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_23600
|
This mutation is located in gene TP53 (tumor protein p53) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Hereditary cancer-predisposing syndrome
|
TAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCT
|
TAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTAGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCT
|
Task1_train_23601
|
Consider this mutation in TP53 (tumor protein p53) on Chromosome 17. Is this a benign change or a disease-causing variant?
|
Pathogenic; Hereditary cancer-predisposing syndrome
|
GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
|
GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
|
Task1_train_23602
|
This variant affects gene TP53 (tumor protein p53) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Adrenocortical carcinoma, hereditary
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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Task1_train_23603
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A variant was discovered in gene TP53 (tumor protein p53), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Familial cancer of breast
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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Task1_train_23604
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This variant lies on Chromosome 17 and affects the gene TP53 (tumor protein p53). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Glioma susceptibility 1
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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Task1_train_23605
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Here is a genetic alteration in TP53 (tumor protein p53) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Bone marrow failure syndrome 5
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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Task1_train_23606
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A sequence alteration has been identified in TP53 (tumor protein p53) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; Hepatocellular carcinoma
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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Task1_train_23607
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This mutation occurs in TP53 (tumor protein p53) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Colorectal cancer
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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Task1_train_23608
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A variant affecting Chromosome 17, within the gene TP53 (tumor protein p53), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Carcinoma of pancreas
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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Task1_train_23609
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The variant affects gene TP53 (tumor protein p53), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Choroid plexus papilloma
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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Task1_train_23610
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The gene TP53 (tumor protein p53), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Basal cell carcinoma, susceptibility to, 7
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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Task1_train_23611
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Given this context: Chromosome 17, gene TP53 (tumor protein p53) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Bone osteosarcoma
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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Task1_train_23612
|
An alteration has been detected in TP53 (tumor protein p53) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Li-Fraumeni syndrome 1
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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Task1_train_23613
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A sequence alteration has been identified in TP53 (tumor protein p53) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; Nasopharyngeal carcinoma
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGGGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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Task1_train_23614
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The gene TP53 (tumor protein p53), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Hereditary cancer-predisposing syndrome
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGTGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCA
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Task1_train_23615
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Here is a variant affecting TP53 (tumor protein p53) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Li-Fraumeni syndrome
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TATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAAT
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TATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGCAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAAT
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Task1_train_23616
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Here is a mutation in TP53 (tumor protein p53) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Li-Fraumeni syndrome 1
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TATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAAT
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TATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGTAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAAT
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Task1_train_23617
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This variant impacts the gene TP53 (tumor protein p53) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Li-Fraumeni syndrome 1
|
ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATC
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ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGGGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATC
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Task1_train_23618
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The gene TP53 (tumor protein p53) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Li-Fraumeni syndrome
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ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATC
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ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGGGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATC
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Task1_train_23619
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This variant affects the gene TP53 (tumor protein p53) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Hereditary cancer-predisposing syndrome
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ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATC
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ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGGGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATC
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Task1_train_23620
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A mutation found in TP53 (tumor protein p53) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Neoplasm
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ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATC
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ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGGGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATC
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Task1_train_23621
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A variant has been detected on Chromosome 17 in TP53 (tumor protein p53). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Adrenocortical carcinoma, hereditary
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TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC
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TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGAGGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC
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Task1_train_23622
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Given a variant located on Chromosome 17 and affecting TP53 (tumor protein p53), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Hereditary cancer-predisposing syndrome
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TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC
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TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGAGGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC
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Task1_train_23623
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This variant affects the gene TP53 (tumor protein p53) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Li-Fraumeni syndrome 1
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TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC
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TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGAGGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC
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Task1_train_23624
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A variant was discovered in gene TP53 (tumor protein p53), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Li-Fraumeni syndrome
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TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC
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TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGAGGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC
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Task1_train_23625
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This variant affects the gene TP53 (tumor protein p53) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Familial cancer of breast
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TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC
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TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGAGGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTC
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Task1_train_23626
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Located on Chromosome 17, this mutation impacts TP53 (tumor protein p53). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Li-Fraumeni syndrome
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CCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGCAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCCCCTGCCACCATGCCTGGCTGATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGTGGAACTCCTGACCTTGTGATCCACCTGCCTCGGCCTCTCAAAGCGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCGCCATGTTCTTTCTTTCTTTCTTTTTTCTTTTGAGGCAGGGTCTTGC
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CCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCACACATTAAGTGGGTAAACTATAAAAAAACACTGACAGGAAGCCAAAGGGTGAAGAGGAATCCCAAAGTTCCAAACAAAAGAAATGCAGGGGGATACGGCCAGGCATTGAAGTCTCATGGAAGCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGCAGGGGCCACGGGGGGAGCAGCCTCTGGCATTCTGGGAGCTTCATCTGGACCTGGGTCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGGGACGGAAAGGGGGACTGTAGATGGGTGAAAAGAGCAGTCAGAGGACCAGGTCCTCAGCCCCCCAGCCCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCAACCCTTGTCCTTACCAGAACGTTGTTTTCAGGAAGTCTGAAAGACAAGAGCAGAAAGTCAGTCCCATGGAATTTTCGCTTCCCACAGGTCTCTGCTAGGGGGCTGGGGTTGGGGTGGGGGTGGTGGGCCTGCCCTTCCAATGGATCCACTCACAGTTTCCATAGGTCTGAAAATGTTTCCTGACTCAGAGGGGGCTCGACGCTAGGATCTGACTGCGGCTCCTCCATGGCAGTGACCCGGAAGGCAGTCTGGCTGCTGCAAGAGGAAAAGTGGGGATCCAGCATGAGACACTTCCAACCCTGGGTCACCTGGGCCTGCAGAGAAGGAACCCCCTCCCCCAACACCATGCCAGTGTCTGAGACAGCTCGGCTTCCTGTGGAGCAGGAAAAGAATGGCTGCTTCACATTCTCTCTTCCAATGTTTCACCACAACCCAAGCACTCCTGCCCCACCCCTCACCAGCCATGCACTTCTTTGAGGAAAAGACAATCAGAGAGGGACTTCCAACCTTCCCACCACTAAATCCCCAAGACTTCCTAAATGTGCACCCTATTCCCAACTCCCTTCCTGTATTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCTAGGCTGGAGCACAGTGGCATGATCTCAGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCGAGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGCTTTGCATGTTGGCCAGGCTGGTCTCGAACTCCTTACTTCAGGTGATCGGCCCGCCTCAGCCTCCTAAAGTGCCAAGATTACAGGTGTGAGCTACCGTGCCCTGCTCCCACCTCCTGTTAACAAGGATATAGTCATTCTCAGCCTGCAATCTCTGTATGGGGAAGGACACCCCCTTGGCCCCCACCCTTCCCCACCTGATACACGGCTCCATTTCTTTGATTCCTTTCACTGCAAAGCTTCTGGAAGAACAACTGTCTCACCGCTCACCTGCCCATTCTCTTCGGACACTCCTCAGCCCTGCATTACAAACCCCTCACGAATGGCCCGTCTCGGCTTCTTTAATCTCATCTCTTAACAACCACTCCCTCTTCCCCAAAAGCTCTAGCTAGACTGGCTGCCCTTCTCTGCTAATCAACTGGTGGTTCCTTGGCTAGCCAGGAACATGGGGGTAGGCTCCTTCCCGTGCAGACTTTAAGTCATCCTATTTTAATTCACATCACCTCATTTGCATTCTCATAGCACTTACATTGTCTGATACTTTTCCTTGTTTATTTTATCTGTTTCCTCTAATAGCATATACACTTCCTAAGGGCAGGGCAGTGATCTATCTTGTTGTCTTGCTGACCAAAGTATTAGATCACAATGCCTTGCACCTGCTTGGGCTCAATAAATGTGAATAACACACAAGCCTGTTATATGAGAGGTTAAGAGAGCGAGAAAGAGCAAGGGGCAGCCCCTGTGTGGACCAGCATCTTGCACGAAGTTATGCAACTATCATCGCACCTTCTCCCAGACAAGCTTTCAAAGGCTTTGCCATGTTTTCTTTTGTTTTGTTTTTTTGTTTGTTTTTTGAGATGGAGTTTGGCTCTTTTCGCCCAGGCTGGAGTGCAGTGGTGCAGTCTAGGCTCACTGCAACCTCTGCCTTCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCCCCTGCCACCATGCCTGGCTGATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTGTGGAACTCCTGACCTTGTGATCCACCTGCCTCGGCCTCTCAAAGCGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCCGCCATGTTCTTTCTTTCTTTCTTTTTTCTTTTGAGGCAGGGTCTTGC
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Task1_train_23627
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A mutation on Chromosome 17 affecting WRAP53 (WD repeat containing antisense to TP53) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Dyskeratosis congenita, autosomal recessive 3
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GGTGAAACCCTGTCTCTATTAAAAAAAAAAACAAAAACAAAATTAGCCAGGCATGGTGGTGCATGCTCTGTCTCAAAATAATAAAAAAAAAAAAGTATGAATCTATATGGCTTTTGGTGGCTAAATTTGACATTAAAGTCTGAGCTCACCCTTGAACATTGAGACAGAGTCTGTGCTCCATATATACACCCCATCTGCCACAACACTGCTAGAGGCACGCGCCTCAGACTCCTTTTCCCTCCGAGTGACTCAGCCATTCCCCCGTCTCTGTATAGGTCCCTGTCCTTCGAATGGTGGAAGGTGATACCATCTATGATTACTGCTGGTATTCTCTGATGTCCTCAGCCCAGCCAGACACCTCCTAGTAAGTAATGTTTGCCTCCCTGCTCGCCGCCCCACCACCCAGTTTCAAGCAGGGCCTCTTGGGAGAGTCAAGGGCTGCCAGGGGTCTTTGGAGGAGGAAGGCTTGGCATGCTTATCAGAGGGGCTGGTCAGTTGGCTTCCTCCCCTTCCTTTTTTTTTTTTTAGATTGAGTCTCCCTCTGTCACCCAGGCTGGAGGGCGGTGATGCAGTCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTGAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTGTGTATTTTTCATAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTGAAGTGCTTGGATTACAGGCATGAGCCACCACACCCAGCCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCATTCCTCCCCTTCCTTTGACAGCACCGGGGTTTCAGTGTCCATGTCTCTCTCAGCGTGGCCAGCAGCAGCCGGGAGAACCCGATTCATATCTGGGACGCATTCACTGGAGAGCTCCGGGCTTCCTTTCGCGCCTACAACCACCTGGTAGGGACCGCCATACTCAGCCCCAGCACTCGTACTGGCCCGGCTCTCCTTCCTTGAGGGCAGCTGAGGCTTTGCAAGACCTGTTTTCAGCCCTTTCCTTCCCCCAGGATGAGCTGACGGCAGCCCATTCGCTCTGCTTCTCCCCGGATGGCTCCCAGCTCTTCTGTGGCTTCAACCGGACTGTGCGTGTTTTTTCCACGGCCCGGCCTGGCCGAGACTGCGAGGTCCGAGCCACATTTGGTAAGCATCTGTGCCTCCAAGGGAGGAGGAGAGGGAAGGGCACTGCCACCTGCACAGGGGCCTTTTGTGAGCCGGGGGCCACCTGTGGGGGTTCACGCCGTCCTCTGTACGGCCCCGGGAGCAGGTGCAGCCCAGTCGGCAGAGGAGCAAACAGGCTCAGAGCAGGTAGGAAACCTTCCCAAGGCCAACCAGCTGGTCAAAGGACTGCTTCCTTCCTGAACTCATACCCTGTCAGCTGTGGAGCTTTTGGTCTCTGAAATCTTTCTAGAAAATTGTTGATAAAGCTGATTCCGTTTTCCTGTAGGCCTTCAACTTGCATCTCTCCAAGGAAGAACTGGGATTTGAGAGGGATGAAGTGGGGCTTGGGCATTTAGGTCCTTTGGGAGGATAGATGTGGGGAGCATCAGAGGTCTTTGTCCTGCTTGTGACAGACAGCATGGGGGGGATGTTGAGTCCAAGCATGTTGGTGCTGGGACGGGAGACAGACCTCTGCTTAGCCTGGTTAGTGCCAGGAGCCATTGCCCCCTCCCCCACTTTGTTCCTTCCCTCTCTAGCAAAAAAGCAGGGCCAGAGCGGCATCATCTCCTGCATAGCCTTCAGCCCAGCCCAGCCCCTCTATGCCTGTGGCTCCTACGGCCGCTCCCTGGGTCTGTATGCCTGGGATGATGGCTCCCCTCTCGCCTTGCTGGGAGGGCACCAAGGGGGCATCACCCACCTCTGCTTTCATCCCGATGGCAACCGCTTCTTCTCAGGAGCCCGCAAGGTAGGGGTCACACCCTGAGAGCCCAAAGCAGCTGGGCAGCGGGGCAGGAGCAGGGATGTAGTCTGCAGTGTAGGGGAATGGGTGGGGATGGGGAAAAAATCCCAAGCTGAAGGAGTGCCTGGAGACCCCGAGGGAGGCAGGGACATCCAGGGCTTTGGGGGTGACTCCAGGTCCTGTTCCTTGTCTCCAGGATGCTGAGCTCCTGTGCTGGGATCTCCGGCAGTCTGGTTACCCACTGTGGTCCCTGGGTCGAGAGGTGACCACCAATCAGCGCATCTACTTCGATCTGGACCCGTGAGTGGCTGTGACTCCTTCCTACACAGGGCCCTGATAAGCCTAGGAATGCCAGAGCCCAGCTGTAGGGTCCCAGTCCCTGGGTGTGAGGGGTTCCTGCCCCAGGGGTGAGGCCTCTGCCAGCAAATCTCTCCTCTCTCTCGCAGGACCGGGCAGTTCCTAGTGAGTGGCAGCACGAGCGGGGCTGTCTCTGTGTGGGACACGGACGGGCCTGGCAATGATGGGAAGCCGGAGCCCGTGTTGAGTTTTCTGCCCCAGAAGGACTGCACCAATGGCGTGAGGTCCTCAGTTCAATTCCAGAGATGTTGGGGCTTGGGTTGGGGAGGGAGGTGAATCCCAGAGGGAGCAAGTGTCCTCACTGAAGGCACTGATAGACCCTCCCCATCTCTCCCTCAGCCTGCACCCTAGCCTGCCTCTCCTGGCCACTGCCTCCGGTCAGCGTGTGTTTCCTGAGCCCACAGAGAGTGGGGACGAAGGAGAGGAGCTGGGCCTTCCCTTGCTCTCCACGCGCCACGTCCACCTTGAATGTCGGCTTCAGCTCTGGTGGTGTGGGGGGGCGCCAGACTCCAGCATCCCTGATGATCACCAGGGCGAGAAAGGGCAGGGAGGAACGGAGGGAGGTGTGGGTGAGCTGATATAAAAAGGTTTTTATGATACTAGAGTCTTCGTGTCTGTTTTGGGGGGGCATATGAGTGAGGTGGGGGACCAGGCAGGGGGACTGGCGGGCTCCCTGGTCCAGCAGCAGTGGGTATGGCATATTGGTCCTGAAACCAGGCGTTGAGAGGTGGGACCAGGCAGGAGCCAATGGGGCGGCTGAGCTTGGTGTGAAGTCAAGTGGGTGGGGGTGGGGCTTCATGCCATTGACTGGTTGGTTGCTAGGCAACTTGGTAAACTGAAGGGGGAAACCTGTTTGAAATCTCACTCCCAAGGTGGGGGCGGCAGGGGTCAGGGTGAGCGGGGCTGAGCAGGAGCTGGGTCAGACTGTTGGGTGTGACCGTGTGAGACTGTGCAGACAGTGACAGGGCGCCTGTCGCCCACACTCCACACTGTTTGCCATTCTCCAGCAGCATGGGGACCATTACTCAGCTCTGAGGGGAGCAGGAGCACTCTCCTCCGCTCCCCGGGGCTCCCCAGGAGGCAGACAACCCAGTTGCCAGAGTCAAGGACACACATAAAAGAGTAAAGGTGTTGAAAAATACAGTCGTCACCTTTGATATTGCTGTTCCATGCGGGGCGCGGCGAGGGTCTTATTCATTCAGCGGCTGTCGCTGGGCTTGTTTCTCCATTTGTCTGCTCTGTCTTTGGGGGTGGGGGACGAGTGTGTCATTTGAAGCAGTGACTCCTCCCTCCTCCCCCCAACACCTTCCCAAACACTGAGAATGGGGGGACTTTGAAGAAATACTGCCAGCAGGGGATGTGATTTTGGACCTCACAATCAAAGGGAAGGGACGAAAGGCCTGGGGAGGCTTGAGAGGGAGAGGAATGTCACCCCTGCCCAGAGGTGCTGAAAGCCAGGGCTCTTACACCCGAAAAGGCAACTCCTCCCTTCCCCCAGGATAATTGGAAACAGCCCTTCCTGCGCAGCGCCGGTTTGGGGTTGTAGGTACGCCCCTTCTTCTCCCAGCCCCGCTTCTCCCCCCAGCCATCTAGGAAAGACCCAAGTGTATCCCCTAAACTCTTGTTTTTCACTAACCCCCAGGTAACAACAGCACTTG
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GGTGAAACCCTGTCTCTATTAAAAAAAAAAACAAAAACAAAATTAGCCAGGCATGGTGGTGCATGCTCTGTCTCAAAATAATAAAAAAAAAAAAGTATGAATCTATATGGCTTTTGGTGGCTAAATTTGACATTAAAGTCTGAGCTCACCCTTGAACATTGAGACAGAGTCTGTGCTCCATATATACACCCCATCTGCCACAACACTGCTAGAGGCACGCGCCTCAGACTCCTTTTCCCTCCGAGTGACTCAGCCATTCCCCCGTCTCTGTATAGGTCCCTGTCCTTCGAATGGTGGAAGGTGATACCATCTATGATTACTGCTGGTATTCTCTGATGTCCTCAGCCCAGCCAGACACCTCCTAGTAAGTAATGTTTGCCTCCCTGCTCGCCGCCCCACCACCCAGTTTCAAGCAGGGCCTCTTGGGAGAGTCAAGGGCTGCCAGGGGTCTTTGGAGGAGGAAGGCTTGGCATGCTTATCAGAGGGGCTGGTCAGTTGGCTTCCTCCCCTTCCTTTTTTTTTTTTTAGATTGAGTCTCCCTCTGTCACCCAGGCTGGAGGGCGGTGATGCAGTCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTGAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTGTGTATTTTTCATAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTGAAGTGCTTGGATTACAGGCATGAGCCACCACACCCAGCCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCATTCCTCCCCTTCCTTTGACAGCACCGGGGTTTCAGTGTCCATGTCTCTCTCAGCGTGGCCAGCAGCAGCCGGGAGAACCCGATTCATATCTGGGACGCATTCACTGGAGAGCTCCGGGCTTCCTTTCGCGCCTACAACCACCTGGTAGGGACCGCCATACTCAGCCCCAGCACTCGTACTGGCCCGGCTCTCCTTCCTTGAGGGCAGCTGAGGCTTTGCAAGACCTGTTTTCAGCCCTTTCCTTCCCCCAGGATGAGCTGACGGCAGCCCATTCGCTCTGCTTCTCCCCGGATGGCTCCCAGCTCTTCTGTGGCTTCAACCGGACTGTGCGTGTTTTTTCCACGGCCCGGCCTGGCCGAGACTGCGAGGTCCGAGCCACATTTGGTAAGCATCTGTGCCTCCAAGGGAGGAGGAGAGGGAAGGGCACTGCCACCTGCACAGGGGCCTTTTGTGAGCCGGGGGCCACCTGTGGGGGTTCACGCCGTCCTCTGTACGGCCCCGGGAGCAGGTGCAGCCCAGTCGGCAGAGGAGCAAACAGGCTCAGAGCAGGTAGGAAACCTTCCCAAGGCCAACCAGCTGGTCAAAGGACTGCTTCCTTCCTGAACTCATACCCTGTCAGCTGTGGAGCTTTTGGTCTCTGAAATCTTTCTAGAAAATTGTTGATAAAGCTGATTCCGTTTTCCTGTAGGCCTTCAACTTGCATCTCTCCAAGGAAGAACTGGGATTTGAGAGGGATGAAGTGGGGCTTGGGCATTTAGGTCCTTTGGGAGGATAGATGTGGGGAGCATCAGAGGTCTTTGTCCTGCTTGTGACAGACAGCATGGGGGGGATGTTGAGTCCAAGCATGTTGGTGCTGGGACGGGAGACAGACCTCTGCTTAGCCTGGTTAGTGCCAGGAGCCATTGCCCCCTCCCCCACTTTGTTCCTTCCCTCTCTAGCAAAAAAGCAGGGCCAGAGCGGCATCATCTCCTGCATAGCCTTCAGCCCAGCCCAGCCCCTCTATGCCTGTGGCTCCTACGGCCGCTCCCTGGGTCTGTATGCCTGGGATGATGGCTCCCCTCTCGCCTTGCTGGGAGGGCACCAAGGGGGCATCACCCACCTCTGCTTTTATCCCGATGGCAACCGCTTCTTCTCAGGAGCCCGCAAGGTAGGGGTCACACCCTGAGAGCCCAAAGCAGCTGGGCAGCGGGGCAGGAGCAGGGATGTAGTCTGCAGTGTAGGGGAATGGGTGGGGATGGGGAAAAAATCCCAAGCTGAAGGAGTGCCTGGAGACCCCGAGGGAGGCAGGGACATCCAGGGCTTTGGGGGTGACTCCAGGTCCTGTTCCTTGTCTCCAGGATGCTGAGCTCCTGTGCTGGGATCTCCGGCAGTCTGGTTACCCACTGTGGTCCCTGGGTCGAGAGGTGACCACCAATCAGCGCATCTACTTCGATCTGGACCCGTGAGTGGCTGTGACTCCTTCCTACACAGGGCCCTGATAAGCCTAGGAATGCCAGAGCCCAGCTGTAGGGTCCCAGTCCCTGGGTGTGAGGGGTTCCTGCCCCAGGGGTGAGGCCTCTGCCAGCAAATCTCTCCTCTCTCTCGCAGGACCGGGCAGTTCCTAGTGAGTGGCAGCACGAGCGGGGCTGTCTCTGTGTGGGACACGGACGGGCCTGGCAATGATGGGAAGCCGGAGCCCGTGTTGAGTTTTCTGCCCCAGAAGGACTGCACCAATGGCGTGAGGTCCTCAGTTCAATTCCAGAGATGTTGGGGCTTGGGTTGGGGAGGGAGGTGAATCCCAGAGGGAGCAAGTGTCCTCACTGAAGGCACTGATAGACCCTCCCCATCTCTCCCTCAGCCTGCACCCTAGCCTGCCTCTCCTGGCCACTGCCTCCGGTCAGCGTGTGTTTCCTGAGCCCACAGAGAGTGGGGACGAAGGAGAGGAGCTGGGCCTTCCCTTGCTCTCCACGCGCCACGTCCACCTTGAATGTCGGCTTCAGCTCTGGTGGTGTGGGGGGGCGCCAGACTCCAGCATCCCTGATGATCACCAGGGCGAGAAAGGGCAGGGAGGAACGGAGGGAGGTGTGGGTGAGCTGATATAAAAAGGTTTTTATGATACTAGAGTCTTCGTGTCTGTTTTGGGGGGGCATATGAGTGAGGTGGGGGACCAGGCAGGGGGACTGGCGGGCTCCCTGGTCCAGCAGCAGTGGGTATGGCATATTGGTCCTGAAACCAGGCGTTGAGAGGTGGGACCAGGCAGGAGCCAATGGGGCGGCTGAGCTTGGTGTGAAGTCAAGTGGGTGGGGGTGGGGCTTCATGCCATTGACTGGTTGGTTGCTAGGCAACTTGGTAAACTGAAGGGGGAAACCTGTTTGAAATCTCACTCCCAAGGTGGGGGCGGCAGGGGTCAGGGTGAGCGGGGCTGAGCAGGAGCTGGGTCAGACTGTTGGGTGTGACCGTGTGAGACTGTGCAGACAGTGACAGGGCGCCTGTCGCCCACACTCCACACTGTTTGCCATTCTCCAGCAGCATGGGGACCATTACTCAGCTCTGAGGGGAGCAGGAGCACTCTCCTCCGCTCCCCGGGGCTCCCCAGGAGGCAGACAACCCAGTTGCCAGAGTCAAGGACACACATAAAAGAGTAAAGGTGTTGAAAAATACAGTCGTCACCTTTGATATTGCTGTTCCATGCGGGGCGCGGCGAGGGTCTTATTCATTCAGCGGCTGTCGCTGGGCTTGTTTCTCCATTTGTCTGCTCTGTCTTTGGGGGTGGGGGACGAGTGTGTCATTTGAAGCAGTGACTCCTCCCTCCTCCCCCCAACACCTTCCCAAACACTGAGAATGGGGGGACTTTGAAGAAATACTGCCAGCAGGGGATGTGATTTTGGACCTCACAATCAAAGGGAAGGGACGAAAGGCCTGGGGAGGCTTGAGAGGGAGAGGAATGTCACCCCTGCCCAGAGGTGCTGAAAGCCAGGGCTCTTACACCCGAAAAGGCAACTCCTCCCTTCCCCCAGGATAATTGGAAACAGCCCTTCCTGCGCAGCGCCGGTTTGGGGTTGTAGGTACGCCCCTTCTTCTCCCAGCCCCGCTTCTCCCCCCAGCCATCTAGGAAAGACCCAAGTGTATCCCCTAAACTCTTGTTTTTCACTAACCCCCAGGTAACAACAGCACTTG
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Task1_train_23628
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Here is a mutation in WRAP53 (WD repeat containing antisense to TP53) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; not provided
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TTTTTTTTTTTTTAGATTGAGTCTCCCTCTGTCACCCAGGCTGGAGGGCGGTGATGCAGTCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTGAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTGTGTATTTTTCATAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTGAAGTGCTTGGATTACAGGCATGAGCCACCACACCCAGCCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCATTCCTCCCCTTCCTTTGACAGCACCGGGGTTTCAGTGTCCATGTCTCTCTCAGCGTGGCCAGCAGCAGCCGGGAGAACCCGATTCATATCTGGGACGCATTCACTGGAGAGCTCCGGGCTTCCTTTCGCGCCTACAACCACCTGGTAGGGACCGCCATACTCAGCCCCAGCACTCGTACTGGCCCGGCTCTCCTTCCTTGAGGGCAGCTGAGGCTTTGCAAGACCTGTTTTCAGCCCTTTCCTTCCCCCAGGATGAGCTGACGGCAGCCCATTCGCTCTGCTTCTCCCCGGATGGCTCCCAGCTCTTCTGTGGCTTCAACCGGACTGTGCGTGTTTTTTCCACGGCCCGGCCTGGCCGAGACTGCGAGGTCCGAGCCACATTTGGTAAGCATCTGTGCCTCCAAGGGAGGAGGAGAGGGAAGGGCACTGCCACCTGCACAGGGGCCTTTTGTGAGCCGGGGGCCACCTGTGGGGGTTCACGCCGTCCTCTGTACGGCCCCGGGAGCAGGTGCAGCCCAGTCGGCAGAGGAGCAAACAGGCTCAGAGCAGGTAGGAAACCTTCCCAAGGCCAACCAGCTGGTCAAAGGACTGCTTCCTTCCTGAACTCATACCCTGTCAGCTGTGGAGCTTTTGGTCTCTGAAATCTTTCTAGAAAATTGTTGATAAAGCTGATTCCGTTTTCCTGTAGGCCTTCAACTTGCATCTCTCCAAGGAAGAACTGGGATTTGAGAGGGATGAAGTGGGGCTTGGGCATTTAGGTCCTTTGGGAGGATAGATGTGGGGAGCATCAGAGGTCTTTGTCCTGCTTGTGACAGACAGCATGGGGGGGATGTTGAGTCCAAGCATGTTGGTGCTGGGACGGGAGACAGACCTCTGCTTAGCCTGGTTAGTGCCAGGAGCCATTGCCCCCTCCCCCACTTTGTTCCTTCCCTCTCTAGCAAAAAAGCAGGGCCAGAGCGGCATCATCTCCTGCATAGCCTTCAGCCCAGCCCAGCCCCTCTATGCCTGTGGCTCCTACGGCCGCTCCCTGGGTCTGTATGCCTGGGATGATGGCTCCCCTCTCGCCTTGCTGGGAGGGCACCAAGGGGGCATCACCCACCTCTGCTTTCATCCCGATGGCAACCGCTTCTTCTCAGGAGCCCGCAAGGTAGGGGTCACACCCTGAGAGCCCAAAGCAGCTGGGCAGCGGGGCAGGAGCAGGGATGTAGTCTGCAGTGTAGGGGAATGGGTGGGGATGGGGAAAAAATCCCAAGCTGAAGGAGTGCCTGGAGACCCCGAGGGAGGCAGGGACATCCAGGGCTTTGGGGGTGACTCCAGGTCCTGTTCCTTGTCTCCAGGATGCTGAGCTCCTGTGCTGGGATCTCCGGCAGTCTGGTTACCCACTGTGGTCCCTGGGTCGAGAGGTGACCACCAATCAGCGCATCTACTTCGATCTGGACCCGTGAGTGGCTGTGACTCCTTCCTACACAGGGCCCTGATAAGCCTAGGAATGCCAGAGCCCAGCTGTAGGGTCCCAGTCCCTGGGTGTGAGGGGTTCCTGCCCCAGGGGTGAGGCCTCTGCCAGCAAATCTCTCCTCTCTCTCGCAGGACCGGGCAGTTCCTAGTGAGTGGCAGCACGAGCGGGGCTGTCTCTGTGTGGGACACGGACGGGCCTGGCAATGATGGGAAGCCGGAGCCCGTGTTGAGTTTTCTGCCCCAGAAGGACTGCACCAATGGCGTGAGGTCCTCAGTTCAATTCCAGAGATGTTGGGGCTTGGGTTGGGGAGGGAGGTGAATCCCAGAGGGAGCAAGTGTCCTCACTGAAGGCACTGATAGACCCTCCCCATCTCTCCCTCAGCCTGCACCCTAGCCTGCCTCTCCTGGCCACTGCCTCCGGTCAGCGTGTGTTTCCTGAGCCCACAGAGAGTGGGGACGAAGGAGAGGAGCTGGGCCTTCCCTTGCTCTCCACGCGCCACGTCCACCTTGAATGTCGGCTTCAGCTCTGGTGGTGTGGGGGGGCGCCAGACTCCAGCATCCCTGATGATCACCAGGGCGAGAAAGGGCAGGGAGGAACGGAGGGAGGTGTGGGTGAGCTGATATAAAAAGGTTTTTATGATACTAGAGTCTTCGTGTCTGTTTTGGGGGGGCATATGAGTGAGGTGGGGGACCAGGCAGGGGGACTGGCGGGCTCCCTGGTCCAGCAGCAGTGGGTATGGCATATTGGTCCTGAAACCAGGCGTTGAGAGGTGGGACCAGGCAGGAGCCAATGGGGCGGCTGAGCTTGGTGTGAAGTCAAGTGGGTGGGGGTGGGGCTTCATGCCATTGACTGGTTGGTTGCTAGGCAACTTGGTAAACTGAAGGGGGAAACCTGTTTGAAATCTCACTCCCAAGGTGGGGGCGGCAGGGGTCAGGGTGAGCGGGGCTGAGCAGGAGCTGGGTCAGACTGTTGGGTGTGACCGTGTGAGACTGTGCAGACAGTGACAGGGCGCCTGTCGCCCACACTCCACACTGTTTGCCATTCTCCAGCAGCATGGGGACCATTACTCAGCTCTGAGGGGAGCAGGAGCACTCTCCTCCGCTCCCCGGGGCTCCCCAGGAGGCAGACAACCCAGTTGCCAGAGTCAAGGACACACATAAAAGAGTAAAGGTGTTGAAAAATACAGTCGTCACCTTTGATATTGCTGTTCCATGCGGGGCGCGGCGAGGGTCTTATTCATTCAGCGGCTGTCGCTGGGCTTGTTTCTCCATTTGTCTGCTCTGTCTTTGGGGGTGGGGGACGAGTGTGTCATTTGAAGCAGTGACTCCTCCCTCCTCCCCCCAACACCTTCCCAAACACTGAGAATGGGGGGACTTTGAAGAAATACTGCCAGCAGGGGATGTGATTTTGGACCTCACAATCAAAGGGAAGGGACGAAAGGCCTGGGGAGGCTTGAGAGGGAGAGGAATGTCACCCCTGCCCAGAGGTGCTGAAAGCCAGGGCTCTTACACCCGAAAAGGCAACTCCTCCCTTCCCCCAGGATAATTGGAAACAGCCCTTCCTGCGCAGCGCCGGTTTGGGGTTGTAGGTACGCCCCTTCTTCTCCCAGCCCCGCTTCTCCCCCCAGCCATCTAGGAAAGACCCAAGTGTATCCCCTAAACTCTTGTTTTTCACTAACCCCCAGGTAACAACAGCACTTGGTCCATGGAGCAGTGACAAAAGAGACCCCAAGAGTGGGAGGTGCGCAGCCTGGGTTTGGTTTCTAGCTTTATCCCAGACTTCCTGTGTGACCTTGGGCAAGTCACGGGGCCTCCCTGAGCCTCAGTTTCCTCATCTCTGCAATGGGATCGTTAGCTCTGCCCCTCCCACTTCACACAGGTAGTCGTGACGATCAGCTCCGCCGCACTTTGTAAAGCGCCAAGCCTTCAAGGTTATTATTATTCTCTCCAAACCTGCCGGGAGCAGCGGTGTTGTTTTGGGATGGAGGAGGAGGCTGCGGGAGCGAAAGGGGTGGGTTCCTCGGGGTGGAGAGGGCGAGAGCCTTTCTGGATTCGAGAGAGGAAGATTCCAGCAGCTTGGGCGATCGGAGGGCAGGAGGGGAGCCGGGCAGAACTCAGCCGGAGCCAGAGGCTCGGAGAGACAAAGGGGGCGTGACAGCCCGCGCCGGGGGCTGAGGCGGGGCGGCGGGCGGGAGGTGCGCGAGGTGAGGGAGG
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TTTTTTTTTTTTTAGATTGAGTCTCCCTCTGTCACCCAGGCTGGAGGGCGGTGATGCAGTCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTGAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTGTGTATTTTTCATAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTGAAGTGCTTGGATTACAGGCATGAGCCACCACACCCAGCCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCATTCCTCCCCTTCCTTTGACAGCACCGGGGTTTCAGTGTCCATGTCTCTCTCAGCGTGGCCAGCAGCAGCCGGGAGAACCCGATTCATATCTGGGACGCATTCACTGGAGAGCTCCGGGCTTCCTTTCGCGCCTACAACCACCTGGTAGGGACCGCCATACTCAGCCCCAGCACTCGTACTGGCCCGGCTCTCCTTCCTTGAGGGCAGCTGAGGCTTTGCAAGACCTGTTTTCAGCCCTTTCCTTCCCCCAGGATGAGCTGACGGCAGCCCATTCGCTCTGCTTCTCCCCGGATGGCTCCCAGCTCTTCTGTGGCTTCAACCGGACTGTGCGTGTTTTTTCCACGGCCCGGCCTGGCCGAGACTGCGAGGTCCGAGCCACATTTGGTAAGCATCTGTGCCTCCAAGGGAGGAGGAGAGGGAAGGGCACTGCCACCTGCACAGGGGCCTTTTGTGAGCCGGGGGCCACCTGTGGGGGTTCACGCCGTCCTCTGTACGGCCCCGGGAGCAGGTGCAGCCCAGTCGGCAGAGGAGCAAACAGGCTCAGAGCAGGTAGGAAACCTTCCCAAGGCCAACCAGCTGGTCAAAGGACTGCTTCCTTCCTGAACTCATACCCTGTCAGCTGTGGAGCTTTTGGTCTCTGAAATCTTTCTAGAAAATTGTTGATAAAGCTGATTCCGTTTTCCTGTAGGCCTTCAACTTGCATCTCTCCAAGGAAGAACTGGGATTTGAGAGGGATGAAGTGGGGCTTGGGCATTTAGGTCCTTTGGGAGGATAGATGTGGGGAGCATCAGAGGTCTTTGTCCTGCTTGTGACAGACAGCATGGGGGGGATGTTGAGTCCAAGCATGTTGGTGCTGGGACGGGAGACAGACCTCTGCTTAGCCTGGTTAGTGCCAGGAGCCATTGCCCCCTCCCCCACTTTGTTCCTTCCCTCTCTAGCAAAAAAGCAGGGCCAGAGCGGCATCATCTCCTGCATAGCCTTCAGCCCAGCCCAGCCCCTCTATGCCTGTGGCTCCTACGGCCGCTCCCTGGGTCTGTATGCCTGGGATGATGGCTCCCCTCTCGCCTTGCTGGGAGGGCACCAAGGGGGCATCACCCACCTCTGCTTTCATCCCGATGGCAACCGCTTCTTCTCAGGAGCCCGCAAGGTAGGGGTCACACCCTGAGAGCCCAAAGCAGCTGGGCAGCGGGGCAGGAGCAGGGATGTAGTCTGCAGTGTAGGGGAATGGGTGGGGATGGGGAAAAAATCCCAAGCTGAAGGAGTGCCTGGAGACCCCGAGGGAGGCAGGGACATCCAGGGCTTTGGGGGTGACTCCAGGTCCTGTTCCTTGTCTCCAGGATGCTGAGCTCCTGTGCTGGGATCTCCGGCAGTCTGGTTACCCACTGTGGTCCCTGGGTCGAGAGGTGACCACCAATCAGCGCATCTACTTCGATCTGGACCCGTGAGTGGCTGTGACTCCTTCCTACACAGGGCCCTGATAAGCCTAGGAATGCCAGAGCCCAGCTGTAGGGTCCCAGTCCCTGGGTGTGAGGGGTTCCTGCCCCAGGGGTGAGGCCTCTGCCAGCAAATCTCTCCTCTCTCTCGCAGGACCGGGCAGTTCCTAGTGAGTGGCAGCACGAGCAGGGCTGTCTCTGTGTGGGACACGGACGGGCCTGGCAATGATGGGAAGCCGGAGCCCGTGTTGAGTTTTCTGCCCCAGAAGGACTGCACCAATGGCGTGAGGTCCTCAGTTCAATTCCAGAGATGTTGGGGCTTGGGTTGGGGAGGGAGGTGAATCCCAGAGGGAGCAAGTGTCCTCACTGAAGGCACTGATAGACCCTCCCCATCTCTCCCTCAGCCTGCACCCTAGCCTGCCTCTCCTGGCCACTGCCTCCGGTCAGCGTGTGTTTCCTGAGCCCACAGAGAGTGGGGACGAAGGAGAGGAGCTGGGCCTTCCCTTGCTCTCCACGCGCCACGTCCACCTTGAATGTCGGCTTCAGCTCTGGTGGTGTGGGGGGGCGCCAGACTCCAGCATCCCTGATGATCACCAGGGCGAGAAAGGGCAGGGAGGAACGGAGGGAGGTGTGGGTGAGCTGATATAAAAAGGTTTTTATGATACTAGAGTCTTCGTGTCTGTTTTGGGGGGGCATATGAGTGAGGTGGGGGACCAGGCAGGGGGACTGGCGGGCTCCCTGGTCCAGCAGCAGTGGGTATGGCATATTGGTCCTGAAACCAGGCGTTGAGAGGTGGGACCAGGCAGGAGCCAATGGGGCGGCTGAGCTTGGTGTGAAGTCAAGTGGGTGGGGGTGGGGCTTCATGCCATTGACTGGTTGGTTGCTAGGCAACTTGGTAAACTGAAGGGGGAAACCTGTTTGAAATCTCACTCCCAAGGTGGGGGCGGCAGGGGTCAGGGTGAGCGGGGCTGAGCAGGAGCTGGGTCAGACTGTTGGGTGTGACCGTGTGAGACTGTGCAGACAGTGACAGGGCGCCTGTCGCCCACACTCCACACTGTTTGCCATTCTCCAGCAGCATGGGGACCATTACTCAGCTCTGAGGGGAGCAGGAGCACTCTCCTCCGCTCCCCGGGGCTCCCCAGGAGGCAGACAACCCAGTTGCCAGAGTCAAGGACACACATAAAAGAGTAAAGGTGTTGAAAAATACAGTCGTCACCTTTGATATTGCTGTTCCATGCGGGGCGCGGCGAGGGTCTTATTCATTCAGCGGCTGTCGCTGGGCTTGTTTCTCCATTTGTCTGCTCTGTCTTTGGGGGTGGGGGACGAGTGTGTCATTTGAAGCAGTGACTCCTCCCTCCTCCCCCCAACACCTTCCCAAACACTGAGAATGGGGGGACTTTGAAGAAATACTGCCAGCAGGGGATGTGATTTTGGACCTCACAATCAAAGGGAAGGGACGAAAGGCCTGGGGAGGCTTGAGAGGGAGAGGAATGTCACCCCTGCCCAGAGGTGCTGAAAGCCAGGGCTCTTACACCCGAAAAGGCAACTCCTCCCTTCCCCCAGGATAATTGGAAACAGCCCTTCCTGCGCAGCGCCGGTTTGGGGTTGTAGGTACGCCCCTTCTTCTCCCAGCCCCGCTTCTCCCCCCAGCCATCTAGGAAAGACCCAAGTGTATCCCCTAAACTCTTGTTTTTCACTAACCCCCAGGTAACAACAGCACTTGGTCCATGGAGCAGTGACAAAAGAGACCCCAAGAGTGGGAGGTGCGCAGCCTGGGTTTGGTTTCTAGCTTTATCCCAGACTTCCTGTGTGACCTTGGGCAAGTCACGGGGCCTCCCTGAGCCTCAGTTTCCTCATCTCTGCAATGGGATCGTTAGCTCTGCCCCTCCCACTTCACACAGGTAGTCGTGACGATCAGCTCCGCCGCACTTTGTAAAGCGCCAAGCCTTCAAGGTTATTATTATTCTCTCCAAACCTGCCGGGAGCAGCGGTGTTGTTTTGGGATGGAGGAGGAGGCTGCGGGAGCGAAAGGGGTGGGTTCCTCGGGGTGGAGAGGGCGAGAGCCTTTCTGGATTCGAGAGAGGAAGATTCCAGCAGCTTGGGCGATCGGAGGGCAGGAGGGGAGCCGGGCAGAACTCAGCCGGAGCCAGAGGCTCGGAGAGACAAAGGGGGCGTGACAGCCCGCGCCGGGGGCTGAGGCGGGGCGGCGGGCGGGAGGTGCGCGAGGTGAGGGAGG
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Task1_train_23629
|
Gene DNAH2 (dynein axonemal heavy chain 2), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Spermatogenic failure 45
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TCGTCATCACCCCCCTGACGGACAGGTCTGCCATGTGGGATGAATGAGGTGGCTGGGGTGGGGGGCAGCAGAAGCTGAGAGAGGCTTCCAGGAGTCTGACTCTAGTTCTGTCCTCAATTCTCAGGTGTTACATGACACTGACCACGGCATTGCACCTGCACCGAGGGGGCTCCCCCAAAGGCCCTGCAGGCACAGGCAAGACCGAGACCGTCAAGGACCTGGGCAAGGCCCTGGGCATATATGTCATTGTGGTCAACTGCTCTGAGGGCCTGGACTACAAGTCCATGGGCCGAATGTACTCAGGTCTGGCCCAGGTCAGTATCCTGCCACCCTGTGCCAGAAGCCCCTTAAATACCTTTTCGTCCCAGAAAATAAACTGAAACCCAAATCTGGTTCAGTGCTTTGTAGCTTCATGACATTGCATCACATGTAATTCTTATTTATTTATTTATTTATTTTTTGGAGTGCAGTGGCATGATCTCGGTTCACTGCAACCTTTGCCTGCTGGGTTCGGGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGACACCAAGCCCGGAGAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCACGTATAATTCTTACAACTAGGAAAGTCCCTTCCCCTTCCTGAGCTTCATGTAGCTTATTTGCAAAATCAGAAGATTATAAAGGATTAAAGAAAATAATGTGTGTTAACTGGAGCAGAGTAGACAGTGCACACAAGTTCCCTACCCCAGTCTCTTTCCAACCCACACCTTTTCTAGCATCACCCCAGATTGGCCCCATCTGATGGAAAGTTCTGGCCAGAAGCTACAACAGTGTACTCTGGTGCCCTCCTCCCTGCCCCCTAGTCTGGAGGCCGCCTCGCCTATTGAAACATTTGAAGGAAGGGTGCGTTAATCACGCTTTCTAGCCTCTTGGGGCACCTCTCGCTCCCAGTGACTCTGCCTTGCACCCCGCAGACTGGAGCTTGGGGCTGCTTTGATGAGTTTAACCGCATCAACATCGAGGTGCTGTCAGTGGTGGCCCACCAGATCCTGTGCATCCTGTCTGCCCTGGCTGCCGGCCTCACCCATTTCCATTTTGATGGCTTTGAAATAAATCTGGTGTGGTCCTGTGGGATCTTCATTACCATGAATCCTGGTAGGTGGCAGGGAGTGGATGGGACTCCTGGGGTGGGAAGAACTGGGTGTTCAGGGGAAATAACTGCGCATCCTCCTCTTCCCCCTTCCATGCGAATGTATATAGCTAAGTGAAGTCTGGCTAAAGATAGCAAAGGGGAGAGAAGGATAAACACAACTTTCCGGGAGAAGGGGAAGCAATCTTACTGTTTTCCCCAAAGGGATTAATAACCACTTATGTGTGTATATGTAGCCCTCATCTTTTAAGATACTTAGCTTTCTTCTCCCTTTAGGCTAGCTCCAAGAGTTCTGGTCTCTCTGCCATCTCTTTTGCAGCAGGCTCTAGGGTCTCTCATTACTGTTTCCTAGGAACAACTCTGGGGGAAGGGTCTAGGACAGCACAGGGATAGGAAAGGGTTTAGGAACTGAACAAAGAGGAACAGCTGTGATTTCTATTAGGACTGATGAGAGCTATACACACAGAACCTGGAGAGATGGGAAATTGACAGCTCTGTGATTTGAGTTTGAAACAAGGCCATGCAGAAAGTAAGGAAAGGACCAGAGATAAGAGAGAAGACCAAAGTGGACTGGGAAGGGCTGGGGCTGAGATGAGAAAGGATGTGGTCTTGGAGTTGGAGAGAAAGTTAGGGATGGAGTTAGGGTGGGAGAAAATGAGACTGATTGGAAAGTGGGTTTGGGGAAGCAAATCAAGATGAGGAAATATATGATTCTAAGCAAGTGGCATTGTTTTCCAGGCTATGCTGGCCGCACAGAGCTTCCCGAAAATCTTAAATCCATGTTCCGCCCAATTGCCATGGTGGTGCCTGACTCCACCCTCATTGCAGAAATCATTCTCTTTGGAGAGGGCTTTGGCAACTGCAAGGTACTCCAATAACCCCTTTTCTCCAGTGATTTTAATTTCCTTTCATAATTATTCCCTGGACAGAGGAGCTCCCCAAGGGCCTCACAATCAGCTTATCCTCTAAGGAACTTAGACTATTGTCAGTAGGATGTGTGGGGAGAAAAATTTAGGGGAGGGAGGTGTCTCCTCCGTGATATCACTAACTGACAATGGCGTCATTCACACAATTTCCTCAGGAGAATCCATAGAGTGCCTCCTAGCTGCTTCATGTCCTGGGACCTGGCTTCTTGTCTCTGACTGTCCTGAGATGAAGCAGAGGGATTTGTGGGGAGATGGACTGTTTCCTCCTCTGTTTTGGTTCCCCAGATTCTGGCCAAGAAGGTGTACACACTCTACTCACTGGCTGTGCAGCAGCTGTCCAGACAGGACCACTATGACTTTGGCCTGCGTGCCCTCACCTCCCTTCTGCGCTATGCTGGCAAGAAGCGCCGCCTACAGCCGGATCTGACTGATGAAGAGGTAGAGCAAGGACACAGCCTTTGGACCTGACTTCCACTGTCACTGGACCTATGTCACTTCTCTCAAGTCTTTCAGACCCTTTCTTTCCTCAGATTGGGATTCTCACCTTCCCACCTCGTCCCATCCCCGTGTTGCCCGCTGCTTTGCTAATGGCTAACTGGTGTATCCATTGTTCTTGGCACGTGCCCCGAAGCCCTTTGGAGGTGAAAGGCCTAGGCCCTGCCTCCTCAAGCCTGAGTCTCTGTCTTTTCCCATTCAGGTTCTGCTGCTCTCAATGAGAGATATGAACATCGCCAAGCTCACTTCAGTTGATGCACCCCTGTTCAATGCCATCGTGCAAGATCTGTTTCCCAACATTGAGCTGCCTGTCATTGACTATGGCAAGGTATTTGTTCCTTAATACTCTCCCTGACCGGGTGCTGTGGCTCATGGTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACTGTTTGAGTCCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACCCTGTATCTACAAAAAGTACAAAAATTAGCCAGGCATGGTGGTGCACACGAGTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGGATTGCTTGAGCCCCAGGAGATTGAGGCTATAATGAGCTGAGATTGTGCCTCTGCACTCCAGCCTGGGTGACAGAGCAAGACCGTGTCTCAAAAAACAAAACAAAAACAAAAAAACCGCACTCTCCCTGACCACATATGTGAATATGCATCTGGGAATAGAAAACTTGGCTTCCAGTCCTTGTTCTGCCATCTACTAGCTATGACTCTGAACAAGTCAATTGACCTCTCTTTGGACTTCCTTATCTATAAAGCAATAGACTATTCAAACATTCTGCTCTCTGACCACAACTCCCTCCTCCGCTGACCTACTCAAGTGTACCTGCTCAAGTGCATCCATGCAGCAACGCTCTGACTTCATTGAAACCTCTAGTCCGTTGCCTTTGCACTTTCTCCGTGCCCATCAGTCCTCCATGCCTCTACTTCTCACCTCATCAGGGAGTTTTGAGGAGGGGCTGCTAGAAGCCATTTGGTATCAGAGAGCAGCAGAATGGAAGAGGGAGTTTTAGAAAGCATAAGAACTTTCTTCTCTGGCAGTGTGGTAGTCTAGATACCCTGAATGATCCTTTCAATTGAAACTACTAAAATGATGGATAAAAATATAATAATAACATCCTTTTTAATGCATTGCTAAGCTGGCAAGAAAGGAAGAATTCCAGGAGTTGAGGAGGGTAGGGAGTAAAAGCAGGAACCCTGGGAGGCAGGTAAGTACCAAAGCTGGCCTTCTCCCTGAAAACTGTTGTTGATCTTAAGGCAGTGAGGATAGGAGATGAAACAACCCAAGTCTGAAGATATAACAGAAGATGCAGTGCTGCATAAACCCCAGTCCCCAAGGGGCAACATCCCCAGTAGATGGAAAAACGAGA
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TCGTCATCACCCCCCTGACGGACAGGTCTGCCATGTGGGATGAATGAGGTGGCTGGGGTGGGGGGCAGCAGAAGCTGAGAGAGGCTTCCAGGAGTCTGACTCTAGTTCTGTCCTCAATTCTCAGGTGTTACATGACACTGACCACGGCATTGCACCTGCACCGAGGGGGCTCCCCCAAAGGCCCTGCAGGCACAGGCAAGACCGAGACCGTCAAGGACCTGGGCAAGGCCCTGGGCATATATGTCATTGTGGTCAACTGCTCTGAGGGCCTGGACTACAAGTCCATGGGCCGAATGTACTCAGGTCTGGCCCAGGTCAGTATCCTGCCACCCTGTGCCAGAAGCCCCTTAAATACCTTTTCGTCCCAGAAAATAAACTGAAACCCAAATCTGGTTCAGTGCTTTGTAGCTTCATGACATTGCATCACATGTAATTCTTATTTATTTATTTATTTATTTTTTGGAGTGCAGTGGCATGATCTCGGTTCACTGCAACCTTTGCCTGCTGGGTTCGGGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGACACCAAGCCCGGAGAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCACGTATAATTCTTACAACTAGGAAAGTCCCTTCCCCTTCCTGAGCTTCATGTAGCTTATTTGCAAAATCAGAAGATTATAAAGGATTAAAGAAAATAATGTGTGTTAACTGGAGCAGAGTAGACAGTGCACACAAGTTCCCTACCCCAGTCTCTTTCCAACCCACACCTTTTCTAGCATCACCCCAGATTGGCCCCATCTGATGGAAAGTTCTGGCCAGAAGCTACAACAGTGTACTCTGGTGCCCTCCTCCCTGCCCCCTAGTCTGGAGGCCGCCTCGCCTATTGAAACATTTGAAGGAAGGGTGCGTTAATCACGCTTTCTAGCCTCTTGGGGCACCTCTCGCTCCCAGTGACTCTGCCTTGCACCCCGCAGACTGGAGCTTGGGGCTGCTTTGATGAGTTTAACCGCATCAACATCGAGGTGCTGTCAGTGGTGGCCCACCAGATCCTGTGCATCCTGTCTGCCCTGGCTGCCGGCCTCACCCATTTCCATTTTGATGGCTTTGAAATAAATCTGGTGTGGTCCTGTGGGATCTTCATTACCATGAATCCTGGTAGGTGGCAGGGAGTGGATGGGACTCCTGGGGTGGGAAGAACTGGGTGTTCAGGGGAAATAACTGCGCATCCTCCTCTTCCCCCTTCCATGCGAATGTATATAGCTAAGTGAAGTCTGGCTAAAGATAGCAAAGGGGAGAGAAGGATAAACACAACTTTCCGGGAGAAGGGGAAGCAATCTTACTGTTTTCCCCAAAGGGATTAATAACCACTTATGTGTGTATATGTAGCCCTCATCTTTTAAGATACTTAGCTTTCTTCTCCCTTTAGGCTAGCTCCAAGAGTTCTGGTCTCTCTGCCATCTCTTTTGCAGCAGGCTCTAGGGTCTCTCATTACTGTTTCCTAGGAACAACTCTGGGGGAAGGGTCTAGGACAGCACAGGGATAGGAAAGGGTTTAGGAACTGAACAAAGAGGAACAGCTGTGATTTCTATTAGGACTGATGAGAGCTATACACACAGAACCTGGAGAGATGGGAAATTGACAGCTCTGTGATTTGAGTTTGAAACAAGGCCATGCAGAAAGTAAGGAAAGGACCAGAGATAAGAGAGAAGACCAAAGTGGACTGGGAAGGGCTGGGGCTGAGATGAGAAAGGATGTGGTCTTGGAGTTGGAGAGAAAGTTAGGGATGGAGTTAGGGTGGGAGAAAATGAGACTGATTGGAAAGTGGGTTTGGGGAAGCAAATCAAGATGAGGAAATATATGATTCTAAGCAAGTGGCATTGTTTTCCAGGCTATGCTGGCCGCACAGAGCTTCCCGAAAATCTTAAATCCATGTTCTGCCCAATTGCCATGGTGGTGCCTGACTCCACCCTCATTGCAGAAATCATTCTCTTTGGAGAGGGCTTTGGCAACTGCAAGGTACTCCAATAACCCCTTTTCTCCAGTGATTTTAATTTCCTTTCATAATTATTCCCTGGACAGAGGAGCTCCCCAAGGGCCTCACAATCAGCTTATCCTCTAAGGAACTTAGACTATTGTCAGTAGGATGTGTGGGGAGAAAAATTTAGGGGAGGGAGGTGTCTCCTCCGTGATATCACTAACTGACAATGGCGTCATTCACACAATTTCCTCAGGAGAATCCATAGAGTGCCTCCTAGCTGCTTCATGTCCTGGGACCTGGCTTCTTGTCTCTGACTGTCCTGAGATGAAGCAGAGGGATTTGTGGGGAGATGGACTGTTTCCTCCTCTGTTTTGGTTCCCCAGATTCTGGCCAAGAAGGTGTACACACTCTACTCACTGGCTGTGCAGCAGCTGTCCAGACAGGACCACTATGACTTTGGCCTGCGTGCCCTCACCTCCCTTCTGCGCTATGCTGGCAAGAAGCGCCGCCTACAGCCGGATCTGACTGATGAAGAGGTAGAGCAAGGACACAGCCTTTGGACCTGACTTCCACTGTCACTGGACCTATGTCACTTCTCTCAAGTCTTTCAGACCCTTTCTTTCCTCAGATTGGGATTCTCACCTTCCCACCTCGTCCCATCCCCGTGTTGCCCGCTGCTTTGCTAATGGCTAACTGGTGTATCCATTGTTCTTGGCACGTGCCCCGAAGCCCTTTGGAGGTGAAAGGCCTAGGCCCTGCCTCCTCAAGCCTGAGTCTCTGTCTTTTCCCATTCAGGTTCTGCTGCTCTCAATGAGAGATATGAACATCGCCAAGCTCACTTCAGTTGATGCACCCCTGTTCAATGCCATCGTGCAAGATCTGTTTCCCAACATTGAGCTGCCTGTCATTGACTATGGCAAGGTATTTGTTCCTTAATACTCTCCCTGACCGGGTGCTGTGGCTCATGGTTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACTGTTTGAGTCCAGGAGTTTGAGACTAGCCTGGGCAACATGGTGAAACCCTGTATCTACAAAAAGTACAAAAATTAGCCAGGCATGGTGGTGCACACGAGTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGGATTGCTTGAGCCCCAGGAGATTGAGGCTATAATGAGCTGAGATTGTGCCTCTGCACTCCAGCCTGGGTGACAGAGCAAGACCGTGTCTCAAAAAACAAAACAAAAACAAAAAAACCGCACTCTCCCTGACCACATATGTGAATATGCATCTGGGAATAGAAAACTTGGCTTCCAGTCCTTGTTCTGCCATCTACTAGCTATGACTCTGAACAAGTCAATTGACCTCTCTTTGGACTTCCTTATCTATAAAGCAATAGACTATTCAAACATTCTGCTCTCTGACCACAACTCCCTCCTCCGCTGACCTACTCAAGTGTACCTGCTCAAGTGCATCCATGCAGCAACGCTCTGACTTCATTGAAACCTCTAGTCCGTTGCCTTTGCACTTTCTCCGTGCCCATCAGTCCTCCATGCCTCTACTTCTCACCTCATCAGGGAGTTTTGAGGAGGGGCTGCTAGAAGCCATTTGGTATCAGAGAGCAGCAGAATGGAAGAGGGAGTTTTAGAAAGCATAAGAACTTTCTTCTCTGGCAGTGTGGTAGTCTAGATACCCTGAATGATCCTTTCAATTGAAACTACTAAAATGATGGATAAAAATATAATAATAACATCCTTTTTAATGCATTGCTAAGCTGGCAAGAAAGGAAGAATTCCAGGAGTTGAGGAGGGTAGGGAGTAAAAGCAGGAACCCTGGGAGGCAGGTAAGTACCAAAGCTGGCCTTCTCCCTGAAAACTGTTGTTGATCTTAAGGCAGTGAGGATAGGAGATGAAACAACCCAAGTCTGAAGATATAACAGAAGATGCAGTGCTGCATAAACCCCAGTCCCCAAGGGGCAACATCCCCAGTAGATGGAAAAACGAGA
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Task1_train_23630
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Given this variant in gene DNAH2 (dynein axonemal heavy chain 2) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Spermatogenic failure 45
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CACCAAGTGTATCACATTATCTGTGGTCCTAGGTATCTTAATTCACAACCCATCCTCAAGCGCTCTCCACCCACGGGCCTGTGTCTGCTTTGCATAGTAAAGCAGACTATCCCTTTGCCAGGGATGGTTTGAAGGATGCCGAGTTTGCTGTCTGTGGTCTCCAAGAGGCCTGAGAGAGGTGGGATGGCCCCATGTGCTCCATGCGCCCAGTCAGAAGAAAGATATCTGTCACGTGCCCTCTGGGCAGGGGGTTGAGAGCATGGGCTCTAAATATGCTCTTTCCATTATTAAGTTGGTACATTTTACATTTTATCTTTTTGGAGATAGGGTCTCACTCTGTTGCCCAAGCTGAGTGCTGTGGTGTGATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAACAATTCTCCTGTCTCCTGAGTAGCTGGGACCGCAGGCGTGCGCCATCACACCCAGCTAATTTTTGATTATTTCTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGACTCAAGTGATCCTCCTGCCTCAGCCTCTCAAAGTGCTGGGACTAGAGGCATGAGCCACCACACCAGGCCACATTTTACATTTTAATTTTTAATTACACAGATAATTGTTGAATCAAGTTCCCTTTCTGAAAATAATAATTTTTCATATAAAGCTAAAGTCCTTTTTGTTCCCCTCTCTCCTCCCAGTCCTGATCTGCTCCTCACTCCACACAAGTAACTACTGTAGTATGTTTGTGTATGTCATTCCAGACCTCTTTTTTAATTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTTACCAAGGCTGGAATGGCATGATCAGGGCTCACTGCAGCCTCAACATTCTGGGCTCAAGTGATCCTCCCACCTCAGTCTCCTGAGTAGCTGAGATTACAGATGCACACCACCATGCCTGGCTTTGTTGTTGTTGTTGTTGTTGAGACAGGTTTCACTATGTTATTCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATACTCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCATGTCTGGCCTAGGCCTTTTTAAAGGTACACCTTTACCTATAATACCATGGGTATCCATAGAAAATATGTTTTTTGTTTTTTTTTTTGTTTTTGGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGCGCAGCGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTAACAGGCACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCAGGTGATCCACGCGGCTCTGCCTCCCTAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGACTGAAAATGTGGTATTTTTTTTTAAAACTATATCATGCTATATACTGCAACATGTCCGTTAAATTAACAATATGTTTTTGAGTTCTGTATTACTACACGTAGATTCATTTCATTGCTTTAACTGCTATATACTATTCCATGATAGAACACTACATTTTATTTTTCCACTGCTCTACTGGTGAACATTTCAGTCATCTCCAGTGTTTTGCAATTACAAACAAGTCACTATGAATGTTCCGGGACCTGTCTCCTGAGCACCCTTGGTTGCTTTTCCAGGGCAGGCCTGTTGTGGCCAGATGATGGCTGCATCTTCATGAGTTAGCAGTGAGGAAGCTCAGGGCAACTGCTGAGCTATAAGAAATTTCAGGTTTGTCTGTCTTTCAGCAGGTTGTAGATAAACATCCACATTTGGAAAACTGTGCGATTTTCCAAATAGAGCCAGGGAAGGAGGAAGACCCAGGCTTTCCACACTCTGGTGTCACGAGTCTGCCAGATGGACCCCTGGTCTCTTACAGGTGGGTTATTTCCTCTTCTCGTTCTCCATCCAGGTGAACCCAGCTGACGGCGAGAACTATGTCACCATGGTAGAGATGACATTTGTGTTCAGCATGATCTGGTCTGTGTGTGCCTCTGTGGATGAGGAGGGCCGGAAGAGGATCGACAGCTACCTCCGAGAGATCGAGGGCTCCTTTCCCAATAAGGTTGGGCGCACACCTGGCTGTCCTATTTGCCCTGTTTTTCCAGACCCCCTGGGCATCCCCCATCTCAGGCTCTGCTTGGGTTTCCCTCTCTCTTTCTTCCACCCGGTGGTCTGGGGCCCGTTCTCTGGGCTGGAGAAGGCTCAAGGAAGGCTTTGGTAACCTGACCTACATGCCCTCCTTAGGACACGGTATATGAGTATTTTGTGGACCCCAAAATACGGAGTTGGACATCATTTGAGGACAAGCTCCCTAAGAGTTGGCGCTACCCTCCAAAGTAAGAGCTGGGCCTGGGTGTGAGGAGGGCATGGGGCAGCGGTAGGTGGGGGATGTGGCAAGAGAGATGGGGCCTAGAAGCAAAAATGAGCAATAGGAAGGAGAAGGTGGGTCCCAGAGAAGGGCTGCCTCTTGAGGACAGGAAGCGGGACCTAGAGGGCTTGGGACAGGGTCTCTGAGGGGAGCACATGATCCCCAGGCCCCACAGGAGGGCAGGGTGCTGATGAGACAGTGGTGACGTAGAGGGAAAGGAAGTGGGAGTTGGAAAGGAGTGGGCGGCTGGTCCTTGAGAGCCGGCCCCTGCTCTTCCCTAGCGCCCCCTTCTATAAGATCATGGTGCCCACCGTCGACACTGTTCGCTACAACTACCTGGTGAGCAGCTTGGTGGCCAACCAGAATCCCATTCTGCTGGTGGGTCCCGTGGGGACTGGGAAGACCTCCATCGCCCAGAGCGTTCTGCAGTCCCTGCCCTCCAGCCAGTGGTCGGTGCTCGTTGTCAACATGTCCGCACAGGTGTGTCGGGGATCCAGGGGCCAGGCTGCCGGCTCCCTTGGGATCCAAGTGCCTGCCTGACCCTCCTCTCTAAGCCCGTATTTCTCTCAGGGGACCCACACATTCATTCGGTACCTTTTCACCAGACCACATCCAATAACGTGCAGAGCATCATTGAGAGCAGGGTTGAGAAGCGAACCAAGGGTGTCTACGTGCCATTCGGGGGCAAAAGCATGATCACCTTTATGGATGACCTAAATATGCCCGCTAAGGACATGTTTGGGTCCCAGCCACCCCTGGAGCTGATCCGCCTCTGGATTGACTATGGCTTCTGGTATGACCGTACGAAGCAGACCATCAAGTACATTCGAGTAAGCCTCGCTAGAGTCTGTTCTTCAGGCCTCTGCTCCTTCTGGGATAGGCTCAGTCCCCACTCCACTGGGGCCCCAGGCTATGGTCCTGTCATCTTGGATTCCTTCCCACACAGGAGCGTCCTTCTCCATGACAGCAGTTCTCGGCTCCCCACTCACGAGCCAGGCATCCTCCCTCAGTCCTGGCTCCTTCGTGGGATTCTGAGCATATTGTTTGCCTGCTTGCTTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTCTTTCTCTTTCTTTCTTTTTCTTTCTTCTCTTTCTTTCTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCAGACAGCATCTTGCTATGTTGCCAAGGCTGGGGTGCCGGGTTAATTTTATGATTTTTAGTGGACACAAGGTCCCCATATGTTGGCCAGGCTGGTTTTGAACTCCTGGGCTCAAGAGATCCTCCCATCTTGGCCTCCCAAAGTGTTGGCATTACAGGCCTGAGCCATGCTCCCGGCTGCTTCTCTTTAATCAGCGGCCATCGCGGCCTGGCTCCTGGGGTTGTTTGTGTGTATATCTGGCACTCAGGGCCAAAAACTCGCCTAGTGCTATATTCATGTGTGTTTGAGAGAGAACATACACACACACGTGTATAGATAGGTACAATTTTAAAAGAAGAAAAAGAGAAAAAGAAGAAAGAGAAAGTCTAGAAGACACAAATGTTTTTTTACTTACCTGTATTTTCTCATTTGGGTACATGGATTATAAGGATGAAATAC
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CACCAAGTGTATCACATTATCTGTGGTCCTAGGTATCTTAATTCACAACCCATCCTCAAGCGCTCTCCACCCACGGGCCTGTGTCTGCTTTGCATAGTAAAGCAGACTATCCCTTTGCCAGGGATGGTTTGAAGGATGCCGAGTTTGCTGTCTGTGGTCTCCAAGAGGCCTGAGAGAGGTGGGATGGCCCCATGTGCTCCATGCGCCCAGTCAGAAGAAAGATATCTGTCACGTGCCCTCTGGGCAGGGGGTTGAGAGCATGGGCTCTAAATATGCTCTTTCCATTATTAAGTTGGTACATTTTACATTTTATCTTTTTGGAGATAGGGTCTCACTCTGTTGCCCAAGCTGAGTGCTGTGGTGTGATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAACAATTCTCCTGTCTCCTGAGTAGCTGGGACCGCAGGCGTGCGCCATCACACCCAGCTAATTTTTGATTATTTCTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGACTCAAGTGATCCTCCTGCCTCAGCCTCTCAAAGTGCTGGGACTAGAGGCATGAGCCACCACACCAGGCCACATTTTACATTTTAATTTTTAATTACACAGATAATTGTTGAATCAAGTTCCCTTTCTGAAAATAATAATTTTTCATATAAAGCTAAAGTCCTTTTTGTTCCCCTCTCTCCTCCCAGTCCTGATCTGCTCCTCACTCCACACAAGTAACTACTGTAGTATGTTTGTGTATGTCATTCCAGACCTCTTTTTTAATTTTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTTACCAAGGCTGGAATGGCATGATCAGGGCTCACTGCAGCCTCAACATTCTGGGCTCAAGTGATCCTCCCACCTCAGTCTCCTGAGTAGCTGAGATTACAGATGCACACCACCATGCCTGGCTTTGTTGTTGTTGTTGTTGTTGAGACAGGTTTCACTATGTTATTCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATACTCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCATGTCTGGCCTAGGCCTTTTTAAAGGTACACCTTTACCTATAATACCATGGGTATCCATAGAAAATATGTTTTTTGTTTTTTTTTTTGTTTTTGGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGCGCAGCGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTAACAGGCACCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCAGGTGATCCACGCGGCTCTGCCTCCCTAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGACTGAAAATGTGGTATTTTTTTTTAAAACTATATCATGCTATATACTGCAACATGTCCGTTAAATTAACAATATGTTTTTGAGTTCTGTATTACTACACGTAGATTCATTTCATTGCTTTAACTGCTATATACTATTCCATGATAGAACACTACATTTTATTTTTCCACTGCTCTACTGGTGAACATTTCAGTCATCTCCAGTGTTTTGCAATTACAAACAAGTCACTATGAATGTTCCGGGACCTGTCTCCTGAGCACCCTTGGTTGCTTTTCCAGGGCAGGCCTGTTGTGGCCAGATGATGGCTGCATCTTCATGAGTTAGCAGTGAGGAAGCTCAGGGCAACTGCTGAGCTATAAGAAATTTCAGGTTTGTCTGTCTTTCAGCAGGTTGTAGATAAACATCCACATTTGGAAAACTGTGCGATTTTCCAAATAGAGCCAGGGAAGGAGGAAGACCCAGGCTTTCCACACTCTGGTGTCACGAGTCTGCCAGATGGACCCCTGGTCTCTTACAGGTGGGTTATTTCCTCTTCTCGTTCTCCATCCAGGTGAACCCAGCTGACGGCGAGAACTATGTCACCATGGTAGAGATGACATTTGTGTTCAGAATGATCTGGTCTGTGTGTGCCTCTGTGGATGAGGAGGGCCGGAAGAGGATCGACAGCTACCTCCGAGAGATCGAGGGCTCCTTTCCCAATAAGGTTGGGCGCACACCTGGCTGTCCTATTTGCCCTGTTTTTCCAGACCCCCTGGGCATCCCCCATCTCAGGCTCTGCTTGGGTTTCCCTCTCTCTTTCTTCCACCCGGTGGTCTGGGGCCCGTTCTCTGGGCTGGAGAAGGCTCAAGGAAGGCTTTGGTAACCTGACCTACATGCCCTCCTTAGGACACGGTATATGAGTATTTTGTGGACCCCAAAATACGGAGTTGGACATCATTTGAGGACAAGCTCCCTAAGAGTTGGCGCTACCCTCCAAAGTAAGAGCTGGGCCTGGGTGTGAGGAGGGCATGGGGCAGCGGTAGGTGGGGGATGTGGCAAGAGAGATGGGGCCTAGAAGCAAAAATGAGCAATAGGAAGGAGAAGGTGGGTCCCAGAGAAGGGCTGCCTCTTGAGGACAGGAAGCGGGACCTAGAGGGCTTGGGACAGGGTCTCTGAGGGGAGCACATGATCCCCAGGCCCCACAGGAGGGCAGGGTGCTGATGAGACAGTGGTGACGTAGAGGGAAAGGAAGTGGGAGTTGGAAAGGAGTGGGCGGCTGGTCCTTGAGAGCCGGCCCCTGCTCTTCCCTAGCGCCCCCTTCTATAAGATCATGGTGCCCACCGTCGACACTGTTCGCTACAACTACCTGGTGAGCAGCTTGGTGGCCAACCAGAATCCCATTCTGCTGGTGGGTCCCGTGGGGACTGGGAAGACCTCCATCGCCCAGAGCGTTCTGCAGTCCCTGCCCTCCAGCCAGTGGTCGGTGCTCGTTGTCAACATGTCCGCACAGGTGTGTCGGGGATCCAGGGGCCAGGCTGCCGGCTCCCTTGGGATCCAAGTGCCTGCCTGACCCTCCTCTCTAAGCCCGTATTTCTCTCAGGGGACCCACACATTCATTCGGTACCTTTTCACCAGACCACATCCAATAACGTGCAGAGCATCATTGAGAGCAGGGTTGAGAAGCGAACCAAGGGTGTCTACGTGCCATTCGGGGGCAAAAGCATGATCACCTTTATGGATGACCTAAATATGCCCGCTAAGGACATGTTTGGGTCCCAGCCACCCCTGGAGCTGATCCGCCTCTGGATTGACTATGGCTTCTGGTATGACCGTACGAAGCAGACCATCAAGTACATTCGAGTAAGCCTCGCTAGAGTCTGTTCTTCAGGCCTCTGCTCCTTCTGGGATAGGCTCAGTCCCCACTCCACTGGGGCCCCAGGCTATGGTCCTGTCATCTTGGATTCCTTCCCACACAGGAGCGTCCTTCTCCATGACAGCAGTTCTCGGCTCCCCACTCACGAGCCAGGCATCCTCCCTCAGTCCTGGCTCCTTCGTGGGATTCTGAGCATATTGTTTGCCTGCTTGCTTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTCTTTCTCTTTCTTTCTTTTTCTTTCTTCTCTTTCTTTCTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCAGACAGCATCTTGCTATGTTGCCAAGGCTGGGGTGCCGGGTTAATTTTATGATTTTTAGTGGACACAAGGTCCCCATATGTTGGCCAGGCTGGTTTTGAACTCCTGGGCTCAAGAGATCCTCCCATCTTGGCCTCCCAAAGTGTTGGCATTACAGGCCTGAGCCATGCTCCCGGCTGCTTCTCTTTAATCAGCGGCCATCGCGGCCTGGCTCCTGGGGTTGTTTGTGTGTATATCTGGCACTCAGGGCCAAAAACTCGCCTAGTGCTATATTCATGTGTGTTTGAGAGAGAACATACACACACACGTGTATAGATAGGTACAATTTTAAAAGAAGAAAAAGAGAAAAAGAAGAAAGAGAAAGTCTAGAAGACACAAATGTTTTTTTACTTACCTGTATTTTCTCATTTGGGTACATGGATTATAAGGATGAAATAC
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Task1_train_23631
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The gene DNAH2 (dynein axonemal heavy chain 2) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Spermatogenic failure 45
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CGGAAGGCTGGCTGTACTTCACTTCTGACACCAGATGTGGTGGGGATTTTCCCCACCCAAGCAGTTCTCCAGGGGACACTGGCTGGGTGTCCTATGATATAACTCAAGTCTGAAATGGTCTACCTGGAGTTAGAGTCAGATCGCACAGGTGGAGGGCTCAGTCCCACAATACACCCGCCGCTTCTGATGCTAACCGAAAGCCCAGTGTTTTACCTGTGTTTCTGCCTGGCCGGTTATAAATCAAGGGTTCCCACCACCCCCTTGTCAGGTTCAGTTAATTTGCTAGAGTGGCTCACAGAACTCAGGAAACACTTCACCTACTATTGCTGATTTATTGCAAAGGATATTTTAAAAGATACAAATAAGGCTGGGCACGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCGATCACTTGAGGTCAGGAGTTCAAGAACAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAATACAAAAATTAGCCAGGCATGATGGCGGGTGCCTGTAATGCCAGCTACTGGGGAGGCTGAGGCGGGAGAATCATTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCATCATTGCACTCCAGCCTGGGTGACAGATCGAGACTCCGTCTCAAAAAAAAAAATCAGAAATTGTGGGGCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCTGAGGTGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAAAATAACAAGACGCCATCTCTACAAAAAAAGAAAGAGAGAGAGAGAGCAATAAATTGTTGCAATACTGGGCCCACATTCATTCCCATAGGGAAAAAAAACCAGGCTGGAGCTGAGGGACGGCTGCCTGCCCTGGGCCAGCCCACCTGCCTGTTCCACAGTGGGAAACAGAGGAAGATTCTCATGTAGGGGAGGTGGTGTGATGGAGACTGTTTAACAAGCTGATTCTGGTAGTGGTGTGTAGAACAAACCAGAGGAATGAGAGCCTGAAATCAAGAAGAGCCCTTGGGAAGCTGTTGGCAATGACCCAGGCAGGAAGTGATAGAATCCCGACCAGGATGGTGGGGGTAGTGTTGGTGGCAACAGAAAGGAAGGCGGACTCGAGACACACGGGGAAGGTGGACCTTACAGGACACCGCGCTTTCCGGAAGCCCCGCCTCTCCACACCCTGTCCTATTCTTTCCCCCAGGTTGCTGGGAGAAAAACGGCAGGAGCTGCTGGCCCAAGCCAATAAACTGCGGACAGGCTTGTTCAAGATCGACGAAACTAGGGAAAAGGTGCAAGTGATGTCGTTGGAGCTGGAGGATGCCAAGAAGAAGGTGGCTGAGTTCCAGAAGCAGTGTGAGGAGTACCTGGTCATCATTGTGCAGCAGAAGCGGGAGGCAGATGAGCAGCAGAAGGTCCAGGGCCCACGCCCACCCCCCGTGCCCCACTCCCACCAGTGCCGGCTACTGCGTCAGGGAACCCATGTTCCCCCCTTCTTAAATTTTCTTTAGTGACTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACCTGAGGTCAGGAGTTCGAGACCAACTTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAGATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCTGGGGGCGGAGGTTGCAGTGAACTGAGATTGCACCACTGCACTCCAGCCTGGGCGAAAGAGCTAGACTCCATCTCAAAAAAAAAAAAAAATTCTTTAGCTTTCTCTTTCATCTTTTCCACCAACACCGTCACTCCCACCTTTGCCCAAGGCAAAGACAAAAAACCCTTGTCCTTTTTTCATCCCTAGGCCGTAACAGCCAACAGTGAAAAGATTGCAGTTGAGGAAATCAAGTGTCAGGCACTGGCTGACAATGCCCAGAAAGATCTAGAAGAGGCACTGCCCGCCCTGGAAGAGGCCATGCGGGTACCAGGGGCGGGTGCAAGGATGGGAGCCAGGAACGCGAGGCCCCGGGGAAGGGAATGGGCCAGTCTTCTTTGTCCTCAAAGACTCTGGGGAAGTGGGAAGAAGAGGTGGCACCTCAGCTAGGTTCTGTCTCCAGAAGGTCCTGTCTTACCCTCACTTTATCCCCTTTTCCCCCAGGCCCTGGAGTCTCTGAACAAGAAGGATATAGGAGAGATCAAGTCTTATGGACGGCCCCCAGCCCAAGTGGAGATAGTGATGCAGGCAGTTATGATTCTTCGAGGCAACGAGCCCACATGGGCAGAGGCCAAGAGGCAGCTAGGTAAGCTAGAGACAATGAAATCAATGACTTCCACTCACCCAGTGTTTATTGATCGTCGGCTGTGCAGCAGACACTCAGAAAGATAGGGATGGATGAGGCATTGTTCTTACCCTCAAGAGCACAGGGCCTAGTAGAAAGGAGACCGCATGAATATCAGTTAAGGTTCTTTGGTTGTGGGTCGAGTGTGGTGGTTCATGCCTGTAAACCCAAGCTTTGGGAGGGCAAGGTGGGCAGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGACGAAAACCCATCTCTACAAAAAAAAATGCAAAAATTAGCTGGGCATGATGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGTTTAAACCTGGAAGGCTGAGGCTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGAGACAGAGCCAGACCCTGTCTCCAAAGAAAAAAAAAGATTATTTAGTTGTTACTGGTATTTTCTGACTTTTTACAAAGTTACCTATTTCTTTTCACTAAAAAGAGAAAAAGAAAAAACTACATTTCTGATTGCTTTTATAATTATTAAATATGAAATTTTTAAAAAGATTATTTGGTTGTAAGTAACAGAAAACAGCTCATCTTAATACTGACATTCAGCTTACAATGGTTTGACTTAAGATTTTTCGTCTTTACAATGGTACCCATACAATCATTCTGTTTTTCACTTTCAGTACAGTGTTCAATACATTACATGAGATATTCAACACTTTGTTATAAAATAGACTTTGTGTTAGATGATTTTGCCCAACTGTAGGCTTAATGTAAGTGCTCTGAGCACGTCTAAGTTAGGCTGGGATGAATTATGACATTCAGTAGGTTAGATGCATTAAATGCATTTTTGATTTACCATATTTTCAATGTATGATGGGCTTATCGGGAGCATCTGTATATTAACCAAAATTGTCCTAAAGATAGAAGAATGGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTACAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAATCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCACCTCTGCACTCCAGCCTGGGCAACAGAGCGACACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGATAGAAGAATGTATTGCTGCATCCAAGGGCAGGAATGCCCTCAGGCCCCCAGAGGGGAACAAGAATCAGAAAATGGGAACCGGGACTCTGTGTTCCATTCTTGTGGTTTACTCTGCTCTGGGTTCCCATAGTAGAATACAGCCTGCCAGTCTCGGTTTGGTGATCCCTGCCCTAGAAGAAAGTGCAAAGCAGAGAGAAAAAAAGTGAAGTGTAGGGTGGCTTGGCTGAGTGTTCAAGGTAAGTGATGAGAGAGGAGCTGGGAAGATTGTCGAGGACCTTGGGGACTGAGAGGTGCCCAGAGACAGAGTCAAGTCAGAGGGAGGAACTAGGGGCCAGGTCAGATAATTTGGCCTTAGGAACTGAGCCCAGGAAAAATGTGGCTATGCGTGAGTAGTGGAGGTGAAACTGCTGGACAAGGAGGATGGCATTAAGCCTC
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CGGAAGGCTGGCTGTACTTCACTTCTGACACCAGATGTGGTGGGGATTTTCCCCACCCAAGCAGTTCTCCAGGGGACACTGGCTGGGTGTCCTATGATATAACTCAAGTCTGAAATGGTCTACCTGGAGTTAGAGTCAGATCGCACAGGTGGAGGGCTCAGTCCCACAATACACCCGCCGCTTCTGATGCTAACCGAAAGCCCAGTGTTTTACCTGTGTTTCTGCCTGGCCGGTTATAAATCAAGGGTTCCCACCACCCCCTTGTCAGGTTCAGTTAATTTGCTAGAGTGGCTCACAGAACTCAGGAAACACTTCACCTACTATTGCTGATTTATTGCAAAGGATATTTTAAAAGATACAAATAAGGCTGGGCACGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCGATCACTTGAGGTCAGGAGTTCAAGAACAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAATACAAAAATTAGCCAGGCATGATGGCGGGTGCCTGTAATGCCAGCTACTGGGGAGGCTGAGGCGGGAGAATCATTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCATCATTGCACTCCAGCCTGGGTGACAGATCGAGACTCCGTCTCAAAAAAAAAAATCAGAAATTGTGGGGCAGGTGCAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCTGAGGTGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAAAATAACAAGACGCCATCTCTACAAAAAAAGAAAGAGAGAGAGAGAGCAATAAATTGTTGCAATACTGGGCCCACATTCATTCCCATAGGGAAAAAAAACCAGGCTGGAGCTGAGGGACGGCTGCCTGCCCTGGGCCAGCCCACCTGCCTGTTCCACAGTGGGAAACAGAGGAAGATTCTCATGTAGGGGAGGTGGTGTGATGGAGACTGTTTAACAAGCTGATTCTGGTAGTGGTGTGTAGAACAAACCAGAGGAATGAGAGCCTGAAATCAAGAAGAGCCCTTGGGAAGCTGTTGGCAATGACCCAGGCAGGAAGTGATAGAATCCCGACCAGGATGGTGGGGGTAGTGTTGGTGGCAACAGAAAGGAAGGCGGACTCGAGACACACGGGGAAGGTGGACCTTACAGGACACCGCGCTTTCCGGAAGCCCCGCCTCTCCACACCCTGTCCTATTCTTTCCCCCAGGTTGCTGGGAGAAAAACGGCAGGAGCTGCTGGCCCAAGCCAATAAACTGCGGACAGGCTTGTTCAAGATCGACGAAACTAGGGAAAAGGTGCAAGTGATGTCGTTGGAGCTGGAGGATGCCAAGAAGAAGGTGGCTGAGTTCCAGAAGCAGTGTGAGGAGTACCTGGTCATCATTGTGCAGCAGAAGCGGGAGGCAGATGAGCAGCAGAAGGTCCAGGGCCCACGCCCACCCCCCGTGCCCCACTCCCACCAGTGCCGGCTACTGCGTCAGGGAACCCATGTTCCCCCCTTCTTAAATTTTCTTTAGTGACTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACCTGAGGTCAGGAGTTCGAGACCAACTTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAGATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCTGGGGGCGGAGGTTGCAGTGAACTGAGATTGCACCACTGCACTCCAGCCTGGGCGAAAGAGCTAGACTCCATCTCAAAAAAAAAAAAAAATTCTTTAGCTTTCTCTTTCATCTTTTCCACCAACACCGTCACTCCCACCTTTGCCCAAGGCAAAGACAAAAAACCCTTGTCCTTTTTTCATCCCTAGGCCGTAACAGCCAACAGTGAAAAGATTGCAGTTGAGGAAATCAAGTGTCAGGCACTGGCTGACAATGCCCAGAAAGATCTAGAAGAGGCACTGCCCGCCCTGGAAGAGGCCATGTGGGTACCAGGGGCGGGTGCAAGGATGGGAGCCAGGAACGCGAGGCCCCGGGGAAGGGAATGGGCCAGTCTTCTTTGTCCTCAAAGACTCTGGGGAAGTGGGAAGAAGAGGTGGCACCTCAGCTAGGTTCTGTCTCCAGAAGGTCCTGTCTTACCCTCACTTTATCCCCTTTTCCCCCAGGCCCTGGAGTCTCTGAACAAGAAGGATATAGGAGAGATCAAGTCTTATGGACGGCCCCCAGCCCAAGTGGAGATAGTGATGCAGGCAGTTATGATTCTTCGAGGCAACGAGCCCACATGGGCAGAGGCCAAGAGGCAGCTAGGTAAGCTAGAGACAATGAAATCAATGACTTCCACTCACCCAGTGTTTATTGATCGTCGGCTGTGCAGCAGACACTCAGAAAGATAGGGATGGATGAGGCATTGTTCTTACCCTCAAGAGCACAGGGCCTAGTAGAAAGGAGACCGCATGAATATCAGTTAAGGTTCTTTGGTTGTGGGTCGAGTGTGGTGGTTCATGCCTGTAAACCCAAGCTTTGGGAGGGCAAGGTGGGCAGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGACGAAAACCCATCTCTACAAAAAAAAATGCAAAAATTAGCTGGGCATGATGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGTTTAAACCTGGAAGGCTGAGGCTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGAGACAGAGCCAGACCCTGTCTCCAAAGAAAAAAAAAGATTATTTAGTTGTTACTGGTATTTTCTGACTTTTTACAAAGTTACCTATTTCTTTTCACTAAAAAGAGAAAAAGAAAAAACTACATTTCTGATTGCTTTTATAATTATTAAATATGAAATTTTTAAAAAGATTATTTGGTTGTAAGTAACAGAAAACAGCTCATCTTAATACTGACATTCAGCTTACAATGGTTTGACTTAAGATTTTTCGTCTTTACAATGGTACCCATACAATCATTCTGTTTTTCACTTTCAGTACAGTGTTCAATACATTACATGAGATATTCAACACTTTGTTATAAAATAGACTTTGTGTTAGATGATTTTGCCCAACTGTAGGCTTAATGTAAGTGCTCTGAGCACGTCTAAGTTAGGCTGGGATGAATTATGACATTCAGTAGGTTAGATGCATTAAATGCATTTTTGATTTACCATATTTTCAATGTATGATGGGCTTATCGGGAGCATCTGTATATTAACCAAAATTGTCCTAAAGATAGAAGAATGGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTACAAAATACAAAAAAATTAGCCGGGTGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAATCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCACCTCTGCACTCCAGCCTGGGCAACAGAGCGACACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGATAGAAGAATGTATTGCTGCATCCAAGGGCAGGAATGCCCTCAGGCCCCCAGAGGGGAACAAGAATCAGAAAATGGGAACCGGGACTCTGTGTTCCATTCTTGTGGTTTACTCTGCTCTGGGTTCCCATAGTAGAATACAGCCTGCCAGTCTCGGTTTGGTGATCCCTGCCCTAGAAGAAAGTGCAAAGCAGAGAGAAAAAAAGTGAAGTGTAGGGTGGCTTGGCTGAGTGTTCAAGGTAAGTGATGAGAGAGGAGCTGGGAAGATTGTCGAGGACCTTGGGGACTGAGAGGTGCCCAGAGACAGAGTCAAGTCAGAGGGAGGAACTAGGGGCCAGGTCAGATAATTTGGCCTTAGGAACTGAGCCCAGGAAAAATGTGGCTATGCGTGAGTAGTGGAGGTGAAACTGCTGGACAAGGAGGATGGCATTAAGCCTC
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Task1_train_23632
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Given this variant in gene DNAH2 (dynein axonemal heavy chain 2) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Spermatogenic failure 45
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AGTAGCTGGGACTACAGGCCTGCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAGAGGCGGGGTCCCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCGGCCTGAGAGGTCCTTTTAAAGTGGATGCCATTGTGACGGGCTCCCCATGGCTGGCGCCACCTCCCACCACACAGCCCCCACTCCACTCCAGCCACGCAGGCCTCATTGCCCTCCCCAAACCCCCTGGCACGTCTCGCCTCAGGGCCTTTGCGTGGCCATGCCTTCTGCTGGAAGCCTACTCCCCGGCGTGTGCACCTGGCCATCTCTCACCTCCTTCAGACCTCACCTCAATGCGACCTTGATCTTCTTATTTAATACTTCAAACTACCCCTCAACACTCTCAGTCTCCCTTACCCTCCTCAGAGTATCCTATTTTTCCTTGGCACTGCCGTCTTTGCTATACTAGATAATTTACTTATTTGTTATGTTTTTGGTTCATAATCTGCCCATGAATTCACAATCCCATGTTAGAAAATAAAATCCCCAAGGGCAGATATATTTGTCCATTTTGCTCAGTAATGCATCCCAATGATTAAAATGCATAGTTGGCGAACAATAAATATTTGTTAAGAAGAATGAATAAGCAAGTGAGTGAATGAATGAGTAAATAGTTTGTGCTTCTGTGAAGGTGAGGCTACCAACCAGTCATTAGGTTGGAGACATTATTACCAGGCAACCAGCAGAGGGCGCCAGCTTCCTAAATTTGAACTGTGAGGGCTAAGGGCAGGGTCTGAGTCCTAGCCCCCACGTTTATTCCCCAGGATCCCTGTATTCATCTCTTCACTCTCATACAAAAGCCATTTTGGGCTGGGCGCGGTGGCTGACACCTGTAATCCCAGTACTTTGGGAGGCCGAGGAGGATGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTGTCTACTAAAAATACAATAATTAGCCAGGTGTGGTGGCGAGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGGGTCAGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCACTCTGGCCTAGGTGACAAGAATAAGACTCCATCTCAAAAAAAAAAAAAAAATTCCATTTGGTTTTCCCACCGAGAGAGAGAAAAATACAGAGAGAGAGAGAGAGAGAGAGAGGAGAAAAAGATCACTCTTCTTTTGAAGTATTCCCAAGTCAATCCCTTTCTTCCTCCCCTTCTCCCACCAGGTCTTGGATCGGGAGGGCCAAATGGACAATCCATGTAGTAGCTGGCTTGCAGATGCCTACTGGGATAACATCACAGAGCTAGACAAACTGACCAACTTCCACGGACTCATGAACTCCTTTGAGCAGTACCCTCGTGACTGGCACCTGTGGTATACCAATGCTGCCCCGGAGAAGGCGATGCTGCCAGGTACCAGGCGTCTGTGTCCCACTCTCACTTTTCTCCTTCCCTCCATTCAGCCACATGCCGGCCCTTCCCATTGTCCTCCATCCCCTCTCCCAGCTGGTGCCTGCCTCCTGGCCCGGAGCACATTCCCGGCAGGTGCCCCTTTGTCTGGATTCCCCGCTCTTCCAGACTCACTCCCTCTCCCTGCAATGACTCACCTCATCCCCAGGTGAGTGGGAAAATGCCTGCAATGAAATGCAACGGATGCTGATCGTTCGCTCCCTGCGCCAGGACCGCGTGGCCTTCTGCGTGACCTCCTTCATCATCACCAACCTTGGCTCCCGCTTCATCGAGCCGCCTGTGCTGAATATGAAGTCGGTCGGTGGCTCGGCTTCCTTGTCCCCACGGCCCATGGGTCTTTCCTGCCTCCCTCGCTCTGTTTCAGTCTCCTTCATCTCTCTCTCCCACTTTGGTCATGTGGCCTTCTGCCTGATGCTATACCTGTGCTTCTGGCAGGTGCTGGAGGATTCAACCCCACGATCCCCACTCGTGTTCATCCTGTCCCCTGGTGTGGACCCCACCAGTGCCCTGCTGCAGCTGGCAGAGCACATGGGCATGGCCCAGCGCTTCCACGCCCTGTCCCTGGGCCAGGGCCAGGCCCCCATCGCTGCTCGGCTCCTCCGAGAGGGTGTGACTCAGGGTTGGTGTCCATCCTTTCTTCCACCCCCATCTTCAGCCCAGTCCTTGTCCCTAGAACCTCCAACCTCAATTACACTACTGTCCCTGTACCTCCCACTTCTACAGAGGGCCCCAGAAGTGGCAGATCTTAGTGTTAGGCCCCCCCAGCACCCCCACCCCAACACCAGGTGGAAAGCATGAGGACAGGCAGGGCTTAGGAAATGATTCCCACTGACCCTGGCATCTCCTTGCAGGACACTGGGTGTTCCTGGCAAACTGCCACCTGTCACTGTCTTGGATGCCTAATCTGGACAAGCTGGTGGAGCAGCTGCAGGTGGAGGATCCTCATCCATCCTTCCGCCTCTGGCTCAGCTCCATCCCCCACCCAGACTTCCCTATCTCAATCTTGCAGGTCAGCATCAAGATGACCACAGAGCCACCAAAGGTATGTGGCCATAGAGAACCAGCATCATCAGGGCCATCTGGTCCACCTTACCTCCTGCTAGCACCAGAGAGAGGGCTTAACCAACAACAACATGATTTGATTGTCCTCAAAAAATTCCACCTCATTCCTCTCCTGTTTGTGCCAAACTCCTAGAACACAATAATAAGAGCTAACATTTCTTGAGTGATTATCATGTGCCACGCACTGTTCTAAGTTCTTTACATTTATTAACTCGTTTAATATGGGTGTGTGCACACACACACCCTATAAGGTGAATACTGTTACCCCCATTTTAAAGATAGGAAATGAGATACAGAAAGAGTAAATAAGTATTCCAGAGCCAGAGTTTGGGTAGTTGGGTCCCCAAATTCATTCTTTTATACCTCAGAACCTTCCTGCCTCCCATCATTTCCTTACATCCTCTTCCGAATGTCACACTTCCTGCCTCTTTGCCTTTCCTTTCCTCCGACTCTACTGAAATTTTTATCTCCAATATCACAAGCTCATCACCAAATGCAATCATCACCACCCTCTAAAATCTGCCGTGTCACTGCGCTTCACCCACTCACCCCTGCTTAAACTATTTTAGTAGCTTTTCATTGCGCTTAGTTGAGATCAAAATCCTTTTTGCTCACCCTGTGAAAAGCACATGGACCAGTATGTATCATCCTCAACAGATAAGAGCTGTTTGAATCACGCATGGGTGCCTTTCATCATTATTAATCCTCCTTGGCCACTTGGGGCAGCTGTCACAGTCGACTGTCCCTTTCCCTGGCTCCCTGACACATCACTCCTGCTTTCCCCGCTGTCTTTTGACATATCATTTATTACTTCGGTGTTTCTTTTTCCTCTGCCTGTGACCAGATTGCAATACTTACTCCTTAACCTAAGGACTAAGAGGGGAGGGCCAAAGAGGGGAGGGACCCTTGGTCCTGGCCCAGCGTTTCTCATTCTACTTTCTCCTTTCACAAGTTGTTGGAGAAATTGTCCTTTTCATGATTTCAACTCTAATCCCATCTCTGGCATCAGCCCCAAAGTCAGTGCCAGCTCTGAATTGCCATCAGATTACAAAGCACTTCTTGGCACACCAGCACCATAATAGCAACTCGTTTCACACTTTTTTGTCCCAACCCCCAAGACTCAGAATGTGATTACGTTTAGAGGCAGGATATTTTTTTAGAAAGCGTCTTGGCCAGGCATGGTGGCTCAGGCCGGGTGTGATGGCTCACACCTGTAATCCTAGCATTTGGGGAGGCTGAAGCAGGTGGATCACCTGAGCTCAGGAAGGTTAGATATGGAGTTCAGGTATGATAACCCTGGCTAGAGGTGGAGGTTGCAGGGAGCTGAGATTGCGCTGTTACACTGCAGCCTGGGCTCCGCCTCCCAGGTTCAAGCAGTTCTCCTACCTCAGCCACCTGAGTAGCTGGGACTACAGGTGTGCGCCACTACGCCCTACTAATTTTTG
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AGTAGCTGGGACTACAGGCCTGCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAGAGGCGGGGTCCCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCGGCCTGAGAGGTCCTTTTAAAGTGGATGCCATTGTGACGGGCTCCCCATGGCTGGCGCCACCTCCCACCACACAGCCCCCACTCCACTCCAGCCACGCAGGCCTCATTGCCCTCCCCAAACCCCCTGGCACGTCTCGCCTCAGGGCCTTTGCGTGGCCATGCCTTCTGCTGGAAGCCTACTCCCCGGCGTGTGCACCTGGCCATCTCTCACCTCCTTCAGACCTCACCTCAATGCGACCTTGATCTTCTTATTTAATACTTCAAACTACCCCTCAACACTCTCAGTCTCCCTTACCCTCCTCAGAGTATCCTATTTTTCCTTGGCACTGCCGTCTTTGCTATACTAGATAATTTACTTATTTGTTATGTTTTTGGTTCATAATCTGCCCATGAATTCACAATCCCATGTTAGAAAATAAAATCCCCAAGGGCAGATATATTTGTCCATTTTGCTCAGTAATGCATCCCAATGATTAAAATGCATAGTTGGCGAACAATAAATATTTGTTAAGAAGAATGAATAAGCAAGTGAGTGAATGAATGAGTAAATAGTTTGTGCTTCTGTGAAGGTGAGGCTACCAACCAGTCATTAGGTTGGAGACATTATTACCAGGCAACCAGCAGAGGGCGCCAGCTTCCTAAATTTGAACTGTGAGGGCTAAGGGCAGGGTCTGAGTCCTAGCCCCCACGTTTATTCCCCAGGATCCCTGTATTCATCTCTTCACTCTCATACAAAAGCCATTTTGGGCTGGGCGCGGTGGCTGACACCTGTAATCCCAGTACTTTGGGAGGCCGAGGAGGATGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTGTCTACTAAAAATACAATAATTAGCCAGGTGTGGTGGCGAGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGGGTCAGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCACTCTGGCCTAGGTGACAAGAATAAGACTCCATCTCAAAAAAAAAAAAAAAATTCCATTTGGTTTTCCCACCGAGAGAGAGAAAAATACAGAGAGAGAGAGAGAGAGAGAGAGGAGAAAAAGATCACTCTTCTTTTGAAGTATTCCCAAGTCAATCCCTTTCTTCCTCCCCTTCTCCCACCAGGTCTTGGATCGGGAGGGCCAAATGGACAATCCATGTAGTAGCTGGCTTGCAGATGCCTACTGGGATAACATCACAGAGCTAGACAAACTGACCAACTTCCACGGACTCATGAACTCCTTTGAGCAGTACCCTCGTGACTGGCACCTGTGGTATACCAATGCTGCCCCGGAGAAGGCGATGCTGCCAGGTACCAGGCGTCTGTGTCCCACTCTCACTTTTCTCCTTCCCTCCATTCAGCCACATGCCGGCCCTTCCCATTGTCCTCCATCCCCTCTCCCAGCTGGTGCCTGCCTCCTGGCCCGGAGCACATTCCCGGCAGGTGCCCCTTTGTCTGGATTCCCCGCTCTTCCAGACTCACTCCCTCTCCCTGCAATGACTCACCTCATCCCCAGGTGAGTGGGAAAATGCCTGCAATGAAATGCAACGGATGCTGATCGTTCGCTCCCTGCGCCAGGACCGCGTGGCCTTCTGCGTGACCTCCTTCATCATCACCAACCTTGGCTCCCGCTTCATCGAGCCGCCTGTGCTGAATATGAAGTCGGTCGGTGGCTCGGCTTCCTTGTCCCCACGGCCCATGGGTCTTTCCTGCCTCCCTCGCTCTGTTTCAGTCTCCTTCATCTCTCTCTCCCACTTTGGTCATGTGGCCTTCTGCCTGATGCTATACCTGTGCTTCTGGCAGGTGCTGGAGGATTCAACCCCACGACCCCCACTCGTGTTCATCCTGTCCCCTGGTGTGGACCCCACCAGTGCCCTGCTGCAGCTGGCAGAGCACATGGGCATGGCCCAGCGCTTCCACGCCCTGTCCCTGGGCCAGGGCCAGGCCCCCATCGCTGCTCGGCTCCTCCGAGAGGGTGTGACTCAGGGTTGGTGTCCATCCTTTCTTCCACCCCCATCTTCAGCCCAGTCCTTGTCCCTAGAACCTCCAACCTCAATTACACTACTGTCCCTGTACCTCCCACTTCTACAGAGGGCCCCAGAAGTGGCAGATCTTAGTGTTAGGCCCCCCCAGCACCCCCACCCCAACACCAGGTGGAAAGCATGAGGACAGGCAGGGCTTAGGAAATGATTCCCACTGACCCTGGCATCTCCTTGCAGGACACTGGGTGTTCCTGGCAAACTGCCACCTGTCACTGTCTTGGATGCCTAATCTGGACAAGCTGGTGGAGCAGCTGCAGGTGGAGGATCCTCATCCATCCTTCCGCCTCTGGCTCAGCTCCATCCCCCACCCAGACTTCCCTATCTCAATCTTGCAGGTCAGCATCAAGATGACCACAGAGCCACCAAAGGTATGTGGCCATAGAGAACCAGCATCATCAGGGCCATCTGGTCCACCTTACCTCCTGCTAGCACCAGAGAGAGGGCTTAACCAACAACAACATGATTTGATTGTCCTCAAAAAATTCCACCTCATTCCTCTCCTGTTTGTGCCAAACTCCTAGAACACAATAATAAGAGCTAACATTTCTTGAGTGATTATCATGTGCCACGCACTGTTCTAAGTTCTTTACATTTATTAACTCGTTTAATATGGGTGTGTGCACACACACACCCTATAAGGTGAATACTGTTACCCCCATTTTAAAGATAGGAAATGAGATACAGAAAGAGTAAATAAGTATTCCAGAGCCAGAGTTTGGGTAGTTGGGTCCCCAAATTCATTCTTTTATACCTCAGAACCTTCCTGCCTCCCATCATTTCCTTACATCCTCTTCCGAATGTCACACTTCCTGCCTCTTTGCCTTTCCTTTCCTCCGACTCTACTGAAATTTTTATCTCCAATATCACAAGCTCATCACCAAATGCAATCATCACCACCCTCTAAAATCTGCCGTGTCACTGCGCTTCACCCACTCACCCCTGCTTAAACTATTTTAGTAGCTTTTCATTGCGCTTAGTTGAGATCAAAATCCTTTTTGCTCACCCTGTGAAAAGCACATGGACCAGTATGTATCATCCTCAACAGATAAGAGCTGTTTGAATCACGCATGGGTGCCTTTCATCATTATTAATCCTCCTTGGCCACTTGGGGCAGCTGTCACAGTCGACTGTCCCTTTCCCTGGCTCCCTGACACATCACTCCTGCTTTCCCCGCTGTCTTTTGACATATCATTTATTACTTCGGTGTTTCTTTTTCCTCTGCCTGTGACCAGATTGCAATACTTACTCCTTAACCTAAGGACTAAGAGGGGAGGGCCAAAGAGGGGAGGGACCCTTGGTCCTGGCCCAGCGTTTCTCATTCTACTTTCTCCTTTCACAAGTTGTTGGAGAAATTGTCCTTTTCATGATTTCAACTCTAATCCCATCTCTGGCATCAGCCCCAAAGTCAGTGCCAGCTCTGAATTGCCATCAGATTACAAAGCACTTCTTGGCACACCAGCACCATAATAGCAACTCGTTTCACACTTTTTTGTCCCAACCCCCAAGACTCAGAATGTGATTACGTTTAGAGGCAGGATATTTTTTTAGAAAGCGTCTTGGCCAGGCATGGTGGCTCAGGCCGGGTGTGATGGCTCACACCTGTAATCCTAGCATTTGGGGAGGCTGAAGCAGGTGGATCACCTGAGCTCAGGAAGGTTAGATATGGAGTTCAGGTATGATAACCCTGGCTAGAGGTGGAGGTTGCAGGGAGCTGAGATTGCGCTGTTACACTGCAGCCTGGGCTCCGCCTCCCAGGTTCAAGCAGTTCTCCTACCTCAGCCACCTGAGTAGCTGGGACTACAGGTGTGCGCCACTACGCCCTACTAATTTTTG
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Task1_train_23633
|
This alteration in CHD3 (chromodomain helicase DNA binding protein 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Snijders Blok-Campeau syndrome
|
CCTGCCCCACAGTGTGGATAAAAAGGGGAATTACCACTATCTAGTAAAATGGAGGGACTTACCATATGACCAGTCCACGTGGGAGGAAGATGAAATGAATATCCCTGAATACGAAGAACATAAGCAAAGCTACTGGAGACACCGGTGAGGGAATGAGCTTGTGGATTCAAGGGATTCTGACGATGAGGGCATGAAAGCCAAAACTCCAGCATAAAATGAGGGTACAGTAGGGCCTGATTCAACCTGGAGTTCAGGGCAATGGCCACCTGAGCTGGGTTGTTTGAGATAGGCTTGCTAAAGAGGTAGTGTAAGGAACAGAAACAAGATCTGGCTGAGTAGTGGAGAAGAGGATGTTCAAGAGTGGGGAGGGCTGGCTCTTGAGGTGAAATCCAAAGGGCAAGGGTAAAGAGCCTGGGAAAAAGGAAATATGGGAAAATCTAGGTCATGGACAGTGGGAAGTAGGTCTGGAATGGGTTCAGAAAAGAAAGCGTAGGACTCCCAAGGATGAGGCCTCATTCAGACCCACTCTTTTTCCAGAGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAGAAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGATGTGAGTCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCT
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CCTGCCCCACAGTGTGGATAAAAAGGGGAATTACCACTATCTAGTAAAATGGAGGGACTTACCATATGACCAGTCCACGTGGGAGGAAGATGAAATGAATATCCCTGAATACGAAGAACATAAGCAAAGCTACTGGAGACACCGGTGAGGGAATGAGCTTGTGGATTCAAGGGATTCTGACGATGAGGGCATGAAAGCCAAAACTCCAGCATAAAATGAGGGTACAGTAGGGCCTGATTCAACCTGGAGTTCAGGGCAATGGCCACCTGAGCTGGGTTGTTTGAGATAGGCTTGCTAAAGAGGTAGTGTAAGGAACAGAAACAAGATCTGGCTGAGTAGTGGAGAAGAGGATGTTCAAGAGTGGGGAGGGCTGGCTCTTGAGGTGAAATCCAAAGGGCAAGGGTAAAGAGCCTGGGAAAAAGGAAATATGGGAAAATCTAGGTCATGGACAGTGGGAAGTAGGTCTGGAATGGGTTCAGAAAAGAAAGCGTAGGACTCCCAAGGATGAGGCCTCATTCAGACCCACTCTTTTTCCAGAGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAGAAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGATGTGAGTCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCGATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCT
|
Task1_train_23634
|
This alteration in CHD3 (chromodomain helicase DNA binding protein 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Snijders Blok-Campeau syndrome
|
AGAGGATGTTCAAGAGTGGGGAGGGCTGGCTCTTGAGGTGAAATCCAAAGGGCAAGGGTAAAGAGCCTGGGAAAAAGGAAATATGGGAAAATCTAGGTCATGGACAGTGGGAAGTAGGTCTGGAATGGGTTCAGAAAAGAAAGCGTAGGACTCCCAAGGATGAGGCCTCATTCAGACCCACTCTTTTTCCAGAGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAGAAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGATGTGAGTCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGC
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AGAGGATGTTCAAGAGTGGGGAGGGCTGGCTCTTGAGGTGAAATCCAAAGGGCAAGGGTAAAGAGCCTGGGAAAAAGGAAATATGGGAAAATCTAGGTCATGGACAGTGGGAAGTAGGTCTGGAATGGGTTCAGAAAAGAAAGCGTAGGACTCCCAAGGATGAGGCCTCATTCAGACCCACTCTTTTTCCAGAGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAGAAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGATGTGAGTCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTTCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGC
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Task1_train_23635
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This sequence change occurs on Chromosome 17, altering CHD3 (chromodomain helicase DNA binding protein 3). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Snijders Blok-Campeau syndrome
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AAATCCAAAGGGCAAGGGTAAAGAGCCTGGGAAAAAGGAAATATGGGAAAATCTAGGTCATGGACAGTGGGAAGTAGGTCTGGAATGGGTTCAGAAAAGAAAGCGTAGGACTCCCAAGGATGAGGCCTCATTCAGACCCACTCTTTTTCCAGAGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAGAAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGATGTGAGTCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAA
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AAATCCAAAGGGCAAGGGTAAAGAGCCTGGGAAAAAGGAAATATGGGAAAATCTAGGTCATGGACAGTGGGAAGTAGGTCTGGAATGGGTTCAGAAAAGAAAGCGTAGGACTCCCAAGGATGAGGCCTCATTCAGACCCACTCTTTTTCCAGAGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAGAAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGATGTGAGTCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCTTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAA
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Task1_train_23636
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The gene CHD3 (chromodomain helicase DNA binding protein 3) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Inborn genetic diseases
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TCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCC
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TCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGTGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCC
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Task1_train_23637
|
A sequence alteration has been identified in CHD3 (chromodomain helicase DNA binding protein 3) on Chromosome 17. Is it disease-inducing or harmless?
|
Pathogenic; Snijders Blok-Campeau syndrome
|
CTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTG
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CTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATTTCCTTGAGCTTTCTGACTTCTTGTCTCTATAGCCTACCGTGAAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAGTTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCTGATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAGGAGGTGCTGGATTCTAGGACCTTGAAGGGGACCGCCTGGACTGGGGAAGTGGGGAGGGGGAAGATAAAGGGGTGTAGCTGGCAGAGGACTAGGGTATACGGCCTCTAGCCTAGACTTATGCTGCCCCCATTCTTGACTCCCAGGGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGGGAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAGGACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGGGGCAAGAAAGCTTTTAAGATGAAGGTAAGACCCTCTACCTCATATCCTCTGAGACCCTCAAAGCTGTCACTTCTTTTTCTCAGCCAGGAATTCAGTTTCTCTATTCCCCTCCTCACCTTTCTCCTCTTCCTCCACCTGTCCTCCTGTCTCTGCACTACCATCCTAGAGATATGGCAGGTACTCCCAGGGGCATACATGGATCTGTCGGTACTGGAAATGTGGGCAGAGGTTTAGGAGCCATGGTCTGTAATCCCTGCTTGGAGAACAGAGTAATGGCTCCTGTTGGGAGCCACAGTCAGGACAAGGTGTCTGGTTCTGGAGGTGTAGGTGCATGGTTGTCAGGTGGCAGCTGAATGGGCAATAATTATGTTGGCAGAGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACATCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTTGTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAGGTGAGTGAGGTTTCCAGACCTAAAAAACTTGAAGTTGTGGACTTCCCACTTGCCTTGGTCCTAAAAAACAACAAAAATTCTGGGGATTTTCTGTAGTCTGGGAGGACGTCCAGGTTGGAAGAGGGAGAGGGCCAGAGATTTGGGGCCTCTGATCCTGAGTGAAATGGGAGCTGGGGCAGGGAAAGGCTGATGCTGTGGGTCGGTCACTTGTCACTAATAAGCCCATTTTCCTGCCTTGCCTTGCCCCATCTTTTAGTTTTTCAGGGTTCTCAATGGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAGGAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAAGTAAGTGGTTCCCTAAGGGTAGTTGGCAGAGATGAGAGGTGGAGCAGATAAAATGAGCTGGTAGAGGATTAATCTGAGGTGGTAAGTCTGAGATCAGGGGCAAGGAACTTGCCGACCTGTTAATTTTCTTCTCTTCTGGCTCTTAGCAACTTGGAGGGCTTCCTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTGGGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACAGAGCTCATCGTTCAGGTGGAGCTAAGCCCCATGCAGAAGTAAGATGCAAGACGAGCTGCCTGGAGTAGGGCTTGGGGATTGATGGGAGCGTTCCAAGTGCAATATCATAATTGCTTCCTTTATTTATGTTTCTTTTACACCCCTTTCCTGGCCTTTAGGAAATACTACAAATACATCCTGACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAATATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTG
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Task1_train_23638
|
This sequence variant lies in CHD3 (chromodomain helicase DNA binding protein 3) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Snijders Blok-Campeau syndrome
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TATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTGGGTGTGGGAGGCCTGAGAAACCTGTGATAGGTCCCTGGGATGGGAGGGGGACTGGCTTGGGGGACATTGGAAACTTAGGCTTTGAGTTGGGGGCATGGTTGTTTGTCATCAGAGAACATCTAGGAGCAGGTGGACAGAACTACCGGGTACAAGAAAAACCTGATCCAACTCTCACCTCCTAGCTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGCCTGGGCATCAATCTGGCCACTGCTGACACTGTCATCATCTTTGATTCTGACTGGAACCCCCATAATGACATCCAGGTGGGAACTCGCATCCTAGAACCCCTGCACCATTTAGCAAGGAGATGTGGGTTCATGGAGGAGGGTGTCATGTTCCGGGGTCAGAAATAAATCTCTTCTGGGAGGAGAGAAGGCCCTTCTTCAGCAGCCTTCTTTCCTGAGGCAGCTCTATGGGCAGCTTCTCCCCGGCCACTCCCCTGACCCACCCGCCACTTTCTCTTGCCCCTGCAGGCCTTTAGCCGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATGATTTACCGGTTTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGAAAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGCAGGCTCCATGTCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAAAACGAGGGTGAGAACCTTTTCTGCAGCTCTGTGAAAGCAGGCCCCTGCTCTCTCAGGAGTACTTATCAGCCCCCTGGGGAGAGAAAAACAACTCTTCTCTGCAGCCTTTGAAGGAAGGAGAGCCTTCTTTTAGTAGCCCTTGGAGGAAGGTTGGCCTCTTTCTTTGCCTGTAGGGTTAAAACAAACAAAACAAAAACCTTTCAACATTGGCTCCCGGGGAAAAAGCCTTCTCTAGGGCTCCTGTGAAAAGGACGCAGAGTAGAAGCTTTCCCATCAGCCTTTCTAAACTTTGGAACCCAAAGTTCCCGTTTGTTTTCCCTCTCACCAGGGGAGAACAAGGAGGAGGACAGCAGTGTGATTCATTATGACAATGAGGCCATCGCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAATGAGTATCTCAGCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAGGTGAGAGGCTTTGGGGGCCAGACATTATCTATCCCAGGCCATCTCCAAAAGGCAGTATCCTTTACTCAGCCTTGAAGTAGGAGGGTCTGTCCCCCTTAAAACAGTAGTGGACCTCAAACAACTTCTTCGTCTAATAGGTGAGACTGGACTTCAGAGAGAAACGTAGGCACAGACAGTACTGGTAAACACAGAAGGGTACCTTCTGAGACAGTGCAGGAGAAACACTGTCAGAGGGATTAGAGGAGAGATTTAGAAAACATGAGGAGAGCACATTGCAGGTAAGAGATGGCATGGAACATGCGCAATGTCCAGAAAATGTATGCAGAGCCACGAAGCTGCAGGAGTGGGGAGACCGGATTGGGCTGACGCAGCAGAGTAGGGATTTCCTTGCAGTGGAAGGATTAGCAAAGAAGGAGACCCCCAGTGTTCATTCATTCTGTTGCCCTTCAGATTGAGGAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTACTGGGAGAAGCTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGCAAGCGGGTTCGCAAGCAAGTTAACTACAATGATGCTGCTCAGGAAGACCAAGGTGAGGACTGCCCCAGATGCAGGCAGTAAAGGGGGGAAGTGATGATGAGTAGGGACTTGAAGGCTGGAGCTATTTAGAGGGAAAGAGAGAAGCCTAGAAGTCAGAGCCTTCCTCTGCTAAAAGGGAAAGACATAAGGTAGAGTCATTAGGAACTACCCAGAGGCCAGGTGGGTTTGCAGGAGATTTAAACTCTTCGGTGGTTGCACAGGCATCCTGTGGACACCCAGGGCCATTGCTTAGAGTAGGTTTTGCAGGAGAAGCAGAGGGGCCCAGAGACTGAAGGTGGGCGGTGAATGGAGATGGTGTAGGATATGCGGCTCCCAAGTCAGACTTTGGGCAGTGATCTGGTGTTCCCAGAAGGACCAAGGCCAGAATAAAGGTAGACAAGTCTCGGCAGGGAGGAATCCAGCCAGAAAGGGCCTCAGCATGGGCATATCCCGAGAGCCCTCCCTGACCACTGGGCCCT
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TATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTGGGTGTGGGAGGCCTGAGAAACCTGTGATAGGTCCCTGGGATGGGAGGGGGACTGGCTTGGGGGACATTGGAAACTTAGGCTTTGAGTTGGGGGCATGGTTGTTTGTCATCAGAGAACATCTAGGAGCAGGTGGACAGAACTACCGGGTACAAGAAAAACCTGATCCAACTCTCACCTCCTAGCTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGCCTGGGCATCAATCTGGCCACTGCTGACACTGTCATCATCTTTGATTCTGACCGGAACCCCCATAATGACATCCAGGTGGGAACTCGCATCCTAGAACCCCTGCACCATTTAGCAAGGAGATGTGGGTTCATGGAGGAGGGTGTCATGTTCCGGGGTCAGAAATAAATCTCTTCTGGGAGGAGAGAAGGCCCTTCTTCAGCAGCCTTCTTTCCTGAGGCAGCTCTATGGGCAGCTTCTCCCCGGCCACTCCCCTGACCCACCCGCCACTTTCTCTTGCCCCTGCAGGCCTTTAGCCGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATGATTTACCGGTTTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGAAAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGCAGGCTCCATGTCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAAAACGAGGGTGAGAACCTTTTCTGCAGCTCTGTGAAAGCAGGCCCCTGCTCTCTCAGGAGTACTTATCAGCCCCCTGGGGAGAGAAAAACAACTCTTCTCTGCAGCCTTTGAAGGAAGGAGAGCCTTCTTTTAGTAGCCCTTGGAGGAAGGTTGGCCTCTTTCTTTGCCTGTAGGGTTAAAACAAACAAAACAAAAACCTTTCAACATTGGCTCCCGGGGAAAAAGCCTTCTCTAGGGCTCCTGTGAAAAGGACGCAGAGTAGAAGCTTTCCCATCAGCCTTTCTAAACTTTGGAACCCAAAGTTCCCGTTTGTTTTCCCTCTCACCAGGGGAGAACAAGGAGGAGGACAGCAGTGTGATTCATTATGACAATGAGGCCATCGCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAATGAGTATCTCAGCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAGGTGAGAGGCTTTGGGGGCCAGACATTATCTATCCCAGGCCATCTCCAAAAGGCAGTATCCTTTACTCAGCCTTGAAGTAGGAGGGTCTGTCCCCCTTAAAACAGTAGTGGACCTCAAACAACTTCTTCGTCTAATAGGTGAGACTGGACTTCAGAGAGAAACGTAGGCACAGACAGTACTGGTAAACACAGAAGGGTACCTTCTGAGACAGTGCAGGAGAAACACTGTCAGAGGGATTAGAGGAGAGATTTAGAAAACATGAGGAGAGCACATTGCAGGTAAGAGATGGCATGGAACATGCGCAATGTCCAGAAAATGTATGCAGAGCCACGAAGCTGCAGGAGTGGGGAGACCGGATTGGGCTGACGCAGCAGAGTAGGGATTTCCTTGCAGTGGAAGGATTAGCAAAGAAGGAGACCCCCAGTGTTCATTCATTCTGTTGCCCTTCAGATTGAGGAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTACTGGGAGAAGCTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGCAAGCGGGTTCGCAAGCAAGTTAACTACAATGATGCTGCTCAGGAAGACCAAGGTGAGGACTGCCCCAGATGCAGGCAGTAAAGGGGGGAAGTGATGATGAGTAGGGACTTGAAGGCTGGAGCTATTTAGAGGGAAAGAGAGAAGCCTAGAAGTCAGAGCCTTCCTCTGCTAAAAGGGAAAGACATAAGGTAGAGTCATTAGGAACTACCCAGAGGCCAGGTGGGTTTGCAGGAGATTTAAACTCTTCGGTGGTTGCACAGGCATCCTGTGGACACCCAGGGCCATTGCTTAGAGTAGGTTTTGCAGGAGAAGCAGAGGGGCCCAGAGACTGAAGGTGGGCGGTGAATGGAGATGGTGTAGGATATGCGGCTCCCAAGTCAGACTTTGGGCAGTGATCTGGTGTTCCCAGAAGGACCAAGGCCAGAATAAAGGTAGACAAGTCTCGGCAGGGAGGAATCCAGCCAGAAAGGGCCTCAGCATGGGCATATCCCGAGAGCCCTCCCTGACCACTGGGCCCT
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Task1_train_23639
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Gene CHD3 (chromodomain helicase DNA binding protein 3) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Snijders Blok-Campeau syndrome
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TCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTGGGTGTGGGAGGCCTGAGAAACCTGTGATAGGTCCCTGGGATGGGAGGGGGACTGGCTTGGGGGACATTGGAAACTTAGGCTTTGAGTTGGGGGCATGGTTGTTTGTCATCAGAGAACATCTAGGAGCAGGTGGACAGAACTACCGGGTACAAGAAAAACCTGATCCAACTCTCACCTCCTAGCTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGCCTGGGCATCAATCTGGCCACTGCTGACACTGTCATCATCTTTGATTCTGACTGGAACCCCCATAATGACATCCAGGTGGGAACTCGCATCCTAGAACCCCTGCACCATTTAGCAAGGAGATGTGGGTTCATGGAGGAGGGTGTCATGTTCCGGGGTCAGAAATAAATCTCTTCTGGGAGGAGAGAAGGCCCTTCTTCAGCAGCCTTCTTTCCTGAGGCAGCTCTATGGGCAGCTTCTCCCCGGCCACTCCCCTGACCCACCCGCCACTTTCTCTTGCCCCTGCAGGCCTTTAGCCGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATGATTTACCGGTTTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGAAAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGCAGGCTCCATGTCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAAAACGAGGGTGAGAACCTTTTCTGCAGCTCTGTGAAAGCAGGCCCCTGCTCTCTCAGGAGTACTTATCAGCCCCCTGGGGAGAGAAAAACAACTCTTCTCTGCAGCCTTTGAAGGAAGGAGAGCCTTCTTTTAGTAGCCCTTGGAGGAAGGTTGGCCTCTTTCTTTGCCTGTAGGGTTAAAACAAACAAAACAAAAACCTTTCAACATTGGCTCCCGGGGAAAAAGCCTTCTCTAGGGCTCCTGTGAAAAGGACGCAGAGTAGAAGCTTTCCCATCAGCCTTTCTAAACTTTGGAACCCAAAGTTCCCGTTTGTTTTCCCTCTCACCAGGGGAGAACAAGGAGGAGGACAGCAGTGTGATTCATTATGACAATGAGGCCATCGCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAATGAGTATCTCAGCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAGGTGAGAGGCTTTGGGGGCCAGACATTATCTATCCCAGGCCATCTCCAAAAGGCAGTATCCTTTACTCAGCCTTGAAGTAGGAGGGTCTGTCCCCCTTAAAACAGTAGTGGACCTCAAACAACTTCTTCGTCTAATAGGTGAGACTGGACTTCAGAGAGAAACGTAGGCACAGACAGTACTGGTAAACACAGAAGGGTACCTTCTGAGACAGTGCAGGAGAAACACTGTCAGAGGGATTAGAGGAGAGATTTAGAAAACATGAGGAGAGCACATTGCAGGTAAGAGATGGCATGGAACATGCGCAATGTCCAGAAAATGTATGCAGAGCCACGAAGCTGCAGGAGTGGGGAGACCGGATTGGGCTGACGCAGCAGAGTAGGGATTTCCTTGCAGTGGAAGGATTAGCAAAGAAGGAGACCCCCAGTGTTCATTCATTCTGTTGCCCTTCAGATTGAGGAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTACTGGGAGAAGCTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGCAAGCGGGTTCGCAAGCAAGTTAACTACAATGATGCTGCTCAGGAAGACCAAGGTGAGGACTGCCCCAGATGCAGGCAGTAAAGGGGGGAAGTGATGATGAGTAGGGACTTGAAGGCTGGAGCTATTTAGAGGGAAAGAGAGAAGCCTAGAAGTCAGAGCCTTCCTCTGCTAAAAGGGAAAGACATAAGGTAGAGTCATTAGGAACTACCCAGAGGCCAGGTGGGTTTGCAGGAGATTTAAACTCTTCGGTGGTTGCACAGGCATCCTGTGGACACCCAGGGCCATTGCTTAGAGTAGGTTTTGCAGGAGAAGCAGAGGGGCCCAGAGACTGAAGGTGGGCGGTGAATGGAGATGGTGTAGGATATGCGGCTCCCAAGTCAGACTTTGGGCAGTGATCTGGTGTTCCCAGAAGGACCAAGGCCAGAATAAAGGTAGACAAGTCTCGGCAGGGAGGAATCCAGCCAGAAAGGGCCTCAGCATGGGCATATCCCGAGAGCCCTCCCTGACCACTGGGCCCTTTCCACCCCCACAGACAACCAGTCAGAGTACTCGGTGGGTTCAGAGGAGGAGGATGAAGACTTCGATGAACGTCCTGAAGGTGGCATCTGTGTTCCTGACTCTACCTCACCTCTTCCCGTTTTATTTTCCAGTTTGCTTTAAGCCCACTGTTTTTATACAAGTAAAAAAGTCTTCGTGTGTGTGTGGAAAAACTCGATTGCAGATGAGCAGAAAGGAAGAAATATTCATAGTCTCTCTGCTAG
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TCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTGGGTGTGGGAGGCCTGAGAAACCTGTGATAGGTCCCTGGGATGGGAGGGGGACTGGCTTGGGGGACATTGGAAACTTAGGCTTTGAGTTGGGGGCATGGTTGTTTGTCATCAGAGAACATCTAGGAGCAGGTGGACAGAACTACCGGGTACAAGAAAAACCTGATCCAACTCTCACCTCCTAGCTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGCCTGGGCATCAATCTGGCCACTGCTGACACTGTCATCATCTTTGATTCTGACTGGAACCCCCATAATGACATCCAGGTGGGAACTCGCATCCTAGAACCCCTGCACCATTTAGCAAGGAGATGTGGGTTCATGGAGGAGGGTGTCATGTTCCGGGGTCAGAAATAAATCTCTTCTGGGAGGAGAGAAGGCCCTTCTTCAGCAGCCTTCTTTCCTGAGGCAGCTCTATGGGCAGCTTCTCCCCGGCCACTCCCCTGACCCACCCGCCACTTTCTCTTGCCCCTGCAGGCCTTTAGCTGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATGATTTACCGGTTTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGAAAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGCAGGCTCCATGTCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAAAACGAGGGTGAGAACCTTTTCTGCAGCTCTGTGAAAGCAGGCCCCTGCTCTCTCAGGAGTACTTATCAGCCCCCTGGGGAGAGAAAAACAACTCTTCTCTGCAGCCTTTGAAGGAAGGAGAGCCTTCTTTTAGTAGCCCTTGGAGGAAGGTTGGCCTCTTTCTTTGCCTGTAGGGTTAAAACAAACAAAACAAAAACCTTTCAACATTGGCTCCCGGGGAAAAAGCCTTCTCTAGGGCTCCTGTGAAAAGGACGCAGAGTAGAAGCTTTCCCATCAGCCTTTCTAAACTTTGGAACCCAAAGTTCCCGTTTGTTTTCCCTCTCACCAGGGGAGAACAAGGAGGAGGACAGCAGTGTGATTCATTATGACAATGAGGCCATCGCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAATGAGTATCTCAGCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAGGTGAGAGGCTTTGGGGGCCAGACATTATCTATCCCAGGCCATCTCCAAAAGGCAGTATCCTTTACTCAGCCTTGAAGTAGGAGGGTCTGTCCCCCTTAAAACAGTAGTGGACCTCAAACAACTTCTTCGTCTAATAGGTGAGACTGGACTTCAGAGAGAAACGTAGGCACAGACAGTACTGGTAAACACAGAAGGGTACCTTCTGAGACAGTGCAGGAGAAACACTGTCAGAGGGATTAGAGGAGAGATTTAGAAAACATGAGGAGAGCACATTGCAGGTAAGAGATGGCATGGAACATGCGCAATGTCCAGAAAATGTATGCAGAGCCACGAAGCTGCAGGAGTGGGGAGACCGGATTGGGCTGACGCAGCAGAGTAGGGATTTCCTTGCAGTGGAAGGATTAGCAAAGAAGGAGACCCCCAGTGTTCATTCATTCTGTTGCCCTTCAGATTGAGGAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTACTGGGAGAAGCTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGCAAGCGGGTTCGCAAGCAAGTTAACTACAATGATGCTGCTCAGGAAGACCAAGGTGAGGACTGCCCCAGATGCAGGCAGTAAAGGGGGGAAGTGATGATGAGTAGGGACTTGAAGGCTGGAGCTATTTAGAGGGAAAGAGAGAAGCCTAGAAGTCAGAGCCTTCCTCTGCTAAAAGGGAAAGACATAAGGTAGAGTCATTAGGAACTACCCAGAGGCCAGGTGGGTTTGCAGGAGATTTAAACTCTTCGGTGGTTGCACAGGCATCCTGTGGACACCCAGGGCCATTGCTTAGAGTAGGTTTTGCAGGAGAAGCAGAGGGGCCCAGAGACTGAAGGTGGGCGGTGAATGGAGATGGTGTAGGATATGCGGCTCCCAAGTCAGACTTTGGGCAGTGATCTGGTGTTCCCAGAAGGACCAAGGCCAGAATAAAGGTAGACAAGTCTCGGCAGGGAGGAATCCAGCCAGAAAGGGCCTCAGCATGGGCATATCCCGAGAGCCCTCCCTGACCACTGGGCCCTTTCCACCCCCACAGACAACCAGTCAGAGTACTCGGTGGGTTCAGAGGAGGAGGATGAAGACTTCGATGAACGTCCTGAAGGTGGCATCTGTGTTCCTGACTCTACCTCACCTCTTCCCGTTTTATTTTCCAGTTTGCTTTAAGCCCACTGTTTTTATACAAGTAAAAAAGTCTTCGTGTGTGTGTGGAAAAACTCGATTGCAGATGAGCAGAAAGGAAGAAATATTCATAGTCTCTCTGCTAG
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Task1_train_23640
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Located on Chromosome 17, this mutation impacts CHD3 (chromodomain helicase DNA binding protein 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Inborn genetic diseases
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TCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTGGGTGTGGGAGGCCTGAGAAACCTGTGATAGGTCCCTGGGATGGGAGGGGGACTGGCTTGGGGGACATTGGAAACTTAGGCTTTGAGTTGGGGGCATGGTTGTTTGTCATCAGAGAACATCTAGGAGCAGGTGGACAGAACTACCGGGTACAAGAAAAACCTGATCCAACTCTCACCTCCTAGCTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGCCTGGGCATCAATCTGGCCACTGCTGACACTGTCATCATCTTTGATTCTGACTGGAACCCCCATAATGACATCCAGGTGGGAACTCGCATCCTAGAACCCCTGCACCATTTAGCAAGGAGATGTGGGTTCATGGAGGAGGGTGTCATGTTCCGGGGTCAGAAATAAATCTCTTCTGGGAGGAGAGAAGGCCCTTCTTCAGCAGCCTTCTTTCCTGAGGCAGCTCTATGGGCAGCTTCTCCCCGGCCACTCCCCTGACCCACCCGCCACTTTCTCTTGCCCCTGCAGGCCTTTAGCCGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATGATTTACCGGTTTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGAAAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGCAGGCTCCATGTCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAAAACGAGGGTGAGAACCTTTTCTGCAGCTCTGTGAAAGCAGGCCCCTGCTCTCTCAGGAGTACTTATCAGCCCCCTGGGGAGAGAAAAACAACTCTTCTCTGCAGCCTTTGAAGGAAGGAGAGCCTTCTTTTAGTAGCCCTTGGAGGAAGGTTGGCCTCTTTCTTTGCCTGTAGGGTTAAAACAAACAAAACAAAAACCTTTCAACATTGGCTCCCGGGGAAAAAGCCTTCTCTAGGGCTCCTGTGAAAAGGACGCAGAGTAGAAGCTTTCCCATCAGCCTTTCTAAACTTTGGAACCCAAAGTTCCCGTTTGTTTTCCCTCTCACCAGGGGAGAACAAGGAGGAGGACAGCAGTGTGATTCATTATGACAATGAGGCCATCGCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAATGAGTATCTCAGCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAGGTGAGAGGCTTTGGGGGCCAGACATTATCTATCCCAGGCCATCTCCAAAAGGCAGTATCCTTTACTCAGCCTTGAAGTAGGAGGGTCTGTCCCCCTTAAAACAGTAGTGGACCTCAAACAACTTCTTCGTCTAATAGGTGAGACTGGACTTCAGAGAGAAACGTAGGCACAGACAGTACTGGTAAACACAGAAGGGTACCTTCTGAGACAGTGCAGGAGAAACACTGTCAGAGGGATTAGAGGAGAGATTTAGAAAACATGAGGAGAGCACATTGCAGGTAAGAGATGGCATGGAACATGCGCAATGTCCAGAAAATGTATGCAGAGCCACGAAGCTGCAGGAGTGGGGAGACCGGATTGGGCTGACGCAGCAGAGTAGGGATTTCCTTGCAGTGGAAGGATTAGCAAAGAAGGAGACCCCCAGTGTTCATTCATTCTGTTGCCCTTCAGATTGAGGAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTACTGGGAGAAGCTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGCAAGCGGGTTCGCAAGCAAGTTAACTACAATGATGCTGCTCAGGAAGACCAAGGTGAGGACTGCCCCAGATGCAGGCAGTAAAGGGGGGAAGTGATGATGAGTAGGGACTTGAAGGCTGGAGCTATTTAGAGGGAAAGAGAGAAGCCTAGAAGTCAGAGCCTTCCTCTGCTAAAAGGGAAAGACATAAGGTAGAGTCATTAGGAACTACCCAGAGGCCAGGTGGGTTTGCAGGAGATTTAAACTCTTCGGTGGTTGCACAGGCATCCTGTGGACACCCAGGGCCATTGCTTAGAGTAGGTTTTGCAGGAGAAGCAGAGGGGCCCAGAGACTGAAGGTGGGCGGTGAATGGAGATGGTGTAGGATATGCGGCTCCCAAGTCAGACTTTGGGCAGTGATCTGGTGTTCCCAGAAGGACCAAGGCCAGAATAAAGGTAGACAAGTCTCGGCAGGGAGGAATCCAGCCAGAAAGGGCCTCAGCATGGGCATATCCCGAGAGCCCTCCCTGACCACTGGGCCCTTTCCACCCCCACAGACAACCAGTCAGAGTACTCGGTGGGTTCAGAGGAGGAGGATGAAGACTTCGATGAACGTCCTGAAGGTGGCATCTGTGTTCCTGACTCTACCTCACCTCTTCCCGTTTTATTTTCCAGTTTGCTTTAAGCCCACTGTTTTTATACAAGTAAAAAAGTCTTCGTGTGTGTGTGGAAAAACTCGATTGCAGATGAGCAGAAAGGAAGAAATATTCATAGTCTCTCTGCTAG
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TCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGTCAGGATGGTCTCCATCACCTGACCTCAGGTGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTACTGTATAGCAAGTTCATTCTTGGCCTCTGATGCCTGTTCTTAAGGTTGCTGGAAGTTGAGGTCCAGCTCTAGTTCCTTTTCAGCTGCATGAGGGAAGGGGGAGGGTGAGCCATCTGCCTCCTTAGGGACTGGTATTATTTCTTCATCTTATTGGCAGGTGAGGGTGAAGGGCACAGACCCTTTGGAAATGTGATGAAAGCTCTGGGTCTACTCACCAGAAAACTGCACATACAATGACACAATTTTGTACGGATTTTCAGGGGGTTCCTGGATTTCCCTGAAACCTTTTCATGGGTCTCAGAGAACCTCTGCCTTAGGAGAAACAATCTTAAATCAAGAGAGTGTGACAAGAGGGCCAGACGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAAGATCACTTGAGGTCAGGAGTTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTTAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACACCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCGGTAGGATCACTTGAACCCAGGAGTGGAGGTTGCAGTGAGCAGAGATGGCACCACTGCACTCCAGCTAGGGCAACAGAATGAGACTCCATCTCAAAAAAAAATAAAAATAAATAAAAATAAGAAAAGAGAGTGTGACAAGAAGGTGGAATAATGAGGAGCTTAAGACAGGGCAGGGGTTCAGGTGTAAAGATTAGGGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTGGGTGTGGGAGGCCTGAGAAACCTGTGATAGGTCCCTGGGATGGGAGGGGGACTGGCTTGGGGGACATTGGAAACTTAGGCTTTGAGTTGGGGGCATGGTTGTTTGTCATCAGAGAACATCTAGGAGCAGGTGGACAGAACTACCGGGTACAAGAAAAACCTGATCCAACTCTCACCTCCTAGCTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGCCTGGGCATCAATCTGGCCACTGCTGACACTGTCATCATCTTTGATTCTGACTGGAACCCCCATAATGACATCCAGGTGGGAACTCGCATCCTAGAACCCCTGCACCATTTAGCAAGGAGATGTGGGTTCATGGAGGAGGGTGTCATGTTCCGGGGTCAGAAATAAATCTCTTCTGGGAGGAGAGAAGGCCCTTCTTCAGCAGCCTTCTTTCCTGAGGCAGCTCTATGGGCAGCTTCTCCCCGGCCACTCCCCTGACCCACCCGCCACTTTCTCTTGCCCCTGCAGGCCTTTAGCTGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATGATTTACCGGTTTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGAAAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGCAGGCTCCATGTCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAAAACGAGGGTGAGAACCTTTTCTGCAGCTCTGTGAAAGCAGGCCCCTGCTCTCTCAGGAGTACTTATCAGCCCCCTGGGGAGAGAAAAACAACTCTTCTCTGCAGCCTTTGAAGGAAGGAGAGCCTTCTTTTAGTAGCCCTTGGAGGAAGGTTGGCCTCTTTCTTTGCCTGTAGGGTTAAAACAAACAAAACAAAAACCTTTCAACATTGGCTCCCGGGGAAAAAGCCTTCTCTAGGGCTCCTGTGAAAAGGACGCAGAGTAGAAGCTTTCCCATCAGCCTTTCTAAACTTTGGAACCCAAAGTTCCCGTTTGTTTTCCCTCTCACCAGGGGAGAACAAGGAGGAGGACAGCAGTGTGATTCATTATGACAATGAGGCCATCGCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAATGAGTATCTCAGCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAGGTGAGAGGCTTTGGGGGCCAGACATTATCTATCCCAGGCCATCTCCAAAAGGCAGTATCCTTTACTCAGCCTTGAAGTAGGAGGGTCTGTCCCCCTTAAAACAGTAGTGGACCTCAAACAACTTCTTCGTCTAATAGGTGAGACTGGACTTCAGAGAGAAACGTAGGCACAGACAGTACTGGTAAACACAGAAGGGTACCTTCTGAGACAGTGCAGGAGAAACACTGTCAGAGGGATTAGAGGAGAGATTTAGAAAACATGAGGAGAGCACATTGCAGGTAAGAGATGGCATGGAACATGCGCAATGTCCAGAAAATGTATGCAGAGCCACGAAGCTGCAGGAGTGGGGAGACCGGATTGGGCTGACGCAGCAGAGTAGGGATTTCCTTGCAGTGGAAGGATTAGCAAAGAAGGAGACCCCCAGTGTTCATTCATTCTGTTGCCCTTCAGATTGAGGAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTACTGGGAGAAGCTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGCAAGCGGGTTCGCAAGCAAGTTAACTACAATGATGCTGCTCAGGAAGACCAAGGTGAGGACTGCCCCAGATGCAGGCAGTAAAGGGGGGAAGTGATGATGAGTAGGGACTTGAAGGCTGGAGCTATTTAGAGGGAAAGAGAGAAGCCTAGAAGTCAGAGCCTTCCTCTGCTAAAAGGGAAAGACATAAGGTAGAGTCATTAGGAACTACCCAGAGGCCAGGTGGGTTTGCAGGAGATTTAAACTCTTCGGTGGTTGCACAGGCATCCTGTGGACACCCAGGGCCATTGCTTAGAGTAGGTTTTGCAGGAGAAGCAGAGGGGCCCAGAGACTGAAGGTGGGCGGTGAATGGAGATGGTGTAGGATATGCGGCTCCCAAGTCAGACTTTGGGCAGTGATCTGGTGTTCCCAGAAGGACCAAGGCCAGAATAAAGGTAGACAAGTCTCGGCAGGGAGGAATCCAGCCAGAAAGGGCCTCAGCATGGGCATATCCCGAGAGCCCTCCCTGACCACTGGGCCCTTTCCACCCCCACAGACAACCAGTCAGAGTACTCGGTGGGTTCAGAGGAGGAGGATGAAGACTTCGATGAACGTCCTGAAGGTGGCATCTGTGTTCCTGACTCTACCTCACCTCTTCCCGTTTTATTTTCCAGTTTGCTTTAAGCCCACTGTTTTTATACAAGTAAAAAAGTCTTCGTGTGTGTGTGGAAAAACTCGATTGCAGATGAGCAGAAAGGAAGAAATATTCATAGTCTCTCTGCTAG
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Task1_train_23641
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Given a variant located on Chromosome 17 and affecting CHD3 (chromodomain helicase DNA binding protein 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Snijders Blok-Campeau syndrome
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GGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTGGGTGTGGGAGGCCTGAGAAACCTGTGATAGGTCCCTGGGATGGGAGGGGGACTGGCTTGGGGGACATTGGAAACTTAGGCTTTGAGTTGGGGGCATGGTTGTTTGTCATCAGAGAACATCTAGGAGCAGGTGGACAGAACTACCGGGTACAAGAAAAACCTGATCCAACTCTCACCTCCTAGCTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGCCTGGGCATCAATCTGGCCACTGCTGACACTGTCATCATCTTTGATTCTGACTGGAACCCCCATAATGACATCCAGGTGGGAACTCGCATCCTAGAACCCCTGCACCATTTAGCAAGGAGATGTGGGTTCATGGAGGAGGGTGTCATGTTCCGGGGTCAGAAATAAATCTCTTCTGGGAGGAGAGAAGGCCCTTCTTCAGCAGCCTTCTTTCCTGAGGCAGCTCTATGGGCAGCTTCTCCCCGGCCACTCCCCTGACCCACCCGCCACTTTCTCTTGCCCCTGCAGGCCTTTAGCCGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATGATTTACCGGTTTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGAAAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGCAGGCTCCATGTCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAAAACGAGGGTGAGAACCTTTTCTGCAGCTCTGTGAAAGCAGGCCCCTGCTCTCTCAGGAGTACTTATCAGCCCCCTGGGGAGAGAAAAACAACTCTTCTCTGCAGCCTTTGAAGGAAGGAGAGCCTTCTTTTAGTAGCCCTTGGAGGAAGGTTGGCCTCTTTCTTTGCCTGTAGGGTTAAAACAAACAAAACAAAAACCTTTCAACATTGGCTCCCGGGGAAAAAGCCTTCTCTAGGGCTCCTGTGAAAAGGACGCAGAGTAGAAGCTTTCCCATCAGCCTTTCTAAACTTTGGAACCCAAAGTTCCCGTTTGTTTTCCCTCTCACCAGGGGAGAACAAGGAGGAGGACAGCAGTGTGATTCATTATGACAATGAGGCCATCGCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAATGAGTATCTCAGCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAGGTGAGAGGCTTTGGGGGCCAGACATTATCTATCCCAGGCCATCTCCAAAAGGCAGTATCCTTTACTCAGCCTTGAAGTAGGAGGGTCTGTCCCCCTTAAAACAGTAGTGGACCTCAAACAACTTCTTCGTCTAATAGGTGAGACTGGACTTCAGAGAGAAACGTAGGCACAGACAGTACTGGTAAACACAGAAGGGTACCTTCTGAGACAGTGCAGGAGAAACACTGTCAGAGGGATTAGAGGAGAGATTTAGAAAACATGAGGAGAGCACATTGCAGGTAAGAGATGGCATGGAACATGCGCAATGTCCAGAAAATGTATGCAGAGCCACGAAGCTGCAGGAGTGGGGAGACCGGATTGGGCTGACGCAGCAGAGTAGGGATTTCCTTGCAGTGGAAGGATTAGCAAAGAAGGAGACCCCCAGTGTTCATTCATTCTGTTGCCCTTCAGATTGAGGAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTACTGGGAGAAGCTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGCAAGCGGGTTCGCAAGCAAGTTAACTACAATGATGCTGCTCAGGAAGACCAAGGTGAGGACTGCCCCAGATGCAGGCAGTAAAGGGGGGAAGTGATGATGAGTAGGGACTTGAAGGCTGGAGCTATTTAGAGGGAAAGAGAGAAGCCTAGAAGTCAGAGCCTTCCTCTGCTAAAAGGGAAAGACATAAGGTAGAGTCATTAGGAACTACCCAGAGGCCAGGTGGGTTTGCAGGAGATTTAAACTCTTCGGTGGTTGCACAGGCATCCTGTGGACACCCAGGGCCATTGCTTAGAGTAGGTTTTGCAGGAGAAGCAGAGGGGCCCAGAGACTGAAGGTGGGCGGTGAATGGAGATGGTGTAGGATATGCGGCTCCCAAGTCAGACTTTGGGCAGTGATCTGGTGTTCCCAGAAGGACCAAGGCCAGAATAAAGGTAGACAAGTCTCGGCAGGGAGGAATCCAGCCAGAAAGGGCCTCAGCATGGGCATATCCCGAGAGCCCTCCCTGACCACTGGGCCCTTTCCACCCCCACAGACAACCAGTCAGAGTACTCGGTGGGTTCAGAGGAGGAGGATGAAGACTTCGATGAACGTCCTGAAGGTGGCATCTGTGTTCCTGACTCTACCTCACCTCTTCCCGTTTTATTTTCCAGTTTGCTTTAAGCCCACTGTTTTTATACAAGTAAAAAAGTCTTCGTGTGTGTGTGGAAAAACTCGATTGCAGATGAGCAGAAAGGAAGAAATATTCATAGTCTCTCTGCTAGTAAACTTCGGTGTGTGTGACCACATAGGCTAGATCCAGAAAGGCCATATCATTTTCCATTCCCACTGGTAATCTGGGCCTTTGTCAGATATCAGCTGTTAATTTTAAAATATGACTGGTTCTTTTAGACTTAGTGGGTTAGTAGTTCTGAAGTGCTTGGGAGAGAATTGGGAGCACCTCAAACGTGACAGGAATGTTCCTGTGTTGTGTATCTTGTGGGAATGGGGTGCTAAGGAGGACTGAGGCTTAGAGGAGGTGGTGGCTCAGCTAACTGATGTCATCCCCACCCTCAGGGCGTAGACAGTCAAAGAGGCAGCTCCGGAATGAGAAAGATAAGCCACTGCCTCCACTGCTGGCCCGAGTCGGGGGCAACATTGAGGTGAGAGCTGGGCCCAGTGTTCCTGAGTTCTCCAAGAGGGCATGAGGGCAGGAGGTTGGAAGTTGGTGCCTGGATCACTGAAGGTAGAAAGGACAAGACCTAAGAACCCTAGACATTTGTCGCCATTGCCTCCTTGCTCCCACCCTCAGGTGCTGGGCTTCAACACCCGTCAGCGGAAGGCTTTCCTCAATGCTGTGATGCGCTGGGGGATGCCACCACAGGATGCCTTCACCACACAGTGGCTGGTGCGGGACCTGAGGGGCAAGACTGAGAAGGAGTTTAAGTGAGTGTGGGTGATACAGGGCTGAGTTGGACGCAAGGGGAAGAGCTTTGGGTGTTCCTTTCTTCCTTGGGGCCGCCATATGATGTGACCTTACTCAACTGATTATCACCCTCCCTGTCATACAATACTTCCTGGCTCGATTTCCTGGGGGGTGGTCTCAGCCCACTCCACCTCCCCTCAGCCGAGCCTAGAGTAGAGGGGCCAGGCATCCTCCCCAGGGGAGGGGCGTTGAAGCAAGGAGCCTCTCCTGGGCTGTCCTAGCCTCACATTTACTTGACCACAATAACCTGGCAGGAGGAGCTGGTGGAAAGGATGAAGAGCTGACTGATGGGGCCCAGGAATTAAGTACCAAGGCCAAAGGGAAAGACCCAGGGGTGGGGCGCAGGGGGACAGTTAGGACTTGGAGGGCTGGTAATGGTGAGAGTGAGAGGCCCAGGGGAGGAGCCCTGGAGCACCTGGGGATTTGGGGGTTTGGGGGTCCTCAGTCATCCTCGCGCCTCCCTCACTGCCCTATACCCCTTCTGTGGCTCCCCTAACCCTCCTCCCACTCCCATGCTCCTTAGGGCCTATGTGTCTTTGTTCATGCGCCATCTGTGTGAGCCTGGGGCAGACGGCTCTGAAACCTTTGC
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GGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTGGGTGTGGGAGGCCTGAGAAACCTGTGATAGGTCCCTGGGATGGGAGGGGGACTGGCTTGGGGGACATTGGAAACTTAGGCTTTGAGTTGGGGGCATGGTTGTTTGTCATCAGAGAACATCTAGGAGCAGGTGGACAGAACTACCGGGTACAAGAAAAACCTGATCCAACTCTCACCTCCTAGCTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGCCTGGGCATCAATCTGGCCACTGCTGACACTGTCATCATCTTTGATTCTGACTGGAACCCCCATAATGACATCCAGGTGGGAACTCGCATCCTAGAACCCCTGCACCATTTAGCAAGGAGATGTGGGTTCATGGAGGAGGGTGTCATGTTCCGGGGTCAGAAATAAATCTCTTCTGGGAGGAGAGAAGGCCCTTCTTCAGCAGCCTTCTTTCCTGAGGCAGCTCTATGGGCAGCTTCTCCCCGGCCACTCCCCTGACCCACCCGCCACTTTCTCTTGCCCCTGCAGGCCTTTAGCCGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATGATTTACCGGTTTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGAAAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGCAGGCTCCATGTCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAAAACGAGGGTGAGAACCTTTTCTGCAGCTCTGTGAAAGCAGGCCCCTGCTCTCTCAGGAGTACTTATCAGCCCCCTGGGGAGAGAAAAACAACTCTTCTCTGCAGCCTTTGAAGGAAGGAGAGCCTTCTTTTAGTAGCCCTTGGAGGAAGGTTGGCCTCTTTCTTTGCCTGTAGGGTTAAAACAAACAAAACAAAAACCTTTCAACATTGGCTCCCGGGGAAAAAGCCTTCTCTAGGGCTCCTGTGAAAAGGACGCAGAGTAGAAGCTTTCCCATCAGCCTTTCTAAACTTTGGAACCCAAAGTTCCCGTTTGTTTTCCCTCTCACCAGGGGAGAACAAGGAGGAGGACAGCAGTGTGATTCATTATGACAATGAGGCCATCGCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAATGAGTATCTCAGCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAGGTGAGAGGCTTTGGGGGCCAGACATTATCTATCCCAGGCCATCTCCAAAAGGCAGTATCCTTTACTCAGCCTTGAAGTAGGAGGGTCTGTCCCCCTTAAAACAGTAGTGGACCTCAAACAACTTCTTCGTCTAATAGGTGAGACTGGACTTCAGAGAGAAACGTAGGCACAGACAGTACTGGTAAACACAGAAGGGTACCTTCTGAGACAGTGCAGGAGAAACACTGTCAGAGGGATTAGAGGAGAGATTTAGAAAACATGAGGAGAGCACATTGCAGGTAAGAGATGGCATGGAACATGCGCAATGTCCAGAAAATGTATGCAGAGCCACGAAGCTGCAGGAGTGGGGAGACCGGATTGGGCTGACGCAGCAGAGTAGGGATTTCCTTGCAGTGGAAGGATTAGCAAAGAAGGAGACCCCCAGTGTTCATTCATTCTGTTGCCCTTCAGATTGAGGAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTACTGGGAGAAGCTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGCAAGTGGGTTCGCAAGCAAGTTAACTACAATGATGCTGCTCAGGAAGACCAAGGTGAGGACTGCCCCAGATGCAGGCAGTAAAGGGGGGAAGTGATGATGAGTAGGGACTTGAAGGCTGGAGCTATTTAGAGGGAAAGAGAGAAGCCTAGAAGTCAGAGCCTTCCTCTGCTAAAAGGGAAAGACATAAGGTAGAGTCATTAGGAACTACCCAGAGGCCAGGTGGGTTTGCAGGAGATTTAAACTCTTCGGTGGTTGCACAGGCATCCTGTGGACACCCAGGGCCATTGCTTAGAGTAGGTTTTGCAGGAGAAGCAGAGGGGCCCAGAGACTGAAGGTGGGCGGTGAATGGAGATGGTGTAGGATATGCGGCTCCCAAGTCAGACTTTGGGCAGTGATCTGGTGTTCCCAGAAGGACCAAGGCCAGAATAAAGGTAGACAAGTCTCGGCAGGGAGGAATCCAGCCAGAAAGGGCCTCAGCATGGGCATATCCCGAGAGCCCTCCCTGACCACTGGGCCCTTTCCACCCCCACAGACAACCAGTCAGAGTACTCGGTGGGTTCAGAGGAGGAGGATGAAGACTTCGATGAACGTCCTGAAGGTGGCATCTGTGTTCCTGACTCTACCTCACCTCTTCCCGTTTTATTTTCCAGTTTGCTTTAAGCCCACTGTTTTTATACAAGTAAAAAAGTCTTCGTGTGTGTGTGGAAAAACTCGATTGCAGATGAGCAGAAAGGAAGAAATATTCATAGTCTCTCTGCTAGTAAACTTCGGTGTGTGTGACCACATAGGCTAGATCCAGAAAGGCCATATCATTTTCCATTCCCACTGGTAATCTGGGCCTTTGTCAGATATCAGCTGTTAATTTTAAAATATGACTGGTTCTTTTAGACTTAGTGGGTTAGTAGTTCTGAAGTGCTTGGGAGAGAATTGGGAGCACCTCAAACGTGACAGGAATGTTCCTGTGTTGTGTATCTTGTGGGAATGGGGTGCTAAGGAGGACTGAGGCTTAGAGGAGGTGGTGGCTCAGCTAACTGATGTCATCCCCACCCTCAGGGCGTAGACAGTCAAAGAGGCAGCTCCGGAATGAGAAAGATAAGCCACTGCCTCCACTGCTGGCCCGAGTCGGGGGCAACATTGAGGTGAGAGCTGGGCCCAGTGTTCCTGAGTTCTCCAAGAGGGCATGAGGGCAGGAGGTTGGAAGTTGGTGCCTGGATCACTGAAGGTAGAAAGGACAAGACCTAAGAACCCTAGACATTTGTCGCCATTGCCTCCTTGCTCCCACCCTCAGGTGCTGGGCTTCAACACCCGTCAGCGGAAGGCTTTCCTCAATGCTGTGATGCGCTGGGGGATGCCACCACAGGATGCCTTCACCACACAGTGGCTGGTGCGGGACCTGAGGGGCAAGACTGAGAAGGAGTTTAAGTGAGTGTGGGTGATACAGGGCTGAGTTGGACGCAAGGGGAAGAGCTTTGGGTGTTCCTTTCTTCCTTGGGGCCGCCATATGATGTGACCTTACTCAACTGATTATCACCCTCCCTGTCATACAATACTTCCTGGCTCGATTTCCTGGGGGGTGGTCTCAGCCCACTCCACCTCCCCTCAGCCGAGCCTAGAGTAGAGGGGCCAGGCATCCTCCCCAGGGGAGGGGCGTTGAAGCAAGGAGCCTCTCCTGGGCTGTCCTAGCCTCACATTTACTTGACCACAATAACCTGGCAGGAGGAGCTGGTGGAAAGGATGAAGAGCTGACTGATGGGGCCCAGGAATTAAGTACCAAGGCCAAAGGGAAAGACCCAGGGGTGGGGCGCAGGGGGACAGTTAGGACTTGGAGGGCTGGTAATGGTGAGAGTGAGAGGCCCAGGGGAGGAGCCCTGGAGCACCTGGGGATTTGGGGGTTTGGGGGTCCTCAGTCATCCTCGCGCCTCCCTCACTGCCCTATACCCCTTCTGTGGCTCCCCTAACCCTCCTCCCACTCCCATGCTCCTTAGGGCCTATGTGTCTTTGTTCATGCGCCATCTGTGTGAGCCTGGGGCAGACGGCTCTGAAACCTTTGC
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Task1_train_23642
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A variant was discovered on Chromosome 17, affecting GUCY2D (guanylate cyclase 2D, retinal). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Leber congenital amaurosis 1
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TTAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCT
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TTAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAGTGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCT
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Task1_train_23643
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Consider this mutation in GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; Leber congenital amaurosis 1
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TTAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCT
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TTAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAGTGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCT
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Task1_train_23644
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The gene GUCY2D (guanylate cyclase 2D, retinal) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Cone-rod dystrophy 6
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TTAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCT
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TTAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAGTGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCT
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Task1_train_23645
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The gene GUCY2D (guanylate cyclase 2D, retinal), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Leber congenital amaurosis 1
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TAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTC
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TAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAAAGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTC
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Task1_train_23646
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The gene GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; GUCY2D-related recessive retinopathy
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AAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCT
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AAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATAACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCT
|
Task1_train_23647
|
A mutation found in GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Leber congenital amaurosis 1
|
AAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCT
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AAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATCACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCT
|
Task1_train_23648
|
A mutation found in GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Cone-rod dystrophy 6
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AAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCT
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AAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATCACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCT
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Task1_train_23649
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A variant was discovered on Chromosome 17, affecting GUCY2D (guanylate cyclase 2D, retinal). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Night blindness, congenital stationary, type1i
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CTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCCGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCTGAGCGTGTGAGTCACCCTTGATTCCTTGAATTCTTCGCCCCCACTTCCAGGCATCAAGCCCTGTTACTGTTACTTCCTAAAGATCATTCGAATTCATCCGCTTTCTCCATCTTTACTGTCACTGCCCTGATTCAGGCCACAGCACCCCCAGCCCAAATCCCAAAACATAATCTCTCAGATGGTCTCTGCTTCAACACTCACCTGCCCAACACCTTTCTCCAGATCAAGCTTCAGAAATCTGACA
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CTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACATTTGCTGTGTTTGTTTCAGTACTGTATATTCTATTTCATTGGTCCATTTGTTTATCCTTGTGCCAAAACTATGAAGTCTTTATTGCCATAGCTTTATAATATATATTTATATAAATATATAATTGCTGTCACTACATAATGTGGATTTATATAAATATATAATATATAATTGCTATAGCTTTATAGTATATATTTATATAATTGCTGTTTTATATATCATATAATTATATAAATATATAATTGCTATGTTTTATATATTATATATTTATGTAGATATATAATTGCTATGTTTTATATATTATATATTTACATAAATACATAATTGCTATTGCTTTATAATAAATTTGTATATCTTATAGGGCATCTTCCATTATACTCTTCTCTAAAATTGTTAGCTATTCTTGCCATCCGGGCAATTATATTCATTTTCACAACAACCCTCAGATTAAGCAATTGCCCAAGGTCCAAAAATCAGCAAGAGGGACTTGGAACCCAGGTCTGTCGGAGGCCAAAGCTCTTTTCATTACTTCCTGAGGGTGGTTTTCTAGGCATGGAGAAGCAGAGGTCAGGGAATCAAGTGTGGCGAGAGAGAGAAGAGAAGTGAAAGAAGAAAGGCAGGTGTCAGCTTGGTGTGGGTTTGGTCTCTGGGATATAGACTTTGCCAGCCAAAGGATGGAGCTTGAACTTAGCTGGCAGAACTGGAAACAGAAGATTGTAAGGAAAGGGACTGGGATCAGTGTTTCTTCTCCAGGACGGATTACCCACAGCTGTCCACGGGCAGGCACTTGTTACTTTCTGGCTGAGCAGGGCAGTGTGGCCGACGGCTGAAAGGGGAAGCTGCGGCTGCTTTTGTGCAGGGGTGGTGGTGATGAGGGTGATGTGGGGGGCTGGAAGGCATGGAGGGGAAAGGATCTGGCTGACTACCTGGAAGCCAGGACAGATCCCACCCCAGAAAGGCGCAGTAGGGGCTCTCATCCTCCACTAGCCCGCCCCTCCCTACCTAATTAAGGACCCTAATCAGCTTGGGGAGATTAAGGGCTCTGGCCGGCTGTACCCACGCCCCCGCCCTGGCCTGGGCTGGCAAGGAAGACCTGTGGGCGGGCGTCAAAAGGGGGACCGGCCCTGTGACCCCTCACCGGGGGCCGTGGGCCCGAGCCCCCGGACTTCCCTGTAAATGTCAGAGGCCCCTCCGCTGGGATAGGGTCGGTCTGAGGGCGCAGGCGAGTCCCTGCTGACCCCTGACGCCTCCGACGGGGGGAGGGGCAGGCCGGGTGGGAGCGGGAAGCCGGGGCGGCAGAAGGGGGCTTCGGGGCGGTGTCCTTGGCCCCAGTTAGTCTTCCCAGCCTCCGGAGGGGGCGGTAGCAGCAGAATCATCCCATGGGTTACTCGGGCTTGGAGAAACTCGGGGTTACGGGGAGAACCCTAGGGGAGGCCGGGGTCTCAGTCGCTCAGCCTGCTCCGTCTGTGTTCGCAGAAGCCGGCAATGACCGCCTGCGCCCGCCGAGCGGGTGGGCTTCCGGACCCCGGGCTCTGCGGTCCCGCGTGGTGGGCTCCGTCCCTGCCCCGCCTCCCCCGGGCCCTGCCCCGGCTCCCGCTCCTGCTGCTCCTGCTTCTGCTGCAGCCCCCCGCCCTCTCCGCCGTGTTCACGGTGGGGGTCCTGGGCCCCTGGGCTTGCGACCCCATCTTCTCTCGGGCTCGCCCGGACCTGGCCGCCCGCCTGGCCGCCGCCTGCCTGAACCGCGACCCCGGCCTGGCAGGCGGTCCCCGCTTCGAGGTAGCGCTGCTGCCCGAGCCTTGCCGGACGCCGGGCTCGCTGGGGGCCGTGTCCTCCGCGCTGGCCCGCGTGTCGGGCCTCGTGGGTCCGGTGAACCCTGCGGCCTGCCGGCCAGCCGAGCTGCTCGCCGAAGAAGCCGGGATCGCGCTGGTGCCCTGGGGCTGCCCCTGGACGCAGGCGGAGGGCACCACGGCCCCTGCCGTGACCCCCGCCGCGGATGCCCTCTACGCCCTGCTTCGCGCATTCGGCTGGGCGCGCGTGGCCCTGGTCACCGCCCCCCAGGACCTGTGGGTGGAGGCGGGACGCTCACTGTCCACGGCACTCAGGGCCCGGGGCCTGCCTGTCGCCTCCGTGACTTCCATGGAGCCCTTGGACCTGTCTGGAGCCCGGGAGGCCCTGAGGAAGGTTCGGGACGGGCCCAGGGTCACAGGTAGGCTCCCTTGCAGGGTGCGAGGAGGTCGGCTGGTCCTGCCGGCAGCCGGACGGCGCCGCGAGCCAAGCCTCTGTCCGCAGCAGTGATCATGGTGATGCACTCGGTGCTGCTGGGTGGCGAGGAGCAGCGCTACCTCCTGGAGGCCGCAGAGGAGCTGGGCCTGACCGATGGCTCCCTGGTCTTCCTGCCCTTCGACACGATCCACTACGCCTTGTCCCCAGGCCCGGAGGCCTTGGCCGCACTCGCCAACAGCTCCCAGCTTCGCAGGGCCCACGATGCCGTGCTCACCCTCACGCGCCACTGTCCCTCTGAAGGCAGCGTGCTGGACAGCCTGCGCAGGGCTCAAGAGCGCCGCGAGCTGCCCTCTGACCTCAATCTGCAGCAGGTAGACGGTCCCGGGAGGAGGGAAGAAGGCAAGGGAGAGGGGAGAGGACAGCCAAAGCAGGGAGAGGAGGATGCAGCCAATGGAGAAAGAACCACTGGCAGCTCTAGCTGTTTGGAGTTTCCTGGGTAATGTAGAGGCTCTGGCCCCACTTGGGGTCTCTTAGTGTACGAGGATTGCCTCTAGAGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCTGAGCGTGTGAGTCACCCTTGATTCCTTGAATTCTTCGCCCCCACTTCCAGGCATCAAGCCCTGTTACTGTTACTTCCTAAAGATCATTCGAATTCATCCGCTTTCTCCATCTTTACTGTCACTGCCCTGATTCAGGCCACAGCACCCCCAGCCCAAATCCCAAAACATAATCTCTCAGATGGTCTCTGCTTCAACACTCACCTGCCCAACACCTTTCTCCAGATCAAGCTTCAGAAATCTGACA
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Task1_train_23650
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A variant affecting Chromosome 17, within the gene GUCY2D (guanylate cyclase 2D, retinal), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; GUCY2D-related recessive retinopathy
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AGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCTGAGCGTGTGAGTCACCCTTGATTCCTTGAATTCTTCGCCCCCACTTCCAGGCATCAAGCCCTGTTACTGTTACTTCCTAAAGATCATTCGAATTCATCCGCTTTCTCCATCTTTACTGTCACTGCCCTGATTCAGGCCACAGCACCCCCAGCCCAAATCCCAAAACATAATCTCTCAGATGGTCTCTGCTTCAACACTCACCTGCCCAACACCTTTCTCCAGATCAAGCTTCAGAAATCTGACAGATCTCACCCTGTCATGCCCCTGTTCAAAGCCTCACAGTGGCTTCTGTTGCCCTGGATAGATGCAGGCCTCTCCACATGGCTTACCAGGTCACCTGTCTTTCTCTCTCTTCCACCTCCCATGAACTTCAGCCAGACCAAGCTACTCTGGGTTCTTGGAATGTGTCCTTCTCTTTTGCCTCTGAGCTTCTGAGTGTGCTGTTTCCTCTCTCTTGTCCCTGCCTCCCCTGGATAATTCTGACTCATCCCCTGAAGGATGGTCACTTCTAACAGCTCCTTCTCTGTCCACAGCCTAGGGTGGGGACACCCATTCCTGTCTCTGCAGCTCCCTCAGTTTCCCCTACTTTTACTCATTGCACTGCCTGAACACCCCTGTCTCTTTGGCAAGAAGAAAGGTTCCTTGAGACGGGGTCTGTCTTGTACACTGATACATCTTTAGTGCTCTGCACAGTGCCTGGCTCTCTGAGAGATGGCAACTGGGAATAATAGAGAAGCCTGATAAGATCGGGTGGTAACAATAGAGAAGGTTTTTTGTTTGTTTTTTGTTTAGTTTTTTTGTTTGTTTGTTTGTTTTTTTAAGGAACAACAGAAAATAGAAGCCAACCAAAAGATAGGTGAGAAGGCTTTTAGGTGAATGGTAGGTGATGAGGTTAAAACTATATGCTGGGCAACCAACAGGAAGAAGAGAGGACCTACAGGTGATGGAGAATTAGAATCAACCAATGGTCAGAGAGGAGGCTGAGTCCTGAAAAGAGGAACCAGTTAGTGGGGAGAGCAGGTGTGACAGCCAATAGGAGAGGGAGGAAGAGAGAGCCAGTGGGGAGGGAGGAAGAGAGAGCCAATGGGGAGGGAGGAAGAGAGCCAATGGGGAGGGAGGAAGAGATAGCCAATGGGGAGGGATCCTGGGAACAACTAACTGGAAGGTGGCAACAGTGGATACCCTGGGCTTGACAGGCAGTGAAAGAATCTGGTCTGTCTGTGGGCTGTGACCCCGACCTCTGAGCCCCTACTCTCCTTCTCCAGGTCTCCCCACTCTTTGGCACCATCTATGACGCGGTCTTCTTGCTGGCAAGGGGCGTGGCAGAAGCGCGGGCTGCCGCAGGTGGCAGATGGGTGTCCGGAGCAGCTGTGGCCCGCCACATCCGGGATGCGCAGGTCCCTGGCTTCTGCGGGGACCTAGGAGGAGACGAGGAGCCCCCATTCGTGCTGCTAGACACGGACGCGGCGGGAGACCGGCTTTTTGCCACATACATGCTGGATCCTGCCCGGGGCTCCTTCCTCTCCGCCGGTACCCGGATGCACTTCCCGCGTGGGGGATCAGCACCCGGACCTGACCCCTCGTGCTGGTTCGATCCAAACAACATCTGCGGTGGAGGTGAGGGCGAGCACCCCAGTCCCCACTGAGACAATCGCCATGGACCATCCACAAAGTGATGAAAGAGAGTGGACTCCTATCCTGTAATCCGTCTTCGATGCCCTTCTAGGCCCTCTCCCAGCCTCTGGCTTGCACAGGACCCCTCTCTTGCTGAGCTCCAAAGCCCTCTTGGAAATTTTCTATCATTCCCAGCCTCTCCCCTTTGAGGAACTATGACCTACCCCTAGAGCCTCTCTGGGCCCCCATCCCCCTTTCCTGGAGGGGCCAGCATGTGGCATGCCTCCCTAGAGAAGAGGCCTCCCCTGGCATCGCTCCTCAGTATACCTCCTGTCACTGTCCCTTCAGGACTGGAGCCGGGCCTCGTCTTTCTTGGCTTCCTCCTGGTGGTTGGGATGGGGCTGGCTGGGGCCTTCCTGGCCCATTATGTGAGGTGAGTAGTGGAATGAGGTAAGTAGGAAGTGAGCTTGTGCCAGAAATGGAAGTCTGCAGCAAAAACAGCAGGCTGGGTTCACTCAGGAGTAGAGGAGGAGATTTTTCTTGGGGTGAGGGTGTTCTGGTGGGCTGGTAGAGTCCCAGGGGATGTGTGCTTTGGGGATGGCTGCCCTCCAGGACCCCTCCCCTGAGCCAACGTTATCCCTCCCCCGCATCCCCTGCTGGTCTCTTCTGACGGAACTTGGTGCCCTTGGTGGAGGTGACCTCTTTCTCCACCAGGCACCGGCTACTTCACATGCAAATGGTCTCCGGCCCCAACAAGATCATCCTGACCGTGGACGACATCACCTTTCTCCACCCACATGGGGGCACCTCTCGAAAGGTGGGGGAGGCAGAGAGGCAGGAGCCAGTTGTCTTCTTTCCGTAAATTTGGTTCCTTCCCTGGGCCAGTCCCGACCCCAGCTCCCTACTTGGGAAGCCTGATTTCTACCCCAGTTCTGTCCCACGTCTGAAGTCTAGGGATCAGCACCCTCATCTGTGCAATGAGGGTAACAGTACCTGTCCTGACTACTTTCCTGGCGGGGAGGTGAAGCTCCAACAAGAAAATGAATGTTTGCTTTGTAAACTGTAAAGCGTGCACTTGGGGAGTAATGTCATTATCACCTTCCCTCATTGAGATTCCTTCGCCTCCCATCTTTAAATCCCCAAAACTCAGCCTGACCTCAACCCAGGACTCTGACACCAGAATATATTTTGACCTCTTGCATTGACCTCTACCTGCTAGGTGGCCCAGGGGAGTCGATCAAGTCTGGGTGCCCGCAGCATGTCAGACATTCGCAGCGGCCCCAGCCAACACTTGGACAGCCCCAACATTGGTGTCTATGAGGTGAGCCTGACCCCAGCCAGACAGAGAGACAGTGGGGGAAGAATGCTCAGGCCCTGGGCAGAGGGGAGGCGCACTCTCAGGAGGACATGTAGTCATGTCAAATCCTGCAGGCTCCAGGAGATGGGGGATGGGAGCCCAGACAGGATCTAGGGAAAGGTCATGGATCCCTCAAAGGGAAGCACCTAGGAATCTTCCCTCCCCAAGGATTTTTCTCTAGCCACTATCTGGGTAAGGGCTCCTCAAAAGCTAACCACAGTGACCCAGAGACTGGAGGCTGGAGCTGCCAGGGAGCATGCTGGGACCAGCAGGTAACATGGTGTGGCCACTGAGACCATCTCCGGCCTGGTCAGAGCCTCTGGCCCTGCCCCTCAGCATTTCCACCCAATTCAGACCAGACTCAGGA
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AGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTATTTCCAACATCCAGCTAATACCTAGGGATCCCCAAGTCCCCAGAATCCCAGTTCAGATCATCTAACTTTACTCCCGCCACAAAGGGGGACTAGAAACCACTATGAGAAGGGAATTTAGATGTCAACGGGCAGTGAATTAACCACCACAAAGGTCCAACTCACAGGCGGCTGCATGAGAGAAGGGTCGTAGGGGTTGCAATTTCCCATCGATGCCCCTAGATTCTTCCAAGAGGATTGGAGGTGTCCAATGGAGGGGGGAGGGGTGCAGTGATGGGAATAGTCAGAAGAGAATACAAGATAGGAATCATAATGAGATGGGATGGAGGGAGGGTCGGTCAGTGGAGAGAGGGAGGTTGAGAAAGTAGAGAGAGAAAAGCCCTTCAGCTCTCAGTAAGTACCACAGCAGTCCTCTCCACTGCCCAAACTGCGCAAGCCTCTGAGCGTGTGAGTCACCCTTGATTCCTTGAATTCTTCGCCCCCACTTCCAGGCATCAAGCCCTGTTACTGTTACTTCCTAAAGATCATTCGAATTCATCCGCTTTCTCCATCTTTACTGTCACTGCCCTGATTCAGGCCACAGCACCCCCAGCCCAAATCCCAAAACATAATCTCTCAGATGGTCTCTGCTTCAACACTCACCTGCCCAACACCTTTCTCCAGATCAAGCTTCAGAAATCTGACAGATCTCACCCTGTCATGCCCCTGTTCAAAGCCTCACAGTGGCTTCTGTTGCCCTGGATAGATGCAGGCCTCTCCACATGGCTTACCAGGTCACCTGTCTTTCTCTCTCTTCCACCTCCCATGAACTTCAGCCAGACCAAGCTACTCTGGGTTCTTGGAATGTGTCCTTCTCTTTTGCCTCTGAGCTTCTGAGTGTGCTGTTTCCTCTCTCTTGTCCCTGCCTCCCCTGGATAATTCTGACTCATCCCCTGAAGGATGGTCACTTCTAACAGCTCCTTCTCTGTCCACAGCCTAGGGTGGGGACACCCATTCCTGTCTCTGCAGCTCCCTCAGTTTCCCCTACTTTTACTCATTGCACTGCCTGAACACCCCTGTCTCTTTGGCAAGAAGAAAGGTTCCTTGAGACGGGGTCTGTCTTGTACACTGATACATCTTTAGTGCTCTGCACAGTGCCTGGCTCTCTGAGAGATGGCAACTGGGAATAATAGAGAAGCCTGATAAGATCGGGTGGTAACAATAGAGAAGGTTTTTTGTTTGTTTTTTGTTTAGTTTTTTTGTTTGTTTGTTTGTTTTTTTAAGGAACAACAGAAAATAGAAGCCAACCAAAAGATAGGTGAGAAGGCTTTTAGGTGAATGGTAGGTGATGAGGTTAAAACTATATGCTGGGCAACCAACAGGAAGAAGAGAGGACCTACAGGTGATGGAGAATTAGAATCAACCAATGGTCAGAGAGGAGGCTGAGTCCTGAAAAGAGGAACCAGTTAGTGGGGAGAGCAGGTGTGACAGCCAATAGGAGAGGGAGGAAGAGAGAGCCAGTGGGGAGGGAGGAAGAGAGAGCCAATGGGGAGGGAGGAAGAGAGCCAATGGGGAGGGAGGAAGAGATAGCCAATGGGGAGGGATCCTGGGAACAACTAACTGGAAGGTGGCAACAGTGGATACCCTGGGCTTGACAGGCAGTGAAAGAATCTGGTCTGTCTGTGGGCTGTGACCCCGACCTCTGAGCCCCTACTCTCCTTCTCCAGGTCTCCCCACTCTTTGGCACCATCTGTGACGCGGTCTTCTTGCTGGCAAGGGGCGTGGCAGAAGCGCGGGCTGCCGCAGGTGGCAGATGGGTGTCCGGAGCAGCTGTGGCCCGCCACATCCGGGATGCGCAGGTCCCTGGCTTCTGCGGGGACCTAGGAGGAGACGAGGAGCCCCCATTCGTGCTGCTAGACACGGACGCGGCGGGAGACCGGCTTTTTGCCACATACATGCTGGATCCTGCCCGGGGCTCCTTCCTCTCCGCCGGTACCCGGATGCACTTCCCGCGTGGGGGATCAGCACCCGGACCTGACCCCTCGTGCTGGTTCGATCCAAACAACATCTGCGGTGGAGGTGAGGGCGAGCACCCCAGTCCCCACTGAGACAATCGCCATGGACCATCCACAAAGTGATGAAAGAGAGTGGACTCCTATCCTGTAATCCGTCTTCGATGCCCTTCTAGGCCCTCTCCCAGCCTCTGGCTTGCACAGGACCCCTCTCTTGCTGAGCTCCAAAGCCCTCTTGGAAATTTTCTATCATTCCCAGCCTCTCCCCTTTGAGGAACTATGACCTACCCCTAGAGCCTCTCTGGGCCCCCATCCCCCTTTCCTGGAGGGGCCAGCATGTGGCATGCCTCCCTAGAGAAGAGGCCTCCCCTGGCATCGCTCCTCAGTATACCTCCTGTCACTGTCCCTTCAGGACTGGAGCCGGGCCTCGTCTTTCTTGGCTTCCTCCTGGTGGTTGGGATGGGGCTGGCTGGGGCCTTCCTGGCCCATTATGTGAGGTGAGTAGTGGAATGAGGTAAGTAGGAAGTGAGCTTGTGCCAGAAATGGAAGTCTGCAGCAAAAACAGCAGGCTGGGTTCACTCAGGAGTAGAGGAGGAGATTTTTCTTGGGGTGAGGGTGTTCTGGTGGGCTGGTAGAGTCCCAGGGGATGTGTGCTTTGGGGATGGCTGCCCTCCAGGACCCCTCCCCTGAGCCAACGTTATCCCTCCCCCGCATCCCCTGCTGGTCTCTTCTGACGGAACTTGGTGCCCTTGGTGGAGGTGACCTCTTTCTCCACCAGGCACCGGCTACTTCACATGCAAATGGTCTCCGGCCCCAACAAGATCATCCTGACCGTGGACGACATCACCTTTCTCCACCCACATGGGGGCACCTCTCGAAAGGTGGGGGAGGCAGAGAGGCAGGAGCCAGTTGTCTTCTTTCCGTAAATTTGGTTCCTTCCCTGGGCCAGTCCCGACCCCAGCTCCCTACTTGGGAAGCCTGATTTCTACCCCAGTTCTGTCCCACGTCTGAAGTCTAGGGATCAGCACCCTCATCTGTGCAATGAGGGTAACAGTACCTGTCCTGACTACTTTCCTGGCGGGGAGGTGAAGCTCCAACAAGAAAATGAATGTTTGCTTTGTAAACTGTAAAGCGTGCACTTGGGGAGTAATGTCATTATCACCTTCCCTCATTGAGATTCCTTCGCCTCCCATCTTTAAATCCCCAAAACTCAGCCTGACCTCAACCCAGGACTCTGACACCAGAATATATTTTGACCTCTTGCATTGACCTCTACCTGCTAGGTGGCCCAGGGGAGTCGATCAAGTCTGGGTGCCCGCAGCATGTCAGACATTCGCAGCGGCCCCAGCCAACACTTGGACAGCCCCAACATTGGTGTCTATGAGGTGAGCCTGACCCCAGCCAGACAGAGAGACAGTGGGGGAAGAATGCTCAGGCCCTGGGCAGAGGGGAGGCGCACTCTCAGGAGGACATGTAGTCATGTCAAATCCTGCAGGCTCCAGGAGATGGGGGATGGGAGCCCAGACAGGATCTAGGGAAAGGTCATGGATCCCTCAAAGGGAAGCACCTAGGAATCTTCCCTCCCCAAGGATTTTTCTCTAGCCACTATCTGGGTAAGGGCTCCTCAAAAGCTAACCACAGTGACCCAGAGACTGGAGGCTGGAGCTGCCAGGGAGCATGCTGGGACCAGCAGGTAACATGGTGTGGCCACTGAGACCATCTCCGGCCTGGTCAGAGCCTCTGGCCCTGCCCCTCAGCATTTCCACCCAATTCAGACCAGACTCAGGA
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Task1_train_23651
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The gene GUCY2D (guanylate cyclase 2D, retinal) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; GUCY2D-related recessive retinopathy
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GGACGACATCACCTTTCTCCACCCACATGGGGGCACCTCTCGAAAGGTGGGGGAGGCAGAGAGGCAGGAGCCAGTTGTCTTCTTTCCGTAAATTTGGTTCCTTCCCTGGGCCAGTCCCGACCCCAGCTCCCTACTTGGGAAGCCTGATTTCTACCCCAGTTCTGTCCCACGTCTGAAGTCTAGGGATCAGCACCCTCATCTGTGCAATGAGGGTAACAGTACCTGTCCTGACTACTTTCCTGGCGGGGAGGTGAAGCTCCAACAAGAAAATGAATGTTTGCTTTGTAAACTGTAAAGCGTGCACTTGGGGAGTAATGTCATTATCACCTTCCCTCATTGAGATTCCTTCGCCTCCCATCTTTAAATCCCCAAAACTCAGCCTGACCTCAACCCAGGACTCTGACACCAGAATATATTTTGACCTCTTGCATTGACCTCTACCTGCTAGGTGGCCCAGGGGAGTCGATCAAGTCTGGGTGCCCGCAGCATGTCAGACATTCGCAGCGGCCCCAGCCAACACTTGGACAGCCCCAACATTGGTGTCTATGAGGTGAGCCTGACCCCAGCCAGACAGAGAGACAGTGGGGGAAGAATGCTCAGGCCCTGGGCAGAGGGGAGGCGCACTCTCAGGAGGACATGTAGTCATGTCAAATCCTGCAGGCTCCAGGAGATGGGGGATGGGAGCCCAGACAGGATCTAGGGAAAGGTCATGGATCCCTCAAAGGGAAGCACCTAGGAATCTTCCCTCCCCAAGGATTTTTCTCTAGCCACTATCTGGGTAAGGGCTCCTCAAAAGCTAACCACAGTGACCCAGAGACTGGAGGCTGGAGCTGCCAGGGAGCATGCTGGGACCAGCAGGTAACATGGTGTGGCCACTGAGACCATCTCCGGCCTGGTCAGAGCCTCTGGCCCTGCCCCTCAGCATTTCCACCCAATTCAGACCAGACTCAGGAATAGCAACCCCTAGAGGGGGAAAAGAAAGTCACAAAAAAGTATTAGGACATTAACTTTGGGGCTGGTAAATCTGAATGCGGTCAAGTGGAGGGGAGATGATGAGAACAGATTGAGAGAGAGCTGAGAGTGCTGAGCAAATCAAGAGAGTAGAAATTTAGAGCTCCTGGGCTTCAGGTCATGGGAAGGAATGCAGAGGCTCCTATCATGTCACCTAGAGATCATCATGGCCAATTCTCAGAGGAGGCACTATTGTCATTTGGGGCAGATTGTCCTAAATTGTATGGGACTACTCTGTGCCTTGAAGAATATTTAGTGTTTCTTGTCTCTGGCCCTGTCCACTAATGCAGCTCCTAGTTTTTGTGACAGTTAAAACTTTCCCCACATTTATTTCCAAATGCTCCTTAGGGGTCAGTACTAAACCCCAATTCCCTTCTAAATTCCCTTCTAGTCCAAATCCCTTATAAACAAGACAGGGCCACCTGCATAATTAGCGAGATCCAGGGCAAGATAGAAATGAGGGGCTCCTCGTTCATTCATGATGATGGCAGGAGGTCATTGAACCAAGCTTGGGCCCTTCGGAGCACGAGGCCCTGTGTGACTGCACAGGTCCCATGCCTGTGAACCGGCCCTGCCAACAGTTGAGGATGAGGTCCAGCATCAGGAGGGGAGCTGTCTATAGTTCAGTTAGTTTTCAATAAAGCCTGATCTACCCAGATTTTTTACTCCCAGAACATGTTCTCTCATGGCAGTGGATGGTAATGAGGGTTGTGATGTCGATGACACTTGTGGTTGTATTAATGCACTTAATAGGACTATTGGTGGGCACAGCTGGGTTGGTGAGGACAGCCATCCATGGCTTCAGAATCTCTGTCATCCAGGGGTGGGCCCTCTCCCAGATGGCTGTGAAGTGGATGGGCATACATCAAACCCCTTGGTTCAATGCATTTTGTCACATGGAAGATGCATTCTGGGACAGTGAGCCAATGGAAATGAGGGGGAGGGGTTCTAGGGCTCCCCATCGTGGGATTTTAAGAGACTGAGTTCCCTACCCCCATCCTCTTTGCTGCAGGGAGACAGGGTTTGGCTGAAGAAATTCCCAGGGGATCAGCACATAGCTATCCGCCCAGCAACCAAGACGGCCTTCTCCAAGGTGAGACTTGGGCCTGTGATGGGGCCTAGGTGGCCATCGGTTTCTCCCTCCTTGCCTTCTCTTTGCAGCTGGGTACAGAGGTAGGTCTCAGTTAAGTGTCCCCTCTGGCTGAGTGTGGTGGCTCATACGTGTAATCCTGGCACTTTGAGAGGCAGATGTGAGGGAGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAAAGAAACCCTATCTCTCCAAAAATTTTAAAATTAGCTGGGTGTGGCGTTACATGCCTGTAGTCCCAGCTACTCTTCAGAGGGTGAGGAGGGAGGATTATTTGAGCCTGGGAGTTGGAGGTTACCGTGGGCTGTGATCATACTACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCAAAATTAAGAAAGAAAAAAAAAAACATGTTTCCTCCACCCTGGAGTAGGCTTTCATTATTCTCTGCCACACCACTAGTTCTTTCCTTTGATCTTGTTGCAATGTGCAATTGTATGTTCATCTGTCTGCCTGCTTGTTTCTGCCTCTCTCGCTGGACTGTAAGCTGAGTGAGGGCCTCCTCACTCCCCTCCATTGTAATCAAGCACCCAACACAGTGTCTGGAACATTAGAGAGACCCAGTGAATGTTTGTTGATCTAATGATAGAAAATAAAAAATGAGTTTCCGGTTCTGTCAGGCCACTTGTGCAGAATAGCCCTGGACATTCTGAATGAAGTGCAAAGTTGGCAAGGAGGCTGTAAATGGCTTATTCTGGTCCTTACAACCTTAATGTCTCCCTTTATCTCCATGCCATGCAGCCTGGGCCTGGCCTTCTTCCCTGATTCCTCTACAGGAGCTCTTGGTCACAGATGCAGTGACTTAAGTGGACTATGTGTATGGGGATTAATGAACTCGATCACCATTTAATACCAGGTGTTTAAAATGAAAAGTATCTGGGCGCGGTGGCTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGTGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTAAGCCGAGATCGCGGCACTGCACTTCAGCCTGGGCGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAGGAAAGGAAAGAAAAGTATCCCCTTATTGGGCATGTGGAGGGAAAAGCTAGAAAGGGCACCAGTCAGCCAGCTAAGCCACCTTTTTTTCTAGCATGCCCCGATTGTGAGGGCACTGTCCTGCAGAGCAGTCAGTCCTGTCTTCCCTAACTGAGGGAGGGTGGGAGTCTCAGACCCGACTGACACAATGACGTAACGCCAAGCAGAGCAGCCCCCGGCCAGGTTGCAGGCACACGCCATTTCTGGTGTCCTTTGAAAGTGGCACAGCTTCAGGCCGGGCACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGACCACCTGAGGTCAGGAGTTCGAGACCAGACTGGCCAACATAGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCACACACCTGTAATCCCAGCTATTCGGGAGGCTGAGACGGGAGAATCGCTTGAGCTCAGGATGCGGAGGTTGCAGTGACCCGAGATTGCACGACTGCAATCCAGCCTGGGTGACAGAGTAAGAATCTGTCTAAAAAAAAAATACATAAACAAAAGAAAAGAAAGAAAGTGGCACCGCTCCTCCCTGGCTCTCCCAGCAAAGGCTGTTAAATCAGGAGAGGATGGTGGTTCCAGGAGCTTCTCCTTCATGAGCTGCTTCCCTTAAGACCCAGGCAGTTCAGAGTTTTATGGCTGGGGCCAGGTGTGGTGGCTCAGGCCTATAATCCCAGCACT
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GGACGACATCACCTTTCTCCACCCACATGGGGGCACCTCTCGAAAGGTGGGGGAGGCAGAGAGGCAGGAGCCAGTTGTCTTCTTTCCGTAAATTTGGTTCCTTCCCTGGGCCAGTCCCGACCCCAGCTCCCTACTTGGGAAGCCTGATTTCTACCCCAGTTCTGTCCCACGTCTGAAGTCTAGGGATCAGCACCCTCATCTGTGCAATGAGGGTAACAGTACCTGTCCTGACTACTTTCCTGGCGGGGAGGTGAAGCTCCAACAAGAAAATGAATGTTTGCTTTGTAAACTGTAAAGCGTGCACTTGGGGAGTAATGTCATTATCACCTTCCCTCATTGAGATTCCTTCGCCTCCCATCTTTAAATCCCCAAAACTCAGCCTGACCTCAACCCAGGACTCTGACACCAGAATATATTTTGACCTCTTGCATTGACCTCTACCTGCTAGGTGGCCCAGGGGAGTCGATCAAGTCTGGGTGCCCGCAGCATGTCAGACATTCGCAGCGGCCCCAGCCAACACTTGGACAGCCCCAACATTGGTGTCTATGAGGTGAGCCTGACCCCAGCCAGACAGAGAGACAGTGGGGGAAGAATGCTCAGGCCCTGGGCAGAGGGGAGGCGCACTCTCAGGAGGACATGTAGTCATGTCAAATCCTGCAGGCTCCAGGAGATGGGGGATGGGAGCCCAGACAGGATCTAGGGAAAGGTCATGGATCCCTCAAAGGGAAGCACCTAGGAATCTTCCCTCCCCAAGGATTTTTCTCTAGCCACTATCTGGGTAAGGGCTCCTCAAAAGCTAACCACAGTGACCCAGAGACTGGAGGCTGGAGCTGCCAGGGAGCATGCTGGGACCAGCAGGTAACATGGTGTGGCCACTGAGACCATCTCCGGCCTGGTCAGAGCCTCTGGCCCTGCCCCTCAGCATTTCCACCCAATTCAGACCAGACTCAGGAATAGCAACCCCTAGAGGGGGAAAAGAAAGTCACAAAAAAGTATTAGGACATTAACTTTGGGGCTGGTAAATCTGAATGCGGTCAAGTGGAGGGGAGATGATGAGAACAGATTGAGAGAGAGCTGAGAGTGCTGAGCAAATCAAGAGAGTAGAAATTTAGAGCTCCTGGGCTTCAGGTCATGGGAAGGAATGCAGAGGCTCCTATCATGTCACCTAGAGATCATCATGGCCAATTCTCAGAGGAGGCACTATTGTCATTTGGGGCAGATTGTCCTAAATTGTATGGGACTACTCTGTGCCTTGAAGAATATTTAGTGTTTCTTGTCTCTGGCCCTGTCCACTAATGCAGCTCCTAGTTTTTGTGACAGTTAAAACTTTCCCCACATTTATTTCCAAATGCTCCTTAGGGGTCAGTACTAAACCCCAATTCCCTTCTAAATTCCCTTCTAGTCCAAATCCCTTATAAACAAGACAGGGCCACCTGCATAATTAGCGAGATCCAGGGCAAGATAGAAATGAGGGGCTCCTCGTTCATTCATGATGATGGCAGGAGGTCATTGAACCAAGCTTGGGCCCTTCGGAGCACGAGGCCCTGTGTGACTGCACAGGTCCCATGCCTGTGAACCGGCCCTGCCAACAGTTGAGGATGAGGTCCAGCATCAGGAGGGGAGCTGTCTATAGTTCAGTTAGTTTTCAATAAAGCCTGATCTACCCAGATTTTTTACTCCCAGAACATGTTCTCTCATGGCAGTGGATGGTAATGAGGGTTGTGATGTCGATGACACTTGTGGTTGTATTAATGCACTTAATAGGACTATTGGTGGGCACAGCTGGGTTGGTGAGGACAGCCATCCATGGCTTCAGAATCTCTGTCATCCAGGGGTGGGCCCTCTCCCAGATGGCTGTGAAGTGGATGGGCATACATCAAACCCCTTGGTTCAATGCATTTTGTCACATGGAAGATGCATTCTGGGACAGTGAGCCAATGGAAATGAGGGGGAGGGGTTCTAGGGCTCCCCATCGTGGGATTTTAAGAGACTGAGTTCCCTACCCCCATCCTCTTTGCTGCAGGGAGACAGGGTTTGGCTGAAGAAATCCCCAGGGGATCAGCACATAGCTATCCGCCCAGCAACCAAGACGGCCTTCTCCAAGGTGAGACTTGGGCCTGTGATGGGGCCTAGGTGGCCATCGGTTTCTCCCTCCTTGCCTTCTCTTTGCAGCTGGGTACAGAGGTAGGTCTCAGTTAAGTGTCCCCTCTGGCTGAGTGTGGTGGCTCATACGTGTAATCCTGGCACTTTGAGAGGCAGATGTGAGGGAGGATCACCTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAAAGAAACCCTATCTCTCCAAAAATTTTAAAATTAGCTGGGTGTGGCGTTACATGCCTGTAGTCCCAGCTACTCTTCAGAGGGTGAGGAGGGAGGATTATTTGAGCCTGGGAGTTGGAGGTTACCGTGGGCTGTGATCATACTACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCTGTCAAAATTAAGAAAGAAAAAAAAAAACATGTTTCCTCCACCCTGGAGTAGGCTTTCATTATTCTCTGCCACACCACTAGTTCTTTCCTTTGATCTTGTTGCAATGTGCAATTGTATGTTCATCTGTCTGCCTGCTTGTTTCTGCCTCTCTCGCTGGACTGTAAGCTGAGTGAGGGCCTCCTCACTCCCCTCCATTGTAATCAAGCACCCAACACAGTGTCTGGAACATTAGAGAGACCCAGTGAATGTTTGTTGATCTAATGATAGAAAATAAAAAATGAGTTTCCGGTTCTGTCAGGCCACTTGTGCAGAATAGCCCTGGACATTCTGAATGAAGTGCAAAGTTGGCAAGGAGGCTGTAAATGGCTTATTCTGGTCCTTACAACCTTAATGTCTCCCTTTATCTCCATGCCATGCAGCCTGGGCCTGGCCTTCTTCCCTGATTCCTCTACAGGAGCTCTTGGTCACAGATGCAGTGACTTAAGTGGACTATGTGTATGGGGATTAATGAACTCGATCACCATTTAATACCAGGTGTTTAAAATGAAAAGTATCTGGGCGCGGTGGCTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGTGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTAAGCCGAGATCGCGGCACTGCACTTCAGCCTGGGCGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAGGAAAGGAAAGAAAAGTATCCCCTTATTGGGCATGTGGAGGGAAAAGCTAGAAAGGGCACCAGTCAGCCAGCTAAGCCACCTTTTTTTCTAGCATGCCCCGATTGTGAGGGCACTGTCCTGCAGAGCAGTCAGTCCTGTCTTCCCTAACTGAGGGAGGGTGGGAGTCTCAGACCCGACTGACACAATGACGTAACGCCAAGCAGAGCAGCCCCCGGCCAGGTTGCAGGCACACGCCATTTCTGGTGTCCTTTGAAAGTGGCACAGCTTCAGGCCGGGCACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGACCACCTGAGGTCAGGAGTTCGAGACCAGACTGGCCAACATAGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCACACACCTGTAATCCCAGCTATTCGGGAGGCTGAGACGGGAGAATCGCTTGAGCTCAGGATGCGGAGGTTGCAGTGACCCGAGATTGCACGACTGCAATCCAGCCTGGGTGACAGAGTAAGAATCTGTCTAAAAAAAAAATACATAAACAAAAGAAAAGAAAGAAAGTGGCACCGCTCCTCCCTGGCTCTCCCAGCAAAGGCTGTTAAATCAGGAGAGGATGGTGGTTCCAGGAGCTTCTCCTTCATGAGCTGCTTCCCTTAAGACCCAGGCAGTTCAGAGTTTTATGGCTGGGGCCAGGTGTGGTGGCTCAGGCCTATAATCCCAGCACT
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Task1_train_23652
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The variant affects gene GUCY2D (guanylate cyclase 2D, retinal), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Leber congenital amaurosis
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TCACAGATGCAGTGACTTAAGTGGACTATGTGTATGGGGATTAATGAACTCGATCACCATTTAATACCAGGTGTTTAAAATGAAAAGTATCTGGGCGCGGTGGCTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGTGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTAAGCCGAGATCGCGGCACTGCACTTCAGCCTGGGCGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAGGAAAGGAAAGAAAAGTATCCCCTTATTGGGCATGTGGAGGGAAAAGCTAGAAAGGGCACCAGTCAGCCAGCTAAGCCACCTTTTTTTCTAGCATGCCCCGATTGTGAGGGCACTGTCCTGCAGAGCAGTCAGTCCTGTCTTCCCTAACTGAGGGAGGGTGGGAGTCTCAGACCCGACTGACACAATGACGTAACGCCAAGCAGAGCAGCCCCCGGCCAGGTTGCAGGCACACGCCATTTCTGGTGTCCTTTGAAAGTGGCACAGCTTCAGGCCGGGCACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGACCACCTGAGGTCAGGAGTTCGAGACCAGACTGGCCAACATAGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCACACACCTGTAATCCCAGCTATTCGGGAGGCTGAGACGGGAGAATCGCTTGAGCTCAGGATGCGGAGGTTGCAGTGACCCGAGATTGCACGACTGCAATCCAGCCTGGGTGACAGAGTAAGAATCTGTCTAAAAAAAAAATACATAAACAAAAGAAAAGAAAGAAAGTGGCACCGCTCCTCCCTGGCTCTCCCAGCAAAGGCTGTTAAATCAGGAGAGGATGGTGGTTCCAGGAGCTTCTCCTTCATGAGCTGCTTCCCTTAAGACCCAGGCAGTTCAGAGTTTTATGGCTGGGGCCAGGTGTGGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCATTTGAAGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGGCTCCCATCTCTACAGAAAAAAAATTTTAAATGTTATCTAGGCATGGTGGCACAAGCCTGTAGTCCCAGCTATTCAGGAGGCTGAGGTAGGAGGATCACTTGAACCAAGGAATGAAAGGTAGCAGTGATTTATGATCATGCCGCTGCACTCCAGTCTGGGCAACAGAGTGAGACCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAAAGTTGTCTTTTCATTCACAGCATTAGGCTAAACCATACTCAGTATCCAAACAGTGGCCTTTGACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCTCTCTTCAGGACCTCCTCGCTCAGAGAGAAATAAAGCTGGACTGGATGTTCAAGTCCTCCCTCCTGCTGGACCTTATCAAGGTGTGTGTCTGGGGGTGGTGGGGTGACGTCCTGGGGGCAGGGATGGGGAGCAAGGGAACCAAGCAGGCTGAGGCTGCCTCTTACCCTACCCATTCCAAGGGAATAAGGTATCTGCACCATCGAGGCGTGGCTCATGGGCGGCTGAAGTCACGGAACTGCATAGTGGATGGCAGATTCGTACTCAAGATCACTGACCACGGCCACGGGAGACTGCTGGAAGCACAGAAGGTGCTACCGGAGCCTCCCAGAGCGGAGGGTAAGAGTCCCCTGTGCAGACGAGGATCCACCGGGATCCCCATTATTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATG
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TCACAGATGCAGTGACTTAAGTGGACTATGTGTATGGGGATTAATGAACTCGATCACCATTTAATACCAGGTGTTTAAAATGAAAAGTATCTGGGCGCGGTGGCTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGTGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTAAGCCGAGATCGCGGCACTGCACTTCAGCCTGGGCGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAGGAAAGGAAAGAAAAGTATCCCCTTATTGGGCATGTGGAGGGAAAAGCTAGAAAGGGCACCAGTCAGCCAGCTAAGCCACCTTTTTTTCTAGCATGCCCCGATTGTGAGGGCACTGTCCTGCAGAGCAGTCAGTCCTGTCTTCCCTAACTGAGGGAGGGTGGGAGTCTCAGACCCGACTGACACAATGACGTAACGCCAAGCAGAGCAGCCCCCGGCCAGGTTGCAGGCACACGCCATTTCTGGTGTCCTTTGAAAGTGGCACAGCTTCAGGCCGGGCACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGATGGACCACCTGAGGTCAGGAGTTCGAGACCAGACTGGCCAACATAGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGCACACACCTGTAATCCCAGCTATTCGGGAGGCTGAGACGGGAGAATCGCTTGAGCTCAGGATGCGGAGGTTGCAGTGACCCGAGATTGCACGACTGCAATCCAGCCTGGGTGACAGAGTAAGAATCTGTCTAAAAAAAAAATACATAAACAAAAGAAAAGAAAGAAAGTGGCACCGCTCCTCCCTGGCTCTCCCAGCAAAGGCTGTTAAATCAGGAGAGGATGGTGGTTCCAGGAGCTTCTCCTTCATGAGCTGCTTCCCTTAAGACCCAGGCAGTTCAGAGTTTTATGGCTGGGGCCAGGTGTGGTGGCTCAGGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCATTTGAAGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGGCTCCCATCTCTACAGAAAAAAAATTTTAAATGTTATCTAGGCATGGTGGCACAAGCCTGTAGTCCCAGCTATTCAGGAGGCTGAGGTAGGAGGATCACTTGAACCAAGGAATGAAAGGTAGCAGTGATTTATGATCATGCCGCTGCACTCCAGTCTGGGCAACAGAGTGAGACCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAAAGTTGTCTTTTCATTCACAGCATTAGGCTAAACCATACTCAGTATCCAAACAGTGGCCTTTGACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCTCTCTTCAGGACCTCCTCGCTCAGAGAGAAATAAAGCTGGACTGGATGTTCAAGTCCTCCCTCCTGCTGGACCTTATCAAGGTGTGTGTCTGGGGGTGGTGGGGTGACGTCCTGGGGGCAGGGATGGGGAGCAAGGGAACCAAGCAGGCTGAGGCTGCCTCTTACCCTACCCATTCCAAGGGAATAAGGTATCTGCACCATCGAGGCGTGGCTCAGGGGCGGCTGAAGTCACGGAACTGCATAGTGGATGGCAGATTCGTACTCAAGATCACTGACCACGGCCACGGGAGACTGCTGGAAGCACAGAAGGTGCTACCGGAGCCTCCCAGAGCGGAGGGTAAGAGTCCCCTGTGCAGACGAGGATCCACCGGGATCCCCATTATTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATG
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Task1_train_23653
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Here’s a variant in GUCY2D (guanylate cyclase 2D, retinal) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; GUCY2D-related recessive retinopathy
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GGTCCTGATCACCAATGCAAAGTTGTCTTTTCATTCACAGCATTAGGCTAAACCATACTCAGTATCCAAACAGTGGCCTTTGACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCTCTCTTCAGGACCTCCTCGCTCAGAGAGAAATAAAGCTGGACTGGATGTTCAAGTCCTCCCTCCTGCTGGACCTTATCAAGGTGTGTGTCTGGGGGTGGTGGGGTGACGTCCTGGGGGCAGGGATGGGGAGCAAGGGAACCAAGCAGGCTGAGGCTGCCTCTTACCCTACCCATTCCAAGGGAATAAGGTATCTGCACCATCGAGGCGTGGCTCATGGGCGGCTGAAGTCACGGAACTGCATAGTGGATGGCAGATTCGTACTCAAGATCACTGACCACGGCCACGGGAGACTGCTGGAAGCACAGAAGGTGCTACCGGAGCCTCCCAGAGCGGAGGGTAAGAGTCCCCTGTGCAGACGAGGATCCACCGGGATCCCCATTATTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTC
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GGTCCTGATCACCAATGCAAAGTTGTCTTTTCATTCACAGCATTAGGCTAAACCATACTCAGTATCCAAACAGTGGCCTTTGACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCTCTCTTCAGGACCTCCTCGCTCAGAGAGAAATAAAGCTGGACTGGATGTTCAAGTCCTCCCTCCTGCTGGACCTTATCAAGGTGTGTGTCTGGGGGTGGTGGGGTGACGTCCTGGGGGCAGGGATGGGGAGCAAGGGAACCAAGCAGGCTGAGGCTGCCTCTTACCCTACCCATTCCAAGGGAATAAGGTATCTGCACCATCGAGGCGTGGCTCATGGGCGGCTGAAGTCACGGAACTGCATAGTGGATGGCAGATTCGTACTCAAGATCACTGACCACGGCCACGGGAGACTGCTGGAAGCACAGAAGGTGCTACCGGAGCCTCCCAGAGCGGAGGGTAAGAGTCCCCTGTGCAGACGAGGATCCACCGGGATCCCCATTATTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTTGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTC
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Task1_train_23654
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A mutation in GUCY2D (guanylate cyclase 2D, retinal), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Leber congenital amaurosis 1
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GACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCTCTCTTCAGGACCTCCTCGCTCAGAGAGAAATAAAGCTGGACTGGATGTTCAAGTCCTCCCTCCTGCTGGACCTTATCAAGGTGTGTGTCTGGGGGTGGTGGGGTGACGTCCTGGGGGCAGGGATGGGGAGCAAGGGAACCAAGCAGGCTGAGGCTGCCTCTTACCCTACCCATTCCAAGGGAATAAGGTATCTGCACCATCGAGGCGTGGCTCATGGGCGGCTGAAGTCACGGAACTGCATAGTGGATGGCAGATTCGTACTCAAGATCACTGACCACGGCCACGGGAGACTGCTGGAAGCACAGAAGGTGCTACCGGAGCCTCCCAGAGCGGAGGGTAAGAGTCCCCTGTGCAGACGAGGATCCACCGGGATCCCCATTATTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCC
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GACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCTCTCTTCAGGACCTCCTCGCTCAGAGAGAAATAAAGCTGGACTGGATGTTCAAGTCCTCCCTCCTGCTGGACCTTATCAAGGTGTGTGTCTGGGGGTGGTGGGGTGACGTCCTGGGGGCAGGGATGGGGAGCAAGGGAACCAAGCAGGCTGAGGCTGCCTCTTACCCTACCCATTCCAAGGGAATAAGGTATCTGCACCATCGAGGCGTGGCTCATGGGCGGCTGAAGTCACGGAACTGCATAGTGGATGGCAGATTCGTACTCAAGATCACTGACCACGGCCACGGGAGACTGCTGGAAGCACAGAAGGTGCTACCGGAGCCTCCCAGAGCGGAGGGTAAGAGTCCCCTGTGCAGACGAGGATCCACCGGGATCCCCATTATTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTTGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCC
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Task1_train_23655
|
This gene mutation involves GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Cone-rod dystrophy 6
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GACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCTCTCTTCAGGACCTCCTCGCTCAGAGAGAAATAAAGCTGGACTGGATGTTCAAGTCCTCCCTCCTGCTGGACCTTATCAAGGTGTGTGTCTGGGGGTGGTGGGGTGACGTCCTGGGGGCAGGGATGGGGAGCAAGGGAACCAAGCAGGCTGAGGCTGCCTCTTACCCTACCCATTCCAAGGGAATAAGGTATCTGCACCATCGAGGCGTGGCTCATGGGCGGCTGAAGTCACGGAACTGCATAGTGGATGGCAGATTCGTACTCAAGATCACTGACCACGGCCACGGGAGACTGCTGGAAGCACAGAAGGTGCTACCGGAGCCTCCCAGAGCGGAGGGTAAGAGTCCCCTGTGCAGACGAGGATCCACCGGGATCCCCATTATTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCC
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GACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCTCTCTTCAGGACCTCCTCGCTCAGAGAGAAATAAAGCTGGACTGGATGTTCAAGTCCTCCCTCCTGCTGGACCTTATCAAGGTGTGTGTCTGGGGGTGGTGGGGTGACGTCCTGGGGGCAGGGATGGGGAGCAAGGGAACCAAGCAGGCTGAGGCTGCCTCTTACCCTACCCATTCCAAGGGAATAAGGTATCTGCACCATCGAGGCGTGGCTCATGGGCGGCTGAAGTCACGGAACTGCATAGTGGATGGCAGATTCGTACTCAAGATCACTGACCACGGCCACGGGAGACTGCTGGAAGCACAGAAGGTGCTACCGGAGCCTCCCAGAGCGGAGGGTAAGAGTCCCCTGTGCAGACGAGGATCCACCGGGATCCCCATTATTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTTGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCC
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Task1_train_23656
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Consider a variant on Chromosome 17 in gene GUCY2D (guanylate cyclase 2D, retinal). Determine its clinical classification and disease relevance.
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Pathogenic; Cone-rod dystrophy 6
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TTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAA
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TTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGAGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAA
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Task1_train_23657
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Chromosome 17 houses a mutation in gene GUCY2D (guanylate cyclase 2D, retinal). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Leber congenital amaurosis 1
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TTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAA
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TTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGAGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAA
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Task1_train_23658
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A change on Chromosome 17 affects gene GUCY2D (guanylate cyclase 2D, retinal). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Leber congenital amaurosis 1
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TTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAA
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TTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGGGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAA
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Task1_train_23659
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Gene GUCY2D (guanylate cyclase 2D, retinal), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Cone-rod dystrophy 6
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TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAA
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TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCCCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAA
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Task1_train_23660
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This variant impacts the gene GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Leber congenital amaurosis 1
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TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAA
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TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCCCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAA
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Task1_train_23661
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A mutation on Chromosome 17 affecting GUCY2D (guanylate cyclase 2D, retinal) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Retinal dystrophy
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TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAA
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TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCCCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAA
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Task1_train_23662
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Chromosome 17 houses a mutation in gene GUCY2D (guanylate cyclase 2D, retinal). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; not specified
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TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAA
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TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCCCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAA
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Task1_train_23663
|
Gene GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Leber congenital amaurosis 1
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CCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATC
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CCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAACCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATC
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Task1_train_23664
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Mutation context: Chromosome 17, Gene GUCY2D (guanylate cyclase 2D, retinal). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Cone-rod dystrophy 6
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CCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATC
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CCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAACCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATC
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Task1_train_23665
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This sequence change occurs on Chromosome 17, altering GUCY2D (guanylate cyclase 2D, retinal). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Cone-rod dystrophy 6
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GTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACT
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GTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAACACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACT
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Task1_train_23666
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A change on Chromosome 17 affects gene GUCY2D (guanylate cyclase 2D, retinal). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Cone-rod dystrophy 6
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GTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACT
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GTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAACACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACT
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Task1_train_23667
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Consider a variant on Chromosome 17 in gene GUCY2D (guanylate cyclase 2D, retinal). Determine its clinical classification and disease relevance.
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Pathogenic; Leber congenital amaurosis 1
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GTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACT
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GTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAACACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACT
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Task1_train_23668
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Here is a mutation in GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Night blindness, congenital stationary, type1i
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GCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTG
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GCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCACAGGGGCACCCTGCAGTTAGAAAAGAGCCAGCCTCACTCTTTCCTCTAAAGCAAAGCCCAGTGATGAAACTCAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACATTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTG
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Task1_train_23669
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A variant affecting Chromosome 17, within the gene GUCY2D (guanylate cyclase 2D, retinal), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Cone-rod dystrophy 6
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CAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTGCTGCTATAGGTGACTGGAAGTCTGTCTAATGCTGGTGGACTCTGCCCAGCTCTGCCTCAAAGGATTTTGGGCCTTTTACAAGAGCTGGTTGCAAAACCAGCCATGTGACCTTGGGAAAGTGTCACGCATGCTCTGCTGTGATCCCTTCAGTGGCAAAATGGGGGGTGGCCTAAGTGGTTCCCAAGGCCCCTGTGCACCTGACAGCTGGGTGGCTTGTGGCCCTCACCCCCAGGAGCCCTGAGTCCAGCAGGGGATGTGAGGGTCAGGGATTCTCCGCTTCCCAGTGTCTCTCAGGGACCCAGGAAGGAGGATCTGGGATTGATGCCCGACCCCAGAGGAAGTGGAGTTCTGTTCCACCAGAGCAGGGTTTGTCACATGGCCTGAGGGGGCA
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CAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCCCAGAGTTCGAGGTCCTCTTGTTCCTCCTAGCAACCCCCTTCCACACTATACTCTCCCTCCACACACACACACTGAACCTCTGATGTAAAGAAACCCCTGCCAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGACCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTGCTGCTATAGGTGACTGGAAGTCTGTCTAATGCTGGTGGACTCTGCCCAGCTCTGCCTCAAAGGATTTTGGGCCTTTTACAAGAGCTGGTTGCAAAACCAGCCATGTGACCTTGGGAAAGTGTCACGCATGCTCTGCTGTGATCCCTTCAGTGGCAAAATGGGGGGTGGCCTAAGTGGTTCCCAAGGCCCCTGTGCACCTGACAGCTGGGTGGCTTGTGGCCCTCACCCCCAGGAGCCCTGAGTCCAGCAGGGGATGTGAGGGTCAGGGATTCTCCGCTTCCCAGTGTCTCTCAGGGACCCAGGAAGGAGGATCTGGGATTGATGCCCGACCCCAGAGGAAGTGGAGTTCTGTTCCACCAGAGCAGGGTTTGTCACATGGCCTGAGGGGGCA
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Task1_train_23670
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This variant lies on Chromosome 17 and affects the gene GUCY2D (guanylate cyclase 2D, retinal). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Congenital blindness
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CAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTGCTGCTATAGGTGACTGGAAGTCTGTCTAATGCTGGTGGACTCTGCCCAGCTCTGCCTCAAAGGATTTTGGGCCTTTTACAAGAGCTGGTTGCAAAACCAGCCATGTGACCTTGGGAAAGTGTCACGCATGCTCTGCTGTGATCCCTTCAGTGGCAAAATGGGGGGTGGCCTAAGTGGTTCCCAAGGCCCCTGTGCACCTGACAGCTGGGTGGCTTGTGGCCCTCACCCCCAGGAGCCCTGAGTCCAGCAGGGGATGTGAGGGTCAGGGATTCTCCGCTTCCCAGTGTCTCTCAGGGACCCAGGAAGGAGGATCTGGGATTGATGCCCGACCCCAGAGGAAGTGGAGTTCTGTTCCACCAGAGCAGGGTTTGTCACATGGCCTGAGGGGGCAAGGGCTCCTGTTTAGCCTCAAGCTTCATTCCTATCTCCATCTCCCACCAGTCAGAAACTGGCTGCTTCTCCTGTGGGTATAATCAGGGAACTTGCCCAAGTGCAGAGAAAAGCTTGCTTCAATGCTTTGAGGAAAGGAAATTGTGCCACACCTTGACTGACCAGAACATCCAAAGAGCGGCATTCTCTGTTTAACTAGGAGCTGCTGAGCAAGCAGTTGGACAGAAAATCCTCTCTGCTTAGAATTTTTTCTTTTTTTTTGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGCAGTGACACAATCTCGACTCATTGCAACCTCCTCCTCTCAGGTTCAAGTGATTCTCCTACCTCAGCCTGCCGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCGGGTAATTTTTTTGTGTG
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CAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCAAGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTGCTGCTATAGGTGACTGGAAGTCTGTCTAATGCTGGTGGACTCTGCCCAGCTCTGCCTCAAAGGATTTTGGGCCTTTTACAAGAGCTGGTTGCAAAACCAGCCATGTGACCTTGGGAAAGTGTCACGCATGCTCTGCTGTGATCCCTTCAGTGGCAAAATGGGGGGTGGCCTAAGTGGTTCCCAAGGCCCCTGTGCACCTGACAGCTGGGTGGCTTGTGGCCCTCACCCCCAGGAGCCCTGAGTCCAGCAGGGGATGTGAGGGTCAGGGATTCTCCGCTTCCCAGTGTCTCTCAGGGACCCAGGAAGGAGGATCTGGGATTGATGCCCGACCCCAGAGGAAGTGGAGTTCTGTTCCACCAGAGCAGGGTTTGTCACATGGCCTGAGGGGGCAAGGGCTCCTGTTTAGCCTCAAGCTTCATTCCTATCTCCATCTCCCACCAGTCAGAAACTGGCTGCTTCTCCTGTGGGTATAATCAGGGAACTTGCCCAAGTGCAGAGAAAAGCTTGCTTCAATGCTTTGAGGAAAGGAAATTGTGCCACACCTTGACTGACCAGAACATCCAAAGAGCGGCATTCTCTGTTTAACTAGGAGCTGCTGAGCAAGCAGTTGGACAGAAAATCCTCTCTGCTTAGAATTTTTTCTTTTTTTTTGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGCAGTGACACAATCTCGACTCATTGCAACCTCCTCCTCTCAGGTTCAAGTGATTCTCCTACCTCAGCCTGCCGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCGGGTAATTTTTTTGTGTG
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Task1_train_23671
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This genomic variant is located on Chromosome 17, within the GUCY2D (guanylate cyclase 2D, retinal) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Leber congenital amaurosis 1
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TCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTGCTGCTATAGGTGACTGGAAGTCTGTCTAATGCTGGTGGACTCTGCCCAGCTCTGCCTCAAAGGATTTTGGGCCTTTTACAAGAGCTGGTTGCAAAACCAGCCATGTGACCTTGGGAAAGTGTCACGCATGCTCTGCTGTGATCCCTTCAGTGGCAAAATGGGGGGTGGCCTAAGTGGTTCCCAAGGCCCCTGTGCACCTGACAGCTGGGTGGCTTGTGGCCCTCACCCCCAGGAGCCCTGAGTCCAGCAGGGGATGTGAGGGTCAGGGATTCTCCGCTTCCCAGTGTCTCTCAGGGACCCAGGAAGGAGGATCTGGGATTGATGCCCGACCCCAGAGGAAGTGGAGTTCTGTTCCACCAGAGCAGGGTTTGTCACATGGCCTGAGGGGGCAAGGGCTCCTGTTTAGCCTCAAGCTTCATTCCTATCTCCATCTCCCACCAGTCAGAAACTGGCTGCTTCTCCTGTGGGTATAATCAGGGAACTTGCCCAAGTGCAGAGAAAAGCTTGCTTCAATGCTTTGAGGAAAGGAAATTGTGCCACACCTTGACTGACCAGAACATCCAAAGAGCGGCATTCTCTGTTTAACTAGGAGCTGCTGAGCAAGCAGTTGGACAGAAAATCCTCTCTGCTTAGAATTTTTTCTTTTTTTTTGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGCAGTGACACAATCTCGACTCATTGCAACCTCCTCCTCTCAGGTTCAAGTGATTCTCCTACCTCAGCCTGCCGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCGGGTAATTTTTTTGTGTGATTTTAGTAGA
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TCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCAGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTGCTGCTATAGGTGACTGGAAGTCTGTCTAATGCTGGTGGACTCTGCCCAGCTCTGCCTCAAAGGATTTTGGGCCTTTTACAAGAGCTGGTTGCAAAACCAGCCATGTGACCTTGGGAAAGTGTCACGCATGCTCTGCTGTGATCCCTTCAGTGGCAAAATGGGGGGTGGCCTAAGTGGTTCCCAAGGCCCCTGTGCACCTGACAGCTGGGTGGCTTGTGGCCCTCACCCCCAGGAGCCCTGAGTCCAGCAGGGGATGTGAGGGTCAGGGATTCTCCGCTTCCCAGTGTCTCTCAGGGACCCAGGAAGGAGGATCTGGGATTGATGCCCGACCCCAGAGGAAGTGGAGTTCTGTTCCACCAGAGCAGGGTTTGTCACATGGCCTGAGGGGGCAAGGGCTCCTGTTTAGCCTCAAGCTTCATTCCTATCTCCATCTCCCACCAGTCAGAAACTGGCTGCTTCTCCTGTGGGTATAATCAGGGAACTTGCCCAAGTGCAGAGAAAAGCTTGCTTCAATGCTTTGAGGAAAGGAAATTGTGCCACACCTTGACTGACCAGAACATCCAAAGAGCGGCATTCTCTGTTTAACTAGGAGCTGCTGAGCAAGCAGTTGGACAGAAAATCCTCTCTGCTTAGAATTTTTTCTTTTTTTTTGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGCAGTGACACAATCTCGACTCATTGCAACCTCCTCCTCTCAGGTTCAAGTGATTCTCCTACCTCAGCCTGCCGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCGGGTAATTTTTTTGTGTGATTTTAGTAGA
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Task1_train_23672
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Mutation context: Chromosome 17, Gene GUCY2D (guanylate cyclase 2D, retinal). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Cone-rod dystrophy 6
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TCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCGGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTGCTGCTATAGGTGACTGGAAGTCTGTCTAATGCTGGTGGACTCTGCCCAGCTCTGCCTCAAAGGATTTTGGGCCTTTTACAAGAGCTGGTTGCAAAACCAGCCATGTGACCTTGGGAAAGTGTCACGCATGCTCTGCTGTGATCCCTTCAGTGGCAAAATGGGGGGTGGCCTAAGTGGTTCCCAAGGCCCCTGTGCACCTGACAGCTGGGTGGCTTGTGGCCCTCACCCCCAGGAGCCCTGAGTCCAGCAGGGGATGTGAGGGTCAGGGATTCTCCGCTTCCCAGTGTCTCTCAGGGACCCAGGAAGGAGGATCTGGGATTGATGCCCGACCCCAGAGGAAGTGGAGTTCTGTTCCACCAGAGCAGGGTTTGTCACATGGCCTGAGGGGGCAAGGGCTCCTGTTTAGCCTCAAGCTTCATTCCTATCTCCATCTCCCACCAGTCAGAAACTGGCTGCTTCTCCTGTGGGTATAATCAGGGAACTTGCCCAAGTGCAGAGAAAAGCTTGCTTCAATGCTTTGAGGAAAGGAAATTGTGCCACACCTTGACTGACCAGAACATCCAAAGAGCGGCATTCTCTGTTTAACTAGGAGCTGCTGAGCAAGCAGTTGGACAGAAAATCCTCTCTGCTTAGAATTTTTTCTTTTTTTTTGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGCAGTGACACAATCTCGACTCATTGCAACCTCCTCCTCTCAGGTTCAAGTGATTCTCCTACCTCAGCCTGCCGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCGGGTAATTTTTTTGTGTGATTTTAGTAGA
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TCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCAGACAGGCAGGCTGGCAGGACCTCTGGCCTTCCAGGCTACCTCCTAAGGAGTAGCCTGAAGACTCGGAGTTTGGGGGCAGAATTGGAATGGGGGCTGTGGAGGCTTTTGGAGTGGGAGATAGAGTTCTGTCTGGGTGGGAGGAATATTCAATTCAATTCAAATAACACTGATTGAGAACCAAGTATGTGCTTGGCCTGCTGTGACAGAAAGACCCTTGGCCTGGGAGCCCAACGATTGGGCTGGCTCCAGTGCCCTGTCAATTACTAGCTGAGATCAACTGACCTCTGGGAACCCTCATTTCCCACGTGCCTCCTAATCGTGTCTGAAAACACAGTGCCCAGCACCCCGGGGTGCTTGATGAATAGTAGATGAATGGTGGCAGCGGGGTTGGGGTTCAGAGTGAACAGCCCCATGAGAGGGCCCATGAGGGGGGCATAAAGAGGGCATGGCAACCCAGGTCTTCAGCAGCTTTACCAGCTTCCTTCTACTGCTAGTTCAAGAACATCAACAAGGGCCGGAAGACGAACATCATTGACTCGATGCTTCGGATGCTGGAGCAGTACTCTAGTAACCTGGAGGATCTGATCCGGGAGCGCACGGAGGAGCTGGAGCTGGAAAAGCAGAAGACAGACCGGCTGCTTACACAGATGCTGCCTCCGTGGGTGCCAGTGGGAAGGGGTGGGCTGGGAGGGCAGCTGGAGCCCAGCCAGGTAGAGTGGCCCCCAGGTGACCTCACTGCCTGCCATCCCTAGGTCTGTGGCTGAGGCCTTGAAGACGGGGACACCAGTGGAGCCCGAGTACTTTGAGCAAGTGACACTGTACTTTAGTGACATTGTGGGCTTCACCACCATCTCTGCCATGAGTGAGCCCATTGAGGTTGTGGACCTGCTCAACGATCTCTACACACTCTTTGATGCCATCATTGGTTCCCACGATGTCTACAAGGTGCAGTGTGTAGGGGACAAGCCCTCCTGACCTTCAATTCAGCTTCACCAGCCTCCAGCCCAGCCCTTCCTGCGCAGCCCCTAGCCTACCTGCCCAATCAATCTTCTTTCCCAGACCTCCTGTCCCTTATTTATTCCTCCAGTCCCCAGCTCAGTCCTTCCACTAGCAACCTGGTTCTGCACTAACCCCAGGTGGGCCCGGTGACAAGAGGCAATCGCTTCGTGTACTCGGGGGGAATGCTCAAAAGAAAATTCACACAACTCCTTCTTCCCCCAGGTGGAGACAATAGGGGACGCCTATATGGTGGCCTCGGGGCTGCCCCAGCGGAATGGGCAGCGACACGCGGCAGAGATCGCCAACATGTCACTGGACATCCTCAGTGCCGTGGGCACTTTCCGCATGCGCCATATGCCTGAGGTTCCCGTGCGCATCCGCATAGGCCTGCACTCGGGTAACTCCCGGGTCTTCCCAGGCTCCAGCCCATCTCCCTCTTTAGGGCCTGGCCCCAGATTTCCTGTAGAGGAGGCAACTCATGGAGCGGGGAGTGGGGCTTACCTTGAAGAGGATGCACTTAACAAGGCTTATTTGGGGGGCTGGTGGAGATAATGGGTGCGAAGATCCCCCGAGGCCCTACCTAGGTGCAGCCCAGGGCCGGCCCTGCTAGCCCCGCCGACCCCCAGCATCTCCACAGGTCCATGCGTGGCAGGCGTGGTGGGCCTCACCATGCCGCGGTACTGCCTGTTTGGGGACACGGTCAACACCGCCTCGCGCATGGAGTCCACCAGGCTGCGTGAGTGTGACGGGGACAAGACGGGGAGGTGGGAGGGGGACACGGGAGGTGAGTCCCGAGCTCACGGCGTCCCCCACCGCCACAGCTTACCGCATCCACGTGAACTTGAGCACTGTGGGGATTCTCCGTGCTCTGGACTCGGGCTACCAGGTGGAGCTGCGAGGCCGCACGGAGCTGAAGGTGAGGCAGGGCCCCAACCCCTCCCGGAGGCCCCGCCCTGTCCTGAGGCACCGCCCATCCCGGGCCGCGGCTGCAAACCTCAGCTCACCCTTCTGACCTGGTCTCCCAGTTCCACGCAGACTCGAGATCCCCCACCCCTCACCCCAGTCCGCCTAAGTCCTTCCCTCTCCCATGTCTCCCCAGGGCAAGGGCGCCGAGGACACTTTCTGGCTAGTGGGCAGACGCGGCTTCAACAAGCCCATCCCCAAACCGCCTGACCTGCAACCGGGGTGAGGGGCCGGCCTCCGCGGCAGGGCGAGGGACGAGGGACCCCTGCCTCCTGCTCTGTGTCTGACCCCCCGCGCGCGAGGCAGCGATGACGTGGGCCCTGCCCTCCCACGCCCCATTCCCCTTCCCTGAGGCCACCGCCCCCTCCTTGCAGGTCCAGCAACCACGGCATCAGCCTGCAGGAGATCCCACCCGAGCGGCGACGGAAGCTGGAGAAGGCGCGGCCGGGCCAGTTCTCTTGAGAAGTGAGGCCCGGCCCCGGACAGGTACTGCCCCCTCAGCCCCAACCCCAGCTGCCGCGTCCCCTCTGCTGCCTGCAGAACGTCCCACCCAAGCCAGGTGTCCCGATCCCTTTCTGACTTAGAGAGCCCAGGCTGGTTCCTAAACCCCGGGGCTTCCCCTGGGAGGGAAGCAGCCATTGCAGGAATTTTGGTTCAGTAGATCTGGAGTGGTTTGGAAATCCAGGCTTAGGAAACTCCGTAATCGGGGCCTTCTGTGGCCCCTCCCCTGGCCCTATCTCATCCCCAGTGCATAAACCTGGCTTCCGCAGAAGCCTCACAGGCTGTGCACTGCACAAGAGACAACTCTAGGGGGCAGCAGTCACCAGAGAACAATGTGAAAGCAGAAGCCGTGCCCACTCCCCTCCTGCAAGAAACTGACCCGTGACCCGCTCCTTCCTAGGTGAACCCCCATGACCCCTTTCCTCGACTCCCCTCTGAGATACCCCTCTTTTCTTCAGGATTGTTCTGGAAGGTCCTTTTCCTGAAAGTTGCTGCTATAGGTGACTGGAAGTCTGTCTAATGCTGGTGGACTCTGCCCAGCTCTGCCTCAAAGGATTTTGGGCCTTTTACAAGAGCTGGTTGCAAAACCAGCCATGTGACCTTGGGAAAGTGTCACGCATGCTCTGCTGTGATCCCTTCAGTGGCAAAATGGGGGGTGGCCTAAGTGGTTCCCAAGGCCCCTGTGCACCTGACAGCTGGGTGGCTTGTGGCCCTCACCCCCAGGAGCCCTGAGTCCAGCAGGGGATGTGAGGGTCAGGGATTCTCCGCTTCCCAGTGTCTCTCAGGGACCCAGGAAGGAGGATCTGGGATTGATGCCCGACCCCAGAGGAAGTGGAGTTCTGTTCCACCAGAGCAGGGTTTGTCACATGGCCTGAGGGGGCAAGGGCTCCTGTTTAGCCTCAAGCTTCATTCCTATCTCCATCTCCCACCAGTCAGAAACTGGCTGCTTCTCCTGTGGGTATAATCAGGGAACTTGCCCAAGTGCAGAGAAAAGCTTGCTTCAATGCTTTGAGGAAAGGAAATTGTGCCACACCTTGACTGACCAGAACATCCAAAGAGCGGCATTCTCTGTTTAACTAGGAGCTGCTGAGCAAGCAGTTGGACAGAAAATCCTCTCTGCTTAGAATTTTTTCTTTTTTTTTGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGCAGTGACACAATCTCGACTCATTGCAACCTCCTCCTCTCAGGTTCAAGTGATTCTCCTACCTCAGCCTGCCGAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCGGGTAATTTTTTTGTGTGATTTTAGTAGA
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Task1_train_23673
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Here is a genetic alteration in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; not provided
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CCCCTTGAAGACCTCAGGGACTCCCCCTATATGAACATCCACAGCAGGAGCTCCTTCCTCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCT
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CCCCTTGAAGACCTCAGGGACTCCCCCTATATGAACATCCACAGCAGGAGCTCCTTCCTCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATTCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCT
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Task1_train_23674
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This variant affects gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Autosomal recessive congenital ichthyosis 2
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ACATCCACAGCAGGAGCTCCTTCCTCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGC
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ACATCCACAGCAGGAGCTCCTTCCTCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGCAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGC
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Task1_train_23675
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A mutation in ALOX12B (arachidonate 12-lipoxygenase, 12R type), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Autosomal recessive congenital ichthyosis 2
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TCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAG
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TCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGAGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAG
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Task1_train_23676
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This variant affects gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Autosomal recessive congenital ichthyosis 2
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TCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAG
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TCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGTGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAG
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Task1_train_23677
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Here is a genetic alteration in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Autosomal recessive congenital ichthyosis 2
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CAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGT
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CAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCTCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGT
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Task1_train_23678
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Given this variant in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Autosomal recessive congenital ichthyosis 2
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TGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTT
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TGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCGGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTT
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Task1_train_23679
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Gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Autosomal recessive congenital ichthyosis 2
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CAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGA
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CAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTTCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGA
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Task1_train_23680
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The variant affects gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Autosomal recessive congenital ichthyosis 2
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CCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCT
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CCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCTCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCT
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Task1_train_23681
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This sequence change occurs on Chromosome 17, altering ALOX12B (arachidonate 12-lipoxygenase, 12R type). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Autosomal recessive congenital ichthyosis 2
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ACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGC
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ACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGATCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGC
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Task1_train_23682
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A genomic change on Chromosome 17 affects ALOX12B (arachidonate 12-lipoxygenase, 12R type). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Autosomal recessive congenital ichthyosis 2
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AGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCC
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AGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATACGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCC
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Task1_train_23683
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A mutation in ALOX12B (arachidonate 12-lipoxygenase, 12R type), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Ichthyosis
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ATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTT
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ATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCTGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTT
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Task1_train_23684
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Given a variant located on Chromosome 17 and affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; not specified
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ATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTT
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ATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCTGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTT
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Task1_train_23685
|
Located on Chromosome 17, this mutation impacts ALOX12B (arachidonate 12-lipoxygenase, 12R type). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
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ATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGT
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ATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGATCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGT
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Task1_train_23686
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This variant affects gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Autosomal recessive congenital ichthyosis 2
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GTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAG
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GTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCGTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAG
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Task1_train_23687
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Mutation context: Chromosome 17, Gene ALOX12B (arachidonate 12-lipoxygenase, 12R type). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Autosomal recessive congenital ichthyosis 2
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GATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGG
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GATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGAATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGG
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Task1_train_23688
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This variant lies on Chromosome 17 and affects the gene ALOX12B (arachidonate 12-lipoxygenase, 12R type). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Autosomal recessive congenital ichthyosis 2
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CTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAG
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CTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTGTTCTCTCTACCCTACTCCCATCTAGGGGGTCCCCTCCACCCTGGGCCACTGTGCTGGGCTCATCCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTAGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAG
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Task1_train_23689
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This genomic variant is located on Chromosome 17, within the ALOX12B (arachidonate 12-lipoxygenase, 12R type) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Autosomal recessive congenital ichthyosis 2
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CCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACC
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CCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGCCAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACC
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Task1_train_23690
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Given a variant located on Chromosome 17 and affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Autosomal recessive congenital ichthyosis 2
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TCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGG
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TCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCTTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGG
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Task1_train_23691
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A mutation found in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Autosomal recessive congenital ichthyosis 2
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ACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGG
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ACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTACTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGG
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Task1_train_23692
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Given a variant located on Chromosome 17 and affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Autosomal recessive congenital ichthyosis 2
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CATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCC
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CATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATGGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCC
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Task1_train_23693
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Chromosome 17 houses a mutation in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Autosomal recessive congenital ichthyosis 2
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GAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCA
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GAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGGATCCTGGGGACAATGGCTACTAGGAGGATGCACTTAGCTTAGCAGGCTGGGCTCCTAGGTGGCAGGGCTTGTGGCCACTAGGTTGCTGGTGGGTGTGGTTTAGGGTGCTGTGGATTCCTAGTAGGGGGAGTTTAGAGTGGTCTGGGCTTCAGAGTGAGCCGGGCTTGGGGTGGTCTGGGTTTCTTGTGGCCCGCAGTCTTTTGTCTAGGTGGGCGGGTGTTTTATGTTTCAAGTTGGATGGGTCTGGAGTGCTCCAGGACCCCTACGTGGGCTGGGCTTGGGTGGACTAAGTCCCCTGGGAGGGAGACTTAAGCTGGAACAGAATCGTTGTGGGCTGAAAATGCAGCCGGCCAAGGTCCCAGCCTTTCGGTCTCCCCTCCTGGACACCTACCCAGAGGAGCACTTCACCGAGAAGGCCCCGCGGCAGAGCCGCCTGGCCCAGATCTCGGCGGACGTCCTGGAGTGGAGCCGGGGCCTGGCGCTGCCCTACTCCTACCTGAACCCCGCGGCCGCAGAGAACGGAATCGCGGTGAGAGCGCGCGGCACAGCCTGCACCTGCACCCCGCGGCGCCAGCCCTGCCGCCAGCGCCCCAGTAACTTGCCGCGCGCATTCACAGCCAGACCCAGGGAAAGGAAGGTTTTTTGTTTTTTTGTTTGTTTGGTGTTTTGGTCTCTGAGGTTTTTGTGTTTTTTGCTTGTTTGTTTTGTTTTGTTGAAAATAGTAGGGCACAGAATGGGGAGAGGAGAGACGGGAAGCGCGCTCCTAAATAGAAATGCTGTTCTCAATCAGCACCGGGTCCAGGTAGTAGTAGGGGATGGGAAGGCACTTGTTGCGCTGGCGGATGTCGTGTGAGATCTGGTTCAGGCGCTGGCGGAACGCCTCTATGCTCCTCCGCGGGGCCTCCTCCACGAAGTGAATGTCCGGGAAGTGTCCCAGGGGCCGCTGCGGGCAGAGAGCTCGACAGCTGGGACCAGGGCCGGCCAGCACCCCCTCCTCCTGCCGGTGGCCCTGGCCCCTCCACCCTTTGGTTTCAGTGGCCTCTCACTCCCTGCTCCCCTCTTGACGCCGCTAGTTATCCTCCCCCATCCCCGGCTTCTGGTCCCCTCCCTGTGCTCAGAGTCCCCCATCCCGTCTCGCACCCTGTCGTCAGGCTCTCGGCTGAGGGTCCAGAGCACCAGCAGCGTGATGCACGTGGTCTTCACATCCGGCAACGTGTCCATGAAGGTCTCCAGAGTGGTCAGCCCCTTAGTCTGAATCGGTGGATTCCGCATGGACGCTGGGAAGTTGGGCATCCAGGCGGTGAACTCCATCTGGAGGTGGGATAGAGGCGCGGGTCTGGGTGGAAGAGTACCTCAGGAGTTTCCTTCCACCAGGTGCTGACCACCCGCCCTCCAGTCGCTGAGATGGACTCCCCGCCCTTGGCGCTGAGGCTGGGCTGGGTTGGTTAGACTGGGGGTGGGGCTGGGTGTGGGGCTGGGGCTGAGAGTTGGGGCTGAGGCTCGGTTTCCGTTGGGACTGGAGTTGAAGCTGGAACAAGTTGAGGCTGGACCAGGGATTATGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGATTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCA
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Task1_train_23694
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Given this variant in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; not specified
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TGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGC
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TGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGCGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGC
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Task1_train_23695
|
This gene mutation involves ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Autosomal recessive congenital ichthyosis 2
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TGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACAT
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TGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCGCTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACAT
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Task1_train_23696
|
The gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Autosomal recessive congenital ichthyosis 2
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TTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCT
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TTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCGGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCT
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Task1_train_23697
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The following genetic variant occurs in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; not specified
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TAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAG
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TAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTTCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAG
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Task1_train_23698
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Consider a variant on Chromosome 17 in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type). Determine its clinical classification and disease relevance.
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Pathogenic; Lamellar ichthyosis
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TGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGC
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TGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGCAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGC
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Task1_train_23699
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Consider a variant on Chromosome 17 in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type). Determine its clinical classification and disease relevance.
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Pathogenic; Ichthyosis
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TGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGTAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGC
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TGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGGACTTGGCCAGAAGTCCTCCAGGGCTGCTCCTGGCCCCTGTCTAACCAGTGGCCCTCAGATCTCTCTTCCAGTTTCCCTGGGGATGCCGCTCCGGTCCCAGACCTGGGGATGTTGGGAGAGGCAGGAGGCTTTCCTGGGTTCCTTCGGAAGAGTCCTGCCCCGACTCAACCCAGCGCCCCCTCTCCACTCCCTCCCATCACCTCCTTCCAGACTCTGTGCCCACTCCAGATGGATTTCTCAGTCCCACACATCTTCCCTACCAAGCTGCTGGCTTCCCTTTCCTGTTGTCCCGTGTGAACCTCAGGTTGCTTCTCTTTCCTGTTGTCCGGTGTGTCCTGGTTGCCATGGTGATCTCAGGTTCCAAAAGTCCCACATATTCAAACCAGACCCATCATCTTCCTCCCTAACCGCTCCTCCTTTTAGCCCCCAGCTCAATGGATGACCTACATCACGTATCCAGTTGCAAAAGTCTGAAACGTGGAGTCGCCCTTGGCCCCTCCCTCCCCTCCTCCTCCCCTCACCACCAAACTCAAACCATCACCCAGTCCTGTCATTTCTAGCTCTGGAATTCTCTGTGGCATCCCCACAGCTCTTACCCTAGTCAGGTCCCCAGTCTTCCCTCCTGGACACCACAACAGCTTCCCTAACTGTCTCCTGACTGCCAGTGCAGCCTGATATTCTAGCATACAAGTCTGATCTCCTTGCAAAACCCTCCCTGGATCCCTCTGGCCCTTAACCAGGCTGTGCAGCCTGGCCGTGGCTCACGGCCTCAGCCTCAGCCCATTGGGAACCTCCCCACGTCCCACCCTAAGCTCCAGTTGCAGAGAACATGATTACAGTAAGCAGCTCCTGGAACTCCCTATGCTCTCTCTGGCTTTCTCGACTTTCCACATACTGCTCCCATGCGGAACTCTCCGTCCCCATCCTCAGTCATCTCGAGGCTAACCTCTCCATCCTGCAGATCTTAGCTAGATGTTAGCCAAGAAGTTAGATTTCAGCTAGATCTTAGCTTGCTGCTCCTGCCCTGTCTTCTCTCCACTACCCCTTCCCAAAGTGGGTTAGGCGCCTTCCCTGGGCTTCCCCACAACTTACTTTAGGGAAGTACCTGCCACCCCAGACTGTGAACTCCTTGAAGGCAGGCACCTTCACCACTGTCTTTTTCCCTTTTGCCTCCTCAATAACCAGCACAGTGTTGCACTGTGGATGCTCACTGGATATTTGTTGAGTGTGTACCCAGGTGGCGGGACCTCAGGGCGCTTTCACCCTTCTCCTGGAGCTGCCAGCTCCCTGGCCTCCTGCCCCTTCCCGTTGGAGCTCATACCCCATTTCACAGTCCACAAAGATTTGTTTCTGGGGTGGGGCTGGGACCCCTCCAGGTCTCTGCAGAGATGACCCACAGCCCCTAATCTCAGACAGGGACCCATTGCCAGCCATGTTTTCTTCCCCAACCTCTCTGAGATGCCACTGCTCCAGGGGCCAGAGAAGAGCCTGTCAAAATCCTAGGGCAGCAATTTGGTCTCCTTCAGTCTACAATAAAATATGTTCTGATCCAGCCCAGGAGGGCCCTAGCAGACCTGCCTGGGGGCTGCCCCTCAGTCCCAGCTCCCCCTGATTGCCCAGGTGTCCAGGCCCATACCTGAGCTCTCCCGCCCCAGGAGGCACTCTTTAAATATTTCCTGCACCCAAGACTGCAATTCCGGATCACCCTCCACGGCTGCGTCACTCGGGCAATAATAGGTGATGATCTCCGTCACATACCTGACCAGGGGACAGGGCCTCAGTTTGGATCCTCCTCCCCTCCCACTCCTCAGCCAGGCTTCTCCCACCTCCCCCAGGGTGCCCTGACCTCAGTTGGCCCCAGAGCTGCCCCAGGCCTGTGGGAGGGCAAGTCCTGTGGGGCAGAAGTGGAGAGGATGGCTTGGCAAGGTCAGAACACACCCAGAGCACTCCCTTATAAGGGATGGGCAAGGCCTACAGGCATCTCAGATCCCAGAAGCGATTTGGCCAGCAGAGGTGGGCTGGGGACCCAAGCAAGGAAGGGGCCTGCTGGGCTGAGGGTGTAGGTGTGATGGACACACAGACCCCAGGCCCCTTCCCCAAGGCCAAGCCCCTGGATGACACCAGACCCACACTCAGTTCTCTAGAAGCTCCCCACACCCTCTCCAACATCCCAGGTTGTCCACCCTAAGAGCCACCCACTGCTGTCCTGAGCTCACTTCTCCAGTGCATTCCACACCGCCAAGCTGTCATCGCGGTAGTAATATCCAGGCAGGTCCTGGACCCCACGCTCCACAAAGTCATTGGGGAGGTAGAGGCTGTCATAGGTGAGCTCCGACAGAGCCCGTACCATCACCCCAGCAAAGCCTTCCACGCCCAGGGACATGCCCTGTGAGGAAGGAGGCAGATCCTGGAGCCGGACAGGCATCCCTGGAACCCCTTCAGGTCCTCTAGGATCCCAGTAAGTGCCCCTGTAACCCCTGACCCAGCCCACCCCACCTCCAGGAACAATCCTGCTCTGGGCCAGCACACCAGCCCTGCCTCTGCTCCTTTCTAGACAGGAGAACCAACTTCATCCAGCTCCCTCCCTTCATGCCCCCTCATGATGACCCAAAGGCAAATGGGAAGTCCTCCTCTTCATCTAACTGAAAAGGCCAGAGGAAAACAAATGTCTCGTTGGGGTTGGGGGCAGAAGTCTTACCTTGGCAGAGAGCCCCCCCTCATTGAGGAGAACGGCCCGGCCAATGCTGTTGATCTGGACGGTGTATCGGGTATGGGGGATGAGGAGCTGTGGGGAGAGCAAGGAGGATGAAGAGAGAGGGCTGAAGTGGCCCCCAAAGGAGCTCAGCTCCCCATTTCTGTAACGTCAGATCTGCTCACTCTGGGAAGTCCCTATGCCAAGCCCTCTCTTGTGGTCCCCAGATGCCCCCCAGGCTGACTGGAGTCTCTCTGACTGCTCAGTGGGCCTGGGGGTTTTCGGAGGCCAGGTGAGGGCCATGATGCCTGGGGGAGGCCCCTTCTCCCAAGCCCATACCTTGTAGAGGGGGTGGCACATGGGCAGGTTCCTCAGCAAGGCCAGGCAGAAGGCCTCAGCAATGAGGTGTGTCTCCAGCAGGTGGGCGATGGCCTCGTGGCTGTAGAACTCCGCATAGCGTACCCACGTCTTGGCTAGCAGCCAGTCCCACTCAGAATCACTGGGCAGGAAGATGGGGCAATCTGGCCCAGGGGTCTGGCTGAGCTAGGTGTGGTGAAAGAGAAAGGGTTGGGTGAGGGCAGAGACCCACACACATAAAGGCCCCACCGCAGGAAGGAGGCAGAAGGGAGTATGAGAAGGTGAAAACACTCCTAAGCTCCGGTCCCACTGGTCCCCTGAGCACCCCTGGGCCTTTCCTCCCTCCCCACATTTGATCTTGCTGTTCCTTCTGCTCAACTGCAGTACCTTCCTCTTGCCCCTGTCTCTACCTGGCAGCTCCCACTTATTCTTCAAGAACCATCTCACAAGCTGCCTTCTCTGGCAAGACTTCCTTACTTCAGCCACACCTCCACCACATTCAGGTGCGCAGGTTGTGCACTGCACAAGGATTCCTAGCCCCTCAGGGGGCAGGCAGATCACTGAAATCAGCCTACGCTATTCCATTAAGGAGCCAGGAGCATCAGGCTCTGGGGCTCTGGCCCATCCCCCCAGAGGGAGCCTCTTTCTAACTTGCACATGACGCTTGGGGGGACCTCTGGGAAGGAAACACCCAGTTCCTTCCTCTGCCAGACCAGATTCCCAAGGC
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Subsets and Splits
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