGCTGTCCGCACAGGAATGGGGTTAGGCTGTCAGAAGCGCAGCCCCCTGCGGGCTAAGTCGGCTCGGGCCTCCTGTATCTGGCTCTGCAGCTCGCGTGCGGCGTCCTCGCAGTCATGAAAAGTGGCCACACGATAGCCCACAGTGCCCAGGGCATAGCAGCCGGCGGACACCAGCAAGTAGGCGGGCAGTGGCCACAGGACTTCCTGGCAGGACAAGGGCAGCTCCAGGCCCAAGGCTCCCGTGGTCAGGGCCACCCAGGTGGAGCCCGGGATCGCTAGTCCCCAAAGCCACTGCGCTAATTTCGTCATGGTCACTGCGAGAGAAGGAAGCAATGCTCCCCTGAGGAGCAGAAAGGAAAAGCGGACCAAACTCAACCGAAGCCCGCCCACGGAGAGCATTAAAACCAGCCCTGGCCAGAGGGGAATCGCCGATCCCAGAGGTCCGAACTTGAGTGCCCACAAAAGGTGGAAGGGCCCCTTCCACCTTGCTACCCCCTCTATATTTGAGACCCACTCCCCATCTCTCGCCCTCCCCATTCAGCCTTCAACCTACACTTACCTCTACCCCACGTCTCCCCTTCCCCGCGCGGCCCGGATGTTGGCGTCCGGAAGTCCTCCCTGGTTCACGTTCCGCTTCCGCGCGGCCTTCTGGGAGTTGTAGTTCACATGGCGGCGCCTGGTGTACTCCTGGCCAGCGCCTCAATCTAGGCGGGGGTACAGTGGGCTGTGCTCCGCAAACGGGGAGCAGGCCGGGTCTGGAGAGGCCTCGGCGCTGCTTTCCCACCTTGGGCTACGCTCCAGGCTGGCGTGGGGCTTGAGGACATCCTTAAATGTTGCAACAAGATGGGAATATAATACCATTCCCCTTAAACTCAATTCTCCAGCGCTGAAATCCATTCCTTCATTCACTAGTTCATTCATTCGAAGATTTCTTTCTTTCCATTCTTGACAGGGTCTCTCTATAGTGCCTAGGCGGGACAGAACTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGCTCTGTTGCCCATGCTGGAGTACAGTGGCTCGATCTCAGCTCACTGCAACCTCTGTCTCCCGAGCAGCTGGGATTACAGGCGCGCGCCACCACGCCGGGCTAATTTTTTTATTTTTAGCAGAGAACGGGGATTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGACTGGCCCACCTCAGCCTTCCAAAGTGCTAGGATTACAGGCATGAGCCACAGCGCCCGGCCAGAACATTTCTTGATTACCATGATAGACTTTGGAGATACAGAGATGTCAAGAGACTCGACCCCTTTCAGGTGGAGGGGGAAAGCAGGAGTCAGTGAAGCAGTTGCATTGACAACTAACCATGAAGGCTTGAGATTATTGTTAGAACAGAGGTAGTCATATTTTTACAAGGACAACAACCAATATAACTTGGAGCCAGAGGAAGAAGGGCTCCAGGAGTCTGGGTTTCAAAAAAAAAGAAAAGAAAAGAAAGACCAGAAGAATTACCTGAAGTGGTGAAGGCATTGAAAGAAAGAGTATAATTCTTTAGAACAGTTTTGGGGATGAATTTATTATGTATAGAGAGAAAGAGAGAGAGAGAACAAAGTAAGAGAAAAGGTTAGGCAATTATCAACTTCAGAGGAAACAAAGAGTTATATAAGAAAGGAAAGACAATTGATAAGCCTGTCTTATAAAGACCACATCTGTAGTTTGACAGTTAGGTTTATTAACTTGCCACAACAGAGAGATCACACACTAGAAGAACTGTGGGGCAACTCATTAAAAAGGAAGAAATATGGTCATTCAGATGATATGGTTTGGCTGTGTCCCCACCCAAATTTCAAGTTGATGTGTATCTCCCAGAATTCCCACGTGCGAGGGACCTAAGGGGAGGTAATTGAATCACGGGGGCCAGACTTTCCCGTGCTATTTTCATGATAGTGAATAAGTCTCACAAGATCTGATGAGTTCATCAGGGGTTTCTGCTTTTGCTTCTTCCTCATTTTTCTCTTGCCACCGCCATGTAAGAAGTGCCTTTGTCTCCCGCCATGATTCTGAGGCCTCCCCAGCAATGTGGAACTGTAAGTCCAATTAAACCTCTTTTTGTTTGCAGTTTCGGGTATGTCTTTATCAGTAATGTGAAAATGAACTAATACAACAGGATATGGGAAAGGCTTGACTTTAAAATTTATATTTTAAAATTTATTTACTTATTTATTTAGAGTTGAAGTCTCGGTATGTTGCCCAGGCGAAGCTCAAACTTCTGGGCTCAAGTGATCCTCCTGC
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Task1_train_1591
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With a mutation on Chromosome 1 in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; not specified
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AGGTACATACTTTTTGGATAGACACCAAGAACTACGTAGAAGTGACCCGGAAGTGGTATGCAGAGGCTATGCCCTTTCCCCTCAACTTCTTCCTGCCTGGCCGCATGCAGCGGCAGTACATGGAACGGCTACAGCTGCTGACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTC
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AGGTACATACTTTTTGGATAGACACCAAGAACTACGTAGAAGTGACCCGGAAGTGGTATGCAGAGGCTATGCCCTTTCCCCTCAACTTCTTCCTGCCTGGCCGCATGCAGCGGCAGTACATGGAACGGCTACAGCTGCTGACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCTCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTC
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Task1_train_1592
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Here’s a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Gaucher disease
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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Task1_train_1593
|
A change on Chromosome 1 affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Gaucher disease type I
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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Task1_train_1594
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This mutation occurs in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Parkinson disease, late-onset
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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Task1_train_1595
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Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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Task1_train_1596
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The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Gaucher disease type I
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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Task1_train_1597
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An alteration has been detected in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Gaucher disease type II
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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Task1_train_1598
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A variant affecting Chromosome 1, within the gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Gaucher disease type III
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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Task1_train_1599
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Here’s a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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Subsets and Splits
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