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_10100
|
This mutation is located in gene VARS2 (valyl-tRNA synthetase 2, mitochondrial) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Combined oxidative phosphorylation defect type 20
|
CTGACAAGGATCTCTCTGGGCACAGGAAAGGTGGAGAGATCTGTGAGCAGCTGCGAGCTCTGGGTGCCTCCCTGGACTGGGATCGAGAGTGTTTTACCATGGATGTTGTGAGTGTTCTGTGCCTTGGTCCCTGTGAGTGATGGGCGATGTTTAGGGATCTGTGTGGGGCAGGGAGGAAGCAATGCCTGGGTCCCTGAGCAGGGTGATGGGCTGAGAAGTGGCTCTTAGAGGTGGACACTCAGGTCATTCCAGGGCTCCTCAGTGGCTGTGACTGAAGCTTTTGTGCGGCTCTACAAGGCGGGGTTGCTGTACCGGAACCATCAGCTTGTCAACTGGTCATGTGCTTTAAGATCAGCCATCTCGGACATTGAGGTGAGGCGGAGAGAGGGAAGCAGGTTTGTGAGAGCTCTGAGGCAGAGTGGTCAATGATTAAGAGCTCAGACTCTGGAGCCAGGGTGCCTGGATTCAAATCTGATGCCTGCCTGTTACAGCTGTGTGGCTTTTGGCAGGCCGTTTAGTCTCTTTAAGCCTCAGCTTCCTCAGTCTGTAAATTAGAGATGATGGAATGCTTGCATCGTGGGGGTGTTGTAAAAATTAAATGAGAATTCACATAGGTGCTTGGCAAGATACCTGGCCATGGCTTAAGTGCTCAGTGAATATTTATTAGAAGTGTGACTGCACGAGCATTGGGTGAGGGCAGAGGGAGGTAGCTCCCGAATCCTCCAAATGGCTTTTAGATGGATTGCAGGGAGGCTGGGCAGATGGATGAGTGGCAGAGTGAAGCCTGGGCATGAGCCTTGCAGAAAGGCTGCCCTCTGACCCAGCTTTCTCGGTGCCTCCAGGTGGAGAACCGGCCCCTGCCTGGCCACACACAGCTTCGACTGCCTGGCTGCCCCACCCCCGTGTCTTTTGGCCTCCTATTTTCTGTTGCCTTCCCCGTGGATGGAGAGCCTGGTGAGCATAGTACTCTGCAGGGTCACCCGTTTACCTCCATTTTTCCTGTTTTCTGAAGCCCATGTTGGGCTGCTAGGAACCCATCAGTCCATCTCTCACATGTACCTTGGTAGTGTTCACCTCAGCGTGGGCACTTACCCAGGGTCTTCTGGGGGATGTACAAAAAGTGCATGTGGTCACTGCCCTTTGAGAGTGTGGTGTGATTCTTCAGGAGTGCGCTACCCAGGAAAGAGATCAGTTCTAAGGTATGTTTTGTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCACGATCTCGGCTCCTGCAACCTCTGCTTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGTGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGTTGGTCTCGAACTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGCACCTGGCCTCTAAGGTGTGGTTTTTACGGTAAATGTTCTGAAGAGCTCAGAGAAAGGGAAGACAGATGAGCTGGAATTGTCAGTGGAAGCTTCTTGTAGGAGCTGGTGCTCCCCCTGAGGAATGTACAGCATTTGTGATTAGGACACTGAGAATCCCCAGTGTCCTCTGGGCACCCAGCAAGAATTCTATTATAGTTGCTTTAATTAATGCTGCCCCCATTTCTTCCATGCAAATTATCAGGGAATTCTTTAGCACCAGAGACCCTCTCAGACCTCTGGTCATCAGCTTATGGGAAACCCTGGGTTCCTATAAACACTGCTCCTACTTTTTTCTAGTCACTCCTGGGGGCCTCTTCCACCTTGACTACTCCCTGCCCCTTCCCCTTTCCAGTTCTACTGCCTTTAGCTATGTTGGCAGTGAGAGGTGAGGATGATGACCAGCTGTAAGTGTTTAAATGTTTATCTTCAGATGCAGAGGTTGTGGTAGGAACCACAAGGCCAGAGACGCTGCCTGGAGATGTGGCTGTGGCCGTTCATCCAGACGACTCGCGATACACAGTAATACCCAGTGCGCTCCTGCACTCTGGCCCGCCCCGCCAATGGCCTTCTCTTCTCTTGGGTTTTAAATGGTGGCTCTTTCTCTCTTGCTTCTACTTCCTTTTCCTGAGACTTCTCTCAGTGGTTCTGATTGGACTCCCTCCTCCTCTTATAGTTTTTCTGTAGCTCAGGGGTTGACAAACTGGCCCATGGTCCTAATCCAGCTTGCGGCCTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCAAGGCTGGAGGGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGCGTGGCACCATGCCCGGCACGTGCCACCACACCCAGCTAATTTTTTGTATTTTTACAAAAATTAGTAATTAATTTTTTTTAAGTAATGTAATTTTTAAGTAATGTTATTTAGTAGAGACGGAGTGTCACTGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCGCGCCTGGCTGCTTGCAGCCTTTATATTATCTATGGCTGCTATTATATACCCTCTCCAGCTCTGCTGCAGTGGCATAATAGAGTAATTGTGCTGAGAATGAATTTGTCTCTAGGCCCAAAAGCCTAAAATATCTACATTCTGGCCCCTTAAGAGTTTGCTGACCTTGCTCTAGCTTGCTACCTTCCACTTTCTACCTTCTTATTCCTGGGGTTCTCACGCCCCAGCCCAGACCCTTCCAACCCTCACAGGTGCCTGTCCTTGATCCCTCTCCCTTCCCTTCAGCATCTACACGGGCGACAGCTTCGTCACCCCTTGATGGGGCAGCCTCTTCCCCTCATCACAGACTATGCTGTTCAGCCACATGTGGGCACGGGTGAGTGGAAGTCAGGGGAGGGAGAGAAAGTTGGGGGTCCTGGAGGAGAGGGGAGGGAACCAGGAGGAAGAGGAAGGTGGGAGTGGGAGATCCTCATATAGGGTGGTCTGAGTGGGGAATGGGAGGGAGGCACAGACAGAGAAAGTCGCAGGGGCTGGGGCGGTGCAGGTGATGATGATACATCTGGAAAAGCAAAAGCCAAGGTCAGGTTCAGTACTCACCATGGCTGTGCTCCCCAAGGGGCAGTGAAGGTGACTCCAGCTCACAGTCCTGCCGATGCTGAGATGGGGGCCCGACATGGCTTGAGCCCCTTGAATGTCATTGCGGAGGATGGGACCATGACCTCCCTCTGCGGGGACTGGCTGCAGGTGGTACCACCCTATGTTACCCCATCCTTTGGGGGCTCTCTGTCCCCCTAATCCTCCTCCTAGTTTCTTATTTCTCTAGAGGCCTTCAGTCTTTACTCTTGCCGCTTTTTCTCCAGGGTCTTCACCGGTTTGTGGCCCGGGAAAAGATAATGTCTGTGCTGAGTGAATGGGGCCTGTTCCGGGGCCTCCAGAACCACCCCATGGTACTGCCCATCTGCAGGTAACCTCATTTTAACTCCTTTACTAAGGGCTACCCCAAAAGGGAATGTATGGAGCTTAAGGGTGACAATAGGATGGGCTCTGCACCCCTCCGTTAGAATACGAGCTCCGTGTCGGTTTTATTCGCTATTGTATCCTCAGTACCAAGGGCCTGGCATGGCATGGGGTCTTGTGCCCCTGGGAGAAGTCACAGGGCCGGAAGAGCAGTGGACTCACCCTGTCTCTCTTTCAGCCGTTCTGGGGATGTGATAGAATACCTGCTGAAGAACCAGTGGTTTGTCCGCTGCCAGGAAATGGGGGCCCGAGCTGCCAAGGTGAGGCTGCAGTGTAGGAAGGACTGGGGCCAGGGGTTGGGGGAGCTCCCTGAGAATTGGAATGAAGAAATGGGAAGCAGGAGACCTCCTGCCCTGAAGACCTCTCCAGCTGTGGTAACTGAGAGGATGTGTGGGATGGAGGCTGGGCGGCCCAGCAAGGGCTGGCTCATATCCTTACTCAAGCCCAGAATCTTGGCAA
|
CTGACAAGGATCTCTCTGGGCACAGGAAAGGTGGAGAGATCTGTGAGCAGCTGCGAGCTCTGGGTGCCTCCCTGGACTGGGATCGAGAGTGTTTTACCATGGATGTTGTGAGTGTTCTGTGCCTTGGTCCCTGTGAGTGATGGGCGATGTTTAGGGATCTGTGTGGGGCAGGGAGGAAGCAATGCCTGGGTCCCTGAGCAGGGTGATGGGCTGAGAAGTGGCTCTTAGAGGTGGACACTCAGGTCATTCCAGGGCTCCTCAGTGGCTGTGACTGAAGCTTTTGTGCGGCTCTACAAGGCGGGGTTGCTGTACCGGAACCATCAGCTTGTCAACTGGTCATGTGCTTTAAGATCAGCCATCTCGGACATTGAGGTGAGGCGGAGAGAGGGAAGCAGGTTTGTGAGAGCTCTGAGGCAGAGTGGTCAATGATTAAGAGCTCAGACTCTGGAGCCAGGGTGCCTGGATTCAAATCTGATGCCTGCCTGTTACAGCTGTGTGGCTTTTGGCAGGCCGTTTAGTCTCTTTAAGCCTCAGCTTCCTCAGTCTGTAAATTAGAGATGATGGAATGCTTGCATCGTGGGGGTGTTGTAAAAATTAAATGAGAATTCACATAGGTGCTTGGCAAGATACCTGGCCATGGCTTAAGTGCTCAGTGAATATTTATTAGAAGTGTGACTGCACGAGCATTGGGTGAGGGCAGAGGGAGGTAGCTCCCGAATCCTCCAAATGGCTTTTAGATGGATTGCAGGGAGGCTGGGCAGATGGATGAGTGGCAGAGTGAAGCCTGGGCATGAGCCTTGCAGAAAGGCTGCCCTCTGACCCAGCTTTCTCGGTGCCTCCAGGTGGAGAACCGGCCCCTGCCTGGCCACACACAGCTTCGACTGCCTGGCTGCCCCACCCCCGTGTCTTTTGGCCTCCTATTTTCTGTTGCCTTCCCCGTGGATGGAGAGCCTGGTGAGCATAGTACTCTGCAGGGTCACCCGTTTACCTCCATTTTTCCTGTTTTCTGAAGCCCATGTTGGGCTGCTAGGAACCCATCAGTCCATCTCTCACATGTACCTTGGTAGTGTTCACCTCAGCGTGGGCACTTACCCAGGGTCTTCTGGGGGATGTACAAAAAGTGCATGTGGTCACTGCCCTTTGAGAGTGTGGTGTGATTCTTCAGGAGTGCGCTACCCAGGAAAGAGATCAGTTCTAAGGTATGTTTTGTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCACGATCTCGGCTCCTGCAACCTCTGCTTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGTGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGTTGGTCTCGAACTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGCACCTGGCCTCTAAGGTGTGGTTTTTACGGTAAATGTTCTGAAGAGCTCAGAGAAAGGGAAGACAGATGAGCTGGAATTGTCAGTGGAAGCTTCTTGTAGGAGCTGGTGCTCCCCCTGAGGAATGTACAGCATTTGTGATTAGGACACTGAGAATCCCCAGTGTCCTCTGGGCACCCAGCAAGAATTCTATTATAGTTGCTTTAATTAATGCTGCCCCCATTTCTTCCATGCAAATTATCAGGGAATTCTTTAGCACCAGAGACCCTCTCAGACCTCTGGTCATCAGCTTATGGGAAACCCTGGGTTCCTATAAACACTGCTCCTACTTTTTTCTAGTCACTCCTGGGGGCCTCTTCCACCTTGACTACTCCCTGCCCCTTCCCCTTTCCAGTTCTACTGCCTTTAGCTATGTTGGCAGTGAGAGGTGAGGATGATGACCAGCTGTAAGTGTTTAAATGTTTATCTTCAGATGCAGAGGTTGTGGTAGGAACCACAAGGCCAGAGACGCTGCCTGGAGATGTGGCTGTGGCCGTTCATCCAGACAACTCGCGATACACAGTAATACCCAGTGCGCTCCTGCACTCTGGCCCGCCCCGCCAATGGCCTTCTCTTCTCTTGGGTTTTAAATGGTGGCTCTTTCTCTCTTGCTTCTACTTCCTTTTCCTGAGACTTCTCTCAGTGGTTCTGATTGGACTCCCTCCTCCTCTTATAGTTTTTCTGTAGCTCAGGGGTTGACAAACTGGCCCATGGTCCTAATCCAGCTTGCGGCCTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCAAGGCTGGAGGGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGCGTGGCACCATGCCCGGCACGTGCCACCACACCCAGCTAATTTTTTGTATTTTTACAAAAATTAGTAATTAATTTTTTTTAAGTAATGTAATTTTTAAGTAATGTTATTTAGTAGAGACGGAGTGTCACTGTGTTAGCCAGGATAGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCGCGCCTGGCTGCTTGCAGCCTTTATATTATCTATGGCTGCTATTATATACCCTCTCCAGCTCTGCTGCAGTGGCATAATAGAGTAATTGTGCTGAGAATGAATTTGTCTCTAGGCCCAAAAGCCTAAAATATCTACATTCTGGCCCCTTAAGAGTTTGCTGACCTTGCTCTAGCTTGCTACCTTCCACTTTCTACCTTCTTATTCCTGGGGTTCTCACGCCCCAGCCCAGACCCTTCCAACCCTCACAGGTGCCTGTCCTTGATCCCTCTCCCTTCCCTTCAGCATCTACACGGGCGACAGCTTCGTCACCCCTTGATGGGGCAGCCTCTTCCCCTCATCACAGACTATGCTGTTCAGCCACATGTGGGCACGGGTGAGTGGAAGTCAGGGGAGGGAGAGAAAGTTGGGGGTCCTGGAGGAGAGGGGAGGGAACCAGGAGGAAGAGGAAGGTGGGAGTGGGAGATCCTCATATAGGGTGGTCTGAGTGGGGAATGGGAGGGAGGCACAGACAGAGAAAGTCGCAGGGGCTGGGGCGGTGCAGGTGATGATGATACATCTGGAAAAGCAAAAGCCAAGGTCAGGTTCAGTACTCACCATGGCTGTGCTCCCCAAGGGGCAGTGAAGGTGACTCCAGCTCACAGTCCTGCCGATGCTGAGATGGGGGCCCGACATGGCTTGAGCCCCTTGAATGTCATTGCGGAGGATGGGACCATGACCTCCCTCTGCGGGGACTGGCTGCAGGTGGTACCACCCTATGTTACCCCATCCTTTGGGGGCTCTCTGTCCCCCTAATCCTCCTCCTAGTTTCTTATTTCTCTAGAGGCCTTCAGTCTTTACTCTTGCCGCTTTTTCTCCAGGGTCTTCACCGGTTTGTGGCCCGGGAAAAGATAATGTCTGTGCTGAGTGAATGGGGCCTGTTCCGGGGCCTCCAGAACCACCCCATGGTACTGCCCATCTGCAGGTAACCTCATTTTAACTCCTTTACTAAGGGCTACCCCAAAAGGGAATGTATGGAGCTTAAGGGTGACAATAGGATGGGCTCTGCACCCCTCCGTTAGAATACGAGCTCCGTGTCGGTTTTATTCGCTATTGTATCCTCAGTACCAAGGGCCTGGCATGGCATGGGGTCTTGTGCCCCTGGGAGAAGTCACAGGGCCGGAAGAGCAGTGGACTCACCCTGTCTCTCTTTCAGCCGTTCTGGGGATGTGATAGAATACCTGCTGAAGAACCAGTGGTTTGTCCGCTGCCAGGAAATGGGGGCCCGAGCTGCCAAGGTGAGGCTGCAGTGTAGGAAGGACTGGGGCCAGGGGTTGGGGGAGCTCCCTGAGAATTGGAATGAAGAAATGGGAAGCAGGAGACCTCCTGCCCTGAAGACCTCTCCAGCTGTGGTAACTGAGAGGATGTGTGGGATGGAGGCTGGGCGGCCCAGCAAGGGCTGGCTCATATCCTTACTCAAGCCCAGAATCTTGGCAA
|
Task1_train_10101
|
This variant affects the gene LOC126859646, VARS2 (MED14-independent group 3 enhancer GRCh37_chr6:30889690-30890889| valyl-tRNA synthetase 2, mitochondrial) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Combined oxidative phosphorylation defect type 20
|
GGAGTGGGAGATCCTCATATAGGGTGGTCTGAGTGGGGAATGGGAGGGAGGCACAGACAGAGAAAGTCGCAGGGGCTGGGGCGGTGCAGGTGATGATGATACATCTGGAAAAGCAAAAGCCAAGGTCAGGTTCAGTACTCACCATGGCTGTGCTCCCCAAGGGGCAGTGAAGGTGACTCCAGCTCACAGTCCTGCCGATGCTGAGATGGGGGCCCGACATGGCTTGAGCCCCTTGAATGTCATTGCGGAGGATGGGACCATGACCTCCCTCTGCGGGGACTGGCTGCAGGTGGTACCACCCTATGTTACCCCATCCTTTGGGGGCTCTCTGTCCCCCTAATCCTCCTCCTAGTTTCTTATTTCTCTAGAGGCCTTCAGTCTTTACTCTTGCCGCTTTTTCTCCAGGGTCTTCACCGGTTTGTGGCCCGGGAAAAGATAATGTCTGTGCTGAGTGAATGGGGCCTGTTCCGGGGCCTCCAGAACCACCCCATGGTACTGCCCATCTGCAGGTAACCTCATTTTAACTCCTTTACTAAGGGCTACCCCAAAAGGGAATGTATGGAGCTTAAGGGTGACAATAGGATGGGCTCTGCACCCCTCCGTTAGAATACGAGCTCCGTGTCGGTTTTATTCGCTATTGTATCCTCAGTACCAAGGGCCTGGCATGGCATGGGGTCTTGTGCCCCTGGGAGAAGTCACAGGGCCGGAAGAGCAGTGGACTCACCCTGTCTCTCTTTCAGCCGTTCTGGGGATGTGATAGAATACCTGCTGAAGAACCAGTGGTTTGTCCGCTGCCAGGAAATGGGGGCCCGAGCTGCCAAGGTGAGGCTGCAGTGTAGGAAGGACTGGGGCCAGGGGTTGGGGGAGCTCCCTGAGAATTGGAATGAAGAAATGGGAAGCAGGAGACCTCCTGCCCTGAAGACCTCTCCAGCTGTGGTAACTGAGAGGATGTGTGGGATGGAGGCTGGGCGGCCCAGCAAGGGCTGGCTCATATCCTTACTCAAGCCCAGAATCTTGGCAAGAGGCTTGGGAGGTCCTTTCTGAGTTTTAAAATGACCTCAGAGGCCACTCGTCCTATCTGTGGAGGTGCGGCCGTGCAGGAAGGGCAACATTGTCTAAAGTCCCCTTTCTCTCCAGGCTGTGGAGTCGGGGGCCCTGGAGCTCAGTCCCTCCTTCCACCAGAAGAACTGGCAGCACTGGTTTTCCCATATTGGGTAAGGGTAGGGTAAGGGGAGCTCTTGTGGAGATGGGGAGGGGGGACTGACTGGTTATTCTAAGACTTCACGAATGTCCTCCCGGCAGGGACTGGTGTGTCTCCCGGCAGCTGTGGTGGGGCCATCAGATTCCAGCCTACCTGGTTGTAGAGGACCATGCGCAGGTGGGTAGGAAGAAGCACCCGGAGGGCCGAGTGTGGCACAGAGCACCTAGCCCAGGAGTCAGAGCTCCGCAGGGCCAAGTCCCGCTCCTGCCTGGTCATGTGCTTCATGCTCATAGTCATGTAACCTTCTGCGCGATCAAGGCTCCCTGAAGTGGCATTTCTTTATCTCACCCCTGGGGGAACCTGGCCACTCTAAGACCACATGAGGACGTGAAAACCAAGTGACATTTACACCTGTCAGCTGTTCTTCCTCACTCTCCCCAACCCCTTCCTACTTTTGCAGGGAGAAGAGGACTGTTGGGTGGTTGGGCGGTCAGAGGCTGAGGCCAGAGAGGTAGCAGCGGAACTGACAGGGAGGCCAGGGGCAGAGCTGACCCTGGAGAGGGGTGAGTGCCTGAGCTGGGGAGGGATGTACAGGGGAGCGGGGGCCTGGGCATCTGGGCCTTTGAGGGGAACAGATCCCAAGATACAGAAGGTAGGGTCAGGAAAGTTGGGAATGGAGCCAAAGGGGACAGCCCTGGTCTCTGGGGGTGGGGGTTGGCCTAGAATGGTGGCAGCAGTGGTCTGAGGTCCTAGAAGCCAAGGTTCCAACTGTCCCCATTCTTTTTCTGTTTCCCAGATCCTGATGTCCTAGACACATGGTTTTCTTCTGCCCTGTTCCCCTTTTCTGCCCTGGGCTGGCCCCAAGAGGTGAGGTGGGTTGAGAGGGCGAAAGTGAAGGGGAAACGATAAGGAAGGGATGGCTGGGCCCCCACAGAGGCTTGAGGGGGGCCTGGGGCCTGGGCCTCTTACTGCTCCTCTTCCCCCTAGACCCCAGACCTTGCTCGTTTCTACCCCCTGTCACTTTTGGAAACGGGCAGCGACCTTCTGCTGTTCTGGGTGGGCCGCATGGTCATGTTGGGGACCCAGCTCACAGGGCAGCTGCCCTTCAGCAAGGTAAGAGCCCTTCAGTGCCCTGCCGCTTTCTGTGACTCCAGTGTTCCCCAAACCTTGTCCTCCCTTCTAACCCCTAATGTGGTCCTTTCCACGTTGCTGATTCCTTTTTCCTAATTCACTTCCTACCCTACCCCCAAAAGTATGGAGGCCAGAGATCCCAAGGCACCTCCAAGGAAACCCCCCTCTGTTGACCCCTCCCTGCCCCCAGGTGCTTCTTCATCCCATGGTTCGGGACAGGCAGGGCCGGAAGATGAGCAAGTCCCTGGGGAATGTGCTGGACCCAAGAGACATCATCAGTGGGGTGGAGATGCAGGTGAGGACGAAGCACCCACTAGAGGGACAAGGTTTGCAGGGTTTGCAGGAGAGAGGAAGGCAGGCTGAGGGAGGAGTGAGGCCAGCAGGTGTGACCCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCTCTGGCTTCCTCTGCAACCCAGGTCCTGGCCCTGCAGCCACAAAGGCATCTGCCACCCTTCTTCTTCCTCTGGTTGCAGAAAAAGGACTTTCCTCACGGGATCCCTGAGTGTGGGACAGATGCCCTGAGATTCACACTCTGCTCCCATGGAGTTCAGGGTAAGCCTGGGCGAGGGGTGTCGGGGTGAGCAGAGGGCAGCGGGCACCTGTGCAGGGGCAGGGCAGGGGCAGGACTTCTGGTGCTGCTGCCACCTACATGCAGACTACCTCGATTCTTCCCTTCCAGCGGGCGACTTGCACCTGTCAGTCTCTGAGGTCCAGAGCTGCCGACATTTCTGCAACAAGATCTGGAATGCTCTTCGCTTTATCCTCAATGCTTTAGGGGAGAAATTTGTGCCACAGCCTGCTGAGGAGGTAAGAGAAAACAGAGGTGCTTGGGAGTAGGGTAGTCAGGTGTCAGAGGGCCAAGGTGGCATCTGGAAGGAAAGGAGGCAGGGGAGGGGGAGTCAGGCCATCCTGCCCCCTCTGCCTGCAGCTGTCTCCCTCCTCCCCGATGGATGCCTGGATCCTGAGCCGCCTTGCCCTGGCTGCCCAGGAGTGTGAGCGGGGCTTCCTCACCCGAGAGCTCTCGCTCGTCACTCATGCCCTGCACCACTTCTGGCTTCACAACCTCTGTGACGTCTACCTGGTGAGTGAGGCTGGGGGAGGCTTGGTATTCCCATGCCTGCTTCTAATTCCTCTGGAAATTTCCAAGGCAGAGAGCTCTGGAGTTAATAAGTTCCCAATTGTCCCCTCAGTTAGGAGAGGAGAGGAGACGAGGGAGTCTCAGTTCCCCTCTTCCTGGGACTGGTTTTGGCAGTGCAGCCCAGGCACTGTTGCCTGCCTGTCACCTGGGGAGAGGAGGAGGAGGGAGACTTCTAGAAATGTCTGACAAGTCGGTGTCAGAAGGCAGAGGGGAATTTTTTCAGTCCCTGTAGTTGCTGAGTTTGGCCCATGGGCAGGCTGCGTGCTGAGAGAGGCCTGGGAGGGACTAGCAGCGGTCTTTAGACCAGGGGTTCTCACGCTGTCCTACGTCCAAAGCACCTGGAGGGCTTGTTGACGGTGGATCCCCCCCGCTCCACTGCCACCCCAGAGTGGCTCCTTTAGCAGGTTGGGGTGGGGGTGGGTGGTGTAATGAATATTCATTTCTTGTCCCAAGTGGTGCTG
|
GGAGTGGGAGATCCTCATATAGGGTGGTCTGAGTGGGGAATGGGAGGGAGGCACAGACAGAGAAAGTCGCAGGGGCTGGGGCGGTGCAGGTGATGATGATACATCTGGAAAAGCAAAAGCCAAGGTCAGGTTCAGTACTCACCATGGCTGTGCTCCCCAAGGGGCAGTGAAGGTGACTCCAGCTCACAGTCCTGCCGATGCTGAGATGGGGGCCCGACATGGCTTGAGCCCCTTGAATGTCATTGCGGAGGATGGGACCATGACCTCCCTCTGCGGGGACTGGCTGCAGGTGGTACCACCCTATGTTACCCCATCCTTTGGGGGCTCTCTGTCCCCCTAATCCTCCTCCTAGTTTCTTATTTCTCTAGAGGCCTTCAGTCTTTACTCTTGCCGCTTTTTCTCCAGGGTCTTCACCGGTTTGTGGCCCGGGAAAAGATAATGTCTGTGCTGAGTGAATGGGGCCTGTTCCGGGGCCTCCAGAACCACCCCATGGTACTGCCCATCTGCAGGTAACCTCATTTTAACTCCTTTACTAAGGGCTACCCCAAAAGGGAATGTATGGAGCTTAAGGGTGACAATAGGATGGGCTCTGCACCCCTCCGTTAGAATACGAGCTCCGTGTCGGTTTTATTCGCTATTGTATCCTCAGTACCAAGGGCCTGGCATGGCATGGGGTCTTGTGCCCCTGGGAGAAGTCACAGGGCCGGAAGAGCAGTGGACTCACCCTGTCTCTCTTTCAGCCGTTCTGGGGATGTGATAGAATACCTGCTGAAGAACCAGTGGTTTGTCCGCTGCCAGGAAATGGGGGCCCGAGCTGCCAAGGTGAGGCTGCAGTGTAGGAAGGACTGGGGCCAGGGGTTGGGGGAGCTCCCTGAGAATTGGAATGAAGAAATGGGAAGCAGGAGACCTCCTGCCCTGAAGACCTCTCCAGCTGTGGTAACTGAGAGGATGTGTGGGATGGAGGCTGGGCGGCCCAGCAAGGGCTGGCTCATATCCTTACTCAAGCCCAGAATCTTGGCAAGAGGCTTGGGAGGTCCTTTCTGAGTTTTAAAATGACCTCAGAGGCCACTCGTCCTATCTGTGGAGGTGCGGCCGTGCAGGAAGGGCAACATTGTCTAAAGTCCCCTTTCTCTCCAGGCTGTGGAGTCGGGGGCCCTGGAGCTCAGTCCCTCCTTCCACCAGAAGAACTGGCAGCACTGGTTTTCCCATATTGGGTAAGGGTAGGGTAAGGGGAGCTCTTGTGGAGATGGGGAGGGGGGACTGACTGGTTATTCTAAGACTTCACGAATGTCCTCCCGGCAGGGACTGGTGTGTCTCCCGGCAGCTGTGGTGGGGCCATCAGATTCCAGCCTACCTGGTTGTAGAGGACCATGCGCAGGTGGGTAGGAAGAAGCACCCGGAGGGCCGAGTGTGGCACAGAGCACCTAGCCCAGGAGTCAGAGCTCCGCAGGGCCAAGTCCCGCTCCTGCCTGGTCATGTGCTTCATGCTCATAGTCATGTAACCTTCTGCGCGATCAAGGCTCCCTGAAGTGGCATTTCTTTATCTCACCCCTGGGGGAACCTGGCCACTCTAAGACCACATGAGGACGTGAAAACCAAGTGACATTTACACCTGTCAGCTGTTCTTCCTCACTCTCCCCAACCCCTTCCTACTTTTGCAGGGAGAAGAGGACTGTTGGGTGGTTGGGCGGTCAGAGGCTGAGGCCAGAGAGGTAGCAGCGGAACTGACAGGGAGGCCAGGGGCAGAGCTGACCCTGGAGAGGGGTGAGTGCCTGAGCTGGGGAGGGATGTACAGGGGAGCGGGGGCCTGGGCATCTGGGCCTTTGAGGGGAACAGATCCCAAGATACAGAAGGTAGGGTCAGGAAAGTTGGGAATGGAGCCAAAGGGGACAGCCCTGGTCTCTGGGGGTGGGGGTTGGCCTAGAATGGTGGCAGCAGTGGTCTGAGGTCCTAGAAGCCAAGGTTCCAACTGTCCCCATTCTTTTTCTGTTTCCCAGATCCTGATGTCCTAGACACATGGTTTTCTTCTGCCCTGTTCCCCTTTTCTGACCTGGGCTGGCCCCAAGAGGTGAGGTGGGTTGAGAGGGCGAAAGTGAAGGGGAAACGATAAGGAAGGGATGGCTGGGCCCCCACAGAGGCTTGAGGGGGGCCTGGGGCCTGGGCCTCTTACTGCTCCTCTTCCCCCTAGACCCCAGACCTTGCTCGTTTCTACCCCCTGTCACTTTTGGAAACGGGCAGCGACCTTCTGCTGTTCTGGGTGGGCCGCATGGTCATGTTGGGGACCCAGCTCACAGGGCAGCTGCCCTTCAGCAAGGTAAGAGCCCTTCAGTGCCCTGCCGCTTTCTGTGACTCCAGTGTTCCCCAAACCTTGTCCTCCCTTCTAACCCCTAATGTGGTCCTTTCCACGTTGCTGATTCCTTTTTCCTAATTCACTTCCTACCCTACCCCCAAAAGTATGGAGGCCAGAGATCCCAAGGCACCTCCAAGGAAACCCCCCTCTGTTGACCCCTCCCTGCCCCCAGGTGCTTCTTCATCCCATGGTTCGGGACAGGCAGGGCCGGAAGATGAGCAAGTCCCTGGGGAATGTGCTGGACCCAAGAGACATCATCAGTGGGGTGGAGATGCAGGTGAGGACGAAGCACCCACTAGAGGGACAAGGTTTGCAGGGTTTGCAGGAGAGAGGAAGGCAGGCTGAGGGAGGAGTGAGGCCAGCAGGTGTGACCCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCTCTGGCTTCCTCTGCAACCCAGGTCCTGGCCCTGCAGCCACAAAGGCATCTGCCACCCTTCTTCTTCCTCTGGTTGCAGAAAAAGGACTTTCCTCACGGGATCCCTGAGTGTGGGACAGATGCCCTGAGATTCACACTCTGCTCCCATGGAGTTCAGGGTAAGCCTGGGCGAGGGGTGTCGGGGTGAGCAGAGGGCAGCGGGCACCTGTGCAGGGGCAGGGCAGGGGCAGGACTTCTGGTGCTGCTGCCACCTACATGCAGACTACCTCGATTCTTCCCTTCCAGCGGGCGACTTGCACCTGTCAGTCTCTGAGGTCCAGAGCTGCCGACATTTCTGCAACAAGATCTGGAATGCTCTTCGCTTTATCCTCAATGCTTTAGGGGAGAAATTTGTGCCACAGCCTGCTGAGGAGGTAAGAGAAAACAGAGGTGCTTGGGAGTAGGGTAGTCAGGTGTCAGAGGGCCAAGGTGGCATCTGGAAGGAAAGGAGGCAGGGGAGGGGGAGTCAGGCCATCCTGCCCCCTCTGCCTGCAGCTGTCTCCCTCCTCCCCGATGGATGCCTGGATCCTGAGCCGCCTTGCCCTGGCTGCCCAGGAGTGTGAGCGGGGCTTCCTCACCCGAGAGCTCTCGCTCGTCACTCATGCCCTGCACCACTTCTGGCTTCACAACCTCTGTGACGTCTACCTGGTGAGTGAGGCTGGGGGAGGCTTGGTATTCCCATGCCTGCTTCTAATTCCTCTGGAAATTTCCAAGGCAGAGAGCTCTGGAGTTAATAAGTTCCCAATTGTCCCCTCAGTTAGGAGAGGAGAGGAGACGAGGGAGTCTCAGTTCCCCTCTTCCTGGGACTGGTTTTGGCAGTGCAGCCCAGGCACTGTTGCCTGCCTGTCACCTGGGGAGAGGAGGAGGAGGGAGACTTCTAGAAATGTCTGACAAGTCGGTGTCAGAAGGCAGAGGGGAATTTTTTCAGTCCCTGTAGTTGCTGAGTTTGGCCCATGGGCAGGCTGCGTGCTGAGAGAGGCCTGGGAGGGACTAGCAGCGGTCTTTAGACCAGGGGTTCTCACGCTGTCCTACGTCCAAAGCACCTGGAGGGCTTGTTGACGGTGGATCCCCCCCGCTCCACTGCCACCCCAGAGTGGCTCCTTTAGCAGGTTGGGGTGGGGGTGGGTGGTGTAATGAATATTCATTTCTTGTCCCAAGTGGTGCTG
|
Task1_train_10102
|
Chromosome 6 houses a mutation in gene LOC126859646, VARS2 (MED14-independent group 3 enhancer GRCh37_chr6:30889690-30890889| valyl-tRNA synthetase 2, mitochondrial). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Combined oxidative phosphorylation defect type 20
|
CTGGGCGGCCCAGCAAGGGCTGGCTCATATCCTTACTCAAGCCCAGAATCTTGGCAAGAGGCTTGGGAGGTCCTTTCTGAGTTTTAAAATGACCTCAGAGGCCACTCGTCCTATCTGTGGAGGTGCGGCCGTGCAGGAAGGGCAACATTGTCTAAAGTCCCCTTTCTCTCCAGGCTGTGGAGTCGGGGGCCCTGGAGCTCAGTCCCTCCTTCCACCAGAAGAACTGGCAGCACTGGTTTTCCCATATTGGGTAAGGGTAGGGTAAGGGGAGCTCTTGTGGAGATGGGGAGGGGGGACTGACTGGTTATTCTAAGACTTCACGAATGTCCTCCCGGCAGGGACTGGTGTGTCTCCCGGCAGCTGTGGTGGGGCCATCAGATTCCAGCCTACCTGGTTGTAGAGGACCATGCGCAGGTGGGTAGGAAGAAGCACCCGGAGGGCCGAGTGTGGCACAGAGCACCTAGCCCAGGAGTCAGAGCTCCGCAGGGCCAAGTCCCGCTCCTGCCTGGTCATGTGCTTCATGCTCATAGTCATGTAACCTTCTGCGCGATCAAGGCTCCCTGAAGTGGCATTTCTTTATCTCACCCCTGGGGGAACCTGGCCACTCTAAGACCACATGAGGACGTGAAAACCAAGTGACATTTACACCTGTCAGCTGTTCTTCCTCACTCTCCCCAACCCCTTCCTACTTTTGCAGGGAGAAGAGGACTGTTGGGTGGTTGGGCGGTCAGAGGCTGAGGCCAGAGAGGTAGCAGCGGAACTGACAGGGAGGCCAGGGGCAGAGCTGACCCTGGAGAGGGGTGAGTGCCTGAGCTGGGGAGGGATGTACAGGGGAGCGGGGGCCTGGGCATCTGGGCCTTTGAGGGGAACAGATCCCAAGATACAGAAGGTAGGGTCAGGAAAGTTGGGAATGGAGCCAAAGGGGACAGCCCTGGTCTCTGGGGGTGGGGGTTGGCCTAGAATGGTGGCAGCAGTGGTCTGAGGTCCTAGAAGCCAAGGTTCCAACTGTCCCCATTCTTTTTCTGTTTCCCAGATCCTGATGTCCTAGACACATGGTTTTCTTCTGCCCTGTTCCCCTTTTCTGCCCTGGGCTGGCCCCAAGAGGTGAGGTGGGTTGAGAGGGCGAAAGTGAAGGGGAAACGATAAGGAAGGGATGGCTGGGCCCCCACAGAGGCTTGAGGGGGGCCTGGGGCCTGGGCCTCTTACTGCTCCTCTTCCCCCTAGACCCCAGACCTTGCTCGTTTCTACCCCCTGTCACTTTTGGAAACGGGCAGCGACCTTCTGCTGTTCTGGGTGGGCCGCATGGTCATGTTGGGGACCCAGCTCACAGGGCAGCTGCCCTTCAGCAAGGTAAGAGCCCTTCAGTGCCCTGCCGCTTTCTGTGACTCCAGTGTTCCCCAAACCTTGTCCTCCCTTCTAACCCCTAATGTGGTCCTTTCCACGTTGCTGATTCCTTTTTCCTAATTCACTTCCTACCCTACCCCCAAAAGTATGGAGGCCAGAGATCCCAAGGCACCTCCAAGGAAACCCCCCTCTGTTGACCCCTCCCTGCCCCCAGGTGCTTCTTCATCCCATGGTTCGGGACAGGCAGGGCCGGAAGATGAGCAAGTCCCTGGGGAATGTGCTGGACCCAAGAGACATCATCAGTGGGGTGGAGATGCAGGTGAGGACGAAGCACCCACTAGAGGGACAAGGTTTGCAGGGTTTGCAGGAGAGAGGAAGGCAGGCTGAGGGAGGAGTGAGGCCAGCAGGTGTGACCCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCTCTGGCTTCCTCTGCAACCCAGGTCCTGGCCCTGCAGCCACAAAGGCATCTGCCACCCTTCTTCTTCCTCTGGTTGCAGAAAAAGGACTTTCCTCACGGGATCCCTGAGTGTGGGACAGATGCCCTGAGATTCACACTCTGCTCCCATGGAGTTCAGGGTAAGCCTGGGCGAGGGGTGTCGGGGTGAGCAGAGGGCAGCGGGCACCTGTGCAGGGGCAGGGCAGGGGCAGGACTTCTGGTGCTGCTGCCACCTACATGCAGACTACCTCGATTCTTCCCTTCCAGCGGGCGACTTGCACCTGTCAGTCTCTGAGGTCCAGAGCTGCCGACATTTCTGCAACAAGATCTGGAATGCTCTTCGCTTTATCCTCAATGCTTTAGGGGAGAAATTTGTGCCACAGCCTGCTGAGGAGGTAAGAGAAAACAGAGGTGCTTGGGAGTAGGGTAGTCAGGTGTCAGAGGGCCAAGGTGGCATCTGGAAGGAAAGGAGGCAGGGGAGGGGGAGTCAGGCCATCCTGCCCCCTCTGCCTGCAGCTGTCTCCCTCCTCCCCGATGGATGCCTGGATCCTGAGCCGCCTTGCCCTGGCTGCCCAGGAGTGTGAGCGGGGCTTCCTCACCCGAGAGCTCTCGCTCGTCACTCATGCCCTGCACCACTTCTGGCTTCACAACCTCTGTGACGTCTACCTGGTGAGTGAGGCTGGGGGAGGCTTGGTATTCCCATGCCTGCTTCTAATTCCTCTGGAAATTTCCAAGGCAGAGAGCTCTGGAGTTAATAAGTTCCCAATTGTCCCCTCAGTTAGGAGAGGAGAGGAGACGAGGGAGTCTCAGTTCCCCTCTTCCTGGGACTGGTTTTGGCAGTGCAGCCCAGGCACTGTTGCCTGCCTGTCACCTGGGGAGAGGAGGAGGAGGGAGACTTCTAGAAATGTCTGACAAGTCGGTGTCAGAAGGCAGAGGGGAATTTTTTCAGTCCCTGTAGTTGCTGAGTTTGGCCCATGGGCAGGCTGCGTGCTGAGAGAGGCCTGGGAGGGACTAGCAGCGGTCTTTAGACCAGGGGTTCTCACGCTGTCCTACGTCCAAAGCACCTGGAGGGCTTGTTGACGGTGGATCCCCCCCGCTCCACTGCCACCCCAGAGTGGCTCCTTTAGCAGGTTGGGGTGGGGGTGGGTGGTGTAATGAATATTCATTTCTTGTCCCAAGTGGTGCTGCTGCTGCTGGCTGTGGACCACTGCCCTAGCTCAGCCTTTTAAAAACCTCTGTCCCCTGTTGATAAGCAAAAAACTCAATGATTTTTTTCCCTAAACTACATGTTTCCCTGGAAATCCTGTCCCTGTGTACTGCAGAGAATTGCTGTCCTGGAGTCCCCTTCTTTGTGCTGAGTGTGTCCTGGGACTGTGGATCATATCAGAAGTGCTAAGTGCTTCTGCCTGTCCCTCTCTCCCAGGACCCATGGCCTGCCCCACTGGCGGGTAGCAGTGGCTGTAGGGAGGAGGGCTGTGGCCCTGGACCTGTCCTCTGACCATTGGCTTCCTCTCCAGGAGGCTGTGAAGCCCGTGCTGTGGCACTCGCCCCGCCCCCTGGGGCCCCCTCAGGTCCTGTTCTCCTGCGCTGACCTCGGCCTCCGCCTCCTGGCCCCACTGATGCCCTTCCTGGCTGAAGAGCTCTGGCAGAGGCTGCCCCCCAGGCCTGGTTGCCCCCCTGCCCCCAGCATCTCGGTTGCCCCCTACCCCAGCGCCTGCAGCTTGGTGAGTCCCAAGCACCTTGGAGTGGGTCTGTGGGTGAATGGGGGGGAGCACCTTCTGAAGGGGTTTGCTGCAGGGGGCTCATCTGCAGGAATGGTTCGTACTTTACTGTGGAGCCCTGGGGAAGATGGATTGTTCCTGCAGGGTTGCTGCGATGACCCTAGGGTCTTGAGGGACAGTATTAGCGTAGTGCTCAAGAGCAGGACTCTGTTGCTAGACTGCTATTTTTGAGCTGTGTGATCGAGCCTCAGTTTCCCGCATGTTTAAACTAGGAACAGTAATAGTATATGTTATGGTTGTGATGAGGGTTGGATAAGTTAGTAATAGGGTGTCCCCAAAATCTCAGTGCAGCTTTAATAACTTCAGAAGGATAAATGCTATGAACTCACCCAAAAATTATTTTAAAATTTAACTATTTAAATTTATACTT
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CTGGGCGGCCCAGCAAGGGCTGGCTCATATCCTTACTCAAGCCCAGAATCTTGGCAAGAGGCTTGGGAGGTCCTTTCTGAGTTTTAAAATGACCTCAGAGGCCACTCGTCCTATCTGTGGAGGTGCGGCCGTGCAGGAAGGGCAACATTGTCTAAAGTCCCCTTTCTCTCCAGGCTGTGGAGTCGGGGGCCCTGGAGCTCAGTCCCTCCTTCCACCAGAAGAACTGGCAGCACTGGTTTTCCCATATTGGGTAAGGGTAGGGTAAGGGGAGCTCTTGTGGAGATGGGGAGGGGGGACTGACTGGTTATTCTAAGACTTCACGAATGTCCTCCCGGCAGGGACTGGTGTGTCTCCCGGCAGCTGTGGTGGGGCCATCAGATTCCAGCCTACCTGGTTGTAGAGGACCATGCGCAGGTGGGTAGGAAGAAGCACCCGGAGGGCCGAGTGTGGCACAGAGCACCTAGCCCAGGAGTCAGAGCTCCGCAGGGCCAAGTCCCGCTCCTGCCTGGTCATGTGCTTCATGCTCATAGTCATGTAACCTTCTGCGCGATCAAGGCTCCCTGAAGTGGCATTTCTTTATCTCACCCCTGGGGGAACCTGGCCACTCTAAGACCACATGAGGACGTGAAAACCAAGTGACATTTACACCTGTCAGCTGTTCTTCCTCACTCTCCCCAACCCCTTCCTACTTTTGCAGGGAGAAGAGGACTGTTGGGTGGTTGGGCGGTCAGAGGCTGAGGCCAGAGAGGTAGCAGCGGAACTGACAGGGAGGCCAGGGGCAGAGCTGACCCTGGAGAGGGGTGAGTGCCTGAGCTGGGGAGGGATGTACAGGGGAGCGGGGGCCTGGGCATCTGGGCCTTTGAGGGGAACAGATCCCAAGATACAGAAGGTAGGGTCAGGAAAGTTGGGAATGGAGCCAAAGGGGACAGCCCTGGTCTCTGGGGGTGGGGGTTGGCCTAGAATGGTGGCAGCAGTGGTCTGAGGTCCTAGAAGCCAAGGTTCCAACTGTCCCCATTCTTTTTCTGTTTCCCAGATCCTGATGTCCTAGACACATGGTTTTCTTCTGCCCTGTTCCCCTTTTCTGCCCTGGGCTGGCCCCAAGAGGTGAGGTGGGTTGAGAGGGCGAAAGTGAAGGGGAAACGATAAGGAAGGGATGGCTGGGCCCCCACAGAGGCTTGAGGGGGGCCTGGGGCCTGGGCCTCTTACTGCTCCTCTTCCCCCTAGACCCCAGACCTTGCTCGTTTCTACCCCCTGTCACTTTTGGAAACGGGCAGCGACCTTCTGCTGTTCTGGGTGGGCCGCATGGTCATGTTGGGGACCCAGCTCACAGGGCAGCTGCCCTTCAGCAAGGTAAGAGCCCTTCAGTGCCCTGCCGCTTTCTGTGACTCCAGTGTTCCCCAAACCTTGTCCTCCCTTCTAACCCCTAATGTGGTCCTTTCCACGTTGCTGATTCCTTTTTCCTAATTCACTTCCTACCCTACCCCCAAAAGTATGGAGGCCAGAGATCCCAAGGCACCTCCAAGGAAACCCCCCTCTGTTGACCCCTCCCTGCCCCCAGGTGCTTCTTCATCCCATGGTTCGGGACAGGCAGGGCCGGAAGATGAGCAAGTCCCTGGGGAATGTGCTGGACCCAAGAGACATCATCAGTGGGGTGGAGATGCAGGTGAGGACGAAGCACCCACTAGAGGGACAAGGTTTGCAGGGTTTGCAGGAGAGAGGAAGGCAGGCTGAGGGAGGAGTGAGGCCAGCAGGTGTGACCCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCTCTGGCTTCCTCTGCAACCCAGGTCCTGGCCCTGCAGCCACAAAGGCATCTGCCACCCTTCTTCTTCCTCTGGTTGCAGAAAAAGGACTTTCCTCACGGGATCCCTGAGTGTGGGACAGATACCCTGAGATTCACACTCTGCTCCCATGGAGTTCAGGGTAAGCCTGGGCGAGGGGTGTCGGGGTGAGCAGAGGGCAGCGGGCACCTGTGCAGGGGCAGGGCAGGGGCAGGACTTCTGGTGCTGCTGCCACCTACATGCAGACTACCTCGATTCTTCCCTTCCAGCGGGCGACTTGCACCTGTCAGTCTCTGAGGTCCAGAGCTGCCGACATTTCTGCAACAAGATCTGGAATGCTCTTCGCTTTATCCTCAATGCTTTAGGGGAGAAATTTGTGCCACAGCCTGCTGAGGAGGTAAGAGAAAACAGAGGTGCTTGGGAGTAGGGTAGTCAGGTGTCAGAGGGCCAAGGTGGCATCTGGAAGGAAAGGAGGCAGGGGAGGGGGAGTCAGGCCATCCTGCCCCCTCTGCCTGCAGCTGTCTCCCTCCTCCCCGATGGATGCCTGGATCCTGAGCCGCCTTGCCCTGGCTGCCCAGGAGTGTGAGCGGGGCTTCCTCACCCGAGAGCTCTCGCTCGTCACTCATGCCCTGCACCACTTCTGGCTTCACAACCTCTGTGACGTCTACCTGGTGAGTGAGGCTGGGGGAGGCTTGGTATTCCCATGCCTGCTTCTAATTCCTCTGGAAATTTCCAAGGCAGAGAGCTCTGGAGTTAATAAGTTCCCAATTGTCCCCTCAGTTAGGAGAGGAGAGGAGACGAGGGAGTCTCAGTTCCCCTCTTCCTGGGACTGGTTTTGGCAGTGCAGCCCAGGCACTGTTGCCTGCCTGTCACCTGGGGAGAGGAGGAGGAGGGAGACTTCTAGAAATGTCTGACAAGTCGGTGTCAGAAGGCAGAGGGGAATTTTTTCAGTCCCTGTAGTTGCTGAGTTTGGCCCATGGGCAGGCTGCGTGCTGAGAGAGGCCTGGGAGGGACTAGCAGCGGTCTTTAGACCAGGGGTTCTCACGCTGTCCTACGTCCAAAGCACCTGGAGGGCTTGTTGACGGTGGATCCCCCCCGCTCCACTGCCACCCCAGAGTGGCTCCTTTAGCAGGTTGGGGTGGGGGTGGGTGGTGTAATGAATATTCATTTCTTGTCCCAAGTGGTGCTGCTGCTGCTGGCTGTGGACCACTGCCCTAGCTCAGCCTTTTAAAAACCTCTGTCCCCTGTTGATAAGCAAAAAACTCAATGATTTTTTTCCCTAAACTACATGTTTCCCTGGAAATCCTGTCCCTGTGTACTGCAGAGAATTGCTGTCCTGGAGTCCCCTTCTTTGTGCTGAGTGTGTCCTGGGACTGTGGATCATATCAGAAGTGCTAAGTGCTTCTGCCTGTCCCTCTCTCCCAGGACCCATGGCCTGCCCCACTGGCGGGTAGCAGTGGCTGTAGGGAGGAGGGCTGTGGCCCTGGACCTGTCCTCTGACCATTGGCTTCCTCTCCAGGAGGCTGTGAAGCCCGTGCTGTGGCACTCGCCCCGCCCCCTGGGGCCCCCTCAGGTCCTGTTCTCCTGCGCTGACCTCGGCCTCCGCCTCCTGGCCCCACTGATGCCCTTCCTGGCTGAAGAGCTCTGGCAGAGGCTGCCCCCCAGGCCTGGTTGCCCCCCTGCCCCCAGCATCTCGGTTGCCCCCTACCCCAGCGCCTGCAGCTTGGTGAGTCCCAAGCACCTTGGAGTGGGTCTGTGGGTGAATGGGGGGGAGCACCTTCTGAAGGGGTTTGCTGCAGGGGGCTCATCTGCAGGAATGGTTCGTACTTTACTGTGGAGCCCTGGGGAAGATGGATTGTTCCTGCAGGGTTGCTGCGATGACCCTAGGGTCTTGAGGGACAGTATTAGCGTAGTGCTCAAGAGCAGGACTCTGTTGCTAGACTGCTATTTTTGAGCTGTGTGATCGAGCCTCAGTTTCCCGCATGTTTAAACTAGGAACAGTAATAGTATATGTTATGGTTGTGATGAGGGTTGGATAAGTTAGTAATAGGGTGTCCCCAAAATCTCAGTGCAGCTTTAATAACTTCAGAAGGATAAATGCTATGAACTCACCCAAAAATTATTTTAAAATTTAACTATTTAAATTTATACTT
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Task1_train_10103
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Here’s a variant in VARS2 (valyl-tRNA synthetase 2, mitochondrial) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Combined oxidative phosphorylation defect type 20
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CAGGGGAGGGGGAGTCAGGCCATCCTGCCCCCTCTGCCTGCAGCTGTCTCCCTCCTCCCCGATGGATGCCTGGATCCTGAGCCGCCTTGCCCTGGCTGCCCAGGAGTGTGAGCGGGGCTTCCTCACCCGAGAGCTCTCGCTCGTCACTCATGCCCTGCACCACTTCTGGCTTCACAACCTCTGTGACGTCTACCTGGTGAGTGAGGCTGGGGGAGGCTTGGTATTCCCATGCCTGCTTCTAATTCCTCTGGAAATTTCCAAGGCAGAGAGCTCTGGAGTTAATAAGTTCCCAATTGTCCCCTCAGTTAGGAGAGGAGAGGAGACGAGGGAGTCTCAGTTCCCCTCTTCCTGGGACTGGTTTTGGCAGTGCAGCCCAGGCACTGTTGCCTGCCTGTCACCTGGGGAGAGGAGGAGGAGGGAGACTTCTAGAAATGTCTGACAAGTCGGTGTCAGAAGGCAGAGGGGAATTTTTTCAGTCCCTGTAGTTGCTGAGTTTGGCCCATGGGCAGGCTGCGTGCTGAGAGAGGCCTGGGAGGGACTAGCAGCGGTCTTTAGACCAGGGGTTCTCACGCTGTCCTACGTCCAAAGCACCTGGAGGGCTTGTTGACGGTGGATCCCCCCCGCTCCACTGCCACCCCAGAGTGGCTCCTTTAGCAGGTTGGGGTGGGGGTGGGTGGTGTAATGAATATTCATTTCTTGTCCCAAGTGGTGCTGCTGCTGCTGGCTGTGGACCACTGCCCTAGCTCAGCCTTTTAAAAACCTCTGTCCCCTGTTGATAAGCAAAAAACTCAATGATTTTTTTCCCTAAACTACATGTTTCCCTGGAAATCCTGTCCCTGTGTACTGCAGAGAATTGCTGTCCTGGAGTCCCCTTCTTTGTGCTGAGTGTGTCCTGGGACTGTGGATCATATCAGAAGTGCTAAGTGCTTCTGCCTGTCCCTCTCTCCCAGGACCCATGGCCTGCCCCACTGGCGGGTAGCAGTGGCTGTAGGGAGGAGGGCTGTGGCCCTGGACCTGTCCTCTGACCATTGGCTTCCTCTCCAGGAGGCTGTGAAGCCCGTGCTGTGGCACTCGCCCCGCCCCCTGGGGCCCCCTCAGGTCCTGTTCTCCTGCGCTGACCTCGGCCTCCGCCTCCTGGCCCCACTGATGCCCTTCCTGGCTGAAGAGCTCTGGCAGAGGCTGCCCCCCAGGCCTGGTTGCCCCCCTGCCCCCAGCATCTCGGTTGCCCCCTACCCCAGCGCCTGCAGCTTGGTGAGTCCCAAGCACCTTGGAGTGGGTCTGTGGGTGAATGGGGGGGAGCACCTTCTGAAGGGGTTTGCTGCAGGGGGCTCATCTGCAGGAATGGTTCGTACTTTACTGTGGAGCCCTGGGGAAGATGGATTGTTCCTGCAGGGTTGCTGCGATGACCCTAGGGTCTTGAGGGACAGTATTAGCGTAGTGCTCAAGAGCAGGACTCTGTTGCTAGACTGCTATTTTTGAGCTGTGTGATCGAGCCTCAGTTTCCCGCATGTTTAAACTAGGAACAGTAATAGTATATGTTATGGTTGTGATGAGGGTTGGATAAGTTAGTAATAGGGTGTCCCCAAAATCTCAGTGCAGCTTTAATAACTTCAGAAGGATAAATGCTATGAACTCACCCAAAAATTATTTTAAAATTTAACTATTTAAATTTATACTTATTTGGTTTTGAGTTTTGACTAATTCATTTTAAATTCTAATTTATTTTTGGTTGGCCATTTCAATCACAGCAACTAAACAGGCATCAAACACTGATCATCTAAAACCTCTTAAATGACGCCTCACTTTTTGTCATGTTCCTTGAGATAGTGGATTTTCTGTGGTGCTGAGGACAGATCTCATTGCCCTAAGGAGATGGGGTGGATGGGTCGAGAAGAGAGCCAGCAGGGTTGGTACTGAGTCTCCCAGGAGCCCCTTTGCCAATTCTGGGTCCCCCCCATTGCCAGGAGCACTGGCGCCAGCCAGAGCTGGAGCGGCGCTTCTCCCGGGTCCAAGAGGTCGTGCAGGTGCTAAGGGCTCTCCGAGCCACGTACCAGCTCACCAAAGCCCGGCCCCGAGGTGAGGCAAGGCGGGTCCTGGGCTCGGATCCCTGCAGGAAAAGGGGGCTGGTGGGGAAAAGAGCAGAGCCTGAAGGGCCAACCCCCCCGTTAGGAGGTGCAGGGTAGGAAGGGAGGCAGGAGCTGAGGCCTTGCCCCTGACAGTTTCTTTCTTTCCAGTGCTGCTGCAGAGCTCAGAGCCTGGGGACCAGGGCCTCTTCGAGGCCTTCTTGGAGCCCCTGGGCACCCTGGGCTACTGTGGGGCTGTGGGCCTGTTACCCCCAGGCGCAGCAGCTCCCTCCGGCTGGGCCCAGGCTCCACTCAGTGACACGGCTCAAGTCTACATGGAGCTGCAGGTGACCAGAGGGGATGGGGAGGGTTAGGGCAGGCTTGGGAAGCATGCTGGGAGGAAGGGAGGGGCTGGGCTCTATAAAGTAGGGGAAGGGACCTTCTAATGGAGGATGGAGGCCTGGCAGCAGGCGGATGTCTGAGCCTTTTCTCCCTGTTCTTCCCCAGGGCCTGGTGGACCCGCAGATCCAGCTACCTCTGTTAGCCGCCCGAAGGTACAAGTTGCAGAAGCAGCTTGACAGCCTCACAGCCAGGACCCCATCAGAAGGGGAGGCAGGGACTCAGAGGCAACAAAAGGTAAGGCTGAGGGAGGCCCCCAGAAGGCTCCACCCCTGAGGGAATGTGGGCCAGGAGGGGCCTCATTCCTGGATCCTCACCTCCTTTTCTCCTCGTCCAGCTTTCTTCCCTCCAGCTGGAATTGTCAAAACTGGACAAGGCAGCCTCTCACCTCCGGCAGCTGATGGATGAGCCTCCAGCCCCAGGGAGCCCGGAGCTCTAACTCATCATCCCCATCAGTTTTCCTCCCTCTCAGACCTGTCTTTGAGGACAAACAGATTTGTCAGCTGTCAGGGTGCAGTGGGACGTCAGAGACTATGTGGTCCATCGCCTTCATTGTGTAAATGAGGACACAGACTGGCTTGGTCGCAGTGACTGTGGTGTCCTTGAGATGCTCACATTACTGCCCGGCCTGCCTCCCACCTGGAAGTCTGGGAATGAGGAGATTGAGATAAACTTTTGAAATCCCAAACATGTCTGTTTATGGCTCTTTGGTCCCCTTTGCTCCCAGTGGTGACTTTTGTGCTTCTGAGTTGTCCCCTGAGAGCTTGGTCTGGGAAAAGAGGAGGAGGGGTCCTCGCTGGAGGAAGAGGAACTTTCTAGTCATGGGTAGGGTATGGGCACAGTGGTTCCGGTTCTACCTACTTTCTGGACTAACTGACAGTGCCCTGGCTTTTGCAGGCTCTTTCTCCTCCACTTCTCACTAAATGGAAGCTTCCCCGCTCCTTGGCTGTATCCCTAGAGGTGCTGAGAGAAGTAGGACTTCCTCCAGACCTGATGGGCTGCAGGCTGTGCTGCAGATGGTGTGCCCCCACCTTCTGTGCTCTGACACCTGAGTGCCCAGCCTCTGAGTTACACATTCACAGCACAGCCAGCCACCTTACCCACGCCAAACACCATCTCATCTCCATGGAATTCAAGGGCCTGGCCCTTCCACGCCCAGAGTACATTCTGTCCAGCAGCTCTGAGTAGCCTGTCCTGGGCTGGGTCCTCTGTGGTGCTAGATGTACAATGCCATTTAATCCTACTGAAAACCTCATGAGGCGGGTGTTAGCTCCATTTTGGAGATTTTTATTTTTACTTTATTTTTGGGACAGGGTCTCGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATAATCATGGCTCACTGTAGCCTCAACCTCCAGGGCTCTAGTGATCCTCCTGCCTCAGACTTCTGAGTAGCTGGGACCACAGGTGTGCACCACTGTGCCCTGCTACTTTTTTTTTTTTTTTTTTTTTTGGAAACGGAGTCTTGCTTTGTCACCTAGGCTGGAGTGCACTGGTGAGATCTTGGCTCACTGCAACCTCTACCTCTCTGGTACAAGTGATTCTCCTGCCTTAGCCTCTTGAGTAGCTGGGATTACAGTTGTCTGTCACCACGCCCAGCTAAATTTTTT
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CAGGGGAGGGGGAGTCAGGCCATCCTGCCCCCTCTGCCTGCAGCTGTCTCCCTCCTCCCCGATGGATGCCTGGATCCTGAGCCGCCTTGCCCTGGCTGCCCAGGAGTGTGAGCGGGGCTTCCTCACCCGAGAGCTCTCGCTCGTCACTCATGCCCTGCACCACTTCTGGCTTCACAACCTCTGTGACGTCTACCTGGTGAGTGAGGCTGGGGGAGGCTTGGTATTCCCATGCCTGCTTCTAATTCCTCTGGAAATTTCCAAGGCAGAGAGCTCTGGAGTTAATAAGTTCCCAATTGTCCCCTCAGTTAGGAGAGGAGAGGAGACGAGGGAGTCTCAGTTCCCCTCTTCCTGGGACTGGTTTTGGCAGTGCAGCCCAGGCACTGTTGCCTGCCTGTCACCTGGGGAGAGGAGGAGGAGGGAGACTTCTAGAAATGTCTGACAAGTCGGTGTCAGAAGGCAGAGGGGAATTTTTTCAGTCCCTGTAGTTGCTGAGTTTGGCCCATGGGCAGGCTGCGTGCTGAGAGAGGCCTGGGAGGGACTAGCAGCGGTCTTTAGACCAGGGGTTCTCACGCTGTCCTACGTCCAAAGCACCTGGAGGGCTTGTTGACGGTGGATCCCCCCCGCTCCACTGCCACCCCAGAGTGGCTCCTTTAGCAGGTTGGGGTGGGGGTGGGTGGTGTAATGAATATTCATTTCTTGTCCCAAGTGGTGCTGCTGCTGCTGGCTGTGGACCACTGCCCTAGCTCAGCCTTTTAAAAACCTCTGTCCCCTGTTGATAAGCAAAAAACTCAATGATTTTTTTCCCTAAACTACATGTTTCCCTGGAAATCCTGTCCCTGTGTACTGCAGAGAATTGCTGTCCTGGAGTCCCCTTCTTTGTGCTGAGTGTGTCCTGGGACTGTGGATCATATCAGAAGTGCTAAGTGCTTCTGCCTGTCCCTCTCTCCCAGGACCCATGGCCTGCCCCACTGGCGGGTAGCAGTGGCTGTAGGGAGGAGGGCTGTGGCCCTGGACCTGTCCTCTGACCATTGGCTTCCTCTCCAGGAGGCTGTGAAGCCCGTGCTGTGGCACTCGCCCCGCCCCCTGGGGCCCCCTCAGGTCCTGTTCTCCTGCGCTGACCTCGGCCTCCGCCTCCTGGCCCCACTGATGCCCTTCCTGGCTGAAGAGCTCTGGCAGAGGCTGCCCCCCAGGCCTGGTTGCCCCCCTGCCCCCAGCATCTCGGTTGCCCCCTACCCCAGCGCCTGCAGCTTGGTGAGTCCCAAGCACCTTGGAGTGGGTCTGTGGGTGAATGGGGGGGAGCACCTTCTGAAGGGGTTTGCTGCAGGGGGCTCATCTGCAGGAATGGTTCGTACTTTACTGTGGAGCCCTGGGGAAGATGGATTGTTCCTGCAGGGTTGCTGCGATGACCCTAGGGTCTTGAGGGACAGTATTAGCGTAGTGCTCAAGAGCAGGACTCTGTTGCTAGACTGCTATTTTTGAGCTGTGTGATCGAGCCTCAGTTTCCCGCATGTTTAAACTAGGAACAGTAATAGTATATGTTATGGTTGTGATGAGGGTTGGATAAGTTAGTAATAGGGTGTCCCCAAAATCTCAGTGCAGCTTTAATAACTTCAGAAGGATAAATGCTATGAACTCACCCAAAAATTATTTTAAAATTTAACTATTTAAATTTATACTTATTTGGTTTTGAGTTTTGACTAATTCATTTTAAATTCTAATTTATTTTTGGTTGGCCATTTCAATCACAGCAACTAAACAGGCATCAAACACTGATCATCTAAAACCTCTTAAATGACGCCTCACTTTTTGTCATGTTCCTTGAGATAGTGGATTTTCTGTGGTGCTGAGGACAGATCTCATTGCCCTAAGGAGATGGGGTGGATGGGTCGAGAAGAGAGCCAGCAGGGTTGGTACTGAGTCTCCCAGGAGCCCCTTTGCCAATTCTGGGTCCCCCCCATTGCCAGGAGCACTGGCGCCAGCCAGAGCTGGAGCGGCGCTTCTCCCGGGTCCAAGAGGTCGTGCAGGTGCTAAGGGCTCTCCGAGCCACGCACCAGCTCACCAAAGCCCGGCCCCGAGGTGAGGCAAGGCGGGTCCTGGGCTCGGATCCCTGCAGGAAAAGGGGGCTGGTGGGGAAAAGAGCAGAGCCTGAAGGGCCAACCCCCCCGTTAGGAGGTGCAGGGTAGGAAGGGAGGCAGGAGCTGAGGCCTTGCCCCTGACAGTTTCTTTCTTTCCAGTGCTGCTGCAGAGCTCAGAGCCTGGGGACCAGGGCCTCTTCGAGGCCTTCTTGGAGCCCCTGGGCACCCTGGGCTACTGTGGGGCTGTGGGCCTGTTACCCCCAGGCGCAGCAGCTCCCTCCGGCTGGGCCCAGGCTCCACTCAGTGACACGGCTCAAGTCTACATGGAGCTGCAGGTGACCAGAGGGGATGGGGAGGGTTAGGGCAGGCTTGGGAAGCATGCTGGGAGGAAGGGAGGGGCTGGGCTCTATAAAGTAGGGGAAGGGACCTTCTAATGGAGGATGGAGGCCTGGCAGCAGGCGGATGTCTGAGCCTTTTCTCCCTGTTCTTCCCCAGGGCCTGGTGGACCCGCAGATCCAGCTACCTCTGTTAGCCGCCCGAAGGTACAAGTTGCAGAAGCAGCTTGACAGCCTCACAGCCAGGACCCCATCAGAAGGGGAGGCAGGGACTCAGAGGCAACAAAAGGTAAGGCTGAGGGAGGCCCCCAGAAGGCTCCACCCCTGAGGGAATGTGGGCCAGGAGGGGCCTCATTCCTGGATCCTCACCTCCTTTTCTCCTCGTCCAGCTTTCTTCCCTCCAGCTGGAATTGTCAAAACTGGACAAGGCAGCCTCTCACCTCCGGCAGCTGATGGATGAGCCTCCAGCCCCAGGGAGCCCGGAGCTCTAACTCATCATCCCCATCAGTTTTCCTCCCTCTCAGACCTGTCTTTGAGGACAAACAGATTTGTCAGCTGTCAGGGTGCAGTGGGACGTCAGAGACTATGTGGTCCATCGCCTTCATTGTGTAAATGAGGACACAGACTGGCTTGGTCGCAGTGACTGTGGTGTCCTTGAGATGCTCACATTACTGCCCGGCCTGCCTCCCACCTGGAAGTCTGGGAATGAGGAGATTGAGATAAACTTTTGAAATCCCAAACATGTCTGTTTATGGCTCTTTGGTCCCCTTTGCTCCCAGTGGTGACTTTTGTGCTTCTGAGTTGTCCCCTGAGAGCTTGGTCTGGGAAAAGAGGAGGAGGGGTCCTCGCTGGAGGAAGAGGAACTTTCTAGTCATGGGTAGGGTATGGGCACAGTGGTTCCGGTTCTACCTACTTTCTGGACTAACTGACAGTGCCCTGGCTTTTGCAGGCTCTTTCTCCTCCACTTCTCACTAAATGGAAGCTTCCCCGCTCCTTGGCTGTATCCCTAGAGGTGCTGAGAGAAGTAGGACTTCCTCCAGACCTGATGGGCTGCAGGCTGTGCTGCAGATGGTGTGCCCCCACCTTCTGTGCTCTGACACCTGAGTGCCCAGCCTCTGAGTTACACATTCACAGCACAGCCAGCCACCTTACCCACGCCAAACACCATCTCATCTCCATGGAATTCAAGGGCCTGGCCCTTCCACGCCCAGAGTACATTCTGTCCAGCAGCTCTGAGTAGCCTGTCCTGGGCTGGGTCCTCTGTGGTGCTAGATGTACAATGCCATTTAATCCTACTGAAAACCTCATGAGGCGGGTGTTAGCTCCATTTTGGAGATTTTTATTTTTACTTTATTTTTGGGACAGGGTCTCGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATAATCATGGCTCACTGTAGCCTCAACCTCCAGGGCTCTAGTGATCCTCCTGCCTCAGACTTCTGAGTAGCTGGGACCACAGGTGTGCACCACTGTGCCCTGCTACTTTTTTTTTTTTTTTTTTTTTTGGAAACGGAGTCTTGCTTTGTCACCTAGGCTGGAGTGCACTGGTGAGATCTTGGCTCACTGCAACCTCTACCTCTCTGGTACAAGTGATTCTCCTGCCTTAGCCTCTTGAGTAGCTGGGATTACAGTTGTCTGTCACCACGCCCAGCTAAATTTTTT
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Task1_train_10104
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This variant impacts the gene TNF (tumor necrosis factor) on Chromosome 6. Is the change likely to result in a pathogenic outcome?
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Pathogenic; TNF receptor binding, altered
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TTCTCTCCCTCAAGGACTCAGCTTTCTGAAGCCCCTCCCAGTTCTAGTTCTATCTTTTTCCTGCATCCTGTCTGGAAGTTAGAAGGAAACAGACCACAGACCTGGTCCCCAAAAGAAATGGAGGCAATAGGTTTTGAGGGGCATGGGGACGGGGTTCAGCCTCCAGGGTCCTACACACAAATCAGTCAGTGGCCCAGAAGACCCCCCTCGGAATCGGAGCAGGGAGGATGGGGAGTGTGAGGGGTATCCTTGATGCTTGTGTGTCCCCAACTTTCCAAATCCCCGCCCCCGCGATGGAGAAGAAACCGAGACAGAAGGTGCAGGGCCCACTACCGCTTCCTCCAGATGAGCTCATGGGTTTCTCCACCAAGGAAGTTTTCCGCTGGTTGAATGATTCTTTCCCCGCCCTCCTCTCGCCCCAGGGACATATAAAGGCAGTTGTTGGCACACCCAGCCAGCAGACGCTCCCTCAGCAAGGACAGCAGAGGACCAGCTAAGAGGGAGAGAAGCAACTACAGACCCCCCCTGAAAACAACCCTCAGACGCCACATCCCCTGACAAGCTGCCAGGCAGGTTCTCTTCCTCTCACATACTGACCCACGGCTCCACCCTCTCTCCCCTGGAAAGGACACCATGAGCACTGAAAGCATGATCCGGGACGTGGAGCTGGCCGAGGAGGCGCTCCCCAAGAAGACAGGGGGGCCCCAGGGCTCCAGGCGGTGCTTGTTCCTCAGCCTCTTCTCCTTCCTGATCGTGGCAGGCGCCACCACGCTCTTCTGCCTGCTGCACTTTGGAGTGATCGGCCCCCAGAGGGAAGAGGTGAGTGCCTGGCCAGCCTTCATCCACTCTCCCACCCAAGGGGAAATGGAGACGCAAGAGAGGGAGAGAGATGGGATGGGTGAAAGATGTGCGCTGATAGGGAGGGATGGAGAGAAAAAAACGTGGAGAAAGACGGGGATGCAGAAAGAGATGTGGCAAGAGATGGGGAAGAGAGAGAGAGAAAGATGGAGAGACAGGATGTCTGGCACATGGAAGGTGCTCACTAAGTGTGTATGGAGTGAATGAATGAATGAATGAATGAACAAGCAGATATATAAATAAGATATGGAGACAGATGTGGGGTGTGAGAAGAGAGATGGGGGAAGAAACAAGTGATATGAATAAAGATGGTGAGACAGAAAGAGCGGGAAATATGACAGCTAAGGAGAGAGATGGGGGAGATAAGGAGAGAAGAAGATAGGGTGTCTGGCACACAGAAGACACTCAGGGAAAGAGCTGTTGAATGCCTGGAAGGTGAATACACAGATGAATGGAGAGAGAAAACCAGACACCTCAGGGCTAAGAGCGCAGGCCAGACAGGCAGCCAGCTGTTCCTCCTTTAAGGGTGACTCCCTCGATGTTAACCATTCTCCTTCTCCCCAACAGTTCCCCAGGGACCTCTCTCTAATCAGCCCTCTGGCCCAGGCAGTCAGTAAGTGTCTCCAAACCTCTTTCCTAATTCTGGGTTTGGGTTTGGGGGTAGGGTTAGTACCGGTATGGAAGCAGTGGGGGAAATTTAAAGTTTTGGTCTTGGGGGAGGATGGATGGAGGTGAAAGTAGGGGGGTATTTTCTAGGAAGTTTAAGGGTCTCAGCTTTTTCTTTTCTCTCTCCTCTTCAGGATCATCTTCTCGAACCCCGAGTGACAAGCCTGTAGCCCATGTTGTAGGTAAGAGCTCTGAGGATGTGTCTTGGAACTTGGAGGGCTAGGATTTGGGGATTGAAGCCCGGCTGATGGTAGGCAGAACTTGGAGACAATGTGAGAAGGACTCGCTGAGCTCAAGGGAAGGGTGGAGGAACAGCACAGGCCTTAGTGGGATACTCAGAACGTCATGGCCAGGTGGGATGTGGGATGACAGACAGAGAGGACAGGAACCGGATGTGGGGTGGGCAGAGCTCGAGGGCCAGGATGTGGAGAGTGAACCGACATGGCCACACTGACTCTCCTCTCCCTCTCTCCCTCCCTCCAGCAAACCCTCAAGCTGAGGGGCAGCTCCAGTGGCTGAACCGCCGGGCCAATGCCCTCCTGGCCAATGGCGTGGAGCTGAGAGATAACCAGCTGGTGGTGCCATCAGAGGGCCTGTACCTCATCTACTCCCAGGTCCTCTTCAAGGGCCAAGGCTGCCCCTCCACCCATGTGCTCCTCACCCACACCATCAGCCGCATCGCCGTCTCCTACCAGACCAAGGTCAACCTCCTCTCTGCCATCAAGAGCCCCTGCCAGAGGGAGACCCCAGAGGGGGCTGAGGCCAAGCCCTGGTATGAGCCCATCTATCTGGGAGGGGTCTTCCAGCTGGAGAAGGGTGACCGACTCAGCGCTGAGATCAATCGGCCCGACTATCTCGACTTTGCCGAGTCTGGGCAGGTCTACTTTGGGATCATTGCCCTGTGAGGAGGACGAACATCCAACCTTCCCAAACGCCTCCCCTGCCCCAATCCCTTTATTACCCCCTCCTTCAGACACCCTCAACCTCTTCTGGCTCAAAAAGAGAATTGGGGGCTTAGGGTCGGAACCCAAGCTTAGAACTTTAAGCAACAAGACCACCACTTCGAAACCTGGGATTCAGGAATGTGTGGCCTGCACAGTGAAGTGCTGGCAACCACTAAGAATTCAAACTGGGGCCTCCAGAACTCACTGGGGCCTACAGCTTTGATCCCTGACATCTGGAATCTGGAGACCAGGGAGCCTTTGGTTCTGGCCAGAATGCTGCAGGACTTGAGAAGACCTCACCTAGAAATTGACACAAGTGGACCTTAGGCCTTCCTCTCTCCAGATGTTTCCAGACTTCCTTGAGACACGGAGCCCAGCCCTCCCCATGGAGCCAGCTCCCTCTATTTATGTTTGCACTTGTGATTATTTATTATTTATTTATTATTTATTTATTTACAGATGAATGTATTTATTTGGGAGACCGGGGTATCCTGGGGGACCCAATGTAGGAGCTGCCTTGGCTCAGACATGTTTTCCGTGAAAACGGAGCTGAACAATAGGCTGTTCCCATGTAGCCCCCTGGCCTCTGTGCCTTCTTTTGATTATGTTTTTTAAAATATTTATCTGATTAAGTTGTCTAAACAATGCTGATTTGGTGACCAACTGTCACTCATTGCTGAGCCTCTGCTCCCCAGGGGAGTTGTGTCTGTAATCGCCCTACTATTCAGTGGCGAGAAATAAAGTTTGCTTAGAAAAGAAACATGGTCTCCTTCTTGGAATTAATTCTGCATCTGCCTCTTCTTGTGGGTGGGAAGAAGCTCCCTAAGTCCTCTCTCCACAGGCTTTAAGATCCCTCGGACCCAGTCCCATCCTTAGACTCCTAGGGCCCTGGAGACCCTACATAAACAAAGCCCAACAGAATATTCCCCATCCCCCAGGAAACAAGAGCCTGAACCTAATTACCTCTCCCTCAGGGCATGGGAATTTCCAACTCTGGGAATTCCAATCCTTGCTGGGAAAATCCTGCAGCTCAGGTGAGATTTCCGGCTGTTGCAGCTGGCCAGCAGTCCGGAGAGAGCTGGAGAGGAGCCGCATTCTCAGGTACCTGAATCACACAGCCAAGGGACTTCCAGAGATTCGGGTGTCTAGGCTTCAAATCACCCTGTCCTAACTCTGCAACCTGAACCAGCCACTTAACCTATCTATCCAATGGGGATAGGAATGTCCACCACACATAGGGCATGTGAGAGAAGGCCTGACCTCCATCAGAGGACCTCACTCAGCCCTTGGCACAGTGGGCACTTAGTGAATTCTGGCTTCCTTCAACCAGTTTCCAGCTGTTCTATCCCCTTCCATTCTCTCAGTGGGTGAAATCGAAGAGACTGAGGACAATAAAGAACAAGGAACCGAACTGCCGGACGTGGTGGCATGCACCTGTAATCCTACCACTTTGCAAGGCCAAGGTGAGAGGATCGCTTGAACCCAGGAGTTCCAGAGCAACCTGGGCAACATAGTGAGATCCTGTCTCTATTTTTTAAAAAAGAATGAAACATAGGAATAAGATGTGGGTGAAGGACTCACATGCCGGCTTGGTCCCACTGGTCTTTGTGGTGAAGGAGGGGAGAGGT
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TTCTCTCCCTCAAGGACTCAGCTTTCTGAAGCCCCTCCCAGTTCTAGTTCTATCTTTTTCCTGCATCCTGTCTGGAAGTTAGAAGGAAACAGACCACAGACCTGGTCCCCAAAAGAAATGGAGGCAATAGGTTTTGAGGGGCATGGGGACGGGGTTCAGCCTCCAGGGTCCTACACACAAATCAGTCAGTGGCCCAGAAGACCCCCCTCGGAATCGGAGCAGGGAGGATGGGGAGTGTGAGGGGTATCCTTGATGCTTGTGTGTCCCCAACTTTCCAAATCCCCGCCCCCGCGATGGAGAAGAAACCGAGACAGAAGGTGCAGGGCCCACTACCGCTTCCTCCAGATGAGCTCATGGGTTTCTCCACCAAGGAAGTTTTCCGCTGGTTGAATGATTCTTTCCCCGCCCTCCTCTCGCCCCAGGGACATATAAAGGCAGTTGTTGGCACACCCAGCCAGCAGACGCTCCCTCAGCAAGGACAGCAGAGGACCAGCTAAGAGGGAGAGAAGCAACTACAGACCCCCCCTGAAAACAACCCTCAGACGCCACATCCCCTGACAAGCTGCCAGGCAGGTTCTCTTCCTCTCACATACTGACCCACGGCTCCACCCTCTCTCCCCTGGAAAGGACACCATGAGCACTGAAAGCATGATCCGGGACGTGGAGCTGGCCGAGGAGGCGCTCCCCAAGAAGACAGGGGGGCCCCAGGGCTCCAGGCGGTGCTTGTTCCTCAGCCTCTTCTCCTTCCTGATCGTGGCAGGCGCCACCACGCTCTTCTGCCTGCTGCACTTTGGAGTGATCGGCCCCCAGAGGGAAGAGGTGAGTGCCTGGCCAGCCTTCATCCACTCTCCCACCCAAGGGGAAATGGAGACGCAAGAGAGGGAGAGAGATGGGATGGGTGAAAGATGTGCGCTGATAGGGAGGGATGGAGAGAAAAAAACGTGGAGAAAGACGGGGATGCAGAAAGAGATGTGGCAAGAGATGGGGAAGAGAGAGAGAGAAAGATGGAGAGACAGGATGTCTGGCACATGGAAGGTGCTCACTAAGTGTGTATGGAGTGAATGAATGAATGAATGAATGAACAAGCAGATATATAAATAAGATATGGAGACAGATGTGGGGTGTGAGAAGAGAGATGGGGGAAGAAACAAGTGATATGAATAAAGATGGTGAGACAGAAAGAGCGGGAAATATGACAGCTAAGGAGAGAGATGGGGGAGATAAGGAGAGAAGAAGATAGGGTGTCTGGCACACAGAAGACACTCAGGGAAAGAGCTGTTGAATGCCTGGAAGGTGAATACACAGATGAATGGAGAGAGAAAACCAGACACCTCAGGGCTAAGAGCGCAGGCCAGACAGGCAGCCAGCTGTTCCTCCTTTAAGGGTGACTCCCTCGATGTTAACCATTCTCCTTCTCCCCAACAGTTCCCCAGGGACCTCTCTCTAATCAGCCCTCTGGCCCAGGCAGTCAGTAAGTGTCTCCAAACCTCTTTCCTAATTCTGGGTTTGGGTTTGGGGGTAGGGTTAGTACCGGTATGGAAGCAGTGGGGGAAATTTAAAGTTTTGGTCTTGGGGGAGGATGGATGGAGGTGAAAGTAGGGGGGTATTTTCTAGGAAGTTTAAGGGTCTCAGCTTTTTCTTTTCTCTCTCCTCTTCAGGATCATCTTCTCGAACCCCGAGTGACAAGCCTGTAGCCCATGTTGTAGGTAAGAGCTCTGAGGATGTGTCTTGGAACTTGGAGGGCTAGGATTTGGGGATTGAAGCCCGGCTGATGGTAGGCAGAACTTGGAGACAATGTGAGAAGGACTCGCTGAGCTCAAGGGAAGGGTGGAGGAACAGCACAGGCCTTAGTGGGATACTCAGAACGTCATGGCCAGGTGGGATGTGGGATGACAGACAGAGAGGACAGGAACCGGATGTGGGGTGGGCAGAGCTCGAGGGCCAGGATGTGGAGAGTGAACCGACATGGCCACACTGACTCTCCTCTCCCTCTCTCCCTCCCTCCAGCAAACCCTCAAGCTGAGGGGCAGCTCCAGTGGCTGAACCGCTGGGCCAATGCCCTCCTGGCCAATGGCGTGGAGCTGAGAGATAACCAGCTGGTGGTGCCATCAGAGGGCCTGTACCTCATCTACTCCCAGGTCCTCTTCAAGGGCCAAGGCTGCCCCTCCACCCATGTGCTCCTCACCCACACCATCAGCCGCATCGCCGTCTCCTACCAGACCAAGGTCAACCTCCTCTCTGCCATCAAGAGCCCCTGCCAGAGGGAGACCCCAGAGGGGGCTGAGGCCAAGCCCTGGTATGAGCCCATCTATCTGGGAGGGGTCTTCCAGCTGGAGAAGGGTGACCGACTCAGCGCTGAGATCAATCGGCCCGACTATCTCGACTTTGCCGAGTCTGGGCAGGTCTACTTTGGGATCATTGCCCTGTGAGGAGGACGAACATCCAACCTTCCCAAACGCCTCCCCTGCCCCAATCCCTTTATTACCCCCTCCTTCAGACACCCTCAACCTCTTCTGGCTCAAAAAGAGAATTGGGGGCTTAGGGTCGGAACCCAAGCTTAGAACTTTAAGCAACAAGACCACCACTTCGAAACCTGGGATTCAGGAATGTGTGGCCTGCACAGTGAAGTGCTGGCAACCACTAAGAATTCAAACTGGGGCCTCCAGAACTCACTGGGGCCTACAGCTTTGATCCCTGACATCTGGAATCTGGAGACCAGGGAGCCTTTGGTTCTGGCCAGAATGCTGCAGGACTTGAGAAGACCTCACCTAGAAATTGACACAAGTGGACCTTAGGCCTTCCTCTCTCCAGATGTTTCCAGACTTCCTTGAGACACGGAGCCCAGCCCTCCCCATGGAGCCAGCTCCCTCTATTTATGTTTGCACTTGTGATTATTTATTATTTATTTATTATTTATTTATTTACAGATGAATGTATTTATTTGGGAGACCGGGGTATCCTGGGGGACCCAATGTAGGAGCTGCCTTGGCTCAGACATGTTTTCCGTGAAAACGGAGCTGAACAATAGGCTGTTCCCATGTAGCCCCCTGGCCTCTGTGCCTTCTTTTGATTATGTTTTTTAAAATATTTATCTGATTAAGTTGTCTAAACAATGCTGATTTGGTGACCAACTGTCACTCATTGCTGAGCCTCTGCTCCCCAGGGGAGTTGTGTCTGTAATCGCCCTACTATTCAGTGGCGAGAAATAAAGTTTGCTTAGAAAAGAAACATGGTCTCCTTCTTGGAATTAATTCTGCATCTGCCTCTTCTTGTGGGTGGGAAGAAGCTCCCTAAGTCCTCTCTCCACAGGCTTTAAGATCCCTCGGACCCAGTCCCATCCTTAGACTCCTAGGGCCCTGGAGACCCTACATAAACAAAGCCCAACAGAATATTCCCCATCCCCCAGGAAACAAGAGCCTGAACCTAATTACCTCTCCCTCAGGGCATGGGAATTTCCAACTCTGGGAATTCCAATCCTTGCTGGGAAAATCCTGCAGCTCAGGTGAGATTTCCGGCTGTTGCAGCTGGCCAGCAGTCCGGAGAGAGCTGGAGAGGAGCCGCATTCTCAGGTACCTGAATCACACAGCCAAGGGACTTCCAGAGATTCGGGTGTCTAGGCTTCAAATCACCCTGTCCTAACTCTGCAACCTGAACCAGCCACTTAACCTATCTATCCAATGGGGATAGGAATGTCCACCACACATAGGGCATGTGAGAGAAGGCCTGACCTCCATCAGAGGACCTCACTCAGCCCTTGGCACAGTGGGCACTTAGTGAATTCTGGCTTCCTTCAACCAGTTTCCAGCTGTTCTATCCCCTTCCATTCTCTCAGTGGGTGAAATCGAAGAGACTGAGGACAATAAAGAACAAGGAACCGAACTGCCGGACGTGGTGGCATGCACCTGTAATCCTACCACTTTGCAAGGCCAAGGTGAGAGGATCGCTTGAACCCAGGAGTTCCAGAGCAACCTGGGCAACATAGTGAGATCCTGTCTCTATTTTTTAAAAAAGAATGAAACATAGGAATAAGATGTGGGTGAAGGACTCACATGCCGGCTTGGTCCCACTGGTCTTTGTGGTGAAGGAGGGGAGAGGT
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Task1_train_10105
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A variant on Chromosome 6 in gene CSNK2B (casein kinase 2 beta) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; not provided
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CCAACAATAAACACCAGCCTCTTTCTGAAACCACTTTCCCACCCCGTAAGACATACCAGTAGGAAAAAAAAATCAGCCTGGCCCTTTAAGTCTTCCGCGATCCCATTTCGGAGTTTCCTCTTCCCAAACAAAAATAGATGGGTCACTCCCTAGAAGATCTCGGGGAGAGTCTCCTATACGTGTTGCTGTGTAGCTTCCGTACCGCAAAATGGCGCCATTCTAATCAGAAGAGTTGACACAATCAAATAGCCACACGGCACGAAGACGCATGCGTGGCGACAACAACAACAAAAACCACAACCCACATTACTTGAGGGCTCGGGCGTGCGCAAAGCTCCGGGTTCAGTTTCCCGCGCTGGAACTTTTTCAATAGTAAACGAGCAAAGCTCCGCGCGCCCAGGTGGCGCGAGCACTAGGATCTGTCGGTTGGGGTCCTACTTTTACATAACGCCCCCACAATGCCCTTCGCCTTCCTCAACGTGGCCCCCGCTCCAAGCCCATTTTCTGGAGCCAGGAATCCACTCTGTGGGTTAGGAAAGGCCCTCAGGAGGCGGAGGGAAACCTGTGGAATGCCGAGAAGCCGTGTAATGAAATAACGTCACGCCTGCCCCTCACCATTACTCTGACCAGGGTTCGAAGGTCACACTTAGAGCCTAAGGGGAAATGGAGAAGTGCAAAGGGACGAGCAGAATGGCTGGCACCACCTCAGGTTAGCGCACTGGGACGTTCCAGTTCTCACACCGCCCACCCCACCCCACCCAAGTCCCTACGCACGGAGCCAAGCCGCACCTCTCCCCTCATGAGGCAGGAGCCCGGAGGAAACAGTATGCCCGTCAAGGGTCTCTGGCGGGACTGATTCGCACTAGGGGCCCAACAGGCAATAAGGACCCAGCGGATTGGCCGAGGATAGGCCAGTCCCCTGGGCAGCAGCGCCGCGCCGGGACTAGAGGGGAACGTGAGGAGAGCTGCGGAAAGAGATCCAGCCTGGCTCCCTCCTTTCCCCGCCCTAAGTCAGCCTCTTCACCCAGTGAGCACAAAACTGTATTGCCCAGACTCCCGGGCCCCGAACGCCATACCTGGCTTCCGCTTCCGGTGGCTTCTCGTTGTGCCCCGCCCGCAAGCGCCCTCCTCCGGGCCTTCGTGACAGCCAGGTCGTGCGCGGGTCATCCTGGGATTGGTAGTTCGCTTTCTCTCATTTAGCCAGTTTCTTTCTCTACCGGGGACTCCGTGTCCCGGCATCCACCGCGGCACCTGACCCTTGGCGCTTGCGTGTTGCCCTCTTCCCCACCCTCCCTAATTTCCACTCCCCCCACCCCACTTCGCCTGCCGCGGTCGGGTCCGCGGCCTGCGCTGTAGCGGTCGCCGCCGTTCCCTGGAAGTAGCAACTTCCCTACCCCACCCCAGTCCTGGTCCCCGTCCAGCCGGTGAGTCTGAAGTCGTCGCTGCTCCGAGTCCCTTGTCGCTGGGAGCGGCACATGGGGTCTCCGGACTTTGATGTGGGGGCGGGGGAGGAAGCGACCAGGTCCGGCACGAAGGAGGGAGAGGTGGCCTGAGGAGCGGAGGGGGGATGTGTGGATTCCGGTGAAAGGGACCTGACAATCGCCCCCAACCCGTGAGAAAAGGAGGAGCCCAGTTCTTGCTTGAGAATGATAAACTTGGAAACCCTTGGGAAAGGCGTGGGGGTCATGCAGAGACTTGTATTGGTAGGGAGCCTGAGTCGAGGTCCCTGCCGGAGTTGACACAGAGGAGAGAGGGCCCTGGCCTTCGGGAGCTCCAGGGATGTGGGTCGGGCTGGTGGGTCAAAGTATCTGTTGGCTTCTTTCAAGTGGTGGGACCCCAAAGAATGTTTAACTTCAAAGAAAAGGGGCTGAGATGTAAATTAGAGGAGCTGGAGAGGAGTGCTTCAGAGTTTGGGTTGCTTTAAGAAAGGGTGGTTCCGAATTCTCCCGTGGTTGGAGGGCCGAATGTGGGAGGAGGGAGGATACCAGAGGCAGGGAAGGAGAACTTGAGCTTTACTGACACTGTTCTTTTTCTAGCTGACGTGAAGATGAGCAGCTCAGAGGAGGTGTCCTGGATTTCCTGGTTCTGTGGGCTCCGTGGCAATGAATTCTTCTGTGAAGTGAGTTCTCTTCAACCTCCCTACTTGCCAGCTTCACATATCTTCCCACCAGACGTTCCTTCACATATTCCACTTCTGCACTGTTCTCTTACATGCTATTTGAAAACTTCCTATCAGCAAAGAGTCCCCCCTATAAACCCCGACGAACCTGTGCTAAAGTGGCAAAACTGGGGCCCAAGTCCTGAGTCTGCCACCGTCCAGCAATATAACGTTGGGCTAGTCAATTTGTGTCTTTTTCTTTTTTTTGAGACTGGGTCTCACTCTGTCACCGAGGCTGGAGGGTAGTGGTGCGATCTCGGCTTACTGCCACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTCCAGCCTCCCAAGTAGCTGGGATTACAAGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATGTCTAAGAAAAAGATTGCTGTATCTACTTATCCTTAGAAAAGAAAAGCCAAAGCTTTTATGGGAGAGAGTGTAGGTGAACTAGGGAGAGACACAAGTACTTCTGCTGAGTTGGGAGTGAGAAACAAGCACAACAGATGCAGTTGTGTTGATGATAAGGCATCACTTAGAGCATTTTGCCCAGGTCAAAGATGAGGATTTTGATATGGGTTCCCTCTTGGCTTCCATGTCCTGACAGGTGGATGAAGACTACATCCAGGACAAATTTAATCTTACTGGACTCAATGAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTGGTGAGGCACCCTCAGGGTTGTTTTGTGTGTGTGCGTGCACTATTTTTCTCTTCAAATCTCTATTCACTTGCCTGAATTTTGAAATTTCCTTTGGTTCTCTGATTTCTTTAACCCCAAATTCATGCTTTATTTTGATCCTCCACCTGACTCTTGTCTAGTTTTGTGACGTATATCACTTGTTCTCATGTTTTCTAAATCCGCAATTCAGACCTATTCCAAAATGCGTTTCCTCATGGGTCTGGTTTGTTGTCTGTTTCTCCTGCTTTGCACCTTCCAGTCTAGAATTTCATCTTCTGCATTGACATTGTTGCAGTTATGTATTGAGGAGGGAGTTGGGAGGGAGAGCAAGGAGCAGAGGCTGAAAAGGTGTGAAGGGAAGGCAGAGCTGTCTTCGTTTGATGCAAGGGTCAGAAGCCCAGGTTTCTGGGTCCCATGCCCAGATGTTGGATGGGGTAAGGCCCAAAAGTAGGTGCTAGGCAAACTGAATAGCCCGCAGCCCCTGGATATGGGCAGGGCACCTAGGAAAGCTGAAAAACAAGTAGTTGCATTTGGCCGGGCTGTGTTTCAGATGAAGAACTGGAAGACAACCCCAACCAGAGTGACCTGATTGAGCAGGCAGCCGAGATGCTTTATGGATTGATCCACGCCCGCTACATCCTTACCAACCGTGGCATCGCCCAGATGGTGAGGCCTCTCTGCTCCTACCTGCCTCCTTCTGAGCAGTAAGAGACACAGGTTCCTGCAGCAAGAAGTCATGTTTAAGCCCTGTTTAAGGAAGCTAGCTGAGAAGAGGGGAAGAACCCCAGAACTTGGGCCTGGGAATTGAATTCTGATTGGGGGTCATCCTGAAGGGATTGTTTTCAGGGAGGGAGACAGACCTTGAATCAGAGAGTTGTGATAGACTGCCTCT
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CCAACAATAAACACCAGCCTCTTTCTGAAACCACTTTCCCACCCCGTAAGACATACCAGTAGGAAAAAAAAATCAGCCTGGCCCTTTAAGTCTTCCGCGATCCCATTTCGGAGTTTCCTCTTCCCAAACAAAAATAGATGGGTCACTCCCTAGAAGATCTCGGGGAGAGTCTCCTATACGTGTTGCTGTGTAGCTTCCGTACCGCAAAATGGCGCCATTCTAATCAGAAGAGTTGACACAATCAAATAGCCACACGGCACGAAGACGCATGCGTGGCGACAACAACAACAAAAACCACAACCCACATTACTTGAGGGCTCGGGCGTGCGCAAAGCTCCGGGTTCAGTTTCCCGCGCTGGAACTTTTTCAATAGTAAACGAGCAAAGCTCCGCGCGCCCAGGTGGCGCGAGCACTAGGATCTGTCGGTTGGGGTCCTACTTTTACATAACGCCCCCACAATGCCCTTCGCCTTCCTCAACGTGGCCCCCGCTCCAAGCCCATTTTCTGGAGCCAGGAATCCACTCTGTGGGTTAGGAAAGGCCCTCAGGAGGCGGAGGGAAACCTGTGGAATGCCGAGAAGCCGTGTAATGAAATAACGTCACGCCTGCCCCTCACCATTACTCTGACCAGGGTTCGAAGGTCACACTTAGAGCCTAAGGGGAAATGGAGAAGTGCAAAGGGACGAGCAGAATGGCTGGCACCACCTCAGGTTAGCGCACTGGGACGTTCCAGTTCTCACACCGCCCACCCCACCCCACCCAAGTCCCTACGCACGGAGCCAAGCCGCACCTCTCCCCTCATGAGGCAGGAGCCCGGAGGAAACAGTATGCCCGTCAAGGGTCTCTGGCGGGACTGATTCGCACTAGGGGCCCAACAGGCAATAAGGACCCAGCGGATTGGCCGAGGATAGGCCAGTCCCCTGGGCAGCAGCGCCGCGCCGGGACTAGAGGGGAACGTGAGGAGAGCTGCGGAAAGAGATCCAGCCTGGCTCCCTCCTTTCCCCGCCCTAAGTCAGCCTCTTCACCCAGTGAGCACAAAACTGTATTGCCCAGACTCCCGGGCCCCGAACGCCATACCTGGCTTCCGCTTCCGGTGGCTTCTCGTTGTGCCCCGCCCGCAAGCGCCCTCCTCCGGGCCTTCGTGACAGCCAGGTCGTGCGCGGGTCATCCTGGGATTGGTAGTTCGCTTTCTCTCATTTAGCCAGTTTCTTTCTCTACCGGGGACTCCGTGTCCCGGCATCCACCGCGGCACCTGACCCTTGGCGCTTGCGTGTTGCCCTCTTCCCCACCCTCCCTAATTTCCACTCCCCCCACCCCACTTCGCCTGCCGCGGTCGGGTCCGCGGCCTGCGCTGTAGCGGTCGCCGCCGTTCCCTGGAAGTAGCAACTTCCCTACCCCACCCCAGTCCTGGTCCCCGTCCAGCCGGTGAGTCTGAAGTCGTCGCTGCTCCGAGTCCCTTGTCGCTGGGAGCGGCACATGGGGTCTCCGGACTTTGATGTGGGGGCGGGGGAGGAAGCGACCAGGTCCGGCACGAAGGAGGGAGAGGTGGCCTGAGGAGCGGAGGGGGGATGTGTGGATTCCGGTGAAAGGGACCTGACAATCGCCCCCAACCCGTGAGAAAAGGAGGAGCCCAGTTCTTGCTTGAGAATGATAAACTTGGAAACCCTTGGGAAAGGCGTGGGGGTCATGCAGAGACTTGTATTGGTAGGGAGCCTGAGTCGAGGTCCCTGCCGGAGTTGACACAGAGGAGAGAGGGCCCTGGCCTTCGGGAGCTCCAGGGATGTGGGTCGGGCTGGTGGGTCAAAGTATCTGTTGGCTTCTTTCAAGTGGTGGGACCCCAAAGAATGTTTAACTTCAAAGAAAAGGGGCTGAGATGTAAATTAGAGGAGCTGGAGAGGAGTGCTTCAGAGTTTGGGTTGCTTTAAGAAAGGGTGGTTCCGAATTCTCCCGTGGTTGGAGGGCCGAATGTGGGAGGAGGGAGGATACCAGAGGCAGGGAAGGAGAACTTGAGCTTTACTGACACTGTTCTTTTTCTAGCTGACGTGAAGAGGAGCAGCTCAGAGGAGGTGTCCTGGATTTCCTGGTTCTGTGGGCTCCGTGGCAATGAATTCTTCTGTGAAGTGAGTTCTCTTCAACCTCCCTACTTGCCAGCTTCACATATCTTCCCACCAGACGTTCCTTCACATATTCCACTTCTGCACTGTTCTCTTACATGCTATTTGAAAACTTCCTATCAGCAAAGAGTCCCCCCTATAAACCCCGACGAACCTGTGCTAAAGTGGCAAAACTGGGGCCCAAGTCCTGAGTCTGCCACCGTCCAGCAATATAACGTTGGGCTAGTCAATTTGTGTCTTTTTCTTTTTTTTGAGACTGGGTCTCACTCTGTCACCGAGGCTGGAGGGTAGTGGTGCGATCTCGGCTTACTGCCACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTCCAGCCTCCCAAGTAGCTGGGATTACAAGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATGTCTAAGAAAAAGATTGCTGTATCTACTTATCCTTAGAAAAGAAAAGCCAAAGCTTTTATGGGAGAGAGTGTAGGTGAACTAGGGAGAGACACAAGTACTTCTGCTGAGTTGGGAGTGAGAAACAAGCACAACAGATGCAGTTGTGTTGATGATAAGGCATCACTTAGAGCATTTTGCCCAGGTCAAAGATGAGGATTTTGATATGGGTTCCCTCTTGGCTTCCATGTCCTGACAGGTGGATGAAGACTACATCCAGGACAAATTTAATCTTACTGGACTCAATGAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTGGTGAGGCACCCTCAGGGTTGTTTTGTGTGTGTGCGTGCACTATTTTTCTCTTCAAATCTCTATTCACTTGCCTGAATTTTGAAATTTCCTTTGGTTCTCTGATTTCTTTAACCCCAAATTCATGCTTTATTTTGATCCTCCACCTGACTCTTGTCTAGTTTTGTGACGTATATCACTTGTTCTCATGTTTTCTAAATCCGCAATTCAGACCTATTCCAAAATGCGTTTCCTCATGGGTCTGGTTTGTTGTCTGTTTCTCCTGCTTTGCACCTTCCAGTCTAGAATTTCATCTTCTGCATTGACATTGTTGCAGTTATGTATTGAGGAGGGAGTTGGGAGGGAGAGCAAGGAGCAGAGGCTGAAAAGGTGTGAAGGGAAGGCAGAGCTGTCTTCGTTTGATGCAAGGGTCAGAAGCCCAGGTTTCTGGGTCCCATGCCCAGATGTTGGATGGGGTAAGGCCCAAAAGTAGGTGCTAGGCAAACTGAATAGCCCGCAGCCCCTGGATATGGGCAGGGCACCTAGGAAAGCTGAAAAACAAGTAGTTGCATTTGGCCGGGCTGTGTTTCAGATGAAGAACTGGAAGACAACCCCAACCAGAGTGACCTGATTGAGCAGGCAGCCGAGATGCTTTATGGATTGATCCACGCCCGCTACATCCTTACCAACCGTGGCATCGCCCAGATGGTGAGGCCTCTCTGCTCCTACCTGCCTCCTTCTGAGCAGTAAGAGACACAGGTTCCTGCAGCAAGAAGTCATGTTTAAGCCCTGTTTAAGGAAGCTAGCTGAGAAGAGGGGAAGAACCCCAGAACTTGGGCCTGGGAATTGAATTCTGATTGGGGGTCATCCTGAAGGGATTGTTTTCAGGGAGGGAGACAGACCTTGAATCAGAGAGTTGTGATAGACTGCCTCT
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Task1_train_10106
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A genetic alteration is present in CSNK2B (casein kinase 2 beta) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Poirier-Bienvenu neurodevelopmental syndrome
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CCGGGCCCCGAACGCCATACCTGGCTTCCGCTTCCGGTGGCTTCTCGTTGTGCCCCGCCCGCAAGCGCCCTCCTCCGGGCCTTCGTGACAGCCAGGTCGTGCGCGGGTCATCCTGGGATTGGTAGTTCGCTTTCTCTCATTTAGCCAGTTTCTTTCTCTACCGGGGACTCCGTGTCCCGGCATCCACCGCGGCACCTGACCCTTGGCGCTTGCGTGTTGCCCTCTTCCCCACCCTCCCTAATTTCCACTCCCCCCACCCCACTTCGCCTGCCGCGGTCGGGTCCGCGGCCTGCGCTGTAGCGGTCGCCGCCGTTCCCTGGAAGTAGCAACTTCCCTACCCCACCCCAGTCCTGGTCCCCGTCCAGCCGGTGAGTCTGAAGTCGTCGCTGCTCCGAGTCCCTTGTCGCTGGGAGCGGCACATGGGGTCTCCGGACTTTGATGTGGGGGCGGGGGAGGAAGCGACCAGGTCCGGCACGAAGGAGGGAGAGGTGGCCTGAGGAGCGGAGGGGGGATGTGTGGATTCCGGTGAAAGGGACCTGACAATCGCCCCCAACCCGTGAGAAAAGGAGGAGCCCAGTTCTTGCTTGAGAATGATAAACTTGGAAACCCTTGGGAAAGGCGTGGGGGTCATGCAGAGACTTGTATTGGTAGGGAGCCTGAGTCGAGGTCCCTGCCGGAGTTGACACAGAGGAGAGAGGGCCCTGGCCTTCGGGAGCTCCAGGGATGTGGGTCGGGCTGGTGGGTCAAAGTATCTGTTGGCTTCTTTCAAGTGGTGGGACCCCAAAGAATGTTTAACTTCAAAGAAAAGGGGCTGAGATGTAAATTAGAGGAGCTGGAGAGGAGTGCTTCAGAGTTTGGGTTGCTTTAAGAAAGGGTGGTTCCGAATTCTCCCGTGGTTGGAGGGCCGAATGTGGGAGGAGGGAGGATACCAGAGGCAGGGAAGGAGAACTTGAGCTTTACTGACACTGTTCTTTTTCTAGCTGACGTGAAGATGAGCAGCTCAGAGGAGGTGTCCTGGATTTCCTGGTTCTGTGGGCTCCGTGGCAATGAATTCTTCTGTGAAGTGAGTTCTCTTCAACCTCCCTACTTGCCAGCTTCACATATCTTCCCACCAGACGTTCCTTCACATATTCCACTTCTGCACTGTTCTCTTACATGCTATTTGAAAACTTCCTATCAGCAAAGAGTCCCCCCTATAAACCCCGACGAACCTGTGCTAAAGTGGCAAAACTGGGGCCCAAGTCCTGAGTCTGCCACCGTCCAGCAATATAACGTTGGGCTAGTCAATTTGTGTCTTTTTCTTTTTTTTGAGACTGGGTCTCACTCTGTCACCGAGGCTGGAGGGTAGTGGTGCGATCTCGGCTTACTGCCACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTCCAGCCTCCCAAGTAGCTGGGATTACAAGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATGTCTAAGAAAAAGATTGCTGTATCTACTTATCCTTAGAAAAGAAAAGCCAAAGCTTTTATGGGAGAGAGTGTAGGTGAACTAGGGAGAGACACAAGTACTTCTGCTGAGTTGGGAGTGAGAAACAAGCACAACAGATGCAGTTGTGTTGATGATAAGGCATCACTTAGAGCATTTTGCCCAGGTCAAAGATGAGGATTTTGATATGGGTTCCCTCTTGGCTTCCATGTCCTGACAGGTGGATGAAGACTACATCCAGGACAAATTTAATCTTACTGGACTCAATGAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTGGTGAGGCACCCTCAGGGTTGTTTTGTGTGTGTGCGTGCACTATTTTTCTCTTCAAATCTCTATTCACTTGCCTGAATTTTGAAATTTCCTTTGGTTCTCTGATTTCTTTAACCCCAAATTCATGCTTTATTTTGATCCTCCACCTGACTCTTGTCTAGTTTTGTGACGTATATCACTTGTTCTCATGTTTTCTAAATCCGCAATTCAGACCTATTCCAAAATGCGTTTCCTCATGGGTCTGGTTTGTTGTCTGTTTCTCCTGCTTTGCACCTTCCAGTCTAGAATTTCATCTTCTGCATTGACATTGTTGCAGTTATGTATTGAGGAGGGAGTTGGGAGGGAGAGCAAGGAGCAGAGGCTGAAAAGGTGTGAAGGGAAGGCAGAGCTGTCTTCGTTTGATGCAAGGGTCAGAAGCCCAGGTTTCTGGGTCCCATGCCCAGATGTTGGATGGGGTAAGGCCCAAAAGTAGGTGCTAGGCAAACTGAATAGCCCGCAGCCCCTGGATATGGGCAGGGCACCTAGGAAAGCTGAAAAACAAGTAGTTGCATTTGGCCGGGCTGTGTTTCAGATGAAGAACTGGAAGACAACCCCAACCAGAGTGACCTGATTGAGCAGGCAGCCGAGATGCTTTATGGATTGATCCACGCCCGCTACATCCTTACCAACCGTGGCATCGCCCAGATGGTGAGGCCTCTCTGCTCCTACCTGCCTCCTTCTGAGCAGTAAGAGACACAGGTTCCTGCAGCAAGAAGTCATGTTTAAGCCCTGTTTAAGGAAGCTAGCTGAGAAGAGGGGAAGAACCCCAGAACTTGGGCCTGGGAATTGAATTCTGATTGGGGGTCATCCTGAAGGGATTGTTTTCAGGGAGGGAGACAGACCTTGAATCAGAGAGTTGTGATAGACTGCCTCTTCCTCAAGGAACAAACAACAAATGGCTCTGATGGTTTGTAGCCTGCCTAATTGGAAGAAAGGCAACACAGAAGTTTGAGAGCCCATCTAGTCCAGAGAAGGGGCCTCTGGACAGAGGTGGGAGGAGTGGGGGACAGAGTGGTATGGGTTGGGCTGCGAAGGGAGTTGCCTCTTCTTTACATCTACCTGCCAACCCCTTCCATTGTATTCACCTCAGTTGGAAAAGTACCAGCAAGGAGACTTTGGTTACTGTCCTCGTGTGTACTGTGAGAACCAGCCAATGCTTCCCATTGGTGAGTGTTGAAGAAGGGAAAGGAAAGCACCGTGTGGCAGTCTTATGGGAAGGAGTTGGGGCTCAACACATTGGAGCCTGAGTCCTGAGGGGAGGTTAGGTAGGAATAGGGGGATACCTGGCCTGCTGAGTCTGGCTGTCTCCCAGGCCTTTCAGACATCCCAGGTGAAGCCATGGTGAAGCTCTACTGCCCCAAGTGCATGGATGTGTACACACCCAAGTCATCAAGACACCATCACACGGATGGCGCCTACTTCGGCACTGGTTTCCCTCACATGCTCTTCATGGTGCATCCCGAGTACCGGCCCAAGAGACCTGCCAACCAGTTTGTGCCCAGGTAGGGAGCAGGGAGAGTCATTAAGGGTCAAAGGAAAGGCCCAAGATCCCCCAGAGAGGGGAGGACAGGGCATGGCCCTTTCTTGAGGTCTGCTTCTCCCAGAATCAGGGCATCTCCCTGCTGAGTGACTGTGGGAAAGTTATTTGATTATCTGTGCTTGAGTTACCTTATTGTAGAATGTTCTTGAGCTGAGAAGTTGGGAACCACGAGGCTTTAGCTCTGAGCAGGTCCATAGAGGAGCTCAGGTGGGGAGGTGGGAATGCAGGTGACTGGCAGGGCCTGGATGGGGCTCATGCTGCTGCCTCTCTGACCTCTGCCCTGGCCTAGGCTCTACGGTTTCAAGATCCATCCGATGGCCTACCAGCTGCAGCTCCAAGCCGCCAGCAACTTCAAGAGCCCAGTCAAGACGATTCGCTGATTCCCTCCCC
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CCGGGCCCCGAACGCCATACCTGGCTTCCGCTTCCGGTGGCTTCTCGTTGTGCCCCGCCCGCAAGCGCCCTCCTCCGGGCCTTCGTGACAGCCAGGTCGTGCGCGGGTCATCCTGGGATTGGTAGTTCGCTTTCTCTCATTTAGCCAGTTTCTTTCTCTACCGGGGACTCCGTGTCCCGGCATCCACCGCGGCACCTGACCCTTGGCGCTTGCGTGTTGCCCTCTTCCCCACCCTCCCTAATTTCCACTCCCCCCACCCCACTTCGCCTGCCGCGGTCGGGTCCGCGGCCTGCGCTGTAGCGGTCGCCGCCGTTCCCTGGAAGTAGCAACTTCCCTACCCCACCCCAGTCCTGGTCCCCGTCCAGCCGGTGAGTCTGAAGTCGTCGCTGCTCCGAGTCCCTTGTCGCTGGGAGCGGCACATGGGGTCTCCGGACTTTGATGTGGGGGCGGGGGAGGAAGCGACCAGGTCCGGCACGAAGGAGGGAGAGGTGGCCTGAGGAGCGGAGGGGGGATGTGTGGATTCCGGTGAAAGGGACCTGACAATCGCCCCCAACCCGTGAGAAAAGGAGGAGCCCAGTTCTTGCTTGAGAATGATAAACTTGGAAACCCTTGGGAAAGGCGTGGGGGTCATGCAGAGACTTGTATTGGTAGGGAGCCTGAGTCGAGGTCCCTGCCGGAGTTGACACAGAGGAGAGAGGGCCCTGGCCTTCGGGAGCTCCAGGGATGTGGGTCGGGCTGGTGGGTCAAAGTATCTGTTGGCTTCTTTCAAGTGGTGGGACCCCAAAGAATGTTTAACTTCAAAGAAAAGGGGCTGAGATGTAAATTAGAGGAGCTGGAGAGGAGTGCTTCAGAGTTTGGGTTGCTTTAAGAAAGGGTGGTTCCGAATTCTCCCGTGGTTGGAGGGCCGAATGTGGGAGGAGGGAGGATACCAGAGGCAGGGAAGGAGAACTTGAGCTTTACTGACACTGTTCTTTTTCTAGCTGACGTGAAGATGAGCAGCTCAGAGGAGGTGTCCTGGATTTCCTGGTTCTGTGGGCTCCGTGGCAATGAATTCTTCTGTGAAGTGAGTTCTCTTCAACCTCCCTACTTGCCAGCTTCACATATCTTCCCACCAGACGTTCCTTCACATATTCCACTTCTGCACTGTTCTCTTACATGCTATTTGAAAACTTCCTATCAGCAAAGAGTCCCCCCTATAAACCCCGACGAACCTGTGCTAAAGTGGCAAAACTGGGGCCCAAGTCCTGAGTCTGCCACCGTCCAGCAATATAACGTTGGGCTAGTCAATTTGTGTCTTTTTCTTTTTTTTGAGACTGGGTCTCACTCTGTCACCGAGGCTGGAGGGTAGTGGTGCGATCTCGGCTTACTGCCACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTCCAGCCTCCCAAGTAGCTGGGATTACAAGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATGTCTAAGAAAAAGATTGCTGTATCTACTTATCCTTAGAAAAGAAAAGCCAAAGCTTTTATGGGAGAGAGTGTAGGTGAACTAGGGAGAGACACAAGTACTTCTGCTGAGTTGGGAGTGAGAAACAAGCACAACAGATGCAGTTGTGTTGATGATAAGGCATCACTTAGAGCATTTTGCCCAGGTCAAAGATGAGGATTTTGATATGGGTTCCCTCTTGGCTTCCATGTCCTGACAGGTGGATGAAGACTACATCCAGTACAAATTTAATCTTACTGGACTCAATGAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTGGTGAGGCACCCTCAGGGTTGTTTTGTGTGTGTGCGTGCACTATTTTTCTCTTCAAATCTCTATTCACTTGCCTGAATTTTGAAATTTCCTTTGGTTCTCTGATTTCTTTAACCCCAAATTCATGCTTTATTTTGATCCTCCACCTGACTCTTGTCTAGTTTTGTGACGTATATCACTTGTTCTCATGTTTTCTAAATCCGCAATTCAGACCTATTCCAAAATGCGTTTCCTCATGGGTCTGGTTTGTTGTCTGTTTCTCCTGCTTTGCACCTTCCAGTCTAGAATTTCATCTTCTGCATTGACATTGTTGCAGTTATGTATTGAGGAGGGAGTTGGGAGGGAGAGCAAGGAGCAGAGGCTGAAAAGGTGTGAAGGGAAGGCAGAGCTGTCTTCGTTTGATGCAAGGGTCAGAAGCCCAGGTTTCTGGGTCCCATGCCCAGATGTTGGATGGGGTAAGGCCCAAAAGTAGGTGCTAGGCAAACTGAATAGCCCGCAGCCCCTGGATATGGGCAGGGCACCTAGGAAAGCTGAAAAACAAGTAGTTGCATTTGGCCGGGCTGTGTTTCAGATGAAGAACTGGAAGACAACCCCAACCAGAGTGACCTGATTGAGCAGGCAGCCGAGATGCTTTATGGATTGATCCACGCCCGCTACATCCTTACCAACCGTGGCATCGCCCAGATGGTGAGGCCTCTCTGCTCCTACCTGCCTCCTTCTGAGCAGTAAGAGACACAGGTTCCTGCAGCAAGAAGTCATGTTTAAGCCCTGTTTAAGGAAGCTAGCTGAGAAGAGGGGAAGAACCCCAGAACTTGGGCCTGGGAATTGAATTCTGATTGGGGGTCATCCTGAAGGGATTGTTTTCAGGGAGGGAGACAGACCTTGAATCAGAGAGTTGTGATAGACTGCCTCTTCCTCAAGGAACAAACAACAAATGGCTCTGATGGTTTGTAGCCTGCCTAATTGGAAGAAAGGCAACACAGAAGTTTGAGAGCCCATCTAGTCCAGAGAAGGGGCCTCTGGACAGAGGTGGGAGGAGTGGGGGACAGAGTGGTATGGGTTGGGCTGCGAAGGGAGTTGCCTCTTCTTTACATCTACCTGCCAACCCCTTCCATTGTATTCACCTCAGTTGGAAAAGTACCAGCAAGGAGACTTTGGTTACTGTCCTCGTGTGTACTGTGAGAACCAGCCAATGCTTCCCATTGGTGAGTGTTGAAGAAGGGAAAGGAAAGCACCGTGTGGCAGTCTTATGGGAAGGAGTTGGGGCTCAACACATTGGAGCCTGAGTCCTGAGGGGAGGTTAGGTAGGAATAGGGGGATACCTGGCCTGCTGAGTCTGGCTGTCTCCCAGGCCTTTCAGACATCCCAGGTGAAGCCATGGTGAAGCTCTACTGCCCCAAGTGCATGGATGTGTACACACCCAAGTCATCAAGACACCATCACACGGATGGCGCCTACTTCGGCACTGGTTTCCCTCACATGCTCTTCATGGTGCATCCCGAGTACCGGCCCAAGAGACCTGCCAACCAGTTTGTGCCCAGGTAGGGAGCAGGGAGAGTCATTAAGGGTCAAAGGAAAGGCCCAAGATCCCCCAGAGAGGGGAGGACAGGGCATGGCCCTTTCTTGAGGTCTGCTTCTCCCAGAATCAGGGCATCTCCCTGCTGAGTGACTGTGGGAAAGTTATTTGATTATCTGTGCTTGAGTTACCTTATTGTAGAATGTTCTTGAGCTGAGAAGTTGGGAACCACGAGGCTTTAGCTCTGAGCAGGTCCATAGAGGAGCTCAGGTGGGGAGGTGGGAATGCAGGTGACTGGCAGGGCCTGGATGGGGCTCATGCTGCTGCCTCTCTGACCTCTGCCCTGGCCTAGGCTCTACGGTTTCAAGATCCATCCGATGGCCTACCAGCTGCAGCTCCAAGCCGCCAGCAACTTCAAGAGCCCAGTCAAGACGATTCGCTGATTCCCTCCCC
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Task1_train_10107
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This variant affects the gene CSNK2B (casein kinase 2 beta) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; not provided
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GGCCTTCGGGAGCTCCAGGGATGTGGGTCGGGCTGGTGGGTCAAAGTATCTGTTGGCTTCTTTCAAGTGGTGGGACCCCAAAGAATGTTTAACTTCAAAGAAAAGGGGCTGAGATGTAAATTAGAGGAGCTGGAGAGGAGTGCTTCAGAGTTTGGGTTGCTTTAAGAAAGGGTGGTTCCGAATTCTCCCGTGGTTGGAGGGCCGAATGTGGGAGGAGGGAGGATACCAGAGGCAGGGAAGGAGAACTTGAGCTTTACTGACACTGTTCTTTTTCTAGCTGACGTGAAGATGAGCAGCTCAGAGGAGGTGTCCTGGATTTCCTGGTTCTGTGGGCTCCGTGGCAATGAATTCTTCTGTGAAGTGAGTTCTCTTCAACCTCCCTACTTGCCAGCTTCACATATCTTCCCACCAGACGTTCCTTCACATATTCCACTTCTGCACTGTTCTCTTACATGCTATTTGAAAACTTCCTATCAGCAAAGAGTCCCCCCTATAAACCCCGACGAACCTGTGCTAAAGTGGCAAAACTGGGGCCCAAGTCCTGAGTCTGCCACCGTCCAGCAATATAACGTTGGGCTAGTCAATTTGTGTCTTTTTCTTTTTTTTGAGACTGGGTCTCACTCTGTCACCGAGGCTGGAGGGTAGTGGTGCGATCTCGGCTTACTGCCACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTCCAGCCTCCCAAGTAGCTGGGATTACAAGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATGTCTAAGAAAAAGATTGCTGTATCTACTTATCCTTAGAAAAGAAAAGCCAAAGCTTTTATGGGAGAGAGTGTAGGTGAACTAGGGAGAGACACAAGTACTTCTGCTGAGTTGGGAGTGAGAAACAAGCACAACAGATGCAGTTGTGTTGATGATAAGGCATCACTTAGAGCATTTTGCCCAGGTCAAAGATGAGGATTTTGATATGGGTTCCCTCTTGGCTTCCATGTCCTGACAGGTGGATGAAGACTACATCCAGGACAAATTTAATCTTACTGGACTCAATGAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTGGTGAGGCACCCTCAGGGTTGTTTTGTGTGTGTGCGTGCACTATTTTTCTCTTCAAATCTCTATTCACTTGCCTGAATTTTGAAATTTCCTTTGGTTCTCTGATTTCTTTAACCCCAAATTCATGCTTTATTTTGATCCTCCACCTGACTCTTGTCTAGTTTTGTGACGTATATCACTTGTTCTCATGTTTTCTAAATCCGCAATTCAGACCTATTCCAAAATGCGTTTCCTCATGGGTCTGGTTTGTTGTCTGTTTCTCCTGCTTTGCACCTTCCAGTCTAGAATTTCATCTTCTGCATTGACATTGTTGCAGTTATGTATTGAGGAGGGAGTTGGGAGGGAGAGCAAGGAGCAGAGGCTGAAAAGGTGTGAAGGGAAGGCAGAGCTGTCTTCGTTTGATGCAAGGGTCAGAAGCCCAGGTTTCTGGGTCCCATGCCCAGATGTTGGATGGGGTAAGGCCCAAAAGTAGGTGCTAGGCAAACTGAATAGCCCGCAGCCCCTGGATATGGGCAGGGCACCTAGGAAAGCTGAAAAACAAGTAGTTGCATTTGGCCGGGCTGTGTTTCAGATGAAGAACTGGAAGACAACCCCAACCAGAGTGACCTGATTGAGCAGGCAGCCGAGATGCTTTATGGATTGATCCACGCCCGCTACATCCTTACCAACCGTGGCATCGCCCAGATGGTGAGGCCTCTCTGCTCCTACCTGCCTCCTTCTGAGCAGTAAGAGACACAGGTTCCTGCAGCAAGAAGTCATGTTTAAGCCCTGTTTAAGGAAGCTAGCTGAGAAGAGGGGAAGAACCCCAGAACTTGGGCCTGGGAATTGAATTCTGATTGGGGGTCATCCTGAAGGGATTGTTTTCAGGGAGGGAGACAGACCTTGAATCAGAGAGTTGTGATAGACTGCCTCTTCCTCAAGGAACAAACAACAAATGGCTCTGATGGTTTGTAGCCTGCCTAATTGGAAGAAAGGCAACACAGAAGTTTGAGAGCCCATCTAGTCCAGAGAAGGGGCCTCTGGACAGAGGTGGGAGGAGTGGGGGACAGAGTGGTATGGGTTGGGCTGCGAAGGGAGTTGCCTCTTCTTTACATCTACCTGCCAACCCCTTCCATTGTATTCACCTCAGTTGGAAAAGTACCAGCAAGGAGACTTTGGTTACTGTCCTCGTGTGTACTGTGAGAACCAGCCAATGCTTCCCATTGGTGAGTGTTGAAGAAGGGAAAGGAAAGCACCGTGTGGCAGTCTTATGGGAAGGAGTTGGGGCTCAACACATTGGAGCCTGAGTCCTGAGGGGAGGTTAGGTAGGAATAGGGGGATACCTGGCCTGCTGAGTCTGGCTGTCTCCCAGGCCTTTCAGACATCCCAGGTGAAGCCATGGTGAAGCTCTACTGCCCCAAGTGCATGGATGTGTACACACCCAAGTCATCAAGACACCATCACACGGATGGCGCCTACTTCGGCACTGGTTTCCCTCACATGCTCTTCATGGTGCATCCCGAGTACCGGCCCAAGAGACCTGCCAACCAGTTTGTGCCCAGGTAGGGAGCAGGGAGAGTCATTAAGGGTCAAAGGAAAGGCCCAAGATCCCCCAGAGAGGGGAGGACAGGGCATGGCCCTTTCTTGAGGTCTGCTTCTCCCAGAATCAGGGCATCTCCCTGCTGAGTGACTGTGGGAAAGTTATTTGATTATCTGTGCTTGAGTTACCTTATTGTAGAATGTTCTTGAGCTGAGAAGTTGGGAACCACGAGGCTTTAGCTCTGAGCAGGTCCATAGAGGAGCTCAGGTGGGGAGGTGGGAATGCAGGTGACTGGCAGGGCCTGGATGGGGCTCATGCTGCTGCCTCTCTGACCTCTGCCCTGGCCTAGGCTCTACGGTTTCAAGATCCATCCGATGGCCTACCAGCTGCAGCTCCAAGCCGCCAGCAACTTCAAGAGCCCAGTCAAGACGATTCGCTGATTCCCTCCCCCACCTGTCCTGCAGTCTTTGACTTTTCCTTTCTTTTTTGCCACCCTTTCAGGAACCCTGTATGGTTTTTAGTTTAAATTAAAGGAGTCGTTATCGTGGTGGGAATATGAAATAAAGTAGAAGAAAAGGCCATGAGCTAGTCTGCTGGTGCTTGCTGTTGGGGAAGGGAAGGTGATGGTGTGTTGGACTCCAGGGGCCCTCATGGCCCAGCCCACCCTCCCCAGATTGAAAACCAGGACAGATTTGTGCTCAGTGGATTGGGTGGTGTTTTTAGTATGGAGCAGAACAGAATTCCTAGGACTGCGTGTGATGAAATGCAAGGTCAAAAGGAAAAGACAAAGCATATTTCAAAGATGAGAAATATTTGTTTGGATATCTATGACTGTCTGTTTATACTGTAAGGGGCTTAATCAGCAGCTCCATCTTTTAGTTTTAGTTCTAAAGGAAAAGTAGCCTAAAGTCAGTATAACTAAAGGGTGGAACGAGGTGGGACAAGGTCCGGAATTGCTGCTCAGTGATGTGTGTGTGCCTGCCGCTGGTGGAGCTGAGACTGCTCATCTCAGAAGGATGGGGATGCTTGATTTCCTGGCCAGGTTGTCCCAGCACAGTGGGGATTGGCCCTGTTGTATGACGAAGACAGCACATGGTGGCAGAGATAGATACTAACCCATGGACTTTCCAAGGGAGGGAATAGGTCTTTGGAG
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GGCCTTCGGGAGCTCCAGGGATGTGGGTCGGGCTGGTGGGTCAAAGTATCTGTTGGCTTCTTTCAAGTGGTGGGACCCCAAAGAATGTTTAACTTCAAAGAAAAGGGGCTGAGATGTAAATTAGAGGAGCTGGAGAGGAGTGCTTCAGAGTTTGGGTTGCTTTAAGAAAGGGTGGTTCCGAATTCTCCCGTGGTTGGAGGGCCGAATGTGGGAGGAGGGAGGATACCAGAGGCAGGGAAGGAGAACTTGAGCTTTACTGACACTGTTCTTTTTCTAGCTGACGTGAAGATGAGCAGCTCAGAGGAGGTGTCCTGGATTTCCTGGTTCTGTGGGCTCCGTGGCAATGAATTCTTCTGTGAAGTGAGTTCTCTTCAACCTCCCTACTTGCCAGCTTCACATATCTTCCCACCAGACGTTCCTTCACATATTCCACTTCTGCACTGTTCTCTTACATGCTATTTGAAAACTTCCTATCAGCAAAGAGTCCCCCCTATAAACCCCGACGAACCTGTGCTAAAGTGGCAAAACTGGGGCCCAAGTCCTGAGTCTGCCACCGTCCAGCAATATAACGTTGGGCTAGTCAATTTGTGTCTTTTTCTTTTTTTTGAGACTGGGTCTCACTCTGTCACCGAGGCTGGAGGGTAGTGGTGCGATCTCGGCTTACTGCCACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTCCAGCCTCCCAAGTAGCTGGGATTACAAGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATGTCTAAGAAAAAGATTGCTGTATCTACTTATCCTTAGAAAAGAAAAGCCAAAGCTTTTATGGGAGAGAGTGTAGGTGAACTAGGGAGAGACACAAGTACTTCTGCTGAGTTGGGAGTGAGAAACAAGCACAACAGATGCAGTTGTGTTGATGATAAGGCATCACTTAGAGCATTTTGCCCAGGTCAAAGATGAGGATTTTGATATGGGTTCCCTCTTGGCTTCCATGTCCTGACAGGTGGATGAAGACTACATCCAGGACAAATTTAATCTTACTGGACTCAATGAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTGGTGAGGCACCCTCAGGGTTGTTTTGTGTGTGTGCGTGCACTATTTTTCTCTTCAAATCTCTATTCACTTGCCTGAATTTTGAAATTTCCTTTGGTTCTCTGATTTCTTTAACCCCAAATTCATGCTTTATTTTGATCCTCCACCTGACTCTTGTCTAGTTTTGTGACGTATATCACTTGTTCTCATGTTTTCTAAATCCGCAATTCAGACCTATTCCAAAATGCGTTTCCTCATGGGTCTGGTTTGTTGTCTGTTTCTCCTGCTTTGCACCTTCCAGTCTAGAATTTCATCTTCTGCATTGACATTGTTGCAGTTATGTATTGAGGAGGGAGTTGGGAGGGAGAGCAAGGAGCAGAGGCTGAAAAGGTGTGAAGGGAAGGCAGAGCTGTCTTCGTTTGATGCAAGGGTCAGAAGCCCAGGTTTCTGGGTCCCATGCCCAGATGTTGGATGGGGTAAGGCCCAAAAGTAGGTGCTAGGCAAACTGAATAGCCCGCAGCCCCTGGATATGGGCAGGGCACCTAGGAAAGCTGAAAAACAAGTAGTTGCATTTGGCCGGGCTGTGTTTCAGATGAAGAACTGGAAGACAACCCCAACCAGAGTGACCTGATTGAGCAGGCAGCCAAGATGCTTTATGGATTGATCCACGCCCGCTACATCCTTACCAACCGTGGCATCGCCCAGATGGTGAGGCCTCTCTGCTCCTACCTGCCTCCTTCTGAGCAGTAAGAGACACAGGTTCCTGCAGCAAGAAGTCATGTTTAAGCCCTGTTTAAGGAAGCTAGCTGAGAAGAGGGGAAGAACCCCAGAACTTGGGCCTGGGAATTGAATTCTGATTGGGGGTCATCCTGAAGGGATTGTTTTCAGGGAGGGAGACAGACCTTGAATCAGAGAGTTGTGATAGACTGCCTCTTCCTCAAGGAACAAACAACAAATGGCTCTGATGGTTTGTAGCCTGCCTAATTGGAAGAAAGGCAACACAGAAGTTTGAGAGCCCATCTAGTCCAGAGAAGGGGCCTCTGGACAGAGGTGGGAGGAGTGGGGGACAGAGTGGTATGGGTTGGGCTGCGAAGGGAGTTGCCTCTTCTTTACATCTACCTGCCAACCCCTTCCATTGTATTCACCTCAGTTGGAAAAGTACCAGCAAGGAGACTTTGGTTACTGTCCTCGTGTGTACTGTGAGAACCAGCCAATGCTTCCCATTGGTGAGTGTTGAAGAAGGGAAAGGAAAGCACCGTGTGGCAGTCTTATGGGAAGGAGTTGGGGCTCAACACATTGGAGCCTGAGTCCTGAGGGGAGGTTAGGTAGGAATAGGGGGATACCTGGCCTGCTGAGTCTGGCTGTCTCCCAGGCCTTTCAGACATCCCAGGTGAAGCCATGGTGAAGCTCTACTGCCCCAAGTGCATGGATGTGTACACACCCAAGTCATCAAGACACCATCACACGGATGGCGCCTACTTCGGCACTGGTTTCCCTCACATGCTCTTCATGGTGCATCCCGAGTACCGGCCCAAGAGACCTGCCAACCAGTTTGTGCCCAGGTAGGGAGCAGGGAGAGTCATTAAGGGTCAAAGGAAAGGCCCAAGATCCCCCAGAGAGGGGAGGACAGGGCATGGCCCTTTCTTGAGGTCTGCTTCTCCCAGAATCAGGGCATCTCCCTGCTGAGTGACTGTGGGAAAGTTATTTGATTATCTGTGCTTGAGTTACCTTATTGTAGAATGTTCTTGAGCTGAGAAGTTGGGAACCACGAGGCTTTAGCTCTGAGCAGGTCCATAGAGGAGCTCAGGTGGGGAGGTGGGAATGCAGGTGACTGGCAGGGCCTGGATGGGGCTCATGCTGCTGCCTCTCTGACCTCTGCCCTGGCCTAGGCTCTACGGTTTCAAGATCCATCCGATGGCCTACCAGCTGCAGCTCCAAGCCGCCAGCAACTTCAAGAGCCCAGTCAAGACGATTCGCTGATTCCCTCCCCCACCTGTCCTGCAGTCTTTGACTTTTCCTTTCTTTTTTGCCACCCTTTCAGGAACCCTGTATGGTTTTTAGTTTAAATTAAAGGAGTCGTTATCGTGGTGGGAATATGAAATAAAGTAGAAGAAAAGGCCATGAGCTAGTCTGCTGGTGCTTGCTGTTGGGGAAGGGAAGGTGATGGTGTGTTGGACTCCAGGGGCCCTCATGGCCCAGCCCACCCTCCCCAGATTGAAAACCAGGACAGATTTGTGCTCAGTGGATTGGGTGGTGTTTTTAGTATGGAGCAGAACAGAATTCCTAGGACTGCGTGTGATGAAATGCAAGGTCAAAAGGAAAAGACAAAGCATATTTCAAAGATGAGAAATATTTGTTTGGATATCTATGACTGTCTGTTTATACTGTAAGGGGCTTAATCAGCAGCTCCATCTTTTAGTTTTAGTTCTAAAGGAAAAGTAGCCTAAAGTCAGTATAACTAAAGGGTGGAACGAGGTGGGACAAGGTCCGGAATTGCTGCTCAGTGATGTGTGTGTGCCTGCCGCTGGTGGAGCTGAGACTGCTCATCTCAGAAGGATGGGGATGCTTGATTTCCTGGCCAGGTTGTCCCAGCACAGTGGGGATTGGCCCTGTTGTATGACGAAGACAGCACATGGTGGCAGAGATAGATACTAACCCATGGACTTTCCAAGGGAGGGAATAGGTCTTTGGAG
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Task1_train_10108
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The gene CSNK2B (casein kinase 2 beta) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; not provided
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CGGGCTGGTGGGTCAAAGTATCTGTTGGCTTCTTTCAAGTGGTGGGACCCCAAAGAATGTTTAACTTCAAAGAAAAGGGGCTGAGATGTAAATTAGAGGAGCTGGAGAGGAGTGCTTCAGAGTTTGGGTTGCTTTAAGAAAGGGTGGTTCCGAATTCTCCCGTGGTTGGAGGGCCGAATGTGGGAGGAGGGAGGATACCAGAGGCAGGGAAGGAGAACTTGAGCTTTACTGACACTGTTCTTTTTCTAGCTGACGTGAAGATGAGCAGCTCAGAGGAGGTGTCCTGGATTTCCTGGTTCTGTGGGCTCCGTGGCAATGAATTCTTCTGTGAAGTGAGTTCTCTTCAACCTCCCTACTTGCCAGCTTCACATATCTTCCCACCAGACGTTCCTTCACATATTCCACTTCTGCACTGTTCTCTTACATGCTATTTGAAAACTTCCTATCAGCAAAGAGTCCCCCCTATAAACCCCGACGAACCTGTGCTAAAGTGGCAAAACTGGGGCCCAAGTCCTGAGTCTGCCACCGTCCAGCAATATAACGTTGGGCTAGTCAATTTGTGTCTTTTTCTTTTTTTTGAGACTGGGTCTCACTCTGTCACCGAGGCTGGAGGGTAGTGGTGCGATCTCGGCTTACTGCCACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTCCAGCCTCCCAAGTAGCTGGGATTACAAGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATGTCTAAGAAAAAGATTGCTGTATCTACTTATCCTTAGAAAAGAAAAGCCAAAGCTTTTATGGGAGAGAGTGTAGGTGAACTAGGGAGAGACACAAGTACTTCTGCTGAGTTGGGAGTGAGAAACAAGCACAACAGATGCAGTTGTGTTGATGATAAGGCATCACTTAGAGCATTTTGCCCAGGTCAAAGATGAGGATTTTGATATGGGTTCCCTCTTGGCTTCCATGTCCTGACAGGTGGATGAAGACTACATCCAGGACAAATTTAATCTTACTGGACTCAATGAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTGGTGAGGCACCCTCAGGGTTGTTTTGTGTGTGTGCGTGCACTATTTTTCTCTTCAAATCTCTATTCACTTGCCTGAATTTTGAAATTTCCTTTGGTTCTCTGATTTCTTTAACCCCAAATTCATGCTTTATTTTGATCCTCCACCTGACTCTTGTCTAGTTTTGTGACGTATATCACTTGTTCTCATGTTTTCTAAATCCGCAATTCAGACCTATTCCAAAATGCGTTTCCTCATGGGTCTGGTTTGTTGTCTGTTTCTCCTGCTTTGCACCTTCCAGTCTAGAATTTCATCTTCTGCATTGACATTGTTGCAGTTATGTATTGAGGAGGGAGTTGGGAGGGAGAGCAAGGAGCAGAGGCTGAAAAGGTGTGAAGGGAAGGCAGAGCTGTCTTCGTTTGATGCAAGGGTCAGAAGCCCAGGTTTCTGGGTCCCATGCCCAGATGTTGGATGGGGTAAGGCCCAAAAGTAGGTGCTAGGCAAACTGAATAGCCCGCAGCCCCTGGATATGGGCAGGGCACCTAGGAAAGCTGAAAAACAAGTAGTTGCATTTGGCCGGGCTGTGTTTCAGATGAAGAACTGGAAGACAACCCCAACCAGAGTGACCTGATTGAGCAGGCAGCCGAGATGCTTTATGGATTGATCCACGCCCGCTACATCCTTACCAACCGTGGCATCGCCCAGATGGTGAGGCCTCTCTGCTCCTACCTGCCTCCTTCTGAGCAGTAAGAGACACAGGTTCCTGCAGCAAGAAGTCATGTTTAAGCCCTGTTTAAGGAAGCTAGCTGAGAAGAGGGGAAGAACCCCAGAACTTGGGCCTGGGAATTGAATTCTGATTGGGGGTCATCCTGAAGGGATTGTTTTCAGGGAGGGAGACAGACCTTGAATCAGAGAGTTGTGATAGACTGCCTCTTCCTCAAGGAACAAACAACAAATGGCTCTGATGGTTTGTAGCCTGCCTAATTGGAAGAAAGGCAACACAGAAGTTTGAGAGCCCATCTAGTCCAGAGAAGGGGCCTCTGGACAGAGGTGGGAGGAGTGGGGGACAGAGTGGTATGGGTTGGGCTGCGAAGGGAGTTGCCTCTTCTTTACATCTACCTGCCAACCCCTTCCATTGTATTCACCTCAGTTGGAAAAGTACCAGCAAGGAGACTTTGGTTACTGTCCTCGTGTGTACTGTGAGAACCAGCCAATGCTTCCCATTGGTGAGTGTTGAAGAAGGGAAAGGAAAGCACCGTGTGGCAGTCTTATGGGAAGGAGTTGGGGCTCAACACATTGGAGCCTGAGTCCTGAGGGGAGGTTAGGTAGGAATAGGGGGATACCTGGCCTGCTGAGTCTGGCTGTCTCCCAGGCCTTTCAGACATCCCAGGTGAAGCCATGGTGAAGCTCTACTGCCCCAAGTGCATGGATGTGTACACACCCAAGTCATCAAGACACCATCACACGGATGGCGCCTACTTCGGCACTGGTTTCCCTCACATGCTCTTCATGGTGCATCCCGAGTACCGGCCCAAGAGACCTGCCAACCAGTTTGTGCCCAGGTAGGGAGCAGGGAGAGTCATTAAGGGTCAAAGGAAAGGCCCAAGATCCCCCAGAGAGGGGAGGACAGGGCATGGCCCTTTCTTGAGGTCTGCTTCTCCCAGAATCAGGGCATCTCCCTGCTGAGTGACTGTGGGAAAGTTATTTGATTATCTGTGCTTGAGTTACCTTATTGTAGAATGTTCTTGAGCTGAGAAGTTGGGAACCACGAGGCTTTAGCTCTGAGCAGGTCCATAGAGGAGCTCAGGTGGGGAGGTGGGAATGCAGGTGACTGGCAGGGCCTGGATGGGGCTCATGCTGCTGCCTCTCTGACCTCTGCCCTGGCCTAGGCTCTACGGTTTCAAGATCCATCCGATGGCCTACCAGCTGCAGCTCCAAGCCGCCAGCAACTTCAAGAGCCCAGTCAAGACGATTCGCTGATTCCCTCCCCCACCTGTCCTGCAGTCTTTGACTTTTCCTTTCTTTTTTGCCACCCTTTCAGGAACCCTGTATGGTTTTTAGTTTAAATTAAAGGAGTCGTTATCGTGGTGGGAATATGAAATAAAGTAGAAGAAAAGGCCATGAGCTAGTCTGCTGGTGCTTGCTGTTGGGGAAGGGAAGGTGATGGTGTGTTGGACTCCAGGGGCCCTCATGGCCCAGCCCACCCTCCCCAGATTGAAAACCAGGACAGATTTGTGCTCAGTGGATTGGGTGGTGTTTTTAGTATGGAGCAGAACAGAATTCCTAGGACTGCGTGTGATGAAATGCAAGGTCAAAAGGAAAAGACAAAGCATATTTCAAAGATGAGAAATATTTGTTTGGATATCTATGACTGTCTGTTTATACTGTAAGGGGCTTAATCAGCAGCTCCATCTTTTAGTTTTAGTTCTAAAGGAAAAGTAGCCTAAAGTCAGTATAACTAAAGGGTGGAACGAGGTGGGACAAGGTCCGGAATTGCTGCTCAGTGATGTGTGTGTGCCTGCCGCTGGTGGAGCTGAGACTGCTCATCTCAGAAGGATGGGGATGCTTGATTTCCTGGCCAGGTTGTCCCAGCACAGTGGGGATTGGCCCTGTTGTATGACGAAGACAGCACATGGTGGCAGAGATAGATACTAACCCATGGACTTTCCAAGGGAGGGAATAGGTCTTTGGAGGGTATGCAAGACAAAGGTAGACACTGGA
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CGGGCTGGTGGGTCAAAGTATCTGTTGGCTTCTTTCAAGTGGTGGGACCCCAAAGAATGTTTAACTTCAAAGAAAAGGGGCTGAGATGTAAATTAGAGGAGCTGGAGAGGAGTGCTTCAGAGTTTGGGTTGCTTTAAGAAAGGGTGGTTCCGAATTCTCCCGTGGTTGGAGGGCCGAATGTGGGAGGAGGGAGGATACCAGAGGCAGGGAAGGAGAACTTGAGCTTTACTGACACTGTTCTTTTTCTAGCTGACGTGAAGATGAGCAGCTCAGAGGAGGTGTCCTGGATTTCCTGGTTCTGTGGGCTCCGTGGCAATGAATTCTTCTGTGAAGTGAGTTCTCTTCAACCTCCCTACTTGCCAGCTTCACATATCTTCCCACCAGACGTTCCTTCACATATTCCACTTCTGCACTGTTCTCTTACATGCTATTTGAAAACTTCCTATCAGCAAAGAGTCCCCCCTATAAACCCCGACGAACCTGTGCTAAAGTGGCAAAACTGGGGCCCAAGTCCTGAGTCTGCCACCGTCCAGCAATATAACGTTGGGCTAGTCAATTTGTGTCTTTTTCTTTTTTTTGAGACTGGGTCTCACTCTGTCACCGAGGCTGGAGGGTAGTGGTGCGATCTCGGCTTACTGCCACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTCCAGCCTCCCAAGTAGCTGGGATTACAAGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATGTCTAAGAAAAAGATTGCTGTATCTACTTATCCTTAGAAAAGAAAAGCCAAAGCTTTTATGGGAGAGAGTGTAGGTGAACTAGGGAGAGACACAAGTACTTCTGCTGAGTTGGGAGTGAGAAACAAGCACAACAGATGCAGTTGTGTTGATGATAAGGCATCACTTAGAGCATTTTGCCCAGGTCAAAGATGAGGATTTTGATATGGGTTCCCTCTTGGCTTCCATGTCCTGACAGGTGGATGAAGACTACATCCAGGACAAATTTAATCTTACTGGACTCAATGAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTGGTGAGGCACCCTCAGGGTTGTTTTGTGTGTGTGCGTGCACTATTTTTCTCTTCAAATCTCTATTCACTTGCCTGAATTTTGAAATTTCCTTTGGTTCTCTGATTTCTTTAACCCCAAATTCATGCTTTATTTTGATCCTCCACCTGACTCTTGTCTAGTTTTGTGACGTATATCACTTGTTCTCATGTTTTCTAAATCCGCAATTCAGACCTATTCCAAAATGCGTTTCCTCATGGGTCTGGTTTGTTGTCTGTTTCTCCTGCTTTGCACCTTCCAGTCTAGAATTTCATCTTCTGCATTGACATTGTTGCAGTTATGTATTGAGGAGGGAGTTGGGAGGGAGAGCAAGGAGCAGAGGCTGAAAAGGTGTGAAGGGAAGGCAGAGCTGTCTTCGTTTGATGCAAGGGTCAGAAGCCCAGGTTTCTGGGTCCCATGCCCAGATGTTGGATGGGGTAAGGCCCAAAAGTAGGTGCTAGGCAAACTGAATAGCCCGCAGCCCCTGGATATGGGCAGGGCACCTAGGAAAGCTGAAAAACAAGTAGTTGCATTTGGCCGGGCTGTGTTTCAGATGAAGAACTGGAAGACAACCCCAACCAGAGTGACCTGATTGAGCAGGCAGCCGAGATGCTTTATGGATTGATCCACGCCCACTACATCCTTACCAACCGTGGCATCGCCCAGATGGTGAGGCCTCTCTGCTCCTACCTGCCTCCTTCTGAGCAGTAAGAGACACAGGTTCCTGCAGCAAGAAGTCATGTTTAAGCCCTGTTTAAGGAAGCTAGCTGAGAAGAGGGGAAGAACCCCAGAACTTGGGCCTGGGAATTGAATTCTGATTGGGGGTCATCCTGAAGGGATTGTTTTCAGGGAGGGAGACAGACCTTGAATCAGAGAGTTGTGATAGACTGCCTCTTCCTCAAGGAACAAACAACAAATGGCTCTGATGGTTTGTAGCCTGCCTAATTGGAAGAAAGGCAACACAGAAGTTTGAGAGCCCATCTAGTCCAGAGAAGGGGCCTCTGGACAGAGGTGGGAGGAGTGGGGGACAGAGTGGTATGGGTTGGGCTGCGAAGGGAGTTGCCTCTTCTTTACATCTACCTGCCAACCCCTTCCATTGTATTCACCTCAGTTGGAAAAGTACCAGCAAGGAGACTTTGGTTACTGTCCTCGTGTGTACTGTGAGAACCAGCCAATGCTTCCCATTGGTGAGTGTTGAAGAAGGGAAAGGAAAGCACCGTGTGGCAGTCTTATGGGAAGGAGTTGGGGCTCAACACATTGGAGCCTGAGTCCTGAGGGGAGGTTAGGTAGGAATAGGGGGATACCTGGCCTGCTGAGTCTGGCTGTCTCCCAGGCCTTTCAGACATCCCAGGTGAAGCCATGGTGAAGCTCTACTGCCCCAAGTGCATGGATGTGTACACACCCAAGTCATCAAGACACCATCACACGGATGGCGCCTACTTCGGCACTGGTTTCCCTCACATGCTCTTCATGGTGCATCCCGAGTACCGGCCCAAGAGACCTGCCAACCAGTTTGTGCCCAGGTAGGGAGCAGGGAGAGTCATTAAGGGTCAAAGGAAAGGCCCAAGATCCCCCAGAGAGGGGAGGACAGGGCATGGCCCTTTCTTGAGGTCTGCTTCTCCCAGAATCAGGGCATCTCCCTGCTGAGTGACTGTGGGAAAGTTATTTGATTATCTGTGCTTGAGTTACCTTATTGTAGAATGTTCTTGAGCTGAGAAGTTGGGAACCACGAGGCTTTAGCTCTGAGCAGGTCCATAGAGGAGCTCAGGTGGGGAGGTGGGAATGCAGGTGACTGGCAGGGCCTGGATGGGGCTCATGCTGCTGCCTCTCTGACCTCTGCCCTGGCCTAGGCTCTACGGTTTCAAGATCCATCCGATGGCCTACCAGCTGCAGCTCCAAGCCGCCAGCAACTTCAAGAGCCCAGTCAAGACGATTCGCTGATTCCCTCCCCCACCTGTCCTGCAGTCTTTGACTTTTCCTTTCTTTTTTGCCACCCTTTCAGGAACCCTGTATGGTTTTTAGTTTAAATTAAAGGAGTCGTTATCGTGGTGGGAATATGAAATAAAGTAGAAGAAAAGGCCATGAGCTAGTCTGCTGGTGCTTGCTGTTGGGGAAGGGAAGGTGATGGTGTGTTGGACTCCAGGGGCCCTCATGGCCCAGCCCACCCTCCCCAGATTGAAAACCAGGACAGATTTGTGCTCAGTGGATTGGGTGGTGTTTTTAGTATGGAGCAGAACAGAATTCCTAGGACTGCGTGTGATGAAATGCAAGGTCAAAAGGAAAAGACAAAGCATATTTCAAAGATGAGAAATATTTGTTTGGATATCTATGACTGTCTGTTTATACTGTAAGGGGCTTAATCAGCAGCTCCATCTTTTAGTTTTAGTTCTAAAGGAAAAGTAGCCTAAAGTCAGTATAACTAAAGGGTGGAACGAGGTGGGACAAGGTCCGGAATTGCTGCTCAGTGATGTGTGTGTGCCTGCCGCTGGTGGAGCTGAGACTGCTCATCTCAGAAGGATGGGGATGCTTGATTTCCTGGCCAGGTTGTCCCAGCACAGTGGGGATTGGCCCTGTTGTATGACGAAGACAGCACATGGTGGCAGAGATAGATACTAACCCATGGACTTTCCAAGGGAGGGAATAGGTCTTTGGAGGGTATGCAAGACAAAGGTAGACACTGGA
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Task1_train_10109
|
A genetic alteration is present in CSNK2B (casein kinase 2 beta) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Poirier-Bienvenu neurodevelopmental syndrome
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GTCTGCCACCGTCCAGCAATATAACGTTGGGCTAGTCAATTTGTGTCTTTTTCTTTTTTTTGAGACTGGGTCTCACTCTGTCACCGAGGCTGGAGGGTAGTGGTGCGATCTCGGCTTACTGCCACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTCCAGCCTCCCAAGTAGCTGGGATTACAAGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATGTCTAAGAAAAAGATTGCTGTATCTACTTATCCTTAGAAAAGAAAAGCCAAAGCTTTTATGGGAGAGAGTGTAGGTGAACTAGGGAGAGACACAAGTACTTCTGCTGAGTTGGGAGTGAGAAACAAGCACAACAGATGCAGTTGTGTTGATGATAAGGCATCACTTAGAGCATTTTGCCCAGGTCAAAGATGAGGATTTTGATATGGGTTCCCTCTTGGCTTCCATGTCCTGACAGGTGGATGAAGACTACATCCAGGACAAATTTAATCTTACTGGACTCAATGAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTGGTGAGGCACCCTCAGGGTTGTTTTGTGTGTGTGCGTGCACTATTTTTCTCTTCAAATCTCTATTCACTTGCCTGAATTTTGAAATTTCCTTTGGTTCTCTGATTTCTTTAACCCCAAATTCATGCTTTATTTTGATCCTCCACCTGACTCTTGTCTAGTTTTGTGACGTATATCACTTGTTCTCATGTTTTCTAAATCCGCAATTCAGACCTATTCCAAAATGCGTTTCCTCATGGGTCTGGTTTGTTGTCTGTTTCTCCTGCTTTGCACCTTCCAGTCTAGAATTTCATCTTCTGCATTGACATTGTTGCAGTTATGTATTGAGGAGGGAGTTGGGAGGGAGAGCAAGGAGCAGAGGCTGAAAAGGTGTGAAGGGAAGGCAGAGCTGTCTTCGTTTGATGCAAGGGTCAGAAGCCCAGGTTTCTGGGTCCCATGCCCAGATGTTGGATGGGGTAAGGCCCAAAAGTAGGTGCTAGGCAAACTGAATAGCCCGCAGCCCCTGGATATGGGCAGGGCACCTAGGAAAGCTGAAAAACAAGTAGTTGCATTTGGCCGGGCTGTGTTTCAGATGAAGAACTGGAAGACAACCCCAACCAGAGTGACCTGATTGAGCAGGCAGCCGAGATGCTTTATGGATTGATCCACGCCCGCTACATCCTTACCAACCGTGGCATCGCCCAGATGGTGAGGCCTCTCTGCTCCTACCTGCCTCCTTCTGAGCAGTAAGAGACACAGGTTCCTGCAGCAAGAAGTCATGTTTAAGCCCTGTTTAAGGAAGCTAGCTGAGAAGAGGGGAAGAACCCCAGAACTTGGGCCTGGGAATTGAATTCTGATTGGGGGTCATCCTGAAGGGATTGTTTTCAGGGAGGGAGACAGACCTTGAATCAGAGAGTTGTGATAGACTGCCTCTTCCTCAAGGAACAAACAACAAATGGCTCTGATGGTTTGTAGCCTGCCTAATTGGAAGAAAGGCAACACAGAAGTTTGAGAGCCCATCTAGTCCAGAGAAGGGGCCTCTGGACAGAGGTGGGAGGAGTGGGGGACAGAGTGGTATGGGTTGGGCTGCGAAGGGAGTTGCCTCTTCTTTACATCTACCTGCCAACCCCTTCCATTGTATTCACCTCAGTTGGAAAAGTACCAGCAAGGAGACTTTGGTTACTGTCCTCGTGTGTACTGTGAGAACCAGCCAATGCTTCCCATTGGTGAGTGTTGAAGAAGGGAAAGGAAAGCACCGTGTGGCAGTCTTATGGGAAGGAGTTGGGGCTCAACACATTGGAGCCTGAGTCCTGAGGGGAGGTTAGGTAGGAATAGGGGGATACCTGGCCTGCTGAGTCTGGCTGTCTCCCAGGCCTTTCAGACATCCCAGGTGAAGCCATGGTGAAGCTCTACTGCCCCAAGTGCATGGATGTGTACACACCCAAGTCATCAAGACACCATCACACGGATGGCGCCTACTTCGGCACTGGTTTCCCTCACATGCTCTTCATGGTGCATCCCGAGTACCGGCCCAAGAGACCTGCCAACCAGTTTGTGCCCAGGTAGGGAGCAGGGAGAGTCATTAAGGGTCAAAGGAAAGGCCCAAGATCCCCCAGAGAGGGGAGGACAGGGCATGGCCCTTTCTTGAGGTCTGCTTCTCCCAGAATCAGGGCATCTCCCTGCTGAGTGACTGTGGGAAAGTTATTTGATTATCTGTGCTTGAGTTACCTTATTGTAGAATGTTCTTGAGCTGAGAAGTTGGGAACCACGAGGCTTTAGCTCTGAGCAGGTCCATAGAGGAGCTCAGGTGGGGAGGTGGGAATGCAGGTGACTGGCAGGGCCTGGATGGGGCTCATGCTGCTGCCTCTCTGACCTCTGCCCTGGCCTAGGCTCTACGGTTTCAAGATCCATCCGATGGCCTACCAGCTGCAGCTCCAAGCCGCCAGCAACTTCAAGAGCCCAGTCAAGACGATTCGCTGATTCCCTCCCCCACCTGTCCTGCAGTCTTTGACTTTTCCTTTCTTTTTTGCCACCCTTTCAGGAACCCTGTATGGTTTTTAGTTTAAATTAAAGGAGTCGTTATCGTGGTGGGAATATGAAATAAAGTAGAAGAAAAGGCCATGAGCTAGTCTGCTGGTGCTTGCTGTTGGGGAAGGGAAGGTGATGGTGTGTTGGACTCCAGGGGCCCTCATGGCCCAGCCCACCCTCCCCAGATTGAAAACCAGGACAGATTTGTGCTCAGTGGATTGGGTGGTGTTTTTAGTATGGAGCAGAACAGAATTCCTAGGACTGCGTGTGATGAAATGCAAGGTCAAAAGGAAAAGACAAAGCATATTTCAAAGATGAGAAATATTTGTTTGGATATCTATGACTGTCTGTTTATACTGTAAGGGGCTTAATCAGCAGCTCCATCTTTTAGTTTTAGTTCTAAAGGAAAAGTAGCCTAAAGTCAGTATAACTAAAGGGTGGAACGAGGTGGGACAAGGTCCGGAATTGCTGCTCAGTGATGTGTGTGTGCCTGCCGCTGGTGGAGCTGAGACTGCTCATCTCAGAAGGATGGGGATGCTTGATTTCCTGGCCAGGTTGTCCCAGCACAGTGGGGATTGGCCCTGTTGTATGACGAAGACAGCACATGGTGGCAGAGATAGATACTAACCCATGGACTTTCCAAGGGAGGGAATAGGTCTTTGGAGGGTATGCAAGACAAAGGTAGACACTGGATAAAGAACCCGGTAGTGCCCAGGTATTACCCCATCTGGGCCATTACTCCCACACTCAGGAACCAGACGTTGTGGGTGAGGACATGCTGTCCCTCCTGCCAAGTAATAACTTCCTTCCCAGCCAGGATCCTGCCCCAAGTAGGAATATAGCTCTGCATTTACAGCAGCTCCTGCTCAGACCTTGTCAAAACCACCCTGCAGCTTAGGATTAAGGAGCATGGTCACAGGAAGGTGGGGTTTCAGGGCATCCCCTCAGGAACTGCCCATCTCCCCAGAATTCCAAAATGAAGGTCCATATGCTTGTAGGTGTGCTGGTCATGGTGGGCTTCACAGTAGGAAAGGGTAAGTGGGGCCCAGGGGCAGGGAGGGAGGAAGGGGTAACTGAGTCCAGGAAGGGGGTGGAGCGTGGCCATGGATAATCGGGCTTCCTACTGGCCCAGGGTATTTGAGAGTGACCCAGTGCCTCCATCCCTCCTTCTGCCTCCCCAGTTCCTGTTCCCGACATCCGGACGTGCCAC
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GTCTGCCACCGTCCAGCAATATAACGTTGGGCTAGTCAATTTGTGTCTTTTTCTTTTTTTTGAGACTGGGTCTCACTCTGTCACCGAGGCTGGAGGGTAGTGGTGCGATCTCGGCTTACTGCCACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTCCAGCCTCCCAAGTAGCTGGGATTACAAGTGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATGTCTAAGAAAAAGATTGCTGTATCTACTTATCCTTAGAAAAGAAAAGCCAAAGCTTTTATGGGAGAGAGTGTAGGTGAACTAGGGAGAGACACAAGTACTTCTGCTGAGTTGGGAGTGAGAAACAAGCACAACAGATGCAGTTGTGTTGATGATAAGGCATCACTTAGAGCATTTTGCCCAGGTCAAAGATGAGGATTTTGATATGGGTTCCCTCTTGGCTTCCATGTCCTGACAGGTGGATGAAGACTACATCCAGGACAAATTTAATCTTACTGGACTCAATGAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTGGTGAGGCACCCTCAGGGTTGTTTTGTGTGTGTGCGTGCACTATTTTTCTCTTCAAATCTCTATTCACTTGCCTGAATTTTGAAATTTCCTTTGGTTCTCTGATTTCTTTAACCCCAAATTCATGCTTTATTTTGATCCTCCACCTGACTCTTGTCTAGTTTTGTGACGTATATCACTTGTTCTCATGTTTTCTAAATCCGCAATTCAGACCTATTCCAAAATGCGTTTCCTCATGGGTCTGGTTTGTTGTCTGTTTCTCCTGCTTTGCACCTTCCAGTCTAGAATTTCATCTTCTGCATTGACATTGTTGCAGTTATGTATTGAGGAGGGAGTTGGGAGGGAGAGCAAGGAGCAGAGGCTGAAAAGGTGTGAAGGGAAGGCAGAGCTGTCTTCGTTTGATGCAAGGGTCAGAAGCCCAGGTTTCTGGGTCCCATGCCCAGATGTTGGATGGGGTAAGGCCCAAAAGTAGGTGCTAGGCAAACTGAATAGCCCGCAGCCCCTGGATATGGGCAGGGCACCTAGGAAAGCTGAAAAACAAGTAGTTGCATTTGGCCGGGCTGTGTTTCAGATGAAGAACTGGAAGACAACCCCAACCAGAGTGACCTGATTGAGCAGGCAGCCGAGATGCTTTATGGATTGATCCACGCCCGCTACATCCTTACCAACCGTGGCATCGCCCAGATGGTGAGGCCTCTCTGCTCCTACCTGCCTCCTTCTGAGCAGTAAGAGACACAGGTTCCTGCAGCAAGAAGTCATGTTTAAGCCCTGTTTAAGGAAGCTAGCTGAGAAGAGGGGAAGAACCCCAGAACTTGGGCCTGGGAATTGAATTCTGATTGGGGGTCATCCTGAAGGGATTGTTTTCAGGGAGGGAGACAGACCTTGAATCAGAGAGTTGTGATAGACTGCCTCTTCCTCAAGGAACAAACAACAAATGGCTCTGATGGTTTGTAGCCTGCCTAATTGGAAGAAAGGCAACACAGAAGTTTGAGAGCCCATCTAGTCCAGAGAAGGGGCCTCTGGACAGAGGTGGGAGGAGTGGGGGACAGAGTGGTATGGGTTGGGCTGCGAAGGGAGTTGCCTCTTCTTTACATCTACCTGCCAACCCCTTCCATTGTATTCACCTCAGTTGGAAAAGTACCAGCAAGGAGACTTTGGTTACTGTCCTCCTGTGTACTGTGAGAACCAGCCAATGCTTCCCATTGGTGAGTGTTGAAGAAGGGAAAGGAAAGCACCGTGTGGCAGTCTTATGGGAAGGAGTTGGGGCTCAACACATTGGAGCCTGAGTCCTGAGGGGAGGTTAGGTAGGAATAGGGGGATACCTGGCCTGCTGAGTCTGGCTGTCTCCCAGGCCTTTCAGACATCCCAGGTGAAGCCATGGTGAAGCTCTACTGCCCCAAGTGCATGGATGTGTACACACCCAAGTCATCAAGACACCATCACACGGATGGCGCCTACTTCGGCACTGGTTTCCCTCACATGCTCTTCATGGTGCATCCCGAGTACCGGCCCAAGAGACCTGCCAACCAGTTTGTGCCCAGGTAGGGAGCAGGGAGAGTCATTAAGGGTCAAAGGAAAGGCCCAAGATCCCCCAGAGAGGGGAGGACAGGGCATGGCCCTTTCTTGAGGTCTGCTTCTCCCAGAATCAGGGCATCTCCCTGCTGAGTGACTGTGGGAAAGTTATTTGATTATCTGTGCTTGAGTTACCTTATTGTAGAATGTTCTTGAGCTGAGAAGTTGGGAACCACGAGGCTTTAGCTCTGAGCAGGTCCATAGAGGAGCTCAGGTGGGGAGGTGGGAATGCAGGTGACTGGCAGGGCCTGGATGGGGCTCATGCTGCTGCCTCTCTGACCTCTGCCCTGGCCTAGGCTCTACGGTTTCAAGATCCATCCGATGGCCTACCAGCTGCAGCTCCAAGCCGCCAGCAACTTCAAGAGCCCAGTCAAGACGATTCGCTGATTCCCTCCCCCACCTGTCCTGCAGTCTTTGACTTTTCCTTTCTTTTTTGCCACCCTTTCAGGAACCCTGTATGGTTTTTAGTTTAAATTAAAGGAGTCGTTATCGTGGTGGGAATATGAAATAAAGTAGAAGAAAAGGCCATGAGCTAGTCTGCTGGTGCTTGCTGTTGGGGAAGGGAAGGTGATGGTGTGTTGGACTCCAGGGGCCCTCATGGCCCAGCCCACCCTCCCCAGATTGAAAACCAGGACAGATTTGTGCTCAGTGGATTGGGTGGTGTTTTTAGTATGGAGCAGAACAGAATTCCTAGGACTGCGTGTGATGAAATGCAAGGTCAAAAGGAAAAGACAAAGCATATTTCAAAGATGAGAAATATTTGTTTGGATATCTATGACTGTCTGTTTATACTGTAAGGGGCTTAATCAGCAGCTCCATCTTTTAGTTTTAGTTCTAAAGGAAAAGTAGCCTAAAGTCAGTATAACTAAAGGGTGGAACGAGGTGGGACAAGGTCCGGAATTGCTGCTCAGTGATGTGTGTGTGCCTGCCGCTGGTGGAGCTGAGACTGCTCATCTCAGAAGGATGGGGATGCTTGATTTCCTGGCCAGGTTGTCCCAGCACAGTGGGGATTGGCCCTGTTGTATGACGAAGACAGCACATGGTGGCAGAGATAGATACTAACCCATGGACTTTCCAAGGGAGGGAATAGGTCTTTGGAGGGTATGCAAGACAAAGGTAGACACTGGATAAAGAACCCGGTAGTGCCCAGGTATTACCCCATCTGGGCCATTACTCCCACACTCAGGAACCAGACGTTGTGGGTGAGGACATGCTGTCCCTCCTGCCAAGTAATAACTTCCTTCCCAGCCAGGATCCTGCCCCAAGTAGGAATATAGCTCTGCATTTACAGCAGCTCCTGCTCAGACCTTGTCAAAACCACCCTGCAGCTTAGGATTAAGGAGCATGGTCACAGGAAGGTGGGGTTTCAGGGCATCCCCTCAGGAACTGCCCATCTCCCCAGAATTCCAAAATGAAGGTCCATATGCTTGTAGGTGTGCTGGTCATGGTGGGCTTCACAGTAGGAAAGGGTAAGTGGGGCCCAGGGGCAGGGAGGGAGGAAGGGGTAACTGAGTCCAGGAAGGGGGTGGAGCGTGGCCATGGATAATCGGGCTTCCTACTGGCCCAGGGTATTTGAGAGTGACCCAGTGCCTCCATCCCTCCTTCTGCCTCCCCAGTTCCTGTTCCCGACATCCGGACGTGCCAC
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Task1_train_10110
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Gene CSNK2B (casein kinase 2 beta), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Poirier-Bienvenu neurodevelopmental syndrome
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GTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATGTCTAAGAAAAAGATTGCTGTATCTACTTATCCTTAGAAAAGAAAAGCCAAAGCTTTTATGGGAGAGAGTGTAGGTGAACTAGGGAGAGACACAAGTACTTCTGCTGAGTTGGGAGTGAGAAACAAGCACAACAGATGCAGTTGTGTTGATGATAAGGCATCACTTAGAGCATTTTGCCCAGGTCAAAGATGAGGATTTTGATATGGGTTCCCTCTTGGCTTCCATGTCCTGACAGGTGGATGAAGACTACATCCAGGACAAATTTAATCTTACTGGACTCAATGAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTGGTGAGGCACCCTCAGGGTTGTTTTGTGTGTGTGCGTGCACTATTTTTCTCTTCAAATCTCTATTCACTTGCCTGAATTTTGAAATTTCCTTTGGTTCTCTGATTTCTTTAACCCCAAATTCATGCTTTATTTTGATCCTCCACCTGACTCTTGTCTAGTTTTGTGACGTATATCACTTGTTCTCATGTTTTCTAAATCCGCAATTCAGACCTATTCCAAAATGCGTTTCCTCATGGGTCTGGTTTGTTGTCTGTTTCTCCTGCTTTGCACCTTCCAGTCTAGAATTTCATCTTCTGCATTGACATTGTTGCAGTTATGTATTGAGGAGGGAGTTGGGAGGGAGAGCAAGGAGCAGAGGCTGAAAAGGTGTGAAGGGAAGGCAGAGCTGTCTTCGTTTGATGCAAGGGTCAGAAGCCCAGGTTTCTGGGTCCCATGCCCAGATGTTGGATGGGGTAAGGCCCAAAAGTAGGTGCTAGGCAAACTGAATAGCCCGCAGCCCCTGGATATGGGCAGGGCACCTAGGAAAGCTGAAAAACAAGTAGTTGCATTTGGCCGGGCTGTGTTTCAGATGAAGAACTGGAAGACAACCCCAACCAGAGTGACCTGATTGAGCAGGCAGCCGAGATGCTTTATGGATTGATCCACGCCCGCTACATCCTTACCAACCGTGGCATCGCCCAGATGGTGAGGCCTCTCTGCTCCTACCTGCCTCCTTCTGAGCAGTAAGAGACACAGGTTCCTGCAGCAAGAAGTCATGTTTAAGCCCTGTTTAAGGAAGCTAGCTGAGAAGAGGGGAAGAACCCCAGAACTTGGGCCTGGGAATTGAATTCTGATTGGGGGTCATCCTGAAGGGATTGTTTTCAGGGAGGGAGACAGACCTTGAATCAGAGAGTTGTGATAGACTGCCTCTTCCTCAAGGAACAAACAACAAATGGCTCTGATGGTTTGTAGCCTGCCTAATTGGAAGAAAGGCAACACAGAAGTTTGAGAGCCCATCTAGTCCAGAGAAGGGGCCTCTGGACAGAGGTGGGAGGAGTGGGGGACAGAGTGGTATGGGTTGGGCTGCGAAGGGAGTTGCCTCTTCTTTACATCTACCTGCCAACCCCTTCCATTGTATTCACCTCAGTTGGAAAAGTACCAGCAAGGAGACTTTGGTTACTGTCCTCGTGTGTACTGTGAGAACCAGCCAATGCTTCCCATTGGTGAGTGTTGAAGAAGGGAAAGGAAAGCACCGTGTGGCAGTCTTATGGGAAGGAGTTGGGGCTCAACACATTGGAGCCTGAGTCCTGAGGGGAGGTTAGGTAGGAATAGGGGGATACCTGGCCTGCTGAGTCTGGCTGTCTCCCAGGCCTTTCAGACATCCCAGGTGAAGCCATGGTGAAGCTCTACTGCCCCAAGTGCATGGATGTGTACACACCCAAGTCATCAAGACACCATCACACGGATGGCGCCTACTTCGGCACTGGTTTCCCTCACATGCTCTTCATGGTGCATCCCGAGTACCGGCCCAAGAGACCTGCCAACCAGTTTGTGCCCAGGTAGGGAGCAGGGAGAGTCATTAAGGGTCAAAGGAAAGGCCCAAGATCCCCCAGAGAGGGGAGGACAGGGCATGGCCCTTTCTTGAGGTCTGCTTCTCCCAGAATCAGGGCATCTCCCTGCTGAGTGACTGTGGGAAAGTTATTTGATTATCTGTGCTTGAGTTACCTTATTGTAGAATGTTCTTGAGCTGAGAAGTTGGGAACCACGAGGCTTTAGCTCTGAGCAGGTCCATAGAGGAGCTCAGGTGGGGAGGTGGGAATGCAGGTGACTGGCAGGGCCTGGATGGGGCTCATGCTGCTGCCTCTCTGACCTCTGCCCTGGCCTAGGCTCTACGGTTTCAAGATCCATCCGATGGCCTACCAGCTGCAGCTCCAAGCCGCCAGCAACTTCAAGAGCCCAGTCAAGACGATTCGCTGATTCCCTCCCCCACCTGTCCTGCAGTCTTTGACTTTTCCTTTCTTTTTTGCCACCCTTTCAGGAACCCTGTATGGTTTTTAGTTTAAATTAAAGGAGTCGTTATCGTGGTGGGAATATGAAATAAAGTAGAAGAAAAGGCCATGAGCTAGTCTGCTGGTGCTTGCTGTTGGGGAAGGGAAGGTGATGGTGTGTTGGACTCCAGGGGCCCTCATGGCCCAGCCCACCCTCCCCAGATTGAAAACCAGGACAGATTTGTGCTCAGTGGATTGGGTGGTGTTTTTAGTATGGAGCAGAACAGAATTCCTAGGACTGCGTGTGATGAAATGCAAGGTCAAAAGGAAAAGACAAAGCATATTTCAAAGATGAGAAATATTTGTTTGGATATCTATGACTGTCTGTTTATACTGTAAGGGGCTTAATCAGCAGCTCCATCTTTTAGTTTTAGTTCTAAAGGAAAAGTAGCCTAAAGTCAGTATAACTAAAGGGTGGAACGAGGTGGGACAAGGTCCGGAATTGCTGCTCAGTGATGTGTGTGTGCCTGCCGCTGGTGGAGCTGAGACTGCTCATCTCAGAAGGATGGGGATGCTTGATTTCCTGGCCAGGTTGTCCCAGCACAGTGGGGATTGGCCCTGTTGTATGACGAAGACAGCACATGGTGGCAGAGATAGATACTAACCCATGGACTTTCCAAGGGAGGGAATAGGTCTTTGGAGGGTATGCAAGACAAAGGTAGACACTGGATAAAGAACCCGGTAGTGCCCAGGTATTACCCCATCTGGGCCATTACTCCCACACTCAGGAACCAGACGTTGTGGGTGAGGACATGCTGTCCCTCCTGCCAAGTAATAACTTCCTTCCCAGCCAGGATCCTGCCCCAAGTAGGAATATAGCTCTGCATTTACAGCAGCTCCTGCTCAGACCTTGTCAAAACCACCCTGCAGCTTAGGATTAAGGAGCATGGTCACAGGAAGGTGGGGTTTCAGGGCATCCCCTCAGGAACTGCCCATCTCCCCAGAATTCCAAAATGAAGGTCCATATGCTTGTAGGTGTGCTGGTCATGGTGGGCTTCACAGTAGGAAAGGGTAAGTGGGGCCCAGGGGCAGGGAGGGAGGAAGGGGTAACTGAGTCCAGGAAGGGGGTGGAGCGTGGCCATGGATAATCGGGCTTCCTACTGGCCCAGGGTATTTGAGAGTGACCCAGTGCCTCCATCCCTCCTTCTGCCTCCCCAGTTCCTGTTCCCGACATCCGGACGTGCCACTTCTGCCTCGTAGAAGACCCTTCTGTAGGATGCATTTCAGGCTCAGAGAAGTGTACCATCAGCAGCTCATCCCTGTGCATGGTGATCACCATCTATTATGGTAAATAAGGTCCCAGGAAGGGGCTGCTGGTGGGGCAGCCAATGGCTTGGTCTTCTCTCCTCTCACAGATCAGGGCTGCTCCGGGCATGGGGTACAAGAAGAGAGGAGGGGCTGAGTGCAATGG
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GTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATGTCTAAGAAAAAGATTGCTGTATCTACTTATCCTTAGAAAAGAAAAGCCAAAGCTTTTATGGGAGAGAGTGTAGGTGAACTAGGGAGAGACACAAGTACTTCTGCTGAGTTGGGAGTGAGAAACAAGCACAACAGATGCAGTTGTGTTGATGATAAGGCATCACTTAGAGCATTTTGCCCAGGTCAAAGATGAGGATTTTGATATGGGTTCCCTCTTGGCTTCCATGTCCTGACAGGTGGATGAAGACTACATCCAGGACAAATTTAATCTTACTGGACTCAATGAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTGGTGAGGCACCCTCAGGGTTGTTTTGTGTGTGTGCGTGCACTATTTTTCTCTTCAAATCTCTATTCACTTGCCTGAATTTTGAAATTTCCTTTGGTTCTCTGATTTCTTTAACCCCAAATTCATGCTTTATTTTGATCCTCCACCTGACTCTTGTCTAGTTTTGTGACGTATATCACTTGTTCTCATGTTTTCTAAATCCGCAATTCAGACCTATTCCAAAATGCGTTTCCTCATGGGTCTGGTTTGTTGTCTGTTTCTCCTGCTTTGCACCTTCCAGTCTAGAATTTCATCTTCTGCATTGACATTGTTGCAGTTATGTATTGAGGAGGGAGTTGGGAGGGAGAGCAAGGAGCAGAGGCTGAAAAGGTGTGAAGGGAAGGCAGAGCTGTCTTCGTTTGATGCAAGGGTCAGAAGCCCAGGTTTCTGGGTCCCATGCCCAGATGTTGGATGGGGTAAGGCCCAAAAGTAGGTGCTAGGCAAACTGAATAGCCCGCAGCCCCTGGATATGGGCAGGGCACCTAGGAAAGCTGAAAAACAAGTAGTTGCATTTGGCCGGGCTGTGTTTCAGATGAAGAACTGGAAGACAACCCCAACCAGAGTGACCTGATTGAGCAGGCAGCCGAGATGCTTTATGGATTGATCCACGCCCGCTACATCCTTACCAACCGTGGCATCGCCCAGATGGTGAGGCCTCTCTGCTCCTACCTGCCTCCTTCTGAGCAGTAAGAGACACAGGTTCCTGCAGCAAGAAGTCATGTTTAAGCCCTGTTTAAGGAAGCTAGCTGAGAAGAGGGGAAGAACCCCAGAACTTGGGCCTGGGAATTGAATTCTGATTGGGGGTCATCCTGAAGGGATTGTTTTCAGGGAGGGAGACAGACCTTGAATCAGAGAGTTGTGATAGACTGCCTCTTCCTCAAGGAACAAACAACAAATGGCTCTGATGGTTTGTAGCCTGCCTAATTGGAAGAAAGGCAACACAGAAGTTTGAGAGCCCATCTAGTCCAGAGAAGGGGCCTCTGGACAGAGGTGGGAGGAGTGGGGGACAGAGTGGTATGGGTTGGGCTGCGAAGGGAGTTGCCTCTTCTTTACATCTACCTGCCAACCCCTTCCATTGTATTCACCTCAGTTGGAAAAGTACCAGCAAGGAGACTTTGGTTACTGTCCTCGTGTGTACTGTGAGAACCAGCCAATGCTTCCCATTGGTGAGTGTTGAAGAAGGGAAAGGAAAGCACCGTGTGGCAGTCTTATGGGAAGGAGTTGGGGCTCAACACATTGGAGCCTGAGTCCTGAGGGGAGGTTAGGTAGGAATAGGGGGATACCTGGCCTGCTGAGTCTGGCTGTCTCCCAGGCCTTTCAGACATCCCAGGTGAAGCCATGGTGAAGCTCTACTACCCCAAGTGCATGGATGTGTACACACCCAAGTCATCAAGACACCATCACACGGATGGCGCCTACTTCGGCACTGGTTTCCCTCACATGCTCTTCATGGTGCATCCCGAGTACCGGCCCAAGAGACCTGCCAACCAGTTTGTGCCCAGGTAGGGAGCAGGGAGAGTCATTAAGGGTCAAAGGAAAGGCCCAAGATCCCCCAGAGAGGGGAGGACAGGGCATGGCCCTTTCTTGAGGTCTGCTTCTCCCAGAATCAGGGCATCTCCCTGCTGAGTGACTGTGGGAAAGTTATTTGATTATCTGTGCTTGAGTTACCTTATTGTAGAATGTTCTTGAGCTGAGAAGTTGGGAACCACGAGGCTTTAGCTCTGAGCAGGTCCATAGAGGAGCTCAGGTGGGGAGGTGGGAATGCAGGTGACTGGCAGGGCCTGGATGGGGCTCATGCTGCTGCCTCTCTGACCTCTGCCCTGGCCTAGGCTCTACGGTTTCAAGATCCATCCGATGGCCTACCAGCTGCAGCTCCAAGCCGCCAGCAACTTCAAGAGCCCAGTCAAGACGATTCGCTGATTCCCTCCCCCACCTGTCCTGCAGTCTTTGACTTTTCCTTTCTTTTTTGCCACCCTTTCAGGAACCCTGTATGGTTTTTAGTTTAAATTAAAGGAGTCGTTATCGTGGTGGGAATATGAAATAAAGTAGAAGAAAAGGCCATGAGCTAGTCTGCTGGTGCTTGCTGTTGGGGAAGGGAAGGTGATGGTGTGTTGGACTCCAGGGGCCCTCATGGCCCAGCCCACCCTCCCCAGATTGAAAACCAGGACAGATTTGTGCTCAGTGGATTGGGTGGTGTTTTTAGTATGGAGCAGAACAGAATTCCTAGGACTGCGTGTGATGAAATGCAAGGTCAAAAGGAAAAGACAAAGCATATTTCAAAGATGAGAAATATTTGTTTGGATATCTATGACTGTCTGTTTATACTGTAAGGGGCTTAATCAGCAGCTCCATCTTTTAGTTTTAGTTCTAAAGGAAAAGTAGCCTAAAGTCAGTATAACTAAAGGGTGGAACGAGGTGGGACAAGGTCCGGAATTGCTGCTCAGTGATGTGTGTGTGCCTGCCGCTGGTGGAGCTGAGACTGCTCATCTCAGAAGGATGGGGATGCTTGATTTCCTGGCCAGGTTGTCCCAGCACAGTGGGGATTGGCCCTGTTGTATGACGAAGACAGCACATGGTGGCAGAGATAGATACTAACCCATGGACTTTCCAAGGGAGGGAATAGGTCTTTGGAGGGTATGCAAGACAAAGGTAGACACTGGATAAAGAACCCGGTAGTGCCCAGGTATTACCCCATCTGGGCCATTACTCCCACACTCAGGAACCAGACGTTGTGGGTGAGGACATGCTGTCCCTCCTGCCAAGTAATAACTTCCTTCCCAGCCAGGATCCTGCCCCAAGTAGGAATATAGCTCTGCATTTACAGCAGCTCCTGCTCAGACCTTGTCAAAACCACCCTGCAGCTTAGGATTAAGGAGCATGGTCACAGGAAGGTGGGGTTTCAGGGCATCCCCTCAGGAACTGCCCATCTCCCCAGAATTCCAAAATGAAGGTCCATATGCTTGTAGGTGTGCTGGTCATGGTGGGCTTCACAGTAGGAAAGGGTAAGTGGGGCCCAGGGGCAGGGAGGGAGGAAGGGGTAACTGAGTCCAGGAAGGGGGTGGAGCGTGGCCATGGATAATCGGGCTTCCTACTGGCCCAGGGTATTTGAGAGTGACCCAGTGCCTCCATCCCTCCTTCTGCCTCCCCAGTTCCTGTTCCCGACATCCGGACGTGCCACTTCTGCCTCGTAGAAGACCCTTCTGTAGGATGCATTTCAGGCTCAGAGAAGTGTACCATCAGCAGCTCATCCCTGTGCATGGTGATCACCATCTATTATGGTAAATAAGGTCCCAGGAAGGGGCTGCTGGTGGGGCAGCCAATGGCTTGGTCTTCTCTCCTCTCACAGATCAGGGCTGCTCCGGGCATGGGGTACAAGAAGAGAGGAGGGGCTGAGTGCAATGG
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Task1_train_10111
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This variant affects the gene CSNK2B (casein kinase 2 beta) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Neurodevelopmental disorder
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GTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATGTCTAAGAAAAAGATTGCTGTATCTACTTATCCTTAGAAAAGAAAAGCCAAAGCTTTTATGGGAGAGAGTGTAGGTGAACTAGGGAGAGACACAAGTACTTCTGCTGAGTTGGGAGTGAGAAACAAGCACAACAGATGCAGTTGTGTTGATGATAAGGCATCACTTAGAGCATTTTGCCCAGGTCAAAGATGAGGATTTTGATATGGGTTCCCTCTTGGCTTCCATGTCCTGACAGGTGGATGAAGACTACATCCAGGACAAATTTAATCTTACTGGACTCAATGAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTGGTGAGGCACCCTCAGGGTTGTTTTGTGTGTGTGCGTGCACTATTTTTCTCTTCAAATCTCTATTCACTTGCCTGAATTTTGAAATTTCCTTTGGTTCTCTGATTTCTTTAACCCCAAATTCATGCTTTATTTTGATCCTCCACCTGACTCTTGTCTAGTTTTGTGACGTATATCACTTGTTCTCATGTTTTCTAAATCCGCAATTCAGACCTATTCCAAAATGCGTTTCCTCATGGGTCTGGTTTGTTGTCTGTTTCTCCTGCTTTGCACCTTCCAGTCTAGAATTTCATCTTCTGCATTGACATTGTTGCAGTTATGTATTGAGGAGGGAGTTGGGAGGGAGAGCAAGGAGCAGAGGCTGAAAAGGTGTGAAGGGAAGGCAGAGCTGTCTTCGTTTGATGCAAGGGTCAGAAGCCCAGGTTTCTGGGTCCCATGCCCAGATGTTGGATGGGGTAAGGCCCAAAAGTAGGTGCTAGGCAAACTGAATAGCCCGCAGCCCCTGGATATGGGCAGGGCACCTAGGAAAGCTGAAAAACAAGTAGTTGCATTTGGCCGGGCTGTGTTTCAGATGAAGAACTGGAAGACAACCCCAACCAGAGTGACCTGATTGAGCAGGCAGCCGAGATGCTTTATGGATTGATCCACGCCCGCTACATCCTTACCAACCGTGGCATCGCCCAGATGGTGAGGCCTCTCTGCTCCTACCTGCCTCCTTCTGAGCAGTAAGAGACACAGGTTCCTGCAGCAAGAAGTCATGTTTAAGCCCTGTTTAAGGAAGCTAGCTGAGAAGAGGGGAAGAACCCCAGAACTTGGGCCTGGGAATTGAATTCTGATTGGGGGTCATCCTGAAGGGATTGTTTTCAGGGAGGGAGACAGACCTTGAATCAGAGAGTTGTGATAGACTGCCTCTTCCTCAAGGAACAAACAACAAATGGCTCTGATGGTTTGTAGCCTGCCTAATTGGAAGAAAGGCAACACAGAAGTTTGAGAGCCCATCTAGTCCAGAGAAGGGGCCTCTGGACAGAGGTGGGAGGAGTGGGGGACAGAGTGGTATGGGTTGGGCTGCGAAGGGAGTTGCCTCTTCTTTACATCTACCTGCCAACCCCTTCCATTGTATTCACCTCAGTTGGAAAAGTACCAGCAAGGAGACTTTGGTTACTGTCCTCGTGTGTACTGTGAGAACCAGCCAATGCTTCCCATTGGTGAGTGTTGAAGAAGGGAAAGGAAAGCACCGTGTGGCAGTCTTATGGGAAGGAGTTGGGGCTCAACACATTGGAGCCTGAGTCCTGAGGGGAGGTTAGGTAGGAATAGGGGGATACCTGGCCTGCTGAGTCTGGCTGTCTCCCAGGCCTTTCAGACATCCCAGGTGAAGCCATGGTGAAGCTCTACTGCCCCAAGTGCATGGATGTGTACACACCCAAGTCATCAAGACACCATCACACGGATGGCGCCTACTTCGGCACTGGTTTCCCTCACATGCTCTTCATGGTGCATCCCGAGTACCGGCCCAAGAGACCTGCCAACCAGTTTGTGCCCAGGTAGGGAGCAGGGAGAGTCATTAAGGGTCAAAGGAAAGGCCCAAGATCCCCCAGAGAGGGGAGGACAGGGCATGGCCCTTTCTTGAGGTCTGCTTCTCCCAGAATCAGGGCATCTCCCTGCTGAGTGACTGTGGGAAAGTTATTTGATTATCTGTGCTTGAGTTACCTTATTGTAGAATGTTCTTGAGCTGAGAAGTTGGGAACCACGAGGCTTTAGCTCTGAGCAGGTCCATAGAGGAGCTCAGGTGGGGAGGTGGGAATGCAGGTGACTGGCAGGGCCTGGATGGGGCTCATGCTGCTGCCTCTCTGACCTCTGCCCTGGCCTAGGCTCTACGGTTTCAAGATCCATCCGATGGCCTACCAGCTGCAGCTCCAAGCCGCCAGCAACTTCAAGAGCCCAGTCAAGACGATTCGCTGATTCCCTCCCCCACCTGTCCTGCAGTCTTTGACTTTTCCTTTCTTTTTTGCCACCCTTTCAGGAACCCTGTATGGTTTTTAGTTTAAATTAAAGGAGTCGTTATCGTGGTGGGAATATGAAATAAAGTAGAAGAAAAGGCCATGAGCTAGTCTGCTGGTGCTTGCTGTTGGGGAAGGGAAGGTGATGGTGTGTTGGACTCCAGGGGCCCTCATGGCCCAGCCCACCCTCCCCAGATTGAAAACCAGGACAGATTTGTGCTCAGTGGATTGGGTGGTGTTTTTAGTATGGAGCAGAACAGAATTCCTAGGACTGCGTGTGATGAAATGCAAGGTCAAAAGGAAAAGACAAAGCATATTTCAAAGATGAGAAATATTTGTTTGGATATCTATGACTGTCTGTTTATACTGTAAGGGGCTTAATCAGCAGCTCCATCTTTTAGTTTTAGTTCTAAAGGAAAAGTAGCCTAAAGTCAGTATAACTAAAGGGTGGAACGAGGTGGGACAAGGTCCGGAATTGCTGCTCAGTGATGTGTGTGTGCCTGCCGCTGGTGGAGCTGAGACTGCTCATCTCAGAAGGATGGGGATGCTTGATTTCCTGGCCAGGTTGTCCCAGCACAGTGGGGATTGGCCCTGTTGTATGACGAAGACAGCACATGGTGGCAGAGATAGATACTAACCCATGGACTTTCCAAGGGAGGGAATAGGTCTTTGGAGGGTATGCAAGACAAAGGTAGACACTGGATAAAGAACCCGGTAGTGCCCAGGTATTACCCCATCTGGGCCATTACTCCCACACTCAGGAACCAGACGTTGTGGGTGAGGACATGCTGTCCCTCCTGCCAAGTAATAACTTCCTTCCCAGCCAGGATCCTGCCCCAAGTAGGAATATAGCTCTGCATTTACAGCAGCTCCTGCTCAGACCTTGTCAAAACCACCCTGCAGCTTAGGATTAAGGAGCATGGTCACAGGAAGGTGGGGTTTCAGGGCATCCCCTCAGGAACTGCCCATCTCCCCAGAATTCCAAAATGAAGGTCCATATGCTTGTAGGTGTGCTGGTCATGGTGGGCTTCACAGTAGGAAAGGGTAAGTGGGGCCCAGGGGCAGGGAGGGAGGAAGGGGTAACTGAGTCCAGGAAGGGGGTGGAGCGTGGCCATGGATAATCGGGCTTCCTACTGGCCCAGGGTATTTGAGAGTGACCCAGTGCCTCCATCCCTCCTTCTGCCTCCCCAGTTCCTGTTCCCGACATCCGGACGTGCCACTTCTGCCTCGTAGAAGACCCTTCTGTAGGATGCATTTCAGGCTCAGAGAAGTGTACCATCAGCAGCTCATCCCTGTGCATGGTGATCACCATCTATTATGGTAAATAAGGTCCCAGGAAGGGGCTGCTGGTGGGGCAGCCAATGGCTTGGTCTTCTCTCCTCTCACAGATCAGGGCTGCTCCGGGCATGGGGTACAAGAAGAGAGGAGGGGCTGAGTGCAATGG
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GTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATTGCGCCCGGCCTGTATCTTTTGTTACTAAAGTGGCACTGCTAGTACTTGTCTCAGGTGGCCTTTAGGAAAACTGAAATGCTACACATTGAAATGTTTTGTTCAGAAACCATGCTGTTCAGCTTCCACCTTCCTTAGCCAGCTGAGAGGACAAAACTGGTTCCTAGAGACGGGATACAGGAGTGGAGTAGGGACAAAGATCTTGAAAAGAATGTCTAAGAAAAAGATTGCTGTATCTACTTATCCTTAGAAAAGAAAAGCCAAAGCTTTTATGGGAGAGAGTGTAGGTGAACTAGGGAGAGACACAAGTACTTCTGCTGAGTTGGGAGTGAGAAACAAGCACAACAGATGCAGTTGTGTTGATGATAAGGCATCACTTAGAGCATTTTGCCCAGGTCAAAGATGAGGATTTTGATATGGGTTCCCTCTTGGCTTCCATGTCCTGACAGGTGGATGAAGACTACATCCAGGACAAATTTAATCTTACTGGACTCAATGAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTGGTGAGGCACCCTCAGGGTTGTTTTGTGTGTGTGCGTGCACTATTTTTCTCTTCAAATCTCTATTCACTTGCCTGAATTTTGAAATTTCCTTTGGTTCTCTGATTTCTTTAACCCCAAATTCATGCTTTATTTTGATCCTCCACCTGACTCTTGTCTAGTTTTGTGACGTATATCACTTGTTCTCATGTTTTCTAAATCCGCAATTCAGACCTATTCCAAAATGCGTTTCCTCATGGGTCTGGTTTGTTGTCTGTTTCTCCTGCTTTGCACCTTCCAGTCTAGAATTTCATCTTCTGCATTGACATTGTTGCAGTTATGTATTGAGGAGGGAGTTGGGAGGGAGAGCAAGGAGCAGAGGCTGAAAAGGTGTGAAGGGAAGGCAGAGCTGTCTTCGTTTGATGCAAGGGTCAGAAGCCCAGGTTTCTGGGTCCCATGCCCAGATGTTGGATGGGGTAAGGCCCAAAAGTAGGTGCTAGGCAAACTGAATAGCCCGCAGCCCCTGGATATGGGCAGGGCACCTAGGAAAGCTGAAAAACAAGTAGTTGCATTTGGCCGGGCTGTGTTTCAGATGAAGAACTGGAAGACAACCCCAACCAGAGTGACCTGATTGAGCAGGCAGCCGAGATGCTTTATGGATTGATCCACGCCCGCTACATCCTTACCAACCGTGGCATCGCCCAGATGGTGAGGCCTCTCTGCTCCTACCTGCCTCCTTCTGAGCAGTAAGAGACACAGGTTCCTGCAGCAAGAAGTCATGTTTAAGCCCTGTTTAAGGAAGCTAGCTGAGAAGAGGGGAAGAACCCCAGAACTTGGGCCTGGGAATTGAATTCTGATTGGGGGTCATCCTGAAGGGATTGTTTTCAGGGAGGGAGACAGACCTTGAATCAGAGAGTTGTGATAGACTGCCTCTTCCTCAAGGAACAAACAACAAATGGCTCTGATGGTTTGTAGCCTGCCTAATTGGAAGAAAGGCAACACAGAAGTTTGAGAGCCCATCTAGTCCAGAGAAGGGGCCTCTGGACAGAGGTGGGAGGAGTGGGGGACAGAGTGGTATGGGTTGGGCTGCGAAGGGAGTTGCCTCTTCTTTACATCTACCTGCCAACCCCTTCCATTGTATTCACCTCAGTTGGAAAAGTACCAGCAAGGAGACTTTGGTTACTGTCCTCGTGTGTACTGTGAGAACCAGCCAATGCTTCCCATTGGTGAGTGTTGAAGAAGGGAAAGGAAAGCACCGTGTGGCAGTCTTATGGGAAGGAGTTGGGGCTCAACACATTGGAGCCTGAGTCCTGAGGGGAGGTTAGGTAGGAATAGGGGGATACCTGGCCTGCTGAGTCTGGCTGTCTCCCAGGCCTTTCAGACATCCCAGGTGAAGCCATGGTGAAGCTCTACTACCCCAAGTGCATGGATGTGTACACACCCAAGTCATCAAGACACCATCACACGGATGGCGCCTACTTCGGCACTGGTTTCCCTCACATGCTCTTCATGGTGCATCCCGAGTACCGGCCCAAGAGACCTGCCAACCAGTTTGTGCCCAGGTAGGGAGCAGGGAGAGTCATTAAGGGTCAAAGGAAAGGCCCAAGATCCCCCAGAGAGGGGAGGACAGGGCATGGCCCTTTCTTGAGGTCTGCTTCTCCCAGAATCAGGGCATCTCCCTGCTGAGTGACTGTGGGAAAGTTATTTGATTATCTGTGCTTGAGTTACCTTATTGTAGAATGTTCTTGAGCTGAGAAGTTGGGAACCACGAGGCTTTAGCTCTGAGCAGGTCCATAGAGGAGCTCAGGTGGGGAGGTGGGAATGCAGGTGACTGGCAGGGCCTGGATGGGGCTCATGCTGCTGCCTCTCTGACCTCTGCCCTGGCCTAGGCTCTACGGTTTCAAGATCCATCCGATGGCCTACCAGCTGCAGCTCCAAGCCGCCAGCAACTTCAAGAGCCCAGTCAAGACGATTCGCTGATTCCCTCCCCCACCTGTCCTGCAGTCTTTGACTTTTCCTTTCTTTTTTGCCACCCTTTCAGGAACCCTGTATGGTTTTTAGTTTAAATTAAAGGAGTCGTTATCGTGGTGGGAATATGAAATAAAGTAGAAGAAAAGGCCATGAGCTAGTCTGCTGGTGCTTGCTGTTGGGGAAGGGAAGGTGATGGTGTGTTGGACTCCAGGGGCCCTCATGGCCCAGCCCACCCTCCCCAGATTGAAAACCAGGACAGATTTGTGCTCAGTGGATTGGGTGGTGTTTTTAGTATGGAGCAGAACAGAATTCCTAGGACTGCGTGTGATGAAATGCAAGGTCAAAAGGAAAAGACAAAGCATATTTCAAAGATGAGAAATATTTGTTTGGATATCTATGACTGTCTGTTTATACTGTAAGGGGCTTAATCAGCAGCTCCATCTTTTAGTTTTAGTTCTAAAGGAAAAGTAGCCTAAAGTCAGTATAACTAAAGGGTGGAACGAGGTGGGACAAGGTCCGGAATTGCTGCTCAGTGATGTGTGTGTGCCTGCCGCTGGTGGAGCTGAGACTGCTCATCTCAGAAGGATGGGGATGCTTGATTTCCTGGCCAGGTTGTCCCAGCACAGTGGGGATTGGCCCTGTTGTATGACGAAGACAGCACATGGTGGCAGAGATAGATACTAACCCATGGACTTTCCAAGGGAGGGAATAGGTCTTTGGAGGGTATGCAAGACAAAGGTAGACACTGGATAAAGAACCCGGTAGTGCCCAGGTATTACCCCATCTGGGCCATTACTCCCACACTCAGGAACCAGACGTTGTGGGTGAGGACATGCTGTCCCTCCTGCCAAGTAATAACTTCCTTCCCAGCCAGGATCCTGCCCCAAGTAGGAATATAGCTCTGCATTTACAGCAGCTCCTGCTCAGACCTTGTCAAAACCACCCTGCAGCTTAGGATTAAGGAGCATGGTCACAGGAAGGTGGGGTTTCAGGGCATCCCCTCAGGAACTGCCCATCTCCCCAGAATTCCAAAATGAAGGTCCATATGCTTGTAGGTGTGCTGGTCATGGTGGGCTTCACAGTAGGAAAGGGTAAGTGGGGCCCAGGGGCAGGGAGGGAGGAAGGGGTAACTGAGTCCAGGAAGGGGGTGGAGCGTGGCCATGGATAATCGGGCTTCCTACTGGCCCAGGGTATTTGAGAGTGACCCAGTGCCTCCATCCCTCCTTCTGCCTCCCCAGTTCCTGTTCCCGACATCCGGACGTGCCACTTCTGCCTCGTAGAAGACCCTTCTGTAGGATGCATTTCAGGCTCAGAGAAGTGTACCATCAGCAGCTCATCCCTGTGCATGGTGATCACCATCTATTATGGTAAATAAGGTCCCAGGAAGGGGCTGCTGGTGGGGCAGCCAATGGCTTGGTCTTCTCTCCTCTCACAGATCAGGGCTGCTCCGGGCATGGGGTACAAGAAGAGAGGAGGGGCTGAGTGCAATGG
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Task1_train_10112
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This mutation occurs in CSNK2B (casein kinase 2 beta) on Chromosome 6. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Poirier-Bienvenu neurodevelopmental syndrome
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CATCACTTAGAGCATTTTGCCCAGGTCAAAGATGAGGATTTTGATATGGGTTCCCTCTTGGCTTCCATGTCCTGACAGGTGGATGAAGACTACATCCAGGACAAATTTAATCTTACTGGACTCAATGAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTGGTGAGGCACCCTCAGGGTTGTTTTGTGTGTGTGCGTGCACTATTTTTCTCTTCAAATCTCTATTCACTTGCCTGAATTTTGAAATTTCCTTTGGTTCTCTGATTTCTTTAACCCCAAATTCATGCTTTATTTTGATCCTCCACCTGACTCTTGTCTAGTTTTGTGACGTATATCACTTGTTCTCATGTTTTCTAAATCCGCAATTCAGACCTATTCCAAAATGCGTTTCCTCATGGGTCTGGTTTGTTGTCTGTTTCTCCTGCTTTGCACCTTCCAGTCTAGAATTTCATCTTCTGCATTGACATTGTTGCAGTTATGTATTGAGGAGGGAGTTGGGAGGGAGAGCAAGGAGCAGAGGCTGAAAAGGTGTGAAGGGAAGGCAGAGCTGTCTTCGTTTGATGCAAGGGTCAGAAGCCCAGGTTTCTGGGTCCCATGCCCAGATGTTGGATGGGGTAAGGCCCAAAAGTAGGTGCTAGGCAAACTGAATAGCCCGCAGCCCCTGGATATGGGCAGGGCACCTAGGAAAGCTGAAAAACAAGTAGTTGCATTTGGCCGGGCTGTGTTTCAGATGAAGAACTGGAAGACAACCCCAACCAGAGTGACCTGATTGAGCAGGCAGCCGAGATGCTTTATGGATTGATCCACGCCCGCTACATCCTTACCAACCGTGGCATCGCCCAGATGGTGAGGCCTCTCTGCTCCTACCTGCCTCCTTCTGAGCAGTAAGAGACACAGGTTCCTGCAGCAAGAAGTCATGTTTAAGCCCTGTTTAAGGAAGCTAGCTGAGAAGAGGGGAAGAACCCCAGAACTTGGGCCTGGGAATTGAATTCTGATTGGGGGTCATCCTGAAGGGATTGTTTTCAGGGAGGGAGACAGACCTTGAATCAGAGAGTTGTGATAGACTGCCTCTTCCTCAAGGAACAAACAACAAATGGCTCTGATGGTTTGTAGCCTGCCTAATTGGAAGAAAGGCAACACAGAAGTTTGAGAGCCCATCTAGTCCAGAGAAGGGGCCTCTGGACAGAGGTGGGAGGAGTGGGGGACAGAGTGGTATGGGTTGGGCTGCGAAGGGAGTTGCCTCTTCTTTACATCTACCTGCCAACCCCTTCCATTGTATTCACCTCAGTTGGAAAAGTACCAGCAAGGAGACTTTGGTTACTGTCCTCGTGTGTACTGTGAGAACCAGCCAATGCTTCCCATTGGTGAGTGTTGAAGAAGGGAAAGGAAAGCACCGTGTGGCAGTCTTATGGGAAGGAGTTGGGGCTCAACACATTGGAGCCTGAGTCCTGAGGGGAGGTTAGGTAGGAATAGGGGGATACCTGGCCTGCTGAGTCTGGCTGTCTCCCAGGCCTTTCAGACATCCCAGGTGAAGCCATGGTGAAGCTCTACTGCCCCAAGTGCATGGATGTGTACACACCCAAGTCATCAAGACACCATCACACGGATGGCGCCTACTTCGGCACTGGTTTCCCTCACATGCTCTTCATGGTGCATCCCGAGTACCGGCCCAAGAGACCTGCCAACCAGTTTGTGCCCAGGTAGGGAGCAGGGAGAGTCATTAAGGGTCAAAGGAAAGGCCCAAGATCCCCCAGAGAGGGGAGGACAGGGCATGGCCCTTTCTTGAGGTCTGCTTCTCCCAGAATCAGGGCATCTCCCTGCTGAGTGACTGTGGGAAAGTTATTTGATTATCTGTGCTTGAGTTACCTTATTGTAGAATGTTCTTGAGCTGAGAAGTTGGGAACCACGAGGCTTTAGCTCTGAGCAGGTCCATAGAGGAGCTCAGGTGGGGAGGTGGGAATGCAGGTGACTGGCAGGGCCTGGATGGGGCTCATGCTGCTGCCTCTCTGACCTCTGCCCTGGCCTAGGCTCTACGGTTTCAAGATCCATCCGATGGCCTACCAGCTGCAGCTCCAAGCCGCCAGCAACTTCAAGAGCCCAGTCAAGACGATTCGCTGATTCCCTCCCCCACCTGTCCTGCAGTCTTTGACTTTTCCTTTCTTTTTTGCCACCCTTTCAGGAACCCTGTATGGTTTTTAGTTTAAATTAAAGGAGTCGTTATCGTGGTGGGAATATGAAATAAAGTAGAAGAAAAGGCCATGAGCTAGTCTGCTGGTGCTTGCTGTTGGGGAAGGGAAGGTGATGGTGTGTTGGACTCCAGGGGCCCTCATGGCCCAGCCCACCCTCCCCAGATTGAAAACCAGGACAGATTTGTGCTCAGTGGATTGGGTGGTGTTTTTAGTATGGAGCAGAACAGAATTCCTAGGACTGCGTGTGATGAAATGCAAGGTCAAAAGGAAAAGACAAAGCATATTTCAAAGATGAGAAATATTTGTTTGGATATCTATGACTGTCTGTTTATACTGTAAGGGGCTTAATCAGCAGCTCCATCTTTTAGTTTTAGTTCTAAAGGAAAAGTAGCCTAAAGTCAGTATAACTAAAGGGTGGAACGAGGTGGGACAAGGTCCGGAATTGCTGCTCAGTGATGTGTGTGTGCCTGCCGCTGGTGGAGCTGAGACTGCTCATCTCAGAAGGATGGGGATGCTTGATTTCCTGGCCAGGTTGTCCCAGCACAGTGGGGATTGGCCCTGTTGTATGACGAAGACAGCACATGGTGGCAGAGATAGATACTAACCCATGGACTTTCCAAGGGAGGGAATAGGTCTTTGGAGGGTATGCAAGACAAAGGTAGACACTGGATAAAGAACCCGGTAGTGCCCAGGTATTACCCCATCTGGGCCATTACTCCCACACTCAGGAACCAGACGTTGTGGGTGAGGACATGCTGTCCCTCCTGCCAAGTAATAACTTCCTTCCCAGCCAGGATCCTGCCCCAAGTAGGAATATAGCTCTGCATTTACAGCAGCTCCTGCTCAGACCTTGTCAAAACCACCCTGCAGCTTAGGATTAAGGAGCATGGTCACAGGAAGGTGGGGTTTCAGGGCATCCCCTCAGGAACTGCCCATCTCCCCAGAATTCCAAAATGAAGGTCCATATGCTTGTAGGTGTGCTGGTCATGGTGGGCTTCACAGTAGGAAAGGGTAAGTGGGGCCCAGGGGCAGGGAGGGAGGAAGGGGTAACTGAGTCCAGGAAGGGGGTGGAGCGTGGCCATGGATAATCGGGCTTCCTACTGGCCCAGGGTATTTGAGAGTGACCCAGTGCCTCCATCCCTCCTTCTGCCTCCCCAGTTCCTGTTCCCGACATCCGGACGTGCCACTTCTGCCTCGTAGAAGACCCTTCTGTAGGATGCATTTCAGGCTCAGAGAAGTGTACCATCAGCAGCTCATCCCTGTGCATGGTGATCACCATCTATTATGGTAAATAAGGTCCCAGGAAGGGGCTGCTGGTGGGGCAGCCAATGGCTTGGTCTTCTCTCCTCTCACAGATCAGGGCTGCTCCGGGCATGGGGTACAAGAAGAGAGGAGGGGCTGAGTGCAATGGCTCATGCCTGTAACCCTAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTAAGCTCTAGAGTTCAAGACCAGCCTAGGCAACATAGTGAGACCCTGTCTCTACAAAAAAATAGCCAGGCATGGTGGTATGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGATCTCTTAAACTCAGGAGGCATAGGTTGCAGTGAGCCAAGATTGCGCCACCATGCTCCAGCCTGAGTAACAGAGCTAGACCCTGTCTCAAAAAAAACCAGAAGAATCTTGGAAGGAGGGGTCTAAGGTTCTAGGGGGCCAGCAGAGCTCACTTTTCTAGCCTCTTGAAGGACTCTGGGTTAGAAGTAAATTAGGTCTGGGTGAAGGATGGGAAAAGTCAGTAGCAGGGGTTCTTGGACTATGGGAAGCTATTGGAAGGGGTTATCAGCTTTCCCCTCTCCCTCAGATGTCAAGGTTCGCTTCATCGT
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CATCACTTAGAGCATTTTGCCCAGGTCAAAGATGAGGATTTTGATATGGGTTCCCTCTTGGCTTCCATGTCCTGACAGGTGGATGAAGACTACATCCAGGACAAATTTAATCTTACTGGACTCAATGAGCAGGTCCCTCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGCCTGGTGAGGCACCCTCAGGGTTGTTTTGTGTGTGTGCGTGCACTATTTTTCTCTTCAAATCTCTATTCACTTGCCTGAATTTTGAAATTTCCTTTGGTTCTCTGATTTCTTTAACCCCAAATTCATGCTTTATTTTGATCCTCCACCTGACTCTTGTCTAGTTTTGTGACGTATATCACTTGTTCTCATGTTTTCTAAATCCGCAATTCAGACCTATTCCAAAATGCGTTTCCTCATGGGTCTGGTTTGTTGTCTGTTTCTCCTGCTTTGCACCTTCCAGTCTAGAATTTCATCTTCTGCATTGACATTGTTGCAGTTATGTATTGAGGAGGGAGTTGGGAGGGAGAGCAAGGAGCAGAGGCTGAAAAGGTGTGAAGGGAAGGCAGAGCTGTCTTCGTTTGATGCAAGGGTCAGAAGCCCAGGTTTCTGGGTCCCATGCCCAGATGTTGGATGGGGTAAGGCCCAAAAGTAGGTGCTAGGCAAACTGAATAGCCCGCAGCCCCTGGATATGGGCAGGGCACCTAGGAAAGCTGAAAAACAAGTAGTTGCATTTGGCCGGGCTGTGTTTCAGATGAAGAACTGGAAGACAACCCCAACCAGAGTGACCTGATTGAGCAGGCAGCCGAGATGCTTTATGGATTGATCCACGCCCGCTACATCCTTACCAACCGTGGCATCGCCCAGATGGTGAGGCCTCTCTGCTCCTACCTGCCTCCTTCTGAGCAGTAAGAGACACAGGTTCCTGCAGCAAGAAGTCATGTTTAAGCCCTGTTTAAGGAAGCTAGCTGAGAAGAGGGGAAGAACCCCAGAACTTGGGCCTGGGAATTGAATTCTGATTGGGGGTCATCCTGAAGGGATTGTTTTCAGGGAGGGAGACAGACCTTGAATCAGAGAGTTGTGATAGACTGCCTCTTCCTCAAGGAACAAACAACAAATGGCTCTGATGGTTTGTAGCCTGCCTAATTGGAAGAAAGGCAACACAGAAGTTTGAGAGCCCATCTAGTCCAGAGAAGGGGCCTCTGGACAGAGGTGGGAGGAGTGGGGGACAGAGTGGTATGGGTTGGGCTGCGAAGGGAGTTGCCTCTTCTTTACATCTACCTGCCAACCCCTTCCATTGTATTCACCTCAGTTGGAAAAGTACCAGCAAGGAGACTTTGGTTACTGTCCTCGTGTGTACTGTGAGAACCAGCCAATGCTTCCCATTGGTGAGTGTTGAAGAAGGGAAAGGAAAGCACCGTGTGGCAGTCTTATGGGAAGGAGTTGGGGCTCAACACATTGGAGCCTGAGTCCTGAGGGGAGGTTAGGTAGGAATAGGGGGATACCTGGCCTGCTGAGTCTGGCTGTCTCCCAGGCCTTTCAGACATCCCAGGTGAAGCCATGGTGAAGCTCTACTGCCCCAAGTGCATGGATGTGTACACACCCAAGTCATCAAGACACCATCACACGGATGGCGCCTACTTCGGCACTGGTTTCCCTCACATGCTCTTCATGGTGCATCCCGAGTACCGGCCCAAGAGACCTGCCAACCAGTTTGTGCCCAGGTAGGGAGCAGGGAGAGTCATTAAGGGTCAAAGGAAAGGCCCAAGATCCCCCAGAGAGGGGAGGACAGGGCATGGCCCTTTCTTGAGGTCTGCTTCTCCCAGAATCAGGGCATCTCCCTGCTGAGTGACTGTGGGAAAGTTATTTGATTATCTGTGCTTGAGTTACCTTATTGTAGAATGTTCTTGAGCTGAGAAGTTGGGAACCACGAGGCTTTAGCTCTGAGCAGGTCCATAGAGGAGCTCAGGTGGGGAGGTGGGAATGCAGGTGACTGGCAGGGCCTGGATGGGGCTCATGCTGCTGCCTCTCTGACCTCTGCCCTGGCCTAGGCCCTACGGTTTCAAGATCCATCCGATGGCCTACCAGCTGCAGCTCCAAGCCGCCAGCAACTTCAAGAGCCCAGTCAAGACGATTCGCTGATTCCCTCCCCCACCTGTCCTGCAGTCTTTGACTTTTCCTTTCTTTTTTGCCACCCTTTCAGGAACCCTGTATGGTTTTTAGTTTAAATTAAAGGAGTCGTTATCGTGGTGGGAATATGAAATAAAGTAGAAGAAAAGGCCATGAGCTAGTCTGCTGGTGCTTGCTGTTGGGGAAGGGAAGGTGATGGTGTGTTGGACTCCAGGGGCCCTCATGGCCCAGCCCACCCTCCCCAGATTGAAAACCAGGACAGATTTGTGCTCAGTGGATTGGGTGGTGTTTTTAGTATGGAGCAGAACAGAATTCCTAGGACTGCGTGTGATGAAATGCAAGGTCAAAAGGAAAAGACAAAGCATATTTCAAAGATGAGAAATATTTGTTTGGATATCTATGACTGTCTGTTTATACTGTAAGGGGCTTAATCAGCAGCTCCATCTTTTAGTTTTAGTTCTAAAGGAAAAGTAGCCTAAAGTCAGTATAACTAAAGGGTGGAACGAGGTGGGACAAGGTCCGGAATTGCTGCTCAGTGATGTGTGTGTGCCTGCCGCTGGTGGAGCTGAGACTGCTCATCTCAGAAGGATGGGGATGCTTGATTTCCTGGCCAGGTTGTCCCAGCACAGTGGGGATTGGCCCTGTTGTATGACGAAGACAGCACATGGTGGCAGAGATAGATACTAACCCATGGACTTTCCAAGGGAGGGAATAGGTCTTTGGAGGGTATGCAAGACAAAGGTAGACACTGGATAAAGAACCCGGTAGTGCCCAGGTATTACCCCATCTGGGCCATTACTCCCACACTCAGGAACCAGACGTTGTGGGTGAGGACATGCTGTCCCTCCTGCCAAGTAATAACTTCCTTCCCAGCCAGGATCCTGCCCCAAGTAGGAATATAGCTCTGCATTTACAGCAGCTCCTGCTCAGACCTTGTCAAAACCACCCTGCAGCTTAGGATTAAGGAGCATGGTCACAGGAAGGTGGGGTTTCAGGGCATCCCCTCAGGAACTGCCCATCTCCCCAGAATTCCAAAATGAAGGTCCATATGCTTGTAGGTGTGCTGGTCATGGTGGGCTTCACAGTAGGAAAGGGTAAGTGGGGCCCAGGGGCAGGGAGGGAGGAAGGGGTAACTGAGTCCAGGAAGGGGGTGGAGCGTGGCCATGGATAATCGGGCTTCCTACTGGCCCAGGGTATTTGAGAGTGACCCAGTGCCTCCATCCCTCCTTCTGCCTCCCCAGTTCCTGTTCCCGACATCCGGACGTGCCACTTCTGCCTCGTAGAAGACCCTTCTGTAGGATGCATTTCAGGCTCAGAGAAGTGTACCATCAGCAGCTCATCCCTGTGCATGGTGATCACCATCTATTATGGTAAATAAGGTCCCAGGAAGGGGCTGCTGGTGGGGCAGCCAATGGCTTGGTCTTCTCTCCTCTCACAGATCAGGGCTGCTCCGGGCATGGGGTACAAGAAGAGAGGAGGGGCTGAGTGCAATGGCTCATGCCTGTAACCCTAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTAAGCTCTAGAGTTCAAGACCAGCCTAGGCAACATAGTGAGACCCTGTCTCTACAAAAAAATAGCCAGGCATGGTGGTATGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGATCTCTTAAACTCAGGAGGCATAGGTTGCAGTGAGCCAAGATTGCGCCACCATGCTCCAGCCTGAGTAACAGAGCTAGACCCTGTCTCAAAAAAAACCAGAAGAATCTTGGAAGGAGGGGTCTAAGGTTCTAGGGGGCCAGCAGAGCTCACTTTTCTAGCCTCTTGAAGGACTCTGGGTTAGAAGTAAATTAGGTCTGGGTGAAGGATGGGAAAAGTCAGTAGCAGGGGTTCTTGGACTATGGGAAGCTATTGGAAGGGGTTATCAGCTTTCCCCTCTCCCTCAGATGTCAAGGTTCGCTTCATCGT
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Task1_train_10113
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Assess the clinical impact of this variant on gene ABHD16A (abhydrolase domain containing 16A, phospholipase), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Spastic paraplegia 86, autosomal recessive
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GCGAAACCTCATCTTCACTAAAAATACAAAAATCAACTGGGTATGGTGGCGCATACCTGTAATCCCAGCTACTAGAGGGGCTGAGGCTGGAGGATCACTTGAACCTGGGAGGTGGAGGTTGCAGCAAGCTCAGATTGTGCCACTGCACTCCAGCCTGGGCAACATAGTAAGACTCCATCTCCAAAAAAATAAAAAAAACTGCCAGGCAACAAACCAATGGGTGGAAGAGGGATTTATTCACTGTGTTCCACAAGGTCCAAAGTTAGAGATAGATGGCAGTTATAGGGAACCAATTTCCTCAGGTACAACCTAAGCATCTTCTCCTAACAGAGCCGTCCAAAAGGCAAAGTATGGCTCTGAGAAGACATGAGTCCTTGGCACCTGGCCCTCCGTCCCTGGCAGGGCCTGTGTTTGTTGAACTGCAAAAAGGCTGTGAGGACAGAGACTTGATGACATGGCAAGGTGGGTGTGCAGGGTTTGCTGCATAAGACGTGGGGAGCAGGCCCTTCCTCACTCTTCACCAAGATAACAAGAGGTGAGCAATGAAAATTGGGGGTACTGCTAGTAACACCATGCAGGTTGAACCTGGAAACCAGCAGAAGCACTGGGTAGGTGAAATCGGATCCTAGAAAGCTCATGAGCCGTAAGCAGGAGGGGGCAACCATGGGCTCCTGGGGTGGTTGTATGCAGGAAGAACTGAAGAAGGAGGCGGGAGGGGCCAGGGAGGCTGCACAGTTGTGATAACAGTAGGCACATCAGGGACCGGGGAGGTTTGGGGACCTGCTGCCTGAGGAAAGCTCAGGTTAGGGGCTGAAGGCCTAGGGGGACACAGAGATGGGAAGGGTTAGATTAGCTAGATTGTCTAGAGTTAGGGTTTCCCAAAGCCCAGCTCTTTGGGGCCTCTGCTCTCCCCACTACCTGCCCCTGGCTCCCTGGACACTTGAGAAGTTATACAATTAGCCTGATAGTAGAAAAAATACCTTTTTATTAATTATTAGGAATAATCCATTCATGTAATGCAGGATGTATGTTGGAGAAGGTTAAGTACAGCCACATGAATGAGGGGAAACGTGCAAGAGGAACAGTGGTGAGAAGGGGGATGGTCCCCCACTTTCCACAAACTATAAACAGCAACATGAACACAGAGAATCACAAATAAGAGGGTCTTTCCTCATGTCTCCTCTCACCCCATTCTTCCATAATGAGTCCCAGTTGGTCCCTAGAGGTGCCAGGGCATCTGGAAGTTCTGGGCTGGGAGTGGGGTGCAGTGAGTGGCCTCAAAGTTGTGCAGATGCTTCCGAGCCTGAGGAAAGGAGGTGGGACAGGTGGGGTACAGAGCACTGTTGGGAGGGGCAGCCACTGGACTCCCTCCCCACCCTCCACTTCCGCATCCACCACCCACTCTACAAAAGCTGCCACTTCCAATGCTTATAGGGTATCCCCAGTCCCCCTATGTGAGCCCTGGCCATTCAAGAACCCTTCCCACTTCCCACTCCTTAGCTCACCAGAAACAAAGCCAGCTGCCGCCGTCCATCTGCACTCATGTCCTCCCCTGCAGAGAGGAGGCGCTCAAAATAGGCCACACATCTGGGTATTCATCCCCTTCCTAGGCCCTTCCCACCCTCTCTCCTGCCCCAGGAGCTCCTTACCCACGCTCCAGGGGAAGTCGGGCCCGTGTTCTGCCTGGTAGGAGCGGAGGACAGACAGACACCAGTCCTCTTCCACCTCCCATCGGCTATAAATTGAGGCTGGTCAGGGAGAGAGATGACAGCCAGTCAGCAACCTGACCTTGCTGGGCCCCCGCCCCAAGCCTCACTGGATCCCTTCTCACCTTCCTCCAGCTGTGAGGAGGCCTCCAACCACTGCCTCACCACTCGAAGACCCTCCTCTGCCATCACCCGGGGATACCTACGGAGGAAGTGCCAGGACAGGTCAGGGCTGATTTTTTTTCATTCACCATCCCTGAACCTTCCTCCCTCCTTCCCTGTGCTGGTATCAGTATCTGTGTGTGTACACTGCCCCCAGCGCGCACACACCCTGGCTCTCACCGATGCTGCAGGAGCTTCAGCAGGAGGTCATTGCCTCGGTTGGACATGATGTCCTCAGGAACCCTGGGGGTGAGAAGAATGTACCCTGGAGGGGCTGGAGGTTAGGAGGAAGGGTCTAGATACCCAGGTTTCTGGTGGGCAGAGGTAGAAGGGACAAGTTCCTGGCCATCTCTGGGGTTCCTGAGGGCCGAGATTCCCACGCACTCACGTGGTGGTGATGATCTCATCCTTGGTTCTCCGGATCAGCAGTACAGGACCCTGGTATCTTCAGAGAACAGAGCAGTGGGAAGGGAGAGCTCAGAGGGAGACGGGTGACAACTGGCCCACCCCTATCCCTGCACTGGTAGCATTCTTACCCTCCCCTTGCTATAGCACAGCCCTTGACCTAGCCCTTCACTCAGGGGTGAGAGGGGATTATTTAAGGGGCATGGTTCAGTCTGGCCCTGCTGGGAGACCCCTGCCGTGCCAGGCCTTAACCCTTTGGTTGCCAGATCCTGAGGTGGTCCAGAGTCCCAGGGGACCTGGGAGGGGTTAGGCCAGTTGAGGTGGTGGCAGGGTCACTCAGGATGTGAGCCAGTGGCCTTTTACCAACTTGCACTTTAGTACTAGTTTCAGGGTTTGAGCGCCCAGCAGAGCTGTATGGGGGGCAGGTGTTCAATGCCGGACGCTGGCCGGCCCTCACCTGCACAGCTGCTCCGCGTTGTTTAGATTGAGATGCTGCCTCACGGTCCTGGTCACCAGGCCCCCTAGAGTGGGATAAAGGTGAAGGGATGGCAGAGACAAAGCCCTTGCCCAACATAAAGGTCCTCACTATTCACGGAGAAAGAAAACTGAGGCCCCCAGACAAAGGAGTCCTCCTGCTTCCAACAATGGGGCGACTTACTCCCCACCCAAGAAAAGGGAGCCATCTCAGAACAGTTCCCAGTTCCAGCCCACCCCTTCCCAGGAAGGGCAGGCCTGGGAGCTGCACTCACTCCAGCTGTCTGGCATGACCTTCAAGGCCAAGGGCACCAGGTCATCAAAGGAGGCATCCAGGATCATGGCACTAACATCTGGGTAGGACATGGCTGCCCACGTGGCTGGTACCAGGGCAGGGAAGAAGAGTAAGAACTGAGAAAGGCTCCTTTCTCCCCACCACCCATGCTCTCATCCCACTGACCCTATAGGCCAACCCCATTCCCCCTATGTTATCCCTTGTTTTTTTCTTAACCTACTTCACTTGGTTAGGGAACTATCTGGAGAGGATGGGGATAGAACACTGGAGATAGTGCACTGAAGATAATGGGCAGGAAACATTCACTTTCCCTGATCTCCCCACCCAGGACCTGGGTCTGCTTTTCCTTTTAATGACTGGGCACAAGAGGGGAAGGAAAGGTGAAGTGTATGCAAATAGGATAGCTTCTTCCAGGCCCACTCAGAGATTCTACTTCCTCTCTCTTCTTCCTTGAGCCTCCACCCCACCCCATTTCCCCACCTCTCCCGGGTGGGGCTGGGTGGTCATGAATGTGTCTACAGTGGGGGATGGGAGGGAGGCTGGTACCAGTGAAGCCGCCGATGGACCAGGCGTAGATGATGATGTCCTGGGGCTGGAAGCCTAGGCGGTGGATGGCAAACTGGACCACCACATCCATGGCATTAGCCTCATTCTGCGGGAATGGCACCCCCTGCAGGAGAAAGGGCAAAGTCAGGAGTGTGTCAGCACCAAAGGCCAGCTCACCTGTCCCTCCCAACGTGGACCCCTCCTGCAGCCACCTATGACAGGCAGAGAAGGTGTAGAAGGAAGGGATGGTAGGAGAGGTTGTTCTCTCCAGAAGACGGATGTGTACAATGAGATCTACCTCCTCCTCTCCTGCTAGCCCCGCACTGTGGGGATGGGGGCATGGCTCCCAATGCTGCCTTCACAACCTCCTAGACCCCAGCCCTCAGGTGAGTGGGACGCCTTCAAGAAATCCACAGCCCCTCTCCTCCCTCCAATGGCTGACCAGAGGGAAACAGACATAATTCAGGAAAAGGAAGGGATTCCTGAGATGGTCTCACCGTGCTTCCAG
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GCGAAACCTCATCTTCACTAAAAATACAAAAATCAACTGGGTATGGTGGCGCATACCTGTAATCCCAGCTACTAGAGGGGCTGAGGCTGGAGGATCACTTGAACCTGGGAGGTGGAGGTTGCAGCAAGCTCAGATTGTGCCACTGCACTCCAGCCTGGGCAACATAGTAAGACTCCATCTCCAAAAAAATAAAAAAAACTGCCAGGCAACAAACCAATGGGTGGAAGAGGGATTTATTCACTGTGTTCCACAAGGTCCAAAGTTAGAGATAGATGGCAGTTATAGGGAACCAATTTCCTCAGGTACAACCTAAGCATCTTCTCCTAACAGAGCCGTCCAAAAGGCAAAGTATGGCTCTGAGAAGACATGAGTCCTTGGCACCTGGCCCTCCGTCCCTGGCAGGGCCTGTGTTTGTTGAACTGCAAAAAGGCTGTGAGGACAGAGACTTGATGACATGGCAAGGTGGGTGTGCAGGGTTTGCTGCATAAGACGTGGGGAGCAGGCCCTTCCTCACTCTTCACCAAGATAACAAGAGGTGAGCAATGAAAATTGGGGGTACTGCTAGTAACACCATGCAGGTTGAACCTGGAAACCAGCAGAAGCACTGGGTAGGTGAAATCGGATCCTAGAAAGCTCATGAGCCGTAAGCAGGAGGGGGCAACCATGGGCTCCTGGGGTGGTTGTATGCAGGAAGAACTGAAGAAGGAGGCGGGAGGGGCCAGGGAGGCTGCACAGTTGTGATAACAGTAGGCACATCAGGGACCGGGGAGGTTTGGGGACCTGCTGCCTGAGGAAAGCTCAGGTTAGGGGCTGAAGGCCTAGGGGGACACAGAGATGGGAAGGGTTAGATTAGCTAGATTGTCTAGAGTTAGGGTTTCCCAAAGCCCAGCTCTTTGGGGCCTCTGCTCTCCCCACTACCTGCCCCTGGCTCCCTGGACACTTGAGAAGTTATACAATTAGCCTGATAGTAGAAAAAATACCTTTTTATTAATTATTAGGAATAATCCATTCATGTAATGCAGGATGTATGTTGGAGAAGGTTAAGTACAGCCACATGAATGAGGGGAAACGTGCAAGAGGAACAGTGGTGAGAAGGGGGATGGTCCCCCACTTTCCACAAACTATAAACAGCAACATGAACACAGAGAATCACAAATAAGAGGGTCTTTCCTCATGTCTCCTCTCACCCCATTCTTCCATAATGAGTCCCAGTTGGTCCCTAGAGGTGCCAGGGCATCTGGAAGTTCTGGGCTGGGAGTGGGGTGCAGTGAGTGGCCTCAAAGTTGTGCAGATGCTTCCGAGCCTGAGGAAAGGAGGTGGGACAGGTGGGGTACAGAGCACTGTTGGGAGGGGCAGCCACTGGACTCCCTCCCCACCCTCCACTTCCGCATCCACCACCCACTCTACAAAAGCTGCCACTTCCAATGCTTATAGGGTATCCCCAGTCCCCCTATGTGAGCCCTGGCCATTCAAGAACCCTTCCCACTTCCCACTCCTTAGCTCACCAGAAACAAAGCCAGCTGCCGCCGTCCATCTGCACTCATGTCCTCCCCTGCAGAGAGGAGGCGCTCAAAATAGGCCACACATCTGGGTATTCATCCCCTTCCTAGGCCCTTCCCACCCTCTCTCCTGCCCCAGGAGCTCCTTACCCACGCTCCAGGGGAAGTCGGGCCCGTGTTCTGCCTGGTAGGAGCGGAGGACAGACAGACACCAGTCCTCTTCCACCTCCCATCGGCTATAAATTGAGGCTGGTCAGGGAGAGAGATGACAGCCAGTCAGCAACCTGACCTTGCTGGGCCCCCGCCCCAAGCCTCACTGGATCCCTTCTCACCTTCCTCCAGCTGTGAGGAGGCCTCCAACCACTGCCTCACCACTCGAAGACCCTCCTCTGCCATCACCCGGGGATACCTACGGAGGAAGTGCCAGGACAGGTCAGGGCTGATTTTTTTTCATTCACCATCCCTGAACCTTCCTCCCTCCTTCCCTGTGCTGGTATCAGTATCTGTGTGTGTACACTGCCCCCAGCGCGCACACACCCTGGCTCTCACTGATGCTGCAGGAGCTTCAGCAGGAGGTCATTGCCTCGGTTGGACATGATGTCCTCAGGAACCCTGGGGGTGAGAAGAATGTACCCTGGAGGGGCTGGAGGTTAGGAGGAAGGGTCTAGATACCCAGGTTTCTGGTGGGCAGAGGTAGAAGGGACAAGTTCCTGGCCATCTCTGGGGTTCCTGAGGGCCGAGATTCCCACGCACTCACGTGGTGGTGATGATCTCATCCTTGGTTCTCCGGATCAGCAGTACAGGACCCTGGTATCTTCAGAGAACAGAGCAGTGGGAAGGGAGAGCTCAGAGGGAGACGGGTGACAACTGGCCCACCCCTATCCCTGCACTGGTAGCATTCTTACCCTCCCCTTGCTATAGCACAGCCCTTGACCTAGCCCTTCACTCAGGGGTGAGAGGGGATTATTTAAGGGGCATGGTTCAGTCTGGCCCTGCTGGGAGACCCCTGCCGTGCCAGGCCTTAACCCTTTGGTTGCCAGATCCTGAGGTGGTCCAGAGTCCCAGGGGACCTGGGAGGGGTTAGGCCAGTTGAGGTGGTGGCAGGGTCACTCAGGATGTGAGCCAGTGGCCTTTTACCAACTTGCACTTTAGTACTAGTTTCAGGGTTTGAGCGCCCAGCAGAGCTGTATGGGGGGCAGGTGTTCAATGCCGGACGCTGGCCGGCCCTCACCTGCACAGCTGCTCCGCGTTGTTTAGATTGAGATGCTGCCTCACGGTCCTGGTCACCAGGCCCCCTAGAGTGGGATAAAGGTGAAGGGATGGCAGAGACAAAGCCCTTGCCCAACATAAAGGTCCTCACTATTCACGGAGAAAGAAAACTGAGGCCCCCAGACAAAGGAGTCCTCCTGCTTCCAACAATGGGGCGACTTACTCCCCACCCAAGAAAAGGGAGCCATCTCAGAACAGTTCCCAGTTCCAGCCCACCCCTTCCCAGGAAGGGCAGGCCTGGGAGCTGCACTCACTCCAGCTGTCTGGCATGACCTTCAAGGCCAAGGGCACCAGGTCATCAAAGGAGGCATCCAGGATCATGGCACTAACATCTGGGTAGGACATGGCTGCCCACGTGGCTGGTACCAGGGCAGGGAAGAAGAGTAAGAACTGAGAAAGGCTCCTTTCTCCCCACCACCCATGCTCTCATCCCACTGACCCTATAGGCCAACCCCATTCCCCCTATGTTATCCCTTGTTTTTTTCTTAACCTACTTCACTTGGTTAGGGAACTATCTGGAGAGGATGGGGATAGAACACTGGAGATAGTGCACTGAAGATAATGGGCAGGAAACATTCACTTTCCCTGATCTCCCCACCCAGGACCTGGGTCTGCTTTTCCTTTTAATGACTGGGCACAAGAGGGGAAGGAAAGGTGAAGTGTATGCAAATAGGATAGCTTCTTCCAGGCCCACTCAGAGATTCTACTTCCTCTCTCTTCTTCCTTGAGCCTCCACCCCACCCCATTTCCCCACCTCTCCCGGGTGGGGCTGGGTGGTCATGAATGTGTCTACAGTGGGGGATGGGAGGGAGGCTGGTACCAGTGAAGCCGCCGATGGACCAGGCGTAGATGATGATGTCCTGGGGCTGGAAGCCTAGGCGGTGGATGGCAAACTGGACCACCACATCCATGGCATTAGCCTCATTCTGCGGGAATGGCACCCCCTGCAGGAGAAAGGGCAAAGTCAGGAGTGTGTCAGCACCAAAGGCCAGCTCACCTGTCCCTCCCAACGTGGACCCCTCCTGCAGCCACCTATGACAGGCAGAGAAGGTGTAGAAGGAAGGGATGGTAGGAGAGGTTGTTCTCTCCAGAAGACGGATGTGTACAATGAGATCTACCTCCTCCTCTCCTGCTAGCCCCGCACTGTGGGGATGGGGGCATGGCTCCCAATGCTGCCTTCACAACCTCCTAGACCCCAGCCCTCAGGTGAGTGGGACGCCTTCAAGAAATCCACAGCCCCTCTCCTCCCTCCAATGGCTGACCAGAGGGAAACAGACATAATTCAGGAAAAGGAAGGGATTCCTGAGATGGTCTCACCGTGCTTCCAG
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Task1_train_10114
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A mutation found in ABHD16A (abhydrolase domain containing 16A, phospholipase) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Complex hereditary spastic paraplegia
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GCGAAACCTCATCTTCACTAAAAATACAAAAATCAACTGGGTATGGTGGCGCATACCTGTAATCCCAGCTACTAGAGGGGCTGAGGCTGGAGGATCACTTGAACCTGGGAGGTGGAGGTTGCAGCAAGCTCAGATTGTGCCACTGCACTCCAGCCTGGGCAACATAGTAAGACTCCATCTCCAAAAAAATAAAAAAAACTGCCAGGCAACAAACCAATGGGTGGAAGAGGGATTTATTCACTGTGTTCCACAAGGTCCAAAGTTAGAGATAGATGGCAGTTATAGGGAACCAATTTCCTCAGGTACAACCTAAGCATCTTCTCCTAACAGAGCCGTCCAAAAGGCAAAGTATGGCTCTGAGAAGACATGAGTCCTTGGCACCTGGCCCTCCGTCCCTGGCAGGGCCTGTGTTTGTTGAACTGCAAAAAGGCTGTGAGGACAGAGACTTGATGACATGGCAAGGTGGGTGTGCAGGGTTTGCTGCATAAGACGTGGGGAGCAGGCCCTTCCTCACTCTTCACCAAGATAACAAGAGGTGAGCAATGAAAATTGGGGGTACTGCTAGTAACACCATGCAGGTTGAACCTGGAAACCAGCAGAAGCACTGGGTAGGTGAAATCGGATCCTAGAAAGCTCATGAGCCGTAAGCAGGAGGGGGCAACCATGGGCTCCTGGGGTGGTTGTATGCAGGAAGAACTGAAGAAGGAGGCGGGAGGGGCCAGGGAGGCTGCACAGTTGTGATAACAGTAGGCACATCAGGGACCGGGGAGGTTTGGGGACCTGCTGCCTGAGGAAAGCTCAGGTTAGGGGCTGAAGGCCTAGGGGGACACAGAGATGGGAAGGGTTAGATTAGCTAGATTGTCTAGAGTTAGGGTTTCCCAAAGCCCAGCTCTTTGGGGCCTCTGCTCTCCCCACTACCTGCCCCTGGCTCCCTGGACACTTGAGAAGTTATACAATTAGCCTGATAGTAGAAAAAATACCTTTTTATTAATTATTAGGAATAATCCATTCATGTAATGCAGGATGTATGTTGGAGAAGGTTAAGTACAGCCACATGAATGAGGGGAAACGTGCAAGAGGAACAGTGGTGAGAAGGGGGATGGTCCCCCACTTTCCACAAACTATAAACAGCAACATGAACACAGAGAATCACAAATAAGAGGGTCTTTCCTCATGTCTCCTCTCACCCCATTCTTCCATAATGAGTCCCAGTTGGTCCCTAGAGGTGCCAGGGCATCTGGAAGTTCTGGGCTGGGAGTGGGGTGCAGTGAGTGGCCTCAAAGTTGTGCAGATGCTTCCGAGCCTGAGGAAAGGAGGTGGGACAGGTGGGGTACAGAGCACTGTTGGGAGGGGCAGCCACTGGACTCCCTCCCCACCCTCCACTTCCGCATCCACCACCCACTCTACAAAAGCTGCCACTTCCAATGCTTATAGGGTATCCCCAGTCCCCCTATGTGAGCCCTGGCCATTCAAGAACCCTTCCCACTTCCCACTCCTTAGCTCACCAGAAACAAAGCCAGCTGCCGCCGTCCATCTGCACTCATGTCCTCCCCTGCAGAGAGGAGGCGCTCAAAATAGGCCACACATCTGGGTATTCATCCCCTTCCTAGGCCCTTCCCACCCTCTCTCCTGCCCCAGGAGCTCCTTACCCACGCTCCAGGGGAAGTCGGGCCCGTGTTCTGCCTGGTAGGAGCGGAGGACAGACAGACACCAGTCCTCTTCCACCTCCCATCGGCTATAAATTGAGGCTGGTCAGGGAGAGAGATGACAGCCAGTCAGCAACCTGACCTTGCTGGGCCCCCGCCCCAAGCCTCACTGGATCCCTTCTCACCTTCCTCCAGCTGTGAGGAGGCCTCCAACCACTGCCTCACCACTCGAAGACCCTCCTCTGCCATCACCCGGGGATACCTACGGAGGAAGTGCCAGGACAGGTCAGGGCTGATTTTTTTTCATTCACCATCCCTGAACCTTCCTCCCTCCTTCCCTGTGCTGGTATCAGTATCTGTGTGTGTACACTGCCCCCAGCGCGCACACACCCTGGCTCTCACCGATGCTGCAGGAGCTTCAGCAGGAGGTCATTGCCTCGGTTGGACATGATGTCCTCAGGAACCCTGGGGGTGAGAAGAATGTACCCTGGAGGGGCTGGAGGTTAGGAGGAAGGGTCTAGATACCCAGGTTTCTGGTGGGCAGAGGTAGAAGGGACAAGTTCCTGGCCATCTCTGGGGTTCCTGAGGGCCGAGATTCCCACGCACTCACGTGGTGGTGATGATCTCATCCTTGGTTCTCCGGATCAGCAGTACAGGACCCTGGTATCTTCAGAGAACAGAGCAGTGGGAAGGGAGAGCTCAGAGGGAGACGGGTGACAACTGGCCCACCCCTATCCCTGCACTGGTAGCATTCTTACCCTCCCCTTGCTATAGCACAGCCCTTGACCTAGCCCTTCACTCAGGGGTGAGAGGGGATTATTTAAGGGGCATGGTTCAGTCTGGCCCTGCTGGGAGACCCCTGCCGTGCCAGGCCTTAACCCTTTGGTTGCCAGATCCTGAGGTGGTCCAGAGTCCCAGGGGACCTGGGAGGGGTTAGGCCAGTTGAGGTGGTGGCAGGGTCACTCAGGATGTGAGCCAGTGGCCTTTTACCAACTTGCACTTTAGTACTAGTTTCAGGGTTTGAGCGCCCAGCAGAGCTGTATGGGGGGCAGGTGTTCAATGCCGGACGCTGGCCGGCCCTCACCTGCACAGCTGCTCCGCGTTGTTTAGATTGAGATGCTGCCTCACGGTCCTGGTCACCAGGCCCCCTAGAGTGGGATAAAGGTGAAGGGATGGCAGAGACAAAGCCCTTGCCCAACATAAAGGTCCTCACTATTCACGGAGAAAGAAAACTGAGGCCCCCAGACAAAGGAGTCCTCCTGCTTCCAACAATGGGGCGACTTACTCCCCACCCAAGAAAAGGGAGCCATCTCAGAACAGTTCCCAGTTCCAGCCCACCCCTTCCCAGGAAGGGCAGGCCTGGGAGCTGCACTCACTCCAGCTGTCTGGCATGACCTTCAAGGCCAAGGGCACCAGGTCATCAAAGGAGGCATCCAGGATCATGGCACTAACATCTGGGTAGGACATGGCTGCCCACGTGGCTGGTACCAGGGCAGGGAAGAAGAGTAAGAACTGAGAAAGGCTCCTTTCTCCCCACCACCCATGCTCTCATCCCACTGACCCTATAGGCCAACCCCATTCCCCCTATGTTATCCCTTGTTTTTTTCTTAACCTACTTCACTTGGTTAGGGAACTATCTGGAGAGGATGGGGATAGAACACTGGAGATAGTGCACTGAAGATAATGGGCAGGAAACATTCACTTTCCCTGATCTCCCCACCCAGGACCTGGGTCTGCTTTTCCTTTTAATGACTGGGCACAAGAGGGGAAGGAAAGGTGAAGTGTATGCAAATAGGATAGCTTCTTCCAGGCCCACTCAGAGATTCTACTTCCTCTCTCTTCTTCCTTGAGCCTCCACCCCACCCCATTTCCCCACCTCTCCCGGGTGGGGCTGGGTGGTCATGAATGTGTCTACAGTGGGGGATGGGAGGGAGGCTGGTACCAGTGAAGCCGCCGATGGACCAGGCGTAGATGATGATGTCCTGGGGCTGGAAGCCTAGGCGGTGGATGGCAAACTGGACCACCACATCCATGGCATTAGCCTCATTCTGCGGGAATGGCACCCCCTGCAGGAGAAAGGGCAAAGTCAGGAGTGTGTCAGCACCAAAGGCCAGCTCACCTGTCCCTCCCAACGTGGACCCCTCCTGCAGCCACCTATGACAGGCAGAGAAGGTGTAGAAGGAAGGGATGGTAGGAGAGGTTGTTCTCTCCAGAAGACGGATGTGTACAATGAGATCTACCTCCTCCTCTCCTGCTAGCCCCGCACTGTGGGGATGGGGGCATGGCTCCCAATGCTGCCTTCACAACCTCCTAGACCCCAGCCCTCAGGTGAGTGGGACGCCTTCAAGAAATCCACAGCCCCTCTCCTCCCTCCAATGGCTGACCAGAGGGAAACAGACATAATTCAGGAAAAGGAAGGGATTCCTGAGATGGTCTCACCGTGCTTCCAG
|
GCGAAACCTCATCTTCACTAAAAATACAAAAATCAACTGGGTATGGTGGCGCATACCTGTAATCCCAGCTACTAGAGGGGCTGAGGCTGGAGGATCACTTGAACCTGGGAGGTGGAGGTTGCAGCAAGCTCAGATTGTGCCACTGCACTCCAGCCTGGGCAACATAGTAAGACTCCATCTCCAAAAAAATAAAAAAAACTGCCAGGCAACAAACCAATGGGTGGAAGAGGGATTTATTCACTGTGTTCCACAAGGTCCAAAGTTAGAGATAGATGGCAGTTATAGGGAACCAATTTCCTCAGGTACAACCTAAGCATCTTCTCCTAACAGAGCCGTCCAAAAGGCAAAGTATGGCTCTGAGAAGACATGAGTCCTTGGCACCTGGCCCTCCGTCCCTGGCAGGGCCTGTGTTTGTTGAACTGCAAAAAGGCTGTGAGGACAGAGACTTGATGACATGGCAAGGTGGGTGTGCAGGGTTTGCTGCATAAGACGTGGGGAGCAGGCCCTTCCTCACTCTTCACCAAGATAACAAGAGGTGAGCAATGAAAATTGGGGGTACTGCTAGTAACACCATGCAGGTTGAACCTGGAAACCAGCAGAAGCACTGGGTAGGTGAAATCGGATCCTAGAAAGCTCATGAGCCGTAAGCAGGAGGGGGCAACCATGGGCTCCTGGGGTGGTTGTATGCAGGAAGAACTGAAGAAGGAGGCGGGAGGGGCCAGGGAGGCTGCACAGTTGTGATAACAGTAGGCACATCAGGGACCGGGGAGGTTTGGGGACCTGCTGCCTGAGGAAAGCTCAGGTTAGGGGCTGAAGGCCTAGGGGGACACAGAGATGGGAAGGGTTAGATTAGCTAGATTGTCTAGAGTTAGGGTTTCCCAAAGCCCAGCTCTTTGGGGCCTCTGCTCTCCCCACTACCTGCCCCTGGCTCCCTGGACACTTGAGAAGTTATACAATTAGCCTGATAGTAGAAAAAATACCTTTTTATTAATTATTAGGAATAATCCATTCATGTAATGCAGGATGTATGTTGGAGAAGGTTAAGTACAGCCACATGAATGAGGGGAAACGTGCAAGAGGAACAGTGGTGAGAAGGGGGATGGTCCCCCACTTTCCACAAACTATAAACAGCAACATGAACACAGAGAATCACAAATAAGAGGGTCTTTCCTCATGTCTCCTCTCACCCCATTCTTCCATAATGAGTCCCAGTTGGTCCCTAGAGGTGCCAGGGCATCTGGAAGTTCTGGGCTGGGAGTGGGGTGCAGTGAGTGGCCTCAAAGTTGTGCAGATGCTTCCGAGCCTGAGGAAAGGAGGTGGGACAGGTGGGGTACAGAGCACTGTTGGGAGGGGCAGCCACTGGACTCCCTCCCCACCCTCCACTTCCGCATCCACCACCCACTCTACAAAAGCTGCCACTTCCAATGCTTATAGGGTATCCCCAGTCCCCCTATGTGAGCCCTGGCCATTCAAGAACCCTTCCCACTTCCCACTCCTTAGCTCACCAGAAACAAAGCCAGCTGCCGCCGTCCATCTGCACTCATGTCCTCCCCTGCAGAGAGGAGGCGCTCAAAATAGGCCACACATCTGGGTATTCATCCCCTTCCTAGGCCCTTCCCACCCTCTCTCCTGCCCCAGGAGCTCCTTACCCACGCTCCAGGGGAAGTCGGGCCCGTGTTCTGCCTGGTAGGAGCGGAGGACAGACAGACACCAGTCCTCTTCCACCTCCCATCGGCTATAAATTGAGGCTGGTCAGGGAGAGAGATGACAGCCAGTCAGCAACCTGACCTTGCTGGGCCCCCGCCCCAAGCCTCACTGGATCCCTTCTCACCTTCCTCCAGCTGTGAGGAGGCCTCCAACCACTGCCTCACCACTCGAAGACCCTCCTCTGCCATCACCCGGGGATACCTACGGAGGAAGTGCCAGGACAGGTCAGGGCTGATTTTTTTTCATTCACCATCCCTGAACCTTCCTCCCTCCTTCCCTGTGCTGGTATCAGTATCTGTGTGTGTACACTGCCCCCAGCGCGCACACACCCTGGCTCTCACTGATGCTGCAGGAGCTTCAGCAGGAGGTCATTGCCTCGGTTGGACATGATGTCCTCAGGAACCCTGGGGGTGAGAAGAATGTACCCTGGAGGGGCTGGAGGTTAGGAGGAAGGGTCTAGATACCCAGGTTTCTGGTGGGCAGAGGTAGAAGGGACAAGTTCCTGGCCATCTCTGGGGTTCCTGAGGGCCGAGATTCCCACGCACTCACGTGGTGGTGATGATCTCATCCTTGGTTCTCCGGATCAGCAGTACAGGACCCTGGTATCTTCAGAGAACAGAGCAGTGGGAAGGGAGAGCTCAGAGGGAGACGGGTGACAACTGGCCCACCCCTATCCCTGCACTGGTAGCATTCTTACCCTCCCCTTGCTATAGCACAGCCCTTGACCTAGCCCTTCACTCAGGGGTGAGAGGGGATTATTTAAGGGGCATGGTTCAGTCTGGCCCTGCTGGGAGACCCCTGCCGTGCCAGGCCTTAACCCTTTGGTTGCCAGATCCTGAGGTGGTCCAGAGTCCCAGGGGACCTGGGAGGGGTTAGGCCAGTTGAGGTGGTGGCAGGGTCACTCAGGATGTGAGCCAGTGGCCTTTTACCAACTTGCACTTTAGTACTAGTTTCAGGGTTTGAGCGCCCAGCAGAGCTGTATGGGGGGCAGGTGTTCAATGCCGGACGCTGGCCGGCCCTCACCTGCACAGCTGCTCCGCGTTGTTTAGATTGAGATGCTGCCTCACGGTCCTGGTCACCAGGCCCCCTAGAGTGGGATAAAGGTGAAGGGATGGCAGAGACAAAGCCCTTGCCCAACATAAAGGTCCTCACTATTCACGGAGAAAGAAAACTGAGGCCCCCAGACAAAGGAGTCCTCCTGCTTCCAACAATGGGGCGACTTACTCCCCACCCAAGAAAAGGGAGCCATCTCAGAACAGTTCCCAGTTCCAGCCCACCCCTTCCCAGGAAGGGCAGGCCTGGGAGCTGCACTCACTCCAGCTGTCTGGCATGACCTTCAAGGCCAAGGGCACCAGGTCATCAAAGGAGGCATCCAGGATCATGGCACTAACATCTGGGTAGGACATGGCTGCCCACGTGGCTGGTACCAGGGCAGGGAAGAAGAGTAAGAACTGAGAAAGGCTCCTTTCTCCCCACCACCCATGCTCTCATCCCACTGACCCTATAGGCCAACCCCATTCCCCCTATGTTATCCCTTGTTTTTTTCTTAACCTACTTCACTTGGTTAGGGAACTATCTGGAGAGGATGGGGATAGAACACTGGAGATAGTGCACTGAAGATAATGGGCAGGAAACATTCACTTTCCCTGATCTCCCCACCCAGGACCTGGGTCTGCTTTTCCTTTTAATGACTGGGCACAAGAGGGGAAGGAAAGGTGAAGTGTATGCAAATAGGATAGCTTCTTCCAGGCCCACTCAGAGATTCTACTTCCTCTCTCTTCTTCCTTGAGCCTCCACCCCACCCCATTTCCCCACCTCTCCCGGGTGGGGCTGGGTGGTCATGAATGTGTCTACAGTGGGGGATGGGAGGGAGGCTGGTACCAGTGAAGCCGCCGATGGACCAGGCGTAGATGATGATGTCCTGGGGCTGGAAGCCTAGGCGGTGGATGGCAAACTGGACCACCACATCCATGGCATTAGCCTCATTCTGCGGGAATGGCACCCCCTGCAGGAGAAAGGGCAAAGTCAGGAGTGTGTCAGCACCAAAGGCCAGCTCACCTGTCCCTCCCAACGTGGACCCCTCCTGCAGCCACCTATGACAGGCAGAGAAGGTGTAGAAGGAAGGGATGGTAGGAGAGGTTGTTCTCTCCAGAAGACGGATGTGTACAATGAGATCTACCTCCTCCTCTCCTGCTAGCCCCGCACTGTGGGGATGGGGGCATGGCTCCCAATGCTGCCTTCACAACCTCCTAGACCCCAGCCCTCAGGTGAGTGGGACGCCTTCAAGAAATCCACAGCCCCTCTCCTCCCTCCAATGGCTGACCAGAGGGAAACAGACATAATTCAGGAAAAGGAAGGGATTCCTGAGATGGTCTCACCGTGCTTCCAG
|
Task1_train_10115
|
A genetic alteration is present in MSH5, MSH5-SAPCD1 (mutS homolog 5| MSH5-SAPCD1 readthrough (NMD candidate)) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Spermatogenic failure 74
|
AAATCTATTATTCATTTATTTATTTATTTATTTAGTTTGAGGTGAGTCTCCCTCTGTCGCCAGGCTGAAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTACACCCAGCCATCTATTAATTCTTTAGCAATTACAAAGTAGTAGCATTTAAATCTCTGATTCTTTCTTCATTTATTAGCCAGAAATTTCTGTAAAGAGAAACTTCCTTTTATGTACTATTTGGTTGCCAAGTGATAGAAATCATATAGAAATACAGAAAATTGCTTGATATTTCCCCCACTCTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTGGGTTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGATGGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCTTTTTTTTTTCCCCAATATGGAACGCTTCTTGAATTTGTGTCATCCGTGCCCAGTGGCCGTGCTAATCCCTGTAACCTTCGAAATTTCAGTATATGTGCTGCAGAAATGAGCACCCCCCACCTTTATTTACTAGCTATCAATATGGTAAATTAGTTCCCTAACATTCTCCAAGATAGCCATGAGATTTTTTTGTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGAGATGGAGTCTTGCACTGTTGCCCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCGCGCCATTCTCCTACCTCAGCCTCCTGAGTGCCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGAGACAGGGTTTCACCCTCTTAACCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCTGATAGCCGATGAGGTTTTTTTGTCATTGTTCTTCTTGTATCATTACAGACTCATGGCCTTTTATAGCTATATTTCTCTTTCTCCCGACTCTGTACAAACTCCTTTGTTTTAGAGTTTGCACAACCCTCTATCAAAGCACCTACCACCTCACTTTTAAATCTTCTGCATGTATTTCTGTCTTCCTTCCTAGACTGTGAGCACATCTGGGACAGGGACCATATCTTTTTTTGTTTATTTGTTTTGTTTTGAGACAGAGTCTCGCTCTGTCGGCCAGGCTGGAGTGCAATGGCGTGATCTGGCTATAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACATGTGCATGCCACCAAGCCCAGTTAATTTTTGTATTTTGAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGATCTCGAACTCCTGACCTCAGGTGATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCAGGACCATATCTTAATTGTCTTTGTAGTTTCAGTGTTTGGTACAGTGCCTCTCACTGTTTCTTTTTGCCTTTGAGATCTTCCCTCTTTGTTACTGTGATCTTCCCTACTGGTCTTTGTTCTTCTGAGTCTGTCCCTATCACCACCTCAACCCGAGCTGGATGTGGCCTGTCCTCCTTTTTGTGTTTCTCTCACAGACTGTGTACAGTGCCCTGGGCCTGAGGGATGCCTGCCGCTCCCTGCCGCAGTCCATCCAGCTCTTTCGGGACATTGCCCAAGAGTTCTCTGATGACCTGCACCATATCGCCAGCCTCATTGGGAAAGTAGTGAGTAGAAGGAAAAAGGGAGTGCACCCAGGGAGGTCAGGGAGAGAGAATGCAGTGTGCAAGATGGGGAAACATGGAAGATATTGAGGTCAATTGGATAAAGAATGGGATGGTGGGAGGAGGCAGCAGAACTTCAGGGAAGTATCTGGAGGGTGAGAGTTAAAGGAGGACTGCAGGGAGAATTGGGGCCCAAGGAGAGCTGAGGAACAGGACAGAGGGTGCCAGGTCCTAAGAAACAGTACTTATCTCCTCAGGTGGACTTTGAGGGCAGCCTTGCTGAAAATCGCTTCACAGTCCTCCCCAACATAGATCCTGAAATTGATGAGAGTGAGTGTTGGGTGTGGATGGGCCTGTGAGCCCTGCGCAGTGATGGAGTACCATCCTTGGCAGGTGGTCACCACAGCTGGGGATCTTCATAGCAACCAGGGCAGGAGACTCACTTTTGATAACCACGTGTCTTCCACCCTCGTAGAAAAGCGAAGACTGATGGGACTTCCCAGTTTCCTTACTGAGGTTGCCCGCAAGGAGCTGGAGAATCTGGACTCCCGTATTCCTTCATGCAGTGTCATCTACATCCCTCTGGTGAGGGCAGGAGAGTGGGTGTAGCCTTCAGATGTCTTTTGGGGGAGATATTAGGCTTATGAAAGACATACTGGTAGATAAGAAAACTTGTGGGGCAGCCTGAAGAACATGAACACTTTTTTGTGGGGATACAGGGATCTTTTAAGCTCCCTCTAGGGTGGGGAGGTGTCCAGTAAGTCTCCAAGCAGGAGAGTAGAGTATCTCCTCTTTACTCTCCCCAGATTGGCTTCCTTCTTTCTATTCCCCGCCTGCCTTCCATGGTAGAGGCCAGTGACTTTGAGATTAATGGACTGGACTTCATGGTAAGACCCTCAACCTCTGTAAGGTGAGTGATGAGGAAAATGAGTCAGCAGCTGAGGAAGAGCGTTACTCTACAGCAGCACTGCCCAATATGGGATCTCTCCTCTGTAGTTTTACTCTGAGCTTTACCAGCACTGAGACAAAGGAAAGAGAAGTCAGAGTTAGGGGCTGGAGGTGGGGTTAGAAAGATGGGGAAGGAGAGGAGGACCAAGAGATGCAAAGTCCACAGCTTTGAACCCCTGTACCCAGTTTCTCTCAGAGGAGAAGCTGCACTATCGTAGTGCCCGAACCAAGGAGCTGGATGCATTGCTGGGGGACCTGCACTGCGAGATCCGGGGTGAGGAAAAGCCAGAGGTTATATGCATTGTAAGATGTTTAAAAAAAGCAGCAGCCAGGGGAAGGAGGGGAGTGGGCAACTTGGGGATGCTTCCAACAGGCCCCTCCTCTTCCTGCTCTCTGTCTCGCTCACTCTGACTCTATCTTTTCCTCTGAATGTCTTGAGGTCTCAGATTGTATCTGCAACCTGTTTCCAGATCCCCCTAGGGGCCTCTGCCTCTCCTTCACTTTCCCCTGGAACTGACCTCCAGCTCCCTTCCTCACCCACTCCCAGACCAGGAGACGCTGCTGATGTACCAGCTACAGTGCCAGGTGCTGGCACGAGCAGCTGTCTTAACCCGAGTATTGGACCTTGCCTCCCGCCTGGACGTCCTGCTGGCTCTTGCCAGTGCTGCCCGGGACTATGGCTACTCAAGGCCGCGTTACTCCCCACAAGTCCTTGGGGTACGAATCCAGAATGGCAGGTAAGAATAGAGGCGGGTGGAGGAATAGACATGAGGGGCCCAAAGGCTACATCTTCTGGGGGTTCATCTATCTTGATCCACAAGCCATGCGAGGTGCCTCTCCGCCCACTGCAGACATCCTCTGATGGAACTCTGTGCCCGAACCTTTGTGCCCAACTCCACAGAATGTGGTGGGGACAAAGGGAGGGTCAAAGTCATCACTGGACCCAACTCATCAGGGAAGAGCATATACCTCAAACAGGTGAGGAGAAGCCCTGCAGCCTGGGCCTCTGG
|
AAATCTATTATTCATTTATTTATTTATTTATTTAGTTTGAGGTGAGTCTCCCTCTGTCGCCAGGCTGAAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTACACCCAGCCATCTATTAATTCTTTAGCAATTACAAAGTAGTAGCATTTAAATCTCTGATTCTTTCTTCATTTATTAGCCAGAAATTTCTGTAAAGAGAAACTTCCTTTTATGTACTATTTGGTTGCCAAGTGATAGAAATCATATAGAAATACAGAAAATTGCTTGATATTTCCCCCACTCTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTGGGTTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGATGGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCTTTTTTTTTTCCCCAATATGGAACGCTTCTTGAATTTGTGTCATCCGTGCCCAGTGGCCGTGCTAATCCCTGTAACCTTCGAAATTTCAGTATATGTGCTGCAGAAATGAGCACCCCCCACCTTTATTTACTAGCTATCAATATGGTAAATTAGTTCCCTAACATTCTCCAAGATAGCCATGAGATTTTTTTGTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGAGATGGAGTCTTGCACTGTTGCCCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCGCGCCATTCTCCTACCTCAGCCTCCTGAGTGCCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGAGACAGGGTTTCACCCTCTTAACCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCTGATAGCCGATGAGGTTTTTTTGTCATTGTTCTTCTTGTATCATTACAGACTCATGGCCTTTTATAGCTATATTTCTCTTTCTCCCGACTCTGTACAAACTCCTTTGTTTTAGAGTTTGCACAACCCTCTATCAAAGCACCTACCACCTCACTTTTAAATCTTCTGCATGTATTTCTGTCTTCCTTCCTAGACTGTGAGCACATCTGGGACAGGGACCATATCTTTTTTTGTTTATTTGTTTTGTTTTGAGACAGAGTCTCGCTCTGTCGGCCAGGCTGGAGTGCAATGGCGTGATCTGGCTATAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACATGTGCATGCCACCAAGCCCAGTTAATTTTTGTATTTTGAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGATCTCGAACTCCTGACCTCAGGTGATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCAGGACCATATCTTAATTGTCTTTGTAGTTTCAGTGTTTGGTACAGTGCCTCTCACTGTTTCTTTTTGCCTTTGAGATCTTCCCTCTTTGTTACTGTGATCTTCCCTACTGGTCTTTGTTCTTCTGAGTCTGTCCCTATCACCACCTCAACCCGAGCTGGATGTGGCCTGTCCTCCTTTTTGTGTTTCTCTCACAGACTGTGTACAGTGCCCTGGGCCTGAGGGATGCCTGCGGCTCCCTGCCGCAGTCCATCCAGCTCTTTCGGGACATTGCCCAAGAGTTCTCTGATGACCTGCACCATATCGCCAGCCTCATTGGGAAAGTAGTGAGTAGAAGGAAAAAGGGAGTGCACCCAGGGAGGTCAGGGAGAGAGAATGCAGTGTGCAAGATGGGGAAACATGGAAGATATTGAGGTCAATTGGATAAAGAATGGGATGGTGGGAGGAGGCAGCAGAACTTCAGGGAAGTATCTGGAGGGTGAGAGTTAAAGGAGGACTGCAGGGAGAATTGGGGCCCAAGGAGAGCTGAGGAACAGGACAGAGGGTGCCAGGTCCTAAGAAACAGTACTTATCTCCTCAGGTGGACTTTGAGGGCAGCCTTGCTGAAAATCGCTTCACAGTCCTCCCCAACATAGATCCTGAAATTGATGAGAGTGAGTGTTGGGTGTGGATGGGCCTGTGAGCCCTGCGCAGTGATGGAGTACCATCCTTGGCAGGTGGTCACCACAGCTGGGGATCTTCATAGCAACCAGGGCAGGAGACTCACTTTTGATAACCACGTGTCTTCCACCCTCGTAGAAAAGCGAAGACTGATGGGACTTCCCAGTTTCCTTACTGAGGTTGCCCGCAAGGAGCTGGAGAATCTGGACTCCCGTATTCCTTCATGCAGTGTCATCTACATCCCTCTGGTGAGGGCAGGAGAGTGGGTGTAGCCTTCAGATGTCTTTTGGGGGAGATATTAGGCTTATGAAAGACATACTGGTAGATAAGAAAACTTGTGGGGCAGCCTGAAGAACATGAACACTTTTTTGTGGGGATACAGGGATCTTTTAAGCTCCCTCTAGGGTGGGGAGGTGTCCAGTAAGTCTCCAAGCAGGAGAGTAGAGTATCTCCTCTTTACTCTCCCCAGATTGGCTTCCTTCTTTCTATTCCCCGCCTGCCTTCCATGGTAGAGGCCAGTGACTTTGAGATTAATGGACTGGACTTCATGGTAAGACCCTCAACCTCTGTAAGGTGAGTGATGAGGAAAATGAGTCAGCAGCTGAGGAAGAGCGTTACTCTACAGCAGCACTGCCCAATATGGGATCTCTCCTCTGTAGTTTTACTCTGAGCTTTACCAGCACTGAGACAAAGGAAAGAGAAGTCAGAGTTAGGGGCTGGAGGTGGGGTTAGAAAGATGGGGAAGGAGAGGAGGACCAAGAGATGCAAAGTCCACAGCTTTGAACCCCTGTACCCAGTTTCTCTCAGAGGAGAAGCTGCACTATCGTAGTGCCCGAACCAAGGAGCTGGATGCATTGCTGGGGGACCTGCACTGCGAGATCCGGGGTGAGGAAAAGCCAGAGGTTATATGCATTGTAAGATGTTTAAAAAAAGCAGCAGCCAGGGGAAGGAGGGGAGTGGGCAACTTGGGGATGCTTCCAACAGGCCCCTCCTCTTCCTGCTCTCTGTCTCGCTCACTCTGACTCTATCTTTTCCTCTGAATGTCTTGAGGTCTCAGATTGTATCTGCAACCTGTTTCCAGATCCCCCTAGGGGCCTCTGCCTCTCCTTCACTTTCCCCTGGAACTGACCTCCAGCTCCCTTCCTCACCCACTCCCAGACCAGGAGACGCTGCTGATGTACCAGCTACAGTGCCAGGTGCTGGCACGAGCAGCTGTCTTAACCCGAGTATTGGACCTTGCCTCCCGCCTGGACGTCCTGCTGGCTCTTGCCAGTGCTGCCCGGGACTATGGCTACTCAAGGCCGCGTTACTCCCCACAAGTCCTTGGGGTACGAATCCAGAATGGCAGGTAAGAATAGAGGCGGGTGGAGGAATAGACATGAGGGGCCCAAAGGCTACATCTTCTGGGGGTTCATCTATCTTGATCCACAAGCCATGCGAGGTGCCTCTCCGCCCACTGCAGACATCCTCTGATGGAACTCTGTGCCCGAACCTTTGTGCCCAACTCCACAGAATGTGGTGGGGACAAAGGGAGGGTCAAAGTCATCACTGGACCCAACTCATCAGGGAAGAGCATATACCTCAAACAGGTGAGGAGAAGCCCTGCAGCCTGGGCCTCTGG
|
Task1_train_10116
|
A variant on Chromosome 6 in gene MSH5, MSH5-SAPCD1 (mutS homolog 5| MSH5-SAPCD1 readthrough (NMD candidate)) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Premature ovarian failure 13
|
AAATCTATTATTCATTTATTTATTTATTTATTTAGTTTGAGGTGAGTCTCCCTCTGTCGCCAGGCTGAAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTACACCCAGCCATCTATTAATTCTTTAGCAATTACAAAGTAGTAGCATTTAAATCTCTGATTCTTTCTTCATTTATTAGCCAGAAATTTCTGTAAAGAGAAACTTCCTTTTATGTACTATTTGGTTGCCAAGTGATAGAAATCATATAGAAATACAGAAAATTGCTTGATATTTCCCCCACTCTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTGGGTTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGATGGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCTTTTTTTTTTCCCCAATATGGAACGCTTCTTGAATTTGTGTCATCCGTGCCCAGTGGCCGTGCTAATCCCTGTAACCTTCGAAATTTCAGTATATGTGCTGCAGAAATGAGCACCCCCCACCTTTATTTACTAGCTATCAATATGGTAAATTAGTTCCCTAACATTCTCCAAGATAGCCATGAGATTTTTTTGTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGAGATGGAGTCTTGCACTGTTGCCCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCGCGCCATTCTCCTACCTCAGCCTCCTGAGTGCCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGAGACAGGGTTTCACCCTCTTAACCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCTGATAGCCGATGAGGTTTTTTTGTCATTGTTCTTCTTGTATCATTACAGACTCATGGCCTTTTATAGCTATATTTCTCTTTCTCCCGACTCTGTACAAACTCCTTTGTTTTAGAGTTTGCACAACCCTCTATCAAAGCACCTACCACCTCACTTTTAAATCTTCTGCATGTATTTCTGTCTTCCTTCCTAGACTGTGAGCACATCTGGGACAGGGACCATATCTTTTTTTGTTTATTTGTTTTGTTTTGAGACAGAGTCTCGCTCTGTCGGCCAGGCTGGAGTGCAATGGCGTGATCTGGCTATAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACATGTGCATGCCACCAAGCCCAGTTAATTTTTGTATTTTGAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGATCTCGAACTCCTGACCTCAGGTGATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCAGGACCATATCTTAATTGTCTTTGTAGTTTCAGTGTTTGGTACAGTGCCTCTCACTGTTTCTTTTTGCCTTTGAGATCTTCCCTCTTTGTTACTGTGATCTTCCCTACTGGTCTTTGTTCTTCTGAGTCTGTCCCTATCACCACCTCAACCCGAGCTGGATGTGGCCTGTCCTCCTTTTTGTGTTTCTCTCACAGACTGTGTACAGTGCCCTGGGCCTGAGGGATGCCTGCCGCTCCCTGCCGCAGTCCATCCAGCTCTTTCGGGACATTGCCCAAGAGTTCTCTGATGACCTGCACCATATCGCCAGCCTCATTGGGAAAGTAGTGAGTAGAAGGAAAAAGGGAGTGCACCCAGGGAGGTCAGGGAGAGAGAATGCAGTGTGCAAGATGGGGAAACATGGAAGATATTGAGGTCAATTGGATAAAGAATGGGATGGTGGGAGGAGGCAGCAGAACTTCAGGGAAGTATCTGGAGGGTGAGAGTTAAAGGAGGACTGCAGGGAGAATTGGGGCCCAAGGAGAGCTGAGGAACAGGACAGAGGGTGCCAGGTCCTAAGAAACAGTACTTATCTCCTCAGGTGGACTTTGAGGGCAGCCTTGCTGAAAATCGCTTCACAGTCCTCCCCAACATAGATCCTGAAATTGATGAGAGTGAGTGTTGGGTGTGGATGGGCCTGTGAGCCCTGCGCAGTGATGGAGTACCATCCTTGGCAGGTGGTCACCACAGCTGGGGATCTTCATAGCAACCAGGGCAGGAGACTCACTTTTGATAACCACGTGTCTTCCACCCTCGTAGAAAAGCGAAGACTGATGGGACTTCCCAGTTTCCTTACTGAGGTTGCCCGCAAGGAGCTGGAGAATCTGGACTCCCGTATTCCTTCATGCAGTGTCATCTACATCCCTCTGGTGAGGGCAGGAGAGTGGGTGTAGCCTTCAGATGTCTTTTGGGGGAGATATTAGGCTTATGAAAGACATACTGGTAGATAAGAAAACTTGTGGGGCAGCCTGAAGAACATGAACACTTTTTTGTGGGGATACAGGGATCTTTTAAGCTCCCTCTAGGGTGGGGAGGTGTCCAGTAAGTCTCCAAGCAGGAGAGTAGAGTATCTCCTCTTTACTCTCCCCAGATTGGCTTCCTTCTTTCTATTCCCCGCCTGCCTTCCATGGTAGAGGCCAGTGACTTTGAGATTAATGGACTGGACTTCATGGTAAGACCCTCAACCTCTGTAAGGTGAGTGATGAGGAAAATGAGTCAGCAGCTGAGGAAGAGCGTTACTCTACAGCAGCACTGCCCAATATGGGATCTCTCCTCTGTAGTTTTACTCTGAGCTTTACCAGCACTGAGACAAAGGAAAGAGAAGTCAGAGTTAGGGGCTGGAGGTGGGGTTAGAAAGATGGGGAAGGAGAGGAGGACCAAGAGATGCAAAGTCCACAGCTTTGAACCCCTGTACCCAGTTTCTCTCAGAGGAGAAGCTGCACTATCGTAGTGCCCGAACCAAGGAGCTGGATGCATTGCTGGGGGACCTGCACTGCGAGATCCGGGGTGAGGAAAAGCCAGAGGTTATATGCATTGTAAGATGTTTAAAAAAAGCAGCAGCCAGGGGAAGGAGGGGAGTGGGCAACTTGGGGATGCTTCCAACAGGCCCCTCCTCTTCCTGCTCTCTGTCTCGCTCACTCTGACTCTATCTTTTCCTCTGAATGTCTTGAGGTCTCAGATTGTATCTGCAACCTGTTTCCAGATCCCCCTAGGGGCCTCTGCCTCTCCTTCACTTTCCCCTGGAACTGACCTCCAGCTCCCTTCCTCACCCACTCCCAGACCAGGAGACGCTGCTGATGTACCAGCTACAGTGCCAGGTGCTGGCACGAGCAGCTGTCTTAACCCGAGTATTGGACCTTGCCTCCCGCCTGGACGTCCTGCTGGCTCTTGCCAGTGCTGCCCGGGACTATGGCTACTCAAGGCCGCGTTACTCCCCACAAGTCCTTGGGGTACGAATCCAGAATGGCAGGTAAGAATAGAGGCGGGTGGAGGAATAGACATGAGGGGCCCAAAGGCTACATCTTCTGGGGGTTCATCTATCTTGATCCACAAGCCATGCGAGGTGCCTCTCCGCCCACTGCAGACATCCTCTGATGGAACTCTGTGCCCGAACCTTTGTGCCCAACTCCACAGAATGTGGTGGGGACAAAGGGAGGGTCAAAGTCATCACTGGACCCAACTCATCAGGGAAGAGCATATACCTCAAACAGGTGAGGAGAAGCCCTGCAGCCTGGGCCTCTGG
|
AAATCTATTATTCATTTATTTATTTATTTATTTAGTTTGAGGTGAGTCTCCCTCTGTCGCCAGGCTGAAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTACACCCAGCCATCTATTAATTCTTTAGCAATTACAAAGTAGTAGCATTTAAATCTCTGATTCTTTCTTCATTTATTAGCCAGAAATTTCTGTAAAGAGAAACTTCCTTTTATGTACTATTTGGTTGCCAAGTGATAGAAATCATATAGAAATACAGAAAATTGCTTGATATTTCCCCCACTCTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTGGGTTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGATGGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCTTTTTTTTTTCCCCAATATGGAACGCTTCTTGAATTTGTGTCATCCGTGCCCAGTGGCCGTGCTAATCCCTGTAACCTTCGAAATTTCAGTATATGTGCTGCAGAAATGAGCACCCCCCACCTTTATTTACTAGCTATCAATATGGTAAATTAGTTCCCTAACATTCTCCAAGATAGCCATGAGATTTTTTTGTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGAGATGGAGTCTTGCACTGTTGCCCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCGCGCCATTCTCCTACCTCAGCCTCCTGAGTGCCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGAGACAGGGTTTCACCCTCTTAACCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCTGATAGCCGATGAGGTTTTTTTGTCATTGTTCTTCTTGTATCATTACAGACTCATGGCCTTTTATAGCTATATTTCTCTTTCTCCCGACTCTGTACAAACTCCTTTGTTTTAGAGTTTGCACAACCCTCTATCAAAGCACCTACCACCTCACTTTTAAATCTTCTGCATGTATTTCTGTCTTCCTTCCTAGACTGTGAGCACATCTGGGACAGGGACCATATCTTTTTTTGTTTATTTGTTTTGTTTTGAGACAGAGTCTCGCTCTGTCGGCCAGGCTGGAGTGCAATGGCGTGATCTGGCTATAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACATGTGCATGCCACCAAGCCCAGTTAATTTTTGTATTTTGAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGATCTCGAACTCCTGACCTCAGGTGATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCAGGACCATATCTTAATTGTCTTTGTAGTTTCAGTGTTTGGTACAGTGCCTCTCACTGTTTCTTTTTGCCTTTGAGATCTTCCCTCTTTGTTACTGTGATCTTCCCTACTGGTCTTTGTTCTTCTGAGTCTGTCCCTATCACCACCTCAACCCGAGCTGGATGTGGCCTGTCCTCCTTTTTGTGTTTCTCTCACAGACTGTGTACAGTGCCCTGGGCCTGAGGGATGCCTGCGGCTCCCTGCCGCAGTCCATCCAGCTCTTTCGGGACATTGCCCAAGAGTTCTCTGATGACCTGCACCATATCGCCAGCCTCATTGGGAAAGTAGTGAGTAGAAGGAAAAAGGGAGTGCACCCAGGGAGGTCAGGGAGAGAGAATGCAGTGTGCAAGATGGGGAAACATGGAAGATATTGAGGTCAATTGGATAAAGAATGGGATGGTGGGAGGAGGCAGCAGAACTTCAGGGAAGTATCTGGAGGGTGAGAGTTAAAGGAGGACTGCAGGGAGAATTGGGGCCCAAGGAGAGCTGAGGAACAGGACAGAGGGTGCCAGGTCCTAAGAAACAGTACTTATCTCCTCAGGTGGACTTTGAGGGCAGCCTTGCTGAAAATCGCTTCACAGTCCTCCCCAACATAGATCCTGAAATTGATGAGAGTGAGTGTTGGGTGTGGATGGGCCTGTGAGCCCTGCGCAGTGATGGAGTACCATCCTTGGCAGGTGGTCACCACAGCTGGGGATCTTCATAGCAACCAGGGCAGGAGACTCACTTTTGATAACCACGTGTCTTCCACCCTCGTAGAAAAGCGAAGACTGATGGGACTTCCCAGTTTCCTTACTGAGGTTGCCCGCAAGGAGCTGGAGAATCTGGACTCCCGTATTCCTTCATGCAGTGTCATCTACATCCCTCTGGTGAGGGCAGGAGAGTGGGTGTAGCCTTCAGATGTCTTTTGGGGGAGATATTAGGCTTATGAAAGACATACTGGTAGATAAGAAAACTTGTGGGGCAGCCTGAAGAACATGAACACTTTTTTGTGGGGATACAGGGATCTTTTAAGCTCCCTCTAGGGTGGGGAGGTGTCCAGTAAGTCTCCAAGCAGGAGAGTAGAGTATCTCCTCTTTACTCTCCCCAGATTGGCTTCCTTCTTTCTATTCCCCGCCTGCCTTCCATGGTAGAGGCCAGTGACTTTGAGATTAATGGACTGGACTTCATGGTAAGACCCTCAACCTCTGTAAGGTGAGTGATGAGGAAAATGAGTCAGCAGCTGAGGAAGAGCGTTACTCTACAGCAGCACTGCCCAATATGGGATCTCTCCTCTGTAGTTTTACTCTGAGCTTTACCAGCACTGAGACAAAGGAAAGAGAAGTCAGAGTTAGGGGCTGGAGGTGGGGTTAGAAAGATGGGGAAGGAGAGGAGGACCAAGAGATGCAAAGTCCACAGCTTTGAACCCCTGTACCCAGTTTCTCTCAGAGGAGAAGCTGCACTATCGTAGTGCCCGAACCAAGGAGCTGGATGCATTGCTGGGGGACCTGCACTGCGAGATCCGGGGTGAGGAAAAGCCAGAGGTTATATGCATTGTAAGATGTTTAAAAAAAGCAGCAGCCAGGGGAAGGAGGGGAGTGGGCAACTTGGGGATGCTTCCAACAGGCCCCTCCTCTTCCTGCTCTCTGTCTCGCTCACTCTGACTCTATCTTTTCCTCTGAATGTCTTGAGGTCTCAGATTGTATCTGCAACCTGTTTCCAGATCCCCCTAGGGGCCTCTGCCTCTCCTTCACTTTCCCCTGGAACTGACCTCCAGCTCCCTTCCTCACCCACTCCCAGACCAGGAGACGCTGCTGATGTACCAGCTACAGTGCCAGGTGCTGGCACGAGCAGCTGTCTTAACCCGAGTATTGGACCTTGCCTCCCGCCTGGACGTCCTGCTGGCTCTTGCCAGTGCTGCCCGGGACTATGGCTACTCAAGGCCGCGTTACTCCCCACAAGTCCTTGGGGTACGAATCCAGAATGGCAGGTAAGAATAGAGGCGGGTGGAGGAATAGACATGAGGGGCCCAAAGGCTACATCTTCTGGGGGTTCATCTATCTTGATCCACAAGCCATGCGAGGTGCCTCTCCGCCCACTGCAGACATCCTCTGATGGAACTCTGTGCCCGAACCTTTGTGCCCAACTCCACAGAATGTGGTGGGGACAAAGGGAGGGTCAAAGTCATCACTGGACCCAACTCATCAGGGAAGAGCATATACCTCAAACAGGTGAGGAGAAGCCCTGCAGCCTGGGCCTCTGG
|
Task1_train_10117
|
A change on Chromosome 6 affects gene MSH5, MSH5-SAPCD1 (mutS homolog 5| MSH5-SAPCD1 readthrough (NMD candidate)). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Spermatogenic failure 74
|
AAATCTATTATTCATTTATTTATTTATTTATTTAGTTTGAGGTGAGTCTCCCTCTGTCGCCAGGCTGAAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTACACCCAGCCATCTATTAATTCTTTAGCAATTACAAAGTAGTAGCATTTAAATCTCTGATTCTTTCTTCATTTATTAGCCAGAAATTTCTGTAAAGAGAAACTTCCTTTTATGTACTATTTGGTTGCCAAGTGATAGAAATCATATAGAAATACAGAAAATTGCTTGATATTTCCCCCACTCTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTGGGTTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGATGGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCTTTTTTTTTTCCCCAATATGGAACGCTTCTTGAATTTGTGTCATCCGTGCCCAGTGGCCGTGCTAATCCCTGTAACCTTCGAAATTTCAGTATATGTGCTGCAGAAATGAGCACCCCCCACCTTTATTTACTAGCTATCAATATGGTAAATTAGTTCCCTAACATTCTCCAAGATAGCCATGAGATTTTTTTGTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGAGATGGAGTCTTGCACTGTTGCCCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCGCGCCATTCTCCTACCTCAGCCTCCTGAGTGCCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGAGACAGGGTTTCACCCTCTTAACCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCTGATAGCCGATGAGGTTTTTTTGTCATTGTTCTTCTTGTATCATTACAGACTCATGGCCTTTTATAGCTATATTTCTCTTTCTCCCGACTCTGTACAAACTCCTTTGTTTTAGAGTTTGCACAACCCTCTATCAAAGCACCTACCACCTCACTTTTAAATCTTCTGCATGTATTTCTGTCTTCCTTCCTAGACTGTGAGCACATCTGGGACAGGGACCATATCTTTTTTTGTTTATTTGTTTTGTTTTGAGACAGAGTCTCGCTCTGTCGGCCAGGCTGGAGTGCAATGGCGTGATCTGGCTATAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACATGTGCATGCCACCAAGCCCAGTTAATTTTTGTATTTTGAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGATCTCGAACTCCTGACCTCAGGTGATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCAGGACCATATCTTAATTGTCTTTGTAGTTTCAGTGTTTGGTACAGTGCCTCTCACTGTTTCTTTTTGCCTTTGAGATCTTCCCTCTTTGTTACTGTGATCTTCCCTACTGGTCTTTGTTCTTCTGAGTCTGTCCCTATCACCACCTCAACCCGAGCTGGATGTGGCCTGTCCTCCTTTTTGTGTTTCTCTCACAGACTGTGTACAGTGCCCTGGGCCTGAGGGATGCCTGCCGCTCCCTGCCGCAGTCCATCCAGCTCTTTCGGGACATTGCCCAAGAGTTCTCTGATGACCTGCACCATATCGCCAGCCTCATTGGGAAAGTAGTGAGTAGAAGGAAAAAGGGAGTGCACCCAGGGAGGTCAGGGAGAGAGAATGCAGTGTGCAAGATGGGGAAACATGGAAGATATTGAGGTCAATTGGATAAAGAATGGGATGGTGGGAGGAGGCAGCAGAACTTCAGGGAAGTATCTGGAGGGTGAGAGTTAAAGGAGGACTGCAGGGAGAATTGGGGCCCAAGGAGAGCTGAGGAACAGGACAGAGGGTGCCAGGTCCTAAGAAACAGTACTTATCTCCTCAGGTGGACTTTGAGGGCAGCCTTGCTGAAAATCGCTTCACAGTCCTCCCCAACATAGATCCTGAAATTGATGAGAGTGAGTGTTGGGTGTGGATGGGCCTGTGAGCCCTGCGCAGTGATGGAGTACCATCCTTGGCAGGTGGTCACCACAGCTGGGGATCTTCATAGCAACCAGGGCAGGAGACTCACTTTTGATAACCACGTGTCTTCCACCCTCGTAGAAAAGCGAAGACTGATGGGACTTCCCAGTTTCCTTACTGAGGTTGCCCGCAAGGAGCTGGAGAATCTGGACTCCCGTATTCCTTCATGCAGTGTCATCTACATCCCTCTGGTGAGGGCAGGAGAGTGGGTGTAGCCTTCAGATGTCTTTTGGGGGAGATATTAGGCTTATGAAAGACATACTGGTAGATAAGAAAACTTGTGGGGCAGCCTGAAGAACATGAACACTTTTTTGTGGGGATACAGGGATCTTTTAAGCTCCCTCTAGGGTGGGGAGGTGTCCAGTAAGTCTCCAAGCAGGAGAGTAGAGTATCTCCTCTTTACTCTCCCCAGATTGGCTTCCTTCTTTCTATTCCCCGCCTGCCTTCCATGGTAGAGGCCAGTGACTTTGAGATTAATGGACTGGACTTCATGGTAAGACCCTCAACCTCTGTAAGGTGAGTGATGAGGAAAATGAGTCAGCAGCTGAGGAAGAGCGTTACTCTACAGCAGCACTGCCCAATATGGGATCTCTCCTCTGTAGTTTTACTCTGAGCTTTACCAGCACTGAGACAAAGGAAAGAGAAGTCAGAGTTAGGGGCTGGAGGTGGGGTTAGAAAGATGGGGAAGGAGAGGAGGACCAAGAGATGCAAAGTCCACAGCTTTGAACCCCTGTACCCAGTTTCTCTCAGAGGAGAAGCTGCACTATCGTAGTGCCCGAACCAAGGAGCTGGATGCATTGCTGGGGGACCTGCACTGCGAGATCCGGGGTGAGGAAAAGCCAGAGGTTATATGCATTGTAAGATGTTTAAAAAAAGCAGCAGCCAGGGGAAGGAGGGGAGTGGGCAACTTGGGGATGCTTCCAACAGGCCCCTCCTCTTCCTGCTCTCTGTCTCGCTCACTCTGACTCTATCTTTTCCTCTGAATGTCTTGAGGTCTCAGATTGTATCTGCAACCTGTTTCCAGATCCCCCTAGGGGCCTCTGCCTCTCCTTCACTTTCCCCTGGAACTGACCTCCAGCTCCCTTCCTCACCCACTCCCAGACCAGGAGACGCTGCTGATGTACCAGCTACAGTGCCAGGTGCTGGCACGAGCAGCTGTCTTAACCCGAGTATTGGACCTTGCCTCCCGCCTGGACGTCCTGCTGGCTCTTGCCAGTGCTGCCCGGGACTATGGCTACTCAAGGCCGCGTTACTCCCCACAAGTCCTTGGGGTACGAATCCAGAATGGCAGGTAAGAATAGAGGCGGGTGGAGGAATAGACATGAGGGGCCCAAAGGCTACATCTTCTGGGGGTTCATCTATCTTGATCCACAAGCCATGCGAGGTGCCTCTCCGCCCACTGCAGACATCCTCTGATGGAACTCTGTGCCCGAACCTTTGTGCCCAACTCCACAGAATGTGGTGGGGACAAAGGGAGGGTCAAAGTCATCACTGGACCCAACTCATCAGGGAAGAGCATATACCTCAAACAGGTGAGGAGAAGCCCTGCAGCCTGGGCCTCTGG
|
AAATCTATTATTCATTTATTTATTTATTTATTTAGTTTGAGGTGAGTCTCCCTCTGTCGCCAGGCTGAAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTTACAGGCGCACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTACACCCAGCCATCTATTAATTCTTTAGCAATTACAAAGTAGTAGCATTTAAATCTCTGATTCTTTCTTCATTTATTAGCCAGAAATTTCTGTAAAGAGAAACTTCCTTTTATGTACTATTTGGTTGCCAAGTGATAGAAATCATATAGAAATACAGAAAATTGCTTGATATTTCCCCCACTCTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTGGGTTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGATGGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCTTTTTTTTTTCCCCAATATGGAACGCTTCTTGAATTTGTGTCATCCGTGCCCAGTGGCCGTGCTAATCCCTGTAACCTTCGAAATTTCAGTATATGTGCTGCAGAAATGAGCACCCCCCACCTTTATTTACTAGCTATCAATATGGTAAATTAGTTCCCTAACATTCTCCAAGATAGCCATGAGATTTTTTTGTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGAGATGGAGTCTTGCACTGTTGCCCAGGCAGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCGCGCCATTCTCCTACCTCAGCCTCCTGAGTGCCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGAGACAGGGTTTCACCCTCTTAACCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCTGATAGCCGATGAGGTTTTTTTGTCATTGTTCTTCTTGTATCATTACAGACTCATGGCCTTTTATAGCTATATTTCTCTTTCTCCCGACTCTGTACAAACTCCTTTGTTTTAGAGTTTGCACAACCCTCTATCAAAGCACCTACCACCTCACTTTTAAATCTTCTGCATGTATTTCTGTCTTCCTTCCTAGACTGTGAGCACATCTGGGACAGGGACCATATCTTTTTTTGTTTATTTGTTTTGTTTTGAGACAGAGTCTCGCTCTGTCGGCCAGGCTGGAGTGCAATGGCGTGATCTGGCTATAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACATGTGCATGCCACCAAGCCCAGTTAATTTTTGTATTTTGAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGATCTCGAACTCCTGACCTCAGGTGATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCAGGACCATATCTTAATTGTCTTTGTAGTTTCAGTGTTTGGTACAGTGCCTCTCACTGTTTCTTTTTGCCTTTGAGATCTTCCCTCTTTGTTACTGTGATCTTCCCTACTGGTCTTTGTTCTTCTGAGTCTGTCCCTATCACCACCTCAACCCGAGCTGGATGTGGCCTGTCCTCCTTTTTGTGTTTCTCTCACAGACTGTGTACAGTGCCCTGGGCCTGAGGGATGCCTGCGGCTCCCTGCCGCAGTCCATCCAGCTCTTTCGGGACATTGCCCAAGAGTTCTCTGATGACCTGCACCATATCGCCAGCCTCATTGGGAAAGTAGTGAGTAGAAGGAAAAAGGGAGTGCACCCAGGGAGGTCAGGGAGAGAGAATGCAGTGTGCAAGATGGGGAAACATGGAAGATATTGAGGTCAATTGGATAAAGAATGGGATGGTGGGAGGAGGCAGCAGAACTTCAGGGAAGTATCTGGAGGGTGAGAGTTAAAGGAGGACTGCAGGGAGAATTGGGGCCCAAGGAGAGCTGAGGAACAGGACAGAGGGTGCCAGGTCCTAAGAAACAGTACTTATCTCCTCAGGTGGACTTTGAGGGCAGCCTTGCTGAAAATCGCTTCACAGTCCTCCCCAACATAGATCCTGAAATTGATGAGAGTGAGTGTTGGGTGTGGATGGGCCTGTGAGCCCTGCGCAGTGATGGAGTACCATCCTTGGCAGGTGGTCACCACAGCTGGGGATCTTCATAGCAACCAGGGCAGGAGACTCACTTTTGATAACCACGTGTCTTCCACCCTCGTAGAAAAGCGAAGACTGATGGGACTTCCCAGTTTCCTTACTGAGGTTGCCCGCAAGGAGCTGGAGAATCTGGACTCCCGTATTCCTTCATGCAGTGTCATCTACATCCCTCTGGTGAGGGCAGGAGAGTGGGTGTAGCCTTCAGATGTCTTTTGGGGGAGATATTAGGCTTATGAAAGACATACTGGTAGATAAGAAAACTTGTGGGGCAGCCTGAAGAACATGAACACTTTTTTGTGGGGATACAGGGATCTTTTAAGCTCCCTCTAGGGTGGGGAGGTGTCCAGTAAGTCTCCAAGCAGGAGAGTAGAGTATCTCCTCTTTACTCTCCCCAGATTGGCTTCCTTCTTTCTATTCCCCGCCTGCCTTCCATGGTAGAGGCCAGTGACTTTGAGATTAATGGACTGGACTTCATGGTAAGACCCTCAACCTCTGTAAGGTGAGTGATGAGGAAAATGAGTCAGCAGCTGAGGAAGAGCGTTACTCTACAGCAGCACTGCCCAATATGGGATCTCTCCTCTGTAGTTTTACTCTGAGCTTTACCAGCACTGAGACAAAGGAAAGAGAAGTCAGAGTTAGGGGCTGGAGGTGGGGTTAGAAAGATGGGGAAGGAGAGGAGGACCAAGAGATGCAAAGTCCACAGCTTTGAACCCCTGTACCCAGTTTCTCTCAGAGGAGAAGCTGCACTATCGTAGTGCCCGAACCAAGGAGCTGGATGCATTGCTGGGGGACCTGCACTGCGAGATCCGGGGTGAGGAAAAGCCAGAGGTTATATGCATTGTAAGATGTTTAAAAAAAGCAGCAGCCAGGGGAAGGAGGGGAGTGGGCAACTTGGGGATGCTTCCAACAGGCCCCTCCTCTTCCTGCTCTCTGTCTCGCTCACTCTGACTCTATCTTTTCCTCTGAATGTCTTGAGGTCTCAGATTGTATCTGCAACCTGTTTCCAGATCCCCCTAGGGGCCTCTGCCTCTCCTTCACTTTCCCCTGGAACTGACCTCCAGCTCCCTTCCTCACCCACTCCCAGACCAGGAGACGCTGCTGATGTACCAGCTACAGTGCCAGGTGCTGGCACGAGCAGCTGTCTTAACCCGAGTATTGGACCTTGCCTCCCGCCTGGACGTCCTGCTGGCTCTTGCCAGTGCTGCCCGGGACTATGGCTACTCAAGGCCGCGTTACTCCCCACAAGTCCTTGGGGTACGAATCCAGAATGGCAGGTAAGAATAGAGGCGGGTGGAGGAATAGACATGAGGGGCCCAAAGGCTACATCTTCTGGGGGTTCATCTATCTTGATCCACAAGCCATGCGAGGTGCCTCTCCGCCCACTGCAGACATCCTCTGATGGAACTCTGTGCCCGAACCTTTGTGCCCAACTCCACAGAATGTGGTGGGGACAAAGGGAGGGTCAAAGTCATCACTGGACCCAACTCATCAGGGAAGAGCATATACCTCAAACAGGTGAGGAGAAGCCCTGCAGCCTGGGCCTCTGG
|
Task1_train_10118
|
A variant on Chromosome 6 in gene MSH5, MSH5-SAPCD1 (mutS homolog 5| MSH5-SAPCD1 readthrough (NMD candidate)) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Premature ovarian failure 13
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GCCACCGCGCCCGGCCCTGATAGCCGATGAGGTTTTTTTGTCATTGTTCTTCTTGTATCATTACAGACTCATGGCCTTTTATAGCTATATTTCTCTTTCTCCCGACTCTGTACAAACTCCTTTGTTTTAGAGTTTGCACAACCCTCTATCAAAGCACCTACCACCTCACTTTTAAATCTTCTGCATGTATTTCTGTCTTCCTTCCTAGACTGTGAGCACATCTGGGACAGGGACCATATCTTTTTTTGTTTATTTGTTTTGTTTTGAGACAGAGTCTCGCTCTGTCGGCCAGGCTGGAGTGCAATGGCGTGATCTGGCTATAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACATGTGCATGCCACCAAGCCCAGTTAATTTTTGTATTTTGAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGATCTCGAACTCCTGACCTCAGGTGATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCAGGACCATATCTTAATTGTCTTTGTAGTTTCAGTGTTTGGTACAGTGCCTCTCACTGTTTCTTTTTGCCTTTGAGATCTTCCCTCTTTGTTACTGTGATCTTCCCTACTGGTCTTTGTTCTTCTGAGTCTGTCCCTATCACCACCTCAACCCGAGCTGGATGTGGCCTGTCCTCCTTTTTGTGTTTCTCTCACAGACTGTGTACAGTGCCCTGGGCCTGAGGGATGCCTGCCGCTCCCTGCCGCAGTCCATCCAGCTCTTTCGGGACATTGCCCAAGAGTTCTCTGATGACCTGCACCATATCGCCAGCCTCATTGGGAAAGTAGTGAGTAGAAGGAAAAAGGGAGTGCACCCAGGGAGGTCAGGGAGAGAGAATGCAGTGTGCAAGATGGGGAAACATGGAAGATATTGAGGTCAATTGGATAAAGAATGGGATGGTGGGAGGAGGCAGCAGAACTTCAGGGAAGTATCTGGAGGGTGAGAGTTAAAGGAGGACTGCAGGGAGAATTGGGGCCCAAGGAGAGCTGAGGAACAGGACAGAGGGTGCCAGGTCCTAAGAAACAGTACTTATCTCCTCAGGTGGACTTTGAGGGCAGCCTTGCTGAAAATCGCTTCACAGTCCTCCCCAACATAGATCCTGAAATTGATGAGAGTGAGTGTTGGGTGTGGATGGGCCTGTGAGCCCTGCGCAGTGATGGAGTACCATCCTTGGCAGGTGGTCACCACAGCTGGGGATCTTCATAGCAACCAGGGCAGGAGACTCACTTTTGATAACCACGTGTCTTCCACCCTCGTAGAAAAGCGAAGACTGATGGGACTTCCCAGTTTCCTTACTGAGGTTGCCCGCAAGGAGCTGGAGAATCTGGACTCCCGTATTCCTTCATGCAGTGTCATCTACATCCCTCTGGTGAGGGCAGGAGAGTGGGTGTAGCCTTCAGATGTCTTTTGGGGGAGATATTAGGCTTATGAAAGACATACTGGTAGATAAGAAAACTTGTGGGGCAGCCTGAAGAACATGAACACTTTTTTGTGGGGATACAGGGATCTTTTAAGCTCCCTCTAGGGTGGGGAGGTGTCCAGTAAGTCTCCAAGCAGGAGAGTAGAGTATCTCCTCTTTACTCTCCCCAGATTGGCTTCCTTCTTTCTATTCCCCGCCTGCCTTCCATGGTAGAGGCCAGTGACTTTGAGATTAATGGACTGGACTTCATGGTAAGACCCTCAACCTCTGTAAGGTGAGTGATGAGGAAAATGAGTCAGCAGCTGAGGAAGAGCGTTACTCTACAGCAGCACTGCCCAATATGGGATCTCTCCTCTGTAGTTTTACTCTGAGCTTTACCAGCACTGAGACAAAGGAAAGAGAAGTCAGAGTTAGGGGCTGGAGGTGGGGTTAGAAAGATGGGGAAGGAGAGGAGGACCAAGAGATGCAAAGTCCACAGCTTTGAACCCCTGTACCCAGTTTCTCTCAGAGGAGAAGCTGCACTATCGTAGTGCCCGAACCAAGGAGCTGGATGCATTGCTGGGGGACCTGCACTGCGAGATCCGGGGTGAGGAAAAGCCAGAGGTTATATGCATTGTAAGATGTTTAAAAAAAGCAGCAGCCAGGGGAAGGAGGGGAGTGGGCAACTTGGGGATGCTTCCAACAGGCCCCTCCTCTTCCTGCTCTCTGTCTCGCTCACTCTGACTCTATCTTTTCCTCTGAATGTCTTGAGGTCTCAGATTGTATCTGCAACCTGTTTCCAGATCCCCCTAGGGGCCTCTGCCTCTCCTTCACTTTCCCCTGGAACTGACCTCCAGCTCCCTTCCTCACCCACTCCCAGACCAGGAGACGCTGCTGATGTACCAGCTACAGTGCCAGGTGCTGGCACGAGCAGCTGTCTTAACCCGAGTATTGGACCTTGCCTCCCGCCTGGACGTCCTGCTGGCTCTTGCCAGTGCTGCCCGGGACTATGGCTACTCAAGGCCGCGTTACTCCCCACAAGTCCTTGGGGTACGAATCCAGAATGGCAGGTAAGAATAGAGGCGGGTGGAGGAATAGACATGAGGGGCCCAAAGGCTACATCTTCTGGGGGTTCATCTATCTTGATCCACAAGCCATGCGAGGTGCCTCTCCGCCCACTGCAGACATCCTCTGATGGAACTCTGTGCCCGAACCTTTGTGCCCAACTCCACAGAATGTGGTGGGGACAAAGGGAGGGTCAAAGTCATCACTGGACCCAACTCATCAGGGAAGAGCATATACCTCAAACAGGTGAGGAGAAGCCCTGCAGCCTGGGCCTCTGGCGTCTCCTGCATCTACTCCACCCCTACTTGCCAGCCAACTCAGGCTCCTGCAGCTCTTCTCCCATTTTCTGACCCCGCTCTTCATGAAAGGACCATCACCCACATCCCTGTGCTTCCACCTCACATGTTCTTATTCTCCACTGGAGAGCCATGCTCTAATGGAACTTTCCGTGGCCCAAATTCCTTCACCTGCCTCTGAGTAGGTACACACCACTCCCAAGTATGTCTCTGCCCACGTCCCGTGCCTCTTCACTGATTCTAAATTAGCCCACAGGGCTATGGTCAGGATTCGGGGAGGAGAGACAGAGTCAGTGTGTCTGTTACCTATTTCTCCTGTTTCACCCTGTCCATTTCTCTTTGATGTGCCATTCATGCCTTGAGCCTCACTTTCACCTCAGCCCACGGCACCAGGCCCCAGGCCCTGTCTCCTTCCCTATTCAGGTAGGCTTGATCACATTCATGGCCCTGGTAGGCAGCTTTGTGCCAGCAGAGGAGGCCGAAATTGGGGCAGTAGACGCCATCTTCACACGAATTCATAGCTGCGAATCCATCTCCCTTGGCCTCTCCACCTTCATGATCGACCTCAACCAGGTCAAAGGGAACAAAGGGAGGTGGGATTGAGGAAGGGGATAATGGGAAAGGAACCCCTGAAAATGCTCATAACAGGAAAGCATGCCCTCTGCTGCATGCCCTTTATACTAAAAGTGGGGAGCACTAAGGTCAGAGATAAGAAGAATCAATACCATAAACATTTCTTGAACCCTTGTTTCATGTGAGTCACTGTTGGCAAAGAGGATGAACAAAGCGTGCACCTCACCATTCAAGAACTTGCAGTGCAGTAGGGAGGGCATGTATACAGCTTTATTCACAGGCCAACTGTGGTCAGTGCGTTACGGGCTTCCAATACTAACTTTCCCTTGTCCACCTTATACCCAGCAGGTGGCGAAAGCAGTGAACAATGCCACTGCACAGTCGCTGGTCCTTATTGATGAATTTGGAAAGGGAACCAACACGGTGAGGGGAGAAACTGATGAGGGGAGAAACTAAGGAGGGGAAAATGGAGGAGGATGAAGGAGCATGACAGTGAGGCTGGGCCTCTGGAATGGAATAGGGCTGTGTGGGCAGAAAAGAAATAGAACACGAGACAGGGAAAGGCAGTGCAAGTGCAGAGGGGCATATGGGGTCCCCATGGCTCCGAATGCTAACCTCTGCCCTCTTTGCAGGTGGATGGGCTCGCGCTTCTGGCCGCTGTGCTCCGACACTGGCTGGCACGTG
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GCCACCGCGCCCGGCCCTGATAGCCGATGAGGTTTTTTTGTCATTGTTCTTCTTGTATCATTACAGACTCATGGCCTTTTATAGCTATATTTCTCTTTCTCCCGACTCTGTACAAACTCCTTTGTTTTAGAGTTTGCACAACCCTCTATCAAAGCACCTACCACCTCACTTTTAAATCTTCTGCATGTATTTCTGTCTTCCTTCCTAGACTGTGAGCACATCTGGGACAGGGACCATATCTTTTTTTGTTTATTTGTTTTGTTTTGAGACAGAGTCTCGCTCTGTCGGCCAGGCTGGAGTGCAATGGCGTGATCTGGCTATAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACATGTGCATGCCACCAAGCCCAGTTAATTTTTGTATTTTGAGTAGAGACAGGGTTTCACCATGTTGGTGAGGCTGATCTCGAACTCCTGACCTCAGGTGATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCAGGACCATATCTTAATTGTCTTTGTAGTTTCAGTGTTTGGTACAGTGCCTCTCACTGTTTCTTTTTGCCTTTGAGATCTTCCCTCTTTGTTACTGTGATCTTCCCTACTGGTCTTTGTTCTTCTGAGTCTGTCCCTATCACCACCTCAACCCGAGCTGGATGTGGCCTGTCCTCCTTTTTGTGTTTCTCTCACAGACTGTGTACAGTGCCCTGGGCCTGAGGGATGCCTGCCGCTCCCTGCCGCAGTCCATCCAGCTCTTTCGGGACATTGCCCAAGAGTTCTCTGATGACCTGCACCATATCGCCAGCCTCATTGGGAAAGTAGTGAGTAGAAGGAAAAAGGGAGTGCACCCAGGGAGGTCAGGGAGAGAGAATGCAGTGTGCAAGATGGGGAAACATGGAAGATATTGAGGTCAATTGGATAAAGAATGGGATGGTGGGAGGAGGCAGCAGAACTTCAGGGAAGTATCTGGAGGGTGAGAGTTAAAGGAGGACTGCAGGGAGAATTGGGGCCCAAGGAGAGCTGAGGAACAGGACAGAGGGTGCCAGGTCCTAAGAAACAGTACTTATCTCCTCAGGTGGACTTTGAGGGCAGCCTTGCTGAAAATCGCTTCACAGTCCTCCCCAACATAGATCCTGAAATTGATGAGAGTGAGTGTTGGGTGTGGATGGGCCTGTGAGCCCTGCGCAGTGATGGAGTACCATCCTTGGCAGGTGGTCACCACAGCTGGGGATCTTCATAGCAACCAGGGCAGGAGACTCACTTTTGATAACCACGTGTCTTCCACCCTCGTAGAAAAGCGAAGACTGATGGGACTTCCCAGTTTCCTTACTGAGGTTGCCCGCAAGGAGCTGGAGAATCTGGACTCCCGTATTCCTTCATGCAGTGTCATCTACATCCCTCTGGTGAGGGCAGGAGAGTGGGTGTAGCCTTCAGATGTCTTTTGGGGGAGATATTAGGCTTATGAAAGACATACTGGTAGATAAGAAAACTTGTGGGGCAGCCTGAAGAACATGAACACTTTTTTGTGGGGATACAGGGATCTTTTAAGCTCCCTCTAGGGTGGGGAGGTGTCCAGTAAGTCTCCAAGCAGGAGAGTAGAGTATCTCCTCTTTACTCTCCCCAGATTGGCTTCCTTCTTTCTATTCCCCGCCTGCCTTCCATGGTAGAGGCCAGTGACTTTGAGATTAATGGACTGGACTTCATGGTAAGACCCTCAACCTCTGTAAGGTGAGTGATGAGGAAAATGAGTCAGCAGCTGAGGAAGAGCGTTACTCTACAGCAGCACTGCCCAATATGGGATCTCTCCTCTGTAGTTTTACTCTGAGCTTTACCAGCACTGAGACAAAGGAAAGAGAAGTCAGAGTTAGGGGCTGGAGGTGGGGTTAGAAAGATGGGGAAGGAGAGGAGGACCAAGAGATGCAAAGTCCACAGCTTTGAACCCCTGTACCCAGTTTCTCTCAGAGGAGAAGCTGCACTATCGTAGTGCCCGAACCAAGGAGCTGTATGCATTGCTGGGGGACCTGCACTGCGAGATCCGGGGTGAGGAAAAGCCAGAGGTTATATGCATTGTAAGATGTTTAAAAAAAGCAGCAGCCAGGGGAAGGAGGGGAGTGGGCAACTTGGGGATGCTTCCAACAGGCCCCTCCTCTTCCTGCTCTCTGTCTCGCTCACTCTGACTCTATCTTTTCCTCTGAATGTCTTGAGGTCTCAGATTGTATCTGCAACCTGTTTCCAGATCCCCCTAGGGGCCTCTGCCTCTCCTTCACTTTCCCCTGGAACTGACCTCCAGCTCCCTTCCTCACCCACTCCCAGACCAGGAGACGCTGCTGATGTACCAGCTACAGTGCCAGGTGCTGGCACGAGCAGCTGTCTTAACCCGAGTATTGGACCTTGCCTCCCGCCTGGACGTCCTGCTGGCTCTTGCCAGTGCTGCCCGGGACTATGGCTACTCAAGGCCGCGTTACTCCCCACAAGTCCTTGGGGTACGAATCCAGAATGGCAGGTAAGAATAGAGGCGGGTGGAGGAATAGACATGAGGGGCCCAAAGGCTACATCTTCTGGGGGTTCATCTATCTTGATCCACAAGCCATGCGAGGTGCCTCTCCGCCCACTGCAGACATCCTCTGATGGAACTCTGTGCCCGAACCTTTGTGCCCAACTCCACAGAATGTGGTGGGGACAAAGGGAGGGTCAAAGTCATCACTGGACCCAACTCATCAGGGAAGAGCATATACCTCAAACAGGTGAGGAGAAGCCCTGCAGCCTGGGCCTCTGGCGTCTCCTGCATCTACTCCACCCCTACTTGCCAGCCAACTCAGGCTCCTGCAGCTCTTCTCCCATTTTCTGACCCCGCTCTTCATGAAAGGACCATCACCCACATCCCTGTGCTTCCACCTCACATGTTCTTATTCTCCACTGGAGAGCCATGCTCTAATGGAACTTTCCGTGGCCCAAATTCCTTCACCTGCCTCTGAGTAGGTACACACCACTCCCAAGTATGTCTCTGCCCACGTCCCGTGCCTCTTCACTGATTCTAAATTAGCCCACAGGGCTATGGTCAGGATTCGGGGAGGAGAGACAGAGTCAGTGTGTCTGTTACCTATTTCTCCTGTTTCACCCTGTCCATTTCTCTTTGATGTGCCATTCATGCCTTGAGCCTCACTTTCACCTCAGCCCACGGCACCAGGCCCCAGGCCCTGTCTCCTTCCCTATTCAGGTAGGCTTGATCACATTCATGGCCCTGGTAGGCAGCTTTGTGCCAGCAGAGGAGGCCGAAATTGGGGCAGTAGACGCCATCTTCACACGAATTCATAGCTGCGAATCCATCTCCCTTGGCCTCTCCACCTTCATGATCGACCTCAACCAGGTCAAAGGGAACAAAGGGAGGTGGGATTGAGGAAGGGGATAATGGGAAAGGAACCCCTGAAAATGCTCATAACAGGAAAGCATGCCCTCTGCTGCATGCCCTTTATACTAAAAGTGGGGAGCACTAAGGTCAGAGATAAGAAGAATCAATACCATAAACATTTCTTGAACCCTTGTTTCATGTGAGTCACTGTTGGCAAAGAGGATGAACAAAGCGTGCACCTCACCATTCAAGAACTTGCAGTGCAGTAGGGAGGGCATGTATACAGCTTTATTCACAGGCCAACTGTGGTCAGTGCGTTACGGGCTTCCAATACTAACTTTCCCTTGTCCACCTTATACCCAGCAGGTGGCGAAAGCAGTGAACAATGCCACTGCACAGTCGCTGGTCCTTATTGATGAATTTGGAAAGGGAACCAACACGGTGAGGGGAGAAACTGATGAGGGGAGAAACTAAGGAGGGGAAAATGGAGGAGGATGAAGGAGCATGACAGTGAGGCTGGGCCTCTGGAATGGAATAGGGCTGTGTGGGCAGAAAAGAAATAGAACACGAGACAGGGAAAGGCAGTGCAAGTGCAGAGGGGCATATGGGGTCCCCATGGCTCCGAATGCTAACCTCTGCCCTCTTTGCAGGTGGATGGGCTCGCGCTTCTGGCCGCTGTGCTCCGACACTGGCTGGCACGTG
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Task1_train_10119
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Gene VARS1 (valyl-tRNA synthetase 1) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
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GTTGGAGCTGGAGTGGAACCAGGGGGTGGGTGAGGACCCAGGTCCAAGTGAAGAGACCCCCAAACACCCAGGACAACAAAGTTGGAAAGATGAGCGAGGACCATGGGAGGTCAGTAGCTCAGAGGAGGCGTGAACCTGGCTGGCCTGGCTCCCCACCCATTCCCACCAGCACCCCCACTTCCACCACCACCTCTTGGGTCTTGCCTTTTTCCACCAAGTGGTGAGTCCCCAAGAACAAAGGAACCTCAGAGCCTACGTGTTCCCCATTCAGTGTCCCCACCTAAGCAGGAGAGCACAGTCTCCCAGGCCGGTCACTTCATTTGTCAGATGATGATGATGATATTGCCCCCCTCCCAGGGCTCTTGGGAGAACCAAGTGAGATTAACCACGTCCACTCAAGGCTCTCTAGCTCTTGGCCTCCATGACTGGTTTTCTCTGTGTCTGTGCAGTTTACTCCACTGCTTCTCTCTGGCGGAACCCAGGAGGCAGGGGACAAACAAGACTGGCCTTCCAGGGTCAGCCCAGTAGGCTTGAAAGTAAGTGGTGGGAGGCCCAGGGCTCCCCGACTACATGTGGACCCCAAGCCCAGCCCCAGGCATGCAGGTTTCCACATTTTGGGCAGCTGGGTGGGGTACGAAGGGTCTGGCTGGGAGATAGGATGCCTGGTTCTAGGTCAGCCTCCGTCTCCCACCTGTTGTGTGACCCTGGGTTGTGCCCAGCCCCCAGCTGCTCCCCATGTGTAAGGGGAGGGCCTTCTATGGTCCCTGCTCAAAGCGCCTGGGCTCCATGCTCCCCAGTGGATTCCCCAGGGTTGGGTACAGAGTCCAGCTTCCAGACCAGGATTGGTTTTTGTTTTGTTTTGTTTTTTTTCCAGACAGGGTCTTCTCTCTGTTGCCCAGGCTCAAGTGCAGTGGCATGATCTCGGCTCACTGCAGTCTTGACCTCCCAGGCTCAAGCAATCCGCCCACCTCAGCCCCCCGAGTAGCTGGGACCCCAAGTGTGTGCCACTATGGCCAGCTAATTTTTGTATTTTTGTTGTAGAGATGGGATTTCACCATGTTGGCTGGTCTCAAACCCCTGGGCTCAAGTGATCCACCCACCTTGGCCTCCCAAATTTCTGGGATTACAGGTGTGAGCCACTGAGCCAGGCTGTTTTGTTTTTTAAGGCTAGTGGGAGTGGAGAAGGAACAAAGAAATCTGTAACTGGTTACGATCAATTAGTTGTCAACACCACTGCACTCGGACCAGCCCAGACCAGGGTTTTGATGGAGGAAGGGGATGGTGTGGGAAATGCCCACCCAGGCCACACACCTTGGCTTCATCTGCCTCCTGGACTTCGAGCGGCACCTTGACAGGATAGCCCGAGGCAGCACGGCGTTCCCGCAGACGCTGGGCCTGCCGCTGGGCCTCAACTCGCTTGGCTTGCAGCTTGCCCAGCTCCCGTGCAGGGTCCACCAGCCCCTGAAGCTGCAGGTGGATGGAGCAGCGATCAGAAGCCAGAGCCACAGCGCAACCCTGGGGGGCGGGAGCCCCCAGGGCCAGAACAGCCACCACACCTGCGCTGGCCAGGGCCTGCACGTAGCCCGACACCGCCGATGCCAGGGCGCCCGTGGCCTCATCCGCCACTTCCAGGAAACCTGCCAGGGAGGGAGAAAGGTGAGGCCTAGCTCCATGGAGACAGGAAACCAAGCAGTCACTGCCGGACACTGGGTCCCAGAGTAGGCTGAGGGGACAGTGGGATGGGGCGGACATGGGGGCCTGAGGCTCACAGTCAGGCCGGATCCGGGTGAGGTTGTAGTCGGCCCGCAGGGAGCGCACGGCTCGCGTGATGCTTAGCGCCAGCTCAAGGGCGGCTTCTGCCTCGGGGTCCTTCCAGGAGCACTGTGGGGTGGAGGAGGGGGTGAGGGGGCCTGGAGGGCAGGTCAGACTCCCCTCTCCAGGCCATGCCATACCTCTGAGGGCTCCGGGTAGGGGGTAACACAGAGGCTAGGGGGAGCTTGCGGCATCCTCCGGGGCAGCCTCTGGAACAGCTCCTCCGTCACGAAGGGCATGAAGGGTGAGAGCAGCCGCAGGCCAACGTCCAGGCAAGTGTACAGGGTCTGGCGGGCACACTCAGCTGCCACCTGGTCCACCCCATTCAGTACAGGTTTCAGGCACTCCTAGGGGACGAGAGGTACAGGGCTCACGGCTGGAGGTCTAGCCTTGAGCCCTCGCTGTGCCTGTGAGGACTGGGAAGGGGATGGGTTGGCTTAGGTCTCAAGGCCAACTCTGGCAAAACTGAGCCCAGGGCTCTGCTGCCCACCTGCCCCCACCATCCCCTGCCCCGCTGTGCTCCTTCTCACCAAGTAGACATCACAGAGCTCATAGAGCCAGAAGCTGTACTGGGCAGTGGTGACGGCCGGGAAGTCGTAGGCCTGGAAGCCTTGATTGCTGAGCCTCACAGCCTCTGTCAGGCGGCTGCGGATCCAGCGGTCCACCAGGCTCTCATGGCCTCCGGGCTTGGGGAGAGAGGGTGTATCAGCCGGCGGGCCAGGGGAGGGTGCCAGAACCCCATGGGGGCAGGAGTCATGGGCAAATCTTCATCCAGAGTCTGATGAGTCCAAAGCAACCACCTATGTGCCAGGATCTGGGAAGAAGTGACAGGCCCCAGCCCCCAATGCGCTGGGCTTTCCCTTTAACTGTCTGTCTCTGTGTCTATCTGTCCCCCCAGCTACATGGAGGCTGCTCCGGACAGGGGTACAGCCTGTGTGAGTGCTGCCAGCTTTGCTGCCCACCAGGCCCTTACCTGGGAGGTGGGTGAGGGCACAAAACCCTTCCCAAGGCCACGAAGGGCAAACTTGGTGGCATTCCAGAGCTTGTTGCAGAAGTGGCGGTAACCCAGTATCCGGTTCACATCCAGGTTGATGTCACGACCTGGGTCGGGGGTGAGATGTGAGTCCTCATCACCCTCTTCCCAGCCCATGCCCACCAGAGGCTCAGGGTGGAGAAGAGGGATGGGCCTCACAGAAGGAGGAAGGAGTGGCTGGGAGGGACGCTTTGGGGGCCATACCCTGGGACATGTAGGCACATAATCCAAACCGGAGAGCATCGGTGCCACATTCAGGAATCCCCGCTGGGAAGTCAGCTTTCTACAGGGAAGAGGCAGGGGGAGGAGCGTCCTCAGCCAGCCCCATCCACGCTGTGCTCCTGCTTAGCCCAGCCCAACCCTCCATACCTGCCCTTCTTTGGCCTTCTCCACCTCGCTGGGATCCAGGTTGCTGTTCAGCAGCTGGTTGTGGAGGCCCTGAGGGTGGAGTGGGAGCAGTCAGGTGGCTGTGACCACAGCCCCACGGCCCTTCCTGGCTGGCCCAGCACCCAGCCCACCTGCAGGGAGATTCCATAGATGACGTCCAGGGGATCGATGACATTGCCTAGAGACTTGCTCATCTTCCGGCCGTGAGCATCTCGCACGATGGCATGGAGGTAGACCTGCAGAGCAGGTGGGGAGGCCCATGAGACTCAGTCCTCTCCTTCCCCGGCCTCAGTGCCCCGACCAGGACTGTGTCTGGTCTACCCCACTGTGAACCTCAGGTCCCACTGAGTGTCCCCAAGAGCTCGTTGAGCGCCTTTATGTGAATCAGAAGCACTCCTTCCTCTGGGAAGATGAAGCCCTGGGCACAGGAATCACTGAGCAGGGCCCAGGCTGGATTTCAACCCCACACCAGCCCCCGGGTCAGGCCTGCCCACAGCTAACCCCATGCCCCAGCCACGCGGGGTCTGCGCTGCAGCACAGGACGGTAGGAGAGGAGGCTGGGGGCGATGGGAGGGTCTCGGCTGTCTCCGCACCTCTCTAAAGGGCAGCCTGCCCGTGAGCTTCAGGCCCAGCATGACCATCCGGGCCACCCAGAAGAAGAGGATGTCATGACCGGTCTCCAGCAGTGTCCCGGGGTAGAACACACTCAGGTCTTCTGACTGAGGGCAGACCAGGGTGTGAAGGGGAGCCAACACCCACCCTCCAGTCCCCTGTCCCGCCAAGCCCCGGCCCCAGGAACACACCTGGTTGGGCCAGCCCAAAATGGATAAGGGGAAGAGGCCAGAGGAGAACCAGGTATCCAAT
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GTTGGAGCTGGAGTGGAACCAGGGGGTGGGTGAGGACCCAGGTCCAAGTGAAGAGACCCCCAAACACCCAGGACAACAAAGTTGGAAAGATGAGCGAGGACCATGGGAGGTCAGTAGCTCAGAGGAGGCGTGAACCTGGCTGGCCTGGCTCCCCACCCATTCCCACCAGCACCCCCACTTCCACCACCACCTCTTGGGTCTTGCCTTTTTCCACCAAGTGGTGAGTCCCCAAGAACAAAGGAACCTCAGAGCCTACGTGTTCCCCATTCAGTGTCCCCACCTAAGCAGGAGAGCACAGTCTCCCAGGCCGGTCACTTCATTTGTCAGATGATGATGATGATATTGCCCCCCTCCCAGGGCTCTTGGGAGAACCAAGTGAGATTAACCACGTCCACTCAAGGCTCTCTAGCTCTTGGCCTCCATGACTGGTTTTCTCTGTGTCTGTGCAGTTTACTCCACTGCTTCTCTCTGGCGGAACCCAGGAGGCAGGGGACAAACAAGACTGGCCTTCCAGGGTCAGCCCAGTAGGCTTGAAAGTAAGTGGTGGGAGGCCCAGGGCTCCCCGACTACATGTGGACCCCAAGCCCAGCCCCAGGCATGCAGGTTTCCACATTTTGGGCAGCTGGGTGGGGTACGAAGGGTCTGGCTGGGAGATAGGATGCCTGGTTCTAGGTCAGCCTCCGTCTCCCACCTGTTGTGTGACCCTGGGTTGTGCCCAGCCCCCAGCTGCTCCCCATGTGTAAGGGGAGGGCCTTCTATGGTCCCTGCTCAAAGCGCCTGGGCTCCATGCTCCCCAGTGGATTCCCCAGGGTTGGGTACAGAGTCCAGCTTCCAGACCAGGATTGGTTTTTGTTTTGTTTTGTTTTTTTTCCAGACAGGGTCTTCTCTCTGTTGCCCAGGCTCAAGTGCAGTGGCATGATCTCGGCTCACTGCAGTCTTGACCTCCCAGGCTCAAGCAATCCGCCCACCTCAGCCCCCCGAGTAGCTGGGACCCCAAGTGTGTGCCACTATGGCCAGCTAATTTTTGTATTTTTGTTGTAGAGATGGGATTTCACCATGTTGGCTGGTCTCAAACCCCTGGGCTCAAGTGATCCACCCACCTTGGCCTCCCAAATTTCTGGGATTACAGGTGTGAGCCACTGAGCCAGGCTGTTTTGTTTTTTAAGGCTAGTGGGAGTGGAGAAGGAACAAAGAAATCTGTAACTGGTTACGATCAATTAGTTGTCAACACCACTGCACTCGGACCAGCCCAGACCAGGGTTTTGATGGAGGAAGGGGATGGTGTGGGAAATGCCCACCCAGGCCACACACCTTGGCTTCATCTGCCTCCTGGACTTCGAGCGGCACCTTGACAGGATAGCCCGAGGCAGCACGGCGTTCCCGCAGACGCTGGGCCTGCCGCTGGGCCTCAACTCGCTTGGCTTGCAGCTTGCCCAGCTCCCGTGCAGGGTCCACCAGCCCCTGAAGCTGCAGGTGGATGGAGCAGCGATCAGAAGCCAGAGCCACAGCGCAACCCTGGGGGGCGGGAGCCCCCAGGGCCAGAACAGCCACCACACCTGCGCTGGCCAGGGCCTGCACGTAGCCCGACACCGCCGATGCCAGGGCGCCCGTGGCCTCATCCGCCACTTCCAGGAAACCTGCCAGGGAGGGAGAAAGGTGAGGCCTAGCTCCATGGAGACAGGAAACCAAGCAGTCACTGCCGGACACTGGGTCCCAGAGTAGGCTGAGGGGACAGTGGGATGGGGCGGACATGGGGGCCTGAGGCTCACAGTCAGGCCGGATCCGGGTGAGGTTGTAGTCGGCCCGCAGGGAGCGCACGGCTCGCGTGATGCTTAGCGCCAGCTCAAGGGCGGCTTCTGCCTCGGGGTCCTTCCAGGAGCACTGTGGGGTGGAGGAGGGGGTGAGGGGGCCTGGAGGGCAGGTCAGACTCCCCTCTCCAGGCCATGCCATACCTCTGAGGGCTCCGGGTAGGGGGTAACACAGAGGCTAGGGGGAGCTTGCGGCATCCTCCGGGGCAGCCTCTGGAACAGCTCCTCCGTCACGAAGGGTATGAAGGGTGAGAGCAGCCGCAGGCCAACGTCCAGGCAAGTGTACAGGGTCTGGCGGGCACACTCAGCTGCCACCTGGTCCACCCCATTCAGTACAGGTTTCAGGCACTCCTAGGGGACGAGAGGTACAGGGCTCACGGCTGGAGGTCTAGCCTTGAGCCCTCGCTGTGCCTGTGAGGACTGGGAAGGGGATGGGTTGGCTTAGGTCTCAAGGCCAACTCTGGCAAAACTGAGCCCAGGGCTCTGCTGCCCACCTGCCCCCACCATCCCCTGCCCCGCTGTGCTCCTTCTCACCAAGTAGACATCACAGAGCTCATAGAGCCAGAAGCTGTACTGGGCAGTGGTGACGGCCGGGAAGTCGTAGGCCTGGAAGCCTTGATTGCTGAGCCTCACAGCCTCTGTCAGGCGGCTGCGGATCCAGCGGTCCACCAGGCTCTCATGGCCTCCGGGCTTGGGGAGAGAGGGTGTATCAGCCGGCGGGCCAGGGGAGGGTGCCAGAACCCCATGGGGGCAGGAGTCATGGGCAAATCTTCATCCAGAGTCTGATGAGTCCAAAGCAACCACCTATGTGCCAGGATCTGGGAAGAAGTGACAGGCCCCAGCCCCCAATGCGCTGGGCTTTCCCTTTAACTGTCTGTCTCTGTGTCTATCTGTCCCCCCAGCTACATGGAGGCTGCTCCGGACAGGGGTACAGCCTGTGTGAGTGCTGCCAGCTTTGCTGCCCACCAGGCCCTTACCTGGGAGGTGGGTGAGGGCACAAAACCCTTCCCAAGGCCACGAAGGGCAAACTTGGTGGCATTCCAGAGCTTGTTGCAGAAGTGGCGGTAACCCAGTATCCGGTTCACATCCAGGTTGATGTCACGACCTGGGTCGGGGGTGAGATGTGAGTCCTCATCACCCTCTTCCCAGCCCATGCCCACCAGAGGCTCAGGGTGGAGAAGAGGGATGGGCCTCACAGAAGGAGGAAGGAGTGGCTGGGAGGGACGCTTTGGGGGCCATACCCTGGGACATGTAGGCACATAATCCAAACCGGAGAGCATCGGTGCCACATTCAGGAATCCCCGCTGGGAAGTCAGCTTTCTACAGGGAAGAGGCAGGGGGAGGAGCGTCCTCAGCCAGCCCCATCCACGCTGTGCTCCTGCTTAGCCCAGCCCAACCCTCCATACCTGCCCTTCTTTGGCCTTCTCCACCTCGCTGGGATCCAGGTTGCTGTTCAGCAGCTGGTTGTGGAGGCCCTGAGGGTGGAGTGGGAGCAGTCAGGTGGCTGTGACCACAGCCCCACGGCCCTTCCTGGCTGGCCCAGCACCCAGCCCACCTGCAGGGAGATTCCATAGATGACGTCCAGGGGATCGATGACATTGCCTAGAGACTTGCTCATCTTCCGGCCGTGAGCATCTCGCACGATGGCATGGAGGTAGACCTGCAGAGCAGGTGGGGAGGCCCATGAGACTCAGTCCTCTCCTTCCCCGGCCTCAGTGCCCCGACCAGGACTGTGTCTGGTCTACCCCACTGTGAACCTCAGGTCCCACTGAGTGTCCCCAAGAGCTCGTTGAGCGCCTTTATGTGAATCAGAAGCACTCCTTCCTCTGGGAAGATGAAGCCCTGGGCACAGGAATCACTGAGCAGGGCCCAGGCTGGATTTCAACCCCACACCAGCCCCCGGGTCAGGCCTGCCCACAGCTAACCCCATGCCCCAGCCACGCGGGGTCTGCGCTGCAGCACAGGACGGTAGGAGAGGAGGCTGGGGGCGATGGGAGGGTCTCGGCTGTCTCCGCACCTCTCTAAAGGGCAGCCTGCCCGTGAGCTTCAGGCCCAGCATGACCATCCGGGCCACCCAGAAGAAGAGGATGTCATGACCGGTCTCCAGCAGTGTCCCGGGGTAGAACACACTCAGGTCTTCTGACTGAGGGCAGACCAGGGTGTGAAGGGGAGCCAACACCCACCCTCCAGTCCCCTGTCCCGCCAAGCCCCGGCCCCAGGAACACACCTGGTTGGGCCAGCCCAAAATGGATAAGGGGAAGAGGCCAGAGGAGAACCAGGTATCCAAT
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Task1_train_10120
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A mutation on Chromosome 6 affecting VARS1 (valyl-tRNA synthetase 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
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TGCCTCGGGGTCCTTCCAGGAGCACTGTGGGGTGGAGGAGGGGGTGAGGGGGCCTGGAGGGCAGGTCAGACTCCCCTCTCCAGGCCATGCCATACCTCTGAGGGCTCCGGGTAGGGGGTAACACAGAGGCTAGGGGGAGCTTGCGGCATCCTCCGGGGCAGCCTCTGGAACAGCTCCTCCGTCACGAAGGGCATGAAGGGTGAGAGCAGCCGCAGGCCAACGTCCAGGCAAGTGTACAGGGTCTGGCGGGCACACTCAGCTGCCACCTGGTCCACCCCATTCAGTACAGGTTTCAGGCACTCCTAGGGGACGAGAGGTACAGGGCTCACGGCTGGAGGTCTAGCCTTGAGCCCTCGCTGTGCCTGTGAGGACTGGGAAGGGGATGGGTTGGCTTAGGTCTCAAGGCCAACTCTGGCAAAACTGAGCCCAGGGCTCTGCTGCCCACCTGCCCCCACCATCCCCTGCCCCGCTGTGCTCCTTCTCACCAAGTAGACATCACAGAGCTCATAGAGCCAGAAGCTGTACTGGGCAGTGGTGACGGCCGGGAAGTCGTAGGCCTGGAAGCCTTGATTGCTGAGCCTCACAGCCTCTGTCAGGCGGCTGCGGATCCAGCGGTCCACCAGGCTCTCATGGCCTCCGGGCTTGGGGAGAGAGGGTGTATCAGCCGGCGGGCCAGGGGAGGGTGCCAGAACCCCATGGGGGCAGGAGTCATGGGCAAATCTTCATCCAGAGTCTGATGAGTCCAAAGCAACCACCTATGTGCCAGGATCTGGGAAGAAGTGACAGGCCCCAGCCCCCAATGCGCTGGGCTTTCCCTTTAACTGTCTGTCTCTGTGTCTATCTGTCCCCCCAGCTACATGGAGGCTGCTCCGGACAGGGGTACAGCCTGTGTGAGTGCTGCCAGCTTTGCTGCCCACCAGGCCCTTACCTGGGAGGTGGGTGAGGGCACAAAACCCTTCCCAAGGCCACGAAGGGCAAACTTGGTGGCATTCCAGAGCTTGTTGCAGAAGTGGCGGTAACCCAGTATCCGGTTCACATCCAGGTTGATGTCACGACCTGGGTCGGGGGTGAGATGTGAGTCCTCATCACCCTCTTCCCAGCCCATGCCCACCAGAGGCTCAGGGTGGAGAAGAGGGATGGGCCTCACAGAAGGAGGAAGGAGTGGCTGGGAGGGACGCTTTGGGGGCCATACCCTGGGACATGTAGGCACATAATCCAAACCGGAGAGCATCGGTGCCACATTCAGGAATCCCCGCTGGGAAGTCAGCTTTCTACAGGGAAGAGGCAGGGGGAGGAGCGTCCTCAGCCAGCCCCATCCACGCTGTGCTCCTGCTTAGCCCAGCCCAACCCTCCATACCTGCCCTTCTTTGGCCTTCTCCACCTCGCTGGGATCCAGGTTGCTGTTCAGCAGCTGGTTGTGGAGGCCCTGAGGGTGGAGTGGGAGCAGTCAGGTGGCTGTGACCACAGCCCCACGGCCCTTCCTGGCTGGCCCAGCACCCAGCCCACCTGCAGGGAGATTCCATAGATGACGTCCAGGGGATCGATGACATTGCCTAGAGACTTGCTCATCTTCCGGCCGTGAGCATCTCGCACGATGGCATGGAGGTAGACCTGCAGAGCAGGTGGGGAGGCCCATGAGACTCAGTCCTCTCCTTCCCCGGCCTCAGTGCCCCGACCAGGACTGTGTCTGGTCTACCCCACTGTGAACCTCAGGTCCCACTGAGTGTCCCCAAGAGCTCGTTGAGCGCCTTTATGTGAATCAGAAGCACTCCTTCCTCTGGGAAGATGAAGCCCTGGGCACAGGAATCACTGAGCAGGGCCCAGGCTGGATTTCAACCCCACACCAGCCCCCGGGTCAGGCCTGCCCACAGCTAACCCCATGCCCCAGCCACGCGGGGTCTGCGCTGCAGCACAGGACGGTAGGAGAGGAGGCTGGGGGCGATGGGAGGGTCTCGGCTGTCTCCGCACCTCTCTAAAGGGCAGCCTGCCCGTGAGCTTCAGGCCCAGCATGACCATCCGGGCCACCCAGAAGAAGAGGATGTCATGACCGGTCTCCAGCAGTGTCCCGGGGTAGAACACACTCAGGTCTTCTGACTGAGGGCAGACCAGGGTGTGAAGGGGAGCCAACACCCACCCTCCAGTCCCCTGTCCCGCCAAGCCCCGGCCCCAGGAACACACCTGGTTGGGCCAGCCCAAAATGGATAAGGGGAAGAGGCCAGAGGAGAACCAGGTATCCAATACATCCTCATCTGAGAGAGGCCAAAGGTCAGAGGTCAGAGGGAGTGGAGCTCTGCCCCCCACAACTCCCTCCAGACCCTCAAAGCCCCGCCTTGCCTTGCTGGAGACTGATCTTGTCAGGGGACACTCCGAACTCCTTGGCTGCCTTCTCCCGGGCCTCCGCCTCATTGCGTCCACTCACCCAGTACCGCCCATCAGGGTCCTGCCACAGGTGCAGTGATTACCCAAGGGGGTGTGTCTGCTTCTGGCTCACCCTGCCCCTCCCCCCACCAAGGACCCAGTAAACCCACCACTCCAGCAGGGTGTCCCAGCAGCTAGCTCTGGCCCTCTGCTCACCTCCCCAGGGGGCACCGCTGGGTCACTGACAGTGACAAAGTAGGCTGGGATGCGATGGCCCCACCACAGCTGCCTGGAAATGCACCACTCCCTGCAAATGTCGGGGAGGAGAAATCAGGGAGGGCCTGATGGAGCCTGGCCCGAGTGAGCCCTGCTCAGCCCTCGGCAAGCCCCTCCCACACTGAGGACCCTACACACCGGATGTTGTCCATCCAGGCATGCCATGTGCGCTGATGGGCCTCAGGCAGGATGCGGAGGTCACCCCGAGTCACAGCGGCGCTGGCAGCCTGGGCCATCTCCCCGCAGCGAACGTACCACTGCGGCCGCAGCAGAGGCTCTACCACGTCCTTCGACCGGCTGGGGGTACACGTAGGTGAGAAGGCCAGGCGGTAAAACCCTGAGGAGCCCTCCATCTTCCTCCCGTCCCAGGCCCCCACCCTCACTTGCAAAGTGGCACCACCATGGGGTTGTCCTCAATGCCACGGAACAGTCCCCGCTCCTTCAGCGCCACCAGCACCGCTTTCCTGGCCTCAAACCTGGGCAGGCCCTGGGTAGGAATGAGGCCTCATCATGGCGATGCCCAGCCATCCCTCCATCTCCCTGACCCGGGCACTCTTGCCTCAGGCAGCCTCACCAGGAAAGGCGGAGGCACATTGATGAGGGCCCCCCGGGAGTCCATGATGCTGATGGCCTCCAGCCCGTGCCGCTGCCCAACTTCATAGTCATTTTGGTCATGTGCGGGGGTGATCTTCACAGCACCTGGGTGTACATCAGGATGCCCAGGTCATGAGGGACTCCACGGAGTTCCTTCCTACACTCACCTCTTTTGCTGAAGGATGTAGCTCCGAGACCACTCCTGGCCCCCACTTGTCTAATACAGTCCCTTGAGAACCACCCCAAGCTCTGTCTATTTGGCTGAAGCTTATTTTCTTTTTCTCTGAGAGAAGATGGACAGCTAGGGTGCAGCTCCAGTCTTTTCCTCTCCCCACAGGACCAGCCCCTTGCCCACCTGTGCCAAAGTCCATGTCCACAAATTCATCGAAGACAATGGGAAGGCTCCGAGACAGGAATGGGTGGATCACGTTCTTCCCCTTCAGGTGCTGGGGGCGGAAAGATACCAAAAACGCATGAAGCAGGGCCAGACGCCGTGATTCCCACCTGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGCCGGGAGTTGGAGACCAGCCTGGCCAACATGGGGAAACCTAGTCTCTACTAAAAATACAAAAAAAAAATTAGCCAGGTGTGGTGACGCGTGCCTGTAATCTCAGCTACTCAAGAGGCTGAGGCACAAGTACTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCTAGCCTGGGCGATAGAGTGAGACCCTCTCTCAAAAATAAATAAATAAATAAAAGCATGAAGGGGCCTGGTGCCATGGCTCACATCTCTAACCCCCACACTTTGGGAGGCTGGGGCAGGAGGCTTCCTTGA
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TGCCTCGGGGTCCTTCCAGGAGCACTGTGGGGTGGAGGAGGGGGTGAGGGGGCCTGGAGGGCAGGTCAGACTCCCCTCTCCAGGCCATGCCATACCTCTGAGGGCTCCGGGTAGGGGGTAACACAGAGGCTAGGGGGAGCTTGCGGCATCCTCCGGGGCAGCCTCTGGAACAGCTCCTCCGTCACGAAGGGCATGAAGGGTGAGAGCAGCCGCAGGCCAACGTCCAGGCAAGTGTACAGGGTCTGGCGGGCACACTCAGCTGCCACCTGGTCCACCCCATTCAGTACAGGTTTCAGGCACTCCTAGGGGACGAGAGGTACAGGGCTCACGGCTGGAGGTCTAGCCTTGAGCCCTCGCTGTGCCTGTGAGGACTGGGAAGGGGATGGGTTGGCTTAGGTCTCAAGGCCAACTCTGGCAAAACTGAGCCCAGGGCTCTGCTGCCCACCTGCCCCCACCATCCCCTGCCCCGCTGTGCTCCTTCTCACCAAGTAGACATCACAGAGCTCATAGAGCCAGAAGCTGTACTGGGCAGTGGTGACGGCCGGGAAGTCGTAGGCCTGGAAGCCTTGATTGCTGAGCCTCACAGCCTCTGTCAGGCGGCTGCGGATCCAGCGGTCCACCAGGCTCTCATGGCCTCCGGGCTTGGGGAGAGAGGGTGTATCAGCCGGCGGGCCAGGGGAGGGTGCCAGAACCCCATGGGGGCAGGAGTCATGGGCAAATCTTCATCCAGAGTCTGATGAGTCCAAAGCAACCACCTATGTGCCAGGATCTGGGAAGAAGTGACAGGCCCCAGCCCCCAATGCGCTGGGCTTTCCCTTTAACTGTCTGTCTCTGTGTCTATCTGTCCCCCCAGCTACATGGAGGCTGCTCCGGACAGGGGTACAGCCTGTGTGAGTGCTGCCAGCTTTGCTGCCCACCAGGCCCTTACCTGGGAGGTGGGTGAGGGCACAAAACCCTTCCCAAGGCCACGAAGGGCAAACTTGGTGGCATTCCAGAGCTTGTTGCAGAAGTGGCGGTAACCCAGTATCCGGTTCACATCCAGGTTGATGTCACGACCTGGGTCGGGGGTGAGATGTGAGTCCTCATCACCCTCTTCCCAGCCCATGCCCACCAGAGGCTCAGGGTGGAGAAGAGGGATGGGCCTCACAGAAGGAGGAAGGAGTGGCTGGGAGGGACGCTTTGGGGGCCATACCCTGGGACATGTAGGCACATAATCCAAACCGGAGAGCATCGGTGCCACATTCAGGAATCCCCGCTGGGAAGTCAGCTTTCTACAGGGAAGAGGCAGGGGGAGGAGCGTCCTCAGCCAGCCCCATCCACGCTGTGCTCCTGCTTAGCCCAGCCCAACCCTCCATACCTGCCCTTCTTTGGCCTTCTCCACCTCGCTGGGATCCAGGTTGCTGTTCAGCAGCTGGTTGTGGAGGCCCTGAGGGTGGAGTGGGAGCAGTCAGGTGGCTGTGACCACAGCCCCACGGCCCTTCCTGGCTGGCCCAGCACCCAGCCCACCTGCAGGGAGATTCCATAGATGACGTCCAGGGGATCGATGACATTGCCTAGAGACTTGCTCATCTTCCGGCCGTGAGCATCTCGCACGATGGCATGGAGGTAGACCTGCAGAGCAGGTGGGGAGGCCCATGAGACTCAGTCCTCTCCTTCCCCGGCCTCAGTGCCCCGACCAGGACTGTGTCTGGTCTACCCCACTGTGAACCTCAGGTCCCACTGAGTGTCCCCAAGAGCTCGTTGAGCGCCTTTATGTGAATCAGAAGCACTCCTTCCTCTGGGAAGATGAAGCCCTGGGCACAGGAATCACTGAGCAGGGCCCAGGCTGGATTTCAACCCCACACCAGCCCCCGGGTCAGGCCTGCCCACAGCTAACCCCATGCCCCAGCCACGCGGGGTCTGCGCTGCAGCACAGGACGGTAGGAGAGGAGGCTGGGGGCGATGGGAGGGTCTCGGCTGTCTCCGCACCTCTCTAAAGGGCAGCCTGCCCGTGAGCTTCAGGCCCAGCATGACCATCCGGGCCACCCAGAAGAAGAGGATGTCATGACTGGTCTCCAGCAGTGTCCCGGGGTAGAACACACTCAGGTCTTCTGACTGAGGGCAGACCAGGGTGTGAAGGGGAGCCAACACCCACCCTCCAGTCCCCTGTCCCGCCAAGCCCCGGCCCCAGGAACACACCTGGTTGGGCCAGCCCAAAATGGATAAGGGGAAGAGGCCAGAGGAGAACCAGGTATCCAATACATCCTCATCTGAGAGAGGCCAAAGGTCAGAGGTCAGAGGGAGTGGAGCTCTGCCCCCCACAACTCCCTCCAGACCCTCAAAGCCCCGCCTTGCCTTGCTGGAGACTGATCTTGTCAGGGGACACTCCGAACTCCTTGGCTGCCTTCTCCCGGGCCTCCGCCTCATTGCGTCCACTCACCCAGTACCGCCCATCAGGGTCCTGCCACAGGTGCAGTGATTACCCAAGGGGGTGTGTCTGCTTCTGGCTCACCCTGCCCCTCCCCCCACCAAGGACCCAGTAAACCCACCACTCCAGCAGGGTGTCCCAGCAGCTAGCTCTGGCCCTCTGCTCACCTCCCCAGGGGGCACCGCTGGGTCACTGACAGTGACAAAGTAGGCTGGGATGCGATGGCCCCACCACAGCTGCCTGGAAATGCACCACTCCCTGCAAATGTCGGGGAGGAGAAATCAGGGAGGGCCTGATGGAGCCTGGCCCGAGTGAGCCCTGCTCAGCCCTCGGCAAGCCCCTCCCACACTGAGGACCCTACACACCGGATGTTGTCCATCCAGGCATGCCATGTGCGCTGATGGGCCTCAGGCAGGATGCGGAGGTCACCCCGAGTCACAGCGGCGCTGGCAGCCTGGGCCATCTCCCCGCAGCGAACGTACCACTGCGGCCGCAGCAGAGGCTCTACCACGTCCTTCGACCGGCTGGGGGTACACGTAGGTGAGAAGGCCAGGCGGTAAAACCCTGAGGAGCCCTCCATCTTCCTCCCGTCCCAGGCCCCCACCCTCACTTGCAAAGTGGCACCACCATGGGGTTGTCCTCAATGCCACGGAACAGTCCCCGCTCCTTCAGCGCCACCAGCACCGCTTTCCTGGCCTCAAACCTGGGCAGGCCCTGGGTAGGAATGAGGCCTCATCATGGCGATGCCCAGCCATCCCTCCATCTCCCTGACCCGGGCACTCTTGCCTCAGGCAGCCTCACCAGGAAAGGCGGAGGCACATTGATGAGGGCCCCCCGGGAGTCCATGATGCTGATGGCCTCCAGCCCGTGCCGCTGCCCAACTTCATAGTCATTTTGGTCATGTGCGGGGGTGATCTTCACAGCACCTGGGTGTACATCAGGATGCCCAGGTCATGAGGGACTCCACGGAGTTCCTTCCTACACTCACCTCTTTTGCTGAAGGATGTAGCTCCGAGACCACTCCTGGCCCCCACTTGTCTAATACAGTCCCTTGAGAACCACCCCAAGCTCTGTCTATTTGGCTGAAGCTTATTTTCTTTTTCTCTGAGAGAAGATGGACAGCTAGGGTGCAGCTCCAGTCTTTTCCTCTCCCCACAGGACCAGCCCCTTGCCCACCTGTGCCAAAGTCCATGTCCACAAATTCATCGAAGACAATGGGAAGGCTCCGAGACAGGAATGGGTGGATCACGTTCTTCCCCTTCAGGTGCTGGGGGCGGAAAGATACCAAAAACGCATGAAGCAGGGCCAGACGCCGTGATTCCCACCTGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGCCGGGAGTTGGAGACCAGCCTGGCCAACATGGGGAAACCTAGTCTCTACTAAAAATACAAAAAAAAAATTAGCCAGGTGTGGTGACGCGTGCCTGTAATCTCAGCTACTCAAGAGGCTGAGGCACAAGTACTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCTAGCCTGGGCGATAGAGTGAGACCCTCTCTCAAAAATAAATAAATAAATAAAAGCATGAAGGGGCCTGGTGCCATGGCTCACATCTCTAACCCCCACACTTTGGGAGGCTGGGGCAGGAGGCTTCCTTGA
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Task1_train_10121
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A genetic alteration is present in VARS1 (valyl-tRNA synthetase 1) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
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TGCGCTGGGCTTTCCCTTTAACTGTCTGTCTCTGTGTCTATCTGTCCCCCCAGCTACATGGAGGCTGCTCCGGACAGGGGTACAGCCTGTGTGAGTGCTGCCAGCTTTGCTGCCCACCAGGCCCTTACCTGGGAGGTGGGTGAGGGCACAAAACCCTTCCCAAGGCCACGAAGGGCAAACTTGGTGGCATTCCAGAGCTTGTTGCAGAAGTGGCGGTAACCCAGTATCCGGTTCACATCCAGGTTGATGTCACGACCTGGGTCGGGGGTGAGATGTGAGTCCTCATCACCCTCTTCCCAGCCCATGCCCACCAGAGGCTCAGGGTGGAGAAGAGGGATGGGCCTCACAGAAGGAGGAAGGAGTGGCTGGGAGGGACGCTTTGGGGGCCATACCCTGGGACATGTAGGCACATAATCCAAACCGGAGAGCATCGGTGCCACATTCAGGAATCCCCGCTGGGAAGTCAGCTTTCTACAGGGAAGAGGCAGGGGGAGGAGCGTCCTCAGCCAGCCCCATCCACGCTGTGCTCCTGCTTAGCCCAGCCCAACCCTCCATACCTGCCCTTCTTTGGCCTTCTCCACCTCGCTGGGATCCAGGTTGCTGTTCAGCAGCTGGTTGTGGAGGCCCTGAGGGTGGAGTGGGAGCAGTCAGGTGGCTGTGACCACAGCCCCACGGCCCTTCCTGGCTGGCCCAGCACCCAGCCCACCTGCAGGGAGATTCCATAGATGACGTCCAGGGGATCGATGACATTGCCTAGAGACTTGCTCATCTTCCGGCCGTGAGCATCTCGCACGATGGCATGGAGGTAGACCTGCAGAGCAGGTGGGGAGGCCCATGAGACTCAGTCCTCTCCTTCCCCGGCCTCAGTGCCCCGACCAGGACTGTGTCTGGTCTACCCCACTGTGAACCTCAGGTCCCACTGAGTGTCCCCAAGAGCTCGTTGAGCGCCTTTATGTGAATCAGAAGCACTCCTTCCTCTGGGAAGATGAAGCCCTGGGCACAGGAATCACTGAGCAGGGCCCAGGCTGGATTTCAACCCCACACCAGCCCCCGGGTCAGGCCTGCCCACAGCTAACCCCATGCCCCAGCCACGCGGGGTCTGCGCTGCAGCACAGGACGGTAGGAGAGGAGGCTGGGGGCGATGGGAGGGTCTCGGCTGTCTCCGCACCTCTCTAAAGGGCAGCCTGCCCGTGAGCTTCAGGCCCAGCATGACCATCCGGGCCACCCAGAAGAAGAGGATGTCATGACCGGTCTCCAGCAGTGTCCCGGGGTAGAACACACTCAGGTCTTCTGACTGAGGGCAGACCAGGGTGTGAAGGGGAGCCAACACCCACCCTCCAGTCCCCTGTCCCGCCAAGCCCCGGCCCCAGGAACACACCTGGTTGGGCCAGCCCAAAATGGATAAGGGGAAGAGGCCAGAGGAGAACCAGGTATCCAATACATCCTCATCTGAGAGAGGCCAAAGGTCAGAGGTCAGAGGGAGTGGAGCTCTGCCCCCCACAACTCCCTCCAGACCCTCAAAGCCCCGCCTTGCCTTGCTGGAGACTGATCTTGTCAGGGGACACTCCGAACTCCTTGGCTGCCTTCTCCCGGGCCTCCGCCTCATTGCGTCCACTCACCCAGTACCGCCCATCAGGGTCCTGCCACAGGTGCAGTGATTACCCAAGGGGGTGTGTCTGCTTCTGGCTCACCCTGCCCCTCCCCCCACCAAGGACCCAGTAAACCCACCACTCCAGCAGGGTGTCCCAGCAGCTAGCTCTGGCCCTCTGCTCACCTCCCCAGGGGGCACCGCTGGGTCACTGACAGTGACAAAGTAGGCTGGGATGCGATGGCCCCACCACAGCTGCCTGGAAATGCACCACTCCCTGCAAATGTCGGGGAGGAGAAATCAGGGAGGGCCTGATGGAGCCTGGCCCGAGTGAGCCCTGCTCAGCCCTCGGCAAGCCCCTCCCACACTGAGGACCCTACACACCGGATGTTGTCCATCCAGGCATGCCATGTGCGCTGATGGGCCTCAGGCAGGATGCGGAGGTCACCCCGAGTCACAGCGGCGCTGGCAGCCTGGGCCATCTCCCCGCAGCGAACGTACCACTGCGGCCGCAGCAGAGGCTCTACCACGTCCTTCGACCGGCTGGGGGTACACGTAGGTGAGAAGGCCAGGCGGTAAAACCCTGAGGAGCCCTCCATCTTCCTCCCGTCCCAGGCCCCCACCCTCACTTGCAAAGTGGCACCACCATGGGGTTGTCCTCAATGCCACGGAACAGTCCCCGCTCCTTCAGCGCCACCAGCACCGCTTTCCTGGCCTCAAACCTGGGCAGGCCCTGGGTAGGAATGAGGCCTCATCATGGCGATGCCCAGCCATCCCTCCATCTCCCTGACCCGGGCACTCTTGCCTCAGGCAGCCTCACCAGGAAAGGCGGAGGCACATTGATGAGGGCCCCCCGGGAGTCCATGATGCTGATGGCCTCCAGCCCGTGCCGCTGCCCAACTTCATAGTCATTTTGGTCATGTGCGGGGGTGATCTTCACAGCACCTGGGTGTACATCAGGATGCCCAGGTCATGAGGGACTCCACGGAGTTCCTTCCTACACTCACCTCTTTTGCTGAAGGATGTAGCTCCGAGACCACTCCTGGCCCCCACTTGTCTAATACAGTCCCTTGAGAACCACCCCAAGCTCTGTCTATTTGGCTGAAGCTTATTTTCTTTTTCTCTGAGAGAAGATGGACAGCTAGGGTGCAGCTCCAGTCTTTTCCTCTCCCCACAGGACCAGCCCCTTGCCCACCTGTGCCAAAGTCCATGTCCACAAATTCATCGAAGACAATGGGAAGGCTCCGAGACAGGAATGGGTGGATCACGTTCTTCCCCTTCAGGTGCTGGGGGCGGAAAGATACCAAAAACGCATGAAGCAGGGCCAGACGCCGTGATTCCCACCTGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGCCGGGAGTTGGAGACCAGCCTGGCCAACATGGGGAAACCTAGTCTCTACTAAAAATACAAAAAAAAAATTAGCCAGGTGTGGTGACGCGTGCCTGTAATCTCAGCTACTCAAGAGGCTGAGGCACAAGTACTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCTAGCCTGGGCGATAGAGTGAGACCCTCTCTCAAAAATAAATAAATAAATAAAAGCATGAAGGGGCCTGGTGCCATGGCTCACATCTCTAACCCCCACACTTTGGGAGGCTGGGGCAGGAGGCTTCCTTGAGGCCAGGAGTTCAAGATCAGCATGGTTAACAGAGTGAGACCTTGTCTCTATTTAACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCAAGGCTGGAGTGCAGCAGAGTGATCTCAGCTCACTGCAACCTCCGCATCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACCCGCCACTACAACTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTAGTCTCGAACTCGTGACCTTATGATTCACCTGCCTCAGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCTATTTAACTTTTTAAAAATGCACGAAGGGCTGGGCCCAAGTCCTTCCTTTCCAGGGCCCTGACTATCCCAACACTTGAACTCCCCCAAACAGTCCCCAATAGCTCTACCCTCAGAGCTGGGAAAGAAGCTGAAGACCAGTTTCTAACCCAGTTTCCTCTCCTCAGCCAGGGGCCTAAGTCCAACCCCTCCACCCCATAAGGATGGGAGCCCTTTTTGGCCAGAACTCCTTCCCTAACTGTGGACAGTCCCCCACCTGGTATCTGGTATCTTTGGGGTGCACAGCTACAGCCACATCTCCCAGCATTGTCTCGATCCGAGTTGTTGCCACCACCACCTCCTCGTCGCTATCTGGGGTGACAGAAGGCCTTGTGGTCTTGGCCTTGGCCCCTTCCTGCCACTCCCAGCCCAGGATCCTGGTGCCCCTGGCTCCTACCTGAGCCTTGGACCT
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TGCGCTGGGCTTTCCCTTTAACTGTCTGTCTCTGTGTCTATCTGTCCCCCCAGCTACATGGAGGCTGCTCCGGACAGGGGTACAGCCTGTGTGAGTGCTGCCAGCTTTGCTGCCCACCAGGCCCTTACCTGGGAGGTGGGTGAGGGCACAAAACCCTTCCCAAGGCCACGAAGGGCAAACTTGGTGGCATTCCAGAGCTTGTTGCAGAAGTGGCGGTAACCCAGTATCCGGTTCACATCCAGGTTGATGTCACGACCTGGGTCGGGGGTGAGATGTGAGTCCTCATCACCCTCTTCCCAGCCCATGCCCACCAGAGGCTCAGGGTGGAGAAGAGGGATGGGCCTCACAGAAGGAGGAAGGAGTGGCTGGGAGGGACGCTTTGGGGGCCATACCCTGGGACATGTAGGCACATAATCCAAACCGGAGAGCATCGGTGCCACATTCAGGAATCCCCGCTGGGAAGTCAGCTTTCTACAGGGAAGAGGCAGGGGGAGGAGCGTCCTCAGCCAGCCCCATCCACGCTGTGCTCCTGCTTAGCCCAGCCCAACCCTCCATACCTGCCCTTCTTTGGCCTTCTCCACCTCGCTGGGATCCAGGTTGCTGTTCAGCAGCTGGTTGTGGAGGCCCTGAGGGTGGAGTGGGAGCAGTCAGGTGGCTGTGACCACAGCCCCACGGCCCTTCCTGGCTGGCCCAGCACCCAGCCCACCTGCAGGGAGATTCCATAGATGACGTCCAGGGGATCGATGACATTGCCTAGAGACTTGCTCATCTTCCGGCCGTGAGCATCTCGCACGATGGCATGGAGGTAGACCTGCAGAGCAGGTGGGGAGGCCCATGAGACTCAGTCCTCTCCTTCCCCGGCCTCAGTGCCCCGACCAGGACTGTGTCTGGTCTACCCCACTGTGAACCTCAGGTCCCACTGAGTGTCCCCAAGAGCTCGTTGAGCGCCTTTATGTGAATCAGAAGCACTCCTTCCTCTGGGAAGATGAAGCCCTGGGCACAGGAATCACTGAGCAGGGCCCAGGCTGGATTTCAACCCCACACCAGCCCCCGGGTCAGGCCTGCCCACAGCTAACCCCATGCCCCAGCCACGCGGGGTCTGCGCTGCAGCACAGGACGGTAGGAGAGGAGGCTGGGGGCGATGGGAGGGTCTCGGCTGTCTCCGCACCTCTCTAAAGGGCAGCCTGCCCGTGAGCTTCAGGCCCAGCATGACCATCCGGGCCACCCAGAAGAAGAGGATGTCATGACCGGTCTCCAGCAGTGTCCCGGGGTAGAACACACTCAGGTCTTCTGACTGAGGGCAGACCAGGGTGTGAAGGGGAGCCAACACCCACCCTCCAGTCCCCTGTCCCGCCAAGCCCCGGCCCCAGGAACACACCTGGTTGGGCCAGCCCAAAATGGATAAGGGGAAGAGGCCAGAGGAGAACCAGGTATCCAATACATCCTCATCTGAGAGAGGCCAAAGGTCAGAGGTCAGAGGGAGTGGAGCTCTGCCCCCCACAACTCCCTCCAGACCCTCAAAGCCCCGCCTTGCCTTGCTGGAGACTGATCTTGTCAGGGGACACTCCGAACTCCTTGGCTGCCTTCTCCCGGGCCTCCGCCTCATTGCGTCCACTCACCCAGTACCGCCCATCAGGGTCCTGCCACAGGTGCAGTGATTACCCAAGGGGGTGTGTCTGCTTCTGGCTCACCCTGCCCCTCCCCCCACCAAGGACCCAGTAAACCCACCACTCCAGCAGGGTGTCCCAGCAGCTAGCTCTGGCCCTCTGCTCACCTCCCCAGGGGGCACCGCTGGGTCACTGACAGTGACAAAGTAGGCTGGGATGCGATGGCCCCACCACAGCTGCCTGGAAATGCACCACTCCCTGCAAATGTCGGGGAGGAGAAATCAGGGAGGGCCTGATGGAGCCTGGCCCGAGTGAGCCCTGCTCAGCCCTCGGCAAGCCCCTCCCACACTGAGGACCCTACACACCGGATGTTGTCCATCCAGGCATGCCATGTGCGCTGATGGGCCTCAGGCAGGATGCGGAGGTCACCCCGAGTCACAGGGGCGCTGGCAGCCTGGGCCATCTCCCCGCAGCGAACGTACCACTGCGGCCGCAGCAGAGGCTCTACCACGTCCTTCGACCGGCTGGGGGTACACGTAGGTGAGAAGGCCAGGCGGTAAAACCCTGAGGAGCCCTCCATCTTCCTCCCGTCCCAGGCCCCCACCCTCACTTGCAAAGTGGCACCACCATGGGGTTGTCCTCAATGCCACGGAACAGTCCCCGCTCCTTCAGCGCCACCAGCACCGCTTTCCTGGCCTCAAACCTGGGCAGGCCCTGGGTAGGAATGAGGCCTCATCATGGCGATGCCCAGCCATCCCTCCATCTCCCTGACCCGGGCACTCTTGCCTCAGGCAGCCTCACCAGGAAAGGCGGAGGCACATTGATGAGGGCCCCCCGGGAGTCCATGATGCTGATGGCCTCCAGCCCGTGCCGCTGCCCAACTTCATAGTCATTTTGGTCATGTGCGGGGGTGATCTTCACAGCACCTGGGTGTACATCAGGATGCCCAGGTCATGAGGGACTCCACGGAGTTCCTTCCTACACTCACCTCTTTTGCTGAAGGATGTAGCTCCGAGACCACTCCTGGCCCCCACTTGTCTAATACAGTCCCTTGAGAACCACCCCAAGCTCTGTCTATTTGGCTGAAGCTTATTTTCTTTTTCTCTGAGAGAAGATGGACAGCTAGGGTGCAGCTCCAGTCTTTTCCTCTCCCCACAGGACCAGCCCCTTGCCCACCTGTGCCAAAGTCCATGTCCACAAATTCATCGAAGACAATGGGAAGGCTCCGAGACAGGAATGGGTGGATCACGTTCTTCCCCTTCAGGTGCTGGGGGCGGAAAGATACCAAAAACGCATGAAGCAGGGCCAGACGCCGTGATTCCCACCTGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGCCGGGAGTTGGAGACCAGCCTGGCCAACATGGGGAAACCTAGTCTCTACTAAAAATACAAAAAAAAAATTAGCCAGGTGTGGTGACGCGTGCCTGTAATCTCAGCTACTCAAGAGGCTGAGGCACAAGTACTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCTAGCCTGGGCGATAGAGTGAGACCCTCTCTCAAAAATAAATAAATAAATAAAAGCATGAAGGGGCCTGGTGCCATGGCTCACATCTCTAACCCCCACACTTTGGGAGGCTGGGGCAGGAGGCTTCCTTGAGGCCAGGAGTTCAAGATCAGCATGGTTAACAGAGTGAGACCTTGTCTCTATTTAACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCAAGGCTGGAGTGCAGCAGAGTGATCTCAGCTCACTGCAACCTCCGCATCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACCCGCCACTACAACTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTAGTCTCGAACTCGTGACCTTATGATTCACCTGCCTCAGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCTATTTAACTTTTTAAAAATGCACGAAGGGCTGGGCCCAAGTCCTTCCTTTCCAGGGCCCTGACTATCCCAACACTTGAACTCCCCCAAACAGTCCCCAATAGCTCTACCCTCAGAGCTGGGAAAGAAGCTGAAGACCAGTTTCTAACCCAGTTTCCTCTCCTCAGCCAGGGGCCTAAGTCCAACCCCTCCACCCCATAAGGATGGGAGCCCTTTTTGGCCAGAACTCCTTCCCTAACTGTGGACAGTCCCCCACCTGGTATCTGGTATCTTTGGGGTGCACAGCTACAGCCACATCTCCCAGCATTGTCTCGATCCGAGTTGTTGCCACCACCACCTCCTCGTCGCTATCTGGGGTGACAGAAGGCCTTGTGGTCTTGGCCTTGGCCCCTTCCTGCCACTCCCAGCCCAGGATCCTGGTGCCCCTGGCTCCTACCTGAGCCTTGGACCT
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Task1_train_10122
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A variant on Chromosome 6 in gene VARS1 (valyl-tRNA synthetase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
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CTGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGCCGGGAGTTGGAGACCAGCCTGGCCAACATGGGGAAACCTAGTCTCTACTAAAAATACAAAAAAAAAATTAGCCAGGTGTGGTGACGCGTGCCTGTAATCTCAGCTACTCAAGAGGCTGAGGCACAAGTACTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCTAGCCTGGGCGATAGAGTGAGACCCTCTCTCAAAAATAAATAAATAAATAAAAGCATGAAGGGGCCTGGTGCCATGGCTCACATCTCTAACCCCCACACTTTGGGAGGCTGGGGCAGGAGGCTTCCTTGAGGCCAGGAGTTCAAGATCAGCATGGTTAACAGAGTGAGACCTTGTCTCTATTTAACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCAAGGCTGGAGTGCAGCAGAGTGATCTCAGCTCACTGCAACCTCCGCATCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACCCGCCACTACAACTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTAGTCTCGAACTCGTGACCTTATGATTCACCTGCCTCAGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCTATTTAACTTTTTAAAAATGCACGAAGGGCTGGGCCCAAGTCCTTCCTTTCCAGGGCCCTGACTATCCCAACACTTGAACTCCCCCAAACAGTCCCCAATAGCTCTACCCTCAGAGCTGGGAAAGAAGCTGAAGACCAGTTTCTAACCCAGTTTCCTCTCCTCAGCCAGGGGCCTAAGTCCAACCCCTCCACCCCATAAGGATGGGAGCCCTTTTTGGCCAGAACTCCTTCCCTAACTGTGGACAGTCCCCCACCTGGTATCTGGTATCTTTGGGGTGCACAGCTACAGCCACATCTCCCAGCATTGTCTCGATCCGAGTTGTTGCCACCACCACCTCCTCGTCGCTATCTGGGGTGACAGAAGGCCTTGTGGTCTTGGCCTTGGCCCCTTCCTGCCACTCCCAGCCCAGGATCCTGGTGCCCCTGGCTCCTACCTGAGCCTTGGACCTTATAGGCAAAGGACACGAGGACCCCGAACTCCACCTTCTCCTTGTAGCCAGGCACGGAGAGCAGGGTGCGACCTGTCAGCTCCTTCTTATCCACCTGTAAAATGGGTATTTAGAGGCGTGGCCCAGGGGCCAGGGCCAGGGCCAGGGTAGATTGGAGATGGAGACAGGCCAGGTTGGGGGGCGCACCTCAATGTCAGAGATGGCGGAGTTGAGGGTGCAGGACCAGTTAACAAGGCGGGTACTGCGATAGATGATGCCTTCCTCGTGAAGCCGGACAAAGGCCTCTGTCACAGCTGCTGAGAGTTTCTGGGGTGGAGGAGGGAGAAGTCAGAGAGATGGGCCTTGTGCCTGGAGGCCCAGGCAGACACCCAGGGCTCCAGTGAGGCCTTGCCCATACAGAGTCCCACTGGCCAGCACAAAGACCCCTCTGAGGGGAGTACTTTCCTTCTTTCCTTGAGGGGGAGAGAGGACTAAGGGAACACAAGAGCAGGCAACAAGCCTTGTAATGCTGCAGATGGCGAGGAAGACAATCAGCTGGGGACAAGTACTGGTGCAGAGGACACTGGGAGTTCAGGCTCCATGGGAGACGGGGTCCTGATCATGTGCCATCTGGAGGAATCTGGAGCTCCCAGAGCCAAGACAGGGAACATGAAGGGCCATGATATGGAAAGGGCCATGGCGAGGGGTGGGAAGTGGCATTTGCAGCTGAGCCCTCCATGGTGTTTTACATGGGCCAGCTCCTGAGAGAGGGCCACAACACCTCTGCTTTCTCCTGTGGGGGTCCCACCCTGGGGAGACTCCTACTCCTGCCCCAGCTTTGACACTCCTCCCACGCACAGGGTCCATGGTGAAACAGGCTCGATCCCAGTCCAAGGAGCTGCCAAGCTTCTTCAACTGGTGGTAAATCCGGTCACCTTTCCTGGAAGCAGACAGGCTGAGGTCAGCACTCGTGCCTGGGCTAGAGGGAGACATCAGGTGGCTGACTGGGCAGTGTGGAGATCACCCATCCCCCTGAAATTTACCTGGGCCCTAGAGCCAACTGACTCTGCCTCTGTGGGAGGGTCTGACCCTGTGGCCAAGGGGTTACAGGTGACAGAGGTCTTCTGGATAGGGGACAGGGAGGCAGGGCTGCGATGCCCACAGGGATGCTGCATACTCACTCCTCCTTCCACTTCCAGACTTCCTGTAGAAAGGCCTCGCGGCCCAGCTGGTGCCGGCTCAGTCCCTGCTCACGCCATAGCTTCTTCTCCACCACCACCTGGGTGGCAATACCTGCATGGTCACAGCCAGGGTTCCACAGGGTGGTCTCCCCACGCATGCGGTGCCTGTTAGGGGGCATGGAGGACCAGAGGGTGAGCCAGGCCAGTGGGGCCTGGCACCAAAGAAAGCAGAGGCTTCAGGCAAGGAGTCAGTGGACTAAATAAAGAAGCAGGGAGGCCGGACGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGTGGATCACCTCAGGTGGGGGAGTTCGAGATGAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGTGGATCACCTGAGGTGGGGACTTCAAGATAAGCCTGGCCAATATGGTAAAACCCTGTCTGTATTAAAAATACAAAATTAGCTGGGCGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAAGCAGAGGTTGCAGCAAGCTGGGATCATGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCCAAAAAACAAACAAAAAAAAAAAGAAAGAAGCAGGGGTGGAGCTGGAACCCTTGTGATTCTAAAGCTAGTCAAGGAGAAAAGATTTGAAGGAAGAGCCAAGGCAATATGGAAAAAGAACAAAGACAGGCATGCGTGGTGGCTCACACCTGTAACCCCAGGACTTTGGGAGGCCAAGGCGAGTGGATCACTTGAGGACAGGAGTTCGAGACCAGCCTGACCAACATGGCAAGACCCTGTCTCTACCAAAAATATAAAAATTAGCCAGGATGGTGGTGCATACCTGTAATCCCAGCTACTTGGGAGGCTGAAGCACGAGAATCGCTTGAAGCTGGGAGGGGGAGGTTGCAGTGAGTTGAAATTGTGCCACTGCACTCCAGCCCGGATGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACGAAGAGGAGGCTCCTGCCAAACAGGATAGCAAAAGTTCTAATTGTTAAAATAAGTTACTAAACAGGAACAAAATAGTACCTGGAAACAGATACAAGCAAATTTAGTGTTTGTGAAAGTTGGCACTTCCTATCAGTAAAATAAGGATAAACTATTCAAAATGTTTGAAACAACTAGCTAATTATTTGGAAAAAATCTCCCCCTTACCAATAGTCACAAAAAGAAACTTTAGATAGATTAAAGAATTCAAGCCAGGCACAGTGGCTCAAGCCTATAACCCCAACACTTTGGGAGGCCAAGGTGAGAGGACTGCTTGAGCCCAGGAGTTGCAGACTAGCCTGGGCAACATAGTGAGACCTAGTCTCTGCAAAAAAAAAAAAAAAAAAGCCAGGCATGGTGGCGTGCACCTTTGTTCCCAGCTACTTGGGTGGCTGAGGTTGAGGCTGCACCAAGCTATGATTGTGCTGTGATCATGCCGATGCACTCCAATCTGGCCAACACAGTGAGAGAGACTCTGTCTCAAAAATAAATAAATAAACAAATAAATAAAAATAAAAAGTTGATATAACTCTATTCCATTAAAGTAATGGGAGTGTCTCACATTTTATTTAAACCACGTTCACTGGAAAAAAAATGTGGCTACCTT
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CTGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGCCGGGAGTTGGAGACCAGCCTGGCCAACATGGGGAAACCTAGTCTCTACTAAAAATACAAAAAAAAAATTAGCCAGGTGTGGTGACGCGTGCCTGTAATCTCAGCTACTCAAGAGGCTGAGGCACAAGTACTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCTAGCCTGGGCGATAGAGTGAGACCCTCTCTCAAAAATAAATAAATAAATAAAAGCATGAAGGGGCCTGGTGCCATGGCTCACATCTCTAACCCCCACACTTTGGGAGGCTGGGGCAGGAGGCTTCCTTGAGGCCAGGAGTTCAAGATCAGCATGGTTAACAGAGTGAGACCTTGTCTCTATTTAACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCAAGGCTGGAGTGCAGCAGAGTGATCTCAGCTCACTGCAACCTCCGCATCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCACCCGCCACTACAACTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTAGTCTCGAACTCGTGACCTTATGATTCACCTGCCTCAGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCTATTTAACTTTTTAAAAATGCACGAAGGGCTGGGCCCAAGTCCTTCCTTTCCAGGGCCCTGACTATCCCAACACTTGAACTCCCCCAAACAGTCCCCAATAGCTCTACCCTCAGAGCTGGGAAAGAAGCTGAAGACCAGTTTCTAACCCAGTTTCCTCTCCTCAGCCAGGGGCCTAAGTCCAACCCCTCCACCCCATAAGGATGGGAGCCCTTTTTGGCCAGAACTCCTTCCCTAACTGTGGACAGTCCCCCACCTGGTATCTGGTATCTTTGGGGTGCACAGCTACAGCCACATCTCCCAGCATTGTCTCGATCCGAGTTGTTGCCACCACCACCTCCTCGTCGCTATCTGGGGTGACAGAAGGCCTTGTGGTCTTGGCCTTGGCCCCTTCCTGCCACTCCCAGCCCAGGATCCTGGTGCCCCTGGCTCCTACCTGAGCCTTGGACCTTATAGGCAAAGGACACGAGGACCCCGAACTCCACCTTCTCCTTGTAGCCAGGCACGGAGAGCAGGGTGCGACCTGTCAGCTCCTTCTTATCCACCTGTAAAATGGGTATTTAGAGGCGTGGCCCAGGGGCCAGGGCCAGGGCCAGGGTAGATTGGAGATGGAGACAGGCCAGGTTGGGGGGCGCACCTCAATGTCAGAGATGGCGGAGTTGAGGGTGCAGGACCAGTTAACAAGGCGGGTACTGCGATAGATGATGCCTTCCTCGTGAAGCCGGACAAAGGCCTCTGTCACAGCTGCTGAGAGTTTCTGGGGTGGAGGAGGGAGAAGTCAGAGAGATGGGCCTTGTGCCTGGAGGCCCAGGCAGACACCCAGGGCTCCAGTGAGGCCTTGCCCATACAGAGTCCCACTGGCCAGCACAAAGACCCCTCTGAGGGGAGTACTTTCCTTCTTTCCTTGAGGGGGAGAGAGGACTAAGGGAACACAAGAGCAGGCAACAAGCCTTGTAATGCTGCAGATGGCGAGGAAGACAATCAGCTGGGGACAAGTACTGGTGCAGAGGACACTGGGAGTTCAGGCTCCATGGGAGACGGGGTCCTGATCATGTGCCATCTGGAGGAATCTGGAGCTCCCAGAGCCAAGACAGGGAACATGAAGGGCCATGATATGGAAAGGGCCATGGCGAGGGGTGGGAAGTGGCATTTGCAGCTGAGCCCTCCATGGTGTTTTACATGGGCCAGCTCCTGAGAGAGGGCCACAACACCTCTGCTTTCTCCTGTGGGGGTCCCACCCTGGGGAGACTCCTACTCCTGCCCCAGCTTTGACACTCCTCCCACGCACAGGGTCCATGGTGAAACAGGCTCGATCCCAGTCCAAGGAGCTGCCAACCTTCTTCAACTGGTGGTAAATCCGGTCACCTTTCCTGGAAGCAGACAGGCTGAGGTCAGCACTCGTGCCTGGGCTAGAGGGAGACATCAGGTGGCTGACTGGGCAGTGTGGAGATCACCCATCCCCCTGAAATTTACCTGGGCCCTAGAGCCAACTGACTCTGCCTCTGTGGGAGGGTCTGACCCTGTGGCCAAGGGGTTACAGGTGACAGAGGTCTTCTGGATAGGGGACAGGGAGGCAGGGCTGCGATGCCCACAGGGATGCTGCATACTCACTCCTCCTTCCACTTCCAGACTTCCTGTAGAAAGGCCTCGCGGCCCAGCTGGTGCCGGCTCAGTCCCTGCTCACGCCATAGCTTCTTCTCCACCACCACCTGGGTGGCAATACCTGCATGGTCACAGCCAGGGTTCCACAGGGTGGTCTCCCCACGCATGCGGTGCCTGTTAGGGGGCATGGAGGACCAGAGGGTGAGCCAGGCCAGTGGGGCCTGGCACCAAAGAAAGCAGAGGCTTCAGGCAAGGAGTCAGTGGACTAAATAAAGAAGCAGGGAGGCCGGACGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGTGGATCACCTCAGGTGGGGGAGTTCGAGATGAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGTGGATCACCTGAGGTGGGGACTTCAAGATAAGCCTGGCCAATATGGTAAAACCCTGTCTGTATTAAAAATACAAAATTAGCTGGGCGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAAGCAGAGGTTGCAGCAAGCTGGGATCATGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCCAAAAAACAAACAAAAAAAAAAAGAAAGAAGCAGGGGTGGAGCTGGAACCCTTGTGATTCTAAAGCTAGTCAAGGAGAAAAGATTTGAAGGAAGAGCCAAGGCAATATGGAAAAAGAACAAAGACAGGCATGCGTGGTGGCTCACACCTGTAACCCCAGGACTTTGGGAGGCCAAGGCGAGTGGATCACTTGAGGACAGGAGTTCGAGACCAGCCTGACCAACATGGCAAGACCCTGTCTCTACCAAAAATATAAAAATTAGCCAGGATGGTGGTGCATACCTGTAATCCCAGCTACTTGGGAGGCTGAAGCACGAGAATCGCTTGAAGCTGGGAGGGGGAGGTTGCAGTGAGTTGAAATTGTGCCACTGCACTCCAGCCCGGATGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACGAAGAGGAGGCTCCTGCCAAACAGGATAGCAAAAGTTCTAATTGTTAAAATAAGTTACTAAACAGGAACAAAATAGTACCTGGAAACAGATACAAGCAAATTTAGTGTTTGTGAAAGTTGGCACTTCCTATCAGTAAAATAAGGATAAACTATTCAAAATGTTTGAAACAACTAGCTAATTATTTGGAAAAAATCTCCCCCTTACCAATAGTCACAAAAAGAAACTTTAGATAGATTAAAGAATTCAAGCCAGGCACAGTGGCTCAAGCCTATAACCCCAACACTTTGGGAGGCCAAGGTGAGAGGACTGCTTGAGCCCAGGAGTTGCAGACTAGCCTGGGCAACATAGTGAGACCTAGTCTCTGCAAAAAAAAAAAAAAAAAAGCCAGGCATGGTGGCGTGCACCTTTGTTCCCAGCTACTTGGGTGGCTGAGGTTGAGGCTGCACCAAGCTATGATTGTGCTGTGATCATGCCGATGCACTCCAATCTGGCCAACACAGTGAGAGAGACTCTGTCTCAAAAATAAATAAATAAACAAATAAATAAAAATAAAAAGTTGATATAACTCTATTCCATTAAAGTAATGGGAGTGTCTCACATTTTATTTAAACCACGTTCACTGGAAAAAAAATGTGGCTACCTT
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Task1_train_10123
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A variant has been detected on Chromosome 6 in NEU1 (neuraminidase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; not provided
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ATGGTATCCTACCCCATGTTAGAAATATAAAACAGCGTGGATTTTTTTTTTTTCAGACGGAGTCTCACTCTGTTGCCGAGGCTGGTGTGCAGTGCTGTGATCTCAGCTCACTGCAAACTCCGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCACCTGAGTAGCTGGGACTATAAGTGTAAGCCAACACGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATATGTGTGAGCCACCACGCTTGGCCAAGTGTGGATTTTAAAATATCTTACAGGCTGGGTGCAGGGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGAACATGGCCGGCAGATTGCTTGAGCTCAGCAGTTTGAGACCAACCTAGGCAATATAGTGAGACTTTGTCTCTACTAAAAATTAAAAAAATCAGCCCGCCGGCACCATGGCTCATGCTTGTAATCACAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCA
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ATGGTATCCTACCCCATGTTAGAAATATAAAACAGCGTGGATTTTTTTTTTTTCAGACGGAGTCTCACTCTGTTGCCGAGGCTGGTGTGCAGTGCTGTGATCTCAGCTCACTGCAAACTCCGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCACCTGAGTAGCTGGGACTATAAGTGTAAGCCAACACGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATATGTGTGAGCCACCACGCTTGGCCAAGTGTGGATTTTAAAATATCTTACAGGCTGGGTGCAGGGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGAACATGGCCGGCAGATTGCTTGAGCTCAGCAGTTTGAGACCAACCTAGGCAATATAGTGAGACTTTGTCTCTACTAAAAATTAAAAAAATCAGCCCGCCGGCACCATGGCTCATGCTTGTAATCACAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATGGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCA
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Task1_train_10124
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With a mutation on Chromosome 6 in gene NEU1 (neuraminidase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; not provided
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TTTTTCAGACGGAGTCTCACTCTGTTGCCGAGGCTGGTGTGCAGTGCTGTGATCTCAGCTCACTGCAAACTCCGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCACCTGAGTAGCTGGGACTATAAGTGTAAGCCAACACGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATATGTGTGAGCCACCACGCTTGGCCAAGTGTGGATTTTAAAATATCTTACAGGCTGGGTGCAGGGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGAACATGGCCGGCAGATTGCTTGAGCTCAGCAGTTTGAGACCAACCTAGGCAATATAGTGAGACTTTGTCTCTACTAAAAATTAAAAAAATCAGCCCGCCGGCACCATGGCTCATGCTTGTAATCACAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGC
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TTTTTCAGACGGAGTCTCACTCTGTTGCCGAGGCTGGTGTGCAGTGCTGTGATCTCAGCTCACTGCAAACTCCGCCTCCTGGTTCAAGTGATTCTCCTGCCTCAGCCACCTGAGTAGCTGGGACTATAAGTGTAAGCCAACACGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATATGTGTGAGCCACCACGCTTGGCCAAGTGTGGATTTTAAAATATCTTACAGGCTGGGTGCAGGGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGAACATGGCCGGCAGATTGCTTGAGCTCAGCAGTTTGAGACCAACCTAGGCAATATAGTGAGACTTTGTCTCTACTAAAAATTAAAAAAATCAGCCCGCCGGCACCATGGCTCATGCTTGTAATCACAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATTGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGC
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Task1_train_10125
|
This variant affects the gene NEU1 (neuraminidase 1) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Sialidosis
|
TTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATATGTGTGAGCCACCACGCTTGGCCAAGTGTGGATTTTAAAATATCTTACAGGCTGGGTGCAGGGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGAACATGGCCGGCAGATTGCTTGAGCTCAGCAGTTTGAGACCAACCTAGGCAATATAGTGAGACTTTGTCTCTACTAAAAATTAAAAAAATCAGCCCGCCGGCACCATGGCTCATGCTTGTAATCACAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTC
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TTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATATGTGTGAGCCACCACGCTTGGCCAAGTGTGGATTTTAAAATATCTTACAGGCTGGGTGCAGGGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGAACATGGCCGGCAGATTGCTTGAGCTCAGCAGTTTGAGACCAACCTAGGCAATATAGTGAGACTTTGTCTCTACTAAAAATTAAAAAAATCAGCCCGCCGGCACCATGGCTCATGCTTGTAATCACAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCTGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTC
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Task1_train_10126
|
An alteration has been detected in NEU1 (neuraminidase 1) on Chromosome 6. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Sialidosis type 1
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TGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATATGTGTGAGCCACCACGCTTGGCCAAGTGTGGATTTTAAAATATCTTACAGGCTGGGTGCAGGGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGAACATGGCCGGCAGATTGCTTGAGCTCAGCAGTTTGAGACCAACCTAGGCAATATAGTGAGACTTTGTCTCTACTAAAAATTAAAAAAATCAGCCCGCCGGCACCATGGCTCATGCTTGTAATCACAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAG
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TGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATATGTGTGAGCCACCACGCTTGGCCAAGTGTGGATTTTAAAATATCTTACAGGCTGGGTGCAGGGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGAACATGGCCGGCAGATTGCTTGAGCTCAGCAGTTTGAGACCAACCTAGGCAATATAGTGAGACTTTGTCTCTACTAAAAATTAAAAAAATCAGCCCGCCGGCACCATGGCTCATGCTTGTAATCACAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGAGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAG
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Task1_train_10127
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A variant was discovered on Chromosome 6, affecting NEU1 (neuraminidase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; not provided
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CTGGGTGCAGGGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGAACATGGCCGGCAGATTGCTTGAGCTCAGCAGTTTGAGACCAACCTAGGCAATATAGTGAGACTTTGTCTCTACTAAAAATTAAAAAAATCAGCCCGCCGGCACCATGGCTCATGCTTGTAATCACAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGAT
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CTGGGTGCAGGGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGAACATGGCCGGCAGATTGCTTGAGCTCAGCAGTTTGAGACCAACCTAGGCAATATAGTGAGACTTTGTCTCTACTAAAAATTAAAAAAATCAGCCCGCCGGCACCATGGCTCATGCTTGTAATCACAACACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGGCTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGAT
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Task1_train_10128
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This gene mutation involves NEU1 (neuraminidase 1) on Chromosome 6. Is it associated with any clinical condition, or is it benign?
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Pathogenic; not provided
|
GACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAG
|
GACCAGCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGTAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAG
|
Task1_train_10129
|
A genomic change on Chromosome 6 affects NEU1 (neuraminidase 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; not provided
|
TAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAGAAAGAAAAGGGTCCTGTCGCGGAAAGTCGGCTCAGCCGCCCGCGTTCCGGGG
|
TAGCCGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCTGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAGAAAGAAAAGGGTCCTGTCGCGGAAAGTCGGCTCAGCCGCCCGCGTTCCGGGG
|
Task1_train_10130
|
Given this context: Chromosome 6, gene NEU1 (neuraminidase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Sialidosis type 2
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GTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAGAAAGAAAAGGGTCCTGTCGCGGAAAGTCGGCTCAGCCGCCCGCGTTCCGGGGGACACTAGG
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GTGGTGGTGGGCACCTGTAATCCCAGCTATTCGGGAAGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCGGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAGAAAGAAAAGGGTCCTGTCGCGGAAAGTCGGCTCAGCCGCCCGCGTTCCGGGGGACACTAGG
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Task1_train_10131
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The gene NEU1 (neuraminidase 1) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Sialidosis
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TGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAGAAAGAAAAGGGTCCTGTCGCGGAAAGTCGGCTCAGCCGCCCGCGTTCCGGGGGACACTAGGTGTCGATCACCTGCGCGGGTCGGGGATGGGGCTATGCAA
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TGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCTGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAGAAAGAAAAGGGTCCTGTCGCGGAAAGTCGGCTCAGCCGCCCGCGTTCCGGGGGACACTAGGTGTCGATCACCTGCGCGGGTCGGGGATGGGGCTATGCAA
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Task1_train_10132
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Assess the clinical impact of this variant on gene NEU1 (neuraminidase 1), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Sialidosis type 2
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TGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAGAAAGAAAAGGGTCCTGTCGCGGAAAGTCGGCTCAGCCGCCCGCGTTCCGGGGGACACTAGGTGTCGATCACCTGCGCGGGTCGGGGATGGGGCTATGCAA
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TGAGGCAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCTGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAGAAAGAAAAGGGTCCTGTCGCGGAAAGTCGGCTCAGCCGCCCGCGTTCCGGGGGACACTAGGTGTCGATCACCTGCGCGGGTCGGGGATGGGGCTATGCAA
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Task1_train_10133
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This sequence variant lies in NEU1 (neuraminidase 1) on Chromosome 6. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Sialidosis type 2
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CAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAGAAAGAAAAGGGTCCTGTCGCGGAAAGTCGGCTCAGCCGCCCGCGTTCCGGGGGACACTAGGTGTCGATCACCTGCGCGGGTCGGGGATGGGGCTATGCAAAGGGT
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CAGAAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGCCAGAGCAAGACTCCATCTCAAAAAAAAAAAAATTAAATTAAAAAATAAATAAATAAAAAATAAAAAATATCTTATGGCACTCCCTTCATACTCATTACACCTGTGAAGATCAACCTGTTTCTCGGTGATAAGAAGGAATGTAGGCTGGGTGCGGTGGCTCATAGCTGTAACCTCAGCACTTTGGGAAGCTGAGGCATGAGGATTGCTTAAGCACAGGAGTTCCATACCAGCCTGGGCAACATAGCGCAACCTTGTCTCTACTGAAAATAAAAATTAAAAAAATTAACCAGGCATGGTGTCACTGACCTGTAGTCCCAACTACTCCGGAGGCTGAGACGTGAGGATCACTTGAGCCCAGGAGGTTGAGGCTTCAGTGAGCCGTGATTGTGCAACTGCACTCCAGCCTGGGTGACAGAGCGAGCCCTGTCTCAAAAAAAGCAACAACAAAAAAAGAGGGCATGTCAAAAGGAAAAGAGGATTTGATTTGCCAAAGTCAGATTTTCACAGGCAGTACGCACATCAGGTCTCTCCCCAGAACTCACCCAGGCTCACAAGGATACATGAGGAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCGGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAGAAAGAAAAGGGTCCTGTCGCGGAAAGTCGGCTCAGCCGCCCGCGTTCCGGGGGACACTAGGTGTCGATCACCTGCGCGGGTCGGGGATGGGGCTATGCAAAGGGT
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Task1_train_10134
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This gene mutation involves NEU1 (neuraminidase 1) on Chromosome 6. Is it associated with any clinical condition, or is it benign?
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Pathogenic; not provided
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GAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAGAAAGAAAAGGGTCCTGTCGCGGAAAGTCGGCTCAGCCGCCCGCGTTCCGGGGGACACTAGGTGTCGATCACCTGCGCGGGTCGGGGATGGGGCTATGCAAAGGGTGACTCACCAGACCGAAGTCGTTCTCAGCCTTGGACCAGGAGGCTGCCAGAGACAGCAGCAGGAAGATCGCGGCAAACACCCAAACCCTACAGCCTCCCCAGAAGCCCAGAATCCGCGGCCCCCAGCGTCTGTCCGGGAGCGCCGTGCTGGGTCGCTCCCCAGTCATCTCTCCCCGCAGCTGCCGCGACCCTGGCAGCTAGACTCCACAGAGTCGGGAGTCAGCTGACCCGGACCCTTTAAAGCGCAGATGTCACCCTTAAGCCCGCCCCGGTCTGGAGGCCCCGCCGCGCTTCCCGGACTCTAATTGGTCTTCAAGTAGCTCATCTCCTCCCACGTGATCACGCAGCATCTCGAAGCTTGCCCTTCCGATTGGCCCTCTTGGAGGCCCTCTTGGAGGCCCGGAGCGCGTGACCCGAACGGGAAGCGGACTGGCTGGGGTGAAGAAGGGACTGGCACCATCCTTATTGGGCTTTTTGATTGGCCGCGGCACCAGGACACGTCACAGGGGCGGGGCCGATTTTAAAGAGCCGGGCGCGGAAAAAAAAAGGCCGCCTGTCGTCGTGGAGAGAATGAGTCACAGATTTACTGAGTTAACAAAATATCTTTAATAAAATCTTTTTGTTTGTTTGTTTTGTTTTGGA
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GAAAACAGACACGAAGATGTGCATTGACAGAACCATAGAGACTCTACAAATATTCATTATCCTTCATTAAAAATTTTAAGTTACAAACATTTTGATTGATAGTCAGTCATGGTGGTGCACCTAGTCCTTACTCTGAAACCAAATATCCTGCCATCTGGGGACTTTCACCAGCCCTGTCGGTTATCTTACCGCAACACCAAAGAGGAGGCTCAGCCTTCCCCAGTTCCCTGAGTTCACATTGATTCAATTCTACAGCTCACTAGACCTGCCCAAGACAGGACCAATCAATGTCCCGGGAGGGCAGAGAGGGTGGTGGGGCCACACTTAGCCATATGGAAAGACAGTATTCTCAGATGAGGGCAGGACTTTTTTGTGGGAGAGGACGCCTAGCTTTCAGTCCTAAAGGAAGTGATTTCCCTGGTAAAGGGAAGGTGATTTTGCCAAGGCTGGAGTCTAAAGGAAGATGGAACTGTCTTTCAGGCGTCTCCAGCAGACCCTCTACAGACCCGTGTTCCTGAAGGCAGAGTCCTGAAGGCAGAATACCCCTGTGGCAGTGGCACAGCTCAGAGTGTCCCATAGACACTGATTTTGGCCACGGAGATGCTCTCTGTGTAGTGGTTCCGGCCTTTCTCATACAGGACGTAGAGCTGGGGGGCCTGCTCCTCTCCATCCATGCTGCCCTCCAGGGTTGCCAGGGATGAATAGCCACTGGGGCCTGGCCATAGCTGGACTGTCTCTTTCCGCCATGAGGTACCATTGCTGAAGCTCCATCGCAGGGTCAGGTTCACTCCTGGGGAGAGCAGGAGAGTCAGGGAGAGAGGGTCTCTGCCCAGGCCTTGTCTAGACACAGGGCTCTCCCTGCTGACCCCACCCATGAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCAGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAGAAAGAAAAGGGTCCTGTCGCGGAAAGTCGGCTCAGCCGCCCGCGTTCCGGGGGACACTAGGTGTCGATCACCTGCGCGGGTCGGGGATGGGGCTATGCAAAGGGTGACTCACCAGACCGAAGTCGTTCTCAGCCTTGGACCAGGAGGCTGCCAGAGACAGCAGCAGGAAGATCGCGGCAAACACCCAAACCCTACAGCCTCCCCAGAAGCCCAGAATCCGCGGCCCCCAGCGTCTGTCCGGGAGCGCCGTGCTGGGTCGCTCCCCAGTCATCTCTCCCCGCAGCTGCCGCGACCCTGGCAGCTAGACTCCACAGAGTCGGGAGTCAGCTGACCCGGACCCTTTAAAGCGCAGATGTCACCCTTAAGCCCGCCCCGGTCTGGAGGCCCCGCCGCGCTTCCCGGACTCTAATTGGTCTTCAAGTAGCTCATCTCCTCCCACGTGATCACGCAGCATCTCGAAGCTTGCCCTTCCGATTGGCCCTCTTGGAGGCCCTCTTGGAGGCCCGGAGCGCGTGACCCGAACGGGAAGCGGACTGGCTGGGGTGAAGAAGGGACTGGCACCATCCTTATTGGGCTTTTTGATTGGCCGCGGCACCAGGACACGTCACAGGGGCGGGGCCGATTTTAAAGAGCCGGGCGCGGAAAAAAAAAGGCCGCCTGTCGTCGTGGAGAGAATGAGTCACAGATTTACTGAGTTAACAAAATATCTTTAATAAAATCTTTTTGTTTGTTTGTTTTGTTTTGGA
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Task1_train_10135
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The gene NEU1 (neuraminidase 1) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Sialidosis type 2
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GAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAGAAAGAAAAGGGTCCTGTCGCGGAAAGTCGGCTCAGCCGCCCGCGTTCCGGGGGACACTAGGTGTCGATCACCTGCGCGGGTCGGGGATGGGGCTATGCAAAGGGTGACTCACCAGACCGAAGTCGTTCTCAGCCTTGGACCAGGAGGCTGCCAGAGACAGCAGCAGGAAGATCGCGGCAAACACCCAAACCCTACAGCCTCCCCAGAAGCCCAGAATCCGCGGCCCCCAGCGTCTGTCCGGGAGCGCCGTGCTGGGTCGCTCCCCAGTCATCTCTCCCCGCAGCTGCCGCGACCCTGGCAGCTAGACTCCACAGAGTCGGGAGTCAGCTGACCCGGACCCTTTAAAGCGCAGATGTCACCCTTAAGCCCGCCCCGGTCTGGAGGCCCCGCCGCGCTTCCCGGACTCTAATTGGTCTTCAAGTAGCTCATCTCCTCCCACGTGATCACGCAGCATCTCGAAGCTTGCCCTTCCGATTGGCCCTCTTGGAGGCCCTCTTGGAGGCCCGGAGCGCGTGACCCGAACGGGAAGCGGACTGGCTGGGGTGAAGAAGGGACTGGCACCATCCTTATTGGGCTTTTTGATTGGCCGCGGCACCAGGACACGTCACAGGGGCGGGGCCGATTTTAAAGAGCCGGGCGCGGAAAAAAAAAGGCCGCCTGTCGTCGTGGAGAGAATGAGTCACAGATTTACTGAGTTAACAAAATATCTTTAATAAAATCTTTTTGTTTGTTTGTTTTGTTTTGGAGACAGAGTCTGTCACCCAGGTTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCATGCCACCACTCTCGGCTAATTTTTGTATTTTTAATAGAGACGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTCAGGTGATCCGCCCGCCTCAGCCTCTCAAAGTGTTGGATTACAGGCGTGAGCCACGGCGCCTGGCCTAAAACCTTTTTTTACCACAAAATGGAGACCTGTAAGGCGAAGTGAGGTTGGATGGCTGGACGGTGGGGGTGGGGTGCAGTCCTGGATCAGGGCCGGAGCTGTCACTTCTTCCTCTTCTTGTTGTCCGGGGGCGCCTCGTTCTTCTTGCCCAGAATCTTTAGAAGGCTCTTGGACATGTAGTAGGGCCGGTCCAGGGAGCCGTTGTTCCGCTCCAGGTCTTCCACTGAGCCGCAACAGAGACCGGTTAGAGCGGACCCTGGGGCCAGGAAATCGGGGACTGGGAGGCAAGCTGCCTGCGGGATTTGGAATCCAAGCTGCACCACCACCCTTACCCCCGGGCAGGTTATGTAATCTCAGTTTCCTCCTGTGAAGTGGGGTCGGGAATATTATGTTGCATAGAGCGATGATAAGAATTAGCGGAAAAAATGCATGTCAGTCGCTTAGGAGGAGACTGGCAAACCCTGAATGGATGCATGCTGTAGAGTAAGAAAATCCCCTGCCGCTACAGCCACCTGCTGGGAAGTCTCTCTAATGGCTCTTTTTTTTTTTTAATCTTTTTTCTTTGTTTTGAGACGGAGTCTTGCTGTCGCCCAAGCTGAAG
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GAGGCACTCACGGAACTCTGGATGTGCTGGGTTGGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGCGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAGAAAGAAAAGGGTCCTGTCGCGGAAAGTCGGCTCAGCCGCCCGCGTTCCGGGGGACACTAGGTGTCGATCACCTGCGCGGGTCGGGGATGGGGCTATGCAAAGGGTGACTCACCAGACCGAAGTCGTTCTCAGCCTTGGACCAGGAGGCTGCCAGAGACAGCAGCAGGAAGATCGCGGCAAACACCCAAACCCTACAGCCTCCCCAGAAGCCCAGAATCCGCGGCCCCCAGCGTCTGTCCGGGAGCGCCGTGCTGGGTCGCTCCCCAGTCATCTCTCCCCGCAGCTGCCGCGACCCTGGCAGCTAGACTCCACAGAGTCGGGAGTCAGCTGACCCGGACCCTTTAAAGCGCAGATGTCACCCTTAAGCCCGCCCCGGTCTGGAGGCCCCGCCGCGCTTCCCGGACTCTAATTGGTCTTCAAGTAGCTCATCTCCTCCCACGTGATCACGCAGCATCTCGAAGCTTGCCCTTCCGATTGGCCCTCTTGGAGGCCCTCTTGGAGGCCCGGAGCGCGTGACCCGAACGGGAAGCGGACTGGCTGGGGTGAAGAAGGGACTGGCACCATCCTTATTGGGCTTTTTGATTGGCCGCGGCACCAGGACACGTCACAGGGGCGGGGCCGATTTTAAAGAGCCGGGCGCGGAAAAAAAAAGGCCGCCTGTCGTCGTGGAGAGAATGAGTCACAGATTTACTGAGTTAACAAAATATCTTTAATAAAATCTTTTTGTTTGTTTGTTTTGTTTTGGAGACAGAGTCTGTCACCCAGGTTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCATGCCACCACTCTCGGCTAATTTTTGTATTTTTAATAGAGACGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTCAGGTGATCCGCCCGCCTCAGCCTCTCAAAGTGTTGGATTACAGGCGTGAGCCACGGCGCCTGGCCTAAAACCTTTTTTTACCACAAAATGGAGACCTGTAAGGCGAAGTGAGGTTGGATGGCTGGACGGTGGGGGTGGGGTGCAGTCCTGGATCAGGGCCGGAGCTGTCACTTCTTCCTCTTCTTGTTGTCCGGGGGCGCCTCGTTCTTCTTGCCCAGAATCTTTAGAAGGCTCTTGGACATGTAGTAGGGCCGGTCCAGGGAGCCGTTGTTCCGCTCCAGGTCTTCCACTGAGCCGCAACAGAGACCGGTTAGAGCGGACCCTGGGGCCAGGAAATCGGGGACTGGGAGGCAAGCTGCCTGCGGGATTTGGAATCCAAGCTGCACCACCACCCTTACCCCCGGGCAGGTTATGTAATCTCAGTTTCCTCCTGTGAAGTGGGGTCGGGAATATTATGTTGCATAGAGCGATGATAAGAATTAGCGGAAAAAATGCATGTCAGTCGCTTAGGAGGAGACTGGCAAACCCTGAATGGATGCATGCTGTAGAGTAAGAAAATCCCCTGCCGCTACAGCCACCTGCTGGGAAGTCTCTCTAATGGCTCTTTTTTTTTTTTAATCTTTTTTCTTTGTTTTGAGACGGAGTCTTGCTGTCGCCCAAGCTGAAG
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Task1_train_10136
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This mutation is located in gene NEU1 (neuraminidase 1) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; not provided
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GGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAGAAAGAAAAGGGTCCTGTCGCGGAAAGTCGGCTCAGCCGCCCGCGTTCCGGGGGACACTAGGTGTCGATCACCTGCGCGGGTCGGGGATGGGGCTATGCAAAGGGTGACTCACCAGACCGAAGTCGTTCTCAGCCTTGGACCAGGAGGCTGCCAGAGACAGCAGCAGGAAGATCGCGGCAAACACCCAAACCCTACAGCCTCCCCAGAAGCCCAGAATCCGCGGCCCCCAGCGTCTGTCCGGGAGCGCCGTGCTGGGTCGCTCCCCAGTCATCTCTCCCCGCAGCTGCCGCGACCCTGGCAGCTAGACTCCACAGAGTCGGGAGTCAGCTGACCCGGACCCTTTAAAGCGCAGATGTCACCCTTAAGCCCGCCCCGGTCTGGAGGCCCCGCCGCGCTTCCCGGACTCTAATTGGTCTTCAAGTAGCTCATCTCCTCCCACGTGATCACGCAGCATCTCGAAGCTTGCCCTTCCGATTGGCCCTCTTGGAGGCCCTCTTGGAGGCCCGGAGCGCGTGACCCGAACGGGAAGCGGACTGGCTGGGGTGAAGAAGGGACTGGCACCATCCTTATTGGGCTTTTTGATTGGCCGCGGCACCAGGACACGTCACAGGGGCGGGGCCGATTTTAAAGAGCCGGGCGCGGAAAAAAAAAGGCCGCCTGTCGTCGTGGAGAGAATGAGTCACAGATTTACTGAGTTAACAAAATATCTTTAATAAAATCTTTTTGTTTGTTTGTTTTGTTTTGGAGACAGAGTCTGTCACCCAGGTTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCATGCCACCACTCTCGGCTAATTTTTGTATTTTTAATAGAGACGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTCAGGTGATCCGCCCGCCTCAGCCTCTCAAAGTGTTGGATTACAGGCGTGAGCCACGGCGCCTGGCCTAAAACCTTTTTTTACCACAAAATGGAGACCTGTAAGGCGAAGTGAGGTTGGATGGCTGGACGGTGGGGGTGGGGTGCAGTCCTGGATCAGGGCCGGAGCTGTCACTTCTTCCTCTTCTTGTTGTCCGGGGGCGCCTCGTTCTTCTTGCCCAGAATCTTTAGAAGGCTCTTGGACATGTAGTAGGGCCGGTCCAGGGAGCCGTTGTTCCGCTCCAGGTCTTCCACTGAGCCGCAACAGAGACCGGTTAGAGCGGACCCTGGGGCCAGGAAATCGGGGACTGGGAGGCAAGCTGCCTGCGGGATTTGGAATCCAAGCTGCACCACCACCCTTACCCCCGGGCAGGTTATGTAATCTCAGTTTCCTCCTGTGAAGTGGGGTCGGGAATATTATGTTGCATAGAGCGATGATAAGAATTAGCGGAAAAAATGCATGTCAGTCGCTTAGGAGGAGACTGGCAAACCCTGAATGGATGCATGCTGTAGAGTAAGAAAATCCCCTGCCGCTACAGCCACCTGCTGGGAAGTCTCTCTAATGGCTCTTTTTTTTTTTTAATCTTTTTTCTTTGTTTTGAGACGGAGTCTTGCTGTCGCCCAAGCTGAAGTGCAGTAGCGCAATCTCGGCTCGCTGCAACCTC
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GGAGAAGAAGACAATGCCGGAGCTGGTGACTACAGCTCCTGCAGCTACCACAGGGTCCACGAGCTCAGGGTCGAAGGTCACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCAGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAGAAAGAAAAGGGTCCTGTCGCGGAAAGTCGGCTCAGCCGCCCGCGTTCCGGGGGACACTAGGTGTCGATCACCTGCGCGGGTCGGGGATGGGGCTATGCAAAGGGTGACTCACCAGACCGAAGTCGTTCTCAGCCTTGGACCAGGAGGCTGCCAGAGACAGCAGCAGGAAGATCGCGGCAAACACCCAAACCCTACAGCCTCCCCAGAAGCCCAGAATCCGCGGCCCCCAGCGTCTGTCCGGGAGCGCCGTGCTGGGTCGCTCCCCAGTCATCTCTCCCCGCAGCTGCCGCGACCCTGGCAGCTAGACTCCACAGAGTCGGGAGTCAGCTGACCCGGACCCTTTAAAGCGCAGATGTCACCCTTAAGCCCGCCCCGGTCTGGAGGCCCCGCCGCGCTTCCCGGACTCTAATTGGTCTTCAAGTAGCTCATCTCCTCCCACGTGATCACGCAGCATCTCGAAGCTTGCCCTTCCGATTGGCCCTCTTGGAGGCCCTCTTGGAGGCCCGGAGCGCGTGACCCGAACGGGAAGCGGACTGGCTGGGGTGAAGAAGGGACTGGCACCATCCTTATTGGGCTTTTTGATTGGCCGCGGCACCAGGACACGTCACAGGGGCGGGGCCGATTTTAAAGAGCCGGGCGCGGAAAAAAAAAGGCCGCCTGTCGTCGTGGAGAGAATGAGTCACAGATTTACTGAGTTAACAAAATATCTTTAATAAAATCTTTTTGTTTGTTTGTTTTGTTTTGGAGACAGAGTCTGTCACCCAGGTTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCATGCCACCACTCTCGGCTAATTTTTGTATTTTTAATAGAGACGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTCAGGTGATCCGCCCGCCTCAGCCTCTCAAAGTGTTGGATTACAGGCGTGAGCCACGGCGCCTGGCCTAAAACCTTTTTTTACCACAAAATGGAGACCTGTAAGGCGAAGTGAGGTTGGATGGCTGGACGGTGGGGGTGGGGTGCAGTCCTGGATCAGGGCCGGAGCTGTCACTTCTTCCTCTTCTTGTTGTCCGGGGGCGCCTCGTTCTTCTTGCCCAGAATCTTTAGAAGGCTCTTGGACATGTAGTAGGGCCGGTCCAGGGAGCCGTTGTTCCGCTCCAGGTCTTCCACTGAGCCGCAACAGAGACCGGTTAGAGCGGACCCTGGGGCCAGGAAATCGGGGACTGGGAGGCAAGCTGCCTGCGGGATTTGGAATCCAAGCTGCACCACCACCCTTACCCCCGGGCAGGTTATGTAATCTCAGTTTCCTCCTGTGAAGTGGGGTCGGGAATATTATGTTGCATAGAGCGATGATAAGAATTAGCGGAAAAAATGCATGTCAGTCGCTTAGGAGGAGACTGGCAAACCCTGAATGGATGCATGCTGTAGAGTAAGAAAATCCCCTGCCGCTACAGCCACCTGCTGGGAAGTCTCTCTAATGGCTCTTTTTTTTTTTTAATCTTTTTTCTTTGTTTTGAGACGGAGTCTTGCTGTCGCCCAAGCTGAAGTGCAGTAGCGCAATCTCGGCTCGCTGCAACCTC
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Task1_train_10137
|
This mutation occurs in NEU1 (neuraminidase 1) on Chromosome 6. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; not specified
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ACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCACCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAGAAAGAAAAGGGTCCTGTCGCGGAAAGTCGGCTCAGCCGCCCGCGTTCCGGGGGACACTAGGTGTCGATCACCTGCGCGGGTCGGGGATGGGGCTATGCAAAGGGTGACTCACCAGACCGAAGTCGTTCTCAGCCTTGGACCAGGAGGCTGCCAGAGACAGCAGCAGGAAGATCGCGGCAAACACCCAAACCCTACAGCCTCCCCAGAAGCCCAGAATCCGCGGCCCCCAGCGTCTGTCCGGGAGCGCCGTGCTGGGTCGCTCCCCAGTCATCTCTCCCCGCAGCTGCCGCGACCCTGGCAGCTAGACTCCACAGAGTCGGGAGTCAGCTGACCCGGACCCTTTAAAGCGCAGATGTCACCCTTAAGCCCGCCCCGGTCTGGAGGCCCCGCCGCGCTTCCCGGACTCTAATTGGTCTTCAAGTAGCTCATCTCCTCCCACGTGATCACGCAGCATCTCGAAGCTTGCCCTTCCGATTGGCCCTCTTGGAGGCCCTCTTGGAGGCCCGGAGCGCGTGACCCGAACGGGAAGCGGACTGGCTGGGGTGAAGAAGGGACTGGCACCATCCTTATTGGGCTTTTTGATTGGCCGCGGCACCAGGACACGTCACAGGGGCGGGGCCGATTTTAAAGAGCCGGGCGCGGAAAAAAAAAGGCCGCCTGTCGTCGTGGAGAGAATGAGTCACAGATTTACTGAGTTAACAAAATATCTTTAATAAAATCTTTTTGTTTGTTTGTTTTGTTTTGGAGACAGAGTCTGTCACCCAGGTTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCATGCCACCACTCTCGGCTAATTTTTGTATTTTTAATAGAGACGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTCAGGTGATCCGCCCGCCTCAGCCTCTCAAAGTGTTGGATTACAGGCGTGAGCCACGGCGCCTGGCCTAAAACCTTTTTTTACCACAAAATGGAGACCTGTAAGGCGAAGTGAGGTTGGATGGCTGGACGGTGGGGGTGGGGTGCAGTCCTGGATCAGGGCCGGAGCTGTCACTTCTTCCTCTTCTTGTTGTCCGGGGGCGCCTCGTTCTTCTTGCCCAGAATCTTTAGAAGGCTCTTGGACATGTAGTAGGGCCGGTCCAGGGAGCCGTTGTTCCGCTCCAGGTCTTCCACTGAGCCGCAACAGAGACCGGTTAGAGCGGACCCTGGGGCCAGGAAATCGGGGACTGGGAGGCAAGCTGCCTGCGGGATTTGGAATCCAAGCTGCACCACCACCCTTACCCCCGGGCAGGTTATGTAATCTCAGTTTCCTCCTGTGAAGTGGGGTCGGGAATATTATGTTGCATAGAGCGATGATAAGAATTAGCGGAAAAAATGCATGTCAGTCGCTTAGGAGGAGACTGGCAAACCCTGAATGGATGCATGCTGTAGAGTAAGAAAATCCCCTGCCGCTACAGCCACCTGCTGGGAAGTCTCTCTAATGGCTCTTTTTTTTTTTTAATCTTTTTTCTTTGTTTTGAGACGGAGTCTTGCTGTCGCCCAAGCTGAAGTGCAGTAGCGCAATCTCGGCTCGCTGCAACCTCCGCCTCCTGAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTGGCTGGGATTACAGGCGCCCGCCACCGCGCCCAGC
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ACATCACGGGGCCTTAGTGTATCACAGGCATCATAGCTGCGGAGGACAATTCGGCAGTGGCAGTGGTAGTTGTTCTGGTTTCGGGCATTGATGACGACTGAGCCATCTGGGAGCTCATAGGGCTGAGGGGAGAGGACAGGACCTCAGGGAGGGAACAGGGAAAATGCCCTGTCCCCGAGGGGAGCAAGGGTGTGTGGCACTGAGTGGAGCAGTCAGACCCTGGGTCTGTGCGTGAAATGATGTTCTGGAGGGCAGGGAGGGTCAAATGGGTAGGGAACATCTCATGGACTCCTGACCTGGCATTCATCAGGATTGAAATCATTTTCCTGCTTGGGCTGACCGTAGGGGATGCCGCTGACCCCACTTCCGTAGCGCCAGGAGGCACCATGATCATCGCTGAGGAGACAGAAGACTCCGTCCCGCTCCAGCGTCCCATGGCCACACACGATGAGGCGGCCCTTCCGTGGCTCCCGCTGTTTCTGTGGGAAAGGGAACTGGGTGTCACAGAAGGAGACTCTAGGGGCTCAGAGGCAGGGACAGAGAACCCACCACTTCCCAAATGCAATCACATGTATGGTCCCCTTGAGTTCAGCCCTTGCTCACTGAGGGTTCCAGTCAGATCCCATAAATACACACCCTGTTTGAATTAAGAAGCTCTCCCAGGGTGTACAGCTGGACATGTGCACCAGGGGCCCAGCCACAGGGTGCATGAGAGCTTAAACCCAACCTGTGCTCACTCGCCAAGCTGTGCACCCTGGCACAGGCTTGTGTCTGTCCAAAGAGGCAGTGCCTTTTTCTACTTTGCATGAGGGTATTGCATGGACTAACGCAGTCCTGTTGACAATGCCAAATGGGAAGCCAATGGCAGAGTTCCCTCTTCTCCTGATAATGTGTTCCTACCAGGATGCCCTGTCTTTCAAGGAATCCCACCCAAGCCAGAAAATCTGACTTCAGAGAATCTTCCCCTTGGAAAGGAGTCCATTTGGGGGTATCCCTCAGACTCTCCACAAGGCAGCCCCCTCCACCTATCTCCTAGGACAGAGACCTGAATACCAGAGCCCGGTCCAGGGGCAAACACTTCAGTGCCAATATCCAGGGAGAGATTCCGGGGTGTGCTCCAGGAAACACCATCATCCTTGCTCCATACCAACATGGTAGAGGCCACCTGGCAGCCGGCCTTGTGAGCACAAAGGGAGTAGAAAAGAAATACTACTCCTGTCTCAACATCGCTCACTACTGCCCCAAGGTTCAGCCCATCGGGGACATCCCCATCATTGACAATGAACGCTGTAGGAGACCATGTGCTGCCTGAAAAAAATTGGAGGAAGAAACCCAGAGTGAGCACTCTGCAGGTACCCTTTCTACCACTTCCCGTTAATTTCCCACCTTCTGCTAGGGACCTCAGGCCTTCCGATGGTCCCAGGGTGCAATCCAACACTTGCACTATCTATACCTCTTGTCCTGTTTTATTTTTCTCCATTGCATTTATCACCTTGCAACAGACAAAAAAGTTTACTTGTTTATTATGCTTGTCTGTCTCCTTCCAGTACAATTTAAATCCTGAGGGCAGAGATTTTTGATCTGTTTTGTTCGTGGCTATATTCATGAAACCTAAAATAGTGCCTGGTATAGGTATATAGTACCCAATAAATGTTTGCTAAGTGAATGTCCAACTCCTTGGTGATCCCAATTTCCAGATCACTGTCCTAGACACTTGCCCTTCTCGGGTTCCCTCTACCCCTCAGGGACTCAGGCAACCAACCCTCTAAGTTCCCCTATCCTCAGGGCCCTTGGGCTCATTGGGCTGCCCACCCATCCAACCTAGCACCGGCTCTTTCACCCAGACATCTTTATACCCTGGTCCATGGACCTCCGCAGGGCGATGAACTTGGCCCCCTCATCGGATGAGGACATTTTCCTCGCCTCAGCAAAGGCGAGAAGAGTGCCCCGCGGAGTGGCTGTGATGAGCGGGATGCGGAAGGTGTCCACTGAGCCGATCTGTCTCCCGCTCACCCACAGCAGTTGCTCCATGGTCACCAGCGGCTGCATCTGTCATGGGAGGAGGAAGGGTCAACAAAGACAAACTTGTCTTGGGGGTTTTAGGAACCCACGTTCCGATGGGAGAGGGAGGATCTAATGGGGATCCCGAGTAGGGGATGGGGTCCCAGAACAAGAAAGAGGAACACGAAGGGGAGTTTGGAGCGAAGCTGGAGGCTCGGAGCAGGGGAGGGTCTACGAAAGGAGAAGGCGCCTTCAGGGAGGGAAGGGGACCCCAAAAGAGGAAGGGGCTCGAATGAGGAGAAGGACGGGGACCCGGAGAGGGAGAGGGGCTGGGAGCGGTAGGAGGAAACGGGGTCTGGGAGAAAGAAAAGGGTCCTGTCGCGGAAAGTCGGCTCAGCCGCCCGCGTTCCGGGGGACACTAGGTGTCGATCACCTGCGCGGGTCGGGGATGGGGCTATGCAAAGGGTGACTCACCAGACCGAAGTCGTTCTCAGCCTTGGACCAGGAGGCTGCCAGAGACAGCAGCAGGAAGATCGCGGCAAACACCCAAACCCTACAGCCTCCCCAGAAGCCCAGAATCCGCGGCCCCCAGCGTCTGTCCGGGAGCGCCGTGCTGGGTCGCTCCCCAGTCATCTCTCCCCGCAGCTGCCGCGACCCTGGCAGCTAGACTCCACAGAGTCGGGAGTCAGCTGACCCGGACCCTTTAAAGCGCAGATGTCACCCTTAAGCCCGCCCCGGTCTGGAGGCCCCGCCGCGCTTCCCGGACTCTAATTGGTCTTCAAGTAGCTCATCTCCTCCCACGTGATCACGCAGCATCTCGAAGCTTGCCCTTCCGATTGGCCCTCTTGGAGGCCCTCTTGGAGGCCCGGAGCGCGTGACCCGAACGGGAAGCGGACTGGCTGGGGTGAAGAAGGGACTGGCACCATCCTTATTGGGCTTTTTGATTGGCCGCGGCACCAGGACACGTCACAGGGGCGGGGCCGATTTTAAAGAGCCGGGCGCGGAAAAAAAAAGGCCGCCTGTCGTCGTGGAGAGAATGAGTCACAGATTTACTGAGTTAACAAAATATCTTTAATAAAATCTTTTTGTTTGTTTGTTTTGTTTTGGAGACAGAGTCTGTCACCCAGGTTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCATGCCACCACTCTCGGCTAATTTTTGTATTTTTAATAGAGACGGAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTCAGGTGATCCGCCCGCCTCAGCCTCTCAAAGTGTTGGATTACAGGCGTGAGCCACGGCGCCTGGCCTAAAACCTTTTTTTACCACAAAATGGAGACCTGTAAGGCGAAGTGAGGTTGGATGGCTGGACGGTGGGGGTGGGGTGCAGTCCTGGATCAGGGCCGGAGCTGTCACTTCTTCCTCTTCTTGTTGTCCGGGGGCGCCTCGTTCTTCTTGCCCAGAATCTTTAGAAGGCTCTTGGACATGTAGTAGGGCCGGTCCAGGGAGCCGTTGTTCCGCTCCAGGTCTTCCACTGAGCCGCAACAGAGACCGGTTAGAGCGGACCCTGGGGCCAGGAAATCGGGGACTGGGAGGCAAGCTGCCTGCGGGATTTGGAATCCAAGCTGCACCACCACCCTTACCCCCGGGCAGGTTATGTAATCTCAGTTTCCTCCTGTGAAGTGGGGTCGGGAATATTATGTTGCATAGAGCGATGATAAGAATTAGCGGAAAAAATGCATGTCAGTCGCTTAGGAGGAGACTGGCAAACCCTGAATGGATGCATGCTGTAGAGTAAGAAAATCCCCTGCCGCTACAGCCACCTGCTGGGAAGTCTCTCTAATGGCTCTTTTTTTTTTTTAATCTTTTTTCTTTGTTTTGAGACGGAGTCTTGCTGTCGCCCAAGCTGAAGTGCAGTAGCGCAATCTCGGCTCGCTGCAACCTCCGCCTCCTGAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTGGCTGGGATTACAGGCGCCCGCCACCGCGCCCAGC
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Task1_train_10138
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A variant found in Chromosome 6 affects SLC44A4 (solute carrier family 44 member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Hearing loss, autosomal dominant 72
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GGCATGAGCCACTGCACCTCACTGTCATTTACATTCTAAAGATGAGGAAACAAGGTTCAGAGAGGTTGCATAGTTGGGTCAAGACCATAGGGCTGGAAAGTGCTAGAATTTATATTCAGATCTACTTGACTTTGAAGTATTCACTTGAGATACTCCTTACTGTACTTAAATTGATAACTGGATATCTCATCTTATGCTATAAATTGTCTAATTTTTTTTTTTTGAGATGGAGTCTCACTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACCGTAAACTCCGCCTCTGGGCTCAAGCAATTCTCCTACTTCAGCCTCCCGAGTAGCTGGGATTTCAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTAGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCTCCCGGCCTAAAATTTTTGTTTGAGACGGAGTCTCGCTCTGTCAGCAAGGCTAGAGTACAGTGGCACGATCTTGGCTCACTGCAAAGCTCACTGCAACCTCTGCCACCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATAAGAGGTGCATGCCACCACGCCCAGCTAAGTTTTGTATTTTTAGTAGAGATAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAGCATGAGCCACCATGCCTGGCCTAAAAATTGTTTTATATTAAAAATGACATTTGCAACTGGGTGTCGGGGCTCATGTCTGTAATCCCAGCACTTTGAGAGGCTGAGGTGGGAAGATTGCTTGAATCGAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACTTCATCTCTTAAAAAAAAAAAAAGACATTTGCTACTGGAAGGAAGAGCACACTGTAAAAGAAAAAAAGTTCAACTGTGATCCTACCACCCAGCCACGTTCACTTATAACATTTGAACAAATATCCTTCTAGCCTTTTCCCTGTGCATATATAAAAATGATATGTGTGCAGGCTGGGCGTGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACGAAGTTAGGAGTTCAAGACCAGCTTGGCCAAGATAGTGAAACCCCGTCTCTACTAAAAATACAAATTTAATAAATAAATTTAATAAATAAAATAAAAATAAAAATTAGCCGGGCGTGGTGGCGGGCACCATGTGCTGTAATTCCAGCTACTCGGGAGGCTGAAGCAGAGAAGCGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGACTCCGTCAAAAAAAAAAAAATGTGTGTGTAGATTCACCCATGTATGTTTTCATGAGATTTTCATACAGTCTCTTTGTGAACAACTCTAATCTCTTCACCTAGAATGTAGCTGAAGCAGGGAGCAGTTGTTATCCCTGCCTCTGTCCCCAGCACCTGGCACATAGTAGGTCCCCAAAACACTGATGGTCTGACTGCAAGGCCACATAACAAAGAGCAAAATGAAGACCTGATGCTAATTCCAATTTTGCCACCAACAAGCTATGTGACTTCACTCTCTCTGGGCCTGATTTCTTCATTCAAGCAATGAAAACACTGGACTAGATGACGTCTGAGGAAGGAATCTGTGCTTCTCACCTGGAGCAGAGGGGAGGAGGAAACTGGGGCAGAGTTCCTGTTGCAGGCTTGTGATCACCGTCTGTGGCAGGAGTGAAAGGACAGACACACAGACACAGAGCAGGATGAAGAAGCAGGTCCCCTCACCACCACCATGGGGCTCAGCCTGTCCCACACTCCCCAGGAGAGCCAACCTGGTGATGATCTACCCAACTCCCCCTCCCTCTCGTGCCCACCCTGGCCCTTCTGGGCGACAGTGATGAGGTTAGGGGCAATATTCACCATATTCCAGGGTACCCCTGGCAGACAAAAGTTCCTGTTTTTTGTATAGAAGACTTCCCCAACAGTCTGTGAGAACTCGTTTTTTCCCACAGTCCATGGGTCCTCCGGGCAGGAGGACACACACACCTGGGTGCAGAGAGAACACTAAGGGGCTGGAACCTGAGACCCTGGGTGAGATCTGGGGTAGAGGCAGGTCCCAGGCTCTGACCTGGGGTGTGGGGCACTGTAGGCCGTTCTCAGCAACTGAGATGATGTTGCTGGACAGGATGCAGCTGAAGATGTTGAAGTACAGGAGATACGGCTTATCTCTGTGGGAGGGGAGGGACCATGTGCATCAGGGCCTGGTCAGGTGTTGGGGGAGGGGAGGGACCACTAGGGTGGCTTCTCAAGAATACAGTGGGCCCAGCCCAGCGTGGCCCATACCAGTCACCTCCCAGCTCCTGGCCCTAGCTCAGCTGGGGAGGTAGGGAGATGCCTAGAAGATCTCTCAGAGTAAGTCACCATTGCAGCAGCTGACAAATAGCTCAGAGCATGAACTTGGAGCTCCACAACTTCATATCATCTTTATGATCTTGAGCAAGTCACCTGTTCTCGGTCTTAGTTCTACTCCATATAAAACAGTAGTGCCTACCTCATGAGATTTCAATGCGCTTGTGTGTGTAAAGTTTACTGCCTGCCTGGAACATAGTAAATGCTATATAAATATTTGAGGTTTTATTATTTATTGGACATCTGTATGTGAGGACTGTTGGCATTGCTTCTGGAATTCCCCTTGAATTTCAAATAAGGAAATCAAAGCTCAGAGAGCTTGAGTAACTTGTCCAAGGCCACACAACCAAAACTTGGTCCAGTTGGGGATCCAAACACCAATCTCTGAACTGTAAAACTCATACACTTAACACGACTCTCCACTGCCTCCCATTTCTGGGGGGACTCAAGAAGCTAACTGTCCAGCAATGGTTCTTAACGTGGCCTGGAGTTGTCAGATTCAGGGAGGCTGAGGTGGGGTGGGGACAGCAGGGAAAGGCTGTGGAAGAGCACGGACAGGTCTGGAGCCTGAGTTGGGGGGGTGTCTCCTGCCCACCCTACCTCGCCTCGCTCCTGCACTCCTCTTCTCGCCTTTGTACTCACTTGTTCTCCCCCATGCCACAGTAGGCCCCAGTAGAGTTCCTGGGGTAGAGGACTTGCCGGGGGTCTCCATACAACCAGGCTGCAGACAGAGGCACAGATGAGTCATTGGAGGGCAGGGACTTAGTGGGGCAGTTATGGGAATGGTCCCTCCCTGGGTTCCTGTCCCTCACCCACTGCCCTGGCTCTGAGCAGCTGGAAACTCACCCACAATCCCCACCACGATGTAACCTAGAATGAAGAGCAGGAAGAGGACGCAGCAGATGACATCTGTGCAGCTTCTGAGAGAGAAACGAAACGGGAGGCTGAGCTAAGGAGACTTGGGGAGGTAGGGCTTATGGTCTGGAGGGGTTAAGGGTTAGAGAGTTGGGTGATGCTGCAGCATGGGCATCAGTAGGCTTTATTTTTATTTTTTTATTGCTTTTACTTTTTTATTTTGAGACAGGGTCTCACTCTGTCACACAGACTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGCCACTACTGCCCGGCTAATTTTTTTTAAATATTTTATTTAGAAAACCTAGCCAGGCACAGTGGCTCACGACTGTAATACTAGCTACTTGGGAGGCTGAGGCAGGGCAATCCCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGATCCCATCTCAAAGAAATTAGCCTGGTGTGATGGTGCATGCCTGTAGTCCCAGCTACTCGGAAGGCTAGGGCAGGAGGATCACTTGAGCACAGGAGTTCGAGCCTGCAGTGAACCCCCATCTCCAAAACACAAAAAGAAAGAAAACCTTTTTCTGGGTGGGTAAACTTTCTTCTGAAGTAAAAGACAGAAAAGCACAC
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GGCATGAGCCACTGCACCTCACTGTCATTTACATTCTAAAGATGAGGAAACAAGGTTCAGAGAGGTTGCATAGTTGGGTCAAGACCATAGGGCTGGAAAGTGCTAGAATTTATATTCAGATCTACTTGACTTTGAAGTATTCACTTGAGATACTCCTTACTGTACTTAAATTGATAACTGGATATCTCATCTTATGCTATAAATTGTCTAATTTTTTTTTTTTGAGATGGAGTCTCACTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACCGTAAACTCCGCCTCTGGGCTCAAGCAATTCTCCTACTTCAGCCTCCCGAGTAGCTGGGATTTCAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTAGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCTCCCGGCCTAAAATTTTTGTTTGAGACGGAGTCTCGCTCTGTCAGCAAGGCTAGAGTACAGTGGCACGATCTTGGCTCACTGCAAAGCTCACTGCAACCTCTGCCACCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATAAGAGGTGCATGCCACCACGCCCAGCTAAGTTTTGTATTTTTAGTAGAGATAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAGCATGAGCCACCATGCCTGGCCTAAAAATTGTTTTATATTAAAAATGACATTTGCAACTGGGTGTCGGGGCTCATGTCTGTAATCCCAGCACTTTGAGAGGCTGAGGTGGGAAGATTGCTTGAATCGAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACTTCATCTCTTAAAAAAAAAAAAAGACATTTGCTACTGGAAGGAAGAGCACACTGTAAAAGAAAAAAAGTTCAACTGTGATCCTACCACCCAGCCACGTTCACTTATAACATTTGAACAAATATCCTTCTAGCCTTTTCCCTGTGCATATATAAAAATGATATGTGTGCAGGCTGGGCGTGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACGAAGTTAGGAGTTCAAGACCAGCTTGGCCAAGATAGTGAAACCCCGTCTCTACTAAAAATACAAATTTAATAAATAAATTTAATAAATAAAATAAAAATAAAAATTAGCCGGGCGTGGTGGCGGGCACCATGTGCTGTAATTCCAGCTACTCGGGAGGCTGAAGCAGAGAAGCGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGGAAGACTCCGTCAAAAAAAAAAAAATGTGTGTGTAGATTCACCCATGTATGTTTTCATGAGATTTTCATACAGTCTCTTTGTGAACAACTCTAATCTCTTCACCTAGAATGTAGCTGAAGCAGGGAGCAGTTGTTATCCCTGCCTCTGTCCCCAGCACCTGGCACATAGTAGGTCCCCAAAACACTGATGGTCTGACTGCAAGGCCACATAACAAAGAGCAAAATGAAGACCTGATGCTAATTCCAATTTTGCCACCAACAAGCTATGTGACTTCACTCTCTCTGGGCCTGATTTCTTCATTCAAGCAATGAAAACACTGGACTAGATGACGTCTGAGGAAGGAATCTGTGCTTCTCACCTGGAGCAGAGGGGAGGAGGAAACTGGGGCAGAGTTCCTGTTGCAGGCTTGTGATCACCGTCTGTGGCAGGAGTGAAAGGACAGACACACAGACACAGAGCAGGATGAAGAAGCAGGTCCCCTCACCACCACCATGGGGCTCAGCCTGTCCCACACTCCCCAGGAGAGCCAACCTGGTGATGATCTACCCAACTCCCCCTCCCTCTCGTGCCCACCCTGGCCCTTCTGGGCGACAGTGATGAGGTTAGGGGCAATATTCACCACATTCCAGGGTACCCCTGGCAGACAAAAGTTCCTGTTTTTTGTATAGAAGACTTCCCCAACAGTCTGTGAGAACTCGTTTTTTCCCACAGTCCATGGGTCCTCCGGGCAGGAGGACACACACACCTGGGTGCAGAGAGAACACTAAGGGGCTGGAACCTGAGACCCTGGGTGAGATCTGGGGTAGAGGCAGGTCCCAGGCTCTGACCTGGGGTGTGGGGCACTGTAGGCCGTTCTCAGCAACTGAGATGATGTTGCTGGACAGGATGCAGCTGAAGATGTTGAAGTACAGGAGATACGGCTTATCTCTGTGGGAGGGGAGGGACCATGTGCATCAGGGCCTGGTCAGGTGTTGGGGGAGGGGAGGGACCACTAGGGTGGCTTCTCAAGAATACAGTGGGCCCAGCCCAGCGTGGCCCATACCAGTCACCTCCCAGCTCCTGGCCCTAGCTCAGCTGGGGAGGTAGGGAGATGCCTAGAAGATCTCTCAGAGTAAGTCACCATTGCAGCAGCTGACAAATAGCTCAGAGCATGAACTTGGAGCTCCACAACTTCATATCATCTTTATGATCTTGAGCAAGTCACCTGTTCTCGGTCTTAGTTCTACTCCATATAAAACAGTAGTGCCTACCTCATGAGATTTCAATGCGCTTGTGTGTGTAAAGTTTACTGCCTGCCTGGAACATAGTAAATGCTATATAAATATTTGAGGTTTTATTATTTATTGGACATCTGTATGTGAGGACTGTTGGCATTGCTTCTGGAATTCCCCTTGAATTTCAAATAAGGAAATCAAAGCTCAGAGAGCTTGAGTAACTTGTCCAAGGCCACACAACCAAAACTTGGTCCAGTTGGGGATCCAAACACCAATCTCTGAACTGTAAAACTCATACACTTAACACGACTCTCCACTGCCTCCCATTTCTGGGGGGACTCAAGAAGCTAACTGTCCAGCAATGGTTCTTAACGTGGCCTGGAGTTGTCAGATTCAGGGAGGCTGAGGTGGGGTGGGGACAGCAGGGAAAGGCTGTGGAAGAGCACGGACAGGTCTGGAGCCTGAGTTGGGGGGGTGTCTCCTGCCCACCCTACCTCGCCTCGCTCCTGCACTCCTCTTCTCGCCTTTGTACTCACTTGTTCTCCCCCATGCCACAGTAGGCCCCAGTAGAGTTCCTGGGGTAGAGGACTTGCCGGGGGTCTCCATACAACCAGGCTGCAGACAGAGGCACAGATGAGTCATTGGAGGGCAGGGACTTAGTGGGGCAGTTATGGGAATGGTCCCTCCCTGGGTTCCTGTCCCTCACCCACTGCCCTGGCTCTGAGCAGCTGGAAACTCACCCACAATCCCCACCACGATGTAACCTAGAATGAAGAGCAGGAAGAGGACGCAGCAGATGACATCTGTGCAGCTTCTGAGAGAGAAACGAAACGGGAGGCTGAGCTAAGGAGACTTGGGGAGGTAGGGCTTATGGTCTGGAGGGGTTAAGGGTTAGAGAGTTGGGTGATGCTGCAGCATGGGCATCAGTAGGCTTTATTTTTATTTTTTTATTGCTTTTACTTTTTTATTTTGAGACAGGGTCTCACTCTGTCACACAGACTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTTAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGCCACTACTGCCCGGCTAATTTTTTTTAAATATTTTATTTAGAAAACCTAGCCAGGCACAGTGGCTCACGACTGTAATACTAGCTACTTGGGAGGCTGAGGCAGGGCAATCCCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGATCCCATCTCAAAGAAATTAGCCTGGTGTGATGGTGCATGCCTGTAGTCCCAGCTACTCGGAAGGCTAGGGCAGGAGGATCACTTGAGCACAGGAGTTCGAGCCTGCAGTGAACCCCCATCTCCAAAACACAAAAAGAAAGAAAACCTTTTTCTGGGTGGGTAAACTTTCTTCTGAAGTAAAAGACAGAAAAGCACAC
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Task1_train_10139
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This mutation is located in gene C2 (complement C2) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; C2 deficiency, type II
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CAGTAGGCGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGAGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCACTTCCCGGATGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGTGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACTTCCCGGACGGGGCGGCTGGCCGGGCTGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACCAGGTGGCTGCTGGGCGGAGGGGCTCCTCACTTCTCAGACAGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGATGGAGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACATCCCGGATGGGGCGGCCGGGCAGAGGTGCTCCCCACATCTCAGACGATGGGCGGCAGGGCAGAGACGCTCCTCACTTCCCAGATGTGATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGTGGCCAGGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCTGCTGGGAGGTGGAGGTTGTAGCGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCATCATTGAGCACTGAGTGAACGAGACTCCGTCTGCAATCCCAGCACCTCGGGAGGCCGAGGCTGGTGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACTAACAAAATACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAATCGCAGGCACTCGGCAAGCTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACCGTCCAGCTTCGGCTCGGCATCAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCATGGGGAGAGGGTGAGGGAGAGGGAGCTCTAGGAACATTCTTGCATGTGATTTTGGTACATGTATGCACTTGCTTCTCTTGAGTAAATGATCTAAATGTGGAATTGTCACATCACAGGCTGGCATATGTTTAGTTGTAGTAGAGGCTGAGAAAGTTTCACCCACGTACATGCCAGCAAGGTAACAGAGTGCCAGTCGCTCTGCATCCTCTCCAACACTTGGAATTACCTGTTGTTTCAGTGTTAGCCGTTTTGATGGGTGTGTAGGGATGCCTCACTGTGGTTTATGAAATATAAATGTTCTCTGAAGGAGTGGAGGGACCATCAGCTGACTTCTTCCCTGGGTCTCTGGGGGCTCTGGGACAGACATGGGTGCATCCCTGGGTTGGAACTGGGAAGCTTCTGCTGGCAACTGAGGCCGCTGAGGAGGCAGAGCCTGATGGGAGGGGGCTACTCACCTCTGCCTTCCTTTGTTCACTCGCAGCTGGCCACTGCCCCAACCCAGGCATTTCACTGGGCGCAGTGCGGACAGGCTTCCGCTTTGGTCATGGGGACAAGGTCCGCTATCGCTGCTCCTCGAATCTTGTGCTCACGGGGTCTTCGGAGCGGGAGTGCCAGGGCAACGGGGTCTGGAGTGGAACGGAGCCCATCTGCCGCCGTGAGTAGCTGCCCTGCCCTCCTGAGATTCCTCGGCACACCCGGCCACTGCCCCGGCTGACTCCTGTGTGGCTCTCCCCACAGAACCCTACTCTTATGACTTCCCTGAGGACGTGGCCCCTGCCCTGGGCACTTCCTTCTCCCACATGCTTGGGGCCACCAATCCCACCCAGAAGACAAAGGGTGAGTGTTTGAGGTGGGGTTTCTGGTTGAGCAGGGTGCTGGATCTGGGCCGGAGCAAGGGAGGATGCAACCTTCCTGGAGGCCAGGAGCCTTGGTGGGCTCAGCCACTGAAAGGGAGGGAGGCAGAGAAGCTGGACCTGCTTGGCGAGAGCGCAGGAAGGAGGTGGGGATCTGAATCCTCCCCTTCCACATTTCTCCAGAAAGCCTGGGCCGTAAAATCCAAATCCAGCGCTCTGGTCATCTGAACCTCTACCTGCTCCTGGACTGTTCGCAGAGTGTGTCGGAAAATGACTTTCTCATCTTCAAGGAGAGCGCCTCCCTCATGGTGGACAGGGTCAGGAATCAGGAGTCTGCCTGCAGCAGAGGCCTTCCTGTGCTCACTATCTCTCTCTGTCTCCTTCCCCTCCTCAGAACCCCACTCACAGCCCACCTCCTCCAAGAAGTCTTCTCAGATTATACTCATGCCATGTAGGAATCATGAATTCAATTTATACAATCATAATTTTTATTCCACAAGCACTGTTGGGACACTGTGCTGGGGCTGGGCGACAGCAAAGATGGAAAGGCTGAGGTCTTACTTTCCAGGAATTCATCATCTAGAACAGTGGTCTCCACAGAAAGGTAGTGAGATAACCCACAGGAGTGAAGCAGAAAAATACTGGTGCCCCTGTGGAATAATTTAAATCAGATTAATAATTTAATATTTAATAATTTCCTTTTAAAACTTCAACATTTTGTGCAGGCTTTAAAATGTGTGTGATAGACTGGGCATGGTGGCTAGTGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGATGAAACCCTGTCTATACTAAAAATACAAAATTAGCCACATGTGATGGCGCACGCCTGTAACCCAGCTACTTGGGAGGATGAGGCAGGAGAATCGCTTGGATCCGGGAGGTGGAGGTTGCAGTGGGCTGAGATCACGCCATTGCACTCCAGCCTGGGCAACTAGAGCAAAACTCTGTCTCAAAAAAATAAATAAAATAAAATAAAATAAAATAAAATATGTGTGATAGAAGTTTGGAAGCCACTGGTTTAAGTTCCTCGCCAGAACTTTGTTTTGTAATTGTGCTTTTCACAATACTTCATGTAACATTATAGATGGTTTTCCCTCCCAGCTACATTTTAAAGAGGGCAGTTTCTGTGCTCTCTTGGGACTCAAAATTAAGTAACTCATTGCACTGCGAGGCGGCAACACACACCAGTTGGAGCAGTGATTGAGAATCATGTGACACATTCAGATCCCACTTCCACCTCCTCCTCATGGTGTGATGGGGGAAGGGGGACAAGGCAACATACCTCAGTTTCCTTATCCATAAAATAGGGGTCATCATGCCCCTCACAGGGTGGAGTGAAGAGAGTCTGTCAAAGAGAAAGATGTTCAACAAAGGTTTCTTCCTTAGCTGCTGCTGTTCCTTATTTTTATTATTATTATTATTATTATTATTTTTGAGATAGAGTCTCTGTCACCCAGGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAACTTTGCCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCTTGCCACCATACCAGGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTAAAGTGTTGGGATTCAGGCATGAGCCACCGCGCCCAGCCCCTAGCTTCTTCCTAACAGCCATTTCCTAGTGTCTCCCCTGGTCCTTGCCTCTGTCGGTCTCACTCCAGTTTCTCTGCCTCCTCCAGGGCCCTTTGTTTGCTCTCTTACCATCTCCCCTTTGGCTTCAGGGCCCTTTACGCTGCCTCTCACTTGCCCCGCACAGA
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CAGTAGGCGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGAGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCACTTCCCGGATGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGTGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACTTCCCGGACGGGGCGGCTGGCCGGGCTGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACCAGGTGGCTGCTGGGCGGAGGGGCTCCTCACTTCTCAGACAGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGATGGAGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACATCCCGGATGGGGCGGCCGGGCAGAGGTGCTCCCCACATCTCAGACGATGGGCGGCAGGGCAGAGACGCTCCTCACTTCCCAGATGTGATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGTGGCCAGGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCTGCTGGGAGGTGGAGGTTGTAGCGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCATCATTGAGCACTGAGTGAACGAGACTCCGTCTGCAATCCCAGCACCTCGGGAGGCCGAGGCTGGTGGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACTAACAAAATACGAAAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAATCGCAGGCACTCGGCAAGCTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACCGTCCAGCTTCGGCTCGGCATCAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCATGGGGAGAGGGTGAGGGAGAGGGAGCTCTAGGAACATTCTTGCATGTGATTTTGGTACATGTATGCACTTGCTTCTCTTGAGTAAATGATCTAAATGTGGAATTGTCACATCACAGGCTGGCATATGTTTAGTTGTAGTAGAGGCTGAGAAAGTTTCACCCACGTACATGCCAGCAAGGTAACAGAGTGCCAGTCGCTCTGCATCCTCTCCAACACTTGGAATTACCTGTTGTTTCAGTGTTAGCCGTTTTGATGGGTGTGTAGGGATGCCTCACTGTGGTTTATGAAATATAAATGTTCTCTGAAGGAGTGGAGGGACCATCAGCTGACTTCTTCCCTGGGTCTCTGGGGGCTCTGGGACAGACATGGGTGCATCCCTGGGTTGGAACTGGGAAGCTTCTGCTGGCAACTGAGGCCGCTGAGGAGGCAGAGCCTGATGGGAGGGGGCTACTCACCTCTGCCTTCCTTTGTTCACTCGCAGCTGGCCACTGCCCCAACCCAGGCATTTCACTGGGCGCAGTGCGGACAGGCTTCCGCTTTGGTCATGGGGACAAGGTCCGCTATCGCTGCTCCTCGAATCTTGTGCTCACGGGGTCTTCGGAGCGGGAGTGCCAGGGCAACGGGGTCTGGAGTGGAACGGAGCCCATCTGCCGCCGTGAGTAGCTGCCCTGCCCTCCTGAGATTCCTCGGCACACCCGGCCACTGCCCCGGCTGACTCCTGTGTGGCTCTCCCCACAGAACCCTACTTTTATGACTTCCCTGAGGACGTGGCCCCTGCCCTGGGCACTTCCTTCTCCCACATGCTTGGGGCCACCAATCCCACCCAGAAGACAAAGGGTGAGTGTTTGAGGTGGGGTTTCTGGTTGAGCAGGGTGCTGGATCTGGGCCGGAGCAAGGGAGGATGCAACCTTCCTGGAGGCCAGGAGCCTTGGTGGGCTCAGCCACTGAAAGGGAGGGAGGCAGAGAAGCTGGACCTGCTTGGCGAGAGCGCAGGAAGGAGGTGGGGATCTGAATCCTCCCCTTCCACATTTCTCCAGAAAGCCTGGGCCGTAAAATCCAAATCCAGCGCTCTGGTCATCTGAACCTCTACCTGCTCCTGGACTGTTCGCAGAGTGTGTCGGAAAATGACTTTCTCATCTTCAAGGAGAGCGCCTCCCTCATGGTGGACAGGGTCAGGAATCAGGAGTCTGCCTGCAGCAGAGGCCTTCCTGTGCTCACTATCTCTCTCTGTCTCCTTCCCCTCCTCAGAACCCCACTCACAGCCCACCTCCTCCAAGAAGTCTTCTCAGATTATACTCATGCCATGTAGGAATCATGAATTCAATTTATACAATCATAATTTTTATTCCACAAGCACTGTTGGGACACTGTGCTGGGGCTGGGCGACAGCAAAGATGGAAAGGCTGAGGTCTTACTTTCCAGGAATTCATCATCTAGAACAGTGGTCTCCACAGAAAGGTAGTGAGATAACCCACAGGAGTGAAGCAGAAAAATACTGGTGCCCCTGTGGAATAATTTAAATCAGATTAATAATTTAATATTTAATAATTTCCTTTTAAAACTTCAACATTTTGTGCAGGCTTTAAAATGTGTGTGATAGACTGGGCATGGTGGCTAGTGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGATGAAACCCTGTCTATACTAAAAATACAAAATTAGCCACATGTGATGGCGCACGCCTGTAACCCAGCTACTTGGGAGGATGAGGCAGGAGAATCGCTTGGATCCGGGAGGTGGAGGTTGCAGTGGGCTGAGATCACGCCATTGCACTCCAGCCTGGGCAACTAGAGCAAAACTCTGTCTCAAAAAAATAAATAAAATAAAATAAAATAAAATAAAATATGTGTGATAGAAGTTTGGAAGCCACTGGTTTAAGTTCCTCGCCAGAACTTTGTTTTGTAATTGTGCTTTTCACAATACTTCATGTAACATTATAGATGGTTTTCCCTCCCAGCTACATTTTAAAGAGGGCAGTTTCTGTGCTCTCTTGGGACTCAAAATTAAGTAACTCATTGCACTGCGAGGCGGCAACACACACCAGTTGGAGCAGTGATTGAGAATCATGTGACACATTCAGATCCCACTTCCACCTCCTCCTCATGGTGTGATGGGGGAAGGGGGACAAGGCAACATACCTCAGTTTCCTTATCCATAAAATAGGGGTCATCATGCCCCTCACAGGGTGGAGTGAAGAGAGTCTGTCAAAGAGAAAGATGTTCAACAAAGGTTTCTTCCTTAGCTGCTGCTGTTCCTTATTTTTATTATTATTATTATTATTATTATTTTTGAGATAGAGTCTCTGTCACCCAGGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAAACTTTGCCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGTGCTTGCCACCATACCAGGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTGCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTAAAGTGTTGGGATTCAGGCATGAGCCACCGCGCCCAGCCCCTAGCTTCTTCCTAACAGCCATTTCCTAGTGTCTCCCCTGGTCCTTGCCTCTGTCGGTCTCACTCCAGTTTCTCTGCCTCCTCCAGGGCCCTTTGTTTGCTCTCTTACCATCTCCCCTTTGGCTTCAGGGCCCTTTACGCTGCCTCTCACTTGCCCCGCACAGA
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Task1_train_10140
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Assess the clinical impact of this variant on gene LOC126859653, SKIC2 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:31929542-31930741| SKI2 subunit of superkiller complex), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Trichohepatoenteric syndrome 2
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TATCCTCTTTCCTTACCTAATGCCTCTCATCTTGCCCTTGTTTCAGCTTCCCCATGGCCTCCCTCCTTGTGCCCCAGATCTGCAGCAAGAAGCAGAACAGTTGTTTCTGTCATCCCCAGCCTGGCTGCCTCTGCATGGTGTGGAGCACTCAGCCCGGTGAGGAGTCTGGAGGGGCTTAGACTAGGGTGATGGGTTCCTGAAGGAAGCTGGGACAGAGGAAGAAAGAAGACCCAAAAGTTACTATTTTTCTCTCCAGAAAATGGCAGAGGAAGACGGATCCCTGGTCTCTTTTGGCTGTCCTGGGAGCCCCAGTCCCATCCGACCTACAGGCCCAAAGACACCCAACCACAGGCCAGATACTGGGTTACAAAGAGGTAGGAGGTCAGGGGTCATGAGAAACAGTTGGGGAGAAGGGGAGGTGGTCAGAGACAAGCTCAGCCTCATTGGGGCTCTGATCTCTTGCCTTAGGTCTTGCTGGAGAACACAAATCTCTCGGCTACAACCTCCTTGTCTCTTCGCCGGCCTCCAGGGCCAGCCTCCCAGTCCTTATGGGGAAATCCAACTCAGTATCCCTTCTGGCCAGGTGACTCTTGTGGAGATGGGATGGTAGAAGAGGGTGTCTTTAATCTCCAGGGAAGGGTTCCCCACCTATCTCGTATTACCCTCATCCCATGAATCCCTGTCTGTCCTGTCTCTTCCCAGGGGGGATGGATGAACCCACCATAACAGATCTGAACACACGGGAGGAGGCTGAGGAGGAGATAGACTTTGAGAAAGGTAAGGTGGGGCTCTGAGTCTGAGCCTTGAGGAGGAAGAGCCCAGGCTATCACTGGGCTACTGCTAGCCCTCCCATGTTTTTGAGAAAATTAGAAAAAGATATTCTGTCCATAACAACCTTTACTGTCATCTGCTGGGAAATTTCTACAACAACCTTTACTGTCATCTGTTGGGAAAGTGTCATAGCAAACATCCCTATCTACAGCATCTGTCCTGTAAATGGTATCTTTTAGGTTTATATAATGTACACAATTTGTTCACCAGTGTGCAGTGACCTGATTTCATGTCCCTATCCTACAGATCTTCTTACTATTCCACCTGGTTTCAAGAAAGGCATGGACTTTGCACCAAAAGGTTAGTTTTAGTTTTTGAGTGGGGTGTAGGAGAAGTCATGTCCTTCTCCTAAGGAACAGAGATGGACATGACAAGGTTGACCTTGTTGGCTTGCTCCTCAGATTGTCCAACTCCAGCTCCTGGACTACTAAGCCTTAGCTGTATGTTGGAGCCTCTGGATTTGGGTGGGGGTGACGAGGATGAGAATGAGGCAGTGGGACAGCCAGGAGGTCCCAGAGGGGACACTGTTTCAGCCTCTCCCTGCAGTGCTCCCCTGGCCCGAGCAAGCAGCTTGGAAGACCTAGTGTTGAAGGTTGGTGGTTCTGTGTAGTGGAGGCAAGAAAGAGCCTTGCCACCAGGATGTGGGCTGGCTAGGATGGGTCTGAGGGGAAGAAAGGGACATCTTTTGGGAGGAGTGCTAATTGAGAGCCCTCTGGTTGTATCTTTATCACTGCTACCCCTGACTCTTCCAGGAAGCGTCCACAGCTGTATCCACCCCAGAGGCCCCAGAGCCTCCATCTCAGGAGCAGTGGGCCATCCCTGTGGACGCCACCTCCCCTGTTGGTGATTTCTATCGCCTCATTCCCCAGCCAGCCTTCCAGGTACTTTGGCCCCATCTTCACACGCTCCTCTACCTCTTTCTGGGTCACACTCCCAGCCGACCCCTTGTCTCCTCTATTGGCCAGAGGTCAGATCCATCCCAGGCCAGTCTTGGTACTCAGTCCCAGCCTCGGCTGGCTCCGGCCTTCATCCGCCCGCCCTGCGTGCTCCATGAGCAGGAGGCAGCAAGGCCCCGCTCCTTTCTTCAGCTCCTGTCTATTTCTCTCTCCCATAGTGGGCATTTGAGCCAGATGTGTTTCAGAAACAGGCCATCCTGCACTTGGAACGGCATGACTCTGTCTTTGTCGCAGCTCACACATCTGCAGGAAAAACAGTTGTGGCTGAATATGCCATTGCCCTGGCCCAGAAACACATGACACGGTATGAGTTCCTTTGCCAACCTCCCCCTTCACCAGCCAGCCCCATTTTCTCCTGCATCCTTTGAAAATCTCATCTCTTCCCCCACCTCTCTAGCTCATCCTTTAAGTGAGAGGTTCAGGGCTAAGACTGAGACAAGAGCCCAGAGAGAAATGAAAAGACATGGTGGGGAGAAAGTTTAGAAGAATGACCTGGGTTAGTTTAGGAAGGGGTTGGGGACAGAATTTTTCTGGGGTTATATCATGCAGGAGAATGTAAGGGCAGTTTGGGTGAAGAAGAGGAGCACCTGAGCTTCTGGGGCATGCTTCCACGAGGGCTCCATGTGGGAGAGGAAGTGCGGGCCATGAGTCTGCGGAGGGACTGGCTAACTTCATGCTCTCTTCCCAGCACCATCTACACTTCGCCCATCAAGGCCCTGAGCAACCAGAAGTTCCGGGACTTCCGAAACACATTCGGGGATGTGGGGCTGCTCACCGGGGATGTACAGCTGCATCCGGAGGCCTCCTGCCTCATCATGACCACAGAGATCCTTCGGTGAGAGATGGACACTCAATACAGGGGAGTTTTGGCTGGGAAGATGTGGCCGTTGTGGAGAGTGTGCTGTCTGAGGAGGGGGTGGAGACGAGCCACTGGGGAGTCAATCCTTGGCCTCTTCTCCCCAGCTCCATGCTGTACAGTGGCTCAGATGTTATTCGGGACCTGGAGTGGGTCATCTTTGATGAGGTTCACTATATCAACGATGTCGAGGTAAGGGCCATGGGCTCCCCAGAACCCGGCAGTCCTCTCCTTTGGGACCAGTTGAGCGTCTCCCTTATTCCACACACTCAGGGCCCCTTACTGCTTTCTTTACCCCCATATGGAATCCTGTGCCTCTTTATGGGCAGAAGGGCGGCCCCTGCCCTCATGTGACCTCCCTTCCCTCTCTGTGCCCAGCGTGGGGTCGTGTGGGAGGAGGTGCTTATCATGCTACCTGACCACGTTTCTATCATCCTTCTGAGTGCCACCGTCCCCAACGCCCTTGAGTTTGCTGACTGGATTGGGTGAGACGTGTGTCCCGGGTTGCCTGGGTGAAGGGGGCTACAGTACTCCTTGATTCGGGTGGGGGACTAAGTCTACCACAGCAAGGAGAGCGGTCAGGCCTTAGGGGTGATGCTGGGGAACATGTCCCACCTGGTGGCTGTGGGATCCCCTTTGGGTCCAGATTACTTTGCATGTTGAAATGGGATGAGATGTTGGGGGATAGCCTTCCATTCTGGGTCTCAGAAAAGACTGGGTAAAGTTGGAGGGGTAGGGAAGGGGGTGGGGATGTGGGTTCCTTCCCACGTTCCCACCCCTGACCTGCTTCCCTCTCCTTTCTTCAGGCGGCTGAAGCGTCGTCAGATCTATGTGATTAGCACTGTAACCCGCCCCGTGCCCCTGGAGCACTATCTTTTCACAGGGAACAGCTCCAAGACCCAGGGGGAGCTCTTTTTGTTGCTGGACTCCCGAGGAGCCTTCCATACAAAAGGGTAAGCCTCGAGATGGGGGAAAGAGTTAGGGCTGGGCCCCCAGCTGGACATTGTGGCTACCCCTCCCTGTGCCCCAGGTACTATGCAGCTGTGGAGGCCAAGAAGGAGAGAATGAGCAAACACGCCCAGACCTTTGGGGCCAAGCAGCCCACACATCAGGGGGGCCCTGCACAGGTGAGAACTGGGAGGGTTTTGTACCTGCCAGCACCTGTTTTTCCTCCTATCTTTTTTTTCCCCTTGTCCCCCAGGGGTTTTGACTTGAGCTTTGAGCACTGCCCCAGTTAACACTAGCTCACCTCTCATTGGTTCAGGAACTCAACCTCTGCTCCTTCCCCTTCCCCTTCCTTCTCCAGGACCGCGGAGTGTACCTGTCCCTCCTGGCCTCCCTCCGCACACGTGCCCAGTTGCCCGTGGTGGTGTTCACCTTCTCCCGGGGCCGCTGTGATGAGCAGGCCTCAGGCCTCACCTCCCTTGACCTCACCACCAGTTCGGAGAAGAGC
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TATCCTCTTTCCTTACCTAATGCCTCTCATCTTGCCCTTGTTTCAGCTTCCCCATGGCCTCCCTCCTTGTGCCCCAGATCTGCAGCAAGAAGCAGAACAGTTGTTTCTGTCATCCCCAGCCTGGCTGCCTCTGCATGGTGTGGAGCACTCAGCCCGGTGAGGAGTCTGGAGGGGCTTAGACTAGGGTGATGGGTTCCTGAAGGAAGCTGGGACAGAGGAAGAAAGAAGACCCAAAAGTTACTATTTTTCTCTCCAGAAAATGGCAGAGGAAGACGGATCCCTGGTCTCTTTTGGCTGTCCTGGGAGCCCCAGTCCCATCCGACCTACAGGCCCAAAGACACCCAACCACAGGCCAGATACTGGGTTACAAAGAGGTAGGAGGTCAGGGGTCATGAGAAACAGTTGGGGAGAAGGGGAGGTGGTCAGAGACAAGCTCAGCCTCATTGGGGCTCTGATCTCTTGCCTTAGGTCTTGCTGGAGAACACAAATCTCTCGGCTACAACCTCCTTGTCTCTTCGCCGGCCTCCAGGGCCAGCCTCCCAGTCCTTATGGGGAAATCCAACTCAGTATCCCTTCTGGCCAGGTGACTCTTGTGGAGATGGGATGGTAGAAGAGGGTGTCTTTAATCTCCAGGGAAGGGTTCCCCACCTATCTCGTATTACCCTCATCCCATGAATCCCTGTCTGTCCTGTCTCTTCCCAGGGGGGATGGATGAACCCACCATAACAGATCTGAACACACGGGAGGAGGCTGAGGAGGAGATAGACTTTGAGAAAGGTAAGGTGGGGCTCTGAGTCTGAGCCTTGAGGAGGAAGAGCCCAGGCTATCACTGGGCTACTGCTAGCCCTCCCATGTTTTTGAGAAAATTAGAAAAAGATATTCTGTCCATAACAACCTTTACTGTCATCTGCTGGGAAATTTCTACAACAACCTTTACTGTCATCTGTTGGGAAAGTGTCATAGCAAACATCCCTATCTACAGCATCTGTCCTGTAAATGGTATCTTTTAGGTTTATATAATGTACACAATTTGTTCACCAGTGTGCAGTGACCTGATTTCATGTCCCTATCCTACAGATCTTCTTACTATTCCACCTGGTTTCAAGAAAGGCATGGACTTTGCACCAAAAGGTTAGTTTTAGTTTTTGAGTGGGGTGTAGGAGAAGTCATGTCCTTCTCCTAAGGAACAGAGATGGACATGACAAGGTTGACCTTGTTGGCTTGCTCCTCAGATTGTCCAACTCCAGCTCCTGGACTACTAAGCCTTAGCTGTATGTTGGAGCCTCTGGATTTGGGTGGGGGTGACGAGGATGAGAATGAGGCAGTGGGACAGCCAGGAGGTCCCAGAGGGGACACTGTTTCAGCCTCTCCCTGCAGTGCTCCCCTGGCCCGAGCAAGCAGCTTGGAAGACCTAGTGTTGAAGGTTGGTGGTTCTGTGTAGTGGAGGCAAGAAAGAGCCTTGCCACCAGGATGTGGGCTGGCTAGGATGGGTCTGAGGGGAAGAAAGGGACATCTTTTGGGAGGAGTGCTAATTGAGAGCCCTCTGGTTGTATCTTTATCACTGCTACCCCTGACTCTTCCAGGAAGCGTCCACAGCTGTATCCACCCCAGAGGCCCCAGAGCCTCCATCTCAGGAGCAGTGGGCCATCCCTGTGGACGCCACCTCCCCTGTTGGTGATTTCTATCGCCTCATTCCCCAGCCAGCCTTCCAGGTACTTTGGCCCCATCTTCACACGCTCCTCTACCTCTTTCTGGGTCACACTCCCAGCCGACCCCTTGTCTCCTCTATTGGCCAGAGGTCAGATCCATCCCAGGCCAGTCTTGGTACTCAGTCCCAGCCTCGGCTGGCTCCGGCCTTCATCCGCCCGCCCTGCGTGCTCCATGAGCAGGAGGCAGCAAGGCCCCGCTCCTTTCTTCAGCTCCTGTCTATTTCTCTCTCCCATAGTGGGCATTTGAGCCAGATGTGTTTCAGAAACAGGCCATCCTGCACTTGGAACGGCATGACTCTGTCTTTGTCGCAGCTCACACATCTGCAGGAAAAACAGTTGGGGCTGAATATGCCATTGCCCTGGCCCAGAAACACATGACACGGTATGAGTTCCTTTGCCAACCTCCCCCTTCACCAGCCAGCCCCATTTTCTCCTGCATCCTTTGAAAATCTCATCTCTTCCCCCACCTCTCTAGCTCATCCTTTAAGTGAGAGGTTCAGGGCTAAGACTGAGACAAGAGCCCAGAGAGAAATGAAAAGACATGGTGGGGAGAAAGTTTAGAAGAATGACCTGGGTTAGTTTAGGAAGGGGTTGGGGACAGAATTTTTCTGGGGTTATATCATGCAGGAGAATGTAAGGGCAGTTTGGGTGAAGAAGAGGAGCACCTGAGCTTCTGGGGCATGCTTCCACGAGGGCTCCATGTGGGAGAGGAAGTGCGGGCCATGAGTCTGCGGAGGGACTGGCTAACTTCATGCTCTCTTCCCAGCACCATCTACACTTCGCCCATCAAGGCCCTGAGCAACCAGAAGTTCCGGGACTTCCGAAACACATTCGGGGATGTGGGGCTGCTCACCGGGGATGTACAGCTGCATCCGGAGGCCTCCTGCCTCATCATGACCACAGAGATCCTTCGGTGAGAGATGGACACTCAATACAGGGGAGTTTTGGCTGGGAAGATGTGGCCGTTGTGGAGAGTGTGCTGTCTGAGGAGGGGGTGGAGACGAGCCACTGGGGAGTCAATCCTTGGCCTCTTCTCCCCAGCTCCATGCTGTACAGTGGCTCAGATGTTATTCGGGACCTGGAGTGGGTCATCTTTGATGAGGTTCACTATATCAACGATGTCGAGGTAAGGGCCATGGGCTCCCCAGAACCCGGCAGTCCTCTCCTTTGGGACCAGTTGAGCGTCTCCCTTATTCCACACACTCAGGGCCCCTTACTGCTTTCTTTACCCCCATATGGAATCCTGTGCCTCTTTATGGGCAGAAGGGCGGCCCCTGCCCTCATGTGACCTCCCTTCCCTCTCTGTGCCCAGCGTGGGGTCGTGTGGGAGGAGGTGCTTATCATGCTACCTGACCACGTTTCTATCATCCTTCTGAGTGCCACCGTCCCCAACGCCCTTGAGTTTGCTGACTGGATTGGGTGAGACGTGTGTCCCGGGTTGCCTGGGTGAAGGGGGCTACAGTACTCCTTGATTCGGGTGGGGGACTAAGTCTACCACAGCAAGGAGAGCGGTCAGGCCTTAGGGGTGATGCTGGGGAACATGTCCCACCTGGTGGCTGTGGGATCCCCTTTGGGTCCAGATTACTTTGCATGTTGAAATGGGATGAGATGTTGGGGGATAGCCTTCCATTCTGGGTCTCAGAAAAGACTGGGTAAAGTTGGAGGGGTAGGGAAGGGGGTGGGGATGTGGGTTCCTTCCCACGTTCCCACCCCTGACCTGCTTCCCTCTCCTTTCTTCAGGCGGCTGAAGCGTCGTCAGATCTATGTGATTAGCACTGTAACCCGCCCCGTGCCCCTGGAGCACTATCTTTTCACAGGGAACAGCTCCAAGACCCAGGGGGAGCTCTTTTTGTTGCTGGACTCCCGAGGAGCCTTCCATACAAAAGGGTAAGCCTCGAGATGGGGGAAAGAGTTAGGGCTGGGCCCCCAGCTGGACATTGTGGCTACCCCTCCCTGTGCCCCAGGTACTATGCAGCTGTGGAGGCCAAGAAGGAGAGAATGAGCAAACACGCCCAGACCTTTGGGGCCAAGCAGCCCACACATCAGGGGGGCCCTGCACAGGTGAGAACTGGGAGGGTTTTGTACCTGCCAGCACCTGTTTTTCCTCCTATCTTTTTTTTCCCCTTGTCCCCCAGGGGTTTTGACTTGAGCTTTGAGCACTGCCCCAGTTAACACTAGCTCACCTCTCATTGGTTCAGGAACTCAACCTCTGCTCCTTCCCCTTCCCCTTCCTTCTCCAGGACCGCGGAGTGTACCTGTCCCTCCTGGCCTCCCTCCGCACACGTGCCCAGTTGCCCGTGGTGGTGTTCACCTTCTCCCGGGGCCGCTGTGATGAGCAGGCCTCAGGCCTCACCTCCCTTGACCTCACCACCAGTTCGGAGAAGAGC
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Task1_train_10141
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The following genetic variant occurs in SKIC2 (SKI2 subunit of superkiller complex) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Trichohepatoenteric syndrome 2
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ATGGTGGGGAGAAAGTTTAGAAGAATGACCTGGGTTAGTTTAGGAAGGGGTTGGGGACAGAATTTTTCTGGGGTTATATCATGCAGGAGAATGTAAGGGCAGTTTGGGTGAAGAAGAGGAGCACCTGAGCTTCTGGGGCATGCTTCCACGAGGGCTCCATGTGGGAGAGGAAGTGCGGGCCATGAGTCTGCGGAGGGACTGGCTAACTTCATGCTCTCTTCCCAGCACCATCTACACTTCGCCCATCAAGGCCCTGAGCAACCAGAAGTTCCGGGACTTCCGAAACACATTCGGGGATGTGGGGCTGCTCACCGGGGATGTACAGCTGCATCCGGAGGCCTCCTGCCTCATCATGACCACAGAGATCCTTCGGTGAGAGATGGACACTCAATACAGGGGAGTTTTGGCTGGGAAGATGTGGCCGTTGTGGAGAGTGTGCTGTCTGAGGAGGGGGTGGAGACGAGCCACTGGGGAGTCAATCCTTGGCCTCTTCTCCCCAGCTCCATGCTGTACAGTGGCTCAGATGTTATTCGGGACCTGGAGTGGGTCATCTTTGATGAGGTTCACTATATCAACGATGTCGAGGTAAGGGCCATGGGCTCCCCAGAACCCGGCAGTCCTCTCCTTTGGGACCAGTTGAGCGTCTCCCTTATTCCACACACTCAGGGCCCCTTACTGCTTTCTTTACCCCCATATGGAATCCTGTGCCTCTTTATGGGCAGAAGGGCGGCCCCTGCCCTCATGTGACCTCCCTTCCCTCTCTGTGCCCAGCGTGGGGTCGTGTGGGAGGAGGTGCTTATCATGCTACCTGACCACGTTTCTATCATCCTTCTGAGTGCCACCGTCCCCAACGCCCTTGAGTTTGCTGACTGGATTGGGTGAGACGTGTGTCCCGGGTTGCCTGGGTGAAGGGGGCTACAGTACTCCTTGATTCGGGTGGGGGACTAAGTCTACCACAGCAAGGAGAGCGGTCAGGCCTTAGGGGTGATGCTGGGGAACATGTCCCACCTGGTGGCTGTGGGATCCCCTTTGGGTCCAGATTACTTTGCATGTTGAAATGGGATGAGATGTTGGGGGATAGCCTTCCATTCTGGGTCTCAGAAAAGACTGGGTAAAGTTGGAGGGGTAGGGAAGGGGGTGGGGATGTGGGTTCCTTCCCACGTTCCCACCCCTGACCTGCTTCCCTCTCCTTTCTTCAGGCGGCTGAAGCGTCGTCAGATCTATGTGATTAGCACTGTAACCCGCCCCGTGCCCCTGGAGCACTATCTTTTCACAGGGAACAGCTCCAAGACCCAGGGGGAGCTCTTTTTGTTGCTGGACTCCCGAGGAGCCTTCCATACAAAAGGGTAAGCCTCGAGATGGGGGAAAGAGTTAGGGCTGGGCCCCCAGCTGGACATTGTGGCTACCCCTCCCTGTGCCCCAGGTACTATGCAGCTGTGGAGGCCAAGAAGGAGAGAATGAGCAAACACGCCCAGACCTTTGGGGCCAAGCAGCCCACACATCAGGGGGGCCCTGCACAGGTGAGAACTGGGAGGGTTTTGTACCTGCCAGCACCTGTTTTTCCTCCTATCTTTTTTTTCCCCTTGTCCCCCAGGGGTTTTGACTTGAGCTTTGAGCACTGCCCCAGTTAACACTAGCTCACCTCTCATTGGTTCAGGAACTCAACCTCTGCTCCTTCCCCTTCCCCTTCCTTCTCCAGGACCGCGGAGTGTACCTGTCCCTCCTGGCCTCCCTCCGCACACGTGCCCAGTTGCCCGTGGTGGTGTTCACCTTCTCCCGGGGCCGCTGTGATGAGCAGGCCTCAGGCCTCACCTCCCTTGACCTCACCACCAGTTCGGAGAAGAGCGAGATCCACCTCTTCCTGCAGCGCTGCCTTGCTCGCCTCCGTGGCTCTGACCGCCAGCTGCCCCAGGTGCGTCTGTGTGCGTCTGTGTGCGTGCATGCACACATTTGGCAGACTGGTGGGGATAGGGTGTTCCGAGACTCCATCCCTGACCATGGGCCTCCTCCCACCAAAGGTCCTGCACATGTCAGAGCTCCTGAATCGCGGCCTGGGTGTGCACCATAGCGGCATCCTGCCCATCCTCAAGGAGATCGTGGAGATGCTCTTCAGCCGTGGCCTGGTCAAGGTGCATGTGGTGGTGGAAAGGGACTCCTCAGGGTGCTTGTTGCCCACTTAGGGGCTGCCCAGAGGGCAGAGGGGCAGAGGTTTAGGCAGGCCAGTGCTGTGGTTAAGAATCTGGGCTCTGGATTCAGACTACCTGGGTTTGAATCCCAGGTACACCATGTATTCACAGTATCATCCTGGACCAATTATTTAACCTTCCTGAACTTTAGGTTTCCCATCTTAAAATGGGGATGCATAAGATATGAATACGTAGGTCTCAGAAAAGAAACCCAGGAAGCTAGCAAGCATTCGAAAAGTTATTAGTAATCAGAAATATACAAATTGAAGTACTCACAAGATACGACTTTACAGCTATTAGACTGGTAAAATTTAGGAAACTAGTTCATGCCGAGTGTTGCCAGAGATATAGGAGGTTGTAGGGTTCTGGGAATCCTTTACGGGATGCCTAGCCAGTTTGGAATGCACGCTGGCACTATTTAGACAAAATAACTATATTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCAAGATAGCACCGCTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAACAAAAACAAACAAAGAAACAAACAAAAACTATATCATACTCTGAGCTTATATTTCATTCCTGGGTATATATCACAAAGAAATTCTCACCCTGGTCTGTGAGAGAACATGTACACCCATCCTTTGTTTGTGGTGGCATGGTGTTGGTAGTACCAGGGTGCCCTTCACTGGGAGAGAGGGAAGGTTAGTGTGGGGGATGCACCCATAGAGTGTTCTGCAGCAGTTGGAAGCAGTGGGTTAGATGTGGCCACAGGAACATGGACAGATGTTGAAACACTAGGTGGAGAAAAAGAAGCAAAAAAAAATCAGATATATAACCACTTTTTATATGAATTATAAACTACAAGCTCACAAAAGAAGACATGTTCTATAAGATCATATTTATATAAAAAGATATTTGTTGGATACATTGGAATGATTGCAGTCAGGGATGGGAATGGGATATGAAGGTAAAAGTTAAGAAATAGAAATAAGTAGCTACATAAGTAAAATGAGGAAAACAATAATACCTGCCCTATAGATTTGCCTGGAGAGTTCAGTGAGATCCCATAAGTAACAACTGGGATGGTGCCTTATGCCTACAAAGTAAGGTGGGCTTGGCCAGGGCTGGGGGTGTGTGTATGTAGAGCCTTTGCTGATCCTTTCTGTTCTCCTCTGTCCCAGGTCTTGTTTGCCACAGAGACCTTTGCCATGGGAGTAAACATGCCTGCTCGTACAGTAGTGTTTGACTCCATGCGCAAACACGATGGCTCCACCTTCCGGGACCTGCTCCCTGGGGAGTATGTGCAGATGGCAGGCCGGGCAGGGCGGAGGGGCCTGGACCCCACAGGCACCGTTATCCTGCTCTGCAAGGGCCGAGTGCCCGAGATGGCAGACCTGCACCGCATGATGATGGTGAGCGGGCCAGCATGCTCGGCAGGGCCCCAGCTCCAGGACCTTGCTGGATTCTGTCTTCGATTCTCCTCTCTTCTTTTTCTTCTTCCTTTTTTTTTTGGAGACAGGGTCTTGCTCTGTTACCTAGGCTGGAGTGCAGTGGCACAATCTCGGGTCACCGCAACCTCTGCCTTCCAGGCTCAAGGGATCCTCCCACCTCAGCCTCCCAAGTAGGTGGGATTCCAGGCACATGCCACACAGGCCTGGCTAATTTTTTTTTTTTTTTTATGCTTTGTAGAGATGAGGTTTTGCTATGT
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ATGGTGGGGAGAAAGTTTAGAAGAATGACCTGGGTTAGTTTAGGAAGGGGTTGGGGACAGAATTTTTCTGGGGTTATATCATGCAGGAGAATGTAAGGGCAGTTTGGGTGAAGAAGAGGAGCACCTGAGCTTCTGGGGCATGCTTCCACGAGGGCTCCATGTGGGAGAGGAAGTGCGGGCCATGAGTCTGCGGAGGGACTGGCTAACTTCATGCTCTCTTCCCAGCACCATCTACACTTCGCCCATCAAGGCCCTGAGCAACCAGAAGTTCCGGGACTTCCGAAACACATTCGGGGATGTGGGGCTGCTCACCGGGGATGTACAGCTGCATCCGGAGGCCTCCTGCCTCATCATGACCACAGAGATCCTTCGGTGAGAGATGGACACTCAATACAGGGGAGTTTTGGCTGGGAAGATGTGGCCGTTGTGGAGAGTGTGCTGTCTGAGGAGGGGGTGGAGACGAGCCACTGGGGAGTCAATCCTTGGCCTCTTCTCCCCAGCTCCATGCTGTACAGTGGCTCAGATGTTATTCGGGACCTGGAGTGGGTCATCTTTGATGAGGTTCACTATATCAACGATGTCGAGGTAAGGGCCATGGGCTCCCCAGAACCCGGCAGTCCTCTCCTTTGGGACCAGTTGAGCGTCTCCCTTATTCCACACACTCAGGGCCCCTTACTGCTTTCTTTACCCCCATATGGAATCCTGTGCCTCTTTATGGGCAGAAGGGCGGCCCCTGCCCTCATGTGACCTCCCTTCCCTCTCTGTGCCCAGCGTGGGGTCGTGTGGGAGGAGGTGCTTATCATGCTACCTGACCACGTTTCTATCATCCTTCTGAGTGCCACCGTCCCCAACGCCCTTGAGTTTGCTGACTGGATTGGGTGAGACGTGTGTCCCGGGTTGCCTGGGTGAAGGGGGCTACAGTACTCCTTGATTCGGGTGGGGGACTAAGTCTACCACAGCAAGGAGAGCGGTCAGGCCTTAGGGGTGATGCTGGGGAACATGTCCCACCTGGTGGCTGTGGGATCCCCTTTGGGTCCAGATTACTTTGCATGTTGAAATGGGATGAGATGTTGGGGGATAGCCTTCCATTCTGGGTCTCAGAAAAGACTGGGTAAAGTTGGAGGGGTAGGGAAGGGGGTGGGGATGTGGGTTCCTTCCCACGTTCCCACCCCTGACCTGCTTCCCTCTCCTTTCTTCAGGCGGCTGAAGCGTCGTCAGATCTATGTGATTAGCACTGTAACCCGCCCCGTGCCCCTGGAGCACTATCTTTTCACAGGGAACAGCTCCAAGACCCAGGGGGAGCTCTTTTTGTTGCTGGACTCCCGAGGAGCCTTCCATACAAAAGGGTAAGCCTCGAGATGGGGGAAAGAGTTAGGGCTGGGCCCCCAGCTGGACATTGTGGCTACCCCTCCCTGTGCCCCAGGTACTATGCAGCTGTGGAGGCCAAGAAGGAGAGAATGAGCAAACACGCCCAGACCTTTGGGGCCAAGCAGCCCACACATCAGGGGGGCCCTGCACAGGTGAGAACTGGGAGGGTTTTGTACCTGCCAGCACCTGTTTTTCCTCCTATCTTTTTTTTCCCCTTGTCCCCCAGGGGTTTTGACTTGAGCTTTGAGCACTGCCCCAGTTAACACTAGCTCACCTCTCATTGGTTCAGGAACTCAACCTCTGCTCCTTCCCCTTCCCCTTCCTTCTCCAGGACCGCGGAGTGTACCTGTCCCTCCTGGCCTCCCTCCGCACACGTGCCCAGTTGCCCGTGGTGGTGTTCACCTTCTCCCGGGGCCGCTGTGATGAGCAGGCCTCAGGCCTCACCTCCCTTGACCTCACCACCAGTTCGGAGAAGAGCGAGATCCACCTCTTCCTGCAGCGCTGCCTTGCTCGCCTCCGTGGCTCTGACCGCCAGCTGCCCCAGGTGCGTCTGTGTGCGTCTGTGTGCGTGCATGCACACATTTGGCAGACTGGTGGGGATAGGGTGTTCCGAGACTCCATCCCTGACCATGGGCCTCCTCCCACCAAAGGTCCTGCACATGTCAGAGCTCCTGAATCGCAGCCTGGGTGTGCACCATAGCGGCATCCTGCCCATCCTCAAGGAGATCGTGGAGATGCTCTTCAGCCGTGGCCTGGTCAAGGTGCATGTGGTGGTGGAAAGGGACTCCTCAGGGTGCTTGTTGCCCACTTAGGGGCTGCCCAGAGGGCAGAGGGGCAGAGGTTTAGGCAGGCCAGTGCTGTGGTTAAGAATCTGGGCTCTGGATTCAGACTACCTGGGTTTGAATCCCAGGTACACCATGTATTCACAGTATCATCCTGGACCAATTATTTAACCTTCCTGAACTTTAGGTTTCCCATCTTAAAATGGGGATGCATAAGATATGAATACGTAGGTCTCAGAAAAGAAACCCAGGAAGCTAGCAAGCATTCGAAAAGTTATTAGTAATCAGAAATATACAAATTGAAGTACTCACAAGATACGACTTTACAGCTATTAGACTGGTAAAATTTAGGAAACTAGTTCATGCCGAGTGTTGCCAGAGATATAGGAGGTTGTAGGGTTCTGGGAATCCTTTACGGGATGCCTAGCCAGTTTGGAATGCACGCTGGCACTATTTAGACAAAATAACTATATTGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCAAGATAGCACCGCTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAACAAAAACAAACAAAGAAACAAACAAAAACTATATCATACTCTGAGCTTATATTTCATTCCTGGGTATATATCACAAAGAAATTCTCACCCTGGTCTGTGAGAGAACATGTACACCCATCCTTTGTTTGTGGTGGCATGGTGTTGGTAGTACCAGGGTGCCCTTCACTGGGAGAGAGGGAAGGTTAGTGTGGGGGATGCACCCATAGAGTGTTCTGCAGCAGTTGGAAGCAGTGGGTTAGATGTGGCCACAGGAACATGGACAGATGTTGAAACACTAGGTGGAGAAAAAGAAGCAAAAAAAAATCAGATATATAACCACTTTTTATATGAATTATAAACTACAAGCTCACAAAAGAAGACATGTTCTATAAGATCATATTTATATAAAAAGATATTTGTTGGATACATTGGAATGATTGCAGTCAGGGATGGGAATGGGATATGAAGGTAAAAGTTAAGAAATAGAAATAAGTAGCTACATAAGTAAAATGAGGAAAACAATAATACCTGCCCTATAGATTTGCCTGGAGAGTTCAGTGAGATCCCATAAGTAACAACTGGGATGGTGCCTTATGCCTACAAAGTAAGGTGGGCTTGGCCAGGGCTGGGGGTGTGTGTATGTAGAGCCTTTGCTGATCCTTTCTGTTCTCCTCTGTCCCAGGTCTTGTTTGCCACAGAGACCTTTGCCATGGGAGTAAACATGCCTGCTCGTACAGTAGTGTTTGACTCCATGCGCAAACACGATGGCTCCACCTTCCGGGACCTGCTCCCTGGGGAGTATGTGCAGATGGCAGGCCGGGCAGGGCGGAGGGGCCTGGACCCCACAGGCACCGTTATCCTGCTCTGCAAGGGCCGAGTGCCCGAGATGGCAGACCTGCACCGCATGATGATGGTGAGCGGGCCAGCATGCTCGGCAGGGCCCCAGCTCCAGGACCTTGCTGGATTCTGTCTTCGATTCTCCTCTCTTCTTTTTCTTCTTCCTTTTTTTTTTGGAGACAGGGTCTTGCTCTGTTACCTAGGCTGGAGTGCAGTGGCACAATCTCGGGTCACCGCAACCTCTGCCTTCCAGGCTCAAGGGATCCTCCCACCTCAGCCTCCCAAGTAGGTGGGATTCCAGGCACATGCCACACAGGCCTGGCTAATTTTTTTTTTTTTTTTATGCTTTGTAGAGATGAGGTTTTGCTATGT
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Task1_train_10142
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This mutation is located in gene CYP21A2, LOC106780800, LOC110631417 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region| CYP21A2 5' regulatory region) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; not provided
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GGGAAGGCTTCCTGGAGCAGGTGGCCTCCAAGTGGGGCTCTGAAGACTGAGAAGGAGCCAGGAAAAGAGCAGGGGTAGATGAGGGCATCTGGGGCAGAAGGAGAATATACAAAGGCCCAGAGGCCGGGGGCAGGACAGGGTACCTTTGGGGACATTGCATGTAATTGACCACATTCGGAGTTTGGATTTGGAAGTGGTGGAAGAGATGGAGATGGTGAGACAAGTAGTAAGCACGTCAGCCTTCCAGGTGCGCTCCTTTCCGATGAGCACTGTCTTATCCCACGTAACTTTGAGAAGTTTGGGCCTTTCCCACTGTGGCAGAGGTTTCCTGAGGCTCTTGCATACATGGCCCTATGGTTGCTCATCAGATCTTTCTCCCAGTAGCTGCTCAGCATGGTGGTGGCATAAGCCCATTTTCCGGAGCCAGGGATTCAGTTGCAGCAAGACATGGCCCGGTCTGGGAGGTCAACCATGAAGAAGGCAGTAGCTGTCATTGCCCAACCCCAGAAATCCCAATCCTGTTTTCTCCCTCTCAGTCCTGATCATGGATTCAGCAGCAGCGAACTCGCCAATGTAGTGGGTGGCACAGCCAGGGTCTTGACTCTGGCTCTGCAGTAGCACAGTCTGGAAAAGCTCTGAGGGGAGAGAGACCCCCACTGGTCCGAGGGTCTGGCACAGAGCCAGAAATGGGGGGGAAGGTATGGGGCTGGGTCGCCTCTGACCTCTCAGGTACCATCCAGGAGGCCCTGGCCTCTCACTGAACCCGGCCACTCCTCTTTGGCATGGCCTCTTCCCAAATCCCCAAACTGCCTCCTTACCCACAAAAGTGGTCTCTGAGTGTCAGTCCAGTGGGACCCCCACCCCTTATGGCTTCAGTTCCCCAAATAGGGCTGGACCCTTGATCCTGATCCAGCTGTGGCTATCCAGCCCCTTCCTGGGGACTTTGGACTTTGAGGGGGGCATGCCCAGTTGTGCTGGGAATCCATACTTTCCCTGGCTGGAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGT
|
GGGAAGGCTTCCTGGAGCAGGTGGCCTCCAAGTGGGGCTCTGAAGACTGAGAAGGAGCCAGGAAAAGAGCAGGGGTAGATGAGGGCATCTGGGGCAGAAGGAGAATATACAAAGGCCCAGAGGCCGGGGGCAGGACAGGGTACCTTTGGGGACATTGCATGTAATTGACCACATTCGGAGTTTGGATTTGGAAGTGGTGGAAGAGATGGAGATGGTGAGACAAGTAGTAAGCACGTCAGCCTTCCAGGTGCGCTCCTTTCCGATGAGCACTGTCTTATCCCACGTAACTTTGAGAAGTTTGGGCCTTTCCCACTGTGGCAGAGGTTTCCTGAGGCTCTTGCATACATGGCCCTATGGTTGCTCATCAGATCTTTCTCCCAGTAGCTGCTCAGCATGGTGGTGGCATAAGCCCATTTTCCGGAGCCAGGGATTCAGTTGCAGCAAGACATGGCCCGGTCTGGGAGGTCAACCATGAAGAAGGCAGTAGCTGTCATTGCCCAACCCCAGAAATCCCAATCCTGTTTTCTCCCTCTCAGTCCTGATCATGGATTCAGCAGCAGCGAACTCGCCAATGTAGTGGGTGGCACAGCCAGGGTCTTGACTCTGGCTCTGCAGTAGCACAGTCTGGAAAAGCTCTGAGGGGAGAGAGACCCCCACTGGTCCGAGGGTCTGGCACAGAGCCAGAAATGGGGGGGAAGGTATGGGGCTGGGTCGCCTCTGACCTCTCAGGTACCATCCAGGAGGCCCTGGCCTCTCACTGAACCCGGCCACTCCTCTTTGGCATGGCCTCTTCCCAAATCCCCAAACTGCCTCCTTACCCACAAAAGTGGTCTCTGAGTGTCAGTCCAGTGGGACCCCCACCCCTTATGGCTTCAGTTCCCCAAATAGGGCTGGACCCTTGATCCTGATCCAGCTGTGGCTATCCAGCCCCTTCCTGGGGACTTTGGACTTTGAGGGGGGCATGCCCAGTTGTGCTGGGAATCCATACTTTCCCTGGCTGGAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCGTGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGT
|
Task1_train_10143
|
A genomic change on Chromosome 6 affects CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; not provided
|
GGGCAGAAGGAGAATATACAAAGGCCCAGAGGCCGGGGGCAGGACAGGGTACCTTTGGGGACATTGCATGTAATTGACCACATTCGGAGTTTGGATTTGGAAGTGGTGGAAGAGATGGAGATGGTGAGACAAGTAGTAAGCACGTCAGCCTTCCAGGTGCGCTCCTTTCCGATGAGCACTGTCTTATCCCACGTAACTTTGAGAAGTTTGGGCCTTTCCCACTGTGGCAGAGGTTTCCTGAGGCTCTTGCATACATGGCCCTATGGTTGCTCATCAGATCTTTCTCCCAGTAGCTGCTCAGCATGGTGGTGGCATAAGCCCATTTTCCGGAGCCAGGGATTCAGTTGCAGCAAGACATGGCCCGGTCTGGGAGGTCAACCATGAAGAAGGCAGTAGCTGTCATTGCCCAACCCCAGAAATCCCAATCCTGTTTTCTCCCTCTCAGTCCTGATCATGGATTCAGCAGCAGCGAACTCGCCAATGTAGTGGGTGGCACAGCCAGGGTCTTGACTCTGGCTCTGCAGTAGCACAGTCTGGAAAAGCTCTGAGGGGAGAGAGACCCCCACTGGTCCGAGGGTCTGGCACAGAGCCAGAAATGGGGGGGAAGGTATGGGGCTGGGTCGCCTCTGACCTCTCAGGTACCATCCAGGAGGCCCTGGCCTCTCACTGAACCCGGCCACTCCTCTTTGGCATGGCCTCTTCCCAAATCCCCAAACTGCCTCCTTACCCACAAAAGTGGTCTCTGAGTGTCAGTCCAGTGGGACCCCCACCCCTTATGGCTTCAGTTCCCCAAATAGGGCTGGACCCTTGATCCTGATCCAGCTGTGGCTATCCAGCCCCTTCCTGGGGACTTTGGACTTTGAGGGGGGCATGCCCAGTTGTGCTGGGAATCCATACTTTCCCTGGCTGGAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCC
|
GGGCAGAAGGAGAATATACAAAGGCCCAGAGGCCGGGGGCAGGACAGGGTACCTTTGGGGACATTGCATGTAATTGACCACATTCGGAGTTTGGATTTGGAAGTGGTGGAAGAGATGGAGATGGTGAGACAAGTAGTAAGCACGTCAGCCTTCCAGGTGCGCTCCTTTCCGATGAGCACTGTCTTATCCCACGTAACTTTGAGAAGTTTGGGCCTTTCCCACTGTGGCAGAGGTTTCCTGAGGCTCTTGCATACATGGCCCTATGGTTGCTCATCAGATCTTTCTCCCAGTAGCTGCTCAGCATGGTGGTGGCATAAGCCCATTTTCCGGAGCCAGGGATTCAGTTGCAGCAAGACATGGCCCGGTCTGGGAGGTCAACCATGAAGAAGGCAGTAGCTGTCATTGCCCAACCCCAGAAATCCCAATCCTGTTTTCTCCCTCTCAGTCCTGATCATGGATTCAGCAGCAGCGAACTCGCCAATGTAGTGGGTGGCACAGCCAGGGTCTTGACTCTGGCTCTGCAGTAGCACAGTCTGGAAAAGCTCTGAGGGGAGAGAGACCCCCACTGGTCCGAGGGTCTGGCACAGAGCCAGAAATGGGGGGGAAGGTATGGGGCTGGGTCGCCTCTGACCTCTCAGGTACCATCCAGGAGGCCCTGGCCTCTCACTGAACCCGGCCACTCCTCTTTGGCATGGCCTCTTCCCAAATCCCCAAACTGCCTCCTTACCCACAAAAGTGGTCTCTGAGTGTCAGTCCAGTGGGACCCCCACCCCTTATGGCTTCAGTTCCCCAAATAGGGCTGGACCCTTGATCCTGATCCAGCTGTGGCTATCCAGCCCCTTCCTGGGGACTTTGGACTTTGAGGGGGGCATGCCCAGTTGTGCTGGGAATCCATACTTTCCCTGGCTGGAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCAGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCC
|
Task1_train_10144
|
The gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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GGGCAGAAGGAGAATATACAAAGGCCCAGAGGCCGGGGGCAGGACAGGGTACCTTTGGGGACATTGCATGTAATTGACCACATTCGGAGTTTGGATTTGGAAGTGGTGGAAGAGATGGAGATGGTGAGACAAGTAGTAAGCACGTCAGCCTTCCAGGTGCGCTCCTTTCCGATGAGCACTGTCTTATCCCACGTAACTTTGAGAAGTTTGGGCCTTTCCCACTGTGGCAGAGGTTTCCTGAGGCTCTTGCATACATGGCCCTATGGTTGCTCATCAGATCTTTCTCCCAGTAGCTGCTCAGCATGGTGGTGGCATAAGCCCATTTTCCGGAGCCAGGGATTCAGTTGCAGCAAGACATGGCCCGGTCTGGGAGGTCAACCATGAAGAAGGCAGTAGCTGTCATTGCCCAACCCCAGAAATCCCAATCCTGTTTTCTCCCTCTCAGTCCTGATCATGGATTCAGCAGCAGCGAACTCGCCAATGTAGTGGGTGGCACAGCCAGGGTCTTGACTCTGGCTCTGCAGTAGCACAGTCTGGAAAAGCTCTGAGGGGAGAGAGACCCCCACTGGTCCGAGGGTCTGGCACAGAGCCAGAAATGGGGGGGAAGGTATGGGGCTGGGTCGCCTCTGACCTCTCAGGTACCATCCAGGAGGCCCTGGCCTCTCACTGAACCCGGCCACTCCTCTTTGGCATGGCCTCTTCCCAAATCCCCAAACTGCCTCCTTACCCACAAAAGTGGTCTCTGAGTGTCAGTCCAGTGGGACCCCCACCCCTTATGGCTTCAGTTCCCCAAATAGGGCTGGACCCTTGATCCTGATCCAGCTGTGGCTATCCAGCCCCTTCCTGGGGACTTTGGACTTTGAGGGGGGCATGCCCAGTTGTGCTGGGAATCCATACTTTCCCTGGCTGGAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCC
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GGGCAGAAGGAGAATATACAAAGGCCCAGAGGCCGGGGGCAGGACAGGGTACCTTTGGGGACATTGCATGTAATTGACCACATTCGGAGTTTGGATTTGGAAGTGGTGGAAGAGATGGAGATGGTGAGACAAGTAGTAAGCACGTCAGCCTTCCAGGTGCGCTCCTTTCCGATGAGCACTGTCTTATCCCACGTAACTTTGAGAAGTTTGGGCCTTTCCCACTGTGGCAGAGGTTTCCTGAGGCTCTTGCATACATGGCCCTATGGTTGCTCATCAGATCTTTCTCCCAGTAGCTGCTCAGCATGGTGGTGGCATAAGCCCATTTTCCGGAGCCAGGGATTCAGTTGCAGCAAGACATGGCCCGGTCTGGGAGGTCAACCATGAAGAAGGCAGTAGCTGTCATTGCCCAACCCCAGAAATCCCAATCCTGTTTTCTCCCTCTCAGTCCTGATCATGGATTCAGCAGCAGCGAACTCGCCAATGTAGTGGGTGGCACAGCCAGGGTCTTGACTCTGGCTCTGCAGTAGCACAGTCTGGAAAAGCTCTGAGGGGAGAGAGACCCCCACTGGTCCGAGGGTCTGGCACAGAGCCAGAAATGGGGGGGAAGGTATGGGGCTGGGTCGCCTCTGACCTCTCAGGTACCATCCAGGAGGCCCTGGCCTCTCACTGAACCCGGCCACTCCTCTTTGGCATGGCCTCTTCCCAAATCCCCAAACTGCCTCCTTACCCACAAAAGTGGTCTCTGAGTGTCAGTCCAGTGGGACCCCCACCCCTTATGGCTTCAGTTCCCCAAATAGGGCTGGACCCTTGATCCTGATCCAGCTGTGGCTATCCAGCCCCTTCCTGGGGACTTTGGACTTTGAGGGGGGCATGCCCAGTTGTGCTGGGAATCCATACTTTCCCTGGCTGGAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCTGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCC
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Task1_train_10145
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The gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; not provided
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CCCAGAGGCCGGGGGCAGGACAGGGTACCTTTGGGGACATTGCATGTAATTGACCACATTCGGAGTTTGGATTTGGAAGTGGTGGAAGAGATGGAGATGGTGAGACAAGTAGTAAGCACGTCAGCCTTCCAGGTGCGCTCCTTTCCGATGAGCACTGTCTTATCCCACGTAACTTTGAGAAGTTTGGGCCTTTCCCACTGTGGCAGAGGTTTCCTGAGGCTCTTGCATACATGGCCCTATGGTTGCTCATCAGATCTTTCTCCCAGTAGCTGCTCAGCATGGTGGTGGCATAAGCCCATTTTCCGGAGCCAGGGATTCAGTTGCAGCAAGACATGGCCCGGTCTGGGAGGTCAACCATGAAGAAGGCAGTAGCTGTCATTGCCCAACCCCAGAAATCCCAATCCTGTTTTCTCCCTCTCAGTCCTGATCATGGATTCAGCAGCAGCGAACTCGCCAATGTAGTGGGTGGCACAGCCAGGGTCTTGACTCTGGCTCTGCAGTAGCACAGTCTGGAAAAGCTCTGAGGGGAGAGAGACCCCCACTGGTCCGAGGGTCTGGCACAGAGCCAGAAATGGGGGGGAAGGTATGGGGCTGGGTCGCCTCTGACCTCTCAGGTACCATCCAGGAGGCCCTGGCCTCTCACTGAACCCGGCCACTCCTCTTTGGCATGGCCTCTTCCCAAATCCCCAAACTGCCTCCTTACCCACAAAAGTGGTCTCTGAGTGTCAGTCCAGTGGGACCCCCACCCCTTATGGCTTCAGTTCCCCAAATAGGGCTGGACCCTTGATCCTGATCCAGCTGTGGCTATCCAGCCCCTTCCTGGGGACTTTGGACTTTGAGGGGGGCATGCCCAGTTGTGCTGGGAATCCATACTTTCCCTGGCTGGAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGG
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CCCAGAGGCCGGGGGCAGGACAGGGTACCTTTGGGGACATTGCATGTAATTGACCACATTCGGAGTTTGGATTTGGAAGTGGTGGAAGAGATGGAGATGGTGAGACAAGTAGTAAGCACGTCAGCCTTCCAGGTGCGCTCCTTTCCGATGAGCACTGTCTTATCCCACGTAACTTTGAGAAGTTTGGGCCTTTCCCACTGTGGCAGAGGTTTCCTGAGGCTCTTGCATACATGGCCCTATGGTTGCTCATCAGATCTTTCTCCCAGTAGCTGCTCAGCATGGTGGTGGCATAAGCCCATTTTCCGGAGCCAGGGATTCAGTTGCAGCAAGACATGGCCCGGTCTGGGAGGTCAACCATGAAGAAGGCAGTAGCTGTCATTGCCCAACCCCAGAAATCCCAATCCTGTTTTCTCCCTCTCAGTCCTGATCATGGATTCAGCAGCAGCGAACTCGCCAATGTAGTGGGTGGCACAGCCAGGGTCTTGACTCTGGCTCTGCAGTAGCACAGTCTGGAAAAGCTCTGAGGGGAGAGAGACCCCCACTGGTCCGAGGGTCTGGCACAGAGCCAGAAATGGGGGGGAAGGTATGGGGCTGGGTCGCCTCTGACCTCTCAGGTACCATCCAGGAGGCCCTGGCCTCTCACTGAACCCGGCCACTCCTCTTTGGCATGGCCTCTTCCCAAATCCCCAAACTGCCTCCTTACCCACAAAAGTGGTCTCTGAGTGTCAGTCCAGTGGGACCCCCACCCCTTATGGCTTCAGTTCCCCAAATAGGGCTGGACCCTTGATCCTGATCCAGCTGTGGCTATCCAGCCCCTTCCTGGGGACTTTGGACTTTGAGGGGGGCATGCCCAGTTGTGCTGGGAATCCATACTTTCCCTGGCTGGAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCTCCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGG
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Task1_train_10146
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This genomic variant is located on Chromosome 6, within the CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; not specified
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GGAGGCCCTGGCCTCTCACTGAACCCGGCCACTCCTCTTTGGCATGGCCTCTTCCCAAATCCCCAAACTGCCTCCTTACCCACAAAAGTGGTCTCTGAGTGTCAGTCCAGTGGGACCCCCACCCCTTATGGCTTCAGTTCCCCAAATAGGGCTGGACCCTTGATCCTGATCCAGCTGTGGCTATCCAGCCCCTTCCTGGGGACTTTGGACTTTGAGGGGGGCATGCCCAGTTGTGCTGGGAATCCATACTTTCCCTGGCTGGAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCC
|
GGAGGCCCTGGCCTCTCACTGAACCCGGCCACTCCTCTTTGGCATGGCCTCTTCCCAAATCCCCAAACTGCCTCCTTACCCACAAAAGTGGTCTCTGAGTGTCAGTCCAGTGGGACCCCCACCCCTTATGGCTTCAGTTCCCCAAATAGGGCTGGACCCTTGATCCTGATCCAGCTGTGGCTATCCAGCCCCTTCCTGGGGACTTTGGACTTTGAGGGGGGCATGCCCAGTTGTGCTGGGAATCCATACTTTCCCTGGCTGGAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACCAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCC
|
Task1_train_10147
|
This sequence variant lies in CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) on Chromosome 6. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
|
TGGCTGGAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTT
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TGGCTGGAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTACAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTT
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Task1_train_10148
|
A variant was discovered on Chromosome 6, affecting CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; not provided
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GAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAG
|
GAGTAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCAACATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAG
|
Task1_train_10149
|
The gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Congenital adrenal hyperplasia
|
TAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGA
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TAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCAACTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGA
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Task1_train_10150
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This mutation is located in gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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TAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGA
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TAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCAACTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGA
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Task1_train_10151
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A genomic change on Chromosome 6 affects CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Inborn genetic diseases
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TAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGA
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TAGAACCTGTGGACTGTAGTCCTGAGGGCAGTCATGTTCTGCCTGTGCCTGGAAACACAAGAAACTTGACTGCAGAGAGAAGAAAGAGGAGAGAGGAACAGAGCGAGGAAACCGCCCGTCTCCGGGGCTTTTTCTGTTCCCTATCCTTGACTTTCTAAGACCAGTGGGGTCCCCTCCTCTGCTTCTTTTTCCTGAGTTCTGTGAAATTCCCCAATTCTTATTTTTTATCTCAAACCAGCTCAAGGTGGGCTGTTTTCCTTTCAACCAAAGAAAGGTGCTCCTGGTGGCTAAAGGTACATATTCGACAGCTAGATTTCCAGGCTGGAATCCTGCCCTCCACAACATGCGAACAATACCCGTGTTGCATATAGAGCATGGCTGTGAAGAGTTGAGTGAGTGCCCACAAAGCACTTAGAGCAGTGTCTGGTACATGCTATTACTCCGCAGCGGGAAACCACTTCCTCCTTTGTCTTCTGGGCACTTTTGTGAGTGAAAGGAGGCACTAATAACAATCACACTGGGATACCTGTATATACTGGAATGCCCCAGGCAAACCAGGCTTAAACTGTATTACTCTATCTGTAGCTTAAACTAACAAACAACCCACACAAATCACATTTTGTTCTTCAGGCGATTCAGGAAGGCCTATTAGGCAGGGACTGCCATTTTCTCTCTGAGACAAACATCATGCCAGTAAACTGGCCCACGGTGGGGTGGCAGAGGGAGAGGGCCCAGGTGGGGGCGGACACTATTGCCTGCACAGTTGATGTGGAACCAGAAAGCTGACTCTGGATGCAGGAAAAAGGTCAGGGTTGCATTTCCCTTCCTTGCTTCTTGATGGGTGATCAATTTTTTTGAAATACGGACGTCCCAAGGCCAATGAGACTGGTGTCATTCCAGAAAAGGGCCACTCTGTGGGCGGGTCGGTGGGAGGGTACCTGAAGGTGGGGTCAAGGGAGGCCCCAAAACAGTCTACACAGCAGGAGGGATGGCTGGGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCAACTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGA
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Task1_train_10152
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A variant found in Chromosome 6 affects CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; not provided
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GGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCC
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GGGCTCTTGAGCTATAAGTGGCACCTCAGGGCCCTGACGGGCGTCTCGCCATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGGAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCC
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Task1_train_10153
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Consider a variant on Chromosome 6 in gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region). Determine its clinical classification and disease relevance.
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Pathogenic; Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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CCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGT
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CCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCATGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGT
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Task1_train_10154
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This alteration occurs within gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) located on Chromosome 6. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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TGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGG
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TGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGGAACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCATGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGG
|
Task1_train_10155
|
This sequence variant lies in CYP21A2, LOC106780800, TNXB (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region| tenascin XB) on Chromosome 6. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
|
GGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCC
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GGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGTGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCC
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Task1_train_10156
|
A mutation found in CYP21A2, LOC106780800, TNXB (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region| tenascin XB) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; CYP21A2-related disorder
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GGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCC
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GGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGTGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCC
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Task1_train_10157
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Gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; not provided
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CGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTG
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CGCCTCTTGCCCCGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCTACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTG
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Task1_train_10158
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The following genetic variant occurs in CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; not provided
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CGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTGGGAGAGGAGAGC
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CGGGCTTCTTGCACCTGCTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTACAGGCTCCACCTTGGGCTGCAAGGTGAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACATGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTGGGAGAGGAGAGC
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Task1_train_10159
|
This is a variant in CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region), located on Chromosome 6. Is this mutation a likely cause of disease or not?
|
Pathogenic; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
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GAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTGGGAGAGGAGAGCAGGGGCCAGTCCTTTTCCAAGCCTTAGGCCCTGGCTGCCCACCCAGCCCCCGGCCCCGGGCCCGTGCGTCCAGGTACCCGTGGTGAAAGAGGTGGACACGG
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GAGAGGCTGATCTCGCTCTGGCCCTCACCATAGGAGGGGGCGGAGGTGACGGAGAGGGTCCTCTCTCCGCTGACGCTGCTTTGGCTGTCTCCCAGATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAAGCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCTGTAAGGGCCGGGGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCAGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTGGGAGAGGAGAGCAGGGGCCAGTCCTTTTCCAAGCCTTAGGCCCTGGCTGCCCACCCAGCCCCCGGCCCCGGGCCCGTGCGTCCAGGTACCCGTGGTGAAAGAGGTGGACACGG
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Task1_train_10160
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A mutation on Chromosome 6 affecting CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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GGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTGGGAGAGGAGAGCAGGGGCCAGTCCTTTTCCAAGCCTTAGGCCCTGGCTGCCCACCCAGCCCCCGGCCCCGGGCCCGTGCGTCCAGGTACCCGTGGTGAAAGAGGTGGACACGGGCGGCAGGAGGCTCTGGCCCCACATGGCCTGGAGCCGTGCATTGTAGGAGGTGGAGGGAAAGAGGCCAAGGAGCTGGTGAGATGTGATCCCTCCTGGGAGCAGGATCTCCTGTGGGACAGACAAGGGGGGGTCAGGGGAGAGGGAGGTGGAGACCCTCCGGGAGGGCCAGAGGCAGCACCTCCTGGAATCACCCAG
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GGGCATTTTTTCTTTCTTAAAAAAATTTTTTTTTAAGAGATGGGTTCTTGCTATGCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATTGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTGGGAGAGGAGAGCAGGGGCCAGTCCTTTTCCAAGCCTTAGGCCCTGGCTGCCCACCCAGCCCCCGGCCCCGGGCCCGTGCGTCCAGGTACCCGTGGTGAAAGAGGTGGACACGGGCGGCAGGAGGCTCTGGCCCCACATGGCCTGGAGCCGTGCATTGTAGGAGGTGGAGGGAAAGAGGCCAAGGAGCTGGTGAGATGTGATCCCTCCTGGGAGCAGGATCTCCTGTGGGACAGACAAGGGGGGGTCAGGGGAGAGGGAGGTGGAGACCCTCCGGGAGGGCCAGAGGCAGCACCTCCTGGAATCACCCAG
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Task1_train_10161
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This variant affects gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) located on Chromosome 6. Evaluate its biological effect and specify any disease association.
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Pathogenic; not provided
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GCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTGGGAGAGGAGAGCAGGGGCCAGTCCTTTTCCAAGCCTTAGGCCCTGGCTGCCCACCCAGCCCCCGGCCCCGGGCCCGTGCGTCCAGGTACCCGTGGTGAAAGAGGTGGACACGGGCGGCAGGAGGCTCTGGCCCCACATGGCCTGGAGCCGTGCATTGTAGGAGGTGGAGGGAAAGAGGCCAAGGAGCTGGTGAGATGTGATCCCTCCTGGGAGCAGGATCTCCTGTGGGACAGACAAGGGGGGGTCAGGGGAGAGGGAGGTGGAGACCCTCCGGGAGGGCCAGAGGCAGCACCTCCTGGAATCACCCAGGGAGGGGAGTTGGGTCAGTGGGGCCGGGGCACCTGGTTCTGTCCACCAGGGGTG
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GCTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCTGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTGGGAGAGGAGAGCAGGGGCCAGTCCTTTTCCAAGCCTTAGGCCCTGGCTGCCCACCCAGCCCCCGGCCCCGGGCCCGTGCGTCCAGGTACCCGTGGTGAAAGAGGTGGACACGGGCGGCAGGAGGCTCTGGCCCCACATGGCCTGGAGCCGTGCATTGTAGGAGGTGGAGGGAAAGAGGCCAAGGAGCTGGTGAGATGTGATCCCTCCTGGGAGCAGGATCTCCTGTGGGACAGACAAGGGGGGGTCAGGGGAGAGGGAGGTGGAGACCCTCCGGGAGGGCCAGAGGCAGCACCTCCTGGAATCACCCAGGGAGGGGAGTTGGGTCAGTGGGGCCGGGGCACCTGGTTCTGTCCACCAGGGGTG
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Task1_train_10162
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Here is a mutation in CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; CYP21A2-related disorder
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CTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTGGGAGAGGAGAGCAGGGGCCAGTCCTTTTCCAAGCCTTAGGCCCTGGCTGCCCACCCAGCCCCCGGCCCCGGGCCCGTGCGTCCAGGTACCCGTGGTGAAAGAGGTGGACACGGGCGGCAGGAGGCTCTGGCCCCACATGGCCTGGAGCCGTGCATTGTAGGAGGTGGAGGGAAAGAGGCCAAGGAGCTGGTGAGATGTGATCCCTCCTGGGAGCAGGATCTCCTGTGGGACAGACAAGGGGGGGTCAGGGGAGAGGGAGGTGGAGACCCTCCGGGAGGGCCAGAGGCAGCACCTCCTGGAATCACCCAGGGAGGGGAGTTGGGTCAGTGGGGCCGGGGCACCTGGTTCTGTCCACCAGGGGTGT
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CTGCCCAGGCTGGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCACGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTGGGAGAGGAGAGCAGGGGCCAGTCCTTTTCCAAGCCTTAGGCCCTGGCTGCCCACCCAGCCCCCGGCCCCGGGCCCGTGCGTCCAGGTACCCGTGGTGAAAGAGGTGGACACGGGCGGCAGGAGGCTCTGGCCCCACATGGCCTGGAGCCGTGCATTGTAGGAGGTGGAGGGAAAGAGGCCAAGGAGCTGGTGAGATGTGATCCCTCCTGGGAGCAGGATCTCCTGTGGGACAGACAAGGGGGGGTCAGGGGAGAGGGAGGTGGAGACCCTCCGGGAGGGCCAGAGGCAGCACCTCCTGGAATCACCCAGGGAGGGGAGTTGGGTCAGTGGGGCCGGGGCACCTGGTTCTGTCCACCAGGGGTGT
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Task1_train_10163
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Mutation context: Chromosome 6, Gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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GGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTGGGAGAGGAGAGCAGGGGCCAGTCCTTTTCCAAGCCTTAGGCCCTGGCTGCCCACCCAGCCCCCGGCCCCGGGCCCGTGCGTCCAGGTACCCGTGGTGAAAGAGGTGGACACGGGCGGCAGGAGGCTCTGGCCCCACATGGCCTGGAGCCGTGCATTGTAGGAGGTGGAGGGAAAGAGGCCAAGGAGCTGGTGAGATGTGATCCCTCCTGGGAGCAGGATCTCCTGTGGGACAGACAAGGGGGGGTCAGGGGAGAGGGAGGTGGAGACCCTCCGGGAGGGCCAGAGGCAGCACCTCCTGGAATCACCCAGGGAGGGGAGTTGGGTCAGTGGGGCCGGGGCACCTGGTTCTGTCCACCAGGGGTGTGGAAGCTGAGC
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GGTCTTAAATTCCTAGTCTCAAATGATCCTCCCACCTCAGCCTCAAGTGTGAGCCACCTTTGGGGCATCCCCAATCCAGGTCCCTGGAAGCTCTTGGGGGGGCATATCTGGTGGGGAGAAAGCAGGGGTTGGGGAGGCCGAAGAAGGTCAGGCCCTCAGCTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGAGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTGGGAGAGGAGAGCAGGGGCCAGTCCTTTTCCAAGCCTTAGGCCCTGGCTGCCCACCCAGCCCCCGGCCCCGGGCCCGTGCGTCCAGGTACCCGTGGTGAAAGAGGTGGACACGGGCGGCAGGAGGCTCTGGCCCCACATGGCCTGGAGCCGTGCATTGTAGGAGGTGGAGGGAAAGAGGCCAAGGAGCTGGTGAGATGTGATCCCTCCTGGGAGCAGGATCTCCTGTGGGACAGACAAGGGGGGGTCAGGGGAGAGGGAGGTGGAGACCCTCCGGGAGGGCCAGAGGCAGCACCTCCTGGAATCACCCAGGGAGGGGAGTTGGGTCAGTGGGGCCGGGGCACCTGGTTCTGTCCACCAGGGGTGTGGAAGCTGAGC
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Task1_train_10164
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A variant affecting Chromosome 6, within the gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; not provided
|
CTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTGGGAGAGGAGAGCAGGGGCCAGTCCTTTTCCAAGCCTTAGGCCCTGGCTGCCCACCCAGCCCCCGGCCCCGGGCCCGTGCGTCCAGGTACCCGTGGTGAAAGAGGTGGACACGGGCGGCAGGAGGCTCTGGCCCCACATGGCCTGGAGCCGTGCATTGTAGGAGGTGGAGGGAAAGAGGCCAAGGAGCTGGTGAGATGTGATCCCTCCTGGGAGCAGGATCTCCTGTGGGACAGACAAGGGGGGGTCAGGGGAGAGGGAGGTGGAGACCCTCCGGGAGGGCCAGAGGCAGCACCTCCTGGAATCACCCAGGGAGGGGAGTTGGGTCAGTGGGGCCGGGGCACCTGGTTCTGTCCACCAGGGGTGTGGAAGCTGAGCAGGTAGCCTGCGGGCCGGACTGGGGGCTCAGTCCAAGTGAGCAGGGCGGTGCGGGGGGTCACTTCCTTGGCCTCCAAGTCCCGAGGGGCCTCTAGCCCTAGGAGGGAAAGCAGGAAGAGGAGATGGGGATGAGGCCCAACCTGGCTCCCTCTACCTCCT
|
CTGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCTGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTGGGAGAGGAGAGCAGGGGCCAGTCCTTTTCCAAGCCTTAGGCCCTGGCTGCCCACCCAGCCCCCGGCCCCGGGCCCGTGCGTCCAGGTACCCGTGGTGAAAGAGGTGGACACGGGCGGCAGGAGGCTCTGGCCCCACATGGCCTGGAGCCGTGCATTGTAGGAGGTGGAGGGAAAGAGGCCAAGGAGCTGGTGAGATGTGATCCCTCCTGGGAGCAGGATCTCCTGTGGGACAGACAAGGGGGGGTCAGGGGAGAGGGAGGTGGAGACCCTCCGGGAGGGCCAGAGGCAGCACCTCCTGGAATCACCCAGGGAGGGGAGTTGGGTCAGTGGGGCCGGGGCACCTGGTTCTGTCCACCAGGGGTGTGGAAGCTGAGCAGGTAGCCTGCGGGCCGGACTGGGGGCTCAGTCCAAGTGAGCAGGGCGGTGCGGGGGGTCACTTCCTTGGCCTCCAAGTCCCGAGGGGCCTCTAGCCCTAGGAGGGAAAGCAGGAAGAGGAGATGGGGATGAGGCCCAACCTGGCTCCCTCTACCTCCT
|
Task1_train_10165
|
A variant on Chromosome 6 in gene CYP21A2, LOC106780800 (cytochrome P450 family 21 subfamily A member 2| CYP21A2 recombination region) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; not provided
|
TGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTGGGAGAGGAGAGCAGGGGCCAGTCCTTTTCCAAGCCTTAGGCCCTGGCTGCCCACCCAGCCCCCGGCCCCGGGCCCGTGCGTCCAGGTACCCGTGGTGAAAGAGGTGGACACGGGCGGCAGGAGGCTCTGGCCCCACATGGCCTGGAGCCGTGCATTGTAGGAGGTGGAGGGAAAGAGGCCAAGGAGCTGGTGAGATGTGATCCCTCCTGGGAGCAGGATCTCCTGTGGGACAGACAAGGGGGGGTCAGGGGAGAGGGAGGTGGAGACCCTCCGGGAGGGCCAGAGGCAGCACCTCCTGGAATCACCCAGGGAGGGGAGTTGGGTCAGTGGGGCCGGGGCACCTGGTTCTGTCCACCAGGGGTGTGGAAGCTGAGCAGGTAGCCTGCGGGCCGGACTGGGGGCTCAGTCCAAGTGAGCAGGGCGGTGCGGGGGGTCACTTCCTTGGCCTCCAAGTCCCGAGGGGCCTCTAGCCCTAGGAGGGAAAGCAGGAAGAGGAGATGGGGATGAGGCCCAACCTGGCTCCCTCTACCTCCTC
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TGCCTTCATCAGTTCCCACCCTCCAGCCCCCACCTCCTCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCACAAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTGGAGCAGCTGACCCAGGAGTTCTGTGAGGTAAGGCTGGGCTCCTGAGGCCACCTCGGGTCAGCCTCGCCTCTCACAGTAGCCCCCGCCCTGCCCGCTGCACAGCGGCCTGCTGAACTCACACTGTTTCTCCACAGCGCATGAGAGCCCAGCCCGGCACCCCTGTGGCCATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGACAAGATCAAGGTGCCTCACAGCCCCTCAGGCCCACCCCCAGCCCCTCCCTGAGCCTCTCCTTGTCCTGAACTGAAAGTACTCCCTCCTTTTCTGGCAGGACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAAACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGGGTGAGGACCTGGAGCCTAGACACCCCTGGGTTGTAGGGGAGAGGCTGGGGTGGAGGGAGAGGCTCCTTCCCACAGCTGCATTCTCATGCTTCCTGCCGCAGTTCTTCCCCAATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATGCAGCTGAGGCAGCACAAGGTGGGGACTGTACGTGGACGGCCTCCCCTCGGCCCACAGCCAGTGATGCTACCGGCCTCAGCATTGCTATGAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCCGCTCAGCCCGCTCCTTTCACCCTCTGCAGGAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTACATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGGCACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACCCTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAGGTGCGTCCTGGGGACAAGCAAAAGGCTCCTTCCCAGCAACCTGGCCAGGGCGGTGGGCACCCTCACTCAGCTCTGAGCACTGTGCGGCTGGGGCTGTGCTTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCAGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTGGGAGAGGAGAGCAGGGGCCAGTCCTTTTCCAAGCCTTAGGCCCTGGCTGCCCACCCAGCCCCCGGCCCCGGGCCCGTGCGTCCAGGTACCCGTGGTGAAAGAGGTGGACACGGGCGGCAGGAGGCTCTGGCCCCACATGGCCTGGAGCCGTGCATTGTAGGAGGTGGAGGGAAAGAGGCCAAGGAGCTGGTGAGATGTGATCCCTCCTGGGAGCAGGATCTCCTGTGGGACAGACAAGGGGGGGTCAGGGGAGAGGGAGGTGGAGACCCTCCGGGAGGGCCAGAGGCAGCACCTCCTGGAATCACCCAGGGAGGGGAGTTGGGTCAGTGGGGCCGGGGCACCTGGTTCTGTCCACCAGGGGTGTGGAAGCTGAGCAGGTAGCCTGCGGGCCGGACTGGGGGCTCAGTCCAAGTGAGCAGGGCGGTGCGGGGGGTCACTTCCTTGGCCTCCAAGTCCCGAGGGGCCTCTAGCCCTAGGAGGGAAAGCAGGAAGAGGAGATGGGGATGAGGCCCAACCTGGCTCCCTCTACCTCCTC
|
Task1_train_10166
|
A change on Chromosome 6 affects gene LOC106780803, TNXB (tenascin XB recombination region| tenascin XB). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Ehlers-Danlos syndrome due to tenascin-X deficiency
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TTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCGCTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTGGGAGAGGAGAGCAGGGGCCAGTCCTTTTCCAAGCCTTAGGCCCTGGCTGCCCACCCAGCCCCCGGCCCCGGGCCCGTGCGTCCAGGTACCCGTGGTGAAAGAGGTGGACACGGGCGGCAGGAGGCTCTGGCCCCACATGGCCTGGAGCCGTGCATTGTAGGAGGTGGAGGGAAAGAGGCCAAGGAGCTGGTGAGATGTGATCCCTCCTGGGAGCAGGATCTCCTGTGGGACAGACAAGGGGGGGTCAGGGGAGAGGGAGGTGGAGACCCTCCGGGAGGGCCAGAGGCAGCACCTCCTGGAATCACCCAGGGAGGGGAGTTGGGTCAGTGGGGCCGGGGCACCTGGTTCTGTCCACCAGGGGTGTGGAAGCTGAGCAGGTAGCCTGCGGGCCGGACTGGGGGCTCAGTCCAAGTGAGCAGGGCGGTGCGGGGGGTCACTTCCTTGGCCTCCAAGTCCCGAGGGGCCTCTAGCCCTAGGAGGGAAAGCAGGAAGAGGAGATGGGGATGAGGCCCAACCTGGCTCCCTCTACCTCCTCTCCCTGTCCCACACACCCCACAGACCCTACCTGTGGTGAAGGTGATGCTGGCTGGGGAAGTGAGGTTGGGGCCCCGCAGGCCACGCACTGTGGCGGTGTAGTTGGTGTGGAGGACAAGGTCATGCAGGGGGTAGTCCACCGCGCTGCCTGGGGTCTCCGCCTGCAGAGGCGGGGCTGGGAGTGTAGAGAGGGGCATCAAGGCCTGCCCCCTCCATCCTCGGCCAGAGTCCAGCCTCCCCCCTGCAATCCCCACCCTGAACAAGTCCCCTCCAGAGGCCTCAGGCCTGCTCACCCCCAGGGGCTGTGACCTGGACGTCATAGGTGTCCACAGGATTCTGGGGGGGCTTCCAGTGCAGCACGGCGAATCCCTCGGTCAAGTTCAGTGCACGCAACTGTGTGGGACCGTCAGGAACTGGGGGAAGGGGAGGGGCTCAGAAGGGTCCCCGCGGCTCTCTCTACTCCGTGCCTCCCCAGACTCCACTGGCCTCCCGTCCGCAATCGGAGCCTCCACCACCTCCCTTTCACCCTCCTCGTTCTCTCTCAACTCCCACCCATGCCGTTTTCTTGGCTCCCACCTCTTGCCCCGGGTCCCAGTCCATCTCACCCGTGGTGAGGAAGCCTGTGAGAGGCTCACTCTCCTCAAAGCCTCGGACCGAGACCACGGTCACCTCATAGCGAGCGCCTGGGATCAGCCCCTGGAGTTTCTGGGTCCGGGCCTGGCCATCCACCTGCACACTCTGAGGCTCCCCTGAAAACATTGGGGATCGAGGGTTACCCAGGGAACCCCAGGGCAGCTGGAGGGTGGGCAGAGTGCAGGGGGGAGAGGAAATGCGAGGCGATGAGCACATGGCAAAGGCACCACCTCCGTCCGCCAGCTGGTAGGAGACTTTGAAGCTGTCCGCCCGGGATGGTGGGGGCATCCAGTTGACCTTGGCTGAGGTCTCCCTGATTTCACTGAATTGGAGGTCACGGGGGCTCTCCAGAACTGCAGAGGGGTCAAGGAACAATGACGCAGGCAGGGGCAGGGAGGCTTCTCCCTACGAGTCCCCCCCTCGCCTCTGCTCCAGCACAGGCTCACCACCCCTTTTCCTCTAGTCCCCAGGAATGGAAGTCGCTCTGCAGATTCCTCCAGGCCCACCACCAACTCGCCCACCCCCACCGCTGGCTGAGGCACTAGGTCCCCCCCGTGAAGTACAAAGACCCCCACTTTGGGGCAGAGTGTGTGTGGGTCCTTACCTGGGCTGAGGGTGCGGGCG
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TTGCCTCACCGGCACTCAGGCTCACTGGGTTGCTGAGGGAGCGGCTGGAGGCTGGGCAGCTGTGGGCTGCTGGGGCAGGACTCCACCCGATCATTCCCCAGATTCAGCAGCGACTGCAGGAGGAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGTGCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTGCCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAGGTGACTCCCGAGGGTTGGGGATGAGTGAGGAAAGCCCGAGCCCAGGGAGGTCCTGGCCAGCCTCTAACTCCAGCCCCCTTCAGCATCTCCGGCTACGACATCCCTGAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAGAGGCCACATGAGTTCTGGCCTGGTATGTGGGGGGCCGGGGGCCTGCCGTGAAAATGTGGTGGAGGCTGGTCCCCGCTGCCGCTGAACGCCTCCCCACCCACCTGTCCACCCGCCCGCAGATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTGGCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTCGTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCCTCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGGCTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGATGGGGCAGGACCGATGCCAGCCGGGTACCTCAGTTTCTCCTTTATTGCTCCCGTACGAACCCCTCCCCTCCCCCCTGTAAACACAGTGCTGCGAGATCGCTGGCAGAGAAGGCTTCCTCCAGCGGCTGGGTGGTGAAGGACCCTGGCTCTTCTCTCGGGGCGACCCCTCAGTGCTCGGCAGTCATACTGGGGTGCGAGAGAGGTGGGCAGCAGCTCAGCCTCCCCCCGCTGGGGAGCGAAAGTTTCTTGGTCTCAGCTTCATTTCCGTGAAGGGCACCGAGAACTCGAAGCCCTTCCAGTGGTACCAGCTCACTCCCTGGGAAAGGGGTTGTCAAGAGAGAGTCAAAGCCGGATGTCCCATCTGCTCTTCCCGTTCCCCTTAAGGAGGTAGCTCCCAGCACTCAACCAACCTCCCCGCAGAGCTCCCTTCCTGACCCTCCGCTGCAGAGGATTGAGGCTTAATTCTGAGCTGGCCCTTTCCAGCCAATAAATCAACTCCAGCTCCCTCTGCGAGGCTGGCATGATTGTTCCATTTCACCCAGCCACTCAGTCCCTTGCCTGTTACACTGTGGGGCTGAAACCTAGGCAGGCCGAGCCCCAGCCACCCCAGCTCTGAGCCGCCTCCCCACCCCTCACCTGATGGTCCACTGTGCTCCCGTAGAGCCCGTTGAGGTTGGCGTAGTGGCAGTTCCTGTACCACCAGGCCCCTCGGTAGGAGACAGCGCAGGAGATGAGCAAGCTGTTGGGGTCCCGATCACGGGCAGAGAAGACACTGCCGCTGTGGTAGCTCATGGAGTCCCCTGGGCAGGGTGGAGGAAGGAGCCATGAGGGCCTCCCCTCCCAGCCTCACCCTCCCAGCCTCACAGCCTCTGCTTACCTGCGGTGCCGTGGTAGCCCTCCAAGTGGAGGCGGTAGTACTCCGCAGCCGAGTCTACGTGGAAGGAGTCGTACTGGGCGAACACAGCCTCGTCCCCAGCCCGCAGGTCCACGCGCATGGAGTAGTCACCTGCCTGTGTCAGGCTGTGCAGGGCCTCATTGCCTGGGGGTGGGATACGTGCCCTCATCAGGGTCCTGGTGTCCACAGGGCCCCCATCCCCATCCGTAGTTCCCCAGTCCCTGTGAGGCACTGACCCAGCCAGAACTCTCCAGAGATGTTCCCAAAACCATGGGCATAGTCCTCCCAGTCCCTCCAGAAGTCTGTCTGTCCATCCATGCGGCACTGGAACACCTGGGAAGCAAGTGGGGGCACCATCAGCCTCTGGCTCCCGGGGCAACAGACCCTGCCCTGCACAGACCCCTGGGCTTCCCAATGCCACCCACCAGCCAGCCGCCCCCATCAGTCTCCATGTCGCAAAACACGTTCAGGGGCCGCTCGCGGTTGCCGTTGAGGAAGATGGTGCTGGTCCTGGAGGCACCGGCTCCGTTCTGCATCTCCTCCCCGCAGTCCCTGGGGAAGGGGATCCGCAGCCCACCTGGGAGAGGAGAGCAGGGGCCAGTCCTTTTCCAAGCCTTAGGCCCTGGCTGCCCACCCAGCCCCCGGCCCCGGGCCCGTGCGTCCAGGTACCCGTGGTGAAAGAGGTGGACACGGGCGGCAGGAGGCTCTGGCCCCACATGGCCTGGAGCCGTGCATTGTAGGAGGTGGAGGGAAAGAGGCCAAGGAGCTGGTGAGATGTGATCCCTCCTGGGAGCAGGATCTCCTGTGGGACAGACAAGGGGGGGTCAGGGGAGAGGGAGGTGGAGACCCTCCGGGAGGGCCAGAGGCAGCACCTCCTGGAATCACCCAGGGAGGGGAGTTGGGTCAGTGGGGCCGGGGCACCTGGTTCTGTCCACCAGGGGTGTGGAAGCTGAGCAGGTAGCCTGCGGGCCGGACTGGGGGCTCAGTCCAAGTGAGCAGGGCGGTGCGGGGGGTCACTTCCTTGGCCTCCAAGTCCCGAGGGGCCTCTAGCCCTAGGAGGGAAAGCAGGAAGAGGAGATGGGGATGAGGCCCAACCTGGCTCCCTCTACCTCCTCTCCCTGTCCCACACACCCCACAGACCCTACCTGTGGTGAAGGTGATGCTGGCTGGGGAAGTGAGGTTGGGGCCCCGCAGGCCACGCACTGTGGCGGTGTAGTTGGTGTGGAGGACAAGGTCATGCAGGGGGTAGTCCACCGCGCTGCCTGGGGTCTCCGCCTGCAGAGGCGGGGCTGGGAGTGTAGAGAGGGGCATCAAGGCCTGCCCCCTCCATCCTCGGCCAGAGTCCAGCCTCCCCCCTGCAATCCCCACCCTGAACAAGTCCCCTCCAGAGGCCTCAGGCCTGCTCACCCCCAGGGGCTGTGACCTGGACGTCATAGGTGTCCACAGGATTCTGGGGGGGCTTCCAGTGCAGCACGGCGAATCCCTCGGTCAAGTTCAGTGCACGCAACTGTGTGGGACCGTCAGGAACTGGGGGAAGGGGAGGGGCTCAGAAGGGTCCCCGCGGCTCTCTCTACTCCGTGCCTCCCCAGACTCCACTGGCCTCCCGTCCGCAATCGGAGCCTCCACCACCTCCCTTTCACCCTCCTCGTTCTCTCTCAACTCCCACCCATGCCGTTTTCTTGGCTCCCACCTCTTGCCCCGGGTCCCAGTCCATCTCACCCGTGGTGAGGAAGCCTGTGAGAGGCTCACTCTCCTCAAAGCCTCGGACCGAGACCACGGTCACCTCATAGCGAGCGCCTGGGATCAGCCCCTGGAGTTTCTGGGTCCGGGCCTGGCCATCCACCTGCACACTCTGAGGCTCCCCTGAAAACATTGGGGATCGAGGGTTACCCAGGGAACCCCAGGGCAGCTGGAGGGTGGGCAGAGTGCAGGGGGGAGAGGAAATGCGAGGCGATGAGCACATGGCAAAGGCACCACCTCCGTCCGCCAGCTGGTAGGAGACTTTGAAGCTGTCCGCCCGGGATGGTGGGGGCATCCAGTTGACCTTGGCTGAGGTCTCCCTGATTTCACTGAATTGGAGGTCACGGGGGCTCTCCAGAACTGCAGAGGGGTCAAGGAACAATGACGCAGGCAGGGGCAGGGAGGCTTCTCCCTACGAGTCCCCCCCTCGCCTCTGCTCCAGCACAGGCTCACCACCCCTTTTCCTCTAGTCCCCAGGAATGGAAGTCGCTCTGCAGATTCCTCCAGGCCCACCACCAACTCGCCCACCCCCACCGCTGGCTGAGGCACTAGGTCCCCCCCGTGAAGTACAAAGACCCCCACTTTGGGGCAGAGTGTGTGTGGGTCCTTACCTGGGCTGAGGGTGCGGGCG
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Task1_train_10167
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A variant has been detected on Chromosome 6 in TNXB (tenascin XB). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Vesicoureteral reflux 8
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AGAAGAGATAGAGGCATAAAGGGCTGCTGGCTTTGCTGCTGCTGCCCACAGATGACAGCCATGGAAATGCCCTTACGCTGTGGGCTCAGGGGCTCTGTAGCCTTTGTATTTGCCATTCGGTCACTCACGGATGGAGAAGGCTGAGACAGCCCTTGCCCCATCCTGCTCTGGTGGGTTCTGTGGGGGTGAGGGGTCTCCCTTCGTGTCTGAGAAAGGAGCTGAGATGGGAAGAGAGGAAGCCTCTGAGGGTTCTTCCAAACCACGTTCACTGACAGTGCTGACCTCAGACAGTGAGGAGGGCAGTGAGGCCTCTTCCTACCTGTGCCCTCCCCAGGGCACTCTGGCTGCCCCACCCCTCATATGAGGATCTGACCATGGAATGTGCTCTTGCTGTGGCCTCCCCAGGCAGCCCTGCCCCTCCCTCCCCTTTAACCCCAAGGAATGAATTGCTAAGGCAGGGCTCCAGGCATGAGTGGGAGAAAAATTCTGGGGTGAGTGGGATCCAAGGAGAGACATGTCCTTCCCTGGCTGGCTCTGGAATCACAGCCCTGTGGGCACCTACCCGCCCCCTACAGTTAGGTCTCTGCTGAGGCTCCATGGAGTGGGGAGACTGTGGCACAAGGGAAACCAGCCCTTCTGTGACCTGCTACATGGGGGACTACTTTGGGATAGCAGATTGAGGAAAGAATTGGCAAGAATGACAACCCAGAGGAAGGGAGGGAGGTGGGGAGCAAAAAAGATTACTGGGAAGTGAGAGAGTCAGGGAGAAATTGCAGCTCACTCTGAAAATGCTTTGCTGCTCCAAGCACTATTCTAAGTGTGTGGGCTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCATCCTCTTGAGTAGCTGGGACTACAGGCACCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTGGAGACACGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTTCTAAGTGTTATACATATATTAACTCATGTAATTCCAACAGCTCTGTGCAGAGGGACTGAAATCCAGCCACCTGACAGAAGGGAAAGCTGAGGCACAGAGAGGTTAAGCAATTTGCACAAGGTCCTACAGGAAGTAAGTTGCAAGGCTGGTAGTGAGACTCGGGCAGTTGGCTCCGGAGTCTTTGCTCCTAACCACTATCCACACTATCTCTCATCAAATAATTCACAGGCCAGGGGAATGGCACTGGACAGGGAAAGGCTGGGGACATGGAGGAACAGGCTGGGATGCTGGGCTGAACACAATCCCTTTGCCCTGTTCCAAGGGGGCTGGGAGTCAAGGAGTCGGGAGCTGAGAGGAGTCCTCTTCATGCTGCAAAAAGGCTAGAGAAACGTGGTGCTCTTGTCACTTGGATCTGCCACCTCTGAACACAGCAGAAATGGCAGGAGGTTGTGGGCAGCAGGTGACAGAAGCCCAGAAGTGACCATGGCCCAAACCAGACCATGAAGGAGCCCAGTAAAAACTGAGGGGTGAGAACACAGTGACCGAATGGTGAGGACATCTGTGGGGAGGACAGCCCCAGGTGGAAGGATGAGTCCAGGTGTTTGGAATGGGGGAAAATAGGACCTGCCCTTGGAGATGAAGAAGTGAGGCTGAGGAAGAGATGAGGAGGTGGAGGCTGGATGAGGGGGACCTGGCATGCAGAGGACAGGAGAGCAGTGCGGGAGGAAGTGGGTGGAGGCTTTGGCAAAATGAGCTGAGAAGGCGAAGATGGAGGGAGGCTGGAAGGAGCCCCAGCCAAGTCCCGCTCACAGGATGGGGCTAGCAGGGGAGGGAGGCCTGGCAGCCATGACTCACCAGTCTTGGCCACCACAGACTCGGGCCCCACACGCTGCCTGCCACGAAGCCCGTAGAGGTTCATCTTATACTTCCGGTCGGGATCCAGGCCGGGGACAGTAACCTCATTCTCATCCCCCGCAACAGGCACTGCCTGGGGCTGCCCCTGTGCATCCTTGTACTGGACCATGAATGAGTCGAAGGGGCCCTGGGCCACTGTCCATGAGAGACGCAAGGAGTCTGGGGTCACGCCGGTCACTGTCAGTTCCCCCAGGAGGGGCTGCTCCAGGAACTCAGGGCGGGGGGGCTCCTCTTTCCTCTCTGGAGCTGTAAACAAGGAGATCCAGCCAGGTGCTGAACTGGCAGCCTGGGACTGGGGCTTGGGGTTTCGACGGGATGTCACACCTATGGGGGGTGGGGGGTCACTAGTCCATTAATTCGAGTGCTAAACTTCTGGGAAGCCTGACACAGCCAGGGTATGACACACCTTCTGGGCCACGGGGAGCTGCTGCTTGGGATGGAAGGGGCCCAGCAGTGCGGGGGAGTCTGGCTGCCCCTCAGCCCTGGAGTGGGGCCGGGAAGCTGGAGTCAGCTGTCTTGCTGGGGGACCCCAGCTGGTTTTGGGCTGAAGGGAAGTGTGCATGGGGCTGAGAAGGGGTCACATGGGGGCTGAGGTGGCTGCTACTCACCAGTGGTGCCATCGGCCGTGAGGGGGCCATACCGCTTCTTGTTCGCAATTCCAAACAGAGTGAATCTGTACTTGTGGTCAGGGTCCAGTGAGGAGACAACAAATGAACGCTCGGGCCCTTCCACAGGTACCACCTGGGGCCGTCCATCCCTGTCCCTGTACTGGACCATGAAGGTGTCAAACTGGCCCTCAGGGACAGTCCAGGAGAGGTGCAGTGAATCTGGGGTAGGGTCTGTCACCCACAGGTTTCCCAGGTGGGGTGGAGTCCCTGGACTTGGGTCACTCTGAGGCACTAGGAAGAGTGGGTAGAGAGAAGGGAGAGACTTAGGTCCAAGGAGAATGGGGAAGCCAAATCCCACATAGGAATGCTGTGTGAGGCTGTGCAGGTTGTTCACTGCACAAAAGTGCATTTGCTGAGGGAGTACAGAGGGACTGAAATCCAGCCAGCACTCTGCTTGCCGAGCTGTGTGCCCTGGTGAGGAGTGGTGTCCACTTTAAGGAATGGGTGCCTTCTTTCAAACGGCATGGAAGCACTGCGTGGACTAGTGTGGCTCTGCCTCCAACCACAAACCAGAGCAGCAGGGAGCTTCAGAAAGAGGGGAGCCCAGCCAGGCCCTTTCACATCTCCATAGCCAGGGAAATCTTCCCAGTACAACCTCCACTGCTTCCAAGCCTAACTACTAGCTGGCTTCTTCTCCAAGAGAGGAGAGCACAATCCTTGAAGCGTTTTAACGTGGGACAGCCTCCCTCATCTATGCTGCAGGCCTCTCCTCCTCTTTGGGAACTTTGACCCATGGATGGACTCCCTCGCCTGCAGCACTGACCCTTCACTCCCCAGCAGCTGTGCCATCAGCATTTCAACAAGCTACTGTCACACCCCTCCTCACCCCCACTCTGTGTGCATCTCTCTCTAGCCTCCATCTTCCCTCTTTGCTCTCATTCCCAGCCCAGATTCCAGAAAGTGATGTCTACACTGATTGCAGCCATGTCCTCACCTCCACCACCCTCCCGATCCAGCTCCACCCCTCCACCAGGCAGCAGCTCTCATGCAGGCCAGGGGTGGCCTTGCCATTGCTAAATTCTGTGGACGCTCCGTAGCCCTTGAATCACTGTTCCGGAATCTGACAAGTCCAACCGCACCCTCCTTCCTGGAGTCCAGACAGCACCCTCCCTGGTTCTGCCCCTCCCTGCAAGTCACTCCGCAAGCTACCCTGTGGGCTCTTCTTCCTCTGCCTCCGCTGTGAGTGTAGGCTGTCGACAGGGTTCCAGTGGCCCTGTCTCTTCCCCAACCCCACACGACTACTCTGGTGCCTCAATTCTCCTGACCTATAAAGTAGGCATGCCTCCCAGGTGTGCTTTATGGGGTGTGATGATCCACTTAGAGAACATCTTGATCACAACTGACTCTCAATAAATGCACAAAAGGTATTTA
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AGAAGAGATAGAGGCATAAAGGGCTGCTGGCTTTGCTGCTGCTGCCCACAGATGACAGCCATGGAAATGCCCTTACGCTGTGGGCTCAGGGGCTCTGTAGCCTTTGTATTTGCCATTCGGTCACTCACGGATGGAGAAGGCTGAGACAGCCCTTGCCCCATCCTGCTCTGGTGGGTTCTGTGGGGGTGAGGGGTCTCCCTTCGTGTCTGAGAAAGGAGCTGAGATGGGAAGAGAGGAAGCCTCTGAGGGTTCTTCCAAACCACGTTCACTGACAGTGCTGACCTCAGACAGTGAGGAGGGCAGTGAGGCCTCTTCCTACCTGTGCCCTCCCCAGGGCACTCTGGCTGCCCCACCCCTCATATGAGGATCTGACCATGGAATGTGCTCTTGCTGTGGCCTCCCCAGGCAGCCCTGCCCCTCCCTCCCCTTTAACCCCAAGGAATGAATTGCTAAGGCAGGGCTCCAGGCATGAGTGGGAGAAAAATTCTGGGGTGAGTGGGATCCAAGGAGAGACATGTCCTTCCCTGGCTGGCTCTGGAATCACAGCCCTGTGGGCACCTACCCGCCCCCTACAGTTAGGTCTCTGCTGAGGCTCCATGGAGTGGGGAGACTGTGGCACAAGGGAAACCAGCCCTTCTGTGACCTGCTACATGGGGGACTACTTTGGGATAGCAGATTGAGGAAAGAATTGGCAAGAATGACAACCCAGAGGAAGGGAGGGAGGTGGGGAGCAAAAAAGATTACTGGGAAGTGAGAGAGTCAGGGAGAAATTGCAGCTCACTCTGAAAATGCTTTGCTGCTCCAAGCACTATTCTAAGTGTGTGGGCTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCATCCTCTTGAGTAGCTGGGACTACAGGCACCTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTGGAGACACGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTTCTAAGTGTTATACATATATTAACTCATGTAATTCCAACAGCTCTGTGCAGAGGGACTGAAATCCAGCCACCTGACAGAAGGGAAAGCTGAGGCACAGAGAGGTTAAGCAATTTGCACAAGGTCCTACAGGAAGTAAGTTGCAAGGCTGGTAGTGAGACTCGGGCAGTTGGCTCCGGAGTCTTTGCTCCTAACCACTATCCACACTATCTCTCATCAAATAATTCACAGGCCAGGGGAATGGCACTGGACAGGGAAAGGCTGGGGACATGGAGGAACAGGCTGGGATGCTGGGCTGAACACAATCCCTTTGCCCTGTTCCAAGGGGGCTGGGAGTCAAGGAGTCGGGAGCTGAGAGGAGTCCTCTTCATGCTGCAAAAAGGCTAGAGAAACGTGGTGCTCTTGTCACTTGGATCTGCCACCTCTGAACACAGCAGAAATGGCAGGAGGTTGTGGGCAGCAGGTGACAGAAGCCCAGAAGTGACCATGGCCCAAACCAGACCATGAAGGAGCCCAGTAAAAACTGAGGGGTGAGAACACAGTGACCGAATGGTGAGGACATCTGTGGGGAGGACAGCCCCAGGTGGAAGGATGAGTCCAGGTGTTTGGAATGGGGGAAAATAGGACCTGCCCTTGGAGATGAAGAAGTGAGGCTGAGGAAGAGATGAGGAGGTGGAGGCTGGATGAGGGGGACCTGGCATGCAGAGGACAGGAGAGCAGTGCGGGAGGAAGTGGGTGGAGGCTTTGGCAAAATGAGCTGAGAAGGCGAAGATGGAGGGAGGCTGGAAGGAGCCCCAGCCAAGTCCCGCTCACAGGATGGGGCTAGCAGGGGAGGGAGGCCTGGCAGCCATGACTCACCAGTCTTGGCCACCACAGACTCGGGCCCCACACGCTGCCTGCCACGAAGCCTGTAGAGGTTCATCTTATACTTCCGGTCGGGATCCAGGCCGGGGACAGTAACCTCATTCTCATCCCCCGCAACAGGCACTGCCTGGGGCTGCCCCTGTGCATCCTTGTACTGGACCATGAATGAGTCGAAGGGGCCCTGGGCCACTGTCCATGAGAGACGCAAGGAGTCTGGGGTCACGCCGGTCACTGTCAGTTCCCCCAGGAGGGGCTGCTCCAGGAACTCAGGGCGGGGGGGCTCCTCTTTCCTCTCTGGAGCTGTAAACAAGGAGATCCAGCCAGGTGCTGAACTGGCAGCCTGGGACTGGGGCTTGGGGTTTCGACGGGATGTCACACCTATGGGGGGTGGGGGGTCACTAGTCCATTAATTCGAGTGCTAAACTTCTGGGAAGCCTGACACAGCCAGGGTATGACACACCTTCTGGGCCACGGGGAGCTGCTGCTTGGGATGGAAGGGGCCCAGCAGTGCGGGGGAGTCTGGCTGCCCCTCAGCCCTGGAGTGGGGCCGGGAAGCTGGAGTCAGCTGTCTTGCTGGGGGACCCCAGCTGGTTTTGGGCTGAAGGGAAGTGTGCATGGGGCTGAGAAGGGGTCACATGGGGGCTGAGGTGGCTGCTACTCACCAGTGGTGCCATCGGCCGTGAGGGGGCCATACCGCTTCTTGTTCGCAATTCCAAACAGAGTGAATCTGTACTTGTGGTCAGGGTCCAGTGAGGAGACAACAAATGAACGCTCGGGCCCTTCCACAGGTACCACCTGGGGCCGTCCATCCCTGTCCCTGTACTGGACCATGAAGGTGTCAAACTGGCCCTCAGGGACAGTCCAGGAGAGGTGCAGTGAATCTGGGGTAGGGTCTGTCACCCACAGGTTTCCCAGGTGGGGTGGAGTCCCTGGACTTGGGTCACTCTGAGGCACTAGGAAGAGTGGGTAGAGAGAAGGGAGAGACTTAGGTCCAAGGAGAATGGGGAAGCCAAATCCCACATAGGAATGCTGTGTGAGGCTGTGCAGGTTGTTCACTGCACAAAAGTGCATTTGCTGAGGGAGTACAGAGGGACTGAAATCCAGCCAGCACTCTGCTTGCCGAGCTGTGTGCCCTGGTGAGGAGTGGTGTCCACTTTAAGGAATGGGTGCCTTCTTTCAAACGGCATGGAAGCACTGCGTGGACTAGTGTGGCTCTGCCTCCAACCACAAACCAGAGCAGCAGGGAGCTTCAGAAAGAGGGGAGCCCAGCCAGGCCCTTTCACATCTCCATAGCCAGGGAAATCTTCCCAGTACAACCTCCACTGCTTCCAAGCCTAACTACTAGCTGGCTTCTTCTCCAAGAGAGGAGAGCACAATCCTTGAAGCGTTTTAACGTGGGACAGCCTCCCTCATCTATGCTGCAGGCCTCTCCTCCTCTTTGGGAACTTTGACCCATGGATGGACTCCCTCGCCTGCAGCACTGACCCTTCACTCCCCAGCAGCTGTGCCATCAGCATTTCAACAAGCTACTGTCACACCCCTCCTCACCCCCACTCTGTGTGCATCTCTCTCTAGCCTCCATCTTCCCTCTTTGCTCTCATTCCCAGCCCAGATTCCAGAAAGTGATGTCTACACTGATTGCAGCCATGTCCTCACCTCCACCACCCTCCCGATCCAGCTCCACCCCTCCACCAGGCAGCAGCTCTCATGCAGGCCAGGGGTGGCCTTGCCATTGCTAAATTCTGTGGACGCTCCGTAGCCCTTGAATCACTGTTCCGGAATCTGACAAGTCCAACCGCACCCTCCTTCCTGGAGTCCAGACAGCACCCTCCCTGGTTCTGCCCCTCCCTGCAAGTCACTCCGCAAGCTACCCTGTGGGCTCTTCTTCCTCTGCCTCCGCTGTGAGTGTAGGCTGTCGACAGGGTTCCAGTGGCCCTGTCTCTTCCCCAACCCCACACGACTACTCTGGTGCCTCAATTCTCCTGACCTATAAAGTAGGCATGCCTCCCAGGTGTGCTTTATGGGGTGTGATGATCCACTTAGAGAACATCTTGATCACAACTGACTCTCAATAAATGCACAAAAGGTATTTA
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Task1_train_10168
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Mutation context: Chromosome 6, Gene HLA-DRB1 (major histocompatibility complex, class II, DR beta 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Pulmonary artery atresia
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CCTGGAAGAGTTTTTTGATTCTTCTGTGTCTCAACTTTGTCACCTACAATGAAGGATAATTATACTAATTTACCTCTTGGGGTTATATGAGGATTAATGCACGTAAAATATATAAAACAATGACTGAAGATAGCCTTCAGTTTATGAGGTCAGAAAGCTTCTCACTCCATTCCACTGTGAGGGCACTCATCACACTTGAGTGCTCCACTTGGCACCTATTTATCATCCTTGTACACCTTGACAGAAAAATATGATTTAAAGCAATATGCATAGATAAAGGGACAGAGTTGGGTACATGAGGAAACCAAGTATGAATTTTAGGAATACTACTCCCATGCACTCACACCTTAGAACACAACAGAAATTGTTCTGCCCCTGGGAAGGTGGGACAGACAGAAATGATTCTCCAAATTTTTACTTTCCTAGAAAAGCATGAGTCCTGAAGCAGAGAGAAGGATTAGGGAACGTCATTTAAGTTTTGAAAGTTCTTATATTTACATTTAGCTGATCAATGCATCTCCCGTGCAACACAAGCATAATTATTATTAGGCCTATCATTGTAAAATGATTTTTCTTTCCAGAATCACATTTGGATTAAGGCAGTGTCTGGGACTCGTTACTTGGGGTGCTTATGCCCAGGAAAATCCCCGACACTAGCATACTCTCAATAAATACAACTATTTTTTTAGAAGTAAGGAGAAACCTGGAGACAACAATGCCACAAAATGGCAGATTTCAGATGGATTGTAGATCATTAATAAAAATGTTGCAATATATTTTATTAAATAAAAATGTTCAAATTCTTAACATGGAAAAGAATTTTCAAAATCCACATACAAACCACAAACTGGAGCAAATGCTGGATCAAATATCAATAAAGTGTTAATAATCTTATAGTACAAAGAACGCAGAAAGTCACTGAGAAAAATACTAAGCCCTCAAGATATTAGACCGTAGATCATTGTCCATTACCTACCAAATACAATAGGGAATTCTTAGAGCAATAATTATAATCGGCCAATAAATAGGGCAAAATAATTCAAAGGAATTACAAATAAAAAATATAAATTAAAAATTAACCAGAAACACACAATTTCAACTTCTGGTGAATGTCATAATAAAGGTCAACAAACGGGAAAGTGAGGTGAGTTGTGTCACAAATATTATATATAAAAGAATAATATGTAACTACTAGAAAACTACCAGCATTATAATAAAATAGTAACCGTGTCAAAACTTTAATTCAAAAAGTTAGTTTCACAGTCATTTCTACTATGTAAAAATATACACACTGAAAAAAACAAAAAACTAGGAAGAAATTTAGATCTAAAGAAGCTTCAGAGGTGCCTCAGAGGTCTACTCAGTTCCTCTAGAAATTAATCTATTGCTTTTACAAACAAACAGCACACACTTTTAATTCAGAGATTACACGAAGGGTGTATGCCAGGGAGAGTCTGGAACTGGCCTCCTCACATTATCCCAAACCTGCCTTACCCCTCAGCAGTCCTCCCCTAAACCTTCACCCCAACCACACACACCTTACATTTCCCTTCCCTGCATCTCTAAGGACCGAGATAATCAAGGTCTCCTCTCTCTCCAGCCCCCAGCACCCACCTCCCTTGTCACCTCCCCACAGAGGTCTCCAAGGATAAGAAACAGCCCCCTCCTGCCTCCCCTCCCACAACAGACACACAGACACAGACAAATCCACACTTTACACACACACCTGTGCTCTCAGAACTGCTTGCTCCGGACTGAGAGGATTCTAAATGCTCACAGATGGCGCTCTCTCTCTCTCTTCCTCTCTCTGTCTCTCTCTGTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACTCAGATTCCCAGCTCACGGGGACTCAGGCCCCGCCCGCGGCCATGCTCACCTCGCCGCTGCACTGTGAAGCTCTCCACAACCCCGTAGTTGTGTCTGCAGTAGGTGTCCACCGCGGCCCGCGCCTGCTCCAGGATGTCCTTCTGGCTGTTCCAGTACTCAGCGTCAGGCCGCCCCAGCTCCGTCACCGCCCGGAACTCCCCCACGTCGCTGTCGAAGCGCACGGACTCCTCCTGGTTATAGAAGTATCTGTCCAGGAACCGCACCCGCTCCGTCCCATTGAAGAAATGACACTCCCTCTTAGGCTGCCACAGGAAACGTGCTGTGGGGACACGAACCATCCGGTCACAGGGCGGCCTCCTGAGAAGACACGGACAGCGACGCCACCATCCGGGGCTCCCTGAGCGGGGTGCGGGCGCTGGAACCTTAACCGGCCCCACCCGCAACGCCCACCACCTGCAGCCCAGGAGCTCATCCTCCGTCTTCCTGAGGCGAACGGGGGCCTGGGGGACCATGCGGGAAAACCCCTTCTCATCCCCAGGCTTTTGGGACCCCCTCCCTGCCTCCAGCCTGTTCTGGAGACCTCCAAGCAGGAGCTGGAGGAGGATCCGCCCAGCACCGCAGCCCGCGCCGCCTCCTCCTGGGAGCCCCAAAGACACTCTCTGCTCCTCTCATCCCACACGCTTTACCGGTACCTTCAACAGCACCCACCGCGTTCACCCTGTGAACACTTCCTTAGTGATGACCTTGTGCCAGGCCTGCGCTGCCTCTAGGAATCCAAACGAGGGAAAACAGACCTCTCCACTCCTCTGGGGGAGCTTAAAGAGCAGTGAAAGCGATGGCCAAAAACCAAACACACAAGAGCTTAGACAGCAATGAGAAATATCAGAAGTGTGGCGTTCTAGAGCAGAGAATAATAGAAGATTCCCAGTTAAATTTGGATTTCCAATAAATTATGGTTGTGTATCTGAAATTCAGATTTCACTAGGAACCTGTATTTTATTTGTAACTCTAGCCCAACTTGCTAGTCAAACCTCAGAAGAAGGAGTGATTTAATACTTCCTTGTGTTCTTGAACACATGCCCAGATAGACATATACAACGTTTAAAATGATAAATGCAAAATGAATGAAAGTTTCTCCTATACATCAGAACTAGCAGCCCTTGCATTTCTGTCCCCACTCTAAGAAACAGCCTGGTACATATGAATATCAGAAATTGTGTCAATAATTCAGACACAATATAGTCACTACTCACTAATGATGGTCAAACTCTCAAACTCTATAATCAGAAAACCTGAATAAAAACACGATCTCTTCTACTTGGGTCAATTTTTACCAACCATAAGCCTTTTTGTAATCTATCAAATGCATTTAATAATAGCGTAATCCTCACAGGATTACCGTTAAGTGTAAAATTAAATGATGACACTTCTTAGCACTGATCACATAATAAACACTCGAATACATTCCCATTTTAACTTTTCTGATCCTATAACTGCAGCTCATATTATTTTTTGTATTCCTTAATTCTAAAGCAATTAGTATCTTCATCATGATTTTGCAATTGTCTTCTGTTCTTCTATTAGTTTCATAAAGAATTGTCATTCTGAAGACATAGGGCAGAAACACTGGTTTATGTCAAATAATGCAGTATACCTAAACCTCACACAAAAAGCATCTGCTGACATAGAAGAAACGGACTTTCTATATGCTCAGATTTAAACTGCAATCTGATTTCCAGCACTAAATTTGTAATACTGGGTGTTACTTATAACCTCTCAATTTTAGATTCCAGAGATGTATATGTTTTTAAATACCACAGATACAACAGGATCATTATTGAAATTGAATACTGAAATTCATAGGCCTGATACACAGTCATTGCAAAATGTTACATGGCATATAGTGATGGCGACTGGATTCATTTTATTTATCACTCCATTCTCATGACCTAGAGTAATAACTGGTATATGCTATGTCACTAATAAATATTGGCTGTGTGAAATACTGGCTGTGTTAAATATTGGCTGTGTGACATTTTGCATGAGTAGTCACCACTGCACACAGGGGCTCTCCGTATTTCCTCGCTAATAATGACTGAGCATCTCTGGTTCACAGGTCCTCCTCCTTCTCTTCAGCTTCTTTAGCCTTTTCCTTTAGGTTCAGCTGGCTCCCTGAACCCAGAGAACAATCCTTCCCTGAAGCTCTCTACTCAAAACAGTCAACC
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CCTGGAAGAGTTTTTTGATTCTTCTGTGTCTCAACTTTGTCACCTACAATGAAGGATAATTATACTAATTTACCTCTTGGGGTTATATGAGGATTAATGCACGTAAAATATATAAAACAATGACTGAAGATAGCCTTCAGTTTATGAGGTCAGAAAGCTTCTCACTCCATTCCACTGTGAGGGCACTCATCACACTTGAGTGCTCCACTTGGCACCTATTTATCATCCTTGTACACCTTGACAGAAAAATATGATTTAAAGCAATATGCATAGATAAAGGGACAGAGTTGGGTACATGAGGAAACCAAGTATGAATTTTAGGAATACTACTCCCATGCACTCACACCTTAGAACACAACAGAAATTGTTCTGCCCCTGGGAAGGTGGGACAGACAGAAATGATTCTCCAAATTTTTACTTTCCTAGAAAAGCATGAGTCCTGAAGCAGAGAGAAGGATTAGGGAACGTCATTTAAGTTTTGAAAGTTCTTATATTTACATTTAGCTGATCAATGCATCTCCCGTGCAACACAAGCATAATTATTATTAGGCCTATCATTGTAAAATGATTTTTCTTTCCAGAATCACATTTGGATTAAGGCAGTGTCTGGGACTCGTTACTTGGGGTGCTTATGCCCAGGAAAATCCCCGACACTAGCATACTCTCAATAAATACAACTATTTTTTTAGAAGTAAGGAGAAACCTGGAGACAACAATGCCACAAAATGGCAGATTTCAGATGGATTGTAGATCATTAATAAAAATGTTGCAATATATTTTATTAAATAAAAATGTTCAAATTCTTAACATGGAAAAGAATTTTCAAAATCCACATACAAACCACAAACTGGAGCAAATGCTGGATCAAATATCAATAAAGTGTTAATAATCTTATAGTACAAAGAACGCAGAAAGTCACTGAGAAAAATACTAAGCCCTCAAGATATTAGACCGTAGATCATTGTCCATTACCTACCAAATACAATAGGGAATTCTTAGAGCAATAATTATAATCGGCCAATAAATAGGGCAAAATAATTCAAAGGAATTACAAATAAAAAATATAAATTAAAAATTAACCAGAAACACACAATTTCAACTTCTGGTGAATGTCATAATAAAGGTCAACAAACGGGAAAGTGAGGTGAGTTGTGTCACAAATATTATATATAAAAGAATAATATGTAACTACTAGAAAACTACCAGCATTATAATAAAATAGTAACCGTGTCAAAACTTTAATTCAAAAAGTTAGTTTCACAGTCATTTCTACTATGTAAAAATATACACACTGAAAAAAACAAAAAACTAGGAAGAAATTTAGATCTAAAGAAGCTTCAGAGGTGCCTCAGAGGTCTACTCAGTTCCTCTAGAAATTAATCTATTGCTTTTACAAACAAACAGCACACACTTTTAATTCAGAGATTACACGAAGGGTGTATGCCAGGGAGAGTCTGGAACTGGCCTCCTCACATTATCCCAAACCTGCCTTACCCCTCAGCAGTCCTCCCCTAAACCTTCACCCCAACCACACACACCTTACATTTCCCTTCCCTGCATCTCTAAGGACCGAGATAATCAAGGTCTCCTCTCTCTCCAGCCCCCAGCACCCACCTCCCTTGTCACCTCCCCACAGAGGTCTCCAAGGATAAGAAACAGCCCCCTCCTGCCTCCCCTCCCACAACAGACACACAGACACAGACAAATCCACACTTTACACACACACCTGTGCTCTCAGAACTGCTTGCTCCGGACTGAGAGGATTCTAAATGCTCACAGATGGCGCTCTCTCTCTCTCTTCCTCTCTCTGTCTCTCTCTGTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACTCAGATTCCCAGCTCACGGGGACTCAGGCCCCGCCCGCGGCCATGCTCACCTCGCCGCTGCACTGTGAAGCTCTCCACAACCCCGTAGTTGTGTCTGCAGTAGGTGTCCACCGCGGCCCGCGCCTGCTCCAGGATGTCCTTCTGGCTGTTCCAGTACTCAGCGTCAGGCCGCCCCAGCACCGTCACCGCCCGGAACTCCCCCACGTCGCTGTCGAAGCGCACGGACTCCTCCTGGTTATAGAAGTATCTGTCCAGGAACCGCACCCGCTCCGTCCCATTGAAGAAATGACACTCCCTCTTAGGCTGCCACAGGAAACGTGCTGTGGGGACACGAACCATCCGGTCACAGGGCGGCCTCCTGAGAAGACACGGACAGCGACGCCACCATCCGGGGCTCCCTGAGCGGGGTGCGGGCGCTGGAACCTTAACCGGCCCCACCCGCAACGCCCACCACCTGCAGCCCAGGAGCTCATCCTCCGTCTTCCTGAGGCGAACGGGGGCCTGGGGGACCATGCGGGAAAACCCCTTCTCATCCCCAGGCTTTTGGGACCCCCTCCCTGCCTCCAGCCTGTTCTGGAGACCTCCAAGCAGGAGCTGGAGGAGGATCCGCCCAGCACCGCAGCCCGCGCCGCCTCCTCCTGGGAGCCCCAAAGACACTCTCTGCTCCTCTCATCCCACACGCTTTACCGGTACCTTCAACAGCACCCACCGCGTTCACCCTGTGAACACTTCCTTAGTGATGACCTTGTGCCAGGCCTGCGCTGCCTCTAGGAATCCAAACGAGGGAAAACAGACCTCTCCACTCCTCTGGGGGAGCTTAAAGAGCAGTGAAAGCGATGGCCAAAAACCAAACACACAAGAGCTTAGACAGCAATGAGAAATATCAGAAGTGTGGCGTTCTAGAGCAGAGAATAATAGAAGATTCCCAGTTAAATTTGGATTTCCAATAAATTATGGTTGTGTATCTGAAATTCAGATTTCACTAGGAACCTGTATTTTATTTGTAACTCTAGCCCAACTTGCTAGTCAAACCTCAGAAGAAGGAGTGATTTAATACTTCCTTGTGTTCTTGAACACATGCCCAGATAGACATATACAACGTTTAAAATGATAAATGCAAAATGAATGAAAGTTTCTCCTATACATCAGAACTAGCAGCCCTTGCATTTCTGTCCCCACTCTAAGAAACAGCCTGGTACATATGAATATCAGAAATTGTGTCAATAATTCAGACACAATATAGTCACTACTCACTAATGATGGTCAAACTCTCAAACTCTATAATCAGAAAACCTGAATAAAAACACGATCTCTTCTACTTGGGTCAATTTTTACCAACCATAAGCCTTTTTGTAATCTATCAAATGCATTTAATAATAGCGTAATCCTCACAGGATTACCGTTAAGTGTAAAATTAAATGATGACACTTCTTAGCACTGATCACATAATAAACACTCGAATACATTCCCATTTTAACTTTTCTGATCCTATAACTGCAGCTCATATTATTTTTTGTATTCCTTAATTCTAAAGCAATTAGTATCTTCATCATGATTTTGCAATTGTCTTCTGTTCTTCTATTAGTTTCATAAAGAATTGTCATTCTGAAGACATAGGGCAGAAACACTGGTTTATGTCAAATAATGCAGTATACCTAAACCTCACACAAAAAGCATCTGCTGACATAGAAGAAACGGACTTTCTATATGCTCAGATTTAAACTGCAATCTGATTTCCAGCACTAAATTTGTAATACTGGGTGTTACTTATAACCTCTCAATTTTAGATTCCAGAGATGTATATGTTTTTAAATACCACAGATACAACAGGATCATTATTGAAATTGAATACTGAAATTCATAGGCCTGATACACAGTCATTGCAAAATGTTACATGGCATATAGTGATGGCGACTGGATTCATTTTATTTATCACTCCATTCTCATGACCTAGAGTAATAACTGGTATATGCTATGTCACTAATAAATATTGGCTGTGTGAAATACTGGCTGTGTTAAATATTGGCTGTGTGACATTTTGCATGAGTAGTCACCACTGCACACAGGGGCTCTCCGTATTTCCTCGCTAATAATGACTGAGCATCTCTGGTTCACAGGTCCTCCTCCTTCTCTTCAGCTTCTTTAGCCTTTTCCTTTAGGTTCAGCTGGCTCCCTGAACCCAGAGAACAATCCTTCCCTGAAGCTCTCTACTCAAAACAGTCAACC
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Task1_train_10169
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A genomic change on Chromosome 6 affects PSMB8 (proteasome 20S subunit beta 8). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Proteasome-associated autoinflammatory syndrome 1
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CTCCAAATTATGTTGGGCGCACCTTCAGCCTATGAGGGAAATGCCCCGTACTGAGCTTTGGTTCTTGTTCTATTTTAACACTGTTTAGAACAGTAATTAGGTTTTTAAATATCCTTCCTGACCCAGAGCCTTCCTATGCAACAGAAAGATTCGTTTATTCCAGAAAGGACTCTTCAGATTGAAACCACCTCCCAAACTAAAAACAAACAAACAAACAAATTCCCCAAAGGAAGGGTCGCTTGGATTCCAGATCACCATTTTGAAATGTTACCTGTGTGACTACCAAGGAGTCACTTAAAGTTTAAAATAGTGGTGGTGGGGAGGAGGGATTTTAAGTAGGGGCTCGCTAAAGTTTTACAACTCTATTCATTCTGGCATTTTAAGAATCTCTCTCTAATGAAAAAAGCTCCATGCTCAAGCTCATGCTCCTACTTTCAAGCATTTGTTTCCTTTATTTTCTGGAAAGTGACATGGTCCATAGTTCCAGCATGATTCCGAAAATCTCATGATGTGTGTCTCTTTCTTCTAACCTGGATCTTTTACATTTTCCCCACACTCCTCACTTAGGGGAGTCCTCCTGATCTCTTCTTCCTCTAAAATTATAGTCCTGCCATCTTGCAATTCAGCATGACACATCATGAAATTAGACCCTTAATGTCTGTCTTTATATTCAATATCCAATATCTCCAAAGTGTTATTTGGGATAAATGGTATGGTGTTTATATGATTACCATATTAAAGTGAAGTGGAAGCTTTTTCATCCTACTCTATAAAGTCAAAAACAGTTATCCTAGGTGCCCTACTCCCTGTTCCTCAAACCATTAACAATGGAACACACAGGAGTCCCCAGGTGCCTCTCTATGGAAAGGACCCTAACCTATGTGAAATTGCAAACAAGTGTCCATGGACAGCAATGAGCAGCCTTCCTGAGGTCTTGGAGAGATGAGTGTGGAAGGAAACCCCAGGAAGAACTATGTGGTGAGGCCACATTTCTTAGATAGGGGTCTGAGCCCCTTCTCCAGAAAAAGCGTCTCTTTACTTTCTGCCCCACCCAACAACCACAGGCCCAACCCCATTCAGCCACAAGACAGAGGTATTTATAACCGTTTTTCTTTATTCTACTTAGTGGGGCACCCAGAAACTTCCCTGGGGGAAATGCTTGTTCAAATAGAGAACACGCAGAAGATGCACTTCACCGGCCTCCTCTGGCTGCTGAGCCCGTACTCTCTCTTTGGCTCAGGCTAGGCCTCTTCTTCTCCTTGGACTTAACGTGGCTTAGGTCCCTGAGTCGGCCAAGACCTCCCAGAGGAGACCTGCCCAGCTGCCACCACCACCATTATTGATTGGCTTCCCGGTACTGGTGCAGCAGGTCACTGACATCTGTACTTTCTACTTTCACCCAACCATCTTCCTTCATGTGGTACACTGTGGACAAATGAGAAAAGAACATGGAGTCACCTTTCACCTCAGCAAGTTCCTGTCACTGATGTTATGTTGAAGGCAGCAACAAGACACATGCGCAAGCTTAAAACCATATGACTGGGCCTTTAATGCCCTTCTTCTGACTCTGAAAATTTCCTCCCTACTACTCTCCCTCCTTTGAGTCTCTCAATCATTTTCTTTTTTTTCTTTTGAGAAGGAGTCTCACTCTGTGGCCCAGACTGGAATGCAGTGGCGCCATCTTGGCTCACTGCAAGCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGTCACCACGTCCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTTTCTCAATCTTAAATCACCCCCCCCACCACCCGCCGACTCCTCCCAGGCATGGTGGTGGGAGCATTGGTCTCTTACTATTGACAACGCCTCCAGAATAGCTGTCTCTGTGAGTGGCATAAGCAATAGCCCTGCGGCCAAGGTCATAGGCCTCTTCAGGGCTAAGATTAGGCCGATAGCCACTGTCCATGACCCCGTAGGCATAAGTGTTCCCACTACCCGTGGAGAACATATTTCCTGAGAGCCGAGTCCCATGTTCATCCACGTAGTAGAGTCCAGGACCCTATAAGATGAAAGATTTCAGGCTGAAATTGGAGAGGAAGATGTTGGTAACATGGGGGTTCAAATATGAGACATAAAAAGTGAACAAAAGAATTAATATTACCACAAGAACATTGGAATTAGGAAACCACTTTGGTAAAGTCATCGAACTTTAGAAATGAAAAAGGAAAAACAAACTTGAAATCAACTGTTTAACAAAAGGGACAAGCTTACAAAACACATGCAATGATTCATATCTGGGCCAATAAATAGTCCATGGATATACTGAAACAGTTCTATAACCAAGCACTCTATATGCCATGCATCTTGTCAGGGAGGGAGTAGGAGTATATGATGGGAAACAGATCTGTCATCCATAGGGAACATGGTGGGGGAACATGAAGAATGGAGAGCACCCACCTTCTTATCCCAGCCACAGATCATACTGCCCATAGAGAGGCCCATGCCCCGGTACTGGCACATCATGTTGGACAGCAGCTTGGAGGCTGCCGACACTGAAATACGTTCTCCATTTCGCAGATAGTACAGCCTGGGTGAGGACAAGGTGGAGTGAGGAAAGAGAGGTTAGCTCTTTCCAACTTGATGGGGCAGGAAATGATTAAAGAGATAAGCATTGGAAAGGAATTATTTTGTAGGATCTAAAGATCAGAGAAAGATTTGGAATTTAAAGTATCTGAAACATACAAAGGCAGCCTAGTAAATGATACTGTCCCGCCAGGGTGGATGTGTCAGTGCTAAATACCTGACGTACTATCTGGCTTATGAGTGGAGCACAGGCTGAGATTTGGGAGAAGGGTCTTATCACCAAAAAGCTGTTTTGTGAAATATACTATTAGCACTAAGATGGACCACATAGGACAAGAGTAAGGAGCAATGATCTGAGAGATCCAGGGATTAACCACTAGGCTAAGAAAGGAAGATGAGAGGCCTCGCTTACCTGCATTCCTTGGCCAGCAGGCGCTCCCAGTACTGACAGTCTGCTGCACAGCCAGACATGGTGCCAAGCAGGTAAGGGTTAATCTCAATCACCTTGTTCACCCGTAAGGCACCTGGAAGAAGATGGAGCTTTGGGAGAGAAGGGATGACCCCATAGATCCCCCAGTGTGTCCTAAATCAATATCCACTTCCACTTTGTTGCAGAGTTGGCCTCCTGTGGAAAGGAGAGCCCAGCTCCCCAGATTCTGCCTGCTGGAGCGTATACACTCACTAATGTAGGACCCAGCTGAGGCCCGAGAATCCACTGCTGCAATCACTCCATGCTGGAACTTGAAGGCGAGCGTGGTGGTGCCATGGGCCATCTCAATCTGAACGTTCCTTTCTCCGTCCCCACCCAGGGACTGGAAGAATTCTGTGGGCTGATAAGAGAAAAGAGGTTGAGAAAGGCAATGAAAAATTCTGTAGTAAGAGGCTCCAGGAAAAGGTTTTAGGGAGTATGAGGGTGAGGAGATATGCAGAAATGATCTAACCATCAATAAATGAAACAGTTAATAACCAATCTCTAGAAGGAAATGGCTTGGGAGAAGGAAAAGAAGAGGCATGCCAGTATCAACCTTTTCCATTTTCCAGCACAACAGAAATGAAAGCAAGCACATGTTACCATTACTAAAAAATTTTGAGAGTGACTTAAAGGGTTTCTTCCATGCATAAAGCATTCAACCCTCACAAAACACGTTTAGTAACAGTATCCTCACTTTACAGAAGAGGGGCTTGGGACCTAGACTAAGTGACTTGTTCTAAGTCGCGCAACAGTGAGTTGCTGAGAGGAGGCCAGCAGGCAAATTTCATAGGTTTCCCAAGACACCACACACCTCCTATATCATGTGATAACCCCATGAAAAAGGCTCCACCATTTGTGTGTGGACAAGGGCAGGAAAGTTCTCTTGTCTTCCTTTGGGAGCCCCCACCTCACCTGTAACTCTTTGTCCTAACTTGCACTTCCTCCTCTCAGGCCCCATCCCCATGTGGCCTCTTCTTTGGGTCTGGC
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CTCCAAATTATGTTGGGCGCACCTTCAGCCTATGAGGGAAATGCCCCGTACTGAGCTTTGGTTCTTGTTCTATTTTAACACTGTTTAGAACAGTAATTAGGTTTTTAAATATCCTTCCTGACCCAGAGCCTTCCTATGCAACAGAAAGATTCGTTTATTCCAGAAAGGACTCTTCAGATTGAAACCACCTCCCAAACTAAAAACAAACAAACAAACAAATTCCCCAAAGGAAGGGTCGCTTGGATTCCAGATCACCATTTTGAAATGTTACCTGTGTGACTACCAAGGAGTCACTTAAAGTTTAAAATAGTGGTGGTGGGGAGGAGGGATTTTAAGTAGGGGCTCGCTAAAGTTTTACAACTCTATTCATTCTGGCATTTTAAGAATCTCTCTCTAATGAAAAAAGCTCCATGCTCAAGCTCATGCTCCTACTTTCAAGCATTTGTTTCCTTTATTTTCTGGAAAGTGACATGGTCCATAGTTCCAGCATGATTCCGAAAATCTCATGATGTGTGTCTCTTTCTTCTAACCTGGATCTTTTACATTTTCCCCACACTCCTCACTTAGGGGAGTCCTCCTGATCTCTTCTTCCTCTAAAATTATAGTCCTGCCATCTTGCAATTCAGCATGACACATCATGAAATTAGACCCTTAATGTCTGTCTTTATATTCAATATCCAATATCTCCAAAGTGTTATTTGGGATAAATGGTATGGTGTTTATATGATTACCATATTAAAGTGAAGTGGAAGCTTTTTCATCCTACTCTATAAAGTCAAAAACAGTTATCCTAGGTGCCCTACTCCCTGTTCCTCAAACCATTAACAATGGAACACACAGGAGTCCCCAGGTGCCTCTCTATGGAAAGGACCCTAACCTATGTGAAATTGCAAACAAGTGTCCATGGACAGCAATGAGCAGCCTTCCTGAGGTCTTGGAGAGATGAGTGTGGAAGGAAACCCCAGGAAGAACTATGTGGTGAGGCCACATTTCTTAGATAGGGGTCTGAGCCCCTTCTCCAGAAAAAGCGTCTCTTTACTTTCTGCCCCACCCAACAACCACAGGCCCAACCCCATTCAGCCACAAGACAGAGGTATTTATAACCGTTTTTCTTTATTCTACTTAGTGGGGCACCCAGAAACTTCCCTGGGGGAAATGCTTGTTCAAATAGAGAACACGCAGAAGATGCACTTCACCGGCCTCCTCTGGCTGCTGAGCCCGTACTCTCTCTTTGGCTCAGGCTAGGCCTCTTCTTCTCCTTGGACTTAACGTGGCTTAGGTCCCTGAGTCGGCCAAGACCTCCCAGAGGAGACCTGCCCAGCTGCCACCACCACCATTATTGATTGGCTTCCCGGTACTGGTGCAGCAGGTCACTGACATCTGTACTTTCTACTTTCACCCAACCATCTTCCTTCATGTGGTACACTGTGGACAAATGAGAAAAGAACATGGAGTCACCTTTCACCTCAGCAAGTTCCTGTCACTGATGTTATGTTGAAGGCAGCAACAAGACACATGCGCAAGCTTAAAACCATATGACTGGGCCTTTAATGCCCTTCTTCTGACTCTGAAAATTTCCTCCCTACTACTCTCCCTCCTTTGAGTCTCTCAATCATTTTCTTTTTTTTCTTTTGAGAAGGAGTCTCACTCTGTGGCCCAGACTGGAATGCAGTGGCGCCATCTTGGCTCACTGCAAGCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGTCACCACGTCCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTTTCTCAATCTTAAATCACCCCCCCCACCACCCGCCGACTCCTCCCAGGCATGGTGGTGGGAGCATTGGTCTCTTACTATTGACAACGCCTCCAGAATAGCTGTCTCTGTGAGTGGCATAAGCAATAGCCCTGCGGCCAAGGTCATAGGCCTCTTCAGGGCTAAGATTAGGCCGATAGCCACTGTCCATGACCCCGTAGGCATAAGTGTTCCCACTAACCGTGGAGAACATATTTCCTGAGAGCCGAGTCCCATGTTCATCCACGTAGTAGAGTCCAGGACCCTATAAGATGAAAGATTTCAGGCTGAAATTGGAGAGGAAGATGTTGGTAACATGGGGGTTCAAATATGAGACATAAAAAGTGAACAAAAGAATTAATATTACCACAAGAACATTGGAATTAGGAAACCACTTTGGTAAAGTCATCGAACTTTAGAAATGAAAAAGGAAAAACAAACTTGAAATCAACTGTTTAACAAAAGGGACAAGCTTACAAAACACATGCAATGATTCATATCTGGGCCAATAAATAGTCCATGGATATACTGAAACAGTTCTATAACCAAGCACTCTATATGCCATGCATCTTGTCAGGGAGGGAGTAGGAGTATATGATGGGAAACAGATCTGTCATCCATAGGGAACATGGTGGGGGAACATGAAGAATGGAGAGCACCCACCTTCTTATCCCAGCCACAGATCATACTGCCCATAGAGAGGCCCATGCCCCGGTACTGGCACATCATGTTGGACAGCAGCTTGGAGGCTGCCGACACTGAAATACGTTCTCCATTTCGCAGATAGTACAGCCTGGGTGAGGACAAGGTGGAGTGAGGAAAGAGAGGTTAGCTCTTTCCAACTTGATGGGGCAGGAAATGATTAAAGAGATAAGCATTGGAAAGGAATTATTTTGTAGGATCTAAAGATCAGAGAAAGATTTGGAATTTAAAGTATCTGAAACATACAAAGGCAGCCTAGTAAATGATACTGTCCCGCCAGGGTGGATGTGTCAGTGCTAAATACCTGACGTACTATCTGGCTTATGAGTGGAGCACAGGCTGAGATTTGGGAGAAGGGTCTTATCACCAAAAAGCTGTTTTGTGAAATATACTATTAGCACTAAGATGGACCACATAGGACAAGAGTAAGGAGCAATGATCTGAGAGATCCAGGGATTAACCACTAGGCTAAGAAAGGAAGATGAGAGGCCTCGCTTACCTGCATTCCTTGGCCAGCAGGCGCTCCCAGTACTGACAGTCTGCTGCACAGCCAGACATGGTGCCAAGCAGGTAAGGGTTAATCTCAATCACCTTGTTCACCCGTAAGGCACCTGGAAGAAGATGGAGCTTTGGGAGAGAAGGGATGACCCCATAGATCCCCCAGTGTGTCCTAAATCAATATCCACTTCCACTTTGTTGCAGAGTTGGCCTCCTGTGGAAAGGAGAGCCCAGCTCCCCAGATTCTGCCTGCTGGAGCGTATACACTCACTAATGTAGGACCCAGCTGAGGCCCGAGAATCCACTGCTGCAATCACTCCATGCTGGAACTTGAAGGCGAGCGTGGTGGTGCCATGGGCCATCTCAATCTGAACGTTCCTTTCTCCGTCCCCACCCAGGGACTGGAAGAATTCTGTGGGCTGATAAGAGAAAAGAGGTTGAGAAAGGCAATGAAAAATTCTGTAGTAAGAGGCTCCAGGAAAAGGTTTTAGGGAGTATGAGGGTGAGGAGATATGCAGAAATGATCTAACCATCAATAAATGAAACAGTTAATAACCAATCTCTAGAAGGAAATGGCTTGGGAGAAGGAAAAGAAGAGGCATGCCAGTATCAACCTTTTCCATTTTCCAGCACAACAGAAATGAAAGCAAGCACATGTTACCATTACTAAAAAATTTTGAGAGTGACTTAAAGGGTTTCTTCCATGCATAAAGCATTCAACCCTCACAAAACACGTTTAGTAACAGTATCCTCACTTTACAGAAGAGGGGCTTGGGACCTAGACTAAGTGACTTGTTCTAAGTCGCGCAACAGTGAGTTGCTGAGAGGAGGCCAGCAGGCAAATTTCATAGGTTTCCCAAGACACCACACACCTCCTATATCATGTGATAACCCCATGAAAAAGGCTCCACCATTTGTGTGTGGACAAGGGCAGGAAAGTTCTCTTGTCTTCCTTTGGGAGCCCCCACCTCACCTGTAACTCTTTGTCCTAACTTGCACTTCCTCCTCTCAGGCCCCATCCCCATGTGGCCTCTTCTTTGGGTCTGGC
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Task1_train_10170
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Gene PSMB8 (proteasome 20S subunit beta 8) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Proteasome-associated autoinflammatory syndrome 1
|
ATTTATAACCGTTTTTCTTTATTCTACTTAGTGGGGCACCCAGAAACTTCCCTGGGGGAAATGCTTGTTCAAATAGAGAACACGCAGAAGATGCACTTCACCGGCCTCCTCTGGCTGCTGAGCCCGTACTCTCTCTTTGGCTCAGGCTAGGCCTCTTCTTCTCCTTGGACTTAACGTGGCTTAGGTCCCTGAGTCGGCCAAGACCTCCCAGAGGAGACCTGCCCAGCTGCCACCACCACCATTATTGATTGGCTTCCCGGTACTGGTGCAGCAGGTCACTGACATCTGTACTTTCTACTTTCACCCAACCATCTTCCTTCATGTGGTACACTGTGGACAAATGAGAAAAGAACATGGAGTCACCTTTCACCTCAGCAAGTTCCTGTCACTGATGTTATGTTGAAGGCAGCAACAAGACACATGCGCAAGCTTAAAACCATATGACTGGGCCTTTAATGCCCTTCTTCTGACTCTGAAAATTTCCTCCCTACTACTCTCCCTCCTTTGAGTCTCTCAATCATTTTCTTTTTTTTCTTTTGAGAAGGAGTCTCACTCTGTGGCCCAGACTGGAATGCAGTGGCGCCATCTTGGCTCACTGCAAGCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGTCACCACGTCCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTTTCTCAATCTTAAATCACCCCCCCCACCACCCGCCGACTCCTCCCAGGCATGGTGGTGGGAGCATTGGTCTCTTACTATTGACAACGCCTCCAGAATAGCTGTCTCTGTGAGTGGCATAAGCAATAGCCCTGCGGCCAAGGTCATAGGCCTCTTCAGGGCTAAGATTAGGCCGATAGCCACTGTCCATGACCCCGTAGGCATAAGTGTTCCCACTACCCGTGGAGAACATATTTCCTGAGAGCCGAGTCCCATGTTCATCCACGTAGTAGAGTCCAGGACCCTATAAGATGAAAGATTTCAGGCTGAAATTGGAGAGGAAGATGTTGGTAACATGGGGGTTCAAATATGAGACATAAAAAGTGAACAAAAGAATTAATATTACCACAAGAACATTGGAATTAGGAAACCACTTTGGTAAAGTCATCGAACTTTAGAAATGAAAAAGGAAAAACAAACTTGAAATCAACTGTTTAACAAAAGGGACAAGCTTACAAAACACATGCAATGATTCATATCTGGGCCAATAAATAGTCCATGGATATACTGAAACAGTTCTATAACCAAGCACTCTATATGCCATGCATCTTGTCAGGGAGGGAGTAGGAGTATATGATGGGAAACAGATCTGTCATCCATAGGGAACATGGTGGGGGAACATGAAGAATGGAGAGCACCCACCTTCTTATCCCAGCCACAGATCATACTGCCCATAGAGAGGCCCATGCCCCGGTACTGGCACATCATGTTGGACAGCAGCTTGGAGGCTGCCGACACTGAAATACGTTCTCCATTTCGCAGATAGTACAGCCTGGGTGAGGACAAGGTGGAGTGAGGAAAGAGAGGTTAGCTCTTTCCAACTTGATGGGGCAGGAAATGATTAAAGAGATAAGCATTGGAAAGGAATTATTTTGTAGGATCTAAAGATCAGAGAAAGATTTGGAATTTAAAGTATCTGAAACATACAAAGGCAGCCTAGTAAATGATACTGTCCCGCCAGGGTGGATGTGTCAGTGCTAAATACCTGACGTACTATCTGGCTTATGAGTGGAGCACAGGCTGAGATTTGGGAGAAGGGTCTTATCACCAAAAAGCTGTTTTGTGAAATATACTATTAGCACTAAGATGGACCACATAGGACAAGAGTAAGGAGCAATGATCTGAGAGATCCAGGGATTAACCACTAGGCTAAGAAAGGAAGATGAGAGGCCTCGCTTACCTGCATTCCTTGGCCAGCAGGCGCTCCCAGTACTGACAGTCTGCTGCACAGCCAGACATGGTGCCAAGCAGGTAAGGGTTAATCTCAATCACCTTGTTCACCCGTAAGGCACCTGGAAGAAGATGGAGCTTTGGGAGAGAAGGGATGACCCCATAGATCCCCCAGTGTGTCCTAAATCAATATCCACTTCCACTTTGTTGCAGAGTTGGCCTCCTGTGGAAAGGAGAGCCCAGCTCCCCAGATTCTGCCTGCTGGAGCGTATACACTCACTAATGTAGGACCCAGCTGAGGCCCGAGAATCCACTGCTGCAATCACTCCATGCTGGAACTTGAAGGCGAGCGTGGTGGTGCCATGGGCCATCTCAATCTGAACGTTCCTTTCTCCGTCCCCACCCAGGGACTGGAAGAATTCTGTGGGCTGATAAGAGAAAAGAGGTTGAGAAAGGCAATGAAAAATTCTGTAGTAAGAGGCTCCAGGAAAAGGTTTTAGGGAGTATGAGGGTGAGGAGATATGCAGAAATGATCTAACCATCAATAAATGAAACAGTTAATAACCAATCTCTAGAAGGAAATGGCTTGGGAGAAGGAAAAGAAGAGGCATGCCAGTATCAACCTTTTCCATTTTCCAGCACAACAGAAATGAAAGCAAGCACATGTTACCATTACTAAAAAATTTTGAGAGTGACTTAAAGGGTTTCTTCCATGCATAAAGCATTCAACCCTCACAAAACACGTTTAGTAACAGTATCCTCACTTTACAGAAGAGGGGCTTGGGACCTAGACTAAGTGACTTGTTCTAAGTCGCGCAACAGTGAGTTGCTGAGAGGAGGCCAGCAGGCAAATTTCATAGGTTTCCCAAGACACCACACACCTCCTATATCATGTGATAACCCCATGAAAAAGGCTCCACCATTTGTGTGTGGACAAGGGCAGGAAAGTTCTCTTGTCTTCCTTTGGGAGCCCCCACCTCACCTGTAACTCTTTGTCCTAACTTGCACTTCCTCCTCTCAGGCCCCATCCCCATGTGGCCTCTTCTTTGGGTCTGGCGCTCTCCGGGACTGAAGGCTACCCCCGACCCTGTACCCCGCGCTCCCGCTCTCGCCTCCTCCTCTCAGGCGACCCTCCACTCCTCAGCGCCCGCCTCCCTGCATCCCTAGGGGCTTCCCTACTGCCCCGACCTGCATTCCCCGGGGTAAAGCGAGCTCTGGAGATCGCATAGAGAAACTGTAGTGTCCTGGGTCCGAGCGACGCCCGCTTCCCGCAACCGGGAGAGCCGATTCCGGCCGCTGCCCTCGGGGGGCTCCGCATACATCTAGTAGCGCCATGACCGCCCAGCACCCAGAGATCTGTCCGCTCTCGGAGGAGGAAGTGAAAGCGAAAGCCACAGATCGAAGGGGAGGGAACAAGACTCTTTTCCACATCCCCCTGCCTTTTCCGAGAAAAGGACAGTTAGTGCCTGGACCAGGACCATCACACTGGGGACCGGCTTCTCTGCTCTCCCGTTATGGGGGTCGGGGGAATGATGGGTCAAGGGTCTTCCGAAGAAAGCGAGAAAGGAACAGGCGCCTTCAAAAGCCCACTTGGCGATGGGTTACAGTAAGAGGTACCTCCAGGCCCGGGCATCCGCTGGAAACAGGGGTGGGTAGGGTCGTGTCATCTAAAGGCGCAGCTTCAACCAGAAGACTAGAAGTCAGCCAGGAGCTGGGAGTAGTGTCACGCGGGGTGGGGGTTCCTATGAGCATCACTTTACAAAACCAGGAGGGACGGAAGTGCGAGGGGGCAGAGTCTTGGAAACAGGTCCTGGGCCAACTGCAACAGAATATACCCGCCGCGTGTAGGGGAAGGCGGCGCCAGGGAGAGGGCGCAGTCTCTGAATCTTTCCACGGGGTCCATCCTAGGGCCCCTCCAGGTTCAACGGTCTCCTAACCTGTAGTCACCCACAAGAGCGTGCCCTTTCTGCCCGCCCTTCCTAGCGTTGCTCCCTGCTTGGCTGAGCACTGCGGAGTTTCACGCCTCTAAACCCCGCCTCTTCTTGCAACCTGTGTTGGCCTCATCTACCCAGCAACTGTCGACGTCACACGACCTGGGCCTCCCTGAATGGGAGATATTTACTAGGCAATCCCGCCTACTGTTCTGAGGTTT
|
ATTTATAACCGTTTTTCTTTATTCTACTTAGTGGGGCACCCAGAAACTTCCCTGGGGGAAATGCTTGTTCAAATAGAGAACACGCAGAAGATGCACTTCACCGGCCTCCTCTGGCTGCTGAGCCCGTACTCTCTCTTTGGCTCAGGCTAGGCCTCTTCTTCTCCTTGGACTTAACGTGGCTTAGGTCCCTGAGTCGGCCAAGACCTCCCAGAGGAGACCTGCCCAGCTGCCACCACCACCATTATTGATTGGCTTCCCGGTACTGGTGCAGCAGGTCACTGACATCTGTACTTTCTACTTTCACCCAACCATCTTCCTTCATGTGGTACACTGTGGACAAATGAGAAAAGAACATGGAGTCACCTTTCACCTCAGCAAGTTCCTGTCACTGATGTTATGTTGAAGGCAGCAACAAGACACATGCGCAAGCTTAAAACCATATGACTGGGCCTTTAATGCCCTTCTTCTGACTCTGAAAATTTCCTCCCTACTACTCTCCCTCCTTTGAGTCTCTCAATCATTTTCTTTTTTTTCTTTTGAGAAGGAGTCTCACTCTGTGGCCCAGACTGGAATGCAGTGGCGCCATCTTGGCTCACTGCAAGCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGTCACCACGTCCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTTTCTCAATCTTAAATCACCCCCCCCACCACCCGCCGACTCCTCCCAGGCATGGTGGTGGGAGCATTGGTCTCTTACTATTGACAACGCCTCCAGAATAGCTGTCTCTGTGAGTGGCATAAGCAATAGCCCTGCGGCCAAGGTCATAGGCCTCTTCAGGGCTAAGATTAGGCCGATAGCCACTGTCCATGACCCCGTAGGCATAAGTGTTCCCACTACCCGTGGAGAACATATTTCCTGAGAGCCGAGTCCCATGTTCATCCACGTAGTAGAGTCCAGGACCCTATAAGATGAAAGATTTCAGGCTGAAATTGGAGAGGAAGATGTTGGTAACATGGGGGTTCAAATATGAGACATAAAAAGTGAACAAAAGAATTAATATTACCACAAGAACATTGGAATTAGGAAACCACTTTGGTAAAGTCATCGAACTTTAGAAATGAAAAAGGAAAAACAAACTTGAAATCAACTGTTTAACAAAAGGGACAAGCTTACAAAACACATGCAATGATTCATATCTGGGCCAATAAATAGTCCATGGATATACTGAAACAGTTCTATAACCAAGCACTCTATATGCCATGCATCTTGTCAGGGAGGGAGTAGGAGTATATGATGGGAAACAGATCTGTCATCCATAGGGAACATGGTGGGGGAACATGAAGAATGGAGAGCACCCACCTTCTTATCCCAGCCACAGATCATACTGCCCATAGAGAGGCCCATGCCCCGGTACTGGCACATCATGTTGGACAGCAGCTTGGAGGCTGCCGACACTGAAATACGTTCTCCATTTCGCAGATAGTACAGCCTGGGTGAGGACAAGGTGGAGTGAGGAAAGAGAGGTTAGCTCTTTCCAACTTGATGGGGCAGGAAATGATTAAAGAGATAAGCATTGGAAAGGAATTATTTTGTAGGATCTAAAGATCAGAGAAAGATTTGGAATTTAAAGTATCTGAAACATACAAAGGCAGCCTAGTAAATGATACTGTCCCGCCAGGGTGGATGTGTCAGTGCTAAATACCTGACGTACTATCTGGCTTATGAGTGGAGCACAGGCTGAGATTTGGGAGAAGGGTCTTATCACCAAAAAGCTGTTTTGTGAAATATACTATTAGCACTAAGATGGACCACATAGGACAAGAGTAAGGAGCAATGATCTGAGAGATCCAGGGATTAACCACTAGGCTAAGAAAGGAAGATGAGAGGCCTCGCTTACCTGCATTCCTTGGCCAGCAGGCGCTCCCAGTACTGACAGTCTGCTGCACAGCCAGACATGGTGCCAAGCAGGTAAGGGTTAATCTCAATCACCTGGTTCACCCGTAAGGCACCTGGAAGAAGATGGAGCTTTGGGAGAGAAGGGATGACCCCATAGATCCCCCAGTGTGTCCTAAATCAATATCCACTTCCACTTTGTTGCAGAGTTGGCCTCCTGTGGAAAGGAGAGCCCAGCTCCCCAGATTCTGCCTGCTGGAGCGTATACACTCACTAATGTAGGACCCAGCTGAGGCCCGAGAATCCACTGCTGCAATCACTCCATGCTGGAACTTGAAGGCGAGCGTGGTGGTGCCATGGGCCATCTCAATCTGAACGTTCCTTTCTCCGTCCCCACCCAGGGACTGGAAGAATTCTGTGGGCTGATAAGAGAAAAGAGGTTGAGAAAGGCAATGAAAAATTCTGTAGTAAGAGGCTCCAGGAAAAGGTTTTAGGGAGTATGAGGGTGAGGAGATATGCAGAAATGATCTAACCATCAATAAATGAAACAGTTAATAACCAATCTCTAGAAGGAAATGGCTTGGGAGAAGGAAAAGAAGAGGCATGCCAGTATCAACCTTTTCCATTTTCCAGCACAACAGAAATGAAAGCAAGCACATGTTACCATTACTAAAAAATTTTGAGAGTGACTTAAAGGGTTTCTTCCATGCATAAAGCATTCAACCCTCACAAAACACGTTTAGTAACAGTATCCTCACTTTACAGAAGAGGGGCTTGGGACCTAGACTAAGTGACTTGTTCTAAGTCGCGCAACAGTGAGTTGCTGAGAGGAGGCCAGCAGGCAAATTTCATAGGTTTCCCAAGACACCACACACCTCCTATATCATGTGATAACCCCATGAAAAAGGCTCCACCATTTGTGTGTGGACAAGGGCAGGAAAGTTCTCTTGTCTTCCTTTGGGAGCCCCCACCTCACCTGTAACTCTTTGTCCTAACTTGCACTTCCTCCTCTCAGGCCCCATCCCCATGTGGCCTCTTCTTTGGGTCTGGCGCTCTCCGGGACTGAAGGCTACCCCCGACCCTGTACCCCGCGCTCCCGCTCTCGCCTCCTCCTCTCAGGCGACCCTCCACTCCTCAGCGCCCGCCTCCCTGCATCCCTAGGGGCTTCCCTACTGCCCCGACCTGCATTCCCCGGGGTAAAGCGAGCTCTGGAGATCGCATAGAGAAACTGTAGTGTCCTGGGTCCGAGCGACGCCCGCTTCCCGCAACCGGGAGAGCCGATTCCGGCCGCTGCCCTCGGGGGGCTCCGCATACATCTAGTAGCGCCATGACCGCCCAGCACCCAGAGATCTGTCCGCTCTCGGAGGAGGAAGTGAAAGCGAAAGCCACAGATCGAAGGGGAGGGAACAAGACTCTTTTCCACATCCCCCTGCCTTTTCCGAGAAAAGGACAGTTAGTGCCTGGACCAGGACCATCACACTGGGGACCGGCTTCTCTGCTCTCCCGTTATGGGGGTCGGGGGAATGATGGGTCAAGGGTCTTCCGAAGAAAGCGAGAAAGGAACAGGCGCCTTCAAAAGCCCACTTGGCGATGGGTTACAGTAAGAGGTACCTCCAGGCCCGGGCATCCGCTGGAAACAGGGGTGGGTAGGGTCGTGTCATCTAAAGGCGCAGCTTCAACCAGAAGACTAGAAGTCAGCCAGGAGCTGGGAGTAGTGTCACGCGGGGTGGGGGTTCCTATGAGCATCACTTTACAAAACCAGGAGGGACGGAAGTGCGAGGGGGCAGAGTCTTGGAAACAGGTCCTGGGCCAACTGCAACAGAATATACCCGCCGCGTGTAGGGGAAGGCGGCGCCAGGGAGAGGGCGCAGTCTCTGAATCTTTCCACGGGGTCCATCCTAGGGCCCCTCCAGGTTCAACGGTCTCCTAACCTGTAGTCACCCACAAGAGCGTGCCCTTTCTGCCCGCCCTTCCTAGCGTTGCTCCCTGCTTGGCTGAGCACTGCGGAGTTTCACGCCTCTAAACCCCGCCTCTTCTTGCAACCTGTGTTGGCCTCATCTACCCAGCAACTGTCGACGTCACACGACCTGGGCCTCCCTGAATGGGAGATATTTACTAGGCAATCCCGCCTACTGTTCTGAGGTTT
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Task1_train_10171
|
A sequence alteration has been identified in PSMB8 (proteasome 20S subunit beta 8) on Chromosome 6. Is it disease-inducing or harmless?
|
Pathogenic; Proteasome-associated autoinflammatory syndrome 1
|
ATTGGCTTCCCGGTACTGGTGCAGCAGGTCACTGACATCTGTACTTTCTACTTTCACCCAACCATCTTCCTTCATGTGGTACACTGTGGACAAATGAGAAAAGAACATGGAGTCACCTTTCACCTCAGCAAGTTCCTGTCACTGATGTTATGTTGAAGGCAGCAACAAGACACATGCGCAAGCTTAAAACCATATGACTGGGCCTTTAATGCCCTTCTTCTGACTCTGAAAATTTCCTCCCTACTACTCTCCCTCCTTTGAGTCTCTCAATCATTTTCTTTTTTTTCTTTTGAGAAGGAGTCTCACTCTGTGGCCCAGACTGGAATGCAGTGGCGCCATCTTGGCTCACTGCAAGCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGTCACCACGTCCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTTTCTCAATCTTAAATCACCCCCCCCACCACCCGCCGACTCCTCCCAGGCATGGTGGTGGGAGCATTGGTCTCTTACTATTGACAACGCCTCCAGAATAGCTGTCTCTGTGAGTGGCATAAGCAATAGCCCTGCGGCCAAGGTCATAGGCCTCTTCAGGGCTAAGATTAGGCCGATAGCCACTGTCCATGACCCCGTAGGCATAAGTGTTCCCACTACCCGTGGAGAACATATTTCCTGAGAGCCGAGTCCCATGTTCATCCACGTAGTAGAGTCCAGGACCCTATAAGATGAAAGATTTCAGGCTGAAATTGGAGAGGAAGATGTTGGTAACATGGGGGTTCAAATATGAGACATAAAAAGTGAACAAAAGAATTAATATTACCACAAGAACATTGGAATTAGGAAACCACTTTGGTAAAGTCATCGAACTTTAGAAATGAAAAAGGAAAAACAAACTTGAAATCAACTGTTTAACAAAAGGGACAAGCTTACAAAACACATGCAATGATTCATATCTGGGCCAATAAATAGTCCATGGATATACTGAAACAGTTCTATAACCAAGCACTCTATATGCCATGCATCTTGTCAGGGAGGGAGTAGGAGTATATGATGGGAAACAGATCTGTCATCCATAGGGAACATGGTGGGGGAACATGAAGAATGGAGAGCACCCACCTTCTTATCCCAGCCACAGATCATACTGCCCATAGAGAGGCCCATGCCCCGGTACTGGCACATCATGTTGGACAGCAGCTTGGAGGCTGCCGACACTGAAATACGTTCTCCATTTCGCAGATAGTACAGCCTGGGTGAGGACAAGGTGGAGTGAGGAAAGAGAGGTTAGCTCTTTCCAACTTGATGGGGCAGGAAATGATTAAAGAGATAAGCATTGGAAAGGAATTATTTTGTAGGATCTAAAGATCAGAGAAAGATTTGGAATTTAAAGTATCTGAAACATACAAAGGCAGCCTAGTAAATGATACTGTCCCGCCAGGGTGGATGTGTCAGTGCTAAATACCTGACGTACTATCTGGCTTATGAGTGGAGCACAGGCTGAGATTTGGGAGAAGGGTCTTATCACCAAAAAGCTGTTTTGTGAAATATACTATTAGCACTAAGATGGACCACATAGGACAAGAGTAAGGAGCAATGATCTGAGAGATCCAGGGATTAACCACTAGGCTAAGAAAGGAAGATGAGAGGCCTCGCTTACCTGCATTCCTTGGCCAGCAGGCGCTCCCAGTACTGACAGTCTGCTGCACAGCCAGACATGGTGCCAAGCAGGTAAGGGTTAATCTCAATCACCTTGTTCACCCGTAAGGCACCTGGAAGAAGATGGAGCTTTGGGAGAGAAGGGATGACCCCATAGATCCCCCAGTGTGTCCTAAATCAATATCCACTTCCACTTTGTTGCAGAGTTGGCCTCCTGTGGAAAGGAGAGCCCAGCTCCCCAGATTCTGCCTGCTGGAGCGTATACACTCACTAATGTAGGACCCAGCTGAGGCCCGAGAATCCACTGCTGCAATCACTCCATGCTGGAACTTGAAGGCGAGCGTGGTGGTGCCATGGGCCATCTCAATCTGAACGTTCCTTTCTCCGTCCCCACCCAGGGACTGGAAGAATTCTGTGGGCTGATAAGAGAAAAGAGGTTGAGAAAGGCAATGAAAAATTCTGTAGTAAGAGGCTCCAGGAAAAGGTTTTAGGGAGTATGAGGGTGAGGAGATATGCAGAAATGATCTAACCATCAATAAATGAAACAGTTAATAACCAATCTCTAGAAGGAAATGGCTTGGGAGAAGGAAAAGAAGAGGCATGCCAGTATCAACCTTTTCCATTTTCCAGCACAACAGAAATGAAAGCAAGCACATGTTACCATTACTAAAAAATTTTGAGAGTGACTTAAAGGGTTTCTTCCATGCATAAAGCATTCAACCCTCACAAAACACGTTTAGTAACAGTATCCTCACTTTACAGAAGAGGGGCTTGGGACCTAGACTAAGTGACTTGTTCTAAGTCGCGCAACAGTGAGTTGCTGAGAGGAGGCCAGCAGGCAAATTTCATAGGTTTCCCAAGACACCACACACCTCCTATATCATGTGATAACCCCATGAAAAAGGCTCCACCATTTGTGTGTGGACAAGGGCAGGAAAGTTCTCTTGTCTTCCTTTGGGAGCCCCCACCTCACCTGTAACTCTTTGTCCTAACTTGCACTTCCTCCTCTCAGGCCCCATCCCCATGTGGCCTCTTCTTTGGGTCTGGCGCTCTCCGGGACTGAAGGCTACCCCCGACCCTGTACCCCGCGCTCCCGCTCTCGCCTCCTCCTCTCAGGCGACCCTCCACTCCTCAGCGCCCGCCTCCCTGCATCCCTAGGGGCTTCCCTACTGCCCCGACCTGCATTCCCCGGGGTAAAGCGAGCTCTGGAGATCGCATAGAGAAACTGTAGTGTCCTGGGTCCGAGCGACGCCCGCTTCCCGCAACCGGGAGAGCCGATTCCGGCCGCTGCCCTCGGGGGGCTCCGCATACATCTAGTAGCGCCATGACCGCCCAGCACCCAGAGATCTGTCCGCTCTCGGAGGAGGAAGTGAAAGCGAAAGCCACAGATCGAAGGGGAGGGAACAAGACTCTTTTCCACATCCCCCTGCCTTTTCCGAGAAAAGGACAGTTAGTGCCTGGACCAGGACCATCACACTGGGGACCGGCTTCTCTGCTCTCCCGTTATGGGGGTCGGGGGAATGATGGGTCAAGGGTCTTCCGAAGAAAGCGAGAAAGGAACAGGCGCCTTCAAAAGCCCACTTGGCGATGGGTTACAGTAAGAGGTACCTCCAGGCCCGGGCATCCGCTGGAAACAGGGGTGGGTAGGGTCGTGTCATCTAAAGGCGCAGCTTCAACCAGAAGACTAGAAGTCAGCCAGGAGCTGGGAGTAGTGTCACGCGGGGTGGGGGTTCCTATGAGCATCACTTTACAAAACCAGGAGGGACGGAAGTGCGAGGGGGCAGAGTCTTGGAAACAGGTCCTGGGCCAACTGCAACAGAATATACCCGCCGCGTGTAGGGGAAGGCGGCGCCAGGGAGAGGGCGCAGTCTCTGAATCTTTCCACGGGGTCCATCCTAGGGCCCCTCCAGGTTCAACGGTCTCCTAACCTGTAGTCACCCACAAGAGCGTGCCCTTTCTGCCCGCCCTTCCTAGCGTTGCTCCCTGCTTGGCTGAGCACTGCGGAGTTTCACGCCTCTAAACCCCGCCTCTTCTTGCAACCTGTGTTGGCCTCATCTACCCAGCAACTGTCGACGTCACACGACCTGGGCCTCCCTGAATGGGAGATATTTACTAGGCAATCCCGCCTACTGTTCTGAGGTTTCCCCTCCAGGTGCAGCTTCAGAGCCAGGCGAGCCAGGAAGGACCAGCGGGCGAGGTGGTGAGTTGTGAGGCGCGCCCAGTCCCTCTGTTCCCGCCTGGCACTTGCTCTGGCCGCGCCCGCCCCATCTGCCACTTCGGAGAGGCCACGGCTCTGAGCTGCGGCCGCTAGTGCCCTGATGGGCCCTGTGGCTGGGGTCTTGCACATTCTTGGGGGTGGGCCTAAGGGGATAGGGGAAGTGGAAGGGGCC
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ATTGGCTTCCCGGTACTGGTGCAGCAGGTCACTGACATCTGTACTTTCTACTTTCACCCAACCATCTTCCTTCATGTGGTACACTGTGGACAAATGAGAAAAGAACATGGAGTCACCTTTCACCTCAGCAAGTTCCTGTCACTGATGTTATGTTGAAGGCAGCAACAAGACACATGCGCAAGCTTAAAACCATATGACTGGGCCTTTAATGCCCTTCTTCTGACTCTGAAAATTTCCTCCCTACTACTCTCCCTCCTTTGAGTCTCTCAATCATTTTCTTTTTTTTCTTTTGAGAAGGAGTCTCACTCTGTGGCCCAGACTGGAATGCAGTGGCGCCATCTTGGCTCACTGCAAGCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGTCACCACGTCCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTTTCTCAATCTTAAATCACCCCCCCCACCACCCGCCGACTCCTCCCAGGCATGGTGGTGGGAGCATTGGTCTCTTACTATTGACAACGCCTCCAGAATAGCTGTCTCTGTGAGTGGCATAAGCAATAGCCCTGCGGCCAAGGTCATAGGCCTCTTCAGGGCTAAGATTAGGCCGATAGCCACTGTCCATGACCCCGTAGGCATAAGTGTTCCCACTACCCGTGGAGAACATATTTCCTGAGAGCCGAGTCCCATGTTCATCCACGTAGTAGAGTCCAGGACCCTATAAGATGAAAGATTTCAGGCTGAAATTGGAGAGGAAGATGTTGGTAACATGGGGGTTCAAATATGAGACATAAAAAGTGAACAAAAGAATTAATATTACCACAAGAACATTGGAATTAGGAAACCACTTTGGTAAAGTCATCGAACTTTAGAAATGAAAAAGGAAAAACAAACTTGAAATCAACTGTTTAACAAAAGGGACAAGCTTACAAAACACATGCAATGATTCATATCTGGGCCAATAAATAGTCCATGGATATACTGAAACAGTTCTATAACCAAGCACTCTATATGCCATGCATCTTGTCAGGGAGGGAGTAGGAGTATATGATGGGAAACAGATCTGTCATCCATAGGGAACATGGTGGGGGAACATGAAGAATGGAGAGCACCCACCTTCTTATCCCAGCCACAGATCATACTGCCCATAGAGAGGCCCATGCCCCGGTACTGGCACATCATGTTGGACAGCAGCTTGGAGGCTGCCGACACTGAAATACGTTCTCCATTTCGCAGATAGTACAGCCTGGGTGAGGACAAGGTGGAGTGAGGAAAGAGAGGTTAGCTCTTTCCAACTTGATGGGGCAGGAAATGATTAAAGAGATAAGCATTGGAAAGGAATTATTTTGTAGGATCTAAAGATCAGAGAAAGATTTGGAATTTAAAGTATCTGAAACATACAAAGGCAGCCTAGTAAATGATACTGTCCCGCCAGGGTGGATGTGTCAGTGCTAAATACCTGACGTACTATCTGGCTTATGAGTGGAGCACAGGCTGAGATTTGGGAGAAGGGTCTTATCACCAAAAAGCTGTTTTGTGAAATATACTATTAGCACTAAGATGGACCACATAGGACAAGAGTAAGGAGCAATGATCTGAGAGATCCAGGGATTAACCACTAGGCTAAGAAAGGAAGATGAGAGGCCTCGCTTACCTGCATTCCTTGGCCAGCAGGCGCTCCCAGTACTGACAGTCTGCTGCACAGCCAGACATGGTGCCAAGCAGGTAAGGGTTAATCTCAATCACCTTGTTCACCCGTAAGGCACCTGGAAGAAGATGGAGCTTTGGGAGAGAAGGGATGACCCCATAGATCCCCCAGTGTGTCCTAAATCAATATCCACTTCCACTTTGTTGCAGAGTTGGCCTCCTGTGGAAAGGAGAGCCCAGCTCCCCAGATTCTGCCTGCTGGAGCGTATACACTCACTAATGTAGGACCCAGCTGAGGCCCGAGAATCCACTGCTGCAATCACTCCATGCTGGAACTTGAAGGCGAGCATGGTGGTGCCATGGGCCATCTCAATCTGAACGTTCCTTTCTCCGTCCCCACCCAGGGACTGGAAGAATTCTGTGGGCTGATAAGAGAAAAGAGGTTGAGAAAGGCAATGAAAAATTCTGTAGTAAGAGGCTCCAGGAAAAGGTTTTAGGGAGTATGAGGGTGAGGAGATATGCAGAAATGATCTAACCATCAATAAATGAAACAGTTAATAACCAATCTCTAGAAGGAAATGGCTTGGGAGAAGGAAAAGAAGAGGCATGCCAGTATCAACCTTTTCCATTTTCCAGCACAACAGAAATGAAAGCAAGCACATGTTACCATTACTAAAAAATTTTGAGAGTGACTTAAAGGGTTTCTTCCATGCATAAAGCATTCAACCCTCACAAAACACGTTTAGTAACAGTATCCTCACTTTACAGAAGAGGGGCTTGGGACCTAGACTAAGTGACTTGTTCTAAGTCGCGCAACAGTGAGTTGCTGAGAGGAGGCCAGCAGGCAAATTTCATAGGTTTCCCAAGACACCACACACCTCCTATATCATGTGATAACCCCATGAAAAAGGCTCCACCATTTGTGTGTGGACAAGGGCAGGAAAGTTCTCTTGTCTTCCTTTGGGAGCCCCCACCTCACCTGTAACTCTTTGTCCTAACTTGCACTTCCTCCTCTCAGGCCCCATCCCCATGTGGCCTCTTCTTTGGGTCTGGCGCTCTCCGGGACTGAAGGCTACCCCCGACCCTGTACCCCGCGCTCCCGCTCTCGCCTCCTCCTCTCAGGCGACCCTCCACTCCTCAGCGCCCGCCTCCCTGCATCCCTAGGGGCTTCCCTACTGCCCCGACCTGCATTCCCCGGGGTAAAGCGAGCTCTGGAGATCGCATAGAGAAACTGTAGTGTCCTGGGTCCGAGCGACGCCCGCTTCCCGCAACCGGGAGAGCCGATTCCGGCCGCTGCCCTCGGGGGGCTCCGCATACATCTAGTAGCGCCATGACCGCCCAGCACCCAGAGATCTGTCCGCTCTCGGAGGAGGAAGTGAAAGCGAAAGCCACAGATCGAAGGGGAGGGAACAAGACTCTTTTCCACATCCCCCTGCCTTTTCCGAGAAAAGGACAGTTAGTGCCTGGACCAGGACCATCACACTGGGGACCGGCTTCTCTGCTCTCCCGTTATGGGGGTCGGGGGAATGATGGGTCAAGGGTCTTCCGAAGAAAGCGAGAAAGGAACAGGCGCCTTCAAAAGCCCACTTGGCGATGGGTTACAGTAAGAGGTACCTCCAGGCCCGGGCATCCGCTGGAAACAGGGGTGGGTAGGGTCGTGTCATCTAAAGGCGCAGCTTCAACCAGAAGACTAGAAGTCAGCCAGGAGCTGGGAGTAGTGTCACGCGGGGTGGGGGTTCCTATGAGCATCACTTTACAAAACCAGGAGGGACGGAAGTGCGAGGGGGCAGAGTCTTGGAAACAGGTCCTGGGCCAACTGCAACAGAATATACCCGCCGCGTGTAGGGGAAGGCGGCGCCAGGGAGAGGGCGCAGTCTCTGAATCTTTCCACGGGGTCCATCCTAGGGCCCCTCCAGGTTCAACGGTCTCCTAACCTGTAGTCACCCACAAGAGCGTGCCCTTTCTGCCCGCCCTTCCTAGCGTTGCTCCCTGCTTGGCTGAGCACTGCGGAGTTTCACGCCTCTAAACCCCGCCTCTTCTTGCAACCTGTGTTGGCCTCATCTACCCAGCAACTGTCGACGTCACACGACCTGGGCCTCCCTGAATGGGAGATATTTACTAGGCAATCCCGCCTACTGTTCTGAGGTTTCCCCTCCAGGTGCAGCTTCAGAGCCAGGCGAGCCAGGAAGGACCAGCGGGCGAGGTGGTGAGTTGTGAGGCGCGCCCAGTCCCTCTGTTCCCGCCTGGCACTTGCTCTGGCCGCGCCCGCCCCATCTGCCACTTCGGAGAGGCCACGGCTCTGAGCTGCGGCCGCTAGTGCCCTGATGGGCCCTGTGGCTGGGGTCTTGCACATTCTTGGGGGTGGGCCTAAGGGGATAGGGGAAGTGGAAGGGGCC
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Task1_train_10172
|
The gene PSMB8 (proteasome 20S subunit beta 8) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Proteosome-associated autoinflammatory syndrome
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ATTGGCTTCCCGGTACTGGTGCAGCAGGTCACTGACATCTGTACTTTCTACTTTCACCCAACCATCTTCCTTCATGTGGTACACTGTGGACAAATGAGAAAAGAACATGGAGTCACCTTTCACCTCAGCAAGTTCCTGTCACTGATGTTATGTTGAAGGCAGCAACAAGACACATGCGCAAGCTTAAAACCATATGACTGGGCCTTTAATGCCCTTCTTCTGACTCTGAAAATTTCCTCCCTACTACTCTCCCTCCTTTGAGTCTCTCAATCATTTTCTTTTTTTTCTTTTGAGAAGGAGTCTCACTCTGTGGCCCAGACTGGAATGCAGTGGCGCCATCTTGGCTCACTGCAAGCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGTCACCACGTCCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTTTCTCAATCTTAAATCACCCCCCCCACCACCCGCCGACTCCTCCCAGGCATGGTGGTGGGAGCATTGGTCTCTTACTATTGACAACGCCTCCAGAATAGCTGTCTCTGTGAGTGGCATAAGCAATAGCCCTGCGGCCAAGGTCATAGGCCTCTTCAGGGCTAAGATTAGGCCGATAGCCACTGTCCATGACCCCGTAGGCATAAGTGTTCCCACTACCCGTGGAGAACATATTTCCTGAGAGCCGAGTCCCATGTTCATCCACGTAGTAGAGTCCAGGACCCTATAAGATGAAAGATTTCAGGCTGAAATTGGAGAGGAAGATGTTGGTAACATGGGGGTTCAAATATGAGACATAAAAAGTGAACAAAAGAATTAATATTACCACAAGAACATTGGAATTAGGAAACCACTTTGGTAAAGTCATCGAACTTTAGAAATGAAAAAGGAAAAACAAACTTGAAATCAACTGTTTAACAAAAGGGACAAGCTTACAAAACACATGCAATGATTCATATCTGGGCCAATAAATAGTCCATGGATATACTGAAACAGTTCTATAACCAAGCACTCTATATGCCATGCATCTTGTCAGGGAGGGAGTAGGAGTATATGATGGGAAACAGATCTGTCATCCATAGGGAACATGGTGGGGGAACATGAAGAATGGAGAGCACCCACCTTCTTATCCCAGCCACAGATCATACTGCCCATAGAGAGGCCCATGCCCCGGTACTGGCACATCATGTTGGACAGCAGCTTGGAGGCTGCCGACACTGAAATACGTTCTCCATTTCGCAGATAGTACAGCCTGGGTGAGGACAAGGTGGAGTGAGGAAAGAGAGGTTAGCTCTTTCCAACTTGATGGGGCAGGAAATGATTAAAGAGATAAGCATTGGAAAGGAATTATTTTGTAGGATCTAAAGATCAGAGAAAGATTTGGAATTTAAAGTATCTGAAACATACAAAGGCAGCCTAGTAAATGATACTGTCCCGCCAGGGTGGATGTGTCAGTGCTAAATACCTGACGTACTATCTGGCTTATGAGTGGAGCACAGGCTGAGATTTGGGAGAAGGGTCTTATCACCAAAAAGCTGTTTTGTGAAATATACTATTAGCACTAAGATGGACCACATAGGACAAGAGTAAGGAGCAATGATCTGAGAGATCCAGGGATTAACCACTAGGCTAAGAAAGGAAGATGAGAGGCCTCGCTTACCTGCATTCCTTGGCCAGCAGGCGCTCCCAGTACTGACAGTCTGCTGCACAGCCAGACATGGTGCCAAGCAGGTAAGGGTTAATCTCAATCACCTTGTTCACCCGTAAGGCACCTGGAAGAAGATGGAGCTTTGGGAGAGAAGGGATGACCCCATAGATCCCCCAGTGTGTCCTAAATCAATATCCACTTCCACTTTGTTGCAGAGTTGGCCTCCTGTGGAAAGGAGAGCCCAGCTCCCCAGATTCTGCCTGCTGGAGCGTATACACTCACTAATGTAGGACCCAGCTGAGGCCCGAGAATCCACTGCTGCAATCACTCCATGCTGGAACTTGAAGGCGAGCGTGGTGGTGCCATGGGCCATCTCAATCTGAACGTTCCTTTCTCCGTCCCCACCCAGGGACTGGAAGAATTCTGTGGGCTGATAAGAGAAAAGAGGTTGAGAAAGGCAATGAAAAATTCTGTAGTAAGAGGCTCCAGGAAAAGGTTTTAGGGAGTATGAGGGTGAGGAGATATGCAGAAATGATCTAACCATCAATAAATGAAACAGTTAATAACCAATCTCTAGAAGGAAATGGCTTGGGAGAAGGAAAAGAAGAGGCATGCCAGTATCAACCTTTTCCATTTTCCAGCACAACAGAAATGAAAGCAAGCACATGTTACCATTACTAAAAAATTTTGAGAGTGACTTAAAGGGTTTCTTCCATGCATAAAGCATTCAACCCTCACAAAACACGTTTAGTAACAGTATCCTCACTTTACAGAAGAGGGGCTTGGGACCTAGACTAAGTGACTTGTTCTAAGTCGCGCAACAGTGAGTTGCTGAGAGGAGGCCAGCAGGCAAATTTCATAGGTTTCCCAAGACACCACACACCTCCTATATCATGTGATAACCCCATGAAAAAGGCTCCACCATTTGTGTGTGGACAAGGGCAGGAAAGTTCTCTTGTCTTCCTTTGGGAGCCCCCACCTCACCTGTAACTCTTTGTCCTAACTTGCACTTCCTCCTCTCAGGCCCCATCCCCATGTGGCCTCTTCTTTGGGTCTGGCGCTCTCCGGGACTGAAGGCTACCCCCGACCCTGTACCCCGCGCTCCCGCTCTCGCCTCCTCCTCTCAGGCGACCCTCCACTCCTCAGCGCCCGCCTCCCTGCATCCCTAGGGGCTTCCCTACTGCCCCGACCTGCATTCCCCGGGGTAAAGCGAGCTCTGGAGATCGCATAGAGAAACTGTAGTGTCCTGGGTCCGAGCGACGCCCGCTTCCCGCAACCGGGAGAGCCGATTCCGGCCGCTGCCCTCGGGGGGCTCCGCATACATCTAGTAGCGCCATGACCGCCCAGCACCCAGAGATCTGTCCGCTCTCGGAGGAGGAAGTGAAAGCGAAAGCCACAGATCGAAGGGGAGGGAACAAGACTCTTTTCCACATCCCCCTGCCTTTTCCGAGAAAAGGACAGTTAGTGCCTGGACCAGGACCATCACACTGGGGACCGGCTTCTCTGCTCTCCCGTTATGGGGGTCGGGGGAATGATGGGTCAAGGGTCTTCCGAAGAAAGCGAGAAAGGAACAGGCGCCTTCAAAAGCCCACTTGGCGATGGGTTACAGTAAGAGGTACCTCCAGGCCCGGGCATCCGCTGGAAACAGGGGTGGGTAGGGTCGTGTCATCTAAAGGCGCAGCTTCAACCAGAAGACTAGAAGTCAGCCAGGAGCTGGGAGTAGTGTCACGCGGGGTGGGGGTTCCTATGAGCATCACTTTACAAAACCAGGAGGGACGGAAGTGCGAGGGGGCAGAGTCTTGGAAACAGGTCCTGGGCCAACTGCAACAGAATATACCCGCCGCGTGTAGGGGAAGGCGGCGCCAGGGAGAGGGCGCAGTCTCTGAATCTTTCCACGGGGTCCATCCTAGGGCCCCTCCAGGTTCAACGGTCTCCTAACCTGTAGTCACCCACAAGAGCGTGCCCTTTCTGCCCGCCCTTCCTAGCGTTGCTCCCTGCTTGGCTGAGCACTGCGGAGTTTCACGCCTCTAAACCCCGCCTCTTCTTGCAACCTGTGTTGGCCTCATCTACCCAGCAACTGTCGACGTCACACGACCTGGGCCTCCCTGAATGGGAGATATTTACTAGGCAATCCCGCCTACTGTTCTGAGGTTTCCCCTCCAGGTGCAGCTTCAGAGCCAGGCGAGCCAGGAAGGACCAGCGGGCGAGGTGGTGAGTTGTGAGGCGCGCCCAGTCCCTCTGTTCCCGCCTGGCACTTGCTCTGGCCGCGCCCGCCCCATCTGCCACTTCGGAGAGGCCACGGCTCTGAGCTGCGGCCGCTAGTGCCCTGATGGGCCCTGTGGCTGGGGTCTTGCACATTCTTGGGGGTGGGCCTAAGGGGATAGGGGAAGTGGAAGGGGCC
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ATTGGCTTCCCGGTACTGGTGCAGCAGGTCACTGACATCTGTACTTTCTACTTTCACCCAACCATCTTCCTTCATGTGGTACACTGTGGACAAATGAGAAAAGAACATGGAGTCACCTTTCACCTCAGCAAGTTCCTGTCACTGATGTTATGTTGAAGGCAGCAACAAGACACATGCGCAAGCTTAAAACCATATGACTGGGCCTTTAATGCCCTTCTTCTGACTCTGAAAATTTCCTCCCTACTACTCTCCCTCCTTTGAGTCTCTCAATCATTTTCTTTTTTTTCTTTTGAGAAGGAGTCTCACTCTGTGGCCCAGACTGGAATGCAGTGGCGCCATCTTGGCTCACTGCAAGCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGTCACCACGTCCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTTTCTCAATCTTAAATCACCCCCCCCACCACCCGCCGACTCCTCCCAGGCATGGTGGTGGGAGCATTGGTCTCTTACTATTGACAACGCCTCCAGAATAGCTGTCTCTGTGAGTGGCATAAGCAATAGCCCTGCGGCCAAGGTCATAGGCCTCTTCAGGGCTAAGATTAGGCCGATAGCCACTGTCCATGACCCCGTAGGCATAAGTGTTCCCACTACCCGTGGAGAACATATTTCCTGAGAGCCGAGTCCCATGTTCATCCACGTAGTAGAGTCCAGGACCCTATAAGATGAAAGATTTCAGGCTGAAATTGGAGAGGAAGATGTTGGTAACATGGGGGTTCAAATATGAGACATAAAAAGTGAACAAAAGAATTAATATTACCACAAGAACATTGGAATTAGGAAACCACTTTGGTAAAGTCATCGAACTTTAGAAATGAAAAAGGAAAAACAAACTTGAAATCAACTGTTTAACAAAAGGGACAAGCTTACAAAACACATGCAATGATTCATATCTGGGCCAATAAATAGTCCATGGATATACTGAAACAGTTCTATAACCAAGCACTCTATATGCCATGCATCTTGTCAGGGAGGGAGTAGGAGTATATGATGGGAAACAGATCTGTCATCCATAGGGAACATGGTGGGGGAACATGAAGAATGGAGAGCACCCACCTTCTTATCCCAGCCACAGATCATACTGCCCATAGAGAGGCCCATGCCCCGGTACTGGCACATCATGTTGGACAGCAGCTTGGAGGCTGCCGACACTGAAATACGTTCTCCATTTCGCAGATAGTACAGCCTGGGTGAGGACAAGGTGGAGTGAGGAAAGAGAGGTTAGCTCTTTCCAACTTGATGGGGCAGGAAATGATTAAAGAGATAAGCATTGGAAAGGAATTATTTTGTAGGATCTAAAGATCAGAGAAAGATTTGGAATTTAAAGTATCTGAAACATACAAAGGCAGCCTAGTAAATGATACTGTCCCGCCAGGGTGGATGTGTCAGTGCTAAATACCTGACGTACTATCTGGCTTATGAGTGGAGCACAGGCTGAGATTTGGGAGAAGGGTCTTATCACCAAAAAGCTGTTTTGTGAAATATACTATTAGCACTAAGATGGACCACATAGGACAAGAGTAAGGAGCAATGATCTGAGAGATCCAGGGATTAACCACTAGGCTAAGAAAGGAAGATGAGAGGCCTCGCTTACCTGCATTCCTTGGCCAGCAGGCGCTCCCAGTACTGACAGTCTGCTGCACAGCCAGACATGGTGCCAAGCAGGTAAGGGTTAATCTCAATCACCTTGTTCACCCGTAAGGCACCTGGAAGAAGATGGAGCTTTGGGAGAGAAGGGATGACCCCATAGATCCCCCAGTGTGTCCTAAATCAATATCCACTTCCACTTTGTTGCAGAGTTGGCCTCCTGTGGAAAGGAGAGCCCAGCTCCCCAGATTCTGCCTGCTGGAGCGTATACACTCACTAATGTAGGACCCAGCTGAGGCCCGAGAATCCACTGCTGCAATCACTCCATGCTGGAACTTGAAGGCGAGCATGGTGGTGCCATGGGCCATCTCAATCTGAACGTTCCTTTCTCCGTCCCCACCCAGGGACTGGAAGAATTCTGTGGGCTGATAAGAGAAAAGAGGTTGAGAAAGGCAATGAAAAATTCTGTAGTAAGAGGCTCCAGGAAAAGGTTTTAGGGAGTATGAGGGTGAGGAGATATGCAGAAATGATCTAACCATCAATAAATGAAACAGTTAATAACCAATCTCTAGAAGGAAATGGCTTGGGAGAAGGAAAAGAAGAGGCATGCCAGTATCAACCTTTTCCATTTTCCAGCACAACAGAAATGAAAGCAAGCACATGTTACCATTACTAAAAAATTTTGAGAGTGACTTAAAGGGTTTCTTCCATGCATAAAGCATTCAACCCTCACAAAACACGTTTAGTAACAGTATCCTCACTTTACAGAAGAGGGGCTTGGGACCTAGACTAAGTGACTTGTTCTAAGTCGCGCAACAGTGAGTTGCTGAGAGGAGGCCAGCAGGCAAATTTCATAGGTTTCCCAAGACACCACACACCTCCTATATCATGTGATAACCCCATGAAAAAGGCTCCACCATTTGTGTGTGGACAAGGGCAGGAAAGTTCTCTTGTCTTCCTTTGGGAGCCCCCACCTCACCTGTAACTCTTTGTCCTAACTTGCACTTCCTCCTCTCAGGCCCCATCCCCATGTGGCCTCTTCTTTGGGTCTGGCGCTCTCCGGGACTGAAGGCTACCCCCGACCCTGTACCCCGCGCTCCCGCTCTCGCCTCCTCCTCTCAGGCGACCCTCCACTCCTCAGCGCCCGCCTCCCTGCATCCCTAGGGGCTTCCCTACTGCCCCGACCTGCATTCCCCGGGGTAAAGCGAGCTCTGGAGATCGCATAGAGAAACTGTAGTGTCCTGGGTCCGAGCGACGCCCGCTTCCCGCAACCGGGAGAGCCGATTCCGGCCGCTGCCCTCGGGGGGCTCCGCATACATCTAGTAGCGCCATGACCGCCCAGCACCCAGAGATCTGTCCGCTCTCGGAGGAGGAAGTGAAAGCGAAAGCCACAGATCGAAGGGGAGGGAACAAGACTCTTTTCCACATCCCCCTGCCTTTTCCGAGAAAAGGACAGTTAGTGCCTGGACCAGGACCATCACACTGGGGACCGGCTTCTCTGCTCTCCCGTTATGGGGGTCGGGGGAATGATGGGTCAAGGGTCTTCCGAAGAAAGCGAGAAAGGAACAGGCGCCTTCAAAAGCCCACTTGGCGATGGGTTACAGTAAGAGGTACCTCCAGGCCCGGGCATCCGCTGGAAACAGGGGTGGGTAGGGTCGTGTCATCTAAAGGCGCAGCTTCAACCAGAAGACTAGAAGTCAGCCAGGAGCTGGGAGTAGTGTCACGCGGGGTGGGGGTTCCTATGAGCATCACTTTACAAAACCAGGAGGGACGGAAGTGCGAGGGGGCAGAGTCTTGGAAACAGGTCCTGGGCCAACTGCAACAGAATATACCCGCCGCGTGTAGGGGAAGGCGGCGCCAGGGAGAGGGCGCAGTCTCTGAATCTTTCCACGGGGTCCATCCTAGGGCCCCTCCAGGTTCAACGGTCTCCTAACCTGTAGTCACCCACAAGAGCGTGCCCTTTCTGCCCGCCCTTCCTAGCGTTGCTCCCTGCTTGGCTGAGCACTGCGGAGTTTCACGCCTCTAAACCCCGCCTCTTCTTGCAACCTGTGTTGGCCTCATCTACCCAGCAACTGTCGACGTCACACGACCTGGGCCTCCCTGAATGGGAGATATTTACTAGGCAATCCCGCCTACTGTTCTGAGGTTTCCCCTCCAGGTGCAGCTTCAGAGCCAGGCGAGCCAGGAAGGACCAGCGGGCGAGGTGGTGAGTTGTGAGGCGCGCCCAGTCCCTCTGTTCCCGCCTGGCACTTGCTCTGGCCGCGCCCGCCCCATCTGCCACTTCGGAGAGGCCACGGCTCTGAGCTGCGGCCGCTAGTGCCCTGATGGGCCCTGTGGCTGGGGTCTTGCACATTCTTGGGGGTGGGCCTAAGGGGATAGGGGAAGTGGAAGGGGCC
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Task1_train_10173
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A change on Chromosome 6 affects gene PSMB8 (proteasome 20S subunit beta 8). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; PSMB8-related disorder
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ATTGGCTTCCCGGTACTGGTGCAGCAGGTCACTGACATCTGTACTTTCTACTTTCACCCAACCATCTTCCTTCATGTGGTACACTGTGGACAAATGAGAAAAGAACATGGAGTCACCTTTCACCTCAGCAAGTTCCTGTCACTGATGTTATGTTGAAGGCAGCAACAAGACACATGCGCAAGCTTAAAACCATATGACTGGGCCTTTAATGCCCTTCTTCTGACTCTGAAAATTTCCTCCCTACTACTCTCCCTCCTTTGAGTCTCTCAATCATTTTCTTTTTTTTCTTTTGAGAAGGAGTCTCACTCTGTGGCCCAGACTGGAATGCAGTGGCGCCATCTTGGCTCACTGCAAGCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGTCACCACGTCCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTTTCTCAATCTTAAATCACCCCCCCCACCACCCGCCGACTCCTCCCAGGCATGGTGGTGGGAGCATTGGTCTCTTACTATTGACAACGCCTCCAGAATAGCTGTCTCTGTGAGTGGCATAAGCAATAGCCCTGCGGCCAAGGTCATAGGCCTCTTCAGGGCTAAGATTAGGCCGATAGCCACTGTCCATGACCCCGTAGGCATAAGTGTTCCCACTACCCGTGGAGAACATATTTCCTGAGAGCCGAGTCCCATGTTCATCCACGTAGTAGAGTCCAGGACCCTATAAGATGAAAGATTTCAGGCTGAAATTGGAGAGGAAGATGTTGGTAACATGGGGGTTCAAATATGAGACATAAAAAGTGAACAAAAGAATTAATATTACCACAAGAACATTGGAATTAGGAAACCACTTTGGTAAAGTCATCGAACTTTAGAAATGAAAAAGGAAAAACAAACTTGAAATCAACTGTTTAACAAAAGGGACAAGCTTACAAAACACATGCAATGATTCATATCTGGGCCAATAAATAGTCCATGGATATACTGAAACAGTTCTATAACCAAGCACTCTATATGCCATGCATCTTGTCAGGGAGGGAGTAGGAGTATATGATGGGAAACAGATCTGTCATCCATAGGGAACATGGTGGGGGAACATGAAGAATGGAGAGCACCCACCTTCTTATCCCAGCCACAGATCATACTGCCCATAGAGAGGCCCATGCCCCGGTACTGGCACATCATGTTGGACAGCAGCTTGGAGGCTGCCGACACTGAAATACGTTCTCCATTTCGCAGATAGTACAGCCTGGGTGAGGACAAGGTGGAGTGAGGAAAGAGAGGTTAGCTCTTTCCAACTTGATGGGGCAGGAAATGATTAAAGAGATAAGCATTGGAAAGGAATTATTTTGTAGGATCTAAAGATCAGAGAAAGATTTGGAATTTAAAGTATCTGAAACATACAAAGGCAGCCTAGTAAATGATACTGTCCCGCCAGGGTGGATGTGTCAGTGCTAAATACCTGACGTACTATCTGGCTTATGAGTGGAGCACAGGCTGAGATTTGGGAGAAGGGTCTTATCACCAAAAAGCTGTTTTGTGAAATATACTATTAGCACTAAGATGGACCACATAGGACAAGAGTAAGGAGCAATGATCTGAGAGATCCAGGGATTAACCACTAGGCTAAGAAAGGAAGATGAGAGGCCTCGCTTACCTGCATTCCTTGGCCAGCAGGCGCTCCCAGTACTGACAGTCTGCTGCACAGCCAGACATGGTGCCAAGCAGGTAAGGGTTAATCTCAATCACCTTGTTCACCCGTAAGGCACCTGGAAGAAGATGGAGCTTTGGGAGAGAAGGGATGACCCCATAGATCCCCCAGTGTGTCCTAAATCAATATCCACTTCCACTTTGTTGCAGAGTTGGCCTCCTGTGGAAAGGAGAGCCCAGCTCCCCAGATTCTGCCTGCTGGAGCGTATACACTCACTAATGTAGGACCCAGCTGAGGCCCGAGAATCCACTGCTGCAATCACTCCATGCTGGAACTTGAAGGCGAGCGTGGTGGTGCCATGGGCCATCTCAATCTGAACGTTCCTTTCTCCGTCCCCACCCAGGGACTGGAAGAATTCTGTGGGCTGATAAGAGAAAAGAGGTTGAGAAAGGCAATGAAAAATTCTGTAGTAAGAGGCTCCAGGAAAAGGTTTTAGGGAGTATGAGGGTGAGGAGATATGCAGAAATGATCTAACCATCAATAAATGAAACAGTTAATAACCAATCTCTAGAAGGAAATGGCTTGGGAGAAGGAAAAGAAGAGGCATGCCAGTATCAACCTTTTCCATTTTCCAGCACAACAGAAATGAAAGCAAGCACATGTTACCATTACTAAAAAATTTTGAGAGTGACTTAAAGGGTTTCTTCCATGCATAAAGCATTCAACCCTCACAAAACACGTTTAGTAACAGTATCCTCACTTTACAGAAGAGGGGCTTGGGACCTAGACTAAGTGACTTGTTCTAAGTCGCGCAACAGTGAGTTGCTGAGAGGAGGCCAGCAGGCAAATTTCATAGGTTTCCCAAGACACCACACACCTCCTATATCATGTGATAACCCCATGAAAAAGGCTCCACCATTTGTGTGTGGACAAGGGCAGGAAAGTTCTCTTGTCTTCCTTTGGGAGCCCCCACCTCACCTGTAACTCTTTGTCCTAACTTGCACTTCCTCCTCTCAGGCCCCATCCCCATGTGGCCTCTTCTTTGGGTCTGGCGCTCTCCGGGACTGAAGGCTACCCCCGACCCTGTACCCCGCGCTCCCGCTCTCGCCTCCTCCTCTCAGGCGACCCTCCACTCCTCAGCGCCCGCCTCCCTGCATCCCTAGGGGCTTCCCTACTGCCCCGACCTGCATTCCCCGGGGTAAAGCGAGCTCTGGAGATCGCATAGAGAAACTGTAGTGTCCTGGGTCCGAGCGACGCCCGCTTCCCGCAACCGGGAGAGCCGATTCCGGCCGCTGCCCTCGGGGGGCTCCGCATACATCTAGTAGCGCCATGACCGCCCAGCACCCAGAGATCTGTCCGCTCTCGGAGGAGGAAGTGAAAGCGAAAGCCACAGATCGAAGGGGAGGGAACAAGACTCTTTTCCACATCCCCCTGCCTTTTCCGAGAAAAGGACAGTTAGTGCCTGGACCAGGACCATCACACTGGGGACCGGCTTCTCTGCTCTCCCGTTATGGGGGTCGGGGGAATGATGGGTCAAGGGTCTTCCGAAGAAAGCGAGAAAGGAACAGGCGCCTTCAAAAGCCCACTTGGCGATGGGTTACAGTAAGAGGTACCTCCAGGCCCGGGCATCCGCTGGAAACAGGGGTGGGTAGGGTCGTGTCATCTAAAGGCGCAGCTTCAACCAGAAGACTAGAAGTCAGCCAGGAGCTGGGAGTAGTGTCACGCGGGGTGGGGGTTCCTATGAGCATCACTTTACAAAACCAGGAGGGACGGAAGTGCGAGGGGGCAGAGTCTTGGAAACAGGTCCTGGGCCAACTGCAACAGAATATACCCGCCGCGTGTAGGGGAAGGCGGCGCCAGGGAGAGGGCGCAGTCTCTGAATCTTTCCACGGGGTCCATCCTAGGGCCCCTCCAGGTTCAACGGTCTCCTAACCTGTAGTCACCCACAAGAGCGTGCCCTTTCTGCCCGCCCTTCCTAGCGTTGCTCCCTGCTTGGCTGAGCACTGCGGAGTTTCACGCCTCTAAACCCCGCCTCTTCTTGCAACCTGTGTTGGCCTCATCTACCCAGCAACTGTCGACGTCACACGACCTGGGCCTCCCTGAATGGGAGATATTTACTAGGCAATCCCGCCTACTGTTCTGAGGTTTCCCCTCCAGGTGCAGCTTCAGAGCCAGGCGAGCCAGGAAGGACCAGCGGGCGAGGTGGTGAGTTGTGAGGCGCGCCCAGTCCCTCTGTTCCCGCCTGGCACTTGCTCTGGCCGCGCCCGCCCCATCTGCCACTTCGGAGAGGCCACGGCTCTGAGCTGCGGCCGCTAGTGCCCTGATGGGCCCTGTGGCTGGGGTCTTGCACATTCTTGGGGGTGGGCCTAAGGGGATAGGGGAAGTGGAAGGGGCC
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ATTGGCTTCCCGGTACTGGTGCAGCAGGTCACTGACATCTGTACTTTCTACTTTCACCCAACCATCTTCCTTCATGTGGTACACTGTGGACAAATGAGAAAAGAACATGGAGTCACCTTTCACCTCAGCAAGTTCCTGTCACTGATGTTATGTTGAAGGCAGCAACAAGACACATGCGCAAGCTTAAAACCATATGACTGGGCCTTTAATGCCCTTCTTCTGACTCTGAAAATTTCCTCCCTACTACTCTCCCTCCTTTGAGTCTCTCAATCATTTTCTTTTTTTTCTTTTGAGAAGGAGTCTCACTCTGTGGCCCAGACTGGAATGCAGTGGCGCCATCTTGGCTCACTGCAAGCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGTCACCACGTCCGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTTTCTCAATCTTAAATCACCCCCCCCACCACCCGCCGACTCCTCCCAGGCATGGTGGTGGGAGCATTGGTCTCTTACTATTGACAACGCCTCCAGAATAGCTGTCTCTGTGAGTGGCATAAGCAATAGCCCTGCGGCCAAGGTCATAGGCCTCTTCAGGGCTAAGATTAGGCCGATAGCCACTGTCCATGACCCCGTAGGCATAAGTGTTCCCACTACCCGTGGAGAACATATTTCCTGAGAGCCGAGTCCCATGTTCATCCACGTAGTAGAGTCCAGGACCCTATAAGATGAAAGATTTCAGGCTGAAATTGGAGAGGAAGATGTTGGTAACATGGGGGTTCAAATATGAGACATAAAAAGTGAACAAAAGAATTAATATTACCACAAGAACATTGGAATTAGGAAACCACTTTGGTAAAGTCATCGAACTTTAGAAATGAAAAAGGAAAAACAAACTTGAAATCAACTGTTTAACAAAAGGGACAAGCTTACAAAACACATGCAATGATTCATATCTGGGCCAATAAATAGTCCATGGATATACTGAAACAGTTCTATAACCAAGCACTCTATATGCCATGCATCTTGTCAGGGAGGGAGTAGGAGTATATGATGGGAAACAGATCTGTCATCCATAGGGAACATGGTGGGGGAACATGAAGAATGGAGAGCACCCACCTTCTTATCCCAGCCACAGATCATACTGCCCATAGAGAGGCCCATGCCCCGGTACTGGCACATCATGTTGGACAGCAGCTTGGAGGCTGCCGACACTGAAATACGTTCTCCATTTCGCAGATAGTACAGCCTGGGTGAGGACAAGGTGGAGTGAGGAAAGAGAGGTTAGCTCTTTCCAACTTGATGGGGCAGGAAATGATTAAAGAGATAAGCATTGGAAAGGAATTATTTTGTAGGATCTAAAGATCAGAGAAAGATTTGGAATTTAAAGTATCTGAAACATACAAAGGCAGCCTAGTAAATGATACTGTCCCGCCAGGGTGGATGTGTCAGTGCTAAATACCTGACGTACTATCTGGCTTATGAGTGGAGCACAGGCTGAGATTTGGGAGAAGGGTCTTATCACCAAAAAGCTGTTTTGTGAAATATACTATTAGCACTAAGATGGACCACATAGGACAAGAGTAAGGAGCAATGATCTGAGAGATCCAGGGATTAACCACTAGGCTAAGAAAGGAAGATGAGAGGCCTCGCTTACCTGCATTCCTTGGCCAGCAGGCGCTCCCAGTACTGACAGTCTGCTGCACAGCCAGACATGGTGCCAAGCAGGTAAGGGTTAATCTCAATCACCTTGTTCACCCGTAAGGCACCTGGAAGAAGATGGAGCTTTGGGAGAGAAGGGATGACCCCATAGATCCCCCAGTGTGTCCTAAATCAATATCCACTTCCACTTTGTTGCAGAGTTGGCCTCCTGTGGAAAGGAGAGCCCAGCTCCCCAGATTCTGCCTGCTGGAGCGTATACACTCACTAATGTAGGACCCAGCTGAGGCCCGAGAATCCACTGCTGCAATCACTCCATGCTGGAACTTGAAGGCGAGCATGGTGGTGCCATGGGCCATCTCAATCTGAACGTTCCTTTCTCCGTCCCCACCCAGGGACTGGAAGAATTCTGTGGGCTGATAAGAGAAAAGAGGTTGAGAAAGGCAATGAAAAATTCTGTAGTAAGAGGCTCCAGGAAAAGGTTTTAGGGAGTATGAGGGTGAGGAGATATGCAGAAATGATCTAACCATCAATAAATGAAACAGTTAATAACCAATCTCTAGAAGGAAATGGCTTGGGAGAAGGAAAAGAAGAGGCATGCCAGTATCAACCTTTTCCATTTTCCAGCACAACAGAAATGAAAGCAAGCACATGTTACCATTACTAAAAAATTTTGAGAGTGACTTAAAGGGTTTCTTCCATGCATAAAGCATTCAACCCTCACAAAACACGTTTAGTAACAGTATCCTCACTTTACAGAAGAGGGGCTTGGGACCTAGACTAAGTGACTTGTTCTAAGTCGCGCAACAGTGAGTTGCTGAGAGGAGGCCAGCAGGCAAATTTCATAGGTTTCCCAAGACACCACACACCTCCTATATCATGTGATAACCCCATGAAAAAGGCTCCACCATTTGTGTGTGGACAAGGGCAGGAAAGTTCTCTTGTCTTCCTTTGGGAGCCCCCACCTCACCTGTAACTCTTTGTCCTAACTTGCACTTCCTCCTCTCAGGCCCCATCCCCATGTGGCCTCTTCTTTGGGTCTGGCGCTCTCCGGGACTGAAGGCTACCCCCGACCCTGTACCCCGCGCTCCCGCTCTCGCCTCCTCCTCTCAGGCGACCCTCCACTCCTCAGCGCCCGCCTCCCTGCATCCCTAGGGGCTTCCCTACTGCCCCGACCTGCATTCCCCGGGGTAAAGCGAGCTCTGGAGATCGCATAGAGAAACTGTAGTGTCCTGGGTCCGAGCGACGCCCGCTTCCCGCAACCGGGAGAGCCGATTCCGGCCGCTGCCCTCGGGGGGCTCCGCATACATCTAGTAGCGCCATGACCGCCCAGCACCCAGAGATCTGTCCGCTCTCGGAGGAGGAAGTGAAAGCGAAAGCCACAGATCGAAGGGGAGGGAACAAGACTCTTTTCCACATCCCCCTGCCTTTTCCGAGAAAAGGACAGTTAGTGCCTGGACCAGGACCATCACACTGGGGACCGGCTTCTCTGCTCTCCCGTTATGGGGGTCGGGGGAATGATGGGTCAAGGGTCTTCCGAAGAAAGCGAGAAAGGAACAGGCGCCTTCAAAAGCCCACTTGGCGATGGGTTACAGTAAGAGGTACCTCCAGGCCCGGGCATCCGCTGGAAACAGGGGTGGGTAGGGTCGTGTCATCTAAAGGCGCAGCTTCAACCAGAAGACTAGAAGTCAGCCAGGAGCTGGGAGTAGTGTCACGCGGGGTGGGGGTTCCTATGAGCATCACTTTACAAAACCAGGAGGGACGGAAGTGCGAGGGGGCAGAGTCTTGGAAACAGGTCCTGGGCCAACTGCAACAGAATATACCCGCCGCGTGTAGGGGAAGGCGGCGCCAGGGAGAGGGCGCAGTCTCTGAATCTTTCCACGGGGTCCATCCTAGGGCCCCTCCAGGTTCAACGGTCTCCTAACCTGTAGTCACCCACAAGAGCGTGCCCTTTCTGCCCGCCCTTCCTAGCGTTGCTCCCTGCTTGGCTGAGCACTGCGGAGTTTCACGCCTCTAAACCCCGCCTCTTCTTGCAACCTGTGTTGGCCTCATCTACCCAGCAACTGTCGACGTCACACGACCTGGGCCTCCCTGAATGGGAGATATTTACTAGGCAATCCCGCCTACTGTTCTGAGGTTTCCCCTCCAGGTGCAGCTTCAGAGCCAGGCGAGCCAGGAAGGACCAGCGGGCGAGGTGGTGAGTTGTGAGGCGCGCCCAGTCCCTCTGTTCCCGCCTGGCACTTGCTCTGGCCGCGCCCGCCCCATCTGCCACTTCGGAGAGGCCACGGCTCTGAGCTGCGGCCGCTAGTGCCCTGATGGGCCCTGTGGCTGGGGTCTTGCACATTCTTGGGGGTGGGCCTAAGGGGATAGGGGAAGTGGAAGGGGCC
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Task1_train_10174
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This variant affects gene PSMB9 (proteasome 20S subunit beta 9) located on Chromosome 6. Evaluate its biological effect and specify any disease association.
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Pathogenic; Proteasome-associated autoinflammatory syndrome 6
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TGGGGTCTGAATGTGTATGTGACCTGTCCCAGTAGTGTACAGGGATGAGTAAAGGAATAGGGTCTGAGAGGGGGACAGGAGATAGATTTTTGAGGGTCTTCTTTCCATCTGTGCTTAGGGATCAAAAAGATGATTCTGTCAAGCAGATACCTGGTTTCTCATTTACCATATATTGAACTATTTTGTCTCTTCTCCCACTCCTAACCAATTTCCTCACATGCAAAATGAGTATATGGGGTTAGGTCAATATTACTGACATTATGTTCCATAGAACATAACTCTCTCAAGATTGTTAATAGCAAAGAAAATTGATGAGGCATATTTTTCTTACCTTAGCATTTTTTGCTTTGTTATAAAATCTAAGCCTGAAAAATAAGCCTAATTTTGATTAACATCTGCAGTGATTAATAATATCTGAGATGATTATTTGCCTCCTGCTTTAATCCAAGCATTAAACTTCATGCTATTCTCTTGTCAAAGAAATTTGAGAGACATTGAATGATCACCCTCAAAAATTCCTGAGTTCTGGTTGGGTGCAGTGGCTCACATCTATAATCTCAGCACTTTGGGATGCCGAGGTGGGCAGATATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGTTGGGACCTTGTCTCTACTGAAAATACAAACATTAGCTGGGCTTGGTGGTGGGTGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGGGAGGCGAAGTTTGCAGTGAGCCCAAGATTGATCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAACCTGAGTTTTAACTTGGTGACTGTTGACTCCCTCCTGACAGCGAGGCGGTGGTGAACCGAGTGTTTGACAAGCTGTCCCCGCTGCACGAGCGCATCTACTGTGCACTCTCTGGTTCAGCTGCTGATGCCCAAGCCGTGGCCGACATGGCCGCCTACCAGCTGGAGCTCCATGGGTATGAAGCTCTGGAGTTCTGACTCCCCACCCACTAGAGCTCCCCCAACCTGCATGAATCCCTGTACAGTGTGCTGTTCCAGGAGCTGGACACTGGGAAATGGAAAAGTCTTGTTTCGGCTCTTGCTGGCACTTGAATCTGTCAGTTTCTGCATCTGTAAAGTGGAGATAATATAGTACCTCATGAGACGGTTATTTTGAGAACCACATTCTATATGTGAACACAGTTTAAAAGCTGTAAATCACTATCCTGATATAAATAATCAGGAAGAAGGTGATATTGTGACCCACCATAATATCAGGCAGTTACCATACGAGAAATCAAGGTCGTTGGGACGGAAGTAACCTTATCTGCTTTTCCCCATAAGAGCAGGGTCCTTGCAGCCAAAAGAAAGTTATGTGGGTGGGGCTGAGCAAAAGAGTGAGCAATTGAAAGCTTCTTACCAGTTGGTGGTGTGGGACTCTGGTTCCCCTGTACATGTGGGAGGGAGGCTGCAGTTTGAGCTATTGCAGTTACAGTTTTCAGGGGTCGTTTAGCAGGGATGATGGTAACAGTATAGGAGAATGAGACTTAAAATTCTATCAACCTTTATTCCTAATATTTCCCTCAGGATAGAACTGGAGGAACCTCCACTTGTTTTGGCTGCTGCAAATGTGGTGAGAAATATCAGCTATAAATATCGAGAGGACTTGTCTGCACATCTCATGGTAGCTGGCTGGGACCAACGTGAAGGAGGTCAGGTGAGTTTCTCCCAAAGCACTCTCTCCTCTGGGCTTCCCCACTCTCCTGCAGAGGAAGATGGAAGTCCTATGTCATTCTAGCAATGAGTTCCAAGGACACTACCTCTGAAAGCATAGTACTTTGGGGATATGAGATACCAGGGCTTCATTGCAGGGTGCAGAGACCACTTAATGTCTCAGTGGGAAGGAAGGGCTTGATGATTCTTTAACCTGAGGATCCCTTTCCCAGGTATATGGAACCCTGGGAGGAATGCTGACTCGACAGCCTTTTGCCATTGGTGGCTCCGGCAGCACCTTTATCTATGGTTATGTGGATGCAGCATATAAGCCAGGCATGTCTCCCGAGGAGTGCAGGCGCTTCACCACAGACGGTAACCAGCCAAGTGGAAGGGTACCTGGGGAGGGCTTTGAAACATGGGAAGGAAGTAGATTATGAGGAACAGGAAGAGAAATACAGGGGTGGCCATTTAAGTTAATGCCGGGCCTGGTACACTTTTAAGAGTGAAAAGGGGCAGGACAAATGCAAAGCTCAATGGGGTTCTTGGGCAATACGGATAAACCAGGGCTGTTCTGAGTAAATCAAATGAGGATACACAGTCACTGTGAGAACCAGTGGTGTGCTAAGCACAGTGGCTCACACCTGTAATGCCAACAATTTGGGAGGCTGAGGCAGGAGGATTACTTGAGCCCAGGAGTTTGAGGCCAGCCTAGGCAAGATGGTGAAACCCTGTCTCCACAAAAAACAATAAAAAAAAGTAAAAAAAAAAATGAACTGGGCATAGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGAAAGATCATCTGAGCCGGGGAGATCAAGGCTGTAGTGAGCGGTGATTGCACCACTGCGCTGCAGCCTAGGTGACAGAGAGAGACCCTGTCTGGAGAAAAAAAAAAAAAAAAAGAACCAGTGGTGTGCTGAGGTGTGCTGAGGCTGGCTTGGGACCACTCATGAGAGCGGACTGTTAAATAGTCAAGGATTTGTGAACTGCTTAGCTATTTGTAACTTGCAATTCATCATAGCGGGAGCATTTACACCACGGACATCAGCAGATGCCACATATGGAAGCCTTTTTGTAAAAAAACTGATTTACCAGCACACCACTAAATATGCCTTCCTGGAAGATGAGTTTTGAGGTGAAAGTGGTAGTAGGCATATGGATGGAGGGGGAGTAAAAAGATTTTTGAAGCTAAGCCATCCTCTCTCTCCCTCTCTCCAACTTGAAACCCTCTGCAGCTATTGCTCTGGCCATGAGCCGGGATGGCTCAAGCGGGGGTGTCATCTACCTGGTCACTATTACAGCTGCCGGTGTGGACCATCGAGTCATCTTGGGCAATGAACTGCCAAAATTCTATGATGAGTGAACCTTCCCCAGACTTCTCTTTCTTATTTTGTAATAAACTCTCTAGGGCCAAAACCTGGTATGGTCATTGGGAAATGAGTGCTCAGGGAGATGGAGCTTAGGGGAGGTGGGTGCTTCCCTCCTAGATGTCAGCATACACTCTTTCTTCTTTTGTCCCAGGTCTAAAACATCTTTCCTAGAGAAAACAAAAGGGACTAAACTAGAAATATAAAGAGCCCTATACATGACAGGTGATCACGTACTGAATGATTTTGAAGTAGTACAAACAATAAAAATTCTCATTCCGCATCATCATGCGGTCCATGATGATGAGGCCGCAAGTGAGGTGATGGGACTCTTTCCTTTAAGGCTAAGACTGACAGATAGGCAAGACACCTACACACATGAGAATTAGCTAAGACTATCAGCAAACTCGCATGTAAAAGAATTCCTTTCATAATGCATTCATTCATATTAAAGGGCAATACATGAAAAATGCTTAAATATTTTGGGGCACTTGTGAATTTCAAAGAATAATGACAATAACCAAAAGAAGCTACATTTGTGGCATTGGCTAAATGTTTTATAAATTTTATCTCTTAAAATTCAAACCAAAAAACCCCCTGTATTCACACCTGTAATCCCAGCACTTTGGGAGGTCAAGGCGGGAGGATTGCTTGAGCCCAGGAGTTAGTGACCAGCCTGGGCAACATAGTGAGAACCCCATCTCTACAAAAAAATTTAAAAATTAGTCGGGTGCGGTGGTGCATGCCTGTAGTCCCAGCTGCCTGGGAGGCTGAGTGGGAGGATCGCTTAGGCCTGGGAGTTTGAGGCTACAGTGAGCTGTGATTGCGCCACTGCACTCTAGCGTGGGTGACAGAGAAAGACCCTATCTTAAGAAAAAAAAAAGAAAAGAAAAAGAAAAAACAAACAAAAAAAACACCCAACCCTATATAGGTATTATTATTACTTCTATA
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TGGGGTCTGAATGTGTATGTGACCTGTCCCAGTAGTGTACAGGGATGAGTAAAGGAATAGGGTCTGAGAGGGGGACAGGAGATAGATTTTTGAGGGTCTTCTTTCCATCTGTGCTTAGGGATCAAAAAGATGATTCTGTCAAGCAGATACCTGGTTTCTCATTTACCATATATTGAACTATTTTGTCTCTTCTCCCACTCCTAACCAATTTCCTCACATGCAAAATGAGTATATGGGGTTAGGTCAATATTACTGACATTATGTTCCATAGAACATAACTCTCTCAAGATTGTTAATAGCAAAGAAAATTGATGAGGCATATTTTTCTTACCTTAGCATTTTTTGCTTTGTTATAAAATCTAAGCCTGAAAAATAAGCCTAATTTTGATTAACATCTGCAGTGATTAATAATATCTGAGATGATTATTTGCCTCCTGCTTTAATCCAAGCATTAAACTTCATGCTATTCTCTTGTCAAAGAAATTTGAGAGACATTGAATGATCACCCTCAAAAATTCCTGAGTTCTGGTTGGGTGCAGTGGCTCACATCTATAATCTCAGCACTTTGGGATGCCGAGGTGGGCAGATATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGTTGGGACCTTGTCTCTACTGAAAATACAAACATTAGCTGGGCTTGGTGGTGGGTGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGGGAGGCGAAGTTTGCAGTGAGCCCAAGATTGATCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAACCTGAGTTTTAACTTGGTGACTGTTGACTCCCTCCTGACAGCGAGGCGGTGGTGAACCGAGTGTTTGACAAGCTGTCCCCGCTGCACGAGCGCATCTACTGTGCACTCTCTGGTTCAGCTGCTGATGCCCAAGCCGTGGCCGACATGGCCGCCTACCAGCTGGAGCTCCATGGGTATGAAGCTCTGGAGTTCTGACTCCCCACCCACTAGAGCTCCCCCAACCTGCATGAATCCCTGTACAGTGTGCTGTTCCAGGAGCTGGACACTGGGAAATGGAAAAGTCTTGTTTCGGCTCTTGCTGGCACTTGAATCTGTCAGTTTCTGCATCTGTAAAGTGGAGATAATATAGTACCTCATGAGACGGTTATTTTGAGAACCACATTCTATATGTGAACACAGTTTAAAAGCTGTAAATCACTATCCTGATATAAATAATCAGGAAGAAGGTGATATTGTGACCCACCATAATATCAGGCAGTTACCATACGAGAAATCAAGGTCGTTGGGACGGAAGTAACCTTATCTGCTTTTCCCCATAAGAGCAGGGTCCTTGCAGCCAAAAGAAAGTTATGTGGGTGGGGCTGAGCAAAAGAGTGAGCAATTGAAAGCTTCTTACCAGTTGGTGGTGTGGGACTCTGGTTCCCCTGTACATGTGGGAGGGAGGCTGCAGTTTGAGCTATTGCAGTTACAGTTTTCAGGGGTCGTTTAGCAGGGATGATGGTAACAGTATAGGAGAATGAGACTTAAAATTCTATCAACCTTTATTCCTAATATTTCCCTCAGGATAGAACTGGAGGAACCTCCACTTGTTTTGGCTGCTGCAAATGTGGTGAGAAATATCAGCTATAAATATCGAGAGGACTTGTCTGCACATCTCATGGTAGCTGGCTGGGACCAACGTGAAGGAGGTCAGGTGAGTTTCTCCCAAAGCACTCTCTCCTCTGGGCTTCCCCACTCTCCTGCAGAGGAAGATGGAAGTCCTATGTCATTCTAGCAATGAGTTCCAAGGACACTACCTCTGAAAGCATAGTACTTTGGGGATATGAGATACCAGGGCTTCATTGCAGGGTGCAGAGACCACTTAATGTCTCAGTGGGAAGGAAGGGCTTGATGATTCTTTAACCTGAGGATCCCTTTCCCAGGTATATGGAACCCTGGGAGGAATGCTGACTCGACAGCCTTTTGCCATTGGTGGCTCCGGCAGCACCTTTATCTATGATTATGTGGATGCAGCATATAAGCCAGGCATGTCTCCCGAGGAGTGCAGGCGCTTCACCACAGACGGTAACCAGCCAAGTGGAAGGGTACCTGGGGAGGGCTTTGAAACATGGGAAGGAAGTAGATTATGAGGAACAGGAAGAGAAATACAGGGGTGGCCATTTAAGTTAATGCCGGGCCTGGTACACTTTTAAGAGTGAAAAGGGGCAGGACAAATGCAAAGCTCAATGGGGTTCTTGGGCAATACGGATAAACCAGGGCTGTTCTGAGTAAATCAAATGAGGATACACAGTCACTGTGAGAACCAGTGGTGTGCTAAGCACAGTGGCTCACACCTGTAATGCCAACAATTTGGGAGGCTGAGGCAGGAGGATTACTTGAGCCCAGGAGTTTGAGGCCAGCCTAGGCAAGATGGTGAAACCCTGTCTCCACAAAAAACAATAAAAAAAAGTAAAAAAAAAAATGAACTGGGCATAGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGAAAGATCATCTGAGCCGGGGAGATCAAGGCTGTAGTGAGCGGTGATTGCACCACTGCGCTGCAGCCTAGGTGACAGAGAGAGACCCTGTCTGGAGAAAAAAAAAAAAAAAAAGAACCAGTGGTGTGCTGAGGTGTGCTGAGGCTGGCTTGGGACCACTCATGAGAGCGGACTGTTAAATAGTCAAGGATTTGTGAACTGCTTAGCTATTTGTAACTTGCAATTCATCATAGCGGGAGCATTTACACCACGGACATCAGCAGATGCCACATATGGAAGCCTTTTTGTAAAAAAACTGATTTACCAGCACACCACTAAATATGCCTTCCTGGAAGATGAGTTTTGAGGTGAAAGTGGTAGTAGGCATATGGATGGAGGGGGAGTAAAAAGATTTTTGAAGCTAAGCCATCCTCTCTCTCCCTCTCTCCAACTTGAAACCCTCTGCAGCTATTGCTCTGGCCATGAGCCGGGATGGCTCAAGCGGGGGTGTCATCTACCTGGTCACTATTACAGCTGCCGGTGTGGACCATCGAGTCATCTTGGGCAATGAACTGCCAAAATTCTATGATGAGTGAACCTTCCCCAGACTTCTCTTTCTTATTTTGTAATAAACTCTCTAGGGCCAAAACCTGGTATGGTCATTGGGAAATGAGTGCTCAGGGAGATGGAGCTTAGGGGAGGTGGGTGCTTCCCTCCTAGATGTCAGCATACACTCTTTCTTCTTTTGTCCCAGGTCTAAAACATCTTTCCTAGAGAAAACAAAAGGGACTAAACTAGAAATATAAAGAGCCCTATACATGACAGGTGATCACGTACTGAATGATTTTGAAGTAGTACAAACAATAAAAATTCTCATTCCGCATCATCATGCGGTCCATGATGATGAGGCCGCAAGTGAGGTGATGGGACTCTTTCCTTTAAGGCTAAGACTGACAGATAGGCAAGACACCTACACACATGAGAATTAGCTAAGACTATCAGCAAACTCGCATGTAAAAGAATTCCTTTCATAATGCATTCATTCATATTAAAGGGCAATACATGAAAAATGCTTAAATATTTTGGGGCACTTGTGAATTTCAAAGAATAATGACAATAACCAAAAGAAGCTACATTTGTGGCATTGGCTAAATGTTTTATAAATTTTATCTCTTAAAATTCAAACCAAAAAACCCCCTGTATTCACACCTGTAATCCCAGCACTTTGGGAGGTCAAGGCGGGAGGATTGCTTGAGCCCAGGAGTTAGTGACCAGCCTGGGCAACATAGTGAGAACCCCATCTCTACAAAAAAATTTAAAAATTAGTCGGGTGCGGTGGTGCATGCCTGTAGTCCCAGCTGCCTGGGAGGCTGAGTGGGAGGATCGCTTAGGCCTGGGAGTTTGAGGCTACAGTGAGCTGTGATTGCGCCACTGCACTCTAGCGTGGGTGACAGAGAAAGACCCTATCTTAAGAAAAAAAAAAGAAAAGAAAAAGAAAAAACAAACAAAAAAAACACCCAACCCTATATAGGTATTATTATTACTTCTATA
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Task1_train_10175
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A sequence alteration has been identified in PSMB9 (proteasome 20S subunit beta 9) on Chromosome 6. Is it disease-inducing or harmless?
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Pathogenic; proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID)
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TGGGGTCTGAATGTGTATGTGACCTGTCCCAGTAGTGTACAGGGATGAGTAAAGGAATAGGGTCTGAGAGGGGGACAGGAGATAGATTTTTGAGGGTCTTCTTTCCATCTGTGCTTAGGGATCAAAAAGATGATTCTGTCAAGCAGATACCTGGTTTCTCATTTACCATATATTGAACTATTTTGTCTCTTCTCCCACTCCTAACCAATTTCCTCACATGCAAAATGAGTATATGGGGTTAGGTCAATATTACTGACATTATGTTCCATAGAACATAACTCTCTCAAGATTGTTAATAGCAAAGAAAATTGATGAGGCATATTTTTCTTACCTTAGCATTTTTTGCTTTGTTATAAAATCTAAGCCTGAAAAATAAGCCTAATTTTGATTAACATCTGCAGTGATTAATAATATCTGAGATGATTATTTGCCTCCTGCTTTAATCCAAGCATTAAACTTCATGCTATTCTCTTGTCAAAGAAATTTGAGAGACATTGAATGATCACCCTCAAAAATTCCTGAGTTCTGGTTGGGTGCAGTGGCTCACATCTATAATCTCAGCACTTTGGGATGCCGAGGTGGGCAGATATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGTTGGGACCTTGTCTCTACTGAAAATACAAACATTAGCTGGGCTTGGTGGTGGGTGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGGGAGGCGAAGTTTGCAGTGAGCCCAAGATTGATCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAACCTGAGTTTTAACTTGGTGACTGTTGACTCCCTCCTGACAGCGAGGCGGTGGTGAACCGAGTGTTTGACAAGCTGTCCCCGCTGCACGAGCGCATCTACTGTGCACTCTCTGGTTCAGCTGCTGATGCCCAAGCCGTGGCCGACATGGCCGCCTACCAGCTGGAGCTCCATGGGTATGAAGCTCTGGAGTTCTGACTCCCCACCCACTAGAGCTCCCCCAACCTGCATGAATCCCTGTACAGTGTGCTGTTCCAGGAGCTGGACACTGGGAAATGGAAAAGTCTTGTTTCGGCTCTTGCTGGCACTTGAATCTGTCAGTTTCTGCATCTGTAAAGTGGAGATAATATAGTACCTCATGAGACGGTTATTTTGAGAACCACATTCTATATGTGAACACAGTTTAAAAGCTGTAAATCACTATCCTGATATAAATAATCAGGAAGAAGGTGATATTGTGACCCACCATAATATCAGGCAGTTACCATACGAGAAATCAAGGTCGTTGGGACGGAAGTAACCTTATCTGCTTTTCCCCATAAGAGCAGGGTCCTTGCAGCCAAAAGAAAGTTATGTGGGTGGGGCTGAGCAAAAGAGTGAGCAATTGAAAGCTTCTTACCAGTTGGTGGTGTGGGACTCTGGTTCCCCTGTACATGTGGGAGGGAGGCTGCAGTTTGAGCTATTGCAGTTACAGTTTTCAGGGGTCGTTTAGCAGGGATGATGGTAACAGTATAGGAGAATGAGACTTAAAATTCTATCAACCTTTATTCCTAATATTTCCCTCAGGATAGAACTGGAGGAACCTCCACTTGTTTTGGCTGCTGCAAATGTGGTGAGAAATATCAGCTATAAATATCGAGAGGACTTGTCTGCACATCTCATGGTAGCTGGCTGGGACCAACGTGAAGGAGGTCAGGTGAGTTTCTCCCAAAGCACTCTCTCCTCTGGGCTTCCCCACTCTCCTGCAGAGGAAGATGGAAGTCCTATGTCATTCTAGCAATGAGTTCCAAGGACACTACCTCTGAAAGCATAGTACTTTGGGGATATGAGATACCAGGGCTTCATTGCAGGGTGCAGAGACCACTTAATGTCTCAGTGGGAAGGAAGGGCTTGATGATTCTTTAACCTGAGGATCCCTTTCCCAGGTATATGGAACCCTGGGAGGAATGCTGACTCGACAGCCTTTTGCCATTGGTGGCTCCGGCAGCACCTTTATCTATGGTTATGTGGATGCAGCATATAAGCCAGGCATGTCTCCCGAGGAGTGCAGGCGCTTCACCACAGACGGTAACCAGCCAAGTGGAAGGGTACCTGGGGAGGGCTTTGAAACATGGGAAGGAAGTAGATTATGAGGAACAGGAAGAGAAATACAGGGGTGGCCATTTAAGTTAATGCCGGGCCTGGTACACTTTTAAGAGTGAAAAGGGGCAGGACAAATGCAAAGCTCAATGGGGTTCTTGGGCAATACGGATAAACCAGGGCTGTTCTGAGTAAATCAAATGAGGATACACAGTCACTGTGAGAACCAGTGGTGTGCTAAGCACAGTGGCTCACACCTGTAATGCCAACAATTTGGGAGGCTGAGGCAGGAGGATTACTTGAGCCCAGGAGTTTGAGGCCAGCCTAGGCAAGATGGTGAAACCCTGTCTCCACAAAAAACAATAAAAAAAAGTAAAAAAAAAAATGAACTGGGCATAGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGAAAGATCATCTGAGCCGGGGAGATCAAGGCTGTAGTGAGCGGTGATTGCACCACTGCGCTGCAGCCTAGGTGACAGAGAGAGACCCTGTCTGGAGAAAAAAAAAAAAAAAAAGAACCAGTGGTGTGCTGAGGTGTGCTGAGGCTGGCTTGGGACCACTCATGAGAGCGGACTGTTAAATAGTCAAGGATTTGTGAACTGCTTAGCTATTTGTAACTTGCAATTCATCATAGCGGGAGCATTTACACCACGGACATCAGCAGATGCCACATATGGAAGCCTTTTTGTAAAAAAACTGATTTACCAGCACACCACTAAATATGCCTTCCTGGAAGATGAGTTTTGAGGTGAAAGTGGTAGTAGGCATATGGATGGAGGGGGAGTAAAAAGATTTTTGAAGCTAAGCCATCCTCTCTCTCCCTCTCTCCAACTTGAAACCCTCTGCAGCTATTGCTCTGGCCATGAGCCGGGATGGCTCAAGCGGGGGTGTCATCTACCTGGTCACTATTACAGCTGCCGGTGTGGACCATCGAGTCATCTTGGGCAATGAACTGCCAAAATTCTATGATGAGTGAACCTTCCCCAGACTTCTCTTTCTTATTTTGTAATAAACTCTCTAGGGCCAAAACCTGGTATGGTCATTGGGAAATGAGTGCTCAGGGAGATGGAGCTTAGGGGAGGTGGGTGCTTCCCTCCTAGATGTCAGCATACACTCTTTCTTCTTTTGTCCCAGGTCTAAAACATCTTTCCTAGAGAAAACAAAAGGGACTAAACTAGAAATATAAAGAGCCCTATACATGACAGGTGATCACGTACTGAATGATTTTGAAGTAGTACAAACAATAAAAATTCTCATTCCGCATCATCATGCGGTCCATGATGATGAGGCCGCAAGTGAGGTGATGGGACTCTTTCCTTTAAGGCTAAGACTGACAGATAGGCAAGACACCTACACACATGAGAATTAGCTAAGACTATCAGCAAACTCGCATGTAAAAGAATTCCTTTCATAATGCATTCATTCATATTAAAGGGCAATACATGAAAAATGCTTAAATATTTTGGGGCACTTGTGAATTTCAAAGAATAATGACAATAACCAAAAGAAGCTACATTTGTGGCATTGGCTAAATGTTTTATAAATTTTATCTCTTAAAATTCAAACCAAAAAACCCCCTGTATTCACACCTGTAATCCCAGCACTTTGGGAGGTCAAGGCGGGAGGATTGCTTGAGCCCAGGAGTTAGTGACCAGCCTGGGCAACATAGTGAGAACCCCATCTCTACAAAAAAATTTAAAAATTAGTCGGGTGCGGTGGTGCATGCCTGTAGTCCCAGCTGCCTGGGAGGCTGAGTGGGAGGATCGCTTAGGCCTGGGAGTTTGAGGCTACAGTGAGCTGTGATTGCGCCACTGCACTCTAGCGTGGGTGACAGAGAAAGACCCTATCTTAAGAAAAAAAAAAGAAAAGAAAAAGAAAAAACAAACAAAAAAAACACCCAACCCTATATAGGTATTATTATTACTTCTATA
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TGGGGTCTGAATGTGTATGTGACCTGTCCCAGTAGTGTACAGGGATGAGTAAAGGAATAGGGTCTGAGAGGGGGACAGGAGATAGATTTTTGAGGGTCTTCTTTCCATCTGTGCTTAGGGATCAAAAAGATGATTCTGTCAAGCAGATACCTGGTTTCTCATTTACCATATATTGAACTATTTTGTCTCTTCTCCCACTCCTAACCAATTTCCTCACATGCAAAATGAGTATATGGGGTTAGGTCAATATTACTGACATTATGTTCCATAGAACATAACTCTCTCAAGATTGTTAATAGCAAAGAAAATTGATGAGGCATATTTTTCTTACCTTAGCATTTTTTGCTTTGTTATAAAATCTAAGCCTGAAAAATAAGCCTAATTTTGATTAACATCTGCAGTGATTAATAATATCTGAGATGATTATTTGCCTCCTGCTTTAATCCAAGCATTAAACTTCATGCTATTCTCTTGTCAAAGAAATTTGAGAGACATTGAATGATCACCCTCAAAAATTCCTGAGTTCTGGTTGGGTGCAGTGGCTCACATCTATAATCTCAGCACTTTGGGATGCCGAGGTGGGCAGATATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGTTGGGACCTTGTCTCTACTGAAAATACAAACATTAGCTGGGCTTGGTGGTGGGTGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGGGAGGCGAAGTTTGCAGTGAGCCCAAGATTGATCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAACCTGAGTTTTAACTTGGTGACTGTTGACTCCCTCCTGACAGCGAGGCGGTGGTGAACCGAGTGTTTGACAAGCTGTCCCCGCTGCACGAGCGCATCTACTGTGCACTCTCTGGTTCAGCTGCTGATGCCCAAGCCGTGGCCGACATGGCCGCCTACCAGCTGGAGCTCCATGGGTATGAAGCTCTGGAGTTCTGACTCCCCACCCACTAGAGCTCCCCCAACCTGCATGAATCCCTGTACAGTGTGCTGTTCCAGGAGCTGGACACTGGGAAATGGAAAAGTCTTGTTTCGGCTCTTGCTGGCACTTGAATCTGTCAGTTTCTGCATCTGTAAAGTGGAGATAATATAGTACCTCATGAGACGGTTATTTTGAGAACCACATTCTATATGTGAACACAGTTTAAAAGCTGTAAATCACTATCCTGATATAAATAATCAGGAAGAAGGTGATATTGTGACCCACCATAATATCAGGCAGTTACCATACGAGAAATCAAGGTCGTTGGGACGGAAGTAACCTTATCTGCTTTTCCCCATAAGAGCAGGGTCCTTGCAGCCAAAAGAAAGTTATGTGGGTGGGGCTGAGCAAAAGAGTGAGCAATTGAAAGCTTCTTACCAGTTGGTGGTGTGGGACTCTGGTTCCCCTGTACATGTGGGAGGGAGGCTGCAGTTTGAGCTATTGCAGTTACAGTTTTCAGGGGTCGTTTAGCAGGGATGATGGTAACAGTATAGGAGAATGAGACTTAAAATTCTATCAACCTTTATTCCTAATATTTCCCTCAGGATAGAACTGGAGGAACCTCCACTTGTTTTGGCTGCTGCAAATGTGGTGAGAAATATCAGCTATAAATATCGAGAGGACTTGTCTGCACATCTCATGGTAGCTGGCTGGGACCAACGTGAAGGAGGTCAGGTGAGTTTCTCCCAAAGCACTCTCTCCTCTGGGCTTCCCCACTCTCCTGCAGAGGAAGATGGAAGTCCTATGTCATTCTAGCAATGAGTTCCAAGGACACTACCTCTGAAAGCATAGTACTTTGGGGATATGAGATACCAGGGCTTCATTGCAGGGTGCAGAGACCACTTAATGTCTCAGTGGGAAGGAAGGGCTTGATGATTCTTTAACCTGAGGATCCCTTTCCCAGGTATATGGAACCCTGGGAGGAATGCTGACTCGACAGCCTTTTGCCATTGGTGGCTCCGGCAGCACCTTTATCTATGATTATGTGGATGCAGCATATAAGCCAGGCATGTCTCCCGAGGAGTGCAGGCGCTTCACCACAGACGGTAACCAGCCAAGTGGAAGGGTACCTGGGGAGGGCTTTGAAACATGGGAAGGAAGTAGATTATGAGGAACAGGAAGAGAAATACAGGGGTGGCCATTTAAGTTAATGCCGGGCCTGGTACACTTTTAAGAGTGAAAAGGGGCAGGACAAATGCAAAGCTCAATGGGGTTCTTGGGCAATACGGATAAACCAGGGCTGTTCTGAGTAAATCAAATGAGGATACACAGTCACTGTGAGAACCAGTGGTGTGCTAAGCACAGTGGCTCACACCTGTAATGCCAACAATTTGGGAGGCTGAGGCAGGAGGATTACTTGAGCCCAGGAGTTTGAGGCCAGCCTAGGCAAGATGGTGAAACCCTGTCTCCACAAAAAACAATAAAAAAAAGTAAAAAAAAAAATGAACTGGGCATAGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGAAAGATCATCTGAGCCGGGGAGATCAAGGCTGTAGTGAGCGGTGATTGCACCACTGCGCTGCAGCCTAGGTGACAGAGAGAGACCCTGTCTGGAGAAAAAAAAAAAAAAAAAGAACCAGTGGTGTGCTGAGGTGTGCTGAGGCTGGCTTGGGACCACTCATGAGAGCGGACTGTTAAATAGTCAAGGATTTGTGAACTGCTTAGCTATTTGTAACTTGCAATTCATCATAGCGGGAGCATTTACACCACGGACATCAGCAGATGCCACATATGGAAGCCTTTTTGTAAAAAAACTGATTTACCAGCACACCACTAAATATGCCTTCCTGGAAGATGAGTTTTGAGGTGAAAGTGGTAGTAGGCATATGGATGGAGGGGGAGTAAAAAGATTTTTGAAGCTAAGCCATCCTCTCTCTCCCTCTCTCCAACTTGAAACCCTCTGCAGCTATTGCTCTGGCCATGAGCCGGGATGGCTCAAGCGGGGGTGTCATCTACCTGGTCACTATTACAGCTGCCGGTGTGGACCATCGAGTCATCTTGGGCAATGAACTGCCAAAATTCTATGATGAGTGAACCTTCCCCAGACTTCTCTTTCTTATTTTGTAATAAACTCTCTAGGGCCAAAACCTGGTATGGTCATTGGGAAATGAGTGCTCAGGGAGATGGAGCTTAGGGGAGGTGGGTGCTTCCCTCCTAGATGTCAGCATACACTCTTTCTTCTTTTGTCCCAGGTCTAAAACATCTTTCCTAGAGAAAACAAAAGGGACTAAACTAGAAATATAAAGAGCCCTATACATGACAGGTGATCACGTACTGAATGATTTTGAAGTAGTACAAACAATAAAAATTCTCATTCCGCATCATCATGCGGTCCATGATGATGAGGCCGCAAGTGAGGTGATGGGACTCTTTCCTTTAAGGCTAAGACTGACAGATAGGCAAGACACCTACACACATGAGAATTAGCTAAGACTATCAGCAAACTCGCATGTAAAAGAATTCCTTTCATAATGCATTCATTCATATTAAAGGGCAATACATGAAAAATGCTTAAATATTTTGGGGCACTTGTGAATTTCAAAGAATAATGACAATAACCAAAAGAAGCTACATTTGTGGCATTGGCTAAATGTTTTATAAATTTTATCTCTTAAAATTCAAACCAAAAAACCCCCTGTATTCACACCTGTAATCCCAGCACTTTGGGAGGTCAAGGCGGGAGGATTGCTTGAGCCCAGGAGTTAGTGACCAGCCTGGGCAACATAGTGAGAACCCCATCTCTACAAAAAAATTTAAAAATTAGTCGGGTGCGGTGGTGCATGCCTGTAGTCCCAGCTGCCTGGGAGGCTGAGTGGGAGGATCGCTTAGGCCTGGGAGTTTGAGGCTACAGTGAGCTGTGATTGCGCCACTGCACTCTAGCGTGGGTGACAGAGAAAGACCCTATCTTAAGAAAAAAAAAAGAAAAGAAAAAGAAAAAACAAACAAAAAAAACACCCAACCCTATATAGGTATTATTATTACTTCTATA
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Task1_train_10176
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Assess the clinical impact of this variant on gene COL11A2 (collagen type XI alpha 2 chain), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Otospondylomegaepiphyseal dysplasia, autosomal dominant
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CCTCTGAGCACCTTGGCCCCATCAGGGTGACTCAGGATGTACAGACTGGCAGTGTCTATGTGCCCATGCGTGTGTGTTTGCTTCTCCCCCACCGTGTGCCTCTGCTGGGCAGCCATGTGCCAGTCTGTGTACACGTCTGCATTAACCTGTGTGACGCTGGTGTTTGTACCCAAGTGAACCTCACCCGATGGCTTCCATCCTTTCCACCTTCCTCACCGGCTTTTGAGCTCCCTCAGGCATCCCTGACAATCCAGCAGGACGGACTCCTCCCTGCTCCCCCTGGGTGCCCTGCCCAAGGGGTCTTCCCACCTCCTTCCTCCAGCCTGAGTCTGAGATCAGCCCCCAACCCAGCTCTTCCTGTTCCCACCTGGCAGCCATCTCTGAATTCTTTGACATAGGGGCTAGTCTCCGGGCTCAGCTCATCCTCATTGGCCCCACGGAGTCTCAGGGGACCGTCACGGGCTGCTCCAGAGCAGGGGTAGGAGACGTCCTGGTGGGCTGAGACGCTGAGCAGCCGCAGGAAGGTGAGCTGGACCACACCCACTGGGGAGCCCTCTGAGTCCACGTAAGAGAACTGGAAGGAGAGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCTGGCCTCAGAGGGAGACAGAGACGGGCCTCAGGAGCATCTACGGCACCAGGACAGCTGAGCCAGAGTCATGAGCAGGGAATGGCTGGAAGGCAAGGGCTGGGAAAGAAGTGAGGGGCTGAGTGGGAGCCAGGAGACTGGGGGTACACGAAAGGCAAAGTGAGCATCAGAGGACCGGTGAAAAGGAAAAGAAGAAAGAGCTAAGAAGTGGAGAAGGGGTGGCAGGCTCCGGGGGGGGCAACAGCCAGGGGACTGTCACCAAAACCCAGAAACCACTAAGCCCTGAGGGGGTGCACTATGGGGCAGGGGAGGGGCAGCGAGGGGCCAGCTCTCACCTGCGTGACGTCATCCCTAGGCGTCACACAGGTCTCACCCCCTGCTGTGAAGTTGCAGAAAACTCGGAAGGCATCCCGAGCACAGCCCTGGTTGGGGTCGACCCAGTACTCTCCTGTTGGGTGAGGGAGAGGGGAGGTCAGGGCCACCTAGGTCCAGGCTCCAAGATGCTCTTTGCCCCCACATTCCCTCTTCCCTCCCAGCCCTCCCCATCATGCTCTTAGTCTCCTGGTCCTCCTCCCTCCCAGAGCCCTAGAATCTAGCCCTACTGCTGGATTCTACTGCAGCATCCTACTGCTGCAGCCCACTTTCATCACGTGACACCTCTGCCCCCAACAGTAACCCCAGGCCCTCTGACTGGAGGAGGTCCGAGTATGGACAGCCTCATACTGGGACAACATGTGGTTGCAGGCGCTCACACAGATTCATCTGTTCAGGTGCAAACAGGTGTGTGCACGTATGTATGTTTATCTGCTCCTGCAGACACTGGGCTGATAACCAACTGGTACACACTGACCCAGATCAGTTGCTAAAGTATTGGGATACTTCTGACCTGGTTAGTAAATAGCTGCAGTTCCCAGCCCCTCAGCCCTCACCCTTAACCCAACACCTTCACCAAGACTCCCCCAGCATCCATTCTGCTTGTTCAGTACCCATGCTGTTGGGGAGATGTTTGTGCACCCTGAGGCTAGCACTGACCATCGGGAAGCTCTGGGTGGCACAGCTTCAGGTCCTGGCAGGTGCGAGCAGGGCTGTCCTGGGTCCCTGTTGGCCGCCTCATCTGCTCGATCTCCTCCCGCAGGGAGTCGAGTGAGCCAAAGATCTCCTCCAGCCCCCCAGGACTGCCGGGGGCTCCCCCGGTCGGTATGGCCTCATCTTCCTGCATCAGACGGCTTCCATCCACCGAGCGCCGAGTCTTCTTGGGCATCTGAATGGGCAGTGGCTGGATCACCTCGCCTGGGGGACCCTGGGTGCAGGGACAGATGGAGAGGGCAAGAGACAAGGTTGGTGTGAGGGTGAAGTGTGGCAGCAGTGGAGCAGAGGGGTACGGCCCTGGGAGCAGCCCTGACTCCTCACTCACCGGGTGTCCTGGAGGGCCCTGCACACCCTTCTCTCCCTTGGGTCCGCCTGGGCCCTGACAAGGAATAAATCAGGTCATGGAGGGGTCAAGAGGTCAAGCATGGATCAAGGTCACAGAAAGATCAAATCAGCCTCCTGGCTGGAATAAGGGGCTCCTTGGGGGGAGTCTATTTGTCCTGGAGAGACATCATCAAGTCCAGAGGGGGTGGAGCAAAGGTCAGAGCTGAAGGGGGTCACTCACTGTGGCTCCTTTGGCTCCTTTGGGGCCAGCAGGTCCCTGTGAAATGAGGAACAAGAAAGAGACGGTCACTGCAGGGGAAGGACAGGACTCAGAGGAGCGGGGAGGCAAGGTCCCAAGTCCACAGGAGCCTCGGGTTACTACAGGAGGGGCAGTCTTGTGGGAATACTAGGACATTCAGAGCCCTGGAAGTATGGGGAGGAGGTACTGGTGGTGACAGGACAAATGGGGGACCCTGAGGACTATGCTTGTTAGGCTGGTAGTTCCATGGAAGTCGTTGGGAGGCTGTGGGTGGGCAGCAGAGGGGTTTAGGGGATTTTGTGGAGGAACAGAGGCAGTACTCACGGGGAGGCCGGGGGGACCTCCAGGACCAATGGGGCCGGATGCTCCTGGGATACCCTAGGAAGGGTAGTGGCTGGTTCAACTGGGTCCTCCTCCCACACCCTCCTGAGCACCTGCTCGCTTACCCACAGCTGAGTCCCAACTCCAACTCCACCCCTCTCCACCCCACTCTCAACCCCCACAACTTCCGGGACCATGCCCTCTACTCACCATCTCACCCTTCTGCCCAGGGGAGCCCTGAGGCCCAGGAAGTCCCCGATCTCCCTTCTCTCCCTGCTCACCCGGGGGCCCAATCAGTCCAATGAGACCTGGGTGGCCCTAGAGAAGGGTGCAGGCAGTCAAGAGAATGCAAAGAGGAGTCATGTGGATGGGGGAGAAGGGCCAAGAGGACATGGAGAGGGAGCCGGGCACAGGGTCCGTGAGTGGCCCTCACTGAGCAGGGACTCCCTGGGACTGGCTGCCGGAGGCCTGAAGCAGAGCAGTGGGCACTTGGGTCCCACAGGTTTCAGGGGCGAGGGTGATGGGAGAGACACCTGGCCACGTGTCTGTCTGTCACTCACCTTCTCTCCCTTGGCTCCAGCATCGCCCCGGAGACCAGGCAGCCCTGGGGGTCCCTGTGGAGAGATGGGAAGTCATTCTCTTAAGGGAGAGGTGGGACCAAGTTCTCCCCAACAGCCTCCACTTCCTCCAGGGCTTCAGCTCTGTCCCAGGGCACTGCCCTCACCCCTCACTCAGCCCAATCCCAGTCACTCACCACAGGACCTGGGGGCCCAGCCTGGCCTGTAGCTCCAGGTCGGCCTTGCTGACCCTGAAGATTTGAGGGGGCCACAGGGGTCAGGAGGAGCATCCCCACACTGCACCCCTCCCATGGCCCCTCACTCCCACCCCAGCCCAGCCCTTCCCTGCAGTGACTCACCACTGAGCCTGGGAGCCCCCTCAGACCATCAGGGCCAGGTTTCCCTGCTGGGCCTGCAGGACCCACCGGGCCTGTCTTCCCCGGGGCACCTATAGCGCCAGGATCTCCCTGAAACACACACAAGGAATGTGTCCTGAATGGCAGAGGAGTGGGGTGTGGGCAGGGGGCAGAGGGTCCAAGGTGGGAGGCAGGAGGCAGGGAGGAAGGGCCAAACTCTAGGAGCCCCTAGCGCAGGAACAAGTACAGGGAACGCCTGTCCCCATAAGGGCCCAACATGGGAGAGGTGGAGATGGGGTGGGCATCTGGAGACGGAGGCATCTGAGGGGTGGGAGGCGGAGGGGATGCTCCAGCACTAGGGCAGCCTGTCCCTCACCTTGGCTCCCTTCCCTCCTTGTCGCCCCTCGGAACCAGGCGAGCCAGCAGGACCCTGCAGGTGGAGTGGGAAGGAAGAGCACATGAGGCCGTGGGCAGCCAGGCTCAACTCTTCCCCCTTCCTGTCCTAGACACACACATACACATGCACACACACACGTGCATACACAGGGACACGCGCCGAGGGCCGATTCACAG
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CCTCTGAGCACCTTGGCCCCATCAGGGTGACTCAGGATGTACAGACTGGCAGTGTCTATGTGCCCATGCGTGTGTGTTTGCTTCTCCCCCACCGTGTGCCTCTGCTGGGCAGCCATGTGCCAGTCTGTGTACACGTCTGCATTAACCTGTGTGACGCTGGTGTTTGTACCCAAGTGAACCTCACCCGATGGCTTCCATCCTTTCCACCTTCCTCACCGGCTTTTGAGCTCCCTCAGGCATCCCTGACAATCCAGCAGGACGGACTCCTCCCTGCTCCCCCTGGGTGCCCTGCCCAAGGGGTCTTCCCACCTCCTTCCTCCAGCCTGAGTCTGAGATCAGCCCCCAACCCAGCTCTTCCTGTTCCCACCTGGCAGCCATCTCTGAATTCTTTGACATAGGGGCTAGTCTCCGGGCTCAGCTCATCCTCATTGGCCCCACGGAGTCTCAGGGGACCGTCACGGGCTGCTCCAGAGCAGGGGTAGGAGACGTCCTGGTGGGCTGAGACGCTGAGCAGCCGCAGGAAGGTGAGCTGGACCACACCCACTGGGGAGCCCTCTGAGTCCACGTAAGAGAACTGGAAGGAGAGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCTGGCCTCAGAGGGAGACAGAGACGGGCCTCAGGAGCATCTACGGCACCAGGACAGCTGAGCCAGAGTCATGAGCAGGGAATGGCTGGAAGGCAAGGGCTGGGAAAGAAGTGAGGGGCTGAGTGGGAGCCAGGAGACTGGGGGTACACGAAAGGCAAAGTGAGCATCAGAGGACCGGTGAAAAGGAAAAGAAGAAAGAGCTAAGAAGTGGAGAAGGGGTGGCAGGCTCCGGGGGGGGCAACAGCCAGGGGACTGTCACCAAAACCCAGAAACCACTAAGCCCTGAGGGGGTGCACTATGGGGCAGGGGAGGGGCAGCGAGGGGCCAGCTCTCACCTGCGTGACGTCATCCCTAGGCGTCACACAGGTCTCACCCCCTGCTGTGAAGTTGCAGAAAACTCGGAAGGCATCCCGAGCACAGCCCTGGTTGGGGTCGACCCAGTACTCTCCTGTTGGGTGAGGGAGAGGGGAGGTCAGGGCCACCTAGGTCCAGGCTCCAAGATGCTCTTTGCCCCCACATTCCCTCTTCCCTCCCAGCCCTCCCCATCATGCTCTTAGTCTCCTGGTCCTCCTCCCTCCCAGAGCCCTAGAATCTAGCCCTACTGCTGGATTCTACTGCAGCATCCTACTGCTGCAGCCCACTTTCATCACGTGACACCTCTGCCCCCAACAGTAACCCCAGGCCCTCTGACTGGAGGAGGTCCGAGTATGGACAGCCTCATACTGGGACAACATGTGGTTGCAGGCGCTCACACAGATTCATCTGTTCAGGTGCAAACAGGTGTGTGCACGTATGTATGTTTATCTGCTCCTGCAGACACTGGGCTGATAACCAACTGGTACACACTGACCCAGATCAGTTGCTAAAGTATTGGGATACTTCTGACCTGGTTAGTAAATAGCTGCAGTTCCCAGCCCCTCAGCCCTCACCCTTAACCCAACACCTTCACCAAGACTCCCCCAGCATCCATTCTGCTTGTTCAGTACCCATGCTGTTGGGGAGATGTTTGTGCACCCTGAGGCTAGCACTGACCATCGGGAAGCTCTGGGTGGCACAGCTTCAGGTCCTGGCAGGTGCGAGCAGGGCTGTCCTGGGTCCCTGTTGGCCGCCTCATCTGCTCGATCTCCTCCCGCAGGGAGTCGAGTGAGCCAAAGATCTCCTCCAGCCCCCCAGGACTGCCGGGGGCTCCCCCGGTCGGTATGGCCTCATCTTCCTGCATCAGACGGCTTCCATCCACCGAGCGCCGAGTCTTCTTGGGCATCTGAATGGGCAGTGGCTGGATCACCTCGCCTGGGGGACCCTGGGTGCAGGGACAGATGGAGAGGGCAAGAGACAAGGTTGGTGTGAGGGTGAAGTGTGGCAGCAGTGGAGCAGAGGGGTACGGCCCTGGGAGCAGCCCTGACTCCTCACTCACCGGGTGTCCTGGAGGGCTCTGCACACCCTTCTCTCCCTTGGGTCCGCCTGGGCCCTGACAAGGAATAAATCAGGTCATGGAGGGGTCAAGAGGTCAAGCATGGATCAAGGTCACAGAAAGATCAAATCAGCCTCCTGGCTGGAATAAGGGGCTCCTTGGGGGGAGTCTATTTGTCCTGGAGAGACATCATCAAGTCCAGAGGGGGTGGAGCAAAGGTCAGAGCTGAAGGGGGTCACTCACTGTGGCTCCTTTGGCTCCTTTGGGGCCAGCAGGTCCCTGTGAAATGAGGAACAAGAAAGAGACGGTCACTGCAGGGGAAGGACAGGACTCAGAGGAGCGGGGAGGCAAGGTCCCAAGTCCACAGGAGCCTCGGGTTACTACAGGAGGGGCAGTCTTGTGGGAATACTAGGACATTCAGAGCCCTGGAAGTATGGGGAGGAGGTACTGGTGGTGACAGGACAAATGGGGGACCCTGAGGACTATGCTTGTTAGGCTGGTAGTTCCATGGAAGTCGTTGGGAGGCTGTGGGTGGGCAGCAGAGGGGTTTAGGGGATTTTGTGGAGGAACAGAGGCAGTACTCACGGGGAGGCCGGGGGGACCTCCAGGACCAATGGGGCCGGATGCTCCTGGGATACCCTAGGAAGGGTAGTGGCTGGTTCAACTGGGTCCTCCTCCCACACCCTCCTGAGCACCTGCTCGCTTACCCACAGCTGAGTCCCAACTCCAACTCCACCCCTCTCCACCCCACTCTCAACCCCCACAACTTCCGGGACCATGCCCTCTACTCACCATCTCACCCTTCTGCCCAGGGGAGCCCTGAGGCCCAGGAAGTCCCCGATCTCCCTTCTCTCCCTGCTCACCCGGGGGCCCAATCAGTCCAATGAGACCTGGGTGGCCCTAGAGAAGGGTGCAGGCAGTCAAGAGAATGCAAAGAGGAGTCATGTGGATGGGGGAGAAGGGCCAAGAGGACATGGAGAGGGAGCCGGGCACAGGGTCCGTGAGTGGCCCTCACTGAGCAGGGACTCCCTGGGACTGGCTGCCGGAGGCCTGAAGCAGAGCAGTGGGCACTTGGGTCCCACAGGTTTCAGGGGCGAGGGTGATGGGAGAGACACCTGGCCACGTGTCTGTCTGTCACTCACCTTCTCTCCCTTGGCTCCAGCATCGCCCCGGAGACCAGGCAGCCCTGGGGGTCCCTGTGGAGAGATGGGAAGTCATTCTCTTAAGGGAGAGGTGGGACCAAGTTCTCCCCAACAGCCTCCACTTCCTCCAGGGCTTCAGCTCTGTCCCAGGGCACTGCCCTCACCCCTCACTCAGCCCAATCCCAGTCACTCACCACAGGACCTGGGGGCCCAGCCTGGCCTGTAGCTCCAGGTCGGCCTTGCTGACCCTGAAGATTTGAGGGGGCCACAGGGGTCAGGAGGAGCATCCCCACACTGCACCCCTCCCATGGCCCCTCACTCCCACCCCAGCCCAGCCCTTCCCTGCAGTGACTCACCACTGAGCCTGGGAGCCCCCTCAGACCATCAGGGCCAGGTTTCCCTGCTGGGCCTGCAGGACCCACCGGGCCTGTCTTCCCCGGGGCACCTATAGCGCCAGGATCTCCCTGAAACACACACAAGGAATGTGTCCTGAATGGCAGAGGAGTGGGGTGTGGGCAGGGGGCAGAGGGTCCAAGGTGGGAGGCAGGAGGCAGGGAGGAAGGGCCAAACTCTAGGAGCCCCTAGCGCAGGAACAAGTACAGGGAACGCCTGTCCCCATAAGGGCCCAACATGGGAGAGGTGGAGATGGGGTGGGCATCTGGAGACGGAGGCATCTGAGGGGTGGGAGGCGGAGGGGATGCTCCAGCACTAGGGCAGCCTGTCCCTCACCTTGGCTCCCTTCCCTCCTTGTCGCCCCTCGGAACCAGGCGAGCCAGCAGGACCCTGCAGGTGGAGTGGGAAGGAAGAGCACATGAGGCCGTGGGCAGCCAGGCTCAACTCTTCCCCCTTCCTGTCCTAGACACACACATACACATGCACACACACACGTGCATACACAGGGACACGCGCCGAGGGCCGATTCACAG
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Task1_train_10177
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A variant was discovered on Chromosome 6, affecting COL11A2 (collagen type XI alpha 2 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Otospondylomegaepiphyseal dysplasia, autosomal dominant
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GGACCGGTGAAAAGGAAAAGAAGAAAGAGCTAAGAAGTGGAGAAGGGGTGGCAGGCTCCGGGGGGGGCAACAGCCAGGGGACTGTCACCAAAACCCAGAAACCACTAAGCCCTGAGGGGGTGCACTATGGGGCAGGGGAGGGGCAGCGAGGGGCCAGCTCTCACCTGCGTGACGTCATCCCTAGGCGTCACACAGGTCTCACCCCCTGCTGTGAAGTTGCAGAAAACTCGGAAGGCATCCCGAGCACAGCCCTGGTTGGGGTCGACCCAGTACTCTCCTGTTGGGTGAGGGAGAGGGGAGGTCAGGGCCACCTAGGTCCAGGCTCCAAGATGCTCTTTGCCCCCACATTCCCTCTTCCCTCCCAGCCCTCCCCATCATGCTCTTAGTCTCCTGGTCCTCCTCCCTCCCAGAGCCCTAGAATCTAGCCCTACTGCTGGATTCTACTGCAGCATCCTACTGCTGCAGCCCACTTTCATCACGTGACACCTCTGCCCCCAACAGTAACCCCAGGCCCTCTGACTGGAGGAGGTCCGAGTATGGACAGCCTCATACTGGGACAACATGTGGTTGCAGGCGCTCACACAGATTCATCTGTTCAGGTGCAAACAGGTGTGTGCACGTATGTATGTTTATCTGCTCCTGCAGACACTGGGCTGATAACCAACTGGTACACACTGACCCAGATCAGTTGCTAAAGTATTGGGATACTTCTGACCTGGTTAGTAAATAGCTGCAGTTCCCAGCCCCTCAGCCCTCACCCTTAACCCAACACCTTCACCAAGACTCCCCCAGCATCCATTCTGCTTGTTCAGTACCCATGCTGTTGGGGAGATGTTTGTGCACCCTGAGGCTAGCACTGACCATCGGGAAGCTCTGGGTGGCACAGCTTCAGGTCCTGGCAGGTGCGAGCAGGGCTGTCCTGGGTCCCTGTTGGCCGCCTCATCTGCTCGATCTCCTCCCGCAGGGAGTCGAGTGAGCCAAAGATCTCCTCCAGCCCCCCAGGACTGCCGGGGGCTCCCCCGGTCGGTATGGCCTCATCTTCCTGCATCAGACGGCTTCCATCCACCGAGCGCCGAGTCTTCTTGGGCATCTGAATGGGCAGTGGCTGGATCACCTCGCCTGGGGGACCCTGGGTGCAGGGACAGATGGAGAGGGCAAGAGACAAGGTTGGTGTGAGGGTGAAGTGTGGCAGCAGTGGAGCAGAGGGGTACGGCCCTGGGAGCAGCCCTGACTCCTCACTCACCGGGTGTCCTGGAGGGCCCTGCACACCCTTCTCTCCCTTGGGTCCGCCTGGGCCCTGACAAGGAATAAATCAGGTCATGGAGGGGTCAAGAGGTCAAGCATGGATCAAGGTCACAGAAAGATCAAATCAGCCTCCTGGCTGGAATAAGGGGCTCCTTGGGGGGAGTCTATTTGTCCTGGAGAGACATCATCAAGTCCAGAGGGGGTGGAGCAAAGGTCAGAGCTGAAGGGGGTCACTCACTGTGGCTCCTTTGGCTCCTTTGGGGCCAGCAGGTCCCTGTGAAATGAGGAACAAGAAAGAGACGGTCACTGCAGGGGAAGGACAGGACTCAGAGGAGCGGGGAGGCAAGGTCCCAAGTCCACAGGAGCCTCGGGTTACTACAGGAGGGGCAGTCTTGTGGGAATACTAGGACATTCAGAGCCCTGGAAGTATGGGGAGGAGGTACTGGTGGTGACAGGACAAATGGGGGACCCTGAGGACTATGCTTGTTAGGCTGGTAGTTCCATGGAAGTCGTTGGGAGGCTGTGGGTGGGCAGCAGAGGGGTTTAGGGGATTTTGTGGAGGAACAGAGGCAGTACTCACGGGGAGGCCGGGGGGACCTCCAGGACCAATGGGGCCGGATGCTCCTGGGATACCCTAGGAAGGGTAGTGGCTGGTTCAACTGGGTCCTCCTCCCACACCCTCCTGAGCACCTGCTCGCTTACCCACAGCTGAGTCCCAACTCCAACTCCACCCCTCTCCACCCCACTCTCAACCCCCACAACTTCCGGGACCATGCCCTCTACTCACCATCTCACCCTTCTGCCCAGGGGAGCCCTGAGGCCCAGGAAGTCCCCGATCTCCCTTCTCTCCCTGCTCACCCGGGGGCCCAATCAGTCCAATGAGACCTGGGTGGCCCTAGAGAAGGGTGCAGGCAGTCAAGAGAATGCAAAGAGGAGTCATGTGGATGGGGGAGAAGGGCCAAGAGGACATGGAGAGGGAGCCGGGCACAGGGTCCGTGAGTGGCCCTCACTGAGCAGGGACTCCCTGGGACTGGCTGCCGGAGGCCTGAAGCAGAGCAGTGGGCACTTGGGTCCCACAGGTTTCAGGGGCGAGGGTGATGGGAGAGACACCTGGCCACGTGTCTGTCTGTCACTCACCTTCTCTCCCTTGGCTCCAGCATCGCCCCGGAGACCAGGCAGCCCTGGGGGTCCCTGTGGAGAGATGGGAAGTCATTCTCTTAAGGGAGAGGTGGGACCAAGTTCTCCCCAACAGCCTCCACTTCCTCCAGGGCTTCAGCTCTGTCCCAGGGCACTGCCCTCACCCCTCACTCAGCCCAATCCCAGTCACTCACCACAGGACCTGGGGGCCCAGCCTGGCCTGTAGCTCCAGGTCGGCCTTGCTGACCCTGAAGATTTGAGGGGGCCACAGGGGTCAGGAGGAGCATCCCCACACTGCACCCCTCCCATGGCCCCTCACTCCCACCCCAGCCCAGCCCTTCCCTGCAGTGACTCACCACTGAGCCTGGGAGCCCCCTCAGACCATCAGGGCCAGGTTTCCCTGCTGGGCCTGCAGGACCCACCGGGCCTGTCTTCCCCGGGGCACCTATAGCGCCAGGATCTCCCTGAAACACACACAAGGAATGTGTCCTGAATGGCAGAGGAGTGGGGTGTGGGCAGGGGGCAGAGGGTCCAAGGTGGGAGGCAGGAGGCAGGGAGGAAGGGCCAAACTCTAGGAGCCCCTAGCGCAGGAACAAGTACAGGGAACGCCTGTCCCCATAAGGGCCCAACATGGGAGAGGTGGAGATGGGGTGGGCATCTGGAGACGGAGGCATCTGAGGGGTGGGAGGCGGAGGGGATGCTCCAGCACTAGGGCAGCCTGTCCCTCACCTTGGCTCCCTTCCCTCCTTGTCGCCCCTCGGAACCAGGCGAGCCAGCAGGACCCTGCAGGTGGAGTGGGAAGGAAGAGCACATGAGGCCGTGGGCAGCCAGGCTCAACTCTTCCCCCTTCCTGTCCTAGACACACACATACACATGCACACACACACGTGCATACACAGGGACACGCGCCGAGGGCCGATTCACAGATGTGCAGAACAGATACAGCTGTGACAGTTGTGAAAATACTGGGTAGTCTGTACATTTGGTGAAGGGCCACTTGCCCACACCCTACCTGGTGGCCCGTCTCCTGCCCCAGAAACTAAAAAGGTTCACCCCTGGCCCACAGAAAAGCTGGCCAGCCCCTCCTCCAGTTTCCATTCTGCTTTGTCAGTAACCACCACTACCCCTGGTGAAAACATACACACCAGAACCCAGGAACAAACATGCCCGAGATACCGCACACCCATCAACCCACCAGCTCCTGCACACACACTCGCCCAGTGCAATGAGATACCGCATACCCTTAAACCCACCAGCTCCTGCACACACACCCTGCCCCGGGCAATGAGATACCACACGCCCTTAAACCCACCAGCTCCTGCACACACACACACCCAGGGCAATGCAGACACCAGGCACCTCCCCACCCATCCCACCTGCCATTGCCCAGCCTCCACCCACACAGCCCAGGGACTGCCTCCCAAGGTCTCAGGGGTCCACCTCACTTACTCGCTTTCCAAGTGGCCCTGGGGGTCCATTCTCCCCGGTGGGACCAGGGGATCCCTAGGGAGAGAGGAATTGGGGTGGCTGAGTGTTTATCCTCCAGCCAAGGGACCCCTCAGGAGTGGGGCACAGAAGAGGGGTAAAGAGGATGAGGCTTGGGCTCAGGGGGGTGGTGGGGTCACCAGGCACTCACAGGCTGTCCTGGCTCACCATCCTCGCCTCGGTCACCCTTAGCACCATCCTGGCCCTGCAGAAGTGAAGCAAGGTCAGA
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GGACCGGTGAAAAGGAAAAGAAGAAAGAGCTAAGAAGTGGAGAAGGGGTGGCAGGCTCCGGGGGGGGCAACAGCCAGGGGACTGTCACCAAAACCCAGAAACCACTAAGCCCTGAGGGGGTGCACTATGGGGCAGGGGAGGGGCAGCGAGGGGCCAGCTCTCACCTGCGTGACGTCATCCCTAGGCGTCACACAGGTCTCACCCCCTGCTGTGAAGTTGCAGAAAACTCGGAAGGCATCCCGAGCACAGCCCTGGTTGGGGTCGACCCAGTACTCTCCTGTTGGGTGAGGGAGAGGGGAGGTCAGGGCCACCTAGGTCCAGGCTCCAAGATGCTCTTTGCCCCCACATTCCCTCTTCCCTCCCAGCCCTCCCCATCATGCTCTTAGTCTCCTGGTCCTCCTCCCTCCCAGAGCCCTAGAATCTAGCCCTACTGCTGGATTCTACTGCAGCATCCTACTGCTGCAGCCCACTTTCATCACGTGACACCTCTGCCCCCAACAGTAACCCCAGGCCCTCTGACTGGAGGAGGTCCGAGTATGGACAGCCTCATACTGGGACAACATGTGGTTGCAGGCGCTCACACAGATTCATCTGTTCAGGTGCAAACAGGTGTGTGCACGTATGTATGTTTATCTGCTCCTGCAGACACTGGGCTGATAACCAACTGGTACACACTGACCCAGATCAGTTGCTAAAGTATTGGGATACTTCTGACCTGGTTAGTAAATAGCTGCAGTTCCCAGCCCCTCAGCCCTCACCCTTAACCCAACACCTTCACCAAGACTCCCCCAGCATCCATTCTGCTTGTTCAGTACCCATGCTGTTGGGGAGATGTTTGTGCACCCTGAGGCTAGCACTGACCATCGGGAAGCTCTGGGTGGCACAGCTTCAGGTCCTGGCAGGTGCGAGCAGGGCTGTCCTGGGTCCCTGTTGGCCGCCTCATCTGCTCGATCTCCTCCCGCAGGGAGTCGAGTGAGCCAAAGATCTCCTCCAGCCCCCCAGGACTGCCGGGGGCTCCCCCGGTCGGTATGGCCTCATCTTCCTGCATCAGACGGCTTCCATCCACCGAGCGCCGAGTCTTCTTGGGCATCTGAATGGGCAGTGGCTGGATCACCTCGCCTGGGGGACCCTGGGTGCAGGGACAGATGGAGAGGGCAAGAGACAAGGTTGGTGTGAGGGTGAAGTGTGGCAGCAGTGGAGCAGAGGGGTACGGCCCTGGGAGCAGCCCTGACTCCTCACTCACCGGGTGTCCTGGAGGGCCCTGCACACCCTTCTCTCCCTTGGGTCCGCCTGGGCCCTGACAAGGAATAAATCAGGTCATGGAGGGGTCAAGAGGTCAAGCATGGATCAAGGTCACAGAAAGATCAAATCAGCCTCCTGGCTGGAATAAGGGGCTCCTTGGGGGGAGTCTATTTGTCCTGGAGAGACATCATCAAGTCCAGAGGGGGTGGAGCAAAGGTCAGAGCTGAAGGGGGTCACTCACTGTGGCTCCTTTGGCTCCTTTGGGGCCAGCAGGTCCCTGTGAAATGAGGAACAAGAAAGAGACGGTCACTGCAGGGGAAGGACAGGACTCAGAGGAGCGGGGAGGCAAGGTCCCAAGTCCACAGGAGCCTCGGGTTACTACAGGAGGGGCAGTCTTGTGGGAATACTAGGACATTCAGAGCCCTGGAAGTATGGGGAGGAGGTACTGGTGGTGACAGGACAAATGGGGGACCCTGAGGACTATGCTTGTTAGGCTGGTAGTTCCATGGAAGTCGTTGGGAGGCTGTGGGTGGGCAGCAGAGGGGTTTAGGGGATTTTGTGGAGGAACAGAGGCAGTACTCACGGGGAGGCCGGGGGGACCTCCAGGACCAATGGGGCCGGATGCTCCTGGGATACCCTAGGAAGGGTAGTGGCTGGTTCAACTGGGTCCTCCTCCCACACCCTCCTGAGCACCTGCTCGCTTACCCACAGCTGAGTCCCAACTCCAACTCCACCCCTCTCCACCCCACTCTCAACCCCCACAACTTCCGGGACCATGCCCTCTACTCACCATCTCACCCTTCTGCTCAGGGGAGCCCTGAGGCCCAGGAAGTCCCCGATCTCCCTTCTCTCCCTGCTCACCCGGGGGCCCAATCAGTCCAATGAGACCTGGGTGGCCCTAGAGAAGGGTGCAGGCAGTCAAGAGAATGCAAAGAGGAGTCATGTGGATGGGGGAGAAGGGCCAAGAGGACATGGAGAGGGAGCCGGGCACAGGGTCCGTGAGTGGCCCTCACTGAGCAGGGACTCCCTGGGACTGGCTGCCGGAGGCCTGAAGCAGAGCAGTGGGCACTTGGGTCCCACAGGTTTCAGGGGCGAGGGTGATGGGAGAGACACCTGGCCACGTGTCTGTCTGTCACTCACCTTCTCTCCCTTGGCTCCAGCATCGCCCCGGAGACCAGGCAGCCCTGGGGGTCCCTGTGGAGAGATGGGAAGTCATTCTCTTAAGGGAGAGGTGGGACCAAGTTCTCCCCAACAGCCTCCACTTCCTCCAGGGCTTCAGCTCTGTCCCAGGGCACTGCCCTCACCCCTCACTCAGCCCAATCCCAGTCACTCACCACAGGACCTGGGGGCCCAGCCTGGCCTGTAGCTCCAGGTCGGCCTTGCTGACCCTGAAGATTTGAGGGGGCCACAGGGGTCAGGAGGAGCATCCCCACACTGCACCCCTCCCATGGCCCCTCACTCCCACCCCAGCCCAGCCCTTCCCTGCAGTGACTCACCACTGAGCCTGGGAGCCCCCTCAGACCATCAGGGCCAGGTTTCCCTGCTGGGCCTGCAGGACCCACCGGGCCTGTCTTCCCCGGGGCACCTATAGCGCCAGGATCTCCCTGAAACACACACAAGGAATGTGTCCTGAATGGCAGAGGAGTGGGGTGTGGGCAGGGGGCAGAGGGTCCAAGGTGGGAGGCAGGAGGCAGGGAGGAAGGGCCAAACTCTAGGAGCCCCTAGCGCAGGAACAAGTACAGGGAACGCCTGTCCCCATAAGGGCCCAACATGGGAGAGGTGGAGATGGGGTGGGCATCTGGAGACGGAGGCATCTGAGGGGTGGGAGGCGGAGGGGATGCTCCAGCACTAGGGCAGCCTGTCCCTCACCTTGGCTCCCTTCCCTCCTTGTCGCCCCTCGGAACCAGGCGAGCCAGCAGGACCCTGCAGGTGGAGTGGGAAGGAAGAGCACATGAGGCCGTGGGCAGCCAGGCTCAACTCTTCCCCCTTCCTGTCCTAGACACACACATACACATGCACACACACACGTGCATACACAGGGACACGCGCCGAGGGCCGATTCACAGATGTGCAGAACAGATACAGCTGTGACAGTTGTGAAAATACTGGGTAGTCTGTACATTTGGTGAAGGGCCACTTGCCCACACCCTACCTGGTGGCCCGTCTCCTGCCCCAGAAACTAAAAAGGTTCACCCCTGGCCCACAGAAAAGCTGGCCAGCCCCTCCTCCAGTTTCCATTCTGCTTTGTCAGTAACCACCACTACCCCTGGTGAAAACATACACACCAGAACCCAGGAACAAACATGCCCGAGATACCGCACACCCATCAACCCACCAGCTCCTGCACACACACTCGCCCAGTGCAATGAGATACCGCATACCCTTAAACCCACCAGCTCCTGCACACACACCCTGCCCCGGGCAATGAGATACCACACGCCCTTAAACCCACCAGCTCCTGCACACACACACACCCAGGGCAATGCAGACACCAGGCACCTCCCCACCCATCCCACCTGCCATTGCCCAGCCTCCACCCACACAGCCCAGGGACTGCCTCCCAAGGTCTCAGGGGTCCACCTCACTTACTCGCTTTCCAAGTGGCCCTGGGGGTCCATTCTCCCCGGTGGGACCAGGGGATCCCTAGGGAGAGAGGAATTGGGGTGGCTGAGTGTTTATCCTCCAGCCAAGGGACCCCTCAGGAGTGGGGCACAGAAGAGGGGTAAAGAGGATGAGGCTTGGGCTCAGGGGGGTGGTGGGGTCACCAGGCACTCACAGGCTGTCCTGGCTCACCATCCTCGCCTCGGTCACCCTTAGCACCATCCTGGCCCTGCAGAAGTGAAGCAAGGTCAGA
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Task1_train_10178
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An alteration has been detected in COL11A2 (collagen type XI alpha 2 chain) on Chromosome 6. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 53
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CCATCCTCTCCAGCCACACCTGGAGGCCCAGCAGGACCAGGAAGCCCCACAGGACCCTGCACTCCATCTCGGCCAGTCGGGCCAATGGGGCCCTTCTCACCCTGTGGGACAGGAGGAAGGAGTCATGGCCTGGAGGTGACCCTCACCCTCAAACACCCCACAGGAAACTTGTCATAGCCCATCAACCCTAGGCTCACAGACCCCTCCCCAGTACCCCTCCCCAATACCCCCACACTCACTGGGACACCTTTCTCTCCTGCTGCTCCAGGGGGACCCTGCGGGCCTGGGCGCCCTGGCGGACCAATGGGTCCCCCTGATCCTGCTGCACCTCGTTCCCCAGGGGAGCCCTGAGAAAGCAGATGGTCAGACCCCCAGGAAGGAGACACCAGCCCGCCCATACCAGAGAACCTCAGACCACAATTCCCAAAAGCTCCCAAAATCAGATGCATTCTGGCTGTCCCTGGACAGCCTCTGCCCAGCCCCACAGCCCCTGGTGGTATCAGAATGCCACTCCCACCCTTCCTCACCCACCCCTTTCCCGGGTCCTTCCTACCACTTCCGGAACCCCAGACTCACTGCAGGGCCAGGGGGGCCAGACGGACCTTCATTCCCCTTCAAACCAGGTCCACCCTATGAACCAGACATTTGGGGAAGATGAGACTTCACGAAAAGAGAAGGGTGAGAGCTGGAGAGGGAAGACAGGCTCCAAAAGATGGAAGTGGGGAGTGACATGGAGGGGGTCAGGGACAGGGTCGGGGTGGGGACTCAGGATGCTTGGTGCTTGTGACAGGCAGGGGTCTGGGAGTCACACTCACAGCAGTGCCTGGGAGGCCTCTCTCTCCTGGGAATCCCCTCAGACCAGCAGGACCATCCTTCCCTGGGGCCCCAGGGGGACCAGGGTCACCCTAAAAGGAAAGGAGAGGTGATGAGCCACAGCCATGCTCCCAAATTAAACAGAGAGCTCTCCAGCCCCCCCTCAAATCTCCAACTACCTGTTCCTTTCAGCACCCCAATCCCCAGCTCCCCCACTTCCCCTCTGCCTGGCCCCTCACTGACCTTTGTTCCTTCTTTTCCAGCTGTCCCAGGTAGTCCCTGCTCTCCAGGGGGCCCCGGGGGGCCTGGGTGACCTCTCTCCCCCATAGGGCCGGTTTCTCCTGCTGCTCCCTAGACAAAAGCAGAGAGAGTTCCTGCTCTCAGGCCCTTCATCTCGCTGTCTGCCAGAAGAGCCCACCCTGGCCACCCTAAAACACTCCTTCAGAACCCCTTTATCCCTGCCCCAAAGCTCCTGGGAAATTCCCCGGCATTCCTGGGCCACTGCTGGGTTTTCTCCTGCCCCATGTGGAGTAACTACACCACCTTGTGTCTCTGTTGGGGAACTGCCTCTCCTGGGGGACAAGACGATGAGAATGCGCCCCAAAACAGACTGAAGTTCAGGACCCCTGCCTGAAATCCCAGCCCCCACCATTGACCCCAGCCCCAGGAGTCTGGGTCAGGTGGACCGGGGCAGGGGCGTGTGACCGAGAGAAGAGGGGCAGACAGACTAATGCTAGGGTCAGGGGTCCATTCTCTCCTAGGGACAAACCTACCTGAGGTCCCACCACTCCTGGAGGACCAGGGGGGCCGGTCTTCCCTTGGAAACCCTAGGCGAGGAAGAGAGGAGAATGCAGTGAAAGCAGGTGTGGGCGCTGTGGGGCAGATTCCCAGGAGGAAGGATCCCAGGCAGGATCACACCAAGCCCTGGGCCCTGGGTCTGAGCAGCACCAGGGCAGGCTCCACTCTGCCAGGAGAACGTCCCTGTGGGCTTTCCAGACAGCTCTGGGGTTAAAGGGTCTGATGGAGCCCCCTGAGAATGGGTAGCCAGGAGCATCACTCACCACTTCTCCTCTTTGGCCTGGGTGTCCCGGCAGCCCATCCTTCCCAGGGGGGCCCTGGAAGGGGTTCAGTTGTCAGGTGAACTCTCAGCTGGAAAGCAGGTAGGGAAGAAGGACTCAGAGAAGCGAGGTGGGTCAGAGCTCGGGGTCAACTTACCGGGGGTCCTTTCGGTCCAGGAAACCCGTTGGGACCCTGAGGTCCAGGGAGGCCCTAGAGACAGAGGTGGGGGGAGTCAGGAGAATGGGGGCAGGGGCTGAGTGGGGGAACTCAGCTTCCTTCCTGGGGTGAGGAGGGAGCTGGCTCACCCAGGCTCCCTGGGGACCTCAGGGGAAGGGGACTTTCGATCCACACTCACCCTCTCTCCAGGGGGCCCATGGGGGCCATCACCACCAGATGTTCCCTGTGGGGGGAAACAGAGTCAAGGAGTGGGAAGAGCTGCTTTCCAGCTGTCCCCGAGGTCAGGATGTTGAGGGAGAGCTGGGGCTGAGTGGGCAGGGGGCAGTTGGAGCCTTGTAGAGACCATTCACCTTAGCTCCAGACTTCCCAGTGGCACCTCGGGGTCCCCGCTGACCCCGTGGACCCTACAGAGGGAAGAGGAGTTGTCAGAGAAACCCAAATGCCCCCCTCTGGACCTTGAGCCACCTGTTTCTCTCCCCTGCACTCACCGTGGGGCCCCGTTCTCCCCGAGGCCCTGACTTCCCCGACAGGCCCTGGTGGGAATGAAGCAGAGAGAACATTACCCAGGGTGAGACTCCCCACAGACCCCCTCTACACCTCTCCAGCCCTTCCCTTCTCACGCCCTCCCACCCCCCAGCTTACCCGGGCTCCCTTCTCTCCACTGGCACCAGGAAAGCCAGGAAATCCTAGGGACCCCTGGTGAGAACGGAGAAGGGGGGAAATTGAGAAGTTATGAAAGGTAGGGTTCAGGAAGGGGCAAAGGGGGTCAGGAGAGGCCACAAAGGCAGTGGCCAGGGAGACCCGAGCTCTGCCAAGAACTAAGTGGCCTTGGACAAACCCCTGCTGCTCTCTGGGCCTCTTTCGGTCATCTGTAAAATGGGGGTCAGCTAAATTCCCTCTGGGGTCCCCCACTGCCCTGCATCTGTGCTTTCTGGAATCAGGGATCAGGGAAGCGAAGAGGAGGAGGGAAGAGGAGGAGGGGCACGTATGGGGCATGGCATCACCTTGGGTCCCTGACGTCCAGGATAGCCAGGCAGACCAGGAACACCCAGCTTGCCCTGTGGAGGGACAGGAAGCAGTTAGGAGTGAGAGGAGGCCCAGATGCCACTCCACCCCTGGAGACCTCAACCCTCACATATAACAGCCAGCCCCCACCCAGCAACACACCCCACACACCCCAGCCTCTAGCCCCTCATTGCTTGCCCCACAGCTGCCTGACTTTTGTTGTCTCTCCTTCCCGTGAGTGGATTTTCCCCAATTCTAGTGCTGGGATCCCACCTCCCCTGCGCCTACAGAGGTATCAGGTCCTTCAGGGTCACTGTGATCTAGCTGCTTCCCACATGTCAACCTCAGCTCCATCTACCCCATGAGGGAGGTGGGATCTACCCCAGCACCCACTCCTGCTTCACCAAGACCAATCCCCCTGCAGGCCCTTTGCCCACCACACCCCGACTCCCGTGCATGCCCCCTTCCCCAGAGGCTCCAGGGCTCATCCTGCCCAGGCAGCTGCAGAGCAGGGCTTAGAAGCAGAGATTCTGAAGCCAGACTGCCTGGGCATAACCCCTGGCTCTGCCCTTCACTGGCCATGTAATCAACAAGCATCCCTGTGCCTCTGTAAAACCTCAGCAAAACAGTACGTCACATGCCTACCTCATAGGATAGATAGGACGCATCAGCACAGCACCTGGCACAGGGCAAGTGCTGGGGAGAGTCAGCTCTGGAGACCACAGACCTCACTGCTATTAGACTCTCTCATCTCAGAACTCCTGCTGCTTGGAGTCCGAACGCATGTTCACTCTGCCTTGAAGCAACAGCTACTCTCTAAGCTTCGTCTCCGTCCAACTCTTCGTGTCAGGGACTTTTCCCTGACTTCTTATATATCCCCTCTGCCCATCAGCAGCTGAGAGATGCCATTTACACAGACAGAAGTATGACTAATGCATGGCCATCTTCAACTGACTGGCTGACTTCAGCGGCGGGCACCCATGCCCATCCTGACCCCAGTGCCCACACCCCCAGAGGACCCAGGCACAGAACCCTCATCCCA
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CCATCCTCTCCAGCCACACCTGGAGGCCCAGCAGGACCAGGAAGCCCCACAGGACCCTGCACTCCATCTCGGCCAGTCGGGCCAATGGGGCCCTTCTCACCCTGTGGGACAGGAGGAAGGAGTCATGGCCTGGAGGTGACCCTCACCCTCAAACACCCCACAGGAAACTTGTCATAGCCCATCAACCCTAGGCTCACAGACCCCTCCCCAGTACCCCTCCCCAATACCCCCACACTCACTGGGACACCTTTCTCTCCTGCTGCTCCAGGGGGACCCTGCGGGCCTGGGCGCCCTGGCGGACCAATGGGTCCCCCTGATCCTGCTGCACCTCGTTCCCCAGGGGAGCCCTGAGAAAGCAGATGGTCAGACCCCCAGGAAGGAGACACCAGCCCGCCCATACCAGAGAACCTCAGACCACAATTCCCAAAAGCTCCCAAAATCAGATGCATTCTGGCTGTCCCTGGACAGCCTCTGCCCAGCCCCACAGCCCCTGGTGGTATCAGAATGCCACTCCCACCCTTCCTCACCCACCCCTTTCCCGGGTCCTTCCTACCACTTCCGGAACCCCAGACTCACTGCAGGGCCAGGGGGGCCAGACGGACCTTCATTCCCCTTCAAACCAGGTCCACCCTATGAACCAGACATTTGGGGAAGATGAGACTTCACGAAAAGAGAAGGGTGAGAGCTGGAGAGGGAAGACAGGCTCCAAAAGATGGAAGTGGGGAGTGACATGGAGGGGGTCAGGGACAGGGTCGGGGTGGGGACTCAGGATGCTTGGTGCTTGTGACAGGCAGGGGTCTGGGAGTCACACTCACAGCAGTGCCTGGGAGGCCTCTCTCTCCTGGGAATCCCCTCAGACCAGCAGGACCATCCTTCCCTGGGGCCCCAGGGGGACCAGGGTCACCCTAAAAGGAAAGGAGAGGTGATGAGCCACAGCCATGCTCCCAAATTAAACAGAGAGCTCTCCAGCCCCCCCTCAAATCTCCAACTACCTGTTCCTTTCAGCACCCCAATCCCCAGCTCCCCCACTTCCCCTCTGCCTGGCCCCTCACTGACCTTTGTTCCTTCTTTTCCAGCTGTCCCAGGTAGTCCCTGCTCTCCAGGGGGCCCCGGGGGGCCTGGGTGACCTCTCTCCCCCATAGGGCCGGTTTCTCCTGCTGCTCCCTAGACAAAAGCAGAGAGAGTTCCTGCTCTCAGGCCCTTCATCTCGCTGTCTGCCAGAAGAGCCCACCCTGGCCACCCTAAAACACTCCTTCAGAACCCCTTTATCCCTGCCCCAAAGCTCCTGGGAAATTCCCCGGCATTCCTGGGCCACTGCTGGGTTTTCTCCTGCCCCATGTGGAGTAACTACACCACCTTGTGTCTCTGTTGGGGAACTGCCTCTCCTGGGGGACAAGACGATGAGAATGCGCCCCAAAACAGACTGAAGTTCAGGACCCCTGCCTGAAATCCCAGCCCCCACCATTGACCCCAGCCCCAGGAGTCTGGGTCAGGTGGACCGGGGCAGGGGCGTGTGACCGAGAGAAGAGGGGCAGACAGACTAATGCTAGGGTCAGGGGTCCATTCTCTCCTAGGGACAAACCTACCTGAGGTCCCACCACTCCTGGAGGACCAGGGGGGCCGGTCTTCCCTTGGAAACCCTAGGCGAGGAAGAGAGGAGAATGCAGTGAAAGCAGGTGTGGGCGCTGTGGGGCAGATTCCCAGGAGGAAGGATCCCAGGCAGGATCACACCAAGCCCTGGGCCCTGGGTCTGAGCAGCACCAGGGCAGGCTCCACTCTGCCAGGAGAACGTCCCTGTGGGCTTTCCAGACAGCTCTGGGGTTAAAGGGTCTGATGGAGCCCCCTGAGAATGGGTAGCCAGGAGCATCACTCACCACTTCTCCTCTTTGGCCTGGGTGTCCCGGCAGCCCATCCTTCCCAGGGGGGCCCTGGAAGGGGTTCAGTTGTCAGGTGAACTCTCAGCTGGAAAGCAGGTAGGGAAGAAGGACTCAGAGAAGCGAGGTGGGTCAGAGCTCGGGGTCAACTTACCGGGGGTCCTTTCGGTCCAGTAAACCCGTTGGGACCCTGAGGTCCAGGGAGGCCCTAGAGACAGAGGTGGGGGGAGTCAGGAGAATGGGGGCAGGGGCTGAGTGGGGGAACTCAGCTTCCTTCCTGGGGTGAGGAGGGAGCTGGCTCACCCAGGCTCCCTGGGGACCTCAGGGGAAGGGGACTTTCGATCCACACTCACCCTCTCTCCAGGGGGCCCATGGGGGCCATCACCACCAGATGTTCCCTGTGGGGGGAAACAGAGTCAAGGAGTGGGAAGAGCTGCTTTCCAGCTGTCCCCGAGGTCAGGATGTTGAGGGAGAGCTGGGGCTGAGTGGGCAGGGGGCAGTTGGAGCCTTGTAGAGACCATTCACCTTAGCTCCAGACTTCCCAGTGGCACCTCGGGGTCCCCGCTGACCCCGTGGACCCTACAGAGGGAAGAGGAGTTGTCAGAGAAACCCAAATGCCCCCCTCTGGACCTTGAGCCACCTGTTTCTCTCCCCTGCACTCACCGTGGGGCCCCGTTCTCCCCGAGGCCCTGACTTCCCCGACAGGCCCTGGTGGGAATGAAGCAGAGAGAACATTACCCAGGGTGAGACTCCCCACAGACCCCCTCTACACCTCTCCAGCCCTTCCCTTCTCACGCCCTCCCACCCCCCAGCTTACCCGGGCTCCCTTCTCTCCACTGGCACCAGGAAAGCCAGGAAATCCTAGGGACCCCTGGTGAGAACGGAGAAGGGGGGAAATTGAGAAGTTATGAAAGGTAGGGTTCAGGAAGGGGCAAAGGGGGTCAGGAGAGGCCACAAAGGCAGTGGCCAGGGAGACCCGAGCTCTGCCAAGAACTAAGTGGCCTTGGACAAACCCCTGCTGCTCTCTGGGCCTCTTTCGGTCATCTGTAAAATGGGGGTCAGCTAAATTCCCTCTGGGGTCCCCCACTGCCCTGCATCTGTGCTTTCTGGAATCAGGGATCAGGGAAGCGAAGAGGAGGAGGGAAGAGGAGGAGGGGCACGTATGGGGCATGGCATCACCTTGGGTCCCTGACGTCCAGGATAGCCAGGCAGACCAGGAACACCCAGCTTGCCCTGTGGAGGGACAGGAAGCAGTTAGGAGTGAGAGGAGGCCCAGATGCCACTCCACCCCTGGAGACCTCAACCCTCACATATAACAGCCAGCCCCCACCCAGCAACACACCCCACACACCCCAGCCTCTAGCCCCTCATTGCTTGCCCCACAGCTGCCTGACTTTTGTTGTCTCTCCTTCCCGTGAGTGGATTTTCCCCAATTCTAGTGCTGGGATCCCACCTCCCCTGCGCCTACAGAGGTATCAGGTCCTTCAGGGTCACTGTGATCTAGCTGCTTCCCACATGTCAACCTCAGCTCCATCTACCCCATGAGGGAGGTGGGATCTACCCCAGCACCCACTCCTGCTTCACCAAGACCAATCCCCCTGCAGGCCCTTTGCCCACCACACCCCGACTCCCGTGCATGCCCCCTTCCCCAGAGGCTCCAGGGCTCATCCTGCCCAGGCAGCTGCAGAGCAGGGCTTAGAAGCAGAGATTCTGAAGCCAGACTGCCTGGGCATAACCCCTGGCTCTGCCCTTCACTGGCCATGTAATCAACAAGCATCCCTGTGCCTCTGTAAAACCTCAGCAAAACAGTACGTCACATGCCTACCTCATAGGATAGATAGGACGCATCAGCACAGCACCTGGCACAGGGCAAGTGCTGGGGAGAGTCAGCTCTGGAGACCACAGACCTCACTGCTATTAGACTCTCTCATCTCAGAACTCCTGCTGCTTGGAGTCCGAACGCATGTTCACTCTGCCTTGAAGCAACAGCTACTCTCTAAGCTTCGTCTCCGTCCAACTCTTCGTGTCAGGGACTTTTCCCTGACTTCTTATATATCCCCTCTGCCCATCAGCAGCTGAGAGATGCCATTTACACAGACAGAAGTATGACTAATGCATGGCCATCTTCAACTGACTGGCTGACTTCAGCGGCGGGCACCCATGCCCATCCTGACCCCAGTGCCCACACCCCCAGAGGACCCAGGCACAGAACCCTCATCCCA
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Task1_train_10179
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A variant was discovered in gene COL11A2 (collagen type XI alpha 2 chain), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 13
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ATCCCCAGCTCCCCCACTTCCCCTCTGCCTGGCCCCTCACTGACCTTTGTTCCTTCTTTTCCAGCTGTCCCAGGTAGTCCCTGCTCTCCAGGGGGCCCCGGGGGGCCTGGGTGACCTCTCTCCCCCATAGGGCCGGTTTCTCCTGCTGCTCCCTAGACAAAAGCAGAGAGAGTTCCTGCTCTCAGGCCCTTCATCTCGCTGTCTGCCAGAAGAGCCCACCCTGGCCACCCTAAAACACTCCTTCAGAACCCCTTTATCCCTGCCCCAAAGCTCCTGGGAAATTCCCCGGCATTCCTGGGCCACTGCTGGGTTTTCTCCTGCCCCATGTGGAGTAACTACACCACCTTGTGTCTCTGTTGGGGAACTGCCTCTCCTGGGGGACAAGACGATGAGAATGCGCCCCAAAACAGACTGAAGTTCAGGACCCCTGCCTGAAATCCCAGCCCCCACCATTGACCCCAGCCCCAGGAGTCTGGGTCAGGTGGACCGGGGCAGGGGCGTGTGACCGAGAGAAGAGGGGCAGACAGACTAATGCTAGGGTCAGGGGTCCATTCTCTCCTAGGGACAAACCTACCTGAGGTCCCACCACTCCTGGAGGACCAGGGGGGCCGGTCTTCCCTTGGAAACCCTAGGCGAGGAAGAGAGGAGAATGCAGTGAAAGCAGGTGTGGGCGCTGTGGGGCAGATTCCCAGGAGGAAGGATCCCAGGCAGGATCACACCAAGCCCTGGGCCCTGGGTCTGAGCAGCACCAGGGCAGGCTCCACTCTGCCAGGAGAACGTCCCTGTGGGCTTTCCAGACAGCTCTGGGGTTAAAGGGTCTGATGGAGCCCCCTGAGAATGGGTAGCCAGGAGCATCACTCACCACTTCTCCTCTTTGGCCTGGGTGTCCCGGCAGCCCATCCTTCCCAGGGGGGCCCTGGAAGGGGTTCAGTTGTCAGGTGAACTCTCAGCTGGAAAGCAGGTAGGGAAGAAGGACTCAGAGAAGCGAGGTGGGTCAGAGCTCGGGGTCAACTTACCGGGGGTCCTTTCGGTCCAGGAAACCCGTTGGGACCCTGAGGTCCAGGGAGGCCCTAGAGACAGAGGTGGGGGGAGTCAGGAGAATGGGGGCAGGGGCTGAGTGGGGGAACTCAGCTTCCTTCCTGGGGTGAGGAGGGAGCTGGCTCACCCAGGCTCCCTGGGGACCTCAGGGGAAGGGGACTTTCGATCCACACTCACCCTCTCTCCAGGGGGCCCATGGGGGCCATCACCACCAGATGTTCCCTGTGGGGGGAAACAGAGTCAAGGAGTGGGAAGAGCTGCTTTCCAGCTGTCCCCGAGGTCAGGATGTTGAGGGAGAGCTGGGGCTGAGTGGGCAGGGGGCAGTTGGAGCCTTGTAGAGACCATTCACCTTAGCTCCAGACTTCCCAGTGGCACCTCGGGGTCCCCGCTGACCCCGTGGACCCTACAGAGGGAAGAGGAGTTGTCAGAGAAACCCAAATGCCCCCCTCTGGACCTTGAGCCACCTGTTTCTCTCCCCTGCACTCACCGTGGGGCCCCGTTCTCCCCGAGGCCCTGACTTCCCCGACAGGCCCTGGTGGGAATGAAGCAGAGAGAACATTACCCAGGGTGAGACTCCCCACAGACCCCCTCTACACCTCTCCAGCCCTTCCCTTCTCACGCCCTCCCACCCCCCAGCTTACCCGGGCTCCCTTCTCTCCACTGGCACCAGGAAAGCCAGGAAATCCTAGGGACCCCTGGTGAGAACGGAGAAGGGGGGAAATTGAGAAGTTATGAAAGGTAGGGTTCAGGAAGGGGCAAAGGGGGTCAGGAGAGGCCACAAAGGCAGTGGCCAGGGAGACCCGAGCTCTGCCAAGAACTAAGTGGCCTTGGACAAACCCCTGCTGCTCTCTGGGCCTCTTTCGGTCATCTGTAAAATGGGGGTCAGCTAAATTCCCTCTGGGGTCCCCCACTGCCCTGCATCTGTGCTTTCTGGAATCAGGGATCAGGGAAGCGAAGAGGAGGAGGGAAGAGGAGGAGGGGCACGTATGGGGCATGGCATCACCTTGGGTCCCTGACGTCCAGGATAGCCAGGCAGACCAGGAACACCCAGCTTGCCCTGTGGAGGGACAGGAAGCAGTTAGGAGTGAGAGGAGGCCCAGATGCCACTCCACCCCTGGAGACCTCAACCCTCACATATAACAGCCAGCCCCCACCCAGCAACACACCCCACACACCCCAGCCTCTAGCCCCTCATTGCTTGCCCCACAGCTGCCTGACTTTTGTTGTCTCTCCTTCCCGTGAGTGGATTTTCCCCAATTCTAGTGCTGGGATCCCACCTCCCCTGCGCCTACAGAGGTATCAGGTCCTTCAGGGTCACTGTGATCTAGCTGCTTCCCACATGTCAACCTCAGCTCCATCTACCCCATGAGGGAGGTGGGATCTACCCCAGCACCCACTCCTGCTTCACCAAGACCAATCCCCCTGCAGGCCCTTTGCCCACCACACCCCGACTCCCGTGCATGCCCCCTTCCCCAGAGGCTCCAGGGCTCATCCTGCCCAGGCAGCTGCAGAGCAGGGCTTAGAAGCAGAGATTCTGAAGCCAGACTGCCTGGGCATAACCCCTGGCTCTGCCCTTCACTGGCCATGTAATCAACAAGCATCCCTGTGCCTCTGTAAAACCTCAGCAAAACAGTACGTCACATGCCTACCTCATAGGATAGATAGGACGCATCAGCACAGCACCTGGCACAGGGCAAGTGCTGGGGAGAGTCAGCTCTGGAGACCACAGACCTCACTGCTATTAGACTCTCTCATCTCAGAACTCCTGCTGCTTGGAGTCCGAACGCATGTTCACTCTGCCTTGAAGCAACAGCTACTCTCTAAGCTTCGTCTCCGTCCAACTCTTCGTGTCAGGGACTTTTCCCTGACTTCTTATATATCCCCTCTGCCCATCAGCAGCTGAGAGATGCCATTTACACAGACAGAAGTATGACTAATGCATGGCCATCTTCAACTGACTGGCTGACTTCAGCGGCGGGCACCCATGCCCATCCTGACCCCAGTGCCCACACCCCCAGAGGACCCAGGCACAGAACCCTCATCCCATCACCTTCTCGCCCATGAGCCCTGGGGGCCCAGGGTCTCCAGTCGGTCCAGTGCGTCCCTTTGGCCCCTCAGGACCATCCTCTCCCCTGGAACCAGGGACTCCAACTTCGCCCTGTGTGAGAGGGAAGGACAGGTGAGTGCTGGGGACTGGAGGTGGGCTCTGGGCCCAGAGGAGAAATGGGCAACAGTGAGGCTGAGGAGGGCTAGAGGGGTCCCAGGAGCCACTGCAGGACAGGAAGCCCACAGGGTAGGGATAGTGTAGTGATGGGAGGGCAGGCATGACACAGACCATGGGGCTATCATCCTGTAGGGGTCAGGCTCCCAAGGGAACACAGCACTGGAACTGTGGAGTCTGGAGACTCAGGAGAATAAACCGGTGCTTGGCGTCTCCAGAGTGGAGGCTCAGTAGAACACGGAATTGGGGCCAGTGTGGGGTCTCTACTCACCCTGTCACCTTTCACGCCTATGTCACCTTTGAACCCAGGAAAGCCATCCTCACCCTGAGAAAGATAGAGGTGAGAGGGCACCACAGATGACAGAGGGCTGGGGTTCTAATGGGAATTCTGAGAACATAGGTGGAAGCAGGGGCTCGGGAGCTGGACGGCAGTGCGGGGCAGGCTGGAGGGAAGGCAGTGAAGAGAGGAGATGGCAGGACTGAGGTGCTGGGAAGCTGGGGGCATGGTGCTCACCTTCTCACCCTTATGACCCTTCAGACCCCGAATTCCGTCCACACCCTAGAATTAGAGAGGGGATAGAAGTAGACTGATCAGGGGATGGAGGTGGGTTGGAAGGACCAAGCTCCTAAGACCCCATATAGCTCCCCTGACCACAGCCCTTTGTCTCCCAGCCTGGTGGTCAGTTACCTTGACCCCTCGAGGTCCTGGGTATCCTAGAGGTCCCTGAGGTCCAGAGGGACCCTGGAAGATAAAAGAGAGGCATTTATAAAGGGGCCTCAGAGTGTCACTGTGGGGGCCTCCAGGGGTGGAAGAAATGGAAGTAACAACATTGCTGT
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ATCCCCAGCTCCCCCACTTCCCCTCTGCCTGGCCCCTCACTGACCTTTGTTCCTTCTTTTCCAGCTGTCCCAGGTAGTCCCTGCTCTCCAGGGGGCCCCGGGGGGCCTGGGTGACCTCTCTCCCCCATAGGGCCGGTTTCTCCTGCTGCTCCCTAGACAAAAGCAGAGAGAGTTCCTGCTCTCAGGCCCTTCATCTCGCTGTCTGCCAGAAGAGCCCACCCTGGCCACCCTAAAACACTCCTTCAGAACCCCTTTATCCCTGCCCCAAAGCTCCTGGGAAATTCCCCGGCATTCCTGGGCCACTGCTGGGTTTTCTCCTGCCCCATGTGGAGTAACTACACCACCTTGTGTCTCTGTTGGGGAACTGCCTCTCCTGGGGGACAAGACGATGAGAATGCGCCCCAAAACAGACTGAAGTTCAGGACCCCTGCCTGAAATCCCAGCCCCCACCATTGACCCCAGCCCCAGGAGTCTGGGTCAGGTGGACCGGGGCAGGGGCGTGTGACCGAGAGAAGAGGGGCAGACAGACTAATGCTAGGGTCAGGGGTCCATTCTCTCCTAGGGACAAACCTACCTGAGGTCCCACCACTCCTGGAGGACCAGGGGGGCCGGTCTTCCCTTGGAAACCCTAGGCGAGGAAGAGAGGAGAATGCAGTGAAAGCAGGTGTGGGCGCTGTGGGGCAGATTCCCAGGAGGAAGGATCCCAGGCAGGATCACACCAAGCCCTGGGCCCTGGGTCTGAGCAGCACCAGGGCAGGCTCCACTCTGCCAGGAGAACGTCCCTGTGGGCTTTCCAGACAGCTCTGGGGTTAAAGGGTCTGATGGAGCCCCCTGAGAATGGGTAGCCAGGAGCATCACTCACCACTTCTCCTCTTTGGCCTGGGTGTCCCGGCAGCCCATCCTTCCCAGGGGGGCCCTGGAAGGGGTTCAGTTGTCAGGTGAACTCTCAGCTGGAAAGCAGGTAGGGAAGAAGGACTCAGAGAAGCGAGGTGGGTCAGAGCTCGGGGTCAACTTACCGGGGGTCCTTTCGGTCCAGGAAACCCGTTGGGACCCTGAGGTCCAGGGAGGCCCTAGAGACAGAGGTGGGGGGAGTCAGGAGAATGGGGGCAGGGGCTGAGTGGGGGAACTCAGCTTCCTTCCTGGGGTGAGGAGGGAGCTGGCTCACCCAGGCTCCCTGGGGACCTCAGGGGAAGGGGACTTTCGATCCACACTCACCCTCTCTCCAGGGGGCCCATGGGGGCCATCACCACCAGATGTTCCCTGTGGGGGGAAACAGAGTCAAGGAGTGGGAAGAGCTGCTTTCCAGCTGTCCCCGAGGTCAGGATGTTGAGGGAGAGCTGGGGCTGAGTGGGCAGGGGGCAGTTGGAGCCTTGTAGAGACCATTCACCTTAGCTCCAGACTTCCCAGTGGCACCTCGGGGTCCCCGCTGACCCCGTGGACCCTACAGAGGGAAGAGGAGTTGTCAGAGAAACCCAAATGCCCCCCTCTGGACCTTGAGCCACCTGTTTCTCTCCCCTGCACTCACCGTGGGGCCCCGTTCTCCCCGAGGCCCTGACTTCCCCGACAGGCCCTGGTGGGAATGAAGCAGAGAGAACATTACCCAGGGTGAGACTCCCCACAGACCCCCTCTACACCTCTCCAGCCCTTCCCTTCTCACGCCCTCCCACCCCCCAGCTTACCCGGGCTCCCTTCTCTCCACTGGCACCAGGAAAGCCAGGAAATCCTAGGGACCCCTGGTGAGAACGGAGAAGGGGGGAAATTGAGAAGTTATGAAAGGTAGGGTTCAGGAAGGGGCAAAGGGGGTCAGGAGAGGCCACAAAGGCAGTGGCCAGGGAGACCCGAGCTCTGCCAAGAACTAAGTGGCCTTGGACAAACCCCTGCTGCTCTCTGGGCCTCTTTCGGTCATCTGTAAAATGGGGGTCAGCTAAATTCCCTCTGGGGTCCCCCACTGCCCTGCATCTGTGCTTTCTGGAATCAGGGATCAGGGAAGCGAAGAGGAGGAGGGAAGAGGAGGAGGGGCACGTATGGGGCATGGCATCACCTTGGGTTCCTGACGTCCAGGATAGCCAGGCAGACCAGGAACACCCAGCTTGCCCTGTGGAGGGACAGGAAGCAGTTAGGAGTGAGAGGAGGCCCAGATGCCACTCCACCCCTGGAGACCTCAACCCTCACATATAACAGCCAGCCCCCACCCAGCAACACACCCCACACACCCCAGCCTCTAGCCCCTCATTGCTTGCCCCACAGCTGCCTGACTTTTGTTGTCTCTCCTTCCCGTGAGTGGATTTTCCCCAATTCTAGTGCTGGGATCCCACCTCCCCTGCGCCTACAGAGGTATCAGGTCCTTCAGGGTCACTGTGATCTAGCTGCTTCCCACATGTCAACCTCAGCTCCATCTACCCCATGAGGGAGGTGGGATCTACCCCAGCACCCACTCCTGCTTCACCAAGACCAATCCCCCTGCAGGCCCTTTGCCCACCACACCCCGACTCCCGTGCATGCCCCCTTCCCCAGAGGCTCCAGGGCTCATCCTGCCCAGGCAGCTGCAGAGCAGGGCTTAGAAGCAGAGATTCTGAAGCCAGACTGCCTGGGCATAACCCCTGGCTCTGCCCTTCACTGGCCATGTAATCAACAAGCATCCCTGTGCCTCTGTAAAACCTCAGCAAAACAGTACGTCACATGCCTACCTCATAGGATAGATAGGACGCATCAGCACAGCACCTGGCACAGGGCAAGTGCTGGGGAGAGTCAGCTCTGGAGACCACAGACCTCACTGCTATTAGACTCTCTCATCTCAGAACTCCTGCTGCTTGGAGTCCGAACGCATGTTCACTCTGCCTTGAAGCAACAGCTACTCTCTAAGCTTCGTCTCCGTCCAACTCTTCGTGTCAGGGACTTTTCCCTGACTTCTTATATATCCCCTCTGCCCATCAGCAGCTGAGAGATGCCATTTACACAGACAGAAGTATGACTAATGCATGGCCATCTTCAACTGACTGGCTGACTTCAGCGGCGGGCACCCATGCCCATCCTGACCCCAGTGCCCACACCCCCAGAGGACCCAGGCACAGAACCCTCATCCCATCACCTTCTCGCCCATGAGCCCTGGGGGCCCAGGGTCTCCAGTCGGTCCAGTGCGTCCCTTTGGCCCCTCAGGACCATCCTCTCCCCTGGAACCAGGGACTCCAACTTCGCCCTGTGTGAGAGGGAAGGACAGGTGAGTGCTGGGGACTGGAGGTGGGCTCTGGGCCCAGAGGAGAAATGGGCAACAGTGAGGCTGAGGAGGGCTAGAGGGGTCCCAGGAGCCACTGCAGGACAGGAAGCCCACAGGGTAGGGATAGTGTAGTGATGGGAGGGCAGGCATGACACAGACCATGGGGCTATCATCCTGTAGGGGTCAGGCTCCCAAGGGAACACAGCACTGGAACTGTGGAGTCTGGAGACTCAGGAGAATAAACCGGTGCTTGGCGTCTCCAGAGTGGAGGCTCAGTAGAACACGGAATTGGGGCCAGTGTGGGGTCTCTACTCACCCTGTCACCTTTCACGCCTATGTCACCTTTGAACCCAGGAAAGCCATCCTCACCCTGAGAAAGATAGAGGTGAGAGGGCACCACAGATGACAGAGGGCTGGGGTTCTAATGGGAATTCTGAGAACATAGGTGGAAGCAGGGGCTCGGGAGCTGGACGGCAGTGCGGGGCAGGCTGGAGGGAAGGCAGTGAAGAGAGGAGATGGCAGGACTGAGGTGCTGGGAAGCTGGGGGCATGGTGCTCACCTTCTCACCCTTATGACCCTTCAGACCCCGAATTCCGTCCACACCCTAGAATTAGAGAGGGGATAGAAGTAGACTGATCAGGGGATGGAGGTGGGTTGGAAGGACCAAGCTCCTAAGACCCCATATAGCTCCCCTGACCACAGCCCTTTGTCTCCCAGCCTGGTGGTCAGTTACCTTGACCCCTCGAGGTCCTGGGTATCCTAGAGGTCCCTGAGGTCCAGAGGGACCCTGGAAGATAAAAGAGAGGCATTTATAAAGGGGCCTCAGAGTGTCACTGTGGGGGCCTCCAGGGGTGGAAGAAATGGAAGTAACAACATTGCTGT
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Task1_train_10180
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Gene COL11A2 (collagen type XI alpha 2 chain), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; COL11A2-related disorder
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CCTACCTCATAGGATAGATAGGACGCATCAGCACAGCACCTGGCACAGGGCAAGTGCTGGGGAGAGTCAGCTCTGGAGACCACAGACCTCACTGCTATTAGACTCTCTCATCTCAGAACTCCTGCTGCTTGGAGTCCGAACGCATGTTCACTCTGCCTTGAAGCAACAGCTACTCTCTAAGCTTCGTCTCCGTCCAACTCTTCGTGTCAGGGACTTTTCCCTGACTTCTTATATATCCCCTCTGCCCATCAGCAGCTGAGAGATGCCATTTACACAGACAGAAGTATGACTAATGCATGGCCATCTTCAACTGACTGGCTGACTTCAGCGGCGGGCACCCATGCCCATCCTGACCCCAGTGCCCACACCCCCAGAGGACCCAGGCACAGAACCCTCATCCCATCACCTTCTCGCCCATGAGCCCTGGGGGCCCAGGGTCTCCAGTCGGTCCAGTGCGTCCCTTTGGCCCCTCAGGACCATCCTCTCCCCTGGAACCAGGGACTCCAACTTCGCCCTGTGTGAGAGGGAAGGACAGGTGAGTGCTGGGGACTGGAGGTGGGCTCTGGGCCCAGAGGAGAAATGGGCAACAGTGAGGCTGAGGAGGGCTAGAGGGGTCCCAGGAGCCACTGCAGGACAGGAAGCCCACAGGGTAGGGATAGTGTAGTGATGGGAGGGCAGGCATGACACAGACCATGGGGCTATCATCCTGTAGGGGTCAGGCTCCCAAGGGAACACAGCACTGGAACTGTGGAGTCTGGAGACTCAGGAGAATAAACCGGTGCTTGGCGTCTCCAGAGTGGAGGCTCAGTAGAACACGGAATTGGGGCCAGTGTGGGGTCTCTACTCACCCTGTCACCTTTCACGCCTATGTCACCTTTGAACCCAGGAAAGCCATCCTCACCCTGAGAAAGATAGAGGTGAGAGGGCACCACAGATGACAGAGGGCTGGGGTTCTAATGGGAATTCTGAGAACATAGGTGGAAGCAGGGGCTCGGGAGCTGGACGGCAGTGCGGGGCAGGCTGGAGGGAAGGCAGTGAAGAGAGGAGATGGCAGGACTGAGGTGCTGGGAAGCTGGGGGCATGGTGCTCACCTTCTCACCCTTATGACCCTTCAGACCCCGAATTCCGTCCACACCCTAGAATTAGAGAGGGGATAGAAGTAGACTGATCAGGGGATGGAGGTGGGTTGGAAGGACCAAGCTCCTAAGACCCCATATAGCTCCCCTGACCACAGCCCTTTGTCTCCCAGCCTGGTGGTCAGTTACCTTGACCCCTCGAGGTCCTGGGTATCCTAGAGGTCCCTGAGGTCCAGAGGGACCCTGGAAGATAAAAGAGAGGCATTTATAAAGGGGCCTCAGAGTGTCACTGTGGGGGCCTCCAGGGGTGGAAGAAATGGAAGTAACAACATTGCTGTCTGGGTAGGGTTACGGGGCACAGGAATTGAGAATGTGGCAGAGCCATATGAATAATGAGACAAGGGAATCCCAAGGACTTTGAGGCTCTAGAGTCTGAGTGGAGACTCCCTCAGGGGATAAAGACATGGAAGATCTCACCTGGTTTCCTTTGGTTCCAGGGGGACCTTCCTTCCCTGGGTGACCCTGGGAGTAAGGGATAGAAAATGTGACCAGTGGCCCCTGTCACCCTCTCTGCACCCCTCCCTACACTTCTTCCAACCCAAATTTCCTGTGACCTAGTGAAGCCAACTGTCCATGGACAAGCACCACCAGTGACCTTTCAGTGCAAGGGTCACTAAAGGAGCTCTGAGGTCATGCACTGGGGTGGAAGGCCAAGGGGAACTGGATTCGGAAGTGGGGTCCCACTCACCGGGGGTCCGTCTGAGCCAGGCATGCCGGGGAGCCCTGGCTTCCCTTGAGGACCCTGCAGGAAGACAAAGAGGCTCAGGGTCACTAGAGGGGTCATGTCTGGACACAGACAAAATCCCAGCAGACATTTAGGGTTCTCCCTACATCCCCACTCTAAACCCCCTGTCCTCCAAATCACTTAGTCACTTACCTTCTCTCCATGAGGGCCGATGGCACCCTGGGGCCCGGGAAGACCCTACATACAGGGAAAGAGAAGTCACAGGGGCCTCCCAGGGTCTCTTCTATCCAGCCTCCCGGATTCAAAGCATGAGCAACAAGGGCCTGAAACCCTTAATTTCCTGTATCCTTCCAGGGTCTCACCCATTGTGGAAGCCCAAGGGAAGTCATGAAAATTGGGGAACGGAGTAGGGGCACCGCTCACCTGGGTCCCAGGGGTGCCCTGTTGTCCAGGAGGTCCTGGCTCTCCCTGGGGTCCCTAGAAACAGGTGACCAGGCACAGGTCAGAAGGAGATGGAGATAGAACACATTTAGAGCATGGAGCTGAGTCCCAGCAGCGATAGCCAAGAAGGCAAGAGCAGGAAGCAGGCAGGGGTCAAAATGGCGGCCAACAGGATGCTGGCAGGGACCTCGGGGGATAAGAATGGGGGTGGGATCTCCTATCCATCACTCACCAAGCTCCCTTTGGGGCCCTGGGGACCATCCATGCCTCGGACGCCCTGAAACACAAGATGGGTGTGAGCAGCCTGAAGGTGGCCCGGAGGGACCTGTGGTTTTCAGAGGCCCGGCCATTCCCGAGGGTGTGACGGTCAGACCTCCAATCCATCCCAAACCCAAGCAAACACAGCTGGCCCAGGCCTGCAGTGTGTGGGACTGTGGATCTGTGGGCTTGTGGGCTTTGGTTTTGTTTTTCTTGAAGATTTATTTCCTATGCCCAGAGCCCTCAGGGCACCACGCCACATGGCCCTCCCTGTGCACGGGGAGCGAATGCTGAGGCAGGGCAGTGTGGGGCCAGAGCAGGGGGAGCTCACAGGGAATGGGAAGCATGCCGAGAGAGGAGAGGGAGCAGGAAGGCAGCTAGAAAGGTGGAGAGTTGGAGAGGTCAAGGGGTCACCTCAGGGTCAGAAGTCAGGGAGTCACTTACAGGGGGTCCAGGAATACCAGGTGGGCCTTTGGGGCCAAGGAGACCTCGAGGTCCCTGCATTCACGGTGAGGGGAGGAGACGGCATGAATGGATAAAACTGTGTCCCTTTAGTGCTCATGTCCCCCTCCTGGCTTCCCCAGAGCCCCCTCCCCCAGCACCAGCCCTTGGACACTCACCGACTCTCCAGGCAGCCCTCGAGGCCCAATCTCCCCGTCATCTCCCTGGAGGAGGAGGACACGGTAAAGCTGCTGTGCCTTCTAGACCTCCCCTGCACCCAGCCCCTACATTTGCCACTACACTTACCCTCTCTCCATCCTCACCAGGGGGACCAGGAAGGCCCTGGGCACCAGTATCACCCTGCAAAATGGGGGAACTCATAAGAGGGGCTTCAGAGCCCCCAACACAGGCAGACACCGAACCTCTGCACTTAGCCCATCCATTACTTTCACTGAGCTCCTGCCAAGCCTCCAGCCTCCCTTCCCTACCTATCCTCACTCCCATAGAAGATCTATCCCCAATTACAACACACACCCACTAATGTACTCACCCTATGGCCCTTCTCTCCAGGGAGCCCTGGGAGTCCATCAAAACCTCGGTCACCCTAGGAGGAGGAAGGATAGCCAGAGTGAGGACACGACCCTGTCCAAGCCCACCCCTCCCTACTGCACCCTGAGCTGGGGGGGTGCTGATCCTGGGGAAGCCTGGAGAACTAGGTCATCCCCAAGAAACAACTGAGCCCAGCGTGGGCTGAAGGCTACAGGCTTCAGGGAGGGGCCCAAGCCTGTTACCTTCACTCCAGGATCTCCAGGCATCCCTCGGGCTCCATCAGCACCTGCCCGGCCCTGGGAGAACAAGGGAAGTGTCAGAACAAGCAGGGCCGCAGTCCCCTACCCTGCAGGCCCTGTCTCCCCACAACACCCATCCACCCCTGGGGCACTCACCCTTCGCCCAGCCTTGCCAGGAGGGCCTGTGAGGCCCTGAGGTCCTCTGGGGCCCTGGTGAGAGGAGAGATGGGGTGGGGTTAGGAGGCATAGGGAGGGGAGTGAGGGAGACTGAGCTGGTGAACAGATATGGGGGTGCAGTGGAGGAAAGTGGTCACCTGAGGTCCTAAGTCTCCAGACTCTCCTTTCAG
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CCTACCTCATAGGATAGATAGGACGCATCAGCACAGCACCTGGCACAGGGCAAGTGCTGGGGAGAGTCAGCTCTGGAGACCACAGACCTCACTGCTATTAGACTCTCTCATCTCAGAACTCCTGCTGCTTGGAGTCCGAACGCATGTTCACTCTGCCTTGAAGCAACAGCTACTCTCTAAGCTTCGTCTCCGTCCAACTCTTCGTGTCAGGGACTTTTCCCTGACTTCTTATATATCCCCTCTGCCCATCAGCAGCTGAGAGATGCCATTTACACAGACAGAAGTATGACTAATGCATGGCCATCTTCAACTGACTGGCTGACTTCAGCGGCGGGCACCCATGCCCATCCTGACCCCAGTGCCCACACCCCCAGAGGACCCAGGCACAGAACCCTCATCCCATCACCTTCTCGCCCATGAGCCCTGGGGGCCCAGGGTCTCCAGTCGGTCCAGTGCGTCCCTTTGGCCCCTCAGGACCATCCTCTCCCCTGGAACCAGGGACTCCAACTTCGCCCTGTGTGAGAGGGAAGGACAGGTGAGTGCTGGGGACTGGAGGTGGGCTCTGGGCCCAGAGGAGAAATGGGCAACAGTGAGGCTGAGGAGGGCTAGAGGGGTCCCAGGAGCCACTGCAGGACAGGAAGCCCACAGGGTAGGGATAGTGTAGTGATGGGAGGGCAGGCATGACACAGACCATGGGGCTATCATCCTGTAGGGGTCAGGCTCCCAAGGGAACACAGCACTGGAACTGTGGAGTCTGGAGACTCAGGAGAATAAACCGGTGCTTGGCGTCTCCAGAGTGGAGGCTCAGTAGAACACGGAATTGGGGCCAGTGTGGGGTCTCTACTCACCCTGTCACCTTTCACGCCTATGTCACCTTTGAACCCAGGAAAGCCATCCTCACCCTGAGAAAGATAGAGGTGAGAGGGCACCACAGATGACAGAGGGCTGGGGTTCTAATGGGAATTCTGAGAACATAGGTGGAAGCAGGGGCTCGGGAGCTGGACGGCAGTGCGGGGCAGGCTGGAGGGAAGGCAGTGAAGAGAGGAGATGGCAGGACTGAGGTGCTGGGAAGCTGGGGGCATGGTGCTCACCTTCTCACCCTTATGACCCTTCAGACCCCGAATTCCGTCCACACCCTAGAATTAGAGAGGGGATAGAAGTAGACTGATCAGGGGATGGAGGTGGGTTGGAAGGACCAAGCTCCTAAGACCCCATATAGCTCCCCTGACCACAGCCCTTTGTCTCCCAGCCTGGTGGTCAGTTACCTTGACCCCTCGAGGTCCTGGGTATCCTAGAGGTCCCTGAGGTCCAGAGGGACCCTGGAAGATAAAAGAGAGGCATTTATAAAGGGGCCTCAGAGTGTCACTGTGGGGGCCTCCAGGGGTGGAAGAAATGGAAGTAACAACATTGCTGTCTGGGTAGGGTTACGGGGCACAGGAATTGAGAATGTGGCAGAGCCATATGAATAATGAGACAAGGGAATCCCAAGGACTTTGAGGCTCTAGAGTCTGAGTGGAGACTCCCTCAGGGGATAAAGACATGGAAGATCTCACCTGGTTTCCTTTGGTTCCAGGGGGACCTTCCTTCCCTGGGTGACCCTGGGAGTAAGGGATAGAAAATGTGACCAGTGGCCCCTGTCACCCTCTCTGCACCCCTCCCTACACTTCTTCCAACCCAAATTTCCTGTGACCTAGTGAAGCCAACTGTCCATGGACAAGCACCACCAGTGACCTTTCAGTGCAAGGGTCACTAAAGGAGCTCTGAGGTCATGCACTGGGGTGGAAGGCCAAGGGGAACTGGATTCGGAAGTGGGGTCCCACTCACCGGGGGTCCGTCTGAGCCAGGCATGCCGGGGAGCCCTGGCTTCCCTTGAGGACCCTGCAGGAAGACAAAGAGGCTCAGGGTCACTAGAGGGGTCATGTCTGGACACAGACAAAATCCCAGCAGACATTTAGGGTTCTCCCTACATCCCCACTCTAAACCCCCTGTCCTCCAAATCACTTAGTCACTTACCTTCTCTCCATGAGGGCCGATGGCACCCTGGGGCCTGGGAAGACCCTACATACAGGGAAAGAGAAGTCACAGGGGCCTCCCAGGGTCTCTTCTATCCAGCCTCCCGGATTCAAAGCATGAGCAACAAGGGCCTGAAACCCTTAATTTCCTGTATCCTTCCAGGGTCTCACCCATTGTGGAAGCCCAAGGGAAGTCATGAAAATTGGGGAACGGAGTAGGGGCACCGCTCACCTGGGTCCCAGGGGTGCCCTGTTGTCCAGGAGGTCCTGGCTCTCCCTGGGGTCCCTAGAAACAGGTGACCAGGCACAGGTCAGAAGGAGATGGAGATAGAACACATTTAGAGCATGGAGCTGAGTCCCAGCAGCGATAGCCAAGAAGGCAAGAGCAGGAAGCAGGCAGGGGTCAAAATGGCGGCCAACAGGATGCTGGCAGGGACCTCGGGGGATAAGAATGGGGGTGGGATCTCCTATCCATCACTCACCAAGCTCCCTTTGGGGCCCTGGGGACCATCCATGCCTCGGACGCCCTGAAACACAAGATGGGTGTGAGCAGCCTGAAGGTGGCCCGGAGGGACCTGTGGTTTTCAGAGGCCCGGCCATTCCCGAGGGTGTGACGGTCAGACCTCCAATCCATCCCAAACCCAAGCAAACACAGCTGGCCCAGGCCTGCAGTGTGTGGGACTGTGGATCTGTGGGCTTGTGGGCTTTGGTTTTGTTTTTCTTGAAGATTTATTTCCTATGCCCAGAGCCCTCAGGGCACCACGCCACATGGCCCTCCCTGTGCACGGGGAGCGAATGCTGAGGCAGGGCAGTGTGGGGCCAGAGCAGGGGGAGCTCACAGGGAATGGGAAGCATGCCGAGAGAGGAGAGGGAGCAGGAAGGCAGCTAGAAAGGTGGAGAGTTGGAGAGGTCAAGGGGTCACCTCAGGGTCAGAAGTCAGGGAGTCACTTACAGGGGGTCCAGGAATACCAGGTGGGCCTTTGGGGCCAAGGAGACCTCGAGGTCCCTGCATTCACGGTGAGGGGAGGAGACGGCATGAATGGATAAAACTGTGTCCCTTTAGTGCTCATGTCCCCCTCCTGGCTTCCCCAGAGCCCCCTCCCCCAGCACCAGCCCTTGGACACTCACCGACTCTCCAGGCAGCCCTCGAGGCCCAATCTCCCCGTCATCTCCCTGGAGGAGGAGGACACGGTAAAGCTGCTGTGCCTTCTAGACCTCCCCTGCACCCAGCCCCTACATTTGCCACTACACTTACCCTCTCTCCATCCTCACCAGGGGGACCAGGAAGGCCCTGGGCACCAGTATCACCCTGCAAAATGGGGGAACTCATAAGAGGGGCTTCAGAGCCCCCAACACAGGCAGACACCGAACCTCTGCACTTAGCCCATCCATTACTTTCACTGAGCTCCTGCCAAGCCTCCAGCCTCCCTTCCCTACCTATCCTCACTCCCATAGAAGATCTATCCCCAATTACAACACACACCCACTAATGTACTCACCCTATGGCCCTTCTCTCCAGGGAGCCCTGGGAGTCCATCAAAACCTCGGTCACCCTAGGAGGAGGAAGGATAGCCAGAGTGAGGACACGACCCTGTCCAAGCCCACCCCTCCCTACTGCACCCTGAGCTGGGGGGGTGCTGATCCTGGGGAAGCCTGGAGAACTAGGTCATCCCCAAGAAACAACTGAGCCCAGCGTGGGCTGAAGGCTACAGGCTTCAGGGAGGGGCCCAAGCCTGTTACCTTCACTCCAGGATCTCCAGGCATCCCTCGGGCTCCATCAGCACCTGCCCGGCCCTGGGAGAACAAGGGAAGTGTCAGAACAAGCAGGGCCGCAGTCCCCTACCCTGCAGGCCCTGTCTCCCCACAACACCCATCCACCCCTGGGGCACTCACCCTTCGCCCAGCCTTGCCAGGAGGGCCTGTGAGGCCCTGAGGTCCTCTGGGGCCCTGGTGAGAGGAGAGATGGGGTGGGGTTAGGAGGCATAGGGAGGGGAGTGAGGGAGACTGAGCTGGTGAACAGATATGGGGGTGCAGTGGAGGAAAGTGGTCACCTGAGGTCCTAAGTCTCCAGACTCTCCTTTCAG
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Task1_train_10181
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The following genetic variant occurs in COL11A2 (collagen type XI alpha 2 chain) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; not provided
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CCAGAGTGGCAGAATCAGGACCAGATCCCAGGCCTTCCAGAATTCTTTGCCTCCCCTCTGCGCTTTGTGGCAATGCATGAGCCCTTCCACAGTGGCTTCCAGAGACAGGGCTCAGCTTTAGATGCCTTGGCCTTCCAATGGCAGTGATGATGAGAATTCTCTGGACCTCTAGAAATGGAGTGGGGAGAACCCATTCCTGAGTTCCAATGGCATTTACTTTTGCCCACACATGGTGCTTAGCATACTCTCCATTGCACCGTAATTTAGGGATGTTGTCTCATTTCCAGAGCCCACCTGGGAGCTCTTGGGGGTGATAGAGACTTTATATTCTCTTCTTTGTTCTCCTTGTCCAGCAGGTATTCAGAAAATGTTGACTGGCTTGGAGGGTGAATGGAGGGATGGGTGAATGGAGGGATGGATGAATGGATAGATGAGTGGATGGGTGGCTGGGGGCTTACATGCATTAATGAATGGGAGCATTGATAAATAGTGAATGAATAAATGTACGTATGGGAGGGTGGACTGGTGGGCAGATGAACAGGGGTTACAGAGTAGATGGAAGCAAATGGGTGAATAGGTAGATGGGTGAACTTATGTGGGTGAATGACTGGTCGGATGGGAAGTAAGTGGGTCAGGAGATGGGTGAGTGAGTATATTGAAGGAGGGAGTGGTTGAGTTGGTGGAAGGATAATGGATAGATGGTGGCTGAATGGATGCATGCATCCTTGTGTGCATGGGTAGATGGGGAGGGTGGGTGGGTGAGTGAATAGCTGGATGGAGGAGTTGAAGAGGATAGATGGGTGGAAGCATAGATGGGTGGTTTGAAGGGGAGAGTGGTTAAGCAGGGGGAGGATTGACAGGTGGGTGGATATAAGCCTTCATGCATGACTAGGTGGGCGTGTGATGCATAGATGAGTAAATAGATGGGGGAGTGGGTGGTGGATGTGTGCATAGGTTGGCTGAGGAGTGAGTGAATTGATGGGTGGGTGAGGAGAGAGAGGGGTTGAAAGGATGGATGGATGAGGGAACTGATGAAGACTGAAGGACAGAGTAAGTGGCTGTGGACAGTCCTGCCATATAGGTAGGCATCTAGTTCTCCTGCAGAGAACAGTAGCCCTGAAGATAGAAAATAGAAATGAAAATTCATAAGAAAAAAAAATGAAGGCCTAGGGAATAGGAAGATGACATGCTGGGGCCAGAAGGGTAGTGGGCACAAGATAGGGGACCAGAAGTCAATCCTGCCTCTGATTGCTCTGGTTACCTCAAAGACTTCTTCATCCAGAATACGGGCACCAAAGATGATCACTCCATGGGTGTCCAATACTGGACGAGCACTTCGGGGGAGAGGCCGGGTGACTCGCTTCTTGCAGTCAACAATGAGGGTGACAGACTGGCCCTTCACAGCCACAGCCACACGGTGCCACCTGGAAATGGTGGAAGAGGTTCAAGTGAACTCTTGGCTGACTGAAGTAGGGGAGTCAACATGGTTGGAGAGCAGTGATAAGAGTTGAAGCCAATGGTGATAAGAGCAGTAATAACAATGGCTACCATTTATTGAGTGTTTACAGTGCACCAGACACCATGCCGTCACTTTCTTATTTGTGCCAATTCTATTTAATGTCTATTTTACAGATGTAGAAACTGAGGCTCAAAAATTTTAAGTAACTTGCCCAAGGTACAGGCTAGTTCAACATGCAGAGAAGGCTGTACACTCTAAAGCCCAAACTCTGGACTAGAAGTGACTGAAGTTTGGGCAGTGGGTAGGTGTGGTGTGGCCCAAAGGGTCTCAAGGGTTTCACAGTTTAGAGTGTAGGGGTTTGGGGGCACTTCCTCCTGAAAGTGTGGGCCAGGCAGACCAGAGGAGCAAACAAACTTACTTGCCATCTGCTAGGCTGAGGCCTCGGAAGACTGGCTGAGAGGGAGGTTGAGGCCGCCCAGTCTGGTCTTCATACAGGAAGCGGACAGGTCGGCCCAGCTCCAGGCCCAGCTGTCGGACACCCTGGGCACTGTAGAGAGTCAGGAGGGGAGCTTGGAGACCAGGGCGGGTCCGGACAACAGTCAGCAGAGAGAAATCTTTGGGAAATCCTCCTAGTAACCGAGAGAGATACACACAGAGTGAGAGGCAAAGGGAGCCGCCACAACCCCTTTCCTCCTGGTGTCTGATCCTAGGCCCCATCCCATTACCTCCCCCCAGGCCTACCCCACCATGTCACCCATACCTGGGAAAAGCTGGCGAGTGGGTGCACTGAGCTGGGCAGGTCGTGCCACTCGGTAGGCCACATCAGCTGGACAGATGCCTTTCGCTCTCCGGACACCATCAGGGAGGGAGGGGAACCTCAGGGCCCGGAGCACATCCACAGGGGGTGCACCTGGGAGAGTCCATGATTATCAGGAGAAGGGACATGCCCTCAGGAGGGCATAAATAGGGGACATTTGGGATCTAGAACTCAGCTTTCCAGGGCTCAAACTCCCTGCAAGGGAAAGGTCACCTCACCCTCACTTGCTTCTGAACAGTACCTGAATGGATGGGAAATGCAAAGGTACCTGGAGGCAGGGCAGCATCAGCTGGCATTCAACCCCATGACACTCCTGCCCCTGTCTCTCCTAGCATCTGCCTCTCTTACGCTCTCTCTTTGTCTTTTAGCTTATGAATCTGTCTCTCTCTGTACTCTCTGAATACTTCTCTCAACTCTTCATCTGTCTCCTGTCTCTCTCACTCTCTTACTCTCTCTGTCTCTTTATGTTGGTCTTTCTGTCTCTGTCTCTTCTGTCTTCCTCCATTTCTCTCACATTCTGTCCATCTTTTTCTCTCCCTCGCTCTCACTCTCTTTCCATATCTCTCACTCTCTGGGTCTCTGGCATCTGTCCCGTCTCCAGCACAAACAACATCTGGGCAATCGATCATCCTGGACACAGGAGGTGCAGGGGGGCCACGAGGAAGAGATCAGAGAAGCAGCTCTATGAGAGGGGCTTCAAGCAGCTACAGATCCCAGGTTTGGGGGATGGGGTGGGAACAACCCTGAGCATGCTGAGGAAAAAGATACAAGAAAGCTCTCCCAGGAGTCTGTGCCTCCTGGTTTAGGAGATGAGTTGGGGAGGGGTGGAGGAATGGGGGGCAGGGGCTGAAGCTGCCACGAGGAGCCGGAACAGGTCCAGGGCCCTGAGCCACACATCTGTGGATCCCATCAGAGTGCTTGCCCAGAACCCAGGCAAGCTCCCCACACCTGGAACCTCAATCCTGTCTCACCACCCCCACCAACCCCACCACCTGGGACCCAAAGATTCAAGATCCAGCCCACCAGCCCTGTCTAACTAGAACTCAGCTTCCTAGGGCTCAAACTCCCTGGAAAACAAAAGATCACCTTGCCCTCACTTGCTCCCCTATACACATACTCTTCACACCATCAGCTCCAGATTGGAAAAATCCCAAAGAGAGTTCCAGCAAAACTTTCATAGAAGTGTGGGGCAGGGCAGAGGCCAGAGCAATCAGGAGAGTGGAGCTGGGTGGGGTGGGTGAGGTGGGGCGGGCAGGCAGAGAAAAGGCCCTTTGAGTCCAGGAGCCGGGAAACCACGGCCTTCCCCCCCAACCCCCACCTAAGCCTGGCCCCTGCGCGTGTGGCAGCTCCGCAAACACCAACACACAAGGGCCGCTTTGAGAGACGAAGGGTGAGTGAGACAGAGACACAGAGACTCACAGAGACCCCAGGCCAAGGAGACCTCGGAGGTCCCCACCCTCCACCAAATCCCAAGGGAGTACAATTCGATCATATGGACAACCTACCCACAGGTCCGCCCACCATCTTCCCACACCAGGCCACATACTTGCCCCCCTGTATCCAGCCTCATCTGCCCCACAGGCTCTCCACTGGTAGCCCCATTACCCTCCACCACTCTACCTCTGGCCCCCCAAATGCCTTATTCTCTAACCTTAGGAATTCTACAGTAACTCATTTCCCTAAAGTCCCATCTCTACCCACTCAGCCCCTGAAATAAGAAACAGTCATCTTAGCCATCCCCCTGCCTCCATGCCAGAGGATCCCTCTTCCCCCTAAGAAAGACTCCTAGAGTCTACAGGCACCATACGCCTCAATTTCCT
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CCAGAGTGGCAGAATCAGGACCAGATCCCAGGCCTTCCAGAATTCTTTGCCTCCCCTCTGCGCTTTGTGGCAATGCATGAGCCCTTCCACAGTGGCTTCCAGAGACAGGGCTCAGCTTTAGATGCCTTGGCCTTCCAATGGCAGTGATGATGAGAATTCTCTGGACCTCTAGAAATGGAGTGGGGAGAACCCATTCCTGAGTTCCAATGGCATTTACTTTTGCCCACACATGGTGCTTAGCATACTCTCCATTGCACCGTAATTTAGGGATGTTGTCTCATTTCCAGAGCCCACCTGGGAGCTCTTGGGGGTGATAGAGACTTTATATTCTCTTCTTTGTTCTCCTTGTCCAGCAGGTATTCAGAAAATGTTGACTGGCTTGGAGGGTGAATGGAGGGATGGGTGAATGGAGGGATGGATGAATGGATAGATGAGTGGATGGGTGGCTGGGGGCTTACATGCATTAATGAATGGGAGCATTGATAAATAGTGAATGAATAAATGTACGTATGGGAGGGTGGACTGGTGGGCAGATGAACAGGGGTTACAGAGTAGATGGAAGCAAATGGGTGAATAGGTAGATGGGTGAACTTATGTGGGTGAATGACTGGTCGGATGGGAAGTAAGTGGGTCAGGAGATGGGTGAGTGAGTATATTGAAGGAGGGAGTGGTTGAGTTGGTGGAAGGATAATGGATAGATGGTGGCTGAATGGATGCATGCATCCTTGTGTGCATGGGTAGATGGGGAGGGTGGGTGGGTGAGTGAATAGCTGGATGGAGGAGTTGAAGAGGATAGATGGGTGGAAGCATAGATGGGTGGTTTGAAGGGGAGAGTGGTTAAGCAGGGGGAGGATTGACAGGTGGGTGGATATAAGCCTTCATGCATGACTAGGTGGGCGTGTGATGCATAGATGAGTAAATAGATGGGGGAGTGGGTGGTGGATGTGTGCATAGGTTGGCTGAGGAGTGAGTGAATTGATGGGTGGGTGAGGAGAGAGAGGGGTTGAAAGGATGGATGGATGAGGGAACTGATGAAGACTGAAGGACAGAGTAAGTGGCTGTGGACAGTCCTGCCATATAGGTAGGCATCTAGTTCTCCTGCAGAGAACAGTAGCCCTGAAGATAGAAAATAGAAATGAAAATTCATAAGAAAAAAAAATGAAGGCCTAGGGAATAGGAAGATGACATGCTGGGGCCAGAAGGGTAGTGGGCACAAGATAGGGGACCAGAAGTCAATCCTGCCTCTGATTGCTCTGGTTACCTCAAAGACTTCTTCATCCAGAATACGGGCACCAAAGATGATCACTCCATGGGTGTCCAATACTGGACGAGCACTTCGGGGGAGAGGCCGGGTGACTCGCTTCTTGCAGTCAACAATGAGGGTGACAGACTGGCCCTTCACAGCCACAGCCACACGGTGCCACCTGGAAATGGTGGAAGAGGTTCAAGTGAACTCTTGGCTGACTGAAGTAGGGGAGTCAACATGGTTGGAGAGCAGTGATAAGAGTTGAAGCCAATGGTGATAAGAGCAGTAATAACAATGGCTACCATTTATTGAGTGTTTACAGTGCACCAGACACCATGCCGTCACTTTCTTATTTGTGCCAATTCTATTTAATGTCTATTTTACAGATGTAGAAACTGAGGCTCAAAAATTTTAAGTAACTTGCCCAAGGTACAGGCTAGTTCAACATGCAGAGAAGGCTGTACACTCTAAAGCCCAAACTCTGGACTAGAAGTGACTGAAGTTTGGGCAGTGGGTAGGTGTGGTGTGGCCCAAAGGGTCTCAAGGGTTTCACAGTTTAGAGTGTAGGGGTTTGGGGGCACTTCCTCCTGAAAGTGTGGGCCAGGCAGACCAGAGGAGCAAACAAACTTACTTGCCATCTGCTAGGCTGAGGCCTCGGAAGACTGGCTGAGAGGGAGGTTGAGGCCGCCCAGTCTGGTCTTCATACAGGAAGCGGACAGGTCGGCCCAGCTCCAGGCCCAGCTGTCGGACACCCTGGGCACTGTAGAGAGTCAGGAGGGGAGCTTGGAGACCAGGGCGGGTCTGGACAACAGTCAGCAGAGAGAAATCTTTGGGAAATCCTCCTAGTAACCGAGAGAGATACACACAGAGTGAGAGGCAAAGGGAGCCGCCACAACCCCTTTCCTCCTGGTGTCTGATCCTAGGCCCCATCCCATTACCTCCCCCCAGGCCTACCCCACCATGTCACCCATACCTGGGAAAAGCTGGCGAGTGGGTGCACTGAGCTGGGCAGGTCGTGCCACTCGGTAGGCCACATCAGCTGGACAGATGCCTTTCGCTCTCCGGACACCATCAGGGAGGGAGGGGAACCTCAGGGCCCGGAGCACATCCACAGGGGGTGCACCTGGGAGAGTCCATGATTATCAGGAGAAGGGACATGCCCTCAGGAGGGCATAAATAGGGGACATTTGGGATCTAGAACTCAGCTTTCCAGGGCTCAAACTCCCTGCAAGGGAAAGGTCACCTCACCCTCACTTGCTTCTGAACAGTACCTGAATGGATGGGAAATGCAAAGGTACCTGGAGGCAGGGCAGCATCAGCTGGCATTCAACCCCATGACACTCCTGCCCCTGTCTCTCCTAGCATCTGCCTCTCTTACGCTCTCTCTTTGTCTTTTAGCTTATGAATCTGTCTCTCTCTGTACTCTCTGAATACTTCTCTCAACTCTTCATCTGTCTCCTGTCTCTCTCACTCTCTTACTCTCTCTGTCTCTTTATGTTGGTCTTTCTGTCTCTGTCTCTTCTGTCTTCCTCCATTTCTCTCACATTCTGTCCATCTTTTTCTCTCCCTCGCTCTCACTCTCTTTCCATATCTCTCACTCTCTGGGTCTCTGGCATCTGTCCCGTCTCCAGCACAAACAACATCTGGGCAATCGATCATCCTGGACACAGGAGGTGCAGGGGGGCCACGAGGAAGAGATCAGAGAAGCAGCTCTATGAGAGGGGCTTCAAGCAGCTACAGATCCCAGGTTTGGGGGATGGGGTGGGAACAACCCTGAGCATGCTGAGGAAAAAGATACAAGAAAGCTCTCCCAGGAGTCTGTGCCTCCTGGTTTAGGAGATGAGTTGGGGAGGGGTGGAGGAATGGGGGGCAGGGGCTGAAGCTGCCACGAGGAGCCGGAACAGGTCCAGGGCCCTGAGCCACACATCTGTGGATCCCATCAGAGTGCTTGCCCAGAACCCAGGCAAGCTCCCCACACCTGGAACCTCAATCCTGTCTCACCACCCCCACCAACCCCACCACCTGGGACCCAAAGATTCAAGATCCAGCCCACCAGCCCTGTCTAACTAGAACTCAGCTTCCTAGGGCTCAAACTCCCTGGAAAACAAAAGATCACCTTGCCCTCACTTGCTCCCCTATACACATACTCTTCACACCATCAGCTCCAGATTGGAAAAATCCCAAAGAGAGTTCCAGCAAAACTTTCATAGAAGTGTGGGGCAGGGCAGAGGCCAGAGCAATCAGGAGAGTGGAGCTGGGTGGGGTGGGTGAGGTGGGGCGGGCAGGCAGAGAAAAGGCCCTTTGAGTCCAGGAGCCGGGAAACCACGGCCTTCCCCCCCAACCCCCACCTAAGCCTGGCCCCTGCGCGTGTGGCAGCTCCGCAAACACCAACACACAAGGGCCGCTTTGAGAGACGAAGGGTGAGTGAGACAGAGACACAGAGACTCACAGAGACCCCAGGCCAAGGAGACCTCGGAGGTCCCCACCCTCCACCAAATCCCAAGGGAGTACAATTCGATCATATGGACAACCTACCCACAGGTCCGCCCACCATCTTCCCACACCAGGCCACATACTTGCCCCCCTGTATCCAGCCTCATCTGCCCCACAGGCTCTCCACTGGTAGCCCCATTACCCTCCACCACTCTACCTCTGGCCCCCCAAATGCCTTATTCTCTAACCTTAGGAATTCTACAGTAACTCATTTCCCTAAAGTCCCATCTCTACCCACTCAGCCCCTGAAATAAGAAACAGTCATCTTAGCCATCCCCCTGCCTCCATGCCAGAGGATCCCTCTTCCCCCTAAGAAAGACTCCTAGAGTCTACAGGCACCATACGCCTCAATTTCCT
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Task1_train_10182
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A genomic change on Chromosome 6 affects COL11A2 (collagen type XI alpha 2 chain). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; not provided
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CTGGGAGCTCTTGGGGGTGATAGAGACTTTATATTCTCTTCTTTGTTCTCCTTGTCCAGCAGGTATTCAGAAAATGTTGACTGGCTTGGAGGGTGAATGGAGGGATGGGTGAATGGAGGGATGGATGAATGGATAGATGAGTGGATGGGTGGCTGGGGGCTTACATGCATTAATGAATGGGAGCATTGATAAATAGTGAATGAATAAATGTACGTATGGGAGGGTGGACTGGTGGGCAGATGAACAGGGGTTACAGAGTAGATGGAAGCAAATGGGTGAATAGGTAGATGGGTGAACTTATGTGGGTGAATGACTGGTCGGATGGGAAGTAAGTGGGTCAGGAGATGGGTGAGTGAGTATATTGAAGGAGGGAGTGGTTGAGTTGGTGGAAGGATAATGGATAGATGGTGGCTGAATGGATGCATGCATCCTTGTGTGCATGGGTAGATGGGGAGGGTGGGTGGGTGAGTGAATAGCTGGATGGAGGAGTTGAAGAGGATAGATGGGTGGAAGCATAGATGGGTGGTTTGAAGGGGAGAGTGGTTAAGCAGGGGGAGGATTGACAGGTGGGTGGATATAAGCCTTCATGCATGACTAGGTGGGCGTGTGATGCATAGATGAGTAAATAGATGGGGGAGTGGGTGGTGGATGTGTGCATAGGTTGGCTGAGGAGTGAGTGAATTGATGGGTGGGTGAGGAGAGAGAGGGGTTGAAAGGATGGATGGATGAGGGAACTGATGAAGACTGAAGGACAGAGTAAGTGGCTGTGGACAGTCCTGCCATATAGGTAGGCATCTAGTTCTCCTGCAGAGAACAGTAGCCCTGAAGATAGAAAATAGAAATGAAAATTCATAAGAAAAAAAAATGAAGGCCTAGGGAATAGGAAGATGACATGCTGGGGCCAGAAGGGTAGTGGGCACAAGATAGGGGACCAGAAGTCAATCCTGCCTCTGATTGCTCTGGTTACCTCAAAGACTTCTTCATCCAGAATACGGGCACCAAAGATGATCACTCCATGGGTGTCCAATACTGGACGAGCACTTCGGGGGAGAGGCCGGGTGACTCGCTTCTTGCAGTCAACAATGAGGGTGACAGACTGGCCCTTCACAGCCACAGCCACACGGTGCCACCTGGAAATGGTGGAAGAGGTTCAAGTGAACTCTTGGCTGACTGAAGTAGGGGAGTCAACATGGTTGGAGAGCAGTGATAAGAGTTGAAGCCAATGGTGATAAGAGCAGTAATAACAATGGCTACCATTTATTGAGTGTTTACAGTGCACCAGACACCATGCCGTCACTTTCTTATTTGTGCCAATTCTATTTAATGTCTATTTTACAGATGTAGAAACTGAGGCTCAAAAATTTTAAGTAACTTGCCCAAGGTACAGGCTAGTTCAACATGCAGAGAAGGCTGTACACTCTAAAGCCCAAACTCTGGACTAGAAGTGACTGAAGTTTGGGCAGTGGGTAGGTGTGGTGTGGCCCAAAGGGTCTCAAGGGTTTCACAGTTTAGAGTGTAGGGGTTTGGGGGCACTTCCTCCTGAAAGTGTGGGCCAGGCAGACCAGAGGAGCAAACAAACTTACTTGCCATCTGCTAGGCTGAGGCCTCGGAAGACTGGCTGAGAGGGAGGTTGAGGCCGCCCAGTCTGGTCTTCATACAGGAAGCGGACAGGTCGGCCCAGCTCCAGGCCCAGCTGTCGGACACCCTGGGCACTGTAGAGAGTCAGGAGGGGAGCTTGGAGACCAGGGCGGGTCCGGACAACAGTCAGCAGAGAGAAATCTTTGGGAAATCCTCCTAGTAACCGAGAGAGATACACACAGAGTGAGAGGCAAAGGGAGCCGCCACAACCCCTTTCCTCCTGGTGTCTGATCCTAGGCCCCATCCCATTACCTCCCCCCAGGCCTACCCCACCATGTCACCCATACCTGGGAAAAGCTGGCGAGTGGGTGCACTGAGCTGGGCAGGTCGTGCCACTCGGTAGGCCACATCAGCTGGACAGATGCCTTTCGCTCTCCGGACACCATCAGGGAGGGAGGGGAACCTCAGGGCCCGGAGCACATCCACAGGGGGTGCACCTGGGAGAGTCCATGATTATCAGGAGAAGGGACATGCCCTCAGGAGGGCATAAATAGGGGACATTTGGGATCTAGAACTCAGCTTTCCAGGGCTCAAACTCCCTGCAAGGGAAAGGTCACCTCACCCTCACTTGCTTCTGAACAGTACCTGAATGGATGGGAAATGCAAAGGTACCTGGAGGCAGGGCAGCATCAGCTGGCATTCAACCCCATGACACTCCTGCCCCTGTCTCTCCTAGCATCTGCCTCTCTTACGCTCTCTCTTTGTCTTTTAGCTTATGAATCTGTCTCTCTCTGTACTCTCTGAATACTTCTCTCAACTCTTCATCTGTCTCCTGTCTCTCTCACTCTCTTACTCTCTCTGTCTCTTTATGTTGGTCTTTCTGTCTCTGTCTCTTCTGTCTTCCTCCATTTCTCTCACATTCTGTCCATCTTTTTCTCTCCCTCGCTCTCACTCTCTTTCCATATCTCTCACTCTCTGGGTCTCTGGCATCTGTCCCGTCTCCAGCACAAACAACATCTGGGCAATCGATCATCCTGGACACAGGAGGTGCAGGGGGGCCACGAGGAAGAGATCAGAGAAGCAGCTCTATGAGAGGGGCTTCAAGCAGCTACAGATCCCAGGTTTGGGGGATGGGGTGGGAACAACCCTGAGCATGCTGAGGAAAAAGATACAAGAAAGCTCTCCCAGGAGTCTGTGCCTCCTGGTTTAGGAGATGAGTTGGGGAGGGGTGGAGGAATGGGGGGCAGGGGCTGAAGCTGCCACGAGGAGCCGGAACAGGTCCAGGGCCCTGAGCCACACATCTGTGGATCCCATCAGAGTGCTTGCCCAGAACCCAGGCAAGCTCCCCACACCTGGAACCTCAATCCTGTCTCACCACCCCCACCAACCCCACCACCTGGGACCCAAAGATTCAAGATCCAGCCCACCAGCCCTGTCTAACTAGAACTCAGCTTCCTAGGGCTCAAACTCCCTGGAAAACAAAAGATCACCTTGCCCTCACTTGCTCCCCTATACACATACTCTTCACACCATCAGCTCCAGATTGGAAAAATCCCAAAGAGAGTTCCAGCAAAACTTTCATAGAAGTGTGGGGCAGGGCAGAGGCCAGAGCAATCAGGAGAGTGGAGCTGGGTGGGGTGGGTGAGGTGGGGCGGGCAGGCAGAGAAAAGGCCCTTTGAGTCCAGGAGCCGGGAAACCACGGCCTTCCCCCCCAACCCCCACCTAAGCCTGGCCCCTGCGCGTGTGGCAGCTCCGCAAACACCAACACACAAGGGCCGCTTTGAGAGACGAAGGGTGAGTGAGACAGAGACACAGAGACTCACAGAGACCCCAGGCCAAGGAGACCTCGGAGGTCCCCACCCTCCACCAAATCCCAAGGGAGTACAATTCGATCATATGGACAACCTACCCACAGGTCCGCCCACCATCTTCCCACACCAGGCCACATACTTGCCCCCCTGTATCCAGCCTCATCTGCCCCACAGGCTCTCCACTGGTAGCCCCATTACCCTCCACCACTCTACCTCTGGCCCCCCAAATGCCTTATTCTCTAACCTTAGGAATTCTACAGTAACTCATTTCCCTAAAGTCCCATCTCTACCCACTCAGCCCCTGAAATAAGAAACAGTCATCTTAGCCATCCCCCTGCCTCCATGCCAGAGGATCCCTCTTCCCCCTAAGAAAGACTCCTAGAGTCTACAGGCACCATACGCCTCAATTTCCTGGCCCTGGGCTTCACTGTCCTCACATCTTGGAAGTTCTTCCTTCTGTAATCTAATCTAAATCTTTTGTGCTGCCATTCTGACCATTTTCTCTCTAAAGCAGAGAAGAATTGAATAGTCAAGTTAAATATAAATCAGCCCTCAGTGTCTCCAGAAATGGGCTTTTTCCAGCCTGCTGAGGACCTGGTGCTCACAGCCCCCTCCTTGACATCAAATCCCCTTTCCTAGAAGCCAGGAATTCTGGGTCCTGGGAAAAAGAAGGAAAAGATCAGGGTTGTGGGCACCAGGGTCCCAGG
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CTGGGAGCTCTTGGGGGTGATAGAGACTTTATATTCTCTTCTTTGTTCTCCTTGTCCAGCAGGTATTCAGAAAATGTTGACTGGCTTGGAGGGTGAATGGAGGGATGGGTGAATGGAGGGATGGATGAATGGATAGATGAGTGGATGGGTGGCTGGGGGCTTACATGCATTAATGAATGGGAGCATTGATAAATAGTGAATGAATAAATGTACGTATGGGAGGGTGGACTGGTGGGCAGATGAACAGGGGTTACAGAGTAGATGGAAGCAAATGGGTGAATAGGTAGATGGGTGAACTTATGTGGGTGAATGACTGGTCGGATGGGAAGTAAGTGGGTCAGGAGATGGGTGAGTGAGTATATTGAAGGAGGGAGTGGTTGAGTTGGTGGAAGGATAATGGATAGATGGTGGCTGAATGGATGCATGCATCCTTGTGTGCATGGGTAGATGGGGAGGGTGGGTGGGTGAGTGAATAGCTGGATGGAGGAGTTGAAGAGGATAGATGGGTGGAAGCATAGATGGGTGGTTTGAAGGGGAGAGTGGTTAAGCAGGGGGAGGATTGACAGGTGGGTGGATATAAGCCTTCATGCATGACTAGGTGGGCGTGTGATGCATAGATGAGTAAATAGATGGGGGAGTGGGTGGTGGATGTGTGCATAGGTTGGCTGAGGAGTGAGTGAATTGATGGGTGGGTGAGGAGAGAGAGGGGTTGAAAGGATGGATGGATGAGGGAACTGATGAAGACTGAAGGACAGAGTAAGTGGCTGTGGACAGTCCTGCCATATAGGTAGGCATCTAGTTCTCCTGCAGAGAACAGTAGCCCTGAAGATAGAAAATAGAAATGAAAATTCATAAGAAAAAAAAATGAAGGCCTAGGGAATAGGAAGATGACATGCTGGGGCCAGAAGGGTAGTGGGCACAAGATAGGGGACCAGAAGTCAATCCTGCCTCTGATTGCTCTGGTTACCTCAAAGACTTCTTCATCCAGAATACGGGCACCAAAGATGATCACTCCATGGGTGTCCAATACTGGACGAGCACTTCGGGGGAGAGGCCGGGTGACTCGCTTCTTGCAGTCAACAATGAGGGTGACAGACTGGCCCTTCACAGCCACAGCCACACGGTGCCACCTGGAAATGGTGGAAGAGGTTCAAGTGAACTCTTGGCTGACTGAAGTAGGGGAGTCAACATGGTTGGAGAGCAGTGATAAGAGTTGAAGCCAATGGTGATAAGAGCAGTAATAACAATGGCTACCATTTATTGAGTGTTTACAGTGCACCAGACACCATGCCGTCACTTTCTTATTTGTGCCAATTCTATTTAATGTCTATTTTACAGATGTAGAAACTGAGGCTCAAAAATTTTAAGTAACTTGCCCAAGGTACAGGCTAGTTCAACATGCAGAGAAGGCTGTACACTCTAAAGCCCAAACTCTGGACTAGAAGTGACTGAAGTTTGGGCAGTGGGTAGGTGTGGTGTGGCCCAAAGGGTCTCAAGGGTTTCACAGTTTAGAGTGTAGGGGTTTGGGGGCACTTCCTCCTGAAAGTGTGGGCCAGGCAGACCAGAGGAGCAAACAAACTTACTTGCCATCTGCTAGGCTGAGGCCTCGGAAGACTGGCTGAGAGGGAGGTTGAGGCCGCCCAGTCTGGTCTTCATACAGGAAGCGGACAGGTCGGCCCAGCTCCAGGCCCAGCTGTCGGACACCCTGGGCACTGTAGAGAGTCAGGAGGGGAGCTTGGAGACCAGGGCGGGTCCGGACAACAGTCAGCAGAGAGAAATCTTTGGGAAATCCTCCTAGTAACCGAGAGAGATACACACAGAGTGAGAGGCAAAGGGAGCCGCCACAACCCCTTTCCTCCTGGTGTCTGATCCTAGGCCCCATCCCATTACCTCCCCCCAGGCCTACCCCACCATGTCACCCATACCTGGGAAAAGCTGGCGAGTGGGTGCACTGAGCTGGGCAGGTCGTGCCACTCGGTAGGCCACATCAGCTGGACAGATGCCTTTCGCTCTCCGGACACCATCAGGGAGGGAGGGGAACCTCAGGGACCGGAGCACATCCACAGGGGGTGCACCTGGGAGAGTCCATGATTATCAGGAGAAGGGACATGCCCTCAGGAGGGCATAAATAGGGGACATTTGGGATCTAGAACTCAGCTTTCCAGGGCTCAAACTCCCTGCAAGGGAAAGGTCACCTCACCCTCACTTGCTTCTGAACAGTACCTGAATGGATGGGAAATGCAAAGGTACCTGGAGGCAGGGCAGCATCAGCTGGCATTCAACCCCATGACACTCCTGCCCCTGTCTCTCCTAGCATCTGCCTCTCTTACGCTCTCTCTTTGTCTTTTAGCTTATGAATCTGTCTCTCTCTGTACTCTCTGAATACTTCTCTCAACTCTTCATCTGTCTCCTGTCTCTCTCACTCTCTTACTCTCTCTGTCTCTTTATGTTGGTCTTTCTGTCTCTGTCTCTTCTGTCTTCCTCCATTTCTCTCACATTCTGTCCATCTTTTTCTCTCCCTCGCTCTCACTCTCTTTCCATATCTCTCACTCTCTGGGTCTCTGGCATCTGTCCCGTCTCCAGCACAAACAACATCTGGGCAATCGATCATCCTGGACACAGGAGGTGCAGGGGGGCCACGAGGAAGAGATCAGAGAAGCAGCTCTATGAGAGGGGCTTCAAGCAGCTACAGATCCCAGGTTTGGGGGATGGGGTGGGAACAACCCTGAGCATGCTGAGGAAAAAGATACAAGAAAGCTCTCCCAGGAGTCTGTGCCTCCTGGTTTAGGAGATGAGTTGGGGAGGGGTGGAGGAATGGGGGGCAGGGGCTGAAGCTGCCACGAGGAGCCGGAACAGGTCCAGGGCCCTGAGCCACACATCTGTGGATCCCATCAGAGTGCTTGCCCAGAACCCAGGCAAGCTCCCCACACCTGGAACCTCAATCCTGTCTCACCACCCCCACCAACCCCACCACCTGGGACCCAAAGATTCAAGATCCAGCCCACCAGCCCTGTCTAACTAGAACTCAGCTTCCTAGGGCTCAAACTCCCTGGAAAACAAAAGATCACCTTGCCCTCACTTGCTCCCCTATACACATACTCTTCACACCATCAGCTCCAGATTGGAAAAATCCCAAAGAGAGTTCCAGCAAAACTTTCATAGAAGTGTGGGGCAGGGCAGAGGCCAGAGCAATCAGGAGAGTGGAGCTGGGTGGGGTGGGTGAGGTGGGGCGGGCAGGCAGAGAAAAGGCCCTTTGAGTCCAGGAGCCGGGAAACCACGGCCTTCCCCCCCAACCCCCACCTAAGCCTGGCCCCTGCGCGTGTGGCAGCTCCGCAAACACCAACACACAAGGGCCGCTTTGAGAGACGAAGGGTGAGTGAGACAGAGACACAGAGACTCACAGAGACCCCAGGCCAAGGAGACCTCGGAGGTCCCCACCCTCCACCAAATCCCAAGGGAGTACAATTCGATCATATGGACAACCTACCCACAGGTCCGCCCACCATCTTCCCACACCAGGCCACATACTTGCCCCCCTGTATCCAGCCTCATCTGCCCCACAGGCTCTCCACTGGTAGCCCCATTACCCTCCACCACTCTACCTCTGGCCCCCCAAATGCCTTATTCTCTAACCTTAGGAATTCTACAGTAACTCATTTCCCTAAAGTCCCATCTCTACCCACTCAGCCCCTGAAATAAGAAACAGTCATCTTAGCCATCCCCCTGCCTCCATGCCAGAGGATCCCTCTTCCCCCTAAGAAAGACTCCTAGAGTCTACAGGCACCATACGCCTCAATTTCCTGGCCCTGGGCTTCACTGTCCTCACATCTTGGAAGTTCTTCCTTCTGTAATCTAATCTAAATCTTTTGTGCTGCCATTCTGACCATTTTCTCTCTAAAGCAGAGAAGAATTGAATAGTCAAGTTAAATATAAATCAGCCCTCAGTGTCTCCAGAAATGGGCTTTTTCCAGCCTGCTGAGGACCTGGTGCTCACAGCCCCCTCCTTGACATCAAATCCCCTTTCCTAGAAGCCAGGAATTCTGGGTCCTGGGAAAAAGAAGGAAAAGATCAGGGTTGTGGGCACCAGGGTCCCAGG
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Task1_train_10183
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This genomic variant is located on Chromosome 6, within the SLC39A7 (solute carrier family 39 member 7) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; not provided
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TGGGGCACTCACCCCGCCCGCTGTCGCCCATCCCGTCCCGTCCAGCCTCCCCTGGCTCCGGCTCCGGGGTTTGTTGTTCTCCGCCTGCCACCGCCGCCGCCGCCGCCGCTGCGGGATCCAGCCAGGGCCGTCGCCGCCGCCACCGGGACGCGACCCCACAATGCATTTCTTTTCGCACCCCCACCGGCCCACACTGCCCTGCGGCATGCCGCTGAGGGAGGAAGGGCGGGCGAGCGGCCCAAGACATGATCCCTGGCTGAGAGTAGGGATACCGAAGAGGTCCCAGGGATTCCCAAGGATTGATCGGAGGATTAGCTGAGCACGAGGAAGCCCCTGAGAGAAAGACTCTGGCCTGGATTGGGTCGAATTAAGCCCGTCGCTCTGCTCAGTACCAAAATGACAGCGCCAATGTGGCAGCCATCTTTGTACAGACGGGAAGTCTCGGCGCGAGTTCCCGCCCCCTCGTCTAGTTGGAAACCGAGGAGGCGGTCTCCTCCGGCCTGTTAGCCCGCCTCGCCCACCCTCCCCTCAAATCACCTCCACACTCGCGCATGCGTGTCAGTGCAGGATGGATTCGTCGCTACCGGAGTGCCGCCATATTGGTAAAGGCATTAGGGCGAAGGTGGAACGGAACTTCCTGTTCTCGCGGGATCTAAAGGCGGGACTGCCACGTCCAAGCAAACCGGGAAAGGAGAGGATCCCGGAGCCGGTGAGAATTCTCTGTTTTTTCTCTACCATCCTTTCCAGGCCTTTTCCTCACCTAATGAGTCGTAGAGACGAGGGCCCAGAGAGTCTGTAAAGTGGCTGGTGAAAGATTAGTGTCCCAGGGCCCTACATCCGGGAGGTGGTTCGGGATAAAGAGAACTAGTCTTGGGAACAATGTAGGTGGGAACTTAAGGGAATGGGAGAGCGGCCCATAGAGGTGGACGGAGGGCGCGATTGGAGTAAAGCGGACCCTGTGTAGGTATAGAGTTGAGTCAAGTGGAGTCACTGCCTCTGTCCCTCTGGTCAGCGTGATGGCCAGAGGCCTGGGGGCCCCCCACTGGGTGGCCGTGGGACTGCTGACCTGGGCGACCTTGGGGCTTCTGGTGGCTGGACTCGGGGGTCATGACGACCTGCACGACGATCTGCAAGAGGACTTCCATGGCCACAGCCACAGGCACTCACATGAAGATTTCCACCATGGCCACAGCCATGCCCATGGCCATGGCCACACTCACGAGAGCATCTGGCATGGACATACCCACGATCACGACCATGGACATTCACATGAGGATTTACACCATGGCCATAGCCATGGCTACTCCCATGAGAGCCTCTACCACAGAGGACATGGACATGACCATGAGCATAGCCATGGAGGCTATGGGGAGTCTGGGGCTCCAGGCATCAAGCAGGACCTGGATGCTGTCACTCTCTGGGCTTATGTGAGTCTCCAGGGGATGGGAGAGAGAAGGGCTGGTTCTGGATTGTTGGGAAACTCCACAGTACTTGACCTTGACTCTCCCTCACCAGGCACTGGGGGCCACAGTGCTGATCTCAGCAGCTCCATTTTTTGTCCTCTTCCTTATCCCCGTGGAGTCGAACTCTCCCCGGCATCGCTCTCTACTTCAGATCTTGCTCAGTTTTGCTTCCGGTGGGCTCCTGGGAGATGCTTTCCTGCACCTCATTCCTCATGCTCTTGGTAAGTAACCTCTGACTTCTACCTCAAATCTAACCTATTTCGTTCTTTGGAGGAAAAGGGTTCTTTCTCCTTTATGATCCCTGACCTTTCGATATTCCCCCAAATACACACTCATTGTGTCAGATATTCCCTCATCTGGTTTTCCCCCCTTCTTCCAGAACCTCATTCTCACCACACTCTGGAGCAACCCGGACATGGACACTCCCACAGTGGTGAGGAAGAGACAGATGGGGATGGGAGTTGGGGTGCTGGGGAAGGTCCGTCTCTCCCTATTCCTCACCTCCCGCACTTGAGGAGGAGGAGTCTGGAATGCACATCTCCCTTAATGTCTCAATGCCTCCATTCCCAGGCCAGGGCCCCATTCTGTCTGTGGGACTGTGGGTTCTCAGTGGAATTGTTGCCTTTCTTGTCGTGGAGAAATTTGTGAGACATGTGAAAGGAGGACATGGTCACAGTCATGGACATGGACACGCTCACAGTCATACACGTGGAAGTCATGGACATGGAAGACAAGGTGAGCCCAGGAACAACTTTCCTGAAAGCTGACTTGCCTGCCTCAGAATCTCCTCATCTTATGGCCCTCAGGAGGGAGAGGACATGTTGGAAGATCTGTTCTCCACTCTGACCAACTCTTTTCTTCCCTCAGAGCGTTCTACCAAGGAGAAGCAGAGCTCAGAGGAAGAAGAAAAGGAAACAAGAGGGGTTCAGAAGAGGCGAGGAGGGAGCACAGTACCCAAAGATGGGCCAGTGAGACCTCAGAACGCTGAAGAAGAAAAAAGAGGCTTAGGTAAGGGCCAGAGTTGGTGATAAATTTGGGCAAGGGACATCATCACAAATCACATGGAATATGTGCTGTGGGTAATGGCAGGTATCTGAGAAACACTAAAGGACTGGGTGTAAAGTGGTCTCTGAGGGGAGGTGTGAGAATAGCTGACCAAGACTGGAACAAGTGGTGATGGAAGCCTCTGATCATTTTCTCTTCTTGTCCTGTACAAGACCTGCGTGTGTCGGGGTACCTGAATCTGGCTGCTGACTTGGCACACAACTTCACTGATGGTCTGGCCATTGGGGCTTCCTTTCGAGGGGGCCGGGGACTAGGGATCCTGACCACAATGACTGTCCTGCTACATGAAGTGCCCCACGAGGTCGGAGACTTTGCCATCTTGGTCCAGTCTGGCTGCAGCAAAAAGCAGGTTGGTGATGTCTGCCAAACACAGCTGCCTCAAACCCTTTATCTCTCCTCACTCACCCTAAACCCAAACAGCCTCTTATTAGTTCCAAACAATTCATACTGTCATTGACAAGTCCTCTAGAAATGAGGGGGAAGAAGTTCTGGTTACTTTGTCCTTTAGCTCAGTATTTCTTAAACTGGTCTATAAACCATCTGAATGGTTTAGTGGAGTCTTACACACACACGCCTACTCAATCAGAAAGTCTGTGGAAAGGACCTCTGATCTCTTAAGATTTTTCAGAAATTGTCTATTCTAGACTGCTCCCTCTTCTCTTTTTATTTTGATGTTTAGTTTCCAAATCCATGTCCCCTATACCTATACCCCACCAGCCACTTCTAAACCACTGATAATCTTTAGCTATTGGTGAGTGCCTTTTTCTCTTTTCTGCCCATCAGGCGATGCGTCTGCAACTACTGACAGCAGTAGGGGCACTGGCAGGCACAGCCTGTGCCCTTCTCACTGAAGGAGGAGCAGTGGGCAGTGAAATTGCAGGTGGTGCAGGTCCTGGCTGGGTCCTGCCATTTACTGCAGGTGGCTTTATCTACGTAGCAACAGTGTCTGTGTTGCCCGAGCTGCTGAGGGAGGCATCACCATTGCAATCACTTCTGGAGGTGCTGGGGCTGCTGGGGGGAGTTATCATGATGGTGCTGATTGCCCACCTTGAGTGAGGGGTGGATAAACTACCCCTGCCCCAAACCTCTACCCCTAACTCCAGGTCAGGGGTGCGTAGAGGTTGGGGGCCCTGGCCAGGGACATCTGCCAAAGGAAGGAACTGTAGCCTGGGAGAATGGTTACTTTGGCATTAGGGCCTTCAAGGGCTGGCAGTCTTACAGAGGCTGGAGCGGTGAGAATGAGAGGCCAGAGGGACCATAGTGTTGGGCACTGTCTGACCATGTTGCATTTGGAAGGCTAAATGGGGCCATGAAGAAGGCTGGAAGGGACAGGGGGTGATGGCAGCCTACCTGGTGTCCCCTACCCCACCTGTTCTCGGAGAACCAAGTTGCTACACAGGAAGTTCTCCAAGGTCCAGTTTCCTTTCTCCCACCAGTTGGTGGAGGCTTCAGGGAAGACCAGAGTCCTGGACAGAGAGGGTAACAGGAGGAGTCGGGGATAAACATCAAACATCAATCGTGTGTCCTGATTTGGGAGTGATTGGGGGGATGGGGTGGGAGAGGGTTAG
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TGGGGCACTCACCCCGCCCGCTGTCGCCCATCCCGTCCCGTCCAGCCTCCCCTGGCTCCGGCTCCGGGGTTTGTTGTTCTCCGCCTGCCACCGCCGCCGCCGCCGCCGCTGCGGGATCCAGCCAGGGCCGTCGCCGCCGCCACCGGGACGCGACCCCACAATGCATTTCTTTTCGCACCCCCACCGGCCCACACTGCCCTGCGGCATGCCGCTGAGGGAGGAAGGGCGGGCGAGCGGCCCAAGACATGATCCCTGGCTGAGAGTAGGGATACCGAAGAGGTCCCAGGGATTCCCAAGGATTGATCGGAGGATTAGCTGAGCACGAGGAAGCCCCTGAGAGAAAGACTCTGGCCTGGATTGGGTCGAATTAAGCCCGTCGCTCTGCTCAGTACCAAAATGACAGCGCCAATGTGGCAGCCATCTTTGTACAGACGGGAAGTCTCGGCGCGAGTTCCCGCCCCCTCGTCTAGTTGGAAACCGAGGAGGCGGTCTCCTCCGGCCTGTTAGCCCGCCTCGCCCACCCTCCCCTCAAATCACCTCCACACTCGCGCATGCGTGTCAGTGCAGGATGGATTCGTCGCTACCGGAGTGCCGCCATATTGGTAAAGGCATTAGGGCGAAGGTGGAACGGAACTTCCTGTTCTCGCGGGATCTAAAGGCGGGACTGCCACGTCCAAGCAAACCGGGAAAGGAGAGGATCCCGGAGCCGGTGAGAATTCTCTGTTTTTTCTCTACCATCCTTTCCAGGCCTTTTCCTCACCTAATGAGTCGTAGAGACGAGGGCCCAGAGAGTCTGTAAAGTGGCTGGTGAAAGATTAGTGTCCCAGGGCCCTACATCCGGGAGGTGGTTCGGGATAAAGAGAACTAGTCTTGGGAACAATGTAGGTGGGAACTTAAGGGAATGGGAGAGCGGCCCATAGAGGTGGACGGAGGGCGCGATTGGAGTAAAGCGGACCCTGTGTAGGTATAGAGTTGAGTCAAGTGGAGTCACTGCCTCTGTCCCTCTGGTCAGCGTGATGGCCAGAGGCCTGGGGGCCCCCCACTGGGTGGCCGTGGGACTGCTGACCTGGGCGACCTTGGGGCTTCTGGTGGCTGGACTCGGGGGTCATGACGACCTGCACGACGATCTGCAAGAGGACTTCCATGGCCACAGCCACAGGCACTCACATGAAGATTTCCACCATGGCCACAGCCATGCCCATGGCCATGGCCACACTCACGAGAGCATCTGGCATGGACATACCCACGATCACGACCATGGACATTCACATGAGGATTTACACCATGGCCATAGCCATGGCTACTCCCATGAGAGCCTCTACCACAGAGGACATGGACATGACCATGAGCATAGCCATGGAGGCTATGGGGAGTCTGGGGCTCCAGGCATCAAGCAGGACCTGGATGCTGTCACTCTCTGGGCTTATGTGAGTCTCCAGGGGATGGGAGAGAGAAGGGCTGGTTCTGGATTGTTGGGAAACTCCACAGTACTTGACCTTGACTCTCCCTCACCAGGCACTGGGGGCCACAGTGCTGATCTCAGCAGCTCCATTTTTTGTCCTCTTCCTTATCCCCGTGGAGTCGAACTCTCCCCGGCATCGCTCTCTACTTCAGATCTTGCTCAGTTTTGCTTCCGGTGGGCTCCTGGGAGATGCTTTCCTGCACCTCATTCCTCATGCTCTTGGTAAGTAACCTCTGACTTCTACCTCAAATCTAACCTATTTCGTTCTTTGGAGGAAAAGGGTTCTTTCTCCTTTATGATCCCTGACCTTTCGATATTCCCCCAAATACACACTCATTGTGTCAGATATTCCCTCATCTGGTTTTCCCCCCTTCTTCCAGAACCTCATTCTCACCACACTCTGGAGCAACCCGGACATGGACACTCCCACAGTGGTGAGGAAGAGACAGATGGGGATGGGAGTTGGGGTGCTGGGGAAGGTCCGTCTCTCCCTATTCCTCACCTCCCGCACTTGAGGAGGAGGAGTCTGGAATGCACATCTCCCTTAATGTCTCAATGCCTCCATTCCCAGGCCAGGGCCCCATTCCGTCTGTGGGACTGTGGGTTCTCAGTGGAATTGTTGCCTTTCTTGTCGTGGAGAAATTTGTGAGACATGTGAAAGGAGGACATGGTCACAGTCATGGACATGGACACGCTCACAGTCATACACGTGGAAGTCATGGACATGGAAGACAAGGTGAGCCCAGGAACAACTTTCCTGAAAGCTGACTTGCCTGCCTCAGAATCTCCTCATCTTATGGCCCTCAGGAGGGAGAGGACATGTTGGAAGATCTGTTCTCCACTCTGACCAACTCTTTTCTTCCCTCAGAGCGTTCTACCAAGGAGAAGCAGAGCTCAGAGGAAGAAGAAAAGGAAACAAGAGGGGTTCAGAAGAGGCGAGGAGGGAGCACAGTACCCAAAGATGGGCCAGTGAGACCTCAGAACGCTGAAGAAGAAAAAAGAGGCTTAGGTAAGGGCCAGAGTTGGTGATAAATTTGGGCAAGGGACATCATCACAAATCACATGGAATATGTGCTGTGGGTAATGGCAGGTATCTGAGAAACACTAAAGGACTGGGTGTAAAGTGGTCTCTGAGGGGAGGTGTGAGAATAGCTGACCAAGACTGGAACAAGTGGTGATGGAAGCCTCTGATCATTTTCTCTTCTTGTCCTGTACAAGACCTGCGTGTGTCGGGGTACCTGAATCTGGCTGCTGACTTGGCACACAACTTCACTGATGGTCTGGCCATTGGGGCTTCCTTTCGAGGGGGCCGGGGACTAGGGATCCTGACCACAATGACTGTCCTGCTACATGAAGTGCCCCACGAGGTCGGAGACTTTGCCATCTTGGTCCAGTCTGGCTGCAGCAAAAAGCAGGTTGGTGATGTCTGCCAAACACAGCTGCCTCAAACCCTTTATCTCTCCTCACTCACCCTAAACCCAAACAGCCTCTTATTAGTTCCAAACAATTCATACTGTCATTGACAAGTCCTCTAGAAATGAGGGGGAAGAAGTTCTGGTTACTTTGTCCTTTAGCTCAGTATTTCTTAAACTGGTCTATAAACCATCTGAATGGTTTAGTGGAGTCTTACACACACACGCCTACTCAATCAGAAAGTCTGTGGAAAGGACCTCTGATCTCTTAAGATTTTTCAGAAATTGTCTATTCTAGACTGCTCCCTCTTCTCTTTTTATTTTGATGTTTAGTTTCCAAATCCATGTCCCCTATACCTATACCCCACCAGCCACTTCTAAACCACTGATAATCTTTAGCTATTGGTGAGTGCCTTTTTCTCTTTTCTGCCCATCAGGCGATGCGTCTGCAACTACTGACAGCAGTAGGGGCACTGGCAGGCACAGCCTGTGCCCTTCTCACTGAAGGAGGAGCAGTGGGCAGTGAAATTGCAGGTGGTGCAGGTCCTGGCTGGGTCCTGCCATTTACTGCAGGTGGCTTTATCTACGTAGCAACAGTGTCTGTGTTGCCCGAGCTGCTGAGGGAGGCATCACCATTGCAATCACTTCTGGAGGTGCTGGGGCTGCTGGGGGGAGTTATCATGATGGTGCTGATTGCCCACCTTGAGTGAGGGGTGGATAAACTACCCCTGCCCCAAACCTCTACCCCTAACTCCAGGTCAGGGGTGCGTAGAGGTTGGGGGCCCTGGCCAGGGACATCTGCCAAAGGAAGGAACTGTAGCCTGGGAGAATGGTTACTTTGGCATTAGGGCCTTCAAGGGCTGGCAGTCTTACAGAGGCTGGAGCGGTGAGAATGAGAGGCCAGAGGGACCATAGTGTTGGGCACTGTCTGACCATGTTGCATTTGGAAGGCTAAATGGGGCCATGAAGAAGGCTGGAAGGGACAGGGGGTGATGGCAGCCTACCTGGTGTCCCCTACCCCACCTGTTCTCGGAGAACCAAGTTGCTACACAGGAAGTTCTCCAAGGTCCAGTTTCCTTTCTCCCACCAGTTGGTGGAGGCTTCAGGGAAGACCAGAGTCCTGGACAGAGAGGGTAACAGGAGGAGTCGGGGATAAACATCAAACATCAATCGTGTGTCCTGATTTGGGAGTGATTGGGGGGATGGGGTGGGAGAGGGTTAG
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Task1_train_10184
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This mutation is located in gene SLC39A7 (solute carrier family 39 member 7) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Agammaglobulinemia 9, autosomal recessive
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GAGGGCCCAGAGAGTCTGTAAAGTGGCTGGTGAAAGATTAGTGTCCCAGGGCCCTACATCCGGGAGGTGGTTCGGGATAAAGAGAACTAGTCTTGGGAACAATGTAGGTGGGAACTTAAGGGAATGGGAGAGCGGCCCATAGAGGTGGACGGAGGGCGCGATTGGAGTAAAGCGGACCCTGTGTAGGTATAGAGTTGAGTCAAGTGGAGTCACTGCCTCTGTCCCTCTGGTCAGCGTGATGGCCAGAGGCCTGGGGGCCCCCCACTGGGTGGCCGTGGGACTGCTGACCTGGGCGACCTTGGGGCTTCTGGTGGCTGGACTCGGGGGTCATGACGACCTGCACGACGATCTGCAAGAGGACTTCCATGGCCACAGCCACAGGCACTCACATGAAGATTTCCACCATGGCCACAGCCATGCCCATGGCCATGGCCACACTCACGAGAGCATCTGGCATGGACATACCCACGATCACGACCATGGACATTCACATGAGGATTTACACCATGGCCATAGCCATGGCTACTCCCATGAGAGCCTCTACCACAGAGGACATGGACATGACCATGAGCATAGCCATGGAGGCTATGGGGAGTCTGGGGCTCCAGGCATCAAGCAGGACCTGGATGCTGTCACTCTCTGGGCTTATGTGAGTCTCCAGGGGATGGGAGAGAGAAGGGCTGGTTCTGGATTGTTGGGAAACTCCACAGTACTTGACCTTGACTCTCCCTCACCAGGCACTGGGGGCCACAGTGCTGATCTCAGCAGCTCCATTTTTTGTCCTCTTCCTTATCCCCGTGGAGTCGAACTCTCCCCGGCATCGCTCTCTACTTCAGATCTTGCTCAGTTTTGCTTCCGGTGGGCTCCTGGGAGATGCTTTCCTGCACCTCATTCCTCATGCTCTTGGTAAGTAACCTCTGACTTCTACCTCAAATCTAACCTATTTCGTTCTTTGGAGGAAAAGGGTTCTTTCTCCTTTATGATCCCTGACCTTTCGATATTCCCCCAAATACACACTCATTGTGTCAGATATTCCCTCATCTGGTTTTCCCCCCTTCTTCCAGAACCTCATTCTCACCACACTCTGGAGCAACCCGGACATGGACACTCCCACAGTGGTGAGGAAGAGACAGATGGGGATGGGAGTTGGGGTGCTGGGGAAGGTCCGTCTCTCCCTATTCCTCACCTCCCGCACTTGAGGAGGAGGAGTCTGGAATGCACATCTCCCTTAATGTCTCAATGCCTCCATTCCCAGGCCAGGGCCCCATTCTGTCTGTGGGACTGTGGGTTCTCAGTGGAATTGTTGCCTTTCTTGTCGTGGAGAAATTTGTGAGACATGTGAAAGGAGGACATGGTCACAGTCATGGACATGGACACGCTCACAGTCATACACGTGGAAGTCATGGACATGGAAGACAAGGTGAGCCCAGGAACAACTTTCCTGAAAGCTGACTTGCCTGCCTCAGAATCTCCTCATCTTATGGCCCTCAGGAGGGAGAGGACATGTTGGAAGATCTGTTCTCCACTCTGACCAACTCTTTTCTTCCCTCAGAGCGTTCTACCAAGGAGAAGCAGAGCTCAGAGGAAGAAGAAAAGGAAACAAGAGGGGTTCAGAAGAGGCGAGGAGGGAGCACAGTACCCAAAGATGGGCCAGTGAGACCTCAGAACGCTGAAGAAGAAAAAAGAGGCTTAGGTAAGGGCCAGAGTTGGTGATAAATTTGGGCAAGGGACATCATCACAAATCACATGGAATATGTGCTGTGGGTAATGGCAGGTATCTGAGAAACACTAAAGGACTGGGTGTAAAGTGGTCTCTGAGGGGAGGTGTGAGAATAGCTGACCAAGACTGGAACAAGTGGTGATGGAAGCCTCTGATCATTTTCTCTTCTTGTCCTGTACAAGACCTGCGTGTGTCGGGGTACCTGAATCTGGCTGCTGACTTGGCACACAACTTCACTGATGGTCTGGCCATTGGGGCTTCCTTTCGAGGGGGCCGGGGACTAGGGATCCTGACCACAATGACTGTCCTGCTACATGAAGTGCCCCACGAGGTCGGAGACTTTGCCATCTTGGTCCAGTCTGGCTGCAGCAAAAAGCAGGTTGGTGATGTCTGCCAAACACAGCTGCCTCAAACCCTTTATCTCTCCTCACTCACCCTAAACCCAAACAGCCTCTTATTAGTTCCAAACAATTCATACTGTCATTGACAAGTCCTCTAGAAATGAGGGGGAAGAAGTTCTGGTTACTTTGTCCTTTAGCTCAGTATTTCTTAAACTGGTCTATAAACCATCTGAATGGTTTAGTGGAGTCTTACACACACACGCCTACTCAATCAGAAAGTCTGTGGAAAGGACCTCTGATCTCTTAAGATTTTTCAGAAATTGTCTATTCTAGACTGCTCCCTCTTCTCTTTTTATTTTGATGTTTAGTTTCCAAATCCATGTCCCCTATACCTATACCCCACCAGCCACTTCTAAACCACTGATAATCTTTAGCTATTGGTGAGTGCCTTTTTCTCTTTTCTGCCCATCAGGCGATGCGTCTGCAACTACTGACAGCAGTAGGGGCACTGGCAGGCACAGCCTGTGCCCTTCTCACTGAAGGAGGAGCAGTGGGCAGTGAAATTGCAGGTGGTGCAGGTCCTGGCTGGGTCCTGCCATTTACTGCAGGTGGCTTTATCTACGTAGCAACAGTGTCTGTGTTGCCCGAGCTGCTGAGGGAGGCATCACCATTGCAATCACTTCTGGAGGTGCTGGGGCTGCTGGGGGGAGTTATCATGATGGTGCTGATTGCCCACCTTGAGTGAGGGGTGGATAAACTACCCCTGCCCCAAACCTCTACCCCTAACTCCAGGTCAGGGGTGCGTAGAGGTTGGGGGCCCTGGCCAGGGACATCTGCCAAAGGAAGGAACTGTAGCCTGGGAGAATGGTTACTTTGGCATTAGGGCCTTCAAGGGCTGGCAGTCTTACAGAGGCTGGAGCGGTGAGAATGAGAGGCCAGAGGGACCATAGTGTTGGGCACTGTCTGACCATGTTGCATTTGGAAGGCTAAATGGGGCCATGAAGAAGGCTGGAAGGGACAGGGGGTGATGGCAGCCTACCTGGTGTCCCCTACCCCACCTGTTCTCGGAGAACCAAGTTGCTACACAGGAAGTTCTCCAAGGTCCAGTTTCCTTTCTCCCACCAGTTGGTGGAGGCTTCAGGGAAGACCAGAGTCCTGGACAGAGAGGGTAACAGGAGGAGTCGGGGATAAACATCAAACATCAATCGTGTGTCCTGATTTGGGAGTGATTGGGGGGATGGGGTGGGAGAGGGTTAGTTGGTATTCTCATGGCCTGATTTTTTTTGTTTCTATTCCTTTTATATCACTGTGTTTGAATCGAGGGGGAGGGGTGGTAACCGGAAATAAAGACCTCCGATCTTCCGCCCCACATGCAGTCTTTGTCTTTTTGGGGGGAATGGGGCCCCTTGTCTTCTCCACACCCGGGGCCCCTAAGCAGCAGTGTCGGGCCACGCCCCCTCGGTGGGAGGTCGGCCTGCGCTGGTGGCCGCAGATGGCCTAAGGCTGGCGGGCCTTTGATTGGCCCCGGCTTTGCCCTTGCCACGCCCCTCTGCGCTGGGATTGGCTTAGTGCTGGGATTCCCACCCACCCACAGCCCGCCATGGCGTCTCAGCTCCAGAACCGACTCCGCTCCGCACTGGCCTTGGTCACAGGTTGAGGGGGTTCTTTCCCCGGGCGGTTTGGGGTATTGGAGTGAGGTCAGGGGCGTGCCCTTGGAGTGCGCGGCCGCTGTGACCTCTGGCCCCTTACCCACATTTTACTTTCTGCCCTGTGACCTCTGATCCCTGCCCTCTCCTCCCCGTGCCCGGTCCGGCGTGTTCTGTCCTACCTCAGGTGCGGGGAGCGGCATCGGCCGAGCGGTCAGTGTACGCCTGGCCGGAGAGGGGGCCACCGTAGCTGCCTGCGACCTGGACCGGGCAGCGGCACAGGAGACGGTGCGGCTGCTGGGCGGGCCAGGGAGCAAGGAGGGGCCGCCCCGAGGGAACCATGCTGCCTTCCAGGCTGACGTGTCTGAGGCCAGGGCCGCCAGGTGCCT
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GAGGGCCCAGAGAGTCTGTAAAGTGGCTGGTGAAAGATTAGTGTCCCAGGGCCCTACATCCGGGAGGTGGTTCGGGATAAAGAGAACTAGTCTTGGGAACAATGTAGGTGGGAACTTAAGGGAATGGGAGAGCGGCCCATAGAGGTGGACGGAGGGCGCGATTGGAGTAAAGCGGACCCTGTGTAGGTATAGAGTTGAGTCAAGTGGAGTCACTGCCTCTGTCCCTCTGGTCAGCGTGATGGCCAGAGGCCTGGGGGCCCCCCACTGGGTGGCCGTGGGACTGCTGACCTGGGCGACCTTGGGGCTTCTGGTGGCTGGACTCGGGGGTCATGACGACCTGCACGACGATCTGCAAGAGGACTTCCATGGCCACAGCCACAGGCACTCACATGAAGATTTCCACCATGGCCACAGCCATGCCCATGGCCATGGCCACACTCACGAGAGCATCTGGCATGGACATACCCACGATCACGACCATGGACATTCACATGAGGATTTACACCATGGCCATAGCCATGGCTACTCCCATGAGAGCCTCTACCACAGAGGACATGGACATGACCATGAGCATAGCCATGGAGGCTATGGGGAGTCTGGGGCTCCAGGCATCAAGCAGGACCTGGATGCTGTCACTCTCTGGGCTTATGTGAGTCTCCAGGGGATGGGAGAGAGAAGGGCTGGTTCTGGATTGTTGGGAAACTCCACAGTACTTGACCTTGACTCTCCCTCACCAGGCACTGGGGGCCACAGTGCTGATCTCAGCAGCTCCATTTTTTGTCCTCTTCCTTATCCCCGTGGAGTCGAACTCTCCCCGGCATCGCTCTCTACTTCAGATCTTGCTCAGTTTTGCTTCCGGTGGGCTCCTGGGAGATGCTTTCCTGCACCTCATTCCTCATGCTCTTGGTAAGTAACCTCTGACTTCTACCTCAAATCTAACCTATTTCGTTCTTTGGAGGAAAAGGGTTCTTTCTCCTTTATGATCCCTGACCTTTCGATATTCCCCCAAATACACACTCATTGTGTCAGATATTCCCTCATCTGGTTTTCCCCCCTTCTTCCAGAACCTCATTCTCACCACACTCTGGAGCAACCCGGACATGGACACTCCCACAGTGGTGAGGAAGAGACAGATGGGGATGGGAGTTGGGGTGCTGGGGAAGGTCCGTCTCTCCCTATTCCTCACCTCCCGCACTTGAGGAGGAGGAGTCTGGAATGCACATCTCCCTTAATGTCTCAATGCCTCCATTCCCAGGCCAGGGCCCCATTCTGTCTGTGGGACTGTGGGTTCTCAGTGGAATTGTTGCCTTTCTTGTCGTGGAGAAATTTGTGAGACATGTGAAAGGAGGACATGGTCACAGTCATGGACATGGACACGCTCACAGTCATACACGTGGAAGTCATGGACATGGAAGACAAGGTGAGCCCAGGAACAACTTTCCTGAAAGCTGACTTGCCTGCCTCAGAATCTCCTCATCTTATGGCCCTCAGGAGGGAGAGGACATGTTGGAAGATCTGTTCTCCACTCTGACCAACTCTTTTCTTCCCTCAGAGCGTTCTACCAAGGAGAAGCAGAGCTCAGAGGAAGAAGAAAAGGAAACAAGAGGGGTTCAGAAGAGGCGAGGAGGGAGCACAGTACCCAAAGATGGGCCAGTGAGACCTCAGAACGCTGAAGAAGAAAAAAGAGGCTTAGGTAAGGGCCAGAGTTGGTGATAAATTTGGGCAAGGGACATCATCACAAATCACATGGAATATGTGCTGTGGGTAATGGCAGGTATCTGAGAAACACTAAAGGACTGGGTGTAAAGTGGTCTCTGAGGGGAGGTGTGAGAATAGCTGACCAAGACTGGAACAAGTGGTGATGGAAGCCTCTGATCATTTTCTCTTCTTGTCCTGTACAAGACCTGCGTGTGTCGGGGTACCTGAATCTGGCTGCTGACTTGGCACACAACTTCACTGATGGTCTGGCCATTGGGGCTTCCTTTCGAGGGGGCCGGGGACTAGGGATCCTGACCACAATGACTGTCCTGCTACATGAAGTGCCCCACAAGGTCGGAGACTTTGCCATCTTGGTCCAGTCTGGCTGCAGCAAAAAGCAGGTTGGTGATGTCTGCCAAACACAGCTGCCTCAAACCCTTTATCTCTCCTCACTCACCCTAAACCCAAACAGCCTCTTATTAGTTCCAAACAATTCATACTGTCATTGACAAGTCCTCTAGAAATGAGGGGGAAGAAGTTCTGGTTACTTTGTCCTTTAGCTCAGTATTTCTTAAACTGGTCTATAAACCATCTGAATGGTTTAGTGGAGTCTTACACACACACGCCTACTCAATCAGAAAGTCTGTGGAAAGGACCTCTGATCTCTTAAGATTTTTCAGAAATTGTCTATTCTAGACTGCTCCCTCTTCTCTTTTTATTTTGATGTTTAGTTTCCAAATCCATGTCCCCTATACCTATACCCCACCAGCCACTTCTAAACCACTGATAATCTTTAGCTATTGGTGAGTGCCTTTTTCTCTTTTCTGCCCATCAGGCGATGCGTCTGCAACTACTGACAGCAGTAGGGGCACTGGCAGGCACAGCCTGTGCCCTTCTCACTGAAGGAGGAGCAGTGGGCAGTGAAATTGCAGGTGGTGCAGGTCCTGGCTGGGTCCTGCCATTTACTGCAGGTGGCTTTATCTACGTAGCAACAGTGTCTGTGTTGCCCGAGCTGCTGAGGGAGGCATCACCATTGCAATCACTTCTGGAGGTGCTGGGGCTGCTGGGGGGAGTTATCATGATGGTGCTGATTGCCCACCTTGAGTGAGGGGTGGATAAACTACCCCTGCCCCAAACCTCTACCCCTAACTCCAGGTCAGGGGTGCGTAGAGGTTGGGGGCCCTGGCCAGGGACATCTGCCAAAGGAAGGAACTGTAGCCTGGGAGAATGGTTACTTTGGCATTAGGGCCTTCAAGGGCTGGCAGTCTTACAGAGGCTGGAGCGGTGAGAATGAGAGGCCAGAGGGACCATAGTGTTGGGCACTGTCTGACCATGTTGCATTTGGAAGGCTAAATGGGGCCATGAAGAAGGCTGGAAGGGACAGGGGGTGATGGCAGCCTACCTGGTGTCCCCTACCCCACCTGTTCTCGGAGAACCAAGTTGCTACACAGGAAGTTCTCCAAGGTCCAGTTTCCTTTCTCCCACCAGTTGGTGGAGGCTTCAGGGAAGACCAGAGTCCTGGACAGAGAGGGTAACAGGAGGAGTCGGGGATAAACATCAAACATCAATCGTGTGTCCTGATTTGGGAGTGATTGGGGGGATGGGGTGGGAGAGGGTTAGTTGGTATTCTCATGGCCTGATTTTTTTTGTTTCTATTCCTTTTATATCACTGTGTTTGAATCGAGGGGGAGGGGTGGTAACCGGAAATAAAGACCTCCGATCTTCCGCCCCACATGCAGTCTTTGTCTTTTTGGGGGGAATGGGGCCCCTTGTCTTCTCCACACCCGGGGCCCCTAAGCAGCAGTGTCGGGCCACGCCCCCTCGGTGGGAGGTCGGCCTGCGCTGGTGGCCGCAGATGGCCTAAGGCTGGCGGGCCTTTGATTGGCCCCGGCTTTGCCCTTGCCACGCCCCTCTGCGCTGGGATTGGCTTAGTGCTGGGATTCCCACCCACCCACAGCCCGCCATGGCGTCTCAGCTCCAGAACCGACTCCGCTCCGCACTGGCCTTGGTCACAGGTTGAGGGGGTTCTTTCCCCGGGCGGTTTGGGGTATTGGAGTGAGGTCAGGGGCGTGCCCTTGGAGTGCGCGGCCGCTGTGACCTCTGGCCCCTTACCCACATTTTACTTTCTGCCCTGTGACCTCTGATCCCTGCCCTCTCCTCCCCGTGCCCGGTCCGGCGTGTTCTGTCCTACCTCAGGTGCGGGGAGCGGCATCGGCCGAGCGGTCAGTGTACGCCTGGCCGGAGAGGGGGCCACCGTAGCTGCCTGCGACCTGGACCGGGCAGCGGCACAGGAGACGGTGCGGCTGCTGGGCGGGCCAGGGAGCAAGGAGGGGCCGCCCCGAGGGAACCATGCTGCCTTCCAGGCTGACGTGTCTGAGGCCAGGGCCGCCAGGTGCCT
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Task1_train_10185
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Here is a genetic alteration in SLC39A7 (solute carrier family 39 member 7) on Chromosome 6. 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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TGAGAGCCTCTACCACAGAGGACATGGACATGACCATGAGCATAGCCATGGAGGCTATGGGGAGTCTGGGGCTCCAGGCATCAAGCAGGACCTGGATGCTGTCACTCTCTGGGCTTATGTGAGTCTCCAGGGGATGGGAGAGAGAAGGGCTGGTTCTGGATTGTTGGGAAACTCCACAGTACTTGACCTTGACTCTCCCTCACCAGGCACTGGGGGCCACAGTGCTGATCTCAGCAGCTCCATTTTTTGTCCTCTTCCTTATCCCCGTGGAGTCGAACTCTCCCCGGCATCGCTCTCTACTTCAGATCTTGCTCAGTTTTGCTTCCGGTGGGCTCCTGGGAGATGCTTTCCTGCACCTCATTCCTCATGCTCTTGGTAAGTAACCTCTGACTTCTACCTCAAATCTAACCTATTTCGTTCTTTGGAGGAAAAGGGTTCTTTCTCCTTTATGATCCCTGACCTTTCGATATTCCCCCAAATACACACTCATTGTGTCAGATATTCCCTCATCTGGTTTTCCCCCCTTCTTCCAGAACCTCATTCTCACCACACTCTGGAGCAACCCGGACATGGACACTCCCACAGTGGTGAGGAAGAGACAGATGGGGATGGGAGTTGGGGTGCTGGGGAAGGTCCGTCTCTCCCTATTCCTCACCTCCCGCACTTGAGGAGGAGGAGTCTGGAATGCACATCTCCCTTAATGTCTCAATGCCTCCATTCCCAGGCCAGGGCCCCATTCTGTCTGTGGGACTGTGGGTTCTCAGTGGAATTGTTGCCTTTCTTGTCGTGGAGAAATTTGTGAGACATGTGAAAGGAGGACATGGTCACAGTCATGGACATGGACACGCTCACAGTCATACACGTGGAAGTCATGGACATGGAAGACAAGGTGAGCCCAGGAACAACTTTCCTGAAAGCTGACTTGCCTGCCTCAGAATCTCCTCATCTTATGGCCCTCAGGAGGGAGAGGACATGTTGGAAGATCTGTTCTCCACTCTGACCAACTCTTTTCTTCCCTCAGAGCGTTCTACCAAGGAGAAGCAGAGCTCAGAGGAAGAAGAAAAGGAAACAAGAGGGGTTCAGAAGAGGCGAGGAGGGAGCACAGTACCCAAAGATGGGCCAGTGAGACCTCAGAACGCTGAAGAAGAAAAAAGAGGCTTAGGTAAGGGCCAGAGTTGGTGATAAATTTGGGCAAGGGACATCATCACAAATCACATGGAATATGTGCTGTGGGTAATGGCAGGTATCTGAGAAACACTAAAGGACTGGGTGTAAAGTGGTCTCTGAGGGGAGGTGTGAGAATAGCTGACCAAGACTGGAACAAGTGGTGATGGAAGCCTCTGATCATTTTCTCTTCTTGTCCTGTACAAGACCTGCGTGTGTCGGGGTACCTGAATCTGGCTGCTGACTTGGCACACAACTTCACTGATGGTCTGGCCATTGGGGCTTCCTTTCGAGGGGGCCGGGGACTAGGGATCCTGACCACAATGACTGTCCTGCTACATGAAGTGCCCCACGAGGTCGGAGACTTTGCCATCTTGGTCCAGTCTGGCTGCAGCAAAAAGCAGGTTGGTGATGTCTGCCAAACACAGCTGCCTCAAACCCTTTATCTCTCCTCACTCACCCTAAACCCAAACAGCCTCTTATTAGTTCCAAACAATTCATACTGTCATTGACAAGTCCTCTAGAAATGAGGGGGAAGAAGTTCTGGTTACTTTGTCCTTTAGCTCAGTATTTCTTAAACTGGTCTATAAACCATCTGAATGGTTTAGTGGAGTCTTACACACACACGCCTACTCAATCAGAAAGTCTGTGGAAAGGACCTCTGATCTCTTAAGATTTTTCAGAAATTGTCTATTCTAGACTGCTCCCTCTTCTCTTTTTATTTTGATGTTTAGTTTCCAAATCCATGTCCCCTATACCTATACCCCACCAGCCACTTCTAAACCACTGATAATCTTTAGCTATTGGTGAGTGCCTTTTTCTCTTTTCTGCCCATCAGGCGATGCGTCTGCAACTACTGACAGCAGTAGGGGCACTGGCAGGCACAGCCTGTGCCCTTCTCACTGAAGGAGGAGCAGTGGGCAGTGAAATTGCAGGTGGTGCAGGTCCTGGCTGGGTCCTGCCATTTACTGCAGGTGGCTTTATCTACGTAGCAACAGTGTCTGTGTTGCCCGAGCTGCTGAGGGAGGCATCACCATTGCAATCACTTCTGGAGGTGCTGGGGCTGCTGGGGGGAGTTATCATGATGGTGCTGATTGCCCACCTTGAGTGAGGGGTGGATAAACTACCCCTGCCCCAAACCTCTACCCCTAACTCCAGGTCAGGGGTGCGTAGAGGTTGGGGGCCCTGGCCAGGGACATCTGCCAAAGGAAGGAACTGTAGCCTGGGAGAATGGTTACTTTGGCATTAGGGCCTTCAAGGGCTGGCAGTCTTACAGAGGCTGGAGCGGTGAGAATGAGAGGCCAGAGGGACCATAGTGTTGGGCACTGTCTGACCATGTTGCATTTGGAAGGCTAAATGGGGCCATGAAGAAGGCTGGAAGGGACAGGGGGTGATGGCAGCCTACCTGGTGTCCCCTACCCCACCTGTTCTCGGAGAACCAAGTTGCTACACAGGAAGTTCTCCAAGGTCCAGTTTCCTTTCTCCCACCAGTTGGTGGAGGCTTCAGGGAAGACCAGAGTCCTGGACAGAGAGGGTAACAGGAGGAGTCGGGGATAAACATCAAACATCAATCGTGTGTCCTGATTTGGGAGTGATTGGGGGGATGGGGTGGGAGAGGGTTAGTTGGTATTCTCATGGCCTGATTTTTTTTGTTTCTATTCCTTTTATATCACTGTGTTTGAATCGAGGGGGAGGGGTGGTAACCGGAAATAAAGACCTCCGATCTTCCGCCCCACATGCAGTCTTTGTCTTTTTGGGGGGAATGGGGCCCCTTGTCTTCTCCACACCCGGGGCCCCTAAGCAGCAGTGTCGGGCCACGCCCCCTCGGTGGGAGGTCGGCCTGCGCTGGTGGCCGCAGATGGCCTAAGGCTGGCGGGCCTTTGATTGGCCCCGGCTTTGCCCTTGCCACGCCCCTCTGCGCTGGGATTGGCTTAGTGCTGGGATTCCCACCCACCCACAGCCCGCCATGGCGTCTCAGCTCCAGAACCGACTCCGCTCCGCACTGGCCTTGGTCACAGGTTGAGGGGGTTCTTTCCCCGGGCGGTTTGGGGTATTGGAGTGAGGTCAGGGGCGTGCCCTTGGAGTGCGCGGCCGCTGTGACCTCTGGCCCCTTACCCACATTTTACTTTCTGCCCTGTGACCTCTGATCCCTGCCCTCTCCTCCCCGTGCCCGGTCCGGCGTGTTCTGTCCTACCTCAGGTGCGGGGAGCGGCATCGGCCGAGCGGTCAGTGTACGCCTGGCCGGAGAGGGGGCCACCGTAGCTGCCTGCGACCTGGACCGGGCAGCGGCACAGGAGACGGTGCGGCTGCTGGGCGGGCCAGGGAGCAAGGAGGGGCCGCCCCGAGGGAACCATGCTGCCTTCCAGGCTGACGTGTCTGAGGCCAGGGCCGCCAGGTGCCTGCTGGAACAAGTGCAGGTGAACGCTAGGCCACTTTCCCCCTCTAAAGCTCTGATATTGCCTCCACTGCCCCGGCTTTTTGTGGGGGGTTTTTGATGCGTAACCTCCCCCTCCCATAGGCCTGCTTTTCTCGCCCACCATCTGTCGTTGTGTCCTGTGCGGGCATCACCCAGGATGAGTTTCTGCTGCACATGTCTGAGGATGACTGGGACAAAGTCATAGCTGTCAACCTCAAGGTGGCGATCTCTGAACCTGCGACGTTTGGCCCCCTTAGCCTGGGGAGGGAGTTGGAGGAGGGCTGTCACCCCAGCTGATCTTTTCTCCCTTGTTACCCTTTCCCGCCAGGGCACCTTCCTAGTCACTCAGGCTGCAGCACAAGCCCTGGTGTCCAATGGTTGTCGTGGTTCCATCATCAACATCAGTAGCATCGTAGGAAAGGTCAGGTTGAGTTGGACGAGGTCAGCCAGCCAAGTGGTATAGAGAGGAGAACCCCTCCTTGAGACTCCTGACTCATTCCACATCTCTGACTCACC
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TGAGAGCCTCTACCACAGAGGACATGGACATGACCATGAGCATAGCCATGGAGGCTATGGGGAGTCTGGGGCTCCAGGCATCAAGCAGGACCTGGATGCTGTCACTCTCTGGGCTTATGTGAGTCTCCAGGGGATGGGAGAGAGAAGGGCTGGTTCTGGATTGTTGGGAAACTCCACAGTACTTGACCTTGACTCTCCCTCACCAGGCACTGGGGGCCACAGTGCTGATCTCAGCAGCTCCATTTTTTGTCCTCTTCCTTATCCCCGTGGAGTCGAACTCTCCCCGGCATCGCTCTCTACTTCAGATCTTGCTCAGTTTTGCTTCCGGTGGGCTCCTGGGAGATGCTTTCCTGCACCTCATTCCTCATGCTCTTGGTAAGTAACCTCTGACTTCTACCTCAAATCTAACCTATTTCGTTCTTTGGAGGAAAAGGGTTCTTTCTCCTTTATGATCCCTGACCTTTCGATATTCCCCCAAATACACACTCATTGTGTCAGATATTCCCTCATCTGGTTTTCCCCCCTTCTTCCAGAACCTCATTCTCACCACACTCTGGAGCAACCCGGACATGGACACTCCCACAGTGGTGAGGAAGAGACAGATGGGGATGGGAGTTGGGGTGCTGGGGAAGGTCCGTCTCTCCCTATTCCTCACCTCCCGCACTTGAGGAGGAGGAGTCTGGAATGCACATCTCCCTTAATGTCTCAATGCCTCCATTCCCAGGCCAGGGCCCCATTCTGTCTGTGGGACTGTGGGTTCTCAGTGGAATTGTTGCCTTTCTTGTCGTGGAGAAATTTGTGAGACATGTGAAAGGAGGACATGGTCACAGTCATGGACATGGACACGCTCACAGTCATACACGTGGAAGTCATGGACATGGAAGACAAGGTGAGCCCAGGAACAACTTTCCTGAAAGCTGACTTGCCTGCCTCAGAATCTCCTCATCTTATGGCCCTCAGGAGGGAGAGGACATGTTGGAAGATCTGTTCTCCACTCTGACCAACTCTTTTCTTCCCTCAGAGCGTTCTACCAAGGAGAAGCAGAGCTCAGAGGAAGAAGAAAAGGAAACAAGAGGGGTTCAGAAGAGGCGAGGAGGGAGCACAGTACCCAAAGATGGGCCAGTGAGACCTCAGAACGCTGAAGAAGAAAAAAGAGGCTTAGGTAAGGGCCAGAGTTGGTGATAAATTTGGGCAAGGGACATCATCACAAATCACATGGAATATGTGCTGTGGGTAATGGCAGGTATCTGAGAAACACTAAAGGACTGGGTGTAAAGTGGTCTCTGAGGGGAGGTGTGAGAATAGCTGACCAAGACTGGAACAAGTGGTGATGGAAGCCTCTGATCATTTTCTCTTCTTGTCCTGTACAAGACCTGCGTGTGTCGGGGTACCTGAATCTGGCTGCTGACTTGGCACACAACTTCACTGATGGTCTGGCCATTGGGGCTTCCTTTCGAGGGGGCCGGGGACTAGGGATCCTGACCACAATGACTGTCCTGCTACATGAAGTGCCCCACGAGGTCGGAGACTTTGCCATCTTGGTCCAGTCTGGCTGCAGCAAAAAGCAGGTTGGTGATGTCTGCCAAACACAGCTGCCTCAAACCCTTTATCTCTCCTCACTCACCCTAAACCCAAACAGCCTCTTATTAGTTCCAAACAATTCATACTGTCATTGACAAGTCCTCTAGAAATGAGGGGGAAGAAGTTCTGGTTACTTTGTCCTTTAGCTCAGTATTTCTTAAACTGGTCTATAAACCATCTGAATGGTTTAGTGGAGTCTTACACACACACGCCTACTCAATCAGAAAGTCTGTGGAAAGGACCTCTGATCTCTTAAGATTTTTCAGAAATTGTCTATTCTAGACTGCTCCCTCTTCTCTTTTTATTTTGATGTTTAGTTTCCAAATCCATGTCCCCTATACCTATACCCCACCAGCCACTTCTAAACCACTGATAATCTTTAGCTATTGGTGAGTGCCTTTTTCTCTTTTCTGCCCATCAGGCGATGCGTCTGCAACTACTGACAGCAGTAGGGGCACTGGCAGGCATAGCCTGTGCCCTTCTCACTGAAGGAGGAGCAGTGGGCAGTGAAATTGCAGGTGGTGCAGGTCCTGGCTGGGTCCTGCCATTTACTGCAGGTGGCTTTATCTACGTAGCAACAGTGTCTGTGTTGCCCGAGCTGCTGAGGGAGGCATCACCATTGCAATCACTTCTGGAGGTGCTGGGGCTGCTGGGGGGAGTTATCATGATGGTGCTGATTGCCCACCTTGAGTGAGGGGTGGATAAACTACCCCTGCCCCAAACCTCTACCCCTAACTCCAGGTCAGGGGTGCGTAGAGGTTGGGGGCCCTGGCCAGGGACATCTGCCAAAGGAAGGAACTGTAGCCTGGGAGAATGGTTACTTTGGCATTAGGGCCTTCAAGGGCTGGCAGTCTTACAGAGGCTGGAGCGGTGAGAATGAGAGGCCAGAGGGACCATAGTGTTGGGCACTGTCTGACCATGTTGCATTTGGAAGGCTAAATGGGGCCATGAAGAAGGCTGGAAGGGACAGGGGGTGATGGCAGCCTACCTGGTGTCCCCTACCCCACCTGTTCTCGGAGAACCAAGTTGCTACACAGGAAGTTCTCCAAGGTCCAGTTTCCTTTCTCCCACCAGTTGGTGGAGGCTTCAGGGAAGACCAGAGTCCTGGACAGAGAGGGTAACAGGAGGAGTCGGGGATAAACATCAAACATCAATCGTGTGTCCTGATTTGGGAGTGATTGGGGGGATGGGGTGGGAGAGGGTTAGTTGGTATTCTCATGGCCTGATTTTTTTTGTTTCTATTCCTTTTATATCACTGTGTTTGAATCGAGGGGGAGGGGTGGTAACCGGAAATAAAGACCTCCGATCTTCCGCCCCACATGCAGTCTTTGTCTTTTTGGGGGGAATGGGGCCCCTTGTCTTCTCCACACCCGGGGCCCCTAAGCAGCAGTGTCGGGCCACGCCCCCTCGGTGGGAGGTCGGCCTGCGCTGGTGGCCGCAGATGGCCTAAGGCTGGCGGGCCTTTGATTGGCCCCGGCTTTGCCCTTGCCACGCCCCTCTGCGCTGGGATTGGCTTAGTGCTGGGATTCCCACCCACCCACAGCCCGCCATGGCGTCTCAGCTCCAGAACCGACTCCGCTCCGCACTGGCCTTGGTCACAGGTTGAGGGGGTTCTTTCCCCGGGCGGTTTGGGGTATTGGAGTGAGGTCAGGGGCGTGCCCTTGGAGTGCGCGGCCGCTGTGACCTCTGGCCCCTTACCCACATTTTACTTTCTGCCCTGTGACCTCTGATCCCTGCCCTCTCCTCCCCGTGCCCGGTCCGGCGTGTTCTGTCCTACCTCAGGTGCGGGGAGCGGCATCGGCCGAGCGGTCAGTGTACGCCTGGCCGGAGAGGGGGCCACCGTAGCTGCCTGCGACCTGGACCGGGCAGCGGCACAGGAGACGGTGCGGCTGCTGGGCGGGCCAGGGAGCAAGGAGGGGCCGCCCCGAGGGAACCATGCTGCCTTCCAGGCTGACGTGTCTGAGGCCAGGGCCGCCAGGTGCCTGCTGGAACAAGTGCAGGTGAACGCTAGGCCACTTTCCCCCTCTAAAGCTCTGATATTGCCTCCACTGCCCCGGCTTTTTGTGGGGGGTTTTTGATGCGTAACCTCCCCCTCCCATAGGCCTGCTTTTCTCGCCCACCATCTGTCGTTGTGTCCTGTGCGGGCATCACCCAGGATGAGTTTCTGCTGCACATGTCTGAGGATGACTGGGACAAAGTCATAGCTGTCAACCTCAAGGTGGCGATCTCTGAACCTGCGACGTTTGGCCCCCTTAGCCTGGGGAGGGAGTTGGAGGAGGGCTGTCACCCCAGCTGATCTTTTCTCCCTTGTTACCCTTTCCCGCCAGGGCACCTTCCTAGTCACTCAGGCTGCAGCACAAGCCCTGGTGTCCAATGGTTGTCGTGGTTCCATCATCAACATCAGTAGCATCGTAGGAAAGGTCAGGTTGAGTTGGACGAGGTCAGCCAGCCAAGTGGTATAGAGAGGAGAACCCCTCCTTGAGACTCCTGACTCATTCCACATCTCTGACTCACC
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Task1_train_10186
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This alteration occurs within gene SYNGAP1 (synaptic Ras GTPase activating protein 1) located on Chromosome 6. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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AGAATGTGGATCCGTGCTATGCCCGTGCTCACAGTTGTCTGTATGTCTCAAAAGCACATAGATCCCCAGTTATTTTTCTGTATTGTGGTTCTCATATACACGTACCTCCATAGCTCAGTATATGTTTCTGTACTATACACCTGTTCCTGAGGGAGTGATAGGGTTCTCGTGTCATGGGGTCCACATTTTTGTATGCAAACCTCCTAACACCTGGGTTTTACAGGTAAAGGGAAGCTGAGGACTGATTCTAGGGCAGTTTGCAGGCAATTTGCAATTCTGGAAGCAGACAGTGAAAATATAATTGTGGTCCTCCCTTGTTCTGTTCTGGAACCTAGAGGGTTAACAGGCAGCTCTTCCGGTCCACCCCCCTCCTTCCAGCCTGTAGCTTCTTGTTGCCGTGGAGATGGTGGCCCCGCCCCGATGCAGCACCTGCCCCCCCATTGGCTGCAGTGGTGACTGTGGGGCTGAGGGGGGAGCCCAGGCCTGGGCAGCCATTCTGGAGCTGGAGCCGGAGCTTGGCATCCCCCCACTTACATTCTCTTCCAGCCCCTCGGCCCCTCTAAATTCCCTTGCAGCCGAGCCTCAGCTTCCTTTTTCAGCGCTTGCCATCCCTCTAGGCTCTTGGCAGACTGAGCTGCATCCGCATTCACCTCCCCTCCTCCTCCTTTCCCTATCCTTACTTGGGAGTCCCGAGAACCCCCACTGTCCATCCTTCCTGCTCCCTGCCCATTCCCCTGCATTCTTTGCTTTTCCCCTCCCCCCACCAACCTTCTGAGCCCCTGCCACTGCAGTGCACGTGGAACCGGCTCCTTCTCCCTTCCCCCCACCTGCCCCTTCCTTGGATTTTCTGTCCCCAGCTTCTCCCCCTGCTACTCTTCACAGGTCTCTTCCAAGACCTCCCCCTCCAGTCCAGGGAGGGGGTCATGGGAGGCAGCCCTGGCCCTCCAGACAGACAGGGGTTCCAGGAGGTGGGGGGCAGGTGGAAGATGTGCCCACCAGGGGGAAGAGGAAAGCCTGCCTATGGGCAATGACCTTTAACCCATCTTTCCCCCCAGCTAGCCCCTTCTGGGGTGGGTGGGCACCAGGGACCTAGCCTCCCTGGATCTTTGGTGTCCTTCATTACTGGGGTTTTACTGACCCTCTCAGCCATGCTCCCCTGCTGACTGCCAGCCCCAGTCATGGGCCTAAGGCCTCCCACCCCATCCCCCTCAGGGGGCTCCTGCTCAGGTTCCTTGCCCCCTCCTTCCCGCTGCCAGCCTCTCCGCCGTCGCTGCTCTTCCTGCTGCTTTCCGGGGGGTAGGTGAGGCCGGAGCTGAGGGGCAGAGGGAGGTGGGGGCATGCACTGGGGTCAGGGGTGGGAACCTGGGTTAACAGCTTCCCTTCTGGCCCCCTCCCCAACTTCCCTTCTGGCCATTTCCTCCCCTCCAGAATACCACTTGGGTCGCTCGAGGAGGAAGAGTGTCCCAGGGGGGAAGCAGTACAGCATGGAGGGTGCCCCTGCTGCGCCCTTCCGGCCCTCGGTGAGTGGTGCCTACCAGATGTGGCTCAGTTGGGCCCCCTCCCCTCCAGCCCCAACTGGGGCCCTAGGAGTCTGAGAAAGAGGGCAGGAGGGGGAGAGAGGGAGTGAGAGTGAGAAAAAGAGTGTGTGTCTGTGTGTGTCTCCCCACCTCTTTGGTTTCCCCCTTCTTGGCTCTGCCCCCCTGCTTCTGAGACCAGCCCTCCCACCTTCTCCAAGCTGTGTGTGTGTGTATATGTGTGTGTGTGTGTGCTTGCACTGTACCCGTGGGAGCAAGGAAGACAAACTGGTATTAGGGTTCCTATCCCCCTTTCCTCGCCTCTGGAGACTTCCCTTTTCCCCATCCCACTTTCATCCAGGGGCTCTCTACCAGCTGAGGGATGAGTAGGTAGAACTGACCCTGCCCCAACCCACCCCATCCCCATTTCCCCCCCAGCAAGGCTTCCTGAGCCGACGGCTAAAAAGCTCCATCAAACGAACGAAGTCACAACCCAAACTTGACCGGACCAGCAGCTTTCGCCAGATCCTGCCTCGCTTCCGAAGTGCTGACCATGACCGGTACAGGGGCTGGAGCATGTGGGATGAGATTGATGTAATGTAGGGTCTCCTGTGTGAGATGCAGAGGGAGGGGGTTATCTGTGTGCAAAGGTTGAAGGATTCAACTCAAGTTGGTTGGGGGATGTCATGGCACAGGGGACAGAACAGAAAAGAACTAGAATAGGGATCTGTGAGCAGCAGGAGAGGGGTAGGGTGGCAGAGAGAAGACAGACAGACAGGCTGGAAAGGGAATGAAGGTGAAGCCAAGGAGGGACTCCTCAGGGACTCCTCAGGCCAAGAAGGATGGGCTCTAGCCCAGGATCAAAGGAGCTGTACAGGAGGAGAGTGACCCTGGAGGAATGTTTAAGGAATGCAGGGAAGGGGTTGGTAGGTGAGTGAGCAATAGGCTGTAGGTGGAAGGGTGTCAGGGAAGGTCAGGAAATACAGGGGCAGCAGGTTGGAGTGGGGCTGGGGGTGGCTGAATGAATGGATGATGGCTAGGGCTCAAGGACCTCATCAGTGAGGGAAGAGACAGTATAGAGCATGGCAGAGAAGGGGAGGCTGGGACAGGTGTGCAGGGTGACAGAATGGGAAGCAACCCATGGACTGAGGCATGAAGAAGCAGCCAGCGGAGAAGTCCAGAAGGCACTGTCCCTGAGACCAGGCTGAAGGAGACCTCCACTGTTTGCCTTTGTTGCCTGCCATTTGGGGTTCCTCTCTGGGTTTCCCCCTCACCCAGTCACTCCCCAGGGAGAACCATGCCCTCCCTTTCCCCCATGTCTGGCCACCCCCAGGATTGGGCAGGTAGGGAGGTTGGGATAAAGTGAGTCACACCTTTCCCTGCCCCCCTCCCATGTTGCCAGAGCTGGATTTGGGGCCGGCAGGGGGTGAGGGCATGGTATTCCTGGCCGCGGGGGCGGGGGGGGGGGTCCGGGGGCCGGGGGAGCGTCGCGCTGACGGCAGCCAGAGCCTGCGATGACGGGGCTGCTATAAATAACTTCTTGGAGGCTCCCACACCCAAGCTCCCCTCCCGCTTTCCCACTGCTCTCTACTCTTCATCCCCTGCCCATCTCCATACCGCTTTTGTATTGCTATCCTACCCCTCATTATTCCATGCCCCTAGCCCCCTTTATCTTCTGCCCTCCTGCAGTGATTTTTTTGCATTCCATCCCCTCTTAGCCCTCACCTCGGTTCTCCCGGCCATCTCTCCAGTTGGCCTTCCTCCTCTTCTCCTGTCCTCTGTCTTGCTGCACATACCTTTGTCTCCCCCTTTCTTCTTCTTGCCCTACCTCCTCTTCTTCCCTAGTCCGTGTATTCTGTCTTTTATCCTCTTTGAGCTCTTTTCTGCCCACAGCTTTCTCCTATTTCTTATGCTTTTCCCTCACTCTTTCCCCTGCTTCTGCTAAAACTTGTCCTCTTATGCTGTGTTCATTCATTCTTTGAATCATTAAATGTTTATCAGGCACTAGCCGTGTGCCAGGCCCAGGCTAGACATATCTCTTCTCTGTGCCTTCACTTCTTTACTTCCACTTTTTCCTTTATACTGAGGCTCTGGTTTCTGGGGTTACCTGGAGGTACTACCTAGAAGTGCCCCAGGCCCACTTTGTTCTCTCCTTTTTTTTTTTTCTTTTCTGCCATGGTCCATTTCTGGGTTGAGATATTTCTAGATGTCCCCAGTCCTCGCAATCCCTTAGGTGTGAGATGGTGGGAGTTTCTTTTTTTTCCTTTTTTTTTTTTTAAATAGAAATAGGGTCTCACTGTGTTGCCCAGACTGGTCTTGAACTCCTGGGCTCAAGTGACCCTCCCACCTCGGCCTTTGAAATGTTGGGATTACAGGTGTGAGCCACCAGGCCCAGGTGGAGCAGGGGAGTTCCTTAAAGGATTCTGATTTTTCTCACATCCCTCACGTCCTTCCTGATAGGCAGGGTTTCTTTCTGTGTCTGTTTGGGAAGGGTGTTCAGGGGGCCTTCTCTCCAAGTCTCCATCCTGGAACAGACTGATGATGCAGGGTACCTATGTGTCTAAGAAGAGTAGGGGGGCCGG
|
AGAATGTGGATCCGTGCTATGCCCGTGCTCACAGTTGTCTGTATGTCTCAAAAGCACATAGATCCCCAGTTATTTTTCTGTATTGTGGTTCTCATATACACGTACCTCCATAGCTCAGTATATGTTTCTGTACTATACACCTGTTCCTGAGGGAGTGATAGGGTTCTCGTGTCATGGGGTCCACATTTTTGTATGCAAACCTCCTAACACCTGGGTTTTACAGGTAAAGGGAAGCTGAGGACTGATTCTAGGGCAGTTTGCAGGCAATTTGCAATTCTGGAAGCAGACAGTGAAAATATAATTGTGGTCCTCCCTTGTTCTGTTCTGGAACCTAGAGGGTTAACAGGCAGCTCTTCCGGTCCACCCCCCTCCTTCCAGCCTGTAGCTTCTTGTTGCCGTGGAGATGGTGGCCCCGCCCCGATGCAGCACCTGCCCCCCCATTGGCTGCAGTGGTGACTGTGGGGCTGAGGGGGGAGCCCAGGCCTGGGCAGCCATTCTGGAGCTGGAGCCGGAGCTTGGCATCCCCCCACTTACATTCTCTTCCAGCCCCTCGGCCCCTCTAAATTCCCTTGCAGCCGAGCCTCAGCTTCCTTTTTCAGCGCTTGCCATCCCTCTAGGCTCTTGGCAGACTGAGCTGCATCCGCATTCACCTCCCCTCCTCCTCCTTTCCCTATCCTTACTTGGGAGTCCCGAGAACCCCCACTGTCCATCCTTCCTGCTCCCTGCCCATTCCCCTGCATTCTTTGCTTTTCCCCTCCCCCCACCAACCTTCTGAGCCCCTGCCACTGCAGTGCACGTGGAACCGGCTCCTTCTCCCTTCCCCCCACCTGCCCCTTCCTTGGATTTTCTGTCCCCAGCTTCTCCCCCTGCTACTCTTCACAGGTCTCTTCCAAGACCTCCCCCTCCAGTCCAGGGAGGGGGTCATGGGAGGCAGCCCTGGCCCTCCAGACAGACAGGGGTTCCAGGAGGTGGGGGGCAGGTGGAAGATGTGCCCACCAGGGGGAAGAGGAAAGCCTGCCTATGGGCAATGACCTTTAACCCATCTTTCCCCCCAGCTAGCCCCTTCTGGGGTGGGTGGGCACCAGGGACCTAGCCTCCCTGGATCTTTGGTGTCCTTCATTACTGGGGTTTTACTGACCCTCTCAGCCATGCTCCCCTGCTGACTGCCAGCCCCAGTCATGGGCCTAAGGCCTCCCACCCCATCCCCCTCAGGGGGCTCCTGCTCAGGTTCCTTGCCCCCTCCTTCCCGCTGCCAGCCTCTCCGCCGTCGCTGCTCTTCCTGCTGCTTTCCGGGGGGTAGGTGAGGCCGGAGCTGAGGGGCAGAGGGAGGTGGGGGCATGCACTGGGGTCAGGGGTGGGAACCTGGGTTAACAGCTTCCCTTCTGGCCCCCTCCCCAACTTCCCTTCTGGCCATTTCCTCCCCTCCAGAATACCACTTGGGTCGCTCGAGGAGGAAGAGTGTCCCAGGGGGGAAGCAGTACAGCATGGAGGGTGCCCCTGCTGCGCCCTTCCGGCCCTCGGTGAGTGGTGCCTACCAGATGTGGCTCAGTTGGGCCCCCTCCCCTCCAGCCCCAACTGGGGCCCTAGGAGTCTGAGAAAGAGGGCAGGAGGGGGAGAGAGGGAGTGAGAGTGAGAAAAAGAGTGTGTGTCTGTGTGTGTCTCCCCACCTCTTTGGTTTCCCCCTTCTTGGCTCTGCCCCCCTGCTTCTGAGACCAGCCCTCCCACCTTCTCCAAGCTGTGTGTGTGTGTATATGTGTGTGTGTGTGTGCTTGCACTGTACCCGTGGGAGCAAGGAAGACAAACTGGTATTAGGGTTCCTATCCCCCTTTCCTCGCCTCTGGAGACTTCCCTTTTCCCCATCCCACTTTCATCCAGGGGCTCTCTACCAGCTGAGGGATGAGTAGGTAGAACTGACCCTGCCCCAACCCACCCCATCCCCATTTCCCCCCCAGCAAGGCTTCCTGAGCCGACGGCTAAAAAGCTCCATCAAACGAACGAAGTCACAACCCAAACTTGACCGGACCAGCAGCTTTCGCCAGATCCTGCCTTGCTTCCGAAGTGCTGACCATGACCGGTACAGGGGCTGGAGCATGTGGGATGAGATTGATGTAATGTAGGGTCTCCTGTGTGAGATGCAGAGGGAGGGGGTTATCTGTGTGCAAAGGTTGAAGGATTCAACTCAAGTTGGTTGGGGGATGTCATGGCACAGGGGACAGAACAGAAAAGAACTAGAATAGGGATCTGTGAGCAGCAGGAGAGGGGTAGGGTGGCAGAGAGAAGACAGACAGACAGGCTGGAAAGGGAATGAAGGTGAAGCCAAGGAGGGACTCCTCAGGGACTCCTCAGGCCAAGAAGGATGGGCTCTAGCCCAGGATCAAAGGAGCTGTACAGGAGGAGAGTGACCCTGGAGGAATGTTTAAGGAATGCAGGGAAGGGGTTGGTAGGTGAGTGAGCAATAGGCTGTAGGTGGAAGGGTGTCAGGGAAGGTCAGGAAATACAGGGGCAGCAGGTTGGAGTGGGGCTGGGGGTGGCTGAATGAATGGATGATGGCTAGGGCTCAAGGACCTCATCAGTGAGGGAAGAGACAGTATAGAGCATGGCAGAGAAGGGGAGGCTGGGACAGGTGTGCAGGGTGACAGAATGGGAAGCAACCCATGGACTGAGGCATGAAGAAGCAGCCAGCGGAGAAGTCCAGAAGGCACTGTCCCTGAGACCAGGCTGAAGGAGACCTCCACTGTTTGCCTTTGTTGCCTGCCATTTGGGGTTCCTCTCTGGGTTTCCCCCTCACCCAGTCACTCCCCAGGGAGAACCATGCCCTCCCTTTCCCCCATGTCTGGCCACCCCCAGGATTGGGCAGGTAGGGAGGTTGGGATAAAGTGAGTCACACCTTTCCCTGCCCCCCTCCCATGTTGCCAGAGCTGGATTTGGGGCCGGCAGGGGGTGAGGGCATGGTATTCCTGGCCGCGGGGGCGGGGGGGGGGGTCCGGGGGCCGGGGGAGCGTCGCGCTGACGGCAGCCAGAGCCTGCGATGACGGGGCTGCTATAAATAACTTCTTGGAGGCTCCCACACCCAAGCTCCCCTCCCGCTTTCCCACTGCTCTCTACTCTTCATCCCCTGCCCATCTCCATACCGCTTTTGTATTGCTATCCTACCCCTCATTATTCCATGCCCCTAGCCCCCTTTATCTTCTGCCCTCCTGCAGTGATTTTTTTGCATTCCATCCCCTCTTAGCCCTCACCTCGGTTCTCCCGGCCATCTCTCCAGTTGGCCTTCCTCCTCTTCTCCTGTCCTCTGTCTTGCTGCACATACCTTTGTCTCCCCCTTTCTTCTTCTTGCCCTACCTCCTCTTCTTCCCTAGTCCGTGTATTCTGTCTTTTATCCTCTTTGAGCTCTTTTCTGCCCACAGCTTTCTCCTATTTCTTATGCTTTTCCCTCACTCTTTCCCCTGCTTCTGCTAAAACTTGTCCTCTTATGCTGTGTTCATTCATTCTTTGAATCATTAAATGTTTATCAGGCACTAGCCGTGTGCCAGGCCCAGGCTAGACATATCTCTTCTCTGTGCCTTCACTTCTTTACTTCCACTTTTTCCTTTATACTGAGGCTCTGGTTTCTGGGGTTACCTGGAGGTACTACCTAGAAGTGCCCCAGGCCCACTTTGTTCTCTCCTTTTTTTTTTTTCTTTTCTGCCATGGTCCATTTCTGGGTTGAGATATTTCTAGATGTCCCCAGTCCTCGCAATCCCTTAGGTGTGAGATGGTGGGAGTTTCTTTTTTTTCCTTTTTTTTTTTTTAAATAGAAATAGGGTCTCACTGTGTTGCCCAGACTGGTCTTGAACTCCTGGGCTCAAGTGACCCTCCCACCTCGGCCTTTGAAATGTTGGGATTACAGGTGTGAGCCACCAGGCCCAGGTGGAGCAGGGGAGTTCCTTAAAGGATTCTGATTTTTCTCACATCCCTCACGTCCTTCCTGATAGGCAGGGTTTCTTTCTGTGTCTGTTTGGGAAGGGTGTTCAGGGGGCCTTCTCTCCAAGTCTCCATCCTGGAACAGACTGATGATGCAGGGTACCTATGTGTCTAAGAAGAGTAGGGGGGCCGG
|
Task1_train_10187
|
Gene SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Intellectual disability, autosomal dominant 5
|
GGAAGCTGGGGGCCTAGGGAGGAAAGTGAGTTAAAGGAGGAGAGGCTTGGGGAAGGAGAGGATTGAGGTACAGTGTATCTGGACAAGCAGGGGGAGACCCCCATTATTCTGAGTCCCCCATTTCTTTTCGCTTTCTGTACTGCTACCCTGCCTTACGATCTCTTTCCCTGCCATAGAAGTCATAGACTTACAGAGTTGATGGGGCTCTGGAAATTCTTTAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATATCACCTGAGCCTTACCATTAGCTTGTGCTCAATTGTATCCCCCCAGGCCCTTACTGATTCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCAATTCCTGTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCAAATTCTACATTAATATTTTTGGCTTGTTATTCCAGCTTTTGAAATCTTTCCAATACTGTTTGTGTTGTCTAGTGTATGTCTACGCTTCTACAGTAGCTTCCTGGGGCTGCTATAACAAACTGCTACAAACTGGGTCACGTAAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGCCTCTTTTTTTTGAGATGGAATATCGCTCTTGTTTCCCAGGCTTGGAGTGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACTATGCCCAGCTAATTTGTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCTCGAACTCCTGACCTCAGGCAATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAATGAGATACCATGGCTGGCCTCTTCTTAGTTTGATTACATTTGCAGGGATCCTGTTTCCAAATAAGATCACATTCACAGGTTCAGGGTAGACATGAGTTTTGGTGGGATACTATTCAACCCAGTACACCGTCTCACCTTATGATTGCTGTCTGTATCCCACTTTCTTACTGTCTCTCCTCTTTTGGTGTCTCTCTGTCCCTTCCCCCTTTAACATCATGCCCACCCCACCATGCCAGGACAACAGCCGCCGGGTAGACAATGTGCTAAAGCTGTGGATCATAGAGGCCCGGGAGCTGCCCCCCAAGAAGCGGTACTACTGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCTGCCTCTGGGGACACCGTCTTCTGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTCCGTGCCCTGCGGCTGCATCTGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCAGGCTATGTCGGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAGCAGTGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGAGGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTGCGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTTGCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAATGTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAGGCCAAGGTGAGTGTTGTGCCCTCAGGGAAAGGTGACTTGGGAATGGGCACTTGCTTGGGGGTTAGTGAGGACAGGGCAAATTCACGAGATTGGGTTGTGCAGAGGCTGACACTTGGATTTTCCTGGGCCTCAGGACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAGCACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTGATTGGTCAGAAATACCTCAAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCCCAAGTCCACCCTTCCACAGCTTGATACTTCCTAACCCAGAGTCCTAGGACTCCAGCCTCCAACACCTGATTCTGAAATTTCCCCAACCCTGGCCACCCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAAT
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GGAAGCTGGGGGCCTAGGGAGGAAAGTGAGTTAAAGGAGGAGAGGCTTGGGGAAGGAGAGGATTGAGGTACAGTGTATCTGGACAAGCAGGGGGAGACCCCCATTATTCTGAGTCCCCCATTTCTTTTCGCTTTCTGTACTGCTACCCTGCCTTACGATCTCTTTCCCTGCCATAGAAGTCATAGACTTACAGAGTTGATGGGGCTCTGGAAATTCTTTAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATATCACCTGAGCCTTACCATTAGCTTGTGCTCAATTGTATCCCCCCAGGCCCTTACTGATTCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCAATTCCTGTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCAAATTCTACATTAATATTTTTGGCTTGTTATTCCAGCTTTTGAAATCTTTCCAATACTGTTTGTGTTGTCTAGTGTATGTCTACGCTTCTACAGTAGCTTCCTGGGGCTGCTATAACAAACTGCTACAAACTGGGTCACGTAAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGCCTCTTTTTTTTGAGATGGAATATCGCTCTTGTTTCCCAGGCTTGGAGTGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACTATGCCCAGCTAATTTGTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCTCGAACTCCTGACCTCAGGCAATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAATGAGATACCATGGCTGGCCTCTTCTTAGTTTGATTACATTTGCAGGGATCCTGTTTCCAAATAAGATCACATTCACAGGTTCAGGGTAGACATGAGTTTTGGTGGGATACTATTCAACCCAGTACACCGTCTCACCTTATGATTGCTGTCTGTATCCCACTTTCTTACTGTCTCTCCTCTTTTGGTGTCTCTCTGTCCCTTCCCCCTTTAACATCATGCCCACCCCACCATGCCAGGACAACAGCCGCCGGGTAGACAATGTGCTAAAGCTGTGGATCATAGAGGACCGGGAGCTGCCCCCCAAGAAGCGGTACTACTGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCTGCCTCTGGGGACACCGTCTTCTGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTCCGTGCCCTGCGGCTGCATCTGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCAGGCTATGTCGGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAGCAGTGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGAGGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTGCGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTTGCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAATGTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAGGCCAAGGTGAGTGTTGTGCCCTCAGGGAAAGGTGACTTGGGAATGGGCACTTGCTTGGGGGTTAGTGAGGACAGGGCAAATTCACGAGATTGGGTTGTGCAGAGGCTGACACTTGGATTTTCCTGGGCCTCAGGACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAGCACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTGATTGGTCAGAAATACCTCAAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCCCAAGTCCACCCTTCCACAGCTTGATACTTCCTAACCCAGAGTCCTAGGACTCCAGCCTCCAACACCTGATTCTGAAATTTCCCCAACCCTGGCCACCCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAAT
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Task1_train_10188
|
This is a variant in SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1), located on Chromosome 6. Is this mutation a likely cause of disease or not?
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Pathogenic; not provided
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AAAGGAGGAGAGGCTTGGGGAAGGAGAGGATTGAGGTACAGTGTATCTGGACAAGCAGGGGGAGACCCCCATTATTCTGAGTCCCCCATTTCTTTTCGCTTTCTGTACTGCTACCCTGCCTTACGATCTCTTTCCCTGCCATAGAAGTCATAGACTTACAGAGTTGATGGGGCTCTGGAAATTCTTTAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATATCACCTGAGCCTTACCATTAGCTTGTGCTCAATTGTATCCCCCCAGGCCCTTACTGATTCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCAATTCCTGTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCAAATTCTACATTAATATTTTTGGCTTGTTATTCCAGCTTTTGAAATCTTTCCAATACTGTTTGTGTTGTCTAGTGTATGTCTACGCTTCTACAGTAGCTTCCTGGGGCTGCTATAACAAACTGCTACAAACTGGGTCACGTAAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGCCTCTTTTTTTTGAGATGGAATATCGCTCTTGTTTCCCAGGCTTGGAGTGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACTATGCCCAGCTAATTTGTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCTCGAACTCCTGACCTCAGGCAATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAATGAGATACCATGGCTGGCCTCTTCTTAGTTTGATTACATTTGCAGGGATCCTGTTTCCAAATAAGATCACATTCACAGGTTCAGGGTAGACATGAGTTTTGGTGGGATACTATTCAACCCAGTACACCGTCTCACCTTATGATTGCTGTCTGTATCCCACTTTCTTACTGTCTCTCCTCTTTTGGTGTCTCTCTGTCCCTTCCCCCTTTAACATCATGCCCACCCCACCATGCCAGGACAACAGCCGCCGGGTAGACAATGTGCTAAAGCTGTGGATCATAGAGGCCCGGGAGCTGCCCCCCAAGAAGCGGTACTACTGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCTGCCTCTGGGGACACCGTCTTCTGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTCCGTGCCCTGCGGCTGCATCTGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCAGGCTATGTCGGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAGCAGTGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGAGGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTGCGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTTGCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAATGTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAGGCCAAGGTGAGTGTTGTGCCCTCAGGGAAAGGTGACTTGGGAATGGGCACTTGCTTGGGGGTTAGTGAGGACAGGGCAAATTCACGAGATTGGGTTGTGCAGAGGCTGACACTTGGATTTTCCTGGGCCTCAGGACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAGCACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTGATTGGTCAGAAATACCTCAAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCCCAAGTCCACCCTTCCACAGCTTGATACTTCCTAACCCAGAGTCCTAGGACTCCAGCCTCCAACACCTGATTCTGAAATTTCCCCAACCCTGGCCACCCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGA
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AAAGGAGGAGAGGCTTGGGGAAGGAGAGGATTGAGGTACAGTGTATCTGGACAAGCAGGGGGAGACCCCCATTATTCTGAGTCCCCCATTTCTTTTCGCTTTCTGTACTGCTACCCTGCCTTACGATCTCTTTCCCTGCCATAGAAGTCATAGACTTACAGAGTTGATGGGGCTCTGGAAATTCTTTAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATATCACCTGAGCCTTACCATTAGCTTGTGCTCAATTGTATCCCCCCAGGCCCTTACTGATTCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCAATTCCTGTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCAAATTCTACATTAATATTTTTGGCTTGTTATTCCAGCTTTTGAAATCTTTCCAATACTGTTTGTGTTGTCTAGTGTATGTCTACGCTTCTACAGTAGCTTCCTGGGGCTGCTATAACAAACTGCTACAAACTGGGTCACGTAAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGCCTCTTTTTTTTGAGATGGAATATCGCTCTTGTTTCCCAGGCTTGGAGTGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACTATGCCCAGCTAATTTGTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCTCGAACTCCTGACCTCAGGCAATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAATGAGATACCATGGCTGGCCTCTTCTTAGTTTGATTACATTTGCAGGGATCCTGTTTCCAAATAAGATCACATTCACAGGTTCAGGGTAGACATGAGTTTTGGTGGGATACTATTCAACCCAGTACACCGTCTCACCTTATGATTGCTGTCTGTATCCCACTTTCTTACTGTCTCTCCTCTTTTGGTGTCTCTCTGTCCCTTCCCCCTTTAACATCATGCCCACCCCACCATGCCAGGACAACAGCCGCCGGGTAGACAATGTGCTAAAGCTGTGGATCATAGAGGCCCGGGAGCTGCCCCCCAAGAAGCGGTACTACCGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCTGCCTCTGGGGACACCGTCTTCTGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTCCGTGCCCTGCGGCTGCATCTGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCAGGCTATGTCGGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAGCAGTGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGAGGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTGCGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTTGCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAATGTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAGGCCAAGGTGAGTGTTGTGCCCTCAGGGAAAGGTGACTTGGGAATGGGCACTTGCTTGGGGGTTAGTGAGGACAGGGCAAATTCACGAGATTGGGTTGTGCAGAGGCTGACACTTGGATTTTCCTGGGCCTCAGGACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAGCACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTGATTGGTCAGAAATACCTCAAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCCCAAGTCCACCCTTCCACAGCTTGATACTTCCTAACCCAGAGTCCTAGGACTCCAGCCTCCAACACCTGATTCTGAAATTTCCCCAACCCTGGCCACCCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGA
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Task1_train_10189
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This genomic variant is located on Chromosome 6, within the SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; not provided
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GAGTCCCCCATTTCTTTTCGCTTTCTGTACTGCTACCCTGCCTTACGATCTCTTTCCCTGCCATAGAAGTCATAGACTTACAGAGTTGATGGGGCTCTGGAAATTCTTTAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATATCACCTGAGCCTTACCATTAGCTTGTGCTCAATTGTATCCCCCCAGGCCCTTACTGATTCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCAATTCCTGTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCAAATTCTACATTAATATTTTTGGCTTGTTATTCCAGCTTTTGAAATCTTTCCAATACTGTTTGTGTTGTCTAGTGTATGTCTACGCTTCTACAGTAGCTTCCTGGGGCTGCTATAACAAACTGCTACAAACTGGGTCACGTAAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGCCTCTTTTTTTTGAGATGGAATATCGCTCTTGTTTCCCAGGCTTGGAGTGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACTATGCCCAGCTAATTTGTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCTCGAACTCCTGACCTCAGGCAATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAATGAGATACCATGGCTGGCCTCTTCTTAGTTTGATTACATTTGCAGGGATCCTGTTTCCAAATAAGATCACATTCACAGGTTCAGGGTAGACATGAGTTTTGGTGGGATACTATTCAACCCAGTACACCGTCTCACCTTATGATTGCTGTCTGTATCCCACTTTCTTACTGTCTCTCCTCTTTTGGTGTCTCTCTGTCCCTTCCCCCTTTAACATCATGCCCACCCCACCATGCCAGGACAACAGCCGCCGGGTAGACAATGTGCTAAAGCTGTGGATCATAGAGGCCCGGGAGCTGCCCCCCAAGAAGCGGTACTACTGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCTGCCTCTGGGGACACCGTCTTCTGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTCCGTGCCCTGCGGCTGCATCTGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCAGGCTATGTCGGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAGCAGTGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGAGGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTGCGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTTGCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAATGTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAGGCCAAGGTGAGTGTTGTGCCCTCAGGGAAAGGTGACTTGGGAATGGGCACTTGCTTGGGGGTTAGTGAGGACAGGGCAAATTCACGAGATTGGGTTGTGCAGAGGCTGACACTTGGATTTTCCTGGGCCTCAGGACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAGCACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTGATTGGTCAGAAATACCTCAAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCCCAAGTCCACCCTTCCACAGCTTGATACTTCCTAACCCAGAGTCCTAGGACTCCAGCCTCCAACACCTGATTCTGAAATTTCCCCAACCCTGGCCACCCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAA
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GAGTCCCCCATTTCTTTTCGCTTTCTGTACTGCTACCCTGCCTTACGATCTCTTTCCCTGCCATAGAAGTCATAGACTTACAGAGTTGATGGGGCTCTGGAAATTCTTTAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATATCACCTGAGCCTTACCATTAGCTTGTGCTCAATTGTATCCCCCCAGGCCCTTACTGATTCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCAATTCCTGTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCAAATTCTACATTAATATTTTTGGCTTGTTATTCCAGCTTTTGAAATCTTTCCAATACTGTTTGTGTTGTCTAGTGTATGTCTACGCTTCTACAGTAGCTTCCTGGGGCTGCTATAACAAACTGCTACAAACTGGGTCACGTAAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGCCTCTTTTTTTTGAGATGGAATATCGCTCTTGTTTCCCAGGCTTGGAGTGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACTATGCCCAGCTAATTTGTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCTCGAACTCCTGACCTCAGGCAATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAATGAGATACCATGGCTGGCCTCTTCTTAGTTTGATTACATTTGCAGGGATCCTGTTTCCAAATAAGATCACATTCACAGGTTCAGGGTAGACATGAGTTTTGGTGGGATACTATTCAACCCAGTACACCGTCTCACCTTATGATTGCTGTCTGTATCCCACTTTCTTACTGTCTCTCCTCTTTTGGTGTCTCTCTGTCCCTTCCCCCTTTAACATCATGCCCACCCCACCATGCCAGGACAACAGCCGCCGGGTAGACAATGTGCTAAAGCTGTGGATCATAGAGGCCCGGGAGCTGCCCCCCAAGAAGCGGTACTACTGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCTGCCTCTGGGGACACCGTCTTCCGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTCCGTGCCCTGCGGCTGCATCTGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCAGGCTATGTCGGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAGCAGTGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGAGGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTGCGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTTGCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAATGTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAGGCCAAGGTGAGTGTTGTGCCCTCAGGGAAAGGTGACTTGGGAATGGGCACTTGCTTGGGGGTTAGTGAGGACAGGGCAAATTCACGAGATTGGGTTGTGCAGAGGCTGACACTTGGATTTTCCTGGGCCTCAGGACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAGCACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTGATTGGTCAGAAATACCTCAAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCCCAAGTCCACCCTTCCACAGCTTGATACTTCCTAACCCAGAGTCCTAGGACTCCAGCCTCCAACACCTGATTCTGAAATTTCCCCAACCCTGGCCACCCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAA
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Task1_train_10190
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This sequence change occurs on Chromosome 6, altering SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Intellectual disability, autosomal dominant 5
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TGCCATAGAAGTCATAGACTTACAGAGTTGATGGGGCTCTGGAAATTCTTTAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATATCACCTGAGCCTTACCATTAGCTTGTGCTCAATTGTATCCCCCCAGGCCCTTACTGATTCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCAATTCCTGTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCAAATTCTACATTAATATTTTTGGCTTGTTATTCCAGCTTTTGAAATCTTTCCAATACTGTTTGTGTTGTCTAGTGTATGTCTACGCTTCTACAGTAGCTTCCTGGGGCTGCTATAACAAACTGCTACAAACTGGGTCACGTAAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGCCTCTTTTTTTTGAGATGGAATATCGCTCTTGTTTCCCAGGCTTGGAGTGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACTATGCCCAGCTAATTTGTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCTCGAACTCCTGACCTCAGGCAATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAATGAGATACCATGGCTGGCCTCTTCTTAGTTTGATTACATTTGCAGGGATCCTGTTTCCAAATAAGATCACATTCACAGGTTCAGGGTAGACATGAGTTTTGGTGGGATACTATTCAACCCAGTACACCGTCTCACCTTATGATTGCTGTCTGTATCCCACTTTCTTACTGTCTCTCCTCTTTTGGTGTCTCTCTGTCCCTTCCCCCTTTAACATCATGCCCACCCCACCATGCCAGGACAACAGCCGCCGGGTAGACAATGTGCTAAAGCTGTGGATCATAGAGGCCCGGGAGCTGCCCCCCAAGAAGCGGTACTACTGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCTGCCTCTGGGGACACCGTCTTCTGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTCCGTGCCCTGCGGCTGCATCTGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCAGGCTATGTCGGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAGCAGTGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGAGGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTGCGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTTGCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAATGTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAGGCCAAGGTGAGTGTTGTGCCCTCAGGGAAAGGTGACTTGGGAATGGGCACTTGCTTGGGGGTTAGTGAGGACAGGGCAAATTCACGAGATTGGGTTGTGCAGAGGCTGACACTTGGATTTTCCTGGGCCTCAGGACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAGCACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTGATTGGTCAGAAATACCTCAAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCCCAAGTCCACCCTTCCACAGCTTGATACTTCCTAACCCAGAGTCCTAGGACTCCAGCCTCCAACACCTGATTCTGAAATTTCCCCAACCCTGGCCACCCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAAGTAGAGTGTATGTAGTAGAGTAGAGGGATGTATGTTGGGGGATGACTGGAATAGAGCC
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TGCCATAGAAGTCATAGACTTACAGAGTTGATGGGGCTCTGGAAATTCTTTAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATATCACCTGAGCCTTACCATTAGCTTGTGCTCAATTGTATCCCCCCAGGCCCTTACTGATTCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCAATTCCTGTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCAAATTCTACATTAATATTTTTGGCTTGTTATTCCAGCTTTTGAAATCTTTCCAATACTGTTTGTGTTGTCTAGTGTATGTCTACGCTTCTACAGTAGCTTCCTGGGGCTGCTATAACAAACTGCTACAAACTGGGTCACGTAAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGCCTCTTTTTTTTGAGATGGAATATCGCTCTTGTTTCCCAGGCTTGGAGTGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACTATGCCCAGCTAATTTGTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCTCGAACTCCTGACCTCAGGCAATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAATGAGATACCATGGCTGGCCTCTTCTTAGTTTGATTACATTTGCAGGGATCCTGTTTCCAAATAAGATCACATTCACAGGTTCAGGGTAGACATGAGTTTTGGTGGGATACTATTCAACCCAGTACACCGTCTCACCTTATGATTGCTGTCTGTATCCCACTTTCTTACTGTCTCTCCTCTTTTGGTGTCTCTCTGTCCCTTCCCCCTTTAACATCATGCCCACCCCACCATGCCAGGACAACAGCCGCCGGGTAGACAATGTGCTAAAGCTGTGGATCATAGAGGCCCGGGAGCTGCCCCCCAAGAAGCGGTACTACTGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCTGCCTCTGGGGACACCGTCTTCTGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTCCGTGCCCTGCGGCTGCATCCGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCAGGCTATGTCGGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAGCAGTGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGAGGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTGCGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTTGCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAATGTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAGGCCAAGGTGAGTGTTGTGCCCTCAGGGAAAGGTGACTTGGGAATGGGCACTTGCTTGGGGGTTAGTGAGGACAGGGCAAATTCACGAGATTGGGTTGTGCAGAGGCTGACACTTGGATTTTCCTGGGCCTCAGGACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAGCACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTGATTGGTCAGAAATACCTCAAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCCCAAGTCCACCCTTCCACAGCTTGATACTTCCTAACCCAGAGTCCTAGGACTCCAGCCTCCAACACCTGATTCTGAAATTTCCCCAACCCTGGCCACCCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAAGTAGAGTGTATGTAGTAGAGTAGAGGGATGTATGTTGGGGGATGACTGGAATAGAGCC
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Task1_train_10191
|
A genetic alteration is present in SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Intellectual disability, autosomal dominant 5
|
TAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATATCACCTGAGCCTTACCATTAGCTTGTGCTCAATTGTATCCCCCCAGGCCCTTACTGATTCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCAATTCCTGTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCAAATTCTACATTAATATTTTTGGCTTGTTATTCCAGCTTTTGAAATCTTTCCAATACTGTTTGTGTTGTCTAGTGTATGTCTACGCTTCTACAGTAGCTTCCTGGGGCTGCTATAACAAACTGCTACAAACTGGGTCACGTAAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGCCTCTTTTTTTTGAGATGGAATATCGCTCTTGTTTCCCAGGCTTGGAGTGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACTATGCCCAGCTAATTTGTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCTCGAACTCCTGACCTCAGGCAATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAATGAGATACCATGGCTGGCCTCTTCTTAGTTTGATTACATTTGCAGGGATCCTGTTTCCAAATAAGATCACATTCACAGGTTCAGGGTAGACATGAGTTTTGGTGGGATACTATTCAACCCAGTACACCGTCTCACCTTATGATTGCTGTCTGTATCCCACTTTCTTACTGTCTCTCCTCTTTTGGTGTCTCTCTGTCCCTTCCCCCTTTAACATCATGCCCACCCCACCATGCCAGGACAACAGCCGCCGGGTAGACAATGTGCTAAAGCTGTGGATCATAGAGGCCCGGGAGCTGCCCCCCAAGAAGCGGTACTACTGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCTGCCTCTGGGGACACCGTCTTCTGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTCCGTGCCCTGCGGCTGCATCTGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCAGGCTATGTCGGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAGCAGTGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGAGGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTGCGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTTGCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAATGTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAGGCCAAGGTGAGTGTTGTGCCCTCAGGGAAAGGTGACTTGGGAATGGGCACTTGCTTGGGGGTTAGTGAGGACAGGGCAAATTCACGAGATTGGGTTGTGCAGAGGCTGACACTTGGATTTTCCTGGGCCTCAGGACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAGCACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTGATTGGTCAGAAATACCTCAAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCCCAAGTCCACCCTTCCACAGCTTGATACTTCCTAACCCAGAGTCCTAGGACTCCAGCCTCCAACACCTGATTCTGAAATTTCCCCAACCCTGGCCACCCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAAGTAGAGTGTATGTAGTAGAGTAGAGGGATGTATGTTGGGGGATGACTGGAATAGAGCCAGCTGGGGGCTCGGAGGCATGAAAGTCAGATCCTGAATCAGAACAGTGAC
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TAGTCTAGCTTCCCTGCAGGCAGGAATGCTTCACTAATACCCCGCAGGACACATCAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATATCACCTGAGCCTTACCATTAGCTTGTGCTCAATTGTATCCCCCCAGGCCCTTACTGATTCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCAATTCCTGTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCAAATTCTACATTAATATTTTTGGCTTGTTATTCCAGCTTTTGAAATCTTTCCAATACTGTTTGTGTTGTCTAGTGTATGTCTACGCTTCTACAGTAGCTTCCTGGGGCTGCTATAACAAACTGCTACAAACTGGGTCACGTAAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGCCTCTTTTTTTTGAGATGGAATATCGCTCTTGTTTCCCAGGCTTGGAGTGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACTATGCCCAGCTAATTTGTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCTCGAACTCCTGACCTCAGGCAATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAATGAGATACCATGGCTGGCCTCTTCTTAGTTTGATTACATTTGCAGGGATCCTGTTTCCAAATAAGATCACATTCACAGGTTCAGGGTAGACATGAGTTTTGGTGGGATACTATTCAACCCAGTACACCGTCTCACCTTATGATTGCTGTCTGTATCCCACTTTCTTACTGTCTCTCCTCTTTTGGTGTCTCTCTGTCCCTTCCCCCTTTAACATCATGCCCACCCCACCATGCCAGGACAACAGCCGCCGGGTAGACAATGTGCTAAAGCTGTGGATCATAGAGGCCCGGGAGCTGCCCCCCAAGAAGCGGTACTACTGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCTGCCTCTGGGGACACCGTCTTCTGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTCCGTGCCCTGCGGCTGCATCTGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCAGGCTATGTCAGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAGCAGTGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGAGGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTGCGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTTGCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAATGTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAGGCCAAGGTGAGTGTTGTGCCCTCAGGGAAAGGTGACTTGGGAATGGGCACTTGCTTGGGGGTTAGTGAGGACAGGGCAAATTCACGAGATTGGGTTGTGCAGAGGCTGACACTTGGATTTTCCTGGGCCTCAGGACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAGCACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTGATTGGTCAGAAATACCTCAAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCCCAAGTCCACCCTTCCACAGCTTGATACTTCCTAACCCAGAGTCCTAGGACTCCAGCCTCCAACACCTGATTCTGAAATTTCCCCAACCCTGGCCACCCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAAGTAGAGTGTATGTAGTAGAGTAGAGGGATGTATGTTGGGGGATGACTGGAATAGAGCCAGCTGGGGGCTCGGAGGCATGAAAGTCAGATCCTGAATCAGAACAGTGAC
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Task1_train_10192
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A sequence alteration has been identified in SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1) on Chromosome 6. Is it disease-inducing or harmless?
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Pathogenic; Intellectual disability, autosomal dominant 5
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CAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATATCACCTGAGCCTTACCATTAGCTTGTGCTCAATTGTATCCCCCCAGGCCCTTACTGATTCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCAATTCCTGTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCAAATTCTACATTAATATTTTTGGCTTGTTATTCCAGCTTTTGAAATCTTTCCAATACTGTTTGTGTTGTCTAGTGTATGTCTACGCTTCTACAGTAGCTTCCTGGGGCTGCTATAACAAACTGCTACAAACTGGGTCACGTAAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGCCTCTTTTTTTTGAGATGGAATATCGCTCTTGTTTCCCAGGCTTGGAGTGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACTATGCCCAGCTAATTTGTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCTCGAACTCCTGACCTCAGGCAATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAATGAGATACCATGGCTGGCCTCTTCTTAGTTTGATTACATTTGCAGGGATCCTGTTTCCAAATAAGATCACATTCACAGGTTCAGGGTAGACATGAGTTTTGGTGGGATACTATTCAACCCAGTACACCGTCTCACCTTATGATTGCTGTCTGTATCCCACTTTCTTACTGTCTCTCCTCTTTTGGTGTCTCTCTGTCCCTTCCCCCTTTAACATCATGCCCACCCCACCATGCCAGGACAACAGCCGCCGGGTAGACAATGTGCTAAAGCTGTGGATCATAGAGGCCCGGGAGCTGCCCCCCAAGAAGCGGTACTACTGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCTGCCTCTGGGGACACCGTCTTCTGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTCCGTGCCCTGCGGCTGCATCTGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCAGGCTATGTCGGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAGCAGTGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGAGGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTGCGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTTGCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAATGTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAGGCCAAGGTGAGTGTTGTGCCCTCAGGGAAAGGTGACTTGGGAATGGGCACTTGCTTGGGGGTTAGTGAGGACAGGGCAAATTCACGAGATTGGGTTGTGCAGAGGCTGACACTTGGATTTTCCTGGGCCTCAGGACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAGCACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTGATTGGTCAGAAATACCTCAAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCCCAAGTCCACCCTTCCACAGCTTGATACTTCCTAACCCAGAGTCCTAGGACTCCAGCCTCCAACACCTGATTCTGAAATTTCCCCAACCCTGGCCACCCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAAGTAGAGTGTATGTAGTAGAGTAGAGGGATGTATGTTGGGGGATGACTGGAATAGAGCCAGCTGGGGGCTCGGAGGCATGAAAGTCAGATCCTGAATCAGAACAGTGACAGAAGTTAGGAAGGAGCTACTGGAAGGACCCTCTCGGGAAAGGATCAGTAGGAA
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CAAATACACTTAGCCAAGTTTCTGTACCTTGGTTTCCTCTCTAAGACAGAGGGAACTGGTGGCAATGGGTTGGATTAAATGATCTCTAAGGTCCCTTTGGCACATAAATTCTATGAGTCTGTTCTTCCCAAAACTTCATGCTTCCAGTTCTGTCAGCTATTCTCTGTATCCCAGTTTCTAGCAAGCTTACAGTCCTAGTCACACTCCTCTGGGGGGAACTCTTGTGTCTTGATGTCCTTAAAGAACTCAACCCAAGATGCTGACATGATCTGACCTATGCAGAGTACAAACACCATGTTCCCTTTCAACACACTGCAATATCACCTGAGCCTTACCATTAGCTTGTGCTCAATTGTATCCCCCCAGGCCCTTACTGATTCTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTTAAGCAATTCCTGTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGCACCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCAAATTCTACATTAATATTTTTGGCTTGTTATTCCAGCTTTTGAAATCTTTCCAATACTGTTTGTGTTGTCTAGTGTATGTCTACGCTTCTACAGTAGCTTCCTGGGGCTGCTATAACAAACTGCTACAAACTGGGTCACGTAAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGCCTCTTTTTTTTGAGATGGAATATCGCTCTTGTTTCCCAGGCTTGGAGTGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACTATGCCCAGCTAATTTGTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCTCGAACTCCTGACCTCAGGCAATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAATGAGATACCATGGCTGGCCTCTTCTTAGTTTGATTACATTTGCAGGGATCCTGTTTCCAAATAAGATCACATTCACAGGTTCAGGGTAGACATGAGTTTTGGTGGGATACTATTCAACCCAGTACACCGTCTCACCTTATGATTGCTGTCTGTATCCCACTTTCTTACTGTCTCTCCTCTTTTGGTGTCTCTCTGTCCCTTCCCCCTTTAACATCATGCCCACCCCACCATGCCAGGACAACAGCCGCCGGGTAGACAATGTGCTAAAGCTGTGGATCATAGAGGCCCGGGAGCTGCCCCCCAAGAAGCGGTACTACTGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCTGCCTCTGGGGACACCGTCTTCTGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTCCGTGCCCTGCGGCTGCATCTGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCAGGCTATGTCGGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAGCAGCGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGAGGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTGCGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTTGCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAATGTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAGGCCAAGGTGAGTGTTGTGCCCTCAGGGAAAGGTGACTTGGGAATGGGCACTTGCTTGGGGGTTAGTGAGGACAGGGCAAATTCACGAGATTGGGTTGTGCAGAGGCTGACACTTGGATTTTCCTGGGCCTCAGGACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAGCACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTGATTGGTCAGAAATACCTCAAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCCCAAGTCCACCCTTCCACAGCTTGATACTTCCTAACCCAGAGTCCTAGGACTCCAGCCTCCAACACCTGATTCTGAAATTTCCCCAACCCTGGCCACCCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAAGTAGAGTGTATGTAGTAGAGTAGAGGGATGTATGTTGGGGGATGACTGGAATAGAGCCAGCTGGGGGCTCGGAGGCATGAAAGTCAGATCCTGAATCAGAACAGTGACAGAAGTTAGGAAGGAGCTACTGGAAGGACCCTCTCGGGAAAGGATCAGTAGGAA
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Task1_train_10193
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The gene SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; not provided
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CACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCAAATTCTACATTAATATTTTTGGCTTGTTATTCCAGCTTTTGAAATCTTTCCAATACTGTTTGTGTTGTCTAGTGTATGTCTACGCTTCTACAGTAGCTTCCTGGGGCTGCTATAACAAACTGCTACAAACTGGGTCACGTAAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGCCTCTTTTTTTTGAGATGGAATATCGCTCTTGTTTCCCAGGCTTGGAGTGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACTATGCCCAGCTAATTTGTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCTCGAACTCCTGACCTCAGGCAATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAATGAGATACCATGGCTGGCCTCTTCTTAGTTTGATTACATTTGCAGGGATCCTGTTTCCAAATAAGATCACATTCACAGGTTCAGGGTAGACATGAGTTTTGGTGGGATACTATTCAACCCAGTACACCGTCTCACCTTATGATTGCTGTCTGTATCCCACTTTCTTACTGTCTCTCCTCTTTTGGTGTCTCTCTGTCCCTTCCCCCTTTAACATCATGCCCACCCCACCATGCCAGGACAACAGCCGCCGGGTAGACAATGTGCTAAAGCTGTGGATCATAGAGGCCCGGGAGCTGCCCCCCAAGAAGCGGTACTACTGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCTGCCTCTGGGGACACCGTCTTCTGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTCCGTGCCCTGCGGCTGCATCTGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCAGGCTATGTCGGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAGCAGTGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGAGGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTGCGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTTGCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAATGTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAGGCCAAGGTGAGTGTTGTGCCCTCAGGGAAAGGTGACTTGGGAATGGGCACTTGCTTGGGGGTTAGTGAGGACAGGGCAAATTCACGAGATTGGGTTGTGCAGAGGCTGACACTTGGATTTTCCTGGGCCTCAGGACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAGCACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTGATTGGTCAGAAATACCTCAAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCCCAAGTCCACCCTTCCACAGCTTGATACTTCCTAACCCAGAGTCCTAGGACTCCAGCCTCCAACACCTGATTCTGAAATTTCCCCAACCCTGGCCACCCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAAGTAGAGTGTATGTAGTAGAGTAGAGGGATGTATGTTGGGGGATGACTGGAATAGAGCCAGCTGGGGGCTCGGAGGCATGAAAGTCAGATCCTGAATCAGAACAGTGACAGAAGTTAGGAAGGAGCTACTGGAAGGACCCTCTCGGGAAAGGATCAGTAGGAATTGTCAGCTTATTGGAAAGGAGGGAGCATGTCTGTGGGGAGTCACGGATGACTCAAGAGGCCATGAGGCTGGTGGTTGGGAGACCGGTGGCCTCATTGACAACCAGGAAAGTCAGGAGGAGGAGCCAGTTGGAGGTGTGGGGGCGATGGTGAGCTCTGCTTTACACCAGCCGAGTTTAAGGTGTCAGTGGGACATTGAAGTGGAACTGGGAGGTGCGGGGAGTGAGCTCTGAGCCATTCCAGGGACTGGGGATCATGCCTGGGGCACCTCCATCCCCATTTCCCTGGAATCCAGAAGAGTTGGGGGGTCCGAGCTCCCTGTACCTCAAGTGACCCTCCATCTCTCTCCCATCTCTGTCTCTCCCTGGTGTCTGTTTTTCTTCTCCTCCTCTCCTTGTCTCTCTCCCACACCCCTCCATCTCTCTCCCACGTGTCTCTCCCCTCACCTTCTCTCCCCCTCCATTTCTCTCTCCCTAATCTGTCTGTTCCCTCTGCCATGGCCCCCTTCTTCAAGCAGCCTCCCATCTTGCTCCTGCGGTCCCTCCTTCCCTGTCTCTCTCACCCCTGTTTCCACA
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CACCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTCAGGTTGTCTGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACATCTGGCCAAGCTTTACCCATTCTATATGCAATTCTTTTTTCACAATTTCTGATAGTCTCTGCAGGACTTTCCAGTTCCCTTCAAATTCTACATTAATATTTTTGGCTTGTTATTCCAGCTTTTGAAATCTTTCCAATACTGTTTGTGTTGTCTAGTGTATGTCTACGCTTCTACAGTAGCTTCCTGGGGCTGCTATAACAAACTGCTACAAACTGGGTCACGTAAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGCCTCTTTTTTTTGAGATGGAATATCGCTCTTGTTTCCCAGGCTTGGAGTGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACTATGCCCAGCTAATTTGTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCTCGAACTCCTGACCTCAGGCAATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAATGAGATACCATGGCTGGCCTCTTCTTAGTTTGATTACATTTGCAGGGATCCTGTTTCCAAATAAGATCACATTCACAGGTTCAGGGTAGACATGAGTTTTGGTGGGATACTATTCAACCCAGTACACCGTCTCACCTTATGATTGCTGTCTGTATCCCACTTTCTTACTGTCTCTCCTCTTTTGGTGTCTCTCTGTCCCTTCCCCCTTTAACATCATGCCCACCCCACCATGCCAGGACAACAGCCGCCGGGTAGACAATGTGCTAAAGCTGTGGATCATAGAGGCCCGGGAGCTGCCCCCCAAGAAGCGGTACTACTGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCTGCCTCTGGGGACACCGTCTTCTGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTCCGTGCCCTGCGGCTGCATCTGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCAGGCTATGTCGGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAGCAGTGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGAGGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTGCGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTTGCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAATGTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAGGCCAAGGTGAGTGTTGTGCCCTCAGGGAAAGGTGACTTGGGAATGGGCACTTGCTTGGGGGTTAGTGAGGACAGGGCAAATTCACGAGATTGGGTTGTGCAGAGGCTGACACTTGGATTTTCCTGGGCCTCAGGACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAGCACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTGATTGGTCAGAAATACCTCAAGGATGCCATTCGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCCCAAGTCCACCCTTCCACAGCTTGATACTTCCTAACCCAGAGTCCTAGGACTCCAGCCTCCAACACCTGATTCTGAAATTTCCCCAACCCTGGCCACCCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAAGTAGAGTGTATGTAGTAGAGTAGAGGGATGTATGTTGGGGGATGACTGGAATAGAGCCAGCTGGGGGCTCGGAGGCATGAAAGTCAGATCCTGAATCAGAACAGTGACAGAAGTTAGGAAGGAGCTACTGGAAGGACCCTCTCGGGAAAGGATCAGTAGGAATTGTCAGCTTATTGGAAAGGAGGGAGCATGTCTGTGGGGAGTCACGGATGACTCAAGAGGCCATGAGGCTGGTGGTTGGGAGACCGGTGGCCTCATTGACAACCAGGAAAGTCAGGAGGAGGAGCCAGTTGGAGGTGTGGGGGCGATGGTGAGCTCTGCTTTACACCAGCCGAGTTTAAGGTGTCAGTGGGACATTGAAGTGGAACTGGGAGGTGCGGGGAGTGAGCTCTGAGCCATTCCAGGGACTGGGGATCATGCCTGGGGCACCTCCATCCCCATTTCCCTGGAATCCAGAAGAGTTGGGGGGTCCGAGCTCCCTGTACCTCAAGTGACCCTCCATCTCTCTCCCATCTCTGTCTCTCCCTGGTGTCTGTTTTTCTTCTCCTCCTCTCCTTGTCTCTCTCCCACACCCCTCCATCTCTCTCCCACGTGTCTCTCCCCTCACCTTCTCTCCCCCTCCATTTCTCTCTCCCTAATCTGTCTGTTCCCTCTGCCATGGCCCCCTTCTTCAAGCAGCCTCCCATCTTGCTCCTGCGGTCCCTCCTTCCCTGTCTCTCTCACCCCTGTTTCCACA
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Task1_train_10194
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Assess the clinical impact of this variant on gene SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Intellectual disability, autosomal dominant 5
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AAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGCCTCTTTTTTTTGAGATGGAATATCGCTCTTGTTTCCCAGGCTTGGAGTGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACTATGCCCAGCTAATTTGTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCTCGAACTCCTGACCTCAGGCAATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAATGAGATACCATGGCTGGCCTCTTCTTAGTTTGATTACATTTGCAGGGATCCTGTTTCCAAATAAGATCACATTCACAGGTTCAGGGTAGACATGAGTTTTGGTGGGATACTATTCAACCCAGTACACCGTCTCACCTTATGATTGCTGTCTGTATCCCACTTTCTTACTGTCTCTCCTCTTTTGGTGTCTCTCTGTCCCTTCCCCCTTTAACATCATGCCCACCCCACCATGCCAGGACAACAGCCGCCGGGTAGACAATGTGCTAAAGCTGTGGATCATAGAGGCCCGGGAGCTGCCCCCCAAGAAGCGGTACTACTGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCTGCCTCTGGGGACACCGTCTTCTGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTCCGTGCCCTGCGGCTGCATCTGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCAGGCTATGTCGGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAGCAGTGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGAGGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTGCGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTTGCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAATGTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAGGCCAAGGTGAGTGTTGTGCCCTCAGGGAAAGGTGACTTGGGAATGGGCACTTGCTTGGGGGTTAGTGAGGACAGGGCAAATTCACGAGATTGGGTTGTGCAGAGGCTGACACTTGGATTTTCCTGGGCCTCAGGACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAGCACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTGATTGGTCAGAAATACCTCAAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCCCAAGTCCACCCTTCCACAGCTTGATACTTCCTAACCCAGAGTCCTAGGACTCCAGCCTCCAACACCTGATTCTGAAATTTCCCCAACCCTGGCCACCCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAAGTAGAGTGTATGTAGTAGAGTAGAGGGATGTATGTTGGGGGATGACTGGAATAGAGCCAGCTGGGGGCTCGGAGGCATGAAAGTCAGATCCTGAATCAGAACAGTGACAGAAGTTAGGAAGGAGCTACTGGAAGGACCCTCTCGGGAAAGGATCAGTAGGAATTGTCAGCTTATTGGAAAGGAGGGAGCATGTCTGTGGGGAGTCACGGATGACTCAAGAGGCCATGAGGCTGGTGGTTGGGAGACCGGTGGCCTCATTGACAACCAGGAAAGTCAGGAGGAGGAGCCAGTTGGAGGTGTGGGGGCGATGGTGAGCTCTGCTTTACACCAGCCGAGTTTAAGGTGTCAGTGGGACATTGAAGTGGAACTGGGAGGTGCGGGGAGTGAGCTCTGAGCCATTCCAGGGACTGGGGATCATGCCTGGGGCACCTCCATCCCCATTTCCCTGGAATCCAGAAGAGTTGGGGGGTCCGAGCTCCCTGTACCTCAAGTGACCCTCCATCTCTCTCCCATCTCTGTCTCTCCCTGGTGTCTGTTTTTCTTCTCCTCCTCTCCTTGTCTCTCTCCCACACCCCTCCATCTCTCTCCCACGTGTCTCTCCCCTCACCTTCTCTCCCCCTCCATTTCTCTCTCCCTAATCTGTCTGTTCCCTCTGCCATGGCCCCCTTCTTCAAGCAGCCTCCCATCTTGCTCCTGCGGTCCCTCCTTCCCTGTCTCTCTCACCCCTGTTTCCACACCCTCACCTCCTACCACCCCCCTCAGCATGTTCCCTGGAAGCTGAGGGTCTCTGGGGCTCAGTCCCGGTCTCTCTCTTTCTCTCTCTCTCTCTCTGTCTCCCCGACCCTTCCCCCCAGCGTGTTCCCGAGGGAGCTGAAGGAGGTGTTTGCTTCGTGGCGGCTGCGCTGCGCAGAGCGAGGCCGGGAGGACATCGCAGACAGGCTTATCAGCGCCTCACTCTTCCTGCGCTTCCTCTGCCCAGCGATTATGTCGCCCAGTCTCTTTGGGCTTATGCAGGAGTACCCAGATGAGCAGACCTCACGAACCCTCACCCTCATT
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AAAACAACAGAAATTTATTCTCTCACAGTTCAGGAGGCTGGAAGTCCAAAAGCAAGGTATCAGCAGGGCCACGCTCTCTTTGATGCTGTAGCAGGGAATCCTTCCTTGCCTCTTCCTAGCTTCCGGAGGTTGCCAGCAGTCCTTGGCATTCCTGGGCTTATAACTGCATCCGTCTAATTTCTGCCTCCATCTTCATGTAGCTGGCTTCCTTCTGTGTGTCTCTGTATCCTGTATCTCTGTGTCTCCAAATCTCCCTCTCCATATAAAGACACCAGTTTTTATAAGGTGGGTTAAGGGTCCACTCTAATTCAGTATGGCCTCTTTTTTTTGAGATGGAATATCGCTCTTGTTTCCCAGGCTTGGAGTGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACTATGCCCAGCTAATTTGTTTTTGTATTTTTATTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCTCGAACTCCTGACCTCAGGCAATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAATGAGATACCATGGCTGGCCTCTTCTTAGTTTGATTACATTTGCAGGGATCCTGTTTCCAAATAAGATCACATTCACAGGTTCAGGGTAGACATGAGTTTTGGTGGGATACTATTCAACCCAGTACACCGTCTCACCTTATGATTGCTGTCTGTATCCCACTTTCTTACTGTCTCTCCTCTTTTGGTGTCTCTCTGTCCCTTCCCCCTTTAACATCATGCCCACCCCACCATGCCAGGACAACAGCCGCCGGGTAGACAATGTGCTAAAGCTGTGGATCATAGAGGCCCGGGAGCTGCCCCCCAAGAAGCGGTACTACTGTGAGCTCTGCCTGGATGACATGCTGTATGCACGCACCACCTCCAAGCCCCGCTCTGCCTCTGGGGACACCGTCTTCTGGGGCGAGCACTTCGAGTTTAACAACCTGCCGGCTGTCCGTGCCCTGCGGCTGCATCTGTACCGTGACTCAGACAAAAAGCGCAAGAAGGACAAGGCAGGCTATGTCGGCCTGGTGACTGTGCCAGTGGCCACCCTGGCTGGGCGCCACTTCACAGAGCAGTGGTACCCTGTAACCCTGCCAACAGGCAGTGGGGGATCTGGGGGCATGGGTTCGGGAGGGGGAGGGGGCTCGGGGGGTGGCTCAGGGGGCAAGGGCAAAGGAGGTTGCCCGGCTGTGCGGCTGAAAGCACGTTACCAGACAATGAGCATCTTGCCCATGGAGCTATATAAAGAGTTTGCAGAGTATGTCACCAACCATTATCGGATGCTGTGTGCAGTCTTGGAGCCCGCCCTGAATGTCAAAGGCAAGGAGGAGGTTGCCAGTGCACTAGTTCACATCCTGCAGAGTACAGGCAAGGCCAAGGTGAGTGTTGTGCCCTCAGGGAAAGGTGACTTGGGAATGGGCACTTGCTTGGGGGTTAGTGAGGACAGGGCAAATTCACGAGATTGGGTTGTGCAGAGGCTGACACTTGGATTTTCCTGGGCCTCAGGACTTCCTTTCAGACATGGCCATGTCTGAGGTAGACCGGTTCATGGAACGGGAGCACCTCATATTCCGCGAGAACACGCTTGCCACTAAAGCCATAGAAGAGTATATGAGACTGATTGGTCAGAAATACCTCAAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCCCAAGTCCACCCTTCCACAGCTTGATACTTCCTAACCCAGAGTCCTAGGACTCCAGCCTCCAACACCTGATTCTGAAATTTCCCCAACCCTGGCCACCCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTATGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAAGTAGAGTGTATGTAGTAGAGTAGAGGGATGTATGTTGGGGGATGACTGGAATAGAGCCAGCTGGGGGCTCGGAGGCATGAAAGTCAGATCCTGAATCAGAACAGTGACAGAAGTTAGGAAGGAGCTACTGGAAGGACCCTCTCGGGAAAGGATCAGTAGGAATTGTCAGCTTATTGGAAAGGAGGGAGCATGTCTGTGGGGAGTCACGGATGACTCAAGAGGCCATGAGGCTGGTGGTTGGGAGACCGGTGGCCTCATTGACAACCAGGAAAGTCAGGAGGAGGAGCCAGTTGGAGGTGTGGGGGCGATGGTGAGCTCTGCTTTACACCAGCCGAGTTTAAGGTGTCAGTGGGACATTGAAGTGGAACTGGGAGGTGCGGGGAGTGAGCTCTGAGCCATTCCAGGGACTGGGGATCATGCCTGGGGCACCTCCATCCCCATTTCCCTGGAATCCAGAAGAGTTGGGGGGTCCGAGCTCCCTGTACCTCAAGTGACCCTCCATCTCTCTCCCATCTCTGTCTCTCCCTGGTGTCTGTTTTTCTTCTCCTCCTCTCCTTGTCTCTCTCCCACACCCCTCCATCTCTCTCCCACGTGTCTCTCCCCTCACCTTCTCTCCCCCTCCATTTCTCTCTCCCTAATCTGTCTGTTCCCTCTGCCATGGCCCCCTTCTTCAAGCAGCCTCCCATCTTGCTCCTGCGGTCCCTCCTTCCCTGTCTCTCTCACCCCTGTTTCCACACCCTCACCTCCTACCACCCCCCTCAGCATGTTCCCTGGAAGCTGAGGGTCTCTGGGGCTCAGTCCCGGTCTCTCTCTTTCTCTCTCTCTCTCTCTGTCTCCCCGACCCTTCCCCCCAGCGTGTTCCCGAGGGAGCTGAAGGAGGTGTTTGCTTCGTGGCGGCTGCGCTGCGCAGAGCGAGGCCGGGAGGACATCGCAGACAGGCTTATCAGCGCCTCACTCTTCCTGCGCTTCCTCTGCCCAGCGATTATGTCGCCCAGTCTCTTTGGGCTTATGCAGGAGTACCCAGATGAGCAGACCTCACGAACCCTCACCCTCATT
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Task1_train_10195
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The variant affects gene SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Intellectual disability, autosomal dominant 5
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CCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAAGTAGAGTGTATGTAGTAGAGTAGAGGGATGTATGTTGGGGGATGACTGGAATAGAGCCAGCTGGGGGCTCGGAGGCATGAAAGTCAGATCCTGAATCAGAACAGTGACAGAAGTTAGGAAGGAGCTACTGGAAGGACCCTCTCGGGAAAGGATCAGTAGGAATTGTCAGCTTATTGGAAAGGAGGGAGCATGTCTGTGGGGAGTCACGGATGACTCAAGAGGCCATGAGGCTGGTGGTTGGGAGACCGGTGGCCTCATTGACAACCAGGAAAGTCAGGAGGAGGAGCCAGTTGGAGGTGTGGGGGCGATGGTGAGCTCTGCTTTACACCAGCCGAGTTTAAGGTGTCAGTGGGACATTGAAGTGGAACTGGGAGGTGCGGGGAGTGAGCTCTGAGCCATTCCAGGGACTGGGGATCATGCCTGGGGCACCTCCATCCCCATTTCCCTGGAATCCAGAAGAGTTGGGGGGTCCGAGCTCCCTGTACCTCAAGTGACCCTCCATCTCTCTCCCATCTCTGTCTCTCCCTGGTGTCTGTTTTTCTTCTCCTCCTCTCCTTGTCTCTCTCCCACACCCCTCCATCTCTCTCCCACGTGTCTCTCCCCTCACCTTCTCTCCCCCTCCATTTCTCTCTCCCTAATCTGTCTGTTCCCTCTGCCATGGCCCCCTTCTTCAAGCAGCCTCCCATCTTGCTCCTGCGGTCCCTCCTTCCCTGTCTCTCTCACCCCTGTTTCCACACCCTCACCTCCTACCACCCCCCTCAGCATGTTCCCTGGAAGCTGAGGGTCTCTGGGGCTCAGTCCCGGTCTCTCTCTTTCTCTCTCTCTCTCTCTGTCTCCCCGACCCTTCCCCCCAGCGTGTTCCCGAGGGAGCTGAAGGAGGTGTTTGCTTCGTGGCGGCTGCGCTGCGCAGAGCGAGGCCGGGAGGACATCGCAGACAGGCTTATCAGCGCCTCACTCTTCCTGCGCTTCCTCTGCCCAGCGATTATGTCGCCCAGTCTCTTTGGGCTTATGCAGGAGTACCCAGATGAGCAGACCTCACGAACCCTCACCCTCATTGCCAAGGTCATCCAGAACCTGGCCAACTTTTCCAAGTGAGGGAAGCTTCAGGAGTGGGCAGGGCAGGGAGTGGCAGGGCAGGGAGTGGCAGGGCTGGGGGTCGGCAAGAAGGGTCTCCTGAGTCCCCAGAGATCCTGAGATGGGGAGGCTATGATACCTTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGACCTTTATCTTCTGCATTCTTGGCTAGGTTTACCTCAAAGGAGGACTTTCTGGGCTTCATGAATGAGTTTCTGGAGCTGGAATGGGGTTCCATGCAGCAGTTTTTGTATGAGATCTCCAATCTGGACACGCTAACCAACAGCAGTAGCTTTGAGGGTTACATCGACTTGGGCCGAGAGCTCTCCACACTGCATGCCCTACTCTGGGAGGTGCTGCCCCAGCTCAGCAAGGTCAGCAGATCCCCTCTTTGCCCTATCCCCAGATGGCTCCAGAGGTTCCTGGAGCCTGAGAAACTACCCTTTGAAGATTTTTTTTCTCCCCTTGTTTCTCGAGGTGTCACCACTACTATCCCAACTCAGGCCCCCTCCACCTGCACCCTCAGAGGCCCTCTTAGAGCTGGGCACTGAGCCCCCAGGTAACAGCCTCACCCTTCCAGGAAGCCCTCCTGAAGCTGGGTCCACTGCCCCGGCTCCTCAACGACATCAGCACAGCTCTGAGGAACCCCAACATCCAAAGGCAGCCAAGCCGCCAGAGTGAGCGGCCCCGGCCTCAGCCTGTGGTACTGCGGGGGCCATCGGCTGAGATGCAGGGCTACATGATGCGGGACCTCAACAGGTGAGCACCCTGGGACAGCCAGGCCTGTGCCCTAGGAGCCCTTCTCCTATTCTAGATACTCCTCACTGGGCCCCACATGCATCTCTCTAGGGCTTGAAAGAAGGGAGGAAAAAGCACCAAGTTCTCAGGGGAGACGATAAGGAGACAGGTACAGTCAGTGGTAGGCTGAGAGCCCTTTACAGCCTGAGGGAGTGAGAGATTTGGAGCTCTAGGAATAGGGCTGAGGCTCCACCAACTCACGGCTTAGTTGTAAGCCTAGAGCATCCCTGCTGCAAGCTCTGATTTGCTGTCCCTCTGCCTGCCCATGCTAGTCCCCAGGCTGAGGTTCAGCCAGCATGTCATGTCAGCCATGTGTCAAAATGTTCAAACATCTCAGTAATAGCTAGTGAATAAGCACTTCCCCCAGCCCCCGACCACAACCCCACAGACCTCCCCATGATCCAGCACTTAGAGCAGTGACAGCAGAAGCCTAGCAGGGCCTGCAGCCTGCTCCAGAGTCCCAGCCTCCATTCTGATAGGTGGTGCCCGTGCTTCATTTGCTGCTCATTATTTTGATGATGGCCCTGCTTTTTCCTCTGCCCGTGTCTTCCTCCATGACACCATACCCATCCCACCATTCCCGCCTCTCCTTTCATTTGTCCACATCTCTCTCCTTCTCTGTCTGTGCTCGCCCCTCTTTCCATCTCTCTCCAGCTCCATCGACCTTCAGTCCTTCATGGCTCGAGGCCTCAACAGGTGAGGGGCTCTCCCCTCCCCCGCCCTCCTCTCCTCTCCTGTCTGTTCCCTCTCCCACTCCACTGGCCTTCGCCCTACTCCTCTCCTCTCCTCCTCCATGGACCTCATCTCCTCCATATGTGCCCAGCCCTGCCCCCATCCCTTCTCTTGCTGCCCCCATCTCCCCTCCTCTAGGCCTCACCCCCTTCCCGGAGGGGCCCTGTCCTTTCCCTTTACTCACCTGTCCCCTCCCATCCTCCCTGCCTGCCCTCTTCAGGGCTGCCACCGCTAGCTCTCAGCCCTTCCCTCTGGGTCCCACTTTTCACCCCAAGGCCTGTGCC
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CCCCTTCCCTGCCCTTGGAAAGTGTGACCACACCCTCTTGTGCCCCCACCCCCCAGGAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTGGTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAAGTAGAGTGTATGTAGTAGAGTAGAGGGATGTATGTTGGGGGATGACTGGAATAGAGCCAGCTGGGGGCTCGGAGGCATGAAAGTCAGATCCTGAATCAGAACAGTGACAGAAGTTAGGAAGGAGCTACTGGAAGGACCCTCTCGGGAAAGGATCAGTAGGAATTGTCAGCTTATTGGAAAGGAGGGAGCATGTCTGTGGGGAGTCACGGATGACTCAAGAGGCCATGAGGCTGGTGGTTGGGAGACCGGTGGCCTCATTGACAACCAGGAAAGTCAGGAGGAGGAGCCAGTTGGAGGTGTGGGGGCGATGGTGAGCTCTGCTTTACACCAGCCGAGTTTAAGGTGTCAGTGGGACATTGAAGTGGAACTGGGAGGTGCGGGGAGTGAGCTCTGAGCCATTCCAGGGACTGGGGATCATGCCTGGGGCACCTCCATCCCCATTTCCCTGGAATCCAGAAGAGTTGGGGGGTCCGAGCTCCCTGTACCTCAAGTGACCCTCCATCTCTCTCCCATCTCTGTCTCTCCCTGGTGTCTGTTTTTCTTCTCCTCCTCTCCTTGTCTCTCTCCCACACCCCTCCATCTCTCTCCCACGTGTCTCTCCCCTCACCTTCTCTCCCCCTCCATTTCTCTCTCCCTAATCTGTCTGTTCCCTCTGCCATGGCCCCCTTCTTCAAGCAGCCTCCCATCTTGCTCCTGCGGTCCCTCCTTCCCTGTCTCTCTCACCCCTGTTTCCACACCCTCACCTCCTACCACCCCCCTCAGCATGTTCCCTGGAAGCTGAGGGTCTCTGGGGCTCAGTCCCGGTCTCTCTCTTTCTCTCTCTCTCTCTCTGTCTCCCCGACCCTTCCCCCCAGCGTGTTCCCGAGGGAGCTGAAGGAGGTGTTTGCTTCGTCGCGGCTGCGCTGCGCAGAGCGAGGCCGGGAGGACATCGCAGACAGGCTTATCAGCGCCTCACTCTTCCTGCGCTTCCTCTGCCCAGCGATTATGTCGCCCAGTCTCTTTGGGCTTATGCAGGAGTACCCAGATGAGCAGACCTCACGAACCCTCACCCTCATTGCCAAGGTCATCCAGAACCTGGCCAACTTTTCCAAGTGAGGGAAGCTTCAGGAGTGGGCAGGGCAGGGAGTGGCAGGGCAGGGAGTGGCAGGGCTGGGGGTCGGCAAGAAGGGTCTCCTGAGTCCCCAGAGATCCTGAGATGGGGAGGCTATGATACCTTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGACCTTTATCTTCTGCATTCTTGGCTAGGTTTACCTCAAAGGAGGACTTTCTGGGCTTCATGAATGAGTTTCTGGAGCTGGAATGGGGTTCCATGCAGCAGTTTTTGTATGAGATCTCCAATCTGGACACGCTAACCAACAGCAGTAGCTTTGAGGGTTACATCGACTTGGGCCGAGAGCTCTCCACACTGCATGCCCTACTCTGGGAGGTGCTGCCCCAGCTCAGCAAGGTCAGCAGATCCCCTCTTTGCCCTATCCCCAGATGGCTCCAGAGGTTCCTGGAGCCTGAGAAACTACCCTTTGAAGATTTTTTTTCTCCCCTTGTTTCTCGAGGTGTCACCACTACTATCCCAACTCAGGCCCCCTCCACCTGCACCCTCAGAGGCCCTCTTAGAGCTGGGCACTGAGCCCCCAGGTAACAGCCTCACCCTTCCAGGAAGCCCTCCTGAAGCTGGGTCCACTGCCCCGGCTCCTCAACGACATCAGCACAGCTCTGAGGAACCCCAACATCCAAAGGCAGCCAAGCCGCCAGAGTGAGCGGCCCCGGCCTCAGCCTGTGGTACTGCGGGGGCCATCGGCTGAGATGCAGGGCTACATGATGCGGGACCTCAACAGGTGAGCACCCTGGGACAGCCAGGCCTGTGCCCTAGGAGCCCTTCTCCTATTCTAGATACTCCTCACTGGGCCCCACATGCATCTCTCTAGGGCTTGAAAGAAGGGAGGAAAAAGCACCAAGTTCTCAGGGGAGACGATAAGGAGACAGGTACAGTCAGTGGTAGGCTGAGAGCCCTTTACAGCCTGAGGGAGTGAGAGATTTGGAGCTCTAGGAATAGGGCTGAGGCTCCACCAACTCACGGCTTAGTTGTAAGCCTAGAGCATCCCTGCTGCAAGCTCTGATTTGCTGTCCCTCTGCCTGCCCATGCTAGTCCCCAGGCTGAGGTTCAGCCAGCATGTCATGTCAGCCATGTGTCAAAATGTTCAAACATCTCAGTAATAGCTAGTGAATAAGCACTTCCCCCAGCCCCCGACCACAACCCCACAGACCTCCCCATGATCCAGCACTTAGAGCAGTGACAGCAGAAGCCTAGCAGGGCCTGCAGCCTGCTCCAGAGTCCCAGCCTCCATTCTGATAGGTGGTGCCCGTGCTTCATTTGCTGCTCATTATTTTGATGATGGCCCTGCTTTTTCCTCTGCCCGTGTCTTCCTCCATGACACCATACCCATCCCACCATTCCCGCCTCTCCTTTCATTTGTCCACATCTCTCTCCTTCTCTGTCTGTGCTCGCCCCTCTTTCCATCTCTCTCCAGCTCCATCGACCTTCAGTCCTTCATGGCTCGAGGCCTCAACAGGTGAGGGGCTCTCCCCTCCCCCGCCCTCCTCTCCTCTCCTGTCTGTTCCCTCTCCCACTCCACTGGCCTTCGCCCTACTCCTCTCCTCTCCTCCTCCATGGACCTCATCTCCTCCATATGTGCCCAGCCCTGCCCCCATCCCTTCTCTTGCTGCCCCCATCTCCCCTCCTCTAGGCCTCACCCCCTTCCCGGAGGGGCCCTGTCCTTTCCCTTTACTCACCTGTCCCCTCCCATCCTCCCTGCCTGCCCTCTTCAGGGCTGCCACCGCTAGCTCTCAGCCCTTCCCTCTGGGTCCCACTTTTCACCCCAAGGCCTGTGCC
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Task1_train_10196
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This variant affects the gene SYNGAP1, SYNGAP1-AS1 (synaptic Ras GTPase activating protein 1| SYNGAP1 antisense RNA 1) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Intellectual disability, autosomal dominant 5
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TCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAAGTAGAGTGTATGTAGTAGAGTAGAGGGATGTATGTTGGGGGATGACTGGAATAGAGCCAGCTGGGGGCTCGGAGGCATGAAAGTCAGATCCTGAATCAGAACAGTGACAGAAGTTAGGAAGGAGCTACTGGAAGGACCCTCTCGGGAAAGGATCAGTAGGAATTGTCAGCTTATTGGAAAGGAGGGAGCATGTCTGTGGGGAGTCACGGATGACTCAAGAGGCCATGAGGCTGGTGGTTGGGAGACCGGTGGCCTCATTGACAACCAGGAAAGTCAGGAGGAGGAGCCAGTTGGAGGTGTGGGGGCGATGGTGAGCTCTGCTTTACACCAGCCGAGTTTAAGGTGTCAGTGGGACATTGAAGTGGAACTGGGAGGTGCGGGGAGTGAGCTCTGAGCCATTCCAGGGACTGGGGATCATGCCTGGGGCACCTCCATCCCCATTTCCCTGGAATCCAGAAGAGTTGGGGGGTCCGAGCTCCCTGTACCTCAAGTGACCCTCCATCTCTCTCCCATCTCTGTCTCTCCCTGGTGTCTGTTTTTCTTCTCCTCCTCTCCTTGTCTCTCTCCCACACCCCTCCATCTCTCTCCCACGTGTCTCTCCCCTCACCTTCTCTCCCCCTCCATTTCTCTCTCCCTAATCTGTCTGTTCCCTCTGCCATGGCCCCCTTCTTCAAGCAGCCTCCCATCTTGCTCCTGCGGTCCCTCCTTCCCTGTCTCTCTCACCCCTGTTTCCACACCCTCACCTCCTACCACCCCCCTCAGCATGTTCCCTGGAAGCTGAGGGTCTCTGGGGCTCAGTCCCGGTCTCTCTCTTTCTCTCTCTCTCTCTCTGTCTCCCCGACCCTTCCCCCCAGCGTGTTCCCGAGGGAGCTGAAGGAGGTGTTTGCTTCGTGGCGGCTGCGCTGCGCAGAGCGAGGCCGGGAGGACATCGCAGACAGGCTTATCAGCGCCTCACTCTTCCTGCGCTTCCTCTGCCCAGCGATTATGTCGCCCAGTCTCTTTGGGCTTATGCAGGAGTACCCAGATGAGCAGACCTCACGAACCCTCACCCTCATTGCCAAGGTCATCCAGAACCTGGCCAACTTTTCCAAGTGAGGGAAGCTTCAGGAGTGGGCAGGGCAGGGAGTGGCAGGGCAGGGAGTGGCAGGGCTGGGGGTCGGCAAGAAGGGTCTCCTGAGTCCCCAGAGATCCTGAGATGGGGAGGCTATGATACCTTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGACCTTTATCTTCTGCATTCTTGGCTAGGTTTACCTCAAAGGAGGACTTTCTGGGCTTCATGAATGAGTTTCTGGAGCTGGAATGGGGTTCCATGCAGCAGTTTTTGTATGAGATCTCCAATCTGGACACGCTAACCAACAGCAGTAGCTTTGAGGGTTACATCGACTTGGGCCGAGAGCTCTCCACACTGCATGCCCTACTCTGGGAGGTGCTGCCCCAGCTCAGCAAGGTCAGCAGATCCCCTCTTTGCCCTATCCCCAGATGGCTCCAGAGGTTCCTGGAGCCTGAGAAACTACCCTTTGAAGATTTTTTTTCTCCCCTTGTTTCTCGAGGTGTCACCACTACTATCCCAACTCAGGCCCCCTCCACCTGCACCCTCAGAGGCCCTCTTAGAGCTGGGCACTGAGCCCCCAGGTAACAGCCTCACCCTTCCAGGAAGCCCTCCTGAAGCTGGGTCCACTGCCCCGGCTCCTCAACGACATCAGCACAGCTCTGAGGAACCCCAACATCCAAAGGCAGCCAAGCCGCCAGAGTGAGCGGCCCCGGCCTCAGCCTGTGGTACTGCGGGGGCCATCGGCTGAGATGCAGGGCTACATGATGCGGGACCTCAACAGGTGAGCACCCTGGGACAGCCAGGCCTGTGCCCTAGGAGCCCTTCTCCTATTCTAGATACTCCTCACTGGGCCCCACATGCATCTCTCTAGGGCTTGAAAGAAGGGAGGAAAAAGCACCAAGTTCTCAGGGGAGACGATAAGGAGACAGGTACAGTCAGTGGTAGGCTGAGAGCCCTTTACAGCCTGAGGGAGTGAGAGATTTGGAGCTCTAGGAATAGGGCTGAGGCTCCACCAACTCACGGCTTAGTTGTAAGCCTAGAGCATCCCTGCTGCAAGCTCTGATTTGCTGTCCCTCTGCCTGCCCATGCTAGTCCCCAGGCTGAGGTTCAGCCAGCATGTCATGTCAGCCATGTGTCAAAATGTTCAAACATCTCAGTAATAGCTAGTGAATAAGCACTTCCCCCAGCCCCCGACCACAACCCCACAGACCTCCCCATGATCCAGCACTTAGAGCAGTGACAGCAGAAGCCTAGCAGGGCCTGCAGCCTGCTCCAGAGTCCCAGCCTCCATTCTGATAGGTGGTGCCCGTGCTTCATTTGCTGCTCATTATTTTGATGATGGCCCTGCTTTTTCCTCTGCCCGTGTCTTCCTCCATGACACCATACCCATCCCACCATTCCCGCCTCTCCTTTCATTTGTCCACATCTCTCTCCTTCTCTGTCTGTGCTCGCCCCTCTTTCCATCTCTCTCCAGCTCCATCGACCTTCAGTCCTTCATGGCTCGAGGCCTCAACAGGTGAGGGGCTCTCCCCTCCCCCGCCCTCCTCTCCTCTCCTGTCTGTTCCCTCTCCCACTCCACTGGCCTTCGCCCTACTCCTCTCCTCTCCTCCTCCATGGACCTCATCTCCTCCATATGTGCCCAGCCCTGCCCCCATCCCTTCTCTTGCTGCCCCCATCTCCCCTCCTCTAGGCCTCACCCCCTTCCCGGAGGGGCCCTGTCCTTTCCCTTTACTCACCTGTCCCCTCCCATCCTCCCTGCCTGCCCTCTTCAGGGCTGCCACCGCTAGCTCTCAGCCCTTCCCTCTGGGTCCCACTTTTCACCCCAAGGCCTGTGCCAGACCACAGCAAGGTTCAATTGCTAGGAGCCCTGACCTTACCTTCTGCTTGTGTGCCCCCTTCCCTTCTGACAGCTCTATGGACATGGCTCGCCTCCCCTCCCCAACCAAGGAAAAGCCACCCCCACCACCGCCTGGTGGTGGTAAAGACCTGTTCTATGTAAGCCGTCCACCCCTGGCCCGTTCCTCACCAGCATACTGCACGAGCAGCTCGGACATCACAGAGCCAGAGCAGAAGATGCTGAGTGTCAACAAGAGTGTGTCCATGCTGGACTTACAGGGTGATGGGCCTGGTGGCCGCCTCAACAGCAGCAGTGTTTCGAACCTGGCGGCCGTAGGGGACCTGCTGCACTCAAGCCAGGCCTCGCTGACAGCAGCCTTGGGGCTACGGCCTGCGCCTGCCGGACGCCTCTCCCAGGGGAGTGGCTCATCCATCACGGCGGCTGGCATGCGCCTCAGCCAGATGGGTGTCACCACAGACGGTGTCCCTGCCCAGCAACTGCGAATCCCCCTCTCCTTCCAGAACCCTCTCTTCCACATGGCTGCTGATGGGCCAGGTCCCCCAGGCGGCCATGGAGGGGGCGGTGGCCATGGCCCACCTTCCTCCCATCACCACCACCACCACCATCACCACCACCGAGGTGGAGAGCCCCCTGGGGACACCTTTGCCCCATTCCATGGCTATAGCAAGAGTGAGGACCTCTCTTCCGGGGTCCCCAAGCCCCCTGCTGCCTCCATCCTTCATAGCCACAGCTACAGTGATGAGTTTGGACCCTCTGGCACTGACTTCACCCGTCGGCAGCTTTCACTCCAGGACAACCTGCAGCACATGCTGTCCCCTCCCCA
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TCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAAGTAGAGTGTATGTAGTAGAGTAGAGGGATGTATGTTGGGGGATGACTGGAATAGAGCCAGCTGGGGGCTCGGAGGCATGAAAGTCAGATCCTGAATCAGAACAGTGACAGAAGTTAGGAAGGAGCTACTGGAAGGACCCTCTCGGGAAAGGATCAGTAGGAATTGTCAGCTTATTGGAAAGGAGGGAGCATGTCTGTGGGGAGTCACGGATGACTCAAGAGGCCATGAGGCTGGTGGTTGGGAGACCGGTGGCCTCATTGACAACCAGGAAAGTCAGGAGGAGGAGCCAGTTGGAGGTGTGGGGGCGATGGTGAGCTCTGCTTTACACCAGCCGAGTTTAAGGTGTCAGTGGGACATTGAAGTGGAACTGGGAGGTGCGGGGAGTGAGCTCTGAGCCATTCCAGGGACTGGGGATCATGCCTGGGGCACCTCCATCCCCATTTCCCTGGAATCCAGAAGAGTTGGGGGGTCCGAGCTCCCTGTACCTCAAGTGACCCTCCATCTCTCTCCCATCTCTGTCTCTCCCTGGTGTCTGTTTTTCTTCTCCTCCTCTCCTTGTCTCTCTCCCACACCCCTCCATCTCTCTCCCACGTGTCTCTCCCCTCACCTTCTCTCCCCCTCCATTTCTCTCTCCCTAATCTGTCTGTTCCCTCTGCCATGGCCCCCTTCTTCAAGCAGCCTCCCATCTTGCTCCTGCGGTCCCTCCTTCCCTGTCTCTCTCACCCCTGTTTCCACACCCTCACCTCCTACCACCCCCCTCAGCATGTTCCCTGGAAGCTGAGGGTCTCTGGGGCTCAGTCCCGGTCTCTCTCTTTCTCTCTCTCTCTCTCTGTCTCCCCGACCCTTCCCCCCAGCGTGTTCCCGAGGGAGCTGAAGGAGGTGTTTGCTTCGTGGCGGCTGCGCTGCGCAGAGCGAGGCCGGGAGGACATCGCAGACAGGCTTATCAGCGCCTCACTCTTCCTGCGCTTCCTCTGCCCAGCGATTATGTCGCCCAGTCTCTTTGGGCTTATGCAGGAGTACCCAGATGAGCAGACCTCACGAACCCTCACCCTCATTGCCAAGGTCATCCAGAACCTGGCCAACTTTTCCAAGTGAGGGAAGCTTCAGGAGTGGGCAGGGCAGGGAGTGGCAGGGCAGGGAGTGGCAGGGCTGGGGGTCGGCAAGAAGGGTCTCCTGAGTCCCCAGAGATCCTGAGATGGGGAGGCTATGATACCTTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGACCTTTATCTTCTGCATTCTTGGCTAGGTTTACCTCAAAGGAGGACTTTCTGGGCTTCATGAATGAGTTTCTGGAGCTGGAATGGGGTTCCATGCAGCAGTTTTTGTATGAGATCTCCAATCTGGACACGCTAACCAACAGCAGTAGCTTTGAGGGTTACATCGACTTGGGCCGAGAGCTCTCCACACTGCATGCCCTACTCTGGGAGGTGCTGCCCCAGCTCAGCAAGGTCAGCAGATCCCCTCTTTGCCCTATCCCCAGATGGCTCCAGAGGTTCCTGGAGCCTGAGAAACTACCCTTTGAAGATTTTTTTTCTCCCCTTGTTTCTCGAGGTGTCACCACTACTATCCCAACTCAGGCCCCCTCCACCTGCACCCTCAGAGGCCCTCTTAGAGCTGGGCACTGAGCCCCCAGGTAACAGCCTCACCCTTCCAGGAAGCCCTCCTGAAGCTGGGTCCACTGCCCCAGCTCCTCAACGACATCAGCACAGCTCTGAGGAACCCCAACATCCAAAGGCAGCCAAGCCGCCAGAGTGAGCGGCCCCGGCCTCAGCCTGTGGTACTGCGGGGGCCATCGGCTGAGATGCAGGGCTACATGATGCGGGACCTCAACAGGTGAGCACCCTGGGACAGCCAGGCCTGTGCCCTAGGAGCCCTTCTCCTATTCTAGATACTCCTCACTGGGCCCCACATGCATCTCTCTAGGGCTTGAAAGAAGGGAGGAAAAAGCACCAAGTTCTCAGGGGAGACGATAAGGAGACAGGTACAGTCAGTGGTAGGCTGAGAGCCCTTTACAGCCTGAGGGAGTGAGAGATTTGGAGCTCTAGGAATAGGGCTGAGGCTCCACCAACTCACGGCTTAGTTGTAAGCCTAGAGCATCCCTGCTGCAAGCTCTGATTTGCTGTCCCTCTGCCTGCCCATGCTAGTCCCCAGGCTGAGGTTCAGCCAGCATGTCATGTCAGCCATGTGTCAAAATGTTCAAACATCTCAGTAATAGCTAGTGAATAAGCACTTCCCCCAGCCCCCGACCACAACCCCACAGACCTCCCCATGATCCAGCACTTAGAGCAGTGACAGCAGAAGCCTAGCAGGGCCTGCAGCCTGCTCCAGAGTCCCAGCCTCCATTCTGATAGGTGGTGCCCGTGCTTCATTTGCTGCTCATTATTTTGATGATGGCCCTGCTTTTTCCTCTGCCCGTGTCTTCCTCCATGACACCATACCCATCCCACCATTCCCGCCTCTCCTTTCATTTGTCCACATCTCTCTCCTTCTCTGTCTGTGCTCGCCCCTCTTTCCATCTCTCTCCAGCTCCATCGACCTTCAGTCCTTCATGGCTCGAGGCCTCAACAGGTGAGGGGCTCTCCCCTCCCCCGCCCTCCTCTCCTCTCCTGTCTGTTCCCTCTCCCACTCCACTGGCCTTCGCCCTACTCCTCTCCTCTCCTCCTCCATGGACCTCATCTCCTCCATATGTGCCCAGCCCTGCCCCCATCCCTTCTCTTGCTGCCCCCATCTCCCCTCCTCTAGGCCTCACCCCCTTCCCGGAGGGGCCCTGTCCTTTCCCTTTACTCACCTGTCCCCTCCCATCCTCCCTGCCTGCCCTCTTCAGGGCTGCCACCGCTAGCTCTCAGCCCTTCCCTCTGGGTCCCACTTTTCACCCCAAGGCCTGTGCCAGACCACAGCAAGGTTCAATTGCTAGGAGCCCTGACCTTACCTTCTGCTTGTGTGCCCCCTTCCCTTCTGACAGCTCTATGGACATGGCTCGCCTCCCCTCCCCAACCAAGGAAAAGCCACCCCCACCACCGCCTGGTGGTGGTAAAGACCTGTTCTATGTAAGCCGTCCACCCCTGGCCCGTTCCTCACCAGCATACTGCACGAGCAGCTCGGACATCACAGAGCCAGAGCAGAAGATGCTGAGTGTCAACAAGAGTGTGTCCATGCTGGACTTACAGGGTGATGGGCCTGGTGGCCGCCTCAACAGCAGCAGTGTTTCGAACCTGGCGGCCGTAGGGGACCTGCTGCACTCAAGCCAGGCCTCGCTGACAGCAGCCTTGGGGCTACGGCCTGCGCCTGCCGGACGCCTCTCCCAGGGGAGTGGCTCATCCATCACGGCGGCTGGCATGCGCCTCAGCCAGATGGGTGTCACCACAGACGGTGTCCCTGCCCAGCAACTGCGAATCCCCCTCTCCTTCCAGAACCCTCTCTTCCACATGGCTGCTGATGGGCCAGGTCCCCCAGGCGGCCATGGAGGGGGCGGTGGCCATGGCCCACCTTCCTCCCATCACCACCACCACCACCATCACCACCACCGAGGTGGAGAGCCCCCTGGGGACACCTTTGCCCCATTCCATGGCTATAGCAAGAGTGAGGACCTCTCTTCCGGGGTCCCCAAGCCCCCTGCTGCCTCCATCCTTCATAGCCACAGCTACAGTGATGAGTTTGGACCCTCTGGCACTGACTTCACCCGTCGGCAGCTTTCACTCCAGGACAACCTGCAGCACATGCTGTCCCCTCCCCA
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Task1_train_10197
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This sequence variant lies in ITPR3 (inositol 1,4,5-trisphosphate receptor type 3) on Chromosome 6. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Charcot-Marie-Tooth disease, demyelinating, type 1J
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TCAGCGATGTCCCCAACAATGGGCAGAATGTCCTGGACATCATGGTCACTAAGCCCAACCGGGAACGGCAGAAGCTGATGAGGGAGCAGAACATCCTCAAACAGGTGCGTGTGCACCCATGAGGGGACGCAGAGGGGCCGGGTGCCCGGGAGAGGGATGCCTTCAACTGCAGGCTCATCCCCCGCTTTAACAAAAATCAGTATATATGGGGCACGACCACGTGCCAGGGACTTCCCTAAGTACCCCACATGTGTTGACGAATTTGATCCTCACTGCCTGGAGGAGGCGCCGTGATTCTTACCCCGTTTTACTGGTGAGGAAGCTGAAACACAGGCCAGAGTCGCTGTCCCAGGGCTCACAGCTAGGAAGCGGCAGCCAGGATTTGAGCTTGTGATGTTGGGTCCAGAGCTGTGCTTCAAAAAATTTTTTTAAAAATTTTTTTATTATGAGAATCATCAAATATTGAGAAAGTATTGGAAGAATAGTACAGGGAACAAGGTGCCTCACTGTTTTGCTGCCTTGGCTTTATGTAGCTCGGTTCACACATCCGTCTTTCCATCCACACATTGCAAAATAGGCAGCATTTTACACCCAAAAGTTTCAGCAGGCATCCCTAACAATAGGGACATTGCCTTACATAACCATAGTACATGATCACACCTAAGAAAATTACAACAATACCAAGTCCATATCACATTTCTCTAATGTTCCCAGAATGTCTTTGTAAAGTTTGTTTTTTTTTTTTTAGAAACGAGGATCCAATTAAGGTTTTTTCATTCCATTCTGTTGCTCTGTCACTTTGGTCTCTGTTTCAGAACAATTTTTCACCTCTCCACCCAGCCCCAGCCTTTAAAACATTTTTGTAATTATGTAACATTTTACTTTGACAAGGCAGGCCTGTGTCTCATCTCTTAAGCTCTGGCCACAGCGGTCCGGCCTGCCTTTTCTCTTAGCCTTAGACCCTGAGCTGCCGAGACCCTCTGCTCCTCCCCCAGGCCCCAGATCTGAGCTGGGATTAGAATCCGCATCAGGGAGGGATAGGCTGGGGTCAGCTTCGGGATTCCAACAAGGAGTAGGGAGAGCTGGGGCTGAGGATGGCTGGGCTGGGGTTGTGGTCCAGCTTAGAATCAGCTCGAAGCTGATGTCCGGGCTGGCTTTAGGGCAGAGTCAGTTGGGACTCAGGGATGACTCCTGGGATGACTTAGGGGTACAGACAGGTGTTGGGGAATCAGTCCTCACCCTCTGTATTCCCCCAGGTCTTTGGCATTCTGAAGGCCCCGTTCCGTGAGAAGGGGGGTGAAGGTCCCCTGGTGCGGCTGGAGGAGCTGTCAGACCAGAAGAACGCCCCCTACCAGCACATGTTCCGCCTGTGCTACCGCGTGTTGCGGCATTCCCAGGAGGACTACCGCAAGAACCAGGTGCGCCGCTGCCCTGCTGGCCCACTCGCTGGCTGCACGTTCCTTCCTCAGCAAGCGATTTCCTCAGGCACATGTGCTGTGCCAGGCACTGTTTTGGGGCCTAGGGTCCAGTAGGGCACCAGACAGCAGGGCCGGGTTCATGGGAATGGGACCTGGCCCGGTGCTCACAAGGGCCTTGCACTGGGTTAGATGCTCTGCTGCTGAGCAAGGGTCCTGCTCTTTCATTCTGCACTGGGCCCTACAAGTTATGTAGCCAATCCTTCCACACAAACAAGGTCCCTGCCCTCGTGGAGGTTTCGCTCTGGTGGGAAACAGCCCACAAGCTAAATAACTATGTAATGTAAGCCACTCTTCTGCCCAGCGATGCTTCCTTTCCTGGACCTCTGCCTTTCTAGGGTATTGGGTCCTTACCTCGGGGTTTGGGGGCAGCGTTCCAGAGCAGAGCTGGGCCCTTGGCCCACCTGTGACTCTCTGTGACCCCCAGCCTGTCTGCCCCCCCAGGAGCACATTGCCAAGCAGTTTGGGATGATGCAGTCCCAGATTGGCTACGACATCCTGGCCGAGGACACCATCACTGCCCTGCTGCACAACAACCGCAAGCTCCTGGAAAAGCACATCACCAAGACCGAGGTGGAGACCTTCGTCAGCCTTGTGCGCAAGAACCGGGAGCCCAGGTGGGCCCGAACCCCCTCCCCGGCCGGCGCCTGCTCCTCCCTCCTCCCTTGCCTGGGTAGAAACTCTGCTGGTTGTGTGAACTATTCCTGCACCTGTTGGTAACTGCCACCCTGAATAGCACTGGGTGGCTCAGCACTGGGAGGCCCTAGCCTCCCTAGCCCTTCTCTGGGATCCCCTAAAATTTGGCCCACTCTGGCAACAATGGGAATGACTCCTTGTACCACTAGAGGCCCCCAAGACCTTCTCCAGTGACAAAGTCAGAACCTGTATTGAACCAGTTGTTAAATATTTTGAATATCACCTCGGCCCTTGCGCTTCCTCACCCTGTCCGTCTGAACCCCCATCTAGCCTTCCCGGACCCCAGGGTGATGCCCTGGGGCTTTCCCTCCTTGGGGAGCTGGGAGTCCATCCCACCCATCTCTAAGCCTTGGGAGGGAGCTAGTTCCAGGGTGGCGGTGCTGCCAGCTGGGGAAGGGGAAGGGTGGGCTCTGTCCTTAGAGGGACCAGCCTCTGAGACCCTCTTCCCACCGCTGGCTGTCACCACCCCAGGTTCCTGGACTACCTCTCTGACCTGTGTGTGTCCAACCACATCGCCATCCCCGTCACCCAAGAGCTCATCTGCAAGTGTGTGCTGGACCCCAAGAACAGTGACATTCTCATCCGGACCGAGTGAGCCCTGTGCCCCCTGCCCGCACTTGGGCTCCACGCTGCTGACCCCCAGCTGTCTTAGAGCTTAGGCCCTGTCTGGGTTCAGGCTGGAACTGGCACCCTTGCTCTCTGCAGCTGTGAACTCTGTGCCTGTTATGTGCCCCGCTGTGTGCCTGGCACTGTGGGGGAGTGGGGAAGGGGCACAGAAAAGAATGAGCCACGGACCCTGCCCTTGAGATGCATATGGTCTCTCTGGGTCCCCGTGGTGGCTGGCACTGTGTGGCCGGGTGTGCTCAGGGAGGGGTCCAGGCGTAGTGCCCTGGACCTGGCTCCCTGTGACAGGTTGCTGGTGGTCTGCAGGCTTCGGCCCGTGAAGGAGATGGCCCAATCCCACGAGTACCTGAGCATCGAGTACTCAGAAGAGGAAGTGTGGCTCACGTGGACTGACAAGAATAACGAGCATCATGAGAAGAGTGTGAGGCAGCTGGCCCAGGAGGCGCGGGCCGGCAACGCCCACGACGAGAATGTGCTCAGCTACTACAGGTGCCCCGCCCCAGCTCCTCCCCTCCCTCTTCCTGTGCCTTTGGGCCTTCTCAGTAGGCCGTCAGTCAATCCCTGCTGAGGATGAGCTCTGACAGCCTCAGGTGGGGCTCCTGCCTCCTCAGAAGCGGAGTCCCTGCTGTCACTCCCCTGCCACGAAGCCTCATTCCAGGAAGGCTGAGTGAAGAGGACTGTGTGCCCCGAATAGCACTGGGTGGCTCGGCACAGGAACCAGGCTTCAAAGAAACCCAGACTGTTTTCAAACATGTATATTATTAAAATAATCTCACCAAATTAGCTAGCCATGGTGGTGCACACCTGTAGTCCCAGCTACTTGGCAGGCTGAGGCATGGGAATCGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATCGCACTACTGCACTCCAGCCTGGGTTACAGAGAAAGACTCTGTCTCAAAAAAACAAATCATCATCATAATAATCTCTTTAGACGCCCTTCTTACAATGCTTGCCACGTAGTGGGCACTTTTTTAAGCACTTGTCCTGATCCTTCATTTGAGCCACATGACAACCCTTGTTGTAGCTACTATAGTTACTCCTGTTGTAAAGCTGGGGAAACAGTGGCAGAGAGAGGTAAAGGAACTTGCCCAAGGTTACACAGCCATCAGTAGAGAGCCAGGGCCCACACCCAGGCTATCTGGCTCCAGAGCCCCCAGGAAGTCATGTCTGTGAGGAGGAGGCAGAGGGCCTGGTATTGCCAGGGCAGCACAGAGCTTCCCACGTTCCTCATTTTGGTATCCCCTCTATCAAGGTTGCACCCCTTTCAC
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TCAGCGATGTCCCCAACAATGGGCAGAATGTCCTGGACATCATGGTCACTAAGCCCAACCGGGAACGGCAGAAGCTGATGAGGGAGCAGAACATCCTCAAACAGGTGCGTGTGCACCCATGAGGGGACGCAGAGGGGCCGGGTGCCCGGGAGAGGGATGCCTTCAACTGCAGGCTCATCCCCCGCTTTAACAAAAATCAGTATATATGGGGCACGACCACGTGCCAGGGACTTCCCTAAGTACCCCACATGTGTTGACGAATTTGATCCTCACTGCCTGGAGGAGGCGCCGTGATTCTTACCCCGTTTTACTGGTGAGGAAGCTGAAACACAGGCCAGAGTCGCTGTCCCAGGGCTCACAGCTAGGAAGCGGCAGCCAGGATTTGAGCTTGTGATGTTGGGTCCAGAGCTGTGCTTCAAAAAATTTTTTTAAAAATTTTTTTATTATGAGAATCATCAAATATTGAGAAAGTATTGGAAGAATAGTACAGGGAACAAGGTGCCTCACTGTTTTGCTGCCTTGGCTTTATGTAGCTCGGTTCACACATCCGTCTTTCCATCCACACATTGCAAAATAGGCAGCATTTTACACCCAAAAGTTTCAGCAGGCATCCCTAACAATAGGGACATTGCCTTACATAACCATAGTACATGATCACACCTAAGAAAATTACAACAATACCAAGTCCATATCACATTTCTCTAATGTTCCCAGAATGTCTTTGTAAAGTTTGTTTTTTTTTTTTTAGAAACGAGGATCCAATTAAGGTTTTTTCATTCCATTCTGTTGCTCTGTCACTTTGGTCTCTGTTTCAGAACAATTTTTCACCTCTCCACCCAGCCCCAGCCTTTAAAACATTTTTGTAATTATGTAACATTTTACTTTGACAAGGCAGGCCTGTGTCTCATCTCTTAAGCTCTGGCCACAGCGGTCCGGCCTGCCTTTTCTCTTAGCCTTAGACCCTGAGCTGCCGAGACCCTCTGCTCCTCCCCCAGGCCCCAGATCTGAGCTGGGATTAGAATCCGCATCAGGGAGGGATAGGCTGGGGTCAGCTTCGGGATTCCAACAAGGAGTAGGGAGAGCTGGGGCTGAGGATGGCTGGGCTGGGGTTGTGGTCCAGCTTAGAATCAGCTCGAAGCTGATGTCCGGGCTGGCTTTAGGGCAGAGTCAGTTGGGACTCAGGGATGACTCCTGGGATGACTTAGGGGTACAGACAGGTGTTGGGGAATCAGTCCTCACCCTCTGTATTCCCCCAGGTCTTTGGCATTCTGAAGGCCCCGTTCCGTGAGAAGGGGGGTGAAGGTCCCCTGGTGCGGCTGGAGGAGCTGTCAGACCAGAAGAACGCCCCCTACCAGCACATGTTCCGCCTGTGCTACCGCGTGTTGCGGCATTCCCAGGAGGACTACCGCAAGAACCAGGTGCGCCGCTGCCCTGCTGGCCCACTCGCTGGCTGCACGTTCCTTCCTCAGCAAGCGATTTCCTCAGGCACATGTGCTGTGCCAGGCACTGTTTTGGGGCCTAGGGTCCAGTAGGGCACCAGACAGCAGGGCCGGGTTCATGGGAATGGGACCTGGCCCGGTGCTCACAAGGGCCTTGCACTGGGTTAGATGCTCTGCTGCTGAGCAAGGGTCCTGCTCTTTCATTCTGCACTGGGCCCTACAAGTTATGTAGCCAATCCTTCCACACAAACAAGGTCCCTGCCCTCGTGGAGGTTTCGCTCTGGTGGGAAACAGCCCACAAGCTAAATAACTATGTAATGTAAGCCACTCTTCTGCCCAGCGATGCTTCCTTTCCTGGACCTCTGCCTTTCTAGGGTATTGGGTCCTTACCTCGGGGTTTGGGGGCAGCGTTCCAGAGCAGAGCTGGGCCCTTGGCCCACCTGTGACTCTCTGTGACCCCCAGCCTGTCTGCCCCCCCAGGAGCACATTGCCAAGCAGTTTGGGATGATGCAGTCCCAGATTGGCTACGACATCCTGGCCGAGGACACCATCACTGCCCTGCTGCACAACAACCGCAAGCTCCTGGAAAAGCACATCACCAAGACCGAGATGGAGACCTTCGTCAGCCTTGTGCGCAAGAACCGGGAGCCCAGGTGGGCCCGAACCCCCTCCCCGGCCGGCGCCTGCTCCTCCCTCCTCCCTTGCCTGGGTAGAAACTCTGCTGGTTGTGTGAACTATTCCTGCACCTGTTGGTAACTGCCACCCTGAATAGCACTGGGTGGCTCAGCACTGGGAGGCCCTAGCCTCCCTAGCCCTTCTCTGGGATCCCCTAAAATTTGGCCCACTCTGGCAACAATGGGAATGACTCCTTGTACCACTAGAGGCCCCCAAGACCTTCTCCAGTGACAAAGTCAGAACCTGTATTGAACCAGTTGTTAAATATTTTGAATATCACCTCGGCCCTTGCGCTTCCTCACCCTGTCCGTCTGAACCCCCATCTAGCCTTCCCGGACCCCAGGGTGATGCCCTGGGGCTTTCCCTCCTTGGGGAGCTGGGAGTCCATCCCACCCATCTCTAAGCCTTGGGAGGGAGCTAGTTCCAGGGTGGCGGTGCTGCCAGCTGGGGAAGGGGAAGGGTGGGCTCTGTCCTTAGAGGGACCAGCCTCTGAGACCCTCTTCCCACCGCTGGCTGTCACCACCCCAGGTTCCTGGACTACCTCTCTGACCTGTGTGTGTCCAACCACATCGCCATCCCCGTCACCCAAGAGCTCATCTGCAAGTGTGTGCTGGACCCCAAGAACAGTGACATTCTCATCCGGACCGAGTGAGCCCTGTGCCCCCTGCCCGCACTTGGGCTCCACGCTGCTGACCCCCAGCTGTCTTAGAGCTTAGGCCCTGTCTGGGTTCAGGCTGGAACTGGCACCCTTGCTCTCTGCAGCTGTGAACTCTGTGCCTGTTATGTGCCCCGCTGTGTGCCTGGCACTGTGGGGGAGTGGGGAAGGGGCACAGAAAAGAATGAGCCACGGACCCTGCCCTTGAGATGCATATGGTCTCTCTGGGTCCCCGTGGTGGCTGGCACTGTGTGGCCGGGTGTGCTCAGGGAGGGGTCCAGGCGTAGTGCCCTGGACCTGGCTCCCTGTGACAGGTTGCTGGTGGTCTGCAGGCTTCGGCCCGTGAAGGAGATGGCCCAATCCCACGAGTACCTGAGCATCGAGTACTCAGAAGAGGAAGTGTGGCTCACGTGGACTGACAAGAATAACGAGCATCATGAGAAGAGTGTGAGGCAGCTGGCCCAGGAGGCGCGGGCCGGCAACGCCCACGACGAGAATGTGCTCAGCTACTACAGGTGCCCCGCCCCAGCTCCTCCCCTCCCTCTTCCTGTGCCTTTGGGCCTTCTCAGTAGGCCGTCAGTCAATCCCTGCTGAGGATGAGCTCTGACAGCCTCAGGTGGGGCTCCTGCCTCCTCAGAAGCGGAGTCCCTGCTGTCACTCCCCTGCCACGAAGCCTCATTCCAGGAAGGCTGAGTGAAGAGGACTGTGTGCCCCGAATAGCACTGGGTGGCTCGGCACAGGAACCAGGCTTCAAAGAAACCCAGACTGTTTTCAAACATGTATATTATTAAAATAATCTCACCAAATTAGCTAGCCATGGTGGTGCACACCTGTAGTCCCAGCTACTTGGCAGGCTGAGGCATGGGAATCGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCAAGATCGCACTACTGCACTCCAGCCTGGGTTACAGAGAAAGACTCTGTCTCAAAAAAACAAATCATCATCATAATAATCTCTTTAGACGCCCTTCTTACAATGCTTGCCACGTAGTGGGCACTTTTTTAAGCACTTGTCCTGATCCTTCATTTGAGCCACATGACAACCCTTGTTGTAGCTACTATAGTTACTCCTGTTGTAAAGCTGGGGAAACAGTGGCAGAGAGAGGTAAAGGAACTTGCCCAAGGTTACACAGCCATCAGTAGAGAGCCAGGGCCCACACCCAGGCTATCTGGCTCCAGAGCCCCCAGGAAGTCATGTCTGTGAGGAGGAGGCAGAGGGCCTGGTATTGCCAGGGCAGCACAGAGCTTCCCACGTTCCTCATTTTGGTATCCCCTCTATCAAGGTTGCACCCCTTTCAC
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Task1_train_10198
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Gene ITPR3 (inositol 1,4,5-trisphosphate receptor type 3), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Charcot-Marie-Tooth disease, demyelinating, type 1J
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AGCCCGACCCACCCCTGCTCCTGTCAGAGCTCAGCCAGGGCCTCGCCTCCCTCCTTGGTGGGCCCAGCACCCTCTCCCTGACTCCTGTGTCCAGGGTGATGCCAAGATGATGGAGATCCTGCGCTACACGCACCAGTTCCTGCAGAAGTTCTGTGCAGGGAACCCCGGCAACCAGGCCCTGCTGCACAAACACCTGCACCTCTTCCTCACGCCAGGGGTGAGGGTGCAGGGCTGGGAGCACCTGGACGAGGCGGGGGATGGGGGGTGGGGGCGGGGCCCAGATCTCTTTCTGACAGATGCCCCCCACTGCAGCTCCTGGAGGCAGAGACCATGCAGCACATCTTCCTGAACAACTATCAGCTCTGCTCCGAGATCAGCGAGCCTGTGTTGCAGCACTTCGTGCACCTGCTGGCCACGCACGGGCGCCATGTGCAGTACCTGGACTTCCTGCACACCGTCATTAAGGCCGAGGGCAAGTACGTCAAGAAGTGCCAGGACATGATCATGACTGAGGTGAGGGCGGGGCTGAGGGGTGCTCAGGCATCTTGGGGTGGGGGACCGGAGCAGAGGCTTGGCGGGAAGGCCACAGAGTTAGAGAAGTCAGACGGTGGGTCACAAAAGGAACACTCAGCTGCTGACCATGGAGGGGACGCAGAGGGAGAAGTGAGGCTGCAGATGTGGTAGAACTCAGCCTGTGGGCCTGATAGAACTCAAGCAGGGTCCCAGTAGCATCAGGCACCTAGCAGAACTCAGACAACAGGCCAGAAAGAAATCAAGCATGCATTCCTTGTCACTTGTCGTCGTTTATTTAAAATCAGGAAGCACCTGCTACGTGCCACGGACTGTACATGCATGGGGGACATCAGCTGAGTGTCAGCTCCTGGGGGGCACGGGCAGGGACCCCATCCTTTGTGTGCATCGCCAGGGCCCCAGTGTGTGGCGCATAGTAGGTTCTCAACAGACACCTGTTGAGTGAAGGCACGAAGGATACAGGGCTGAGTCTAAATCTGGAACAGACGTGGTCCCTGCCCCTGAGCATCTGACAGTGTAGGCGGCAGGGGGAGAAAGAAGCAAACACTGAAGGGAGATTAGGACATCATAAACAAGACATGATGTGCTGGAACTGCTGTACAGTGTTAGTTTTATTAATTTCTATTATTATATTACTGCGAATAATGCAGTCGCTGGCACGAGAGGTGTGTGCTCAGTGAGGAGGGTTTAAGTAACTGCTGCGGGAGCACAGGGGAGGGAGGGGGTGAGCAAGGCGGGATTAGCGAGGCTTCCTGGAGGAAGCTGCCTCTGAGATGACCCCTATGGGACTTCTTTCCAGTGGGGAGAAGCGGGGACTTTCTGGGTCATGGGGTCAATATCTCTGCTGGCAGAGGGCCTGAGACATCAGCTGGGGAACCCCCAAATCCCAGCCAGGGGAGGGTTTTCCTGATTTCAGGTAAGGGCTGTGGTCAGAGTCCCAGTTTCTCCCTGGTAAGCAACGGAGAGGAGAGCCCAGGGCTTGCTGGACCGAGAGAGTGTGACACGTGCCCCCTCCCACCCGCAGCTGACCAATGCAGGTGACGATGTGGTCGTGTTCTACAATGATAAGGCATCGCTGGCCCACCTGCTGGACATGATGAAGGCCGCCCGCGACGGCGTGGAGGACCACAGCCCCCTCATGTACCACATTTCCCTGGTGGACCTGCTGGCCGCCTGTGCCGAGGGCAAAAACGTCTACACTGAGATCAAGTGCACCTCCCTGCTGCCGCTGGAGGACGTGGTGTCTGTGGTGACGCATGAGGACTGCATCACTGAGGTGGGGATCGGGAGACTGGGCAAGACGGCTGGAGATGGGGCGAAGGGGTGGGTAAAGCCACGGGACAGGAAGAGTGGGTGAAGCAAAGCCAGGGAAGTGGGCAGGAACCGGAGGCCAGGGGACAGGAGCATTGTGGCAGGGAGAGCCTGGCCAGGCGGCCCTGCTTGCGCCCCTGACCTCCCGCCCACTGCCCAGGTGAAAATGGCCTATGTGAACTTCGTGAACCACTGCTACGTGGACACGGAGGTGGAGATGAAGGAGATCTACACCAGCAACCACATCTGGACGCTCTTTGAGAACTTCACCCTGGACATGGCCCGGGTCTGTCCCTGTGAGGGGTGTGGGTGAAGCCCCCCAGGAGGTGTGGGAGTGGAGGGGCCCCATGTGAGGAGCCCCCAGCCATCCCTCTCTCCTGCCTCAGGTCTGCAGCAAGCGTGAGAAGCGCGTGGCTGACCCCACCTTGGAGAAGTACGTGCTGAGCGTTGTGCTGGACACCATCAACGCCTTCTTCAGCTCCCCATTCTCTGAGAACAGCACTTCCCTGCAGGTGAGCTTCTCCTCTCCCACCACCCCAGGGCCGACTTGCCTAGCTTTTGTGAAGGGAAGGGGGGAAATAAGAATACATATTTATATTTGCTTATAGTACAGAAAGAAGTAACAAAAGGATACATAAGTGTATTGGTTATCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTTACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCGCGCCCGGCCTAAGTATATTAGTTATCTATACCGTGTTAACAAATTATCCCCAAACCTAGCAGTTAAAACAACAAGCATTCGCTATCTCAGTTTCTGTGGGCCAGAATGACGGTGGGAATGGTACCATCCAGCAGGAACTCCTAACTCCAGTGGGTGGGCGGATCCCGGAGTGGCAGCACTTATTCACCAAAGATAAGGCAGACGTGCCATCCATGGGATGGTACAGCCAAAGCAGGGATCACGACAGTCTCCCTGGCAGGATCCTTCGTGCTGGCTAGTTGATCATAGTGATCTTAGAACTGAAATAGGCAGGCAGCCTTCTGAAGGCCTAAGCAGAAGGGCTCCAGGCCAGTGTACAGAAGCCTGATTTGAATCTCGAAAGATTCATGGCTCCTTGGTCAATCCCCAGATTCCCAGACTCGAGCCAGTGCTCAGCCCAGAGCCCCCCTGAATGAAAGCGAGCCAGGTTCCCTTAAGGAAGGGCCCTGCTACATGACCGAAATCAAAGAAACACTGGAAGGATACAAAAGAAACCCACAAAAGGGGCTACCTAGGGGCATAGGAGCTGGGGTGGGGTGGGATCGTGCTTCTAAGTCTGGGGGGAAAAATGCTGAGTCCTGCCTTCTCAGGAAGGGTGGTGTATTTTGACACACATTGTTTGGGCCCTGGGATCGCATTGGGACGATGGAACTCTGGTAATTGATATCAGCTTTCCCCATCCTTGATCAGCTCCAGGGCAATGAGGGTGATGGGGGAGAGACTTCTCAAAGTGTTATGTTTTTTTTTTTTGAGACGGAGTCTCACTTGGTGCCCCAGGCTAGAGTGCAGTAGCACAACCTTGGCTCACTTGCAACCCCTGCCTCCCAGGTTCAAGCAATTCTCCAGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCGCAAGTCATCCACCCACCTTGGCCTCCCAAAGTGCTGACATTACACGTGTGAGCCACTGCGCCCAGCCTCAAAGTGTTATCTTTTAAATAACCTTTTGGTTTTTCAACCATGTAAATCCATCACCTTTTTATGACATTAATTTTTTTAAACATTTTTTAAAAGGGTCAGCAACATGGCTATGAGCCCACGGCCTTGGTGAGTTACAGGGCTGCCGTGTACAGTTGGGCAGGTCGTGCACTGCTGAAGGGAATACAAGTACCTTTTTCCAACTGGCACAGAGGCACATGGTGGCTAGTGAAGGCTCCGTC
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AGCCCGACCCACCCCTGCTCCTGTCAGAGCTCAGCCAGGGCCTCGCCTCCCTCCTTGGTGGGCCCAGCACCCTCTCCCTGACTCCTGTGTCCAGGGTGATGCCAAGATGATGGAGATCCTGCGCTACACGCACCAGTTCCTGCAGAAGTTCTGTGCAGGGAACCCCGGCAACCAGGCCCTGCTGCACAAACACCTGCACCTCTTCCTCACGCCAGGGGTGAGGGTGCAGGGCTGGGAGCACCTGGACGAGGCGGGGGATGGGGGGTGGGGGCGGGGCCCAGATCTCTTTCTGACAGATGCCCCCCACTGCAGCTCCTGGAGGCAGAGACCATGCAGCACATCTTCCTGAACAACTATCAGCTCTGCTCCGAGATCAGCGAGCCTGTGTTGCAGCACTTCGTGCACCTGCTGGCCACGCACGGGCGCCATGTGCAGTACCTGGACTTCCTGCACACCGTCATTAAGGCCGAGGGCAAGTACGTCAAGAAGTGCCAGGACATGATCATGACTGAGGTGAGGGCGGGGCTGAGGGGTGCTCAGGCATCTTGGGGTGGGGGACCGGAGCAGAGGCTTGGCGGGAAGGCCACAGAGTTAGAGAAGTCAGACGGTGGGTCACAAAAGGAACACTCAGCTGCTGACCATGGAGGGGACGCAGAGGGAGAAGTGAGGCTGCAGATGTGGTAGAACTCAGCCTGTGGGCCTGATAGAACTCAAGCAGGGTCCCAGTAGCATCAGGCACCTAGCAGAACTCAGACAACAGGCCAGAAAGAAATCAAGCATGCATTCCTTGTCACTTGTCGTCGTTTATTTAAAATCAGGAAGCACCTGCTACGTGCCACGGACTGTACATGCATGGGGGACATCAGCTGAGTGTCAGCTCCTGGGGGGCACGGGCAGGGACCCCATCCTTTGTGTGCATCGCCAGGGCCCCAGTGTGTGGCGCATAGTAGGTTCTCAACAGACACCTGTTGAGTGAAGGCACGAAGGATACAGGGCTGAGTCTAAATCTGGAACAGACGTGGTCCCTGCCCCTGAGCATCTGACAGTGTAGGCGGCAGGGGGAGAAAGAAGCAAACACTGAAGGGAGATTAGGACATCATAAACAAGACATGATGTGCTGGAACTGCTGTACAGTGTTAGTTTTATTAATTTCTATTATTATATTACTGCGAATAATGCAGTCGCTGGCACGAGAGGTGTGTGCTCAGTGAGGAGGGTTTAAGTAACTGCTGCGGGAGCACAGGGGAGGGAGGGGGTGAGCAAGGCGGGATTAGCGAGGCTTCCTGGAGGAAGCTGCCTCTGAGATGACCCCTATGGGACTTCTTTCCAGTGGGGAGAAGCGGGGACTTTCTGGGTCATGGGGTCAATATCTCTGCTGGCAGAGGGCCTGAGACATCAGCTGGGGAACCCCCAAATCCCAGCCAGGGGAGGGTTTTCCTGATTTCAGGTAAGGGCTGTGGTCAGAGTCCCAGTTTCTCCCTGGTAAGCAACGGAGAGGAGAGCCCAGGGCTTGCTGGACCGAGAGAGTGTGACACGTGCCCCCTCCCACCCGCAGCTGACCAATGCAGGTGACGATGTGGTCGTGTTCTACAATGATAAGGCATCGCTGGCCCACCTGCTGGACATGATGAAGGCCGCCCGCGACGGCGTGGAGGACCACAGCCCCCTCATGTACCACATTTCCCTGGTGGACCTGCTGGCCGCCTGTGCCGAGGGCAAAAACGTCTACACTGAGATCAAGTGCACCTCCCTGCTGCCGCTGGAGGACGTGGTGTCTGTGGTGACGCATGAGGACTGCATCACTGAGGTGGGGATCGGGAGACTGGGCAAGACGGCTGGAGATGGGGCGAAGGGGTGGGTAAAGCCACGGGACAGGAAGAGTGGGTGAAGCAAAGCCAGGGAAGTGGGCAGGAACCGGAGGCCAGGGGACAGGAGCATTGTGGCAGGGAGAGCCTGGCCAGGCGGCCCTGCTTGCGCCCCTGACCTCCCGCCCACTGCCCAGGTGAAAATGGCCTATGTGAACTTCGTGAACCACTGCTACGTGGACATGGAGGTGGAGATGAAGGAGATCTACACCAGCAACCACATCTGGACGCTCTTTGAGAACTTCACCCTGGACATGGCCCGGGTCTGTCCCTGTGAGGGGTGTGGGTGAAGCCCCCCAGGAGGTGTGGGAGTGGAGGGGCCCCATGTGAGGAGCCCCCAGCCATCCCTCTCTCCTGCCTCAGGTCTGCAGCAAGCGTGAGAAGCGCGTGGCTGACCCCACCTTGGAGAAGTACGTGCTGAGCGTTGTGCTGGACACCATCAACGCCTTCTTCAGCTCCCCATTCTCTGAGAACAGCACTTCCCTGCAGGTGAGCTTCTCCTCTCCCACCACCCCAGGGCCGACTTGCCTAGCTTTTGTGAAGGGAAGGGGGGAAATAAGAATACATATTTATATTTGCTTATAGTACAGAAAGAAGTAACAAAAGGATACATAAGTGTATTGGTTATCTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTTACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCGCGCCCGGCCTAAGTATATTAGTTATCTATACCGTGTTAACAAATTATCCCCAAACCTAGCAGTTAAAACAACAAGCATTCGCTATCTCAGTTTCTGTGGGCCAGAATGACGGTGGGAATGGTACCATCCAGCAGGAACTCCTAACTCCAGTGGGTGGGCGGATCCCGGAGTGGCAGCACTTATTCACCAAAGATAAGGCAGACGTGCCATCCATGGGATGGTACAGCCAAAGCAGGGATCACGACAGTCTCCCTGGCAGGATCCTTCGTGCTGGCTAGTTGATCATAGTGATCTTAGAACTGAAATAGGCAGGCAGCCTTCTGAAGGCCTAAGCAGAAGGGCTCCAGGCCAGTGTACAGAAGCCTGATTTGAATCTCGAAAGATTCATGGCTCCTTGGTCAATCCCCAGATTCCCAGACTCGAGCCAGTGCTCAGCCCAGAGCCCCCCTGAATGAAAGCGAGCCAGGTTCCCTTAAGGAAGGGCCCTGCTACATGACCGAAATCAAAGAAACACTGGAAGGATACAAAAGAAACCCACAAAAGGGGCTACCTAGGGGCATAGGAGCTGGGGTGGGGTGGGATCGTGCTTCTAAGTCTGGGGGGAAAAATGCTGAGTCCTGCCTTCTCAGGAAGGGTGGTGTATTTTGACACACATTGTTTGGGCCCTGGGATCGCATTGGGACGATGGAACTCTGGTAATTGATATCAGCTTTCCCCATCCTTGATCAGCTCCAGGGCAATGAGGGTGATGGGGGAGAGACTTCTCAAAGTGTTATGTTTTTTTTTTTTGAGACGGAGTCTCACTTGGTGCCCCAGGCTAGAGTGCAGTAGCACAACCTTGGCTCACTTGCAACCCCTGCCTCCCAGGTTCAAGCAATTCTCCAGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCGCAAGTCATCCACCCACCTTGGCCTCCCAAAGTGCTGACATTACACGTGTGAGCCACTGCGCCCAGCCTCAAAGTGTTATCTTTTAAATAACCTTTTGGTTTTTCAACCATGTAAATCCATCACCTTTTTATGACATTAATTTTTTTAAACATTTTTTAAAAGGGTCAGCAACATGGCTATGAGCCCACGGCCTTGGTGAGTTACAGGGCTGCCGTGTACAGTTGGGCAGGTCGTGCACTGCTGAAGGGAATACAAGTACCTTTTTCCAACTGGCACAGAGGCACATGGTGGCTAGTGAAGGCTCCGTC
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Task1_train_10199
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The gene ITPR3 (inositol 1,4,5-trisphosphate receptor type 3) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; ITPR3-related disorder
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TCCCTGGAGGAGCCTTGGGAAACTGTCTGGAGCCCAGGCAGCCCTCAGGGTTCCAGTGGCAGCCCCAGTGAGAGTGGCCGGCCCAGCCCCTCAAGGTGCCATCCCTATCTCAACCCCATCCTGCAGCTCTTTGACCTCATCTACCGCGAGGAGACGCTGTTCAACGTCATCAAGAGTGTGACCCGCAATGGCCGCTCCATCCTGCTGACAGCCCTGCTGGCCCTCATCCTGGTCTACCTCTTCTCCATCGTCGGCTTCCTCTTCCTCAAGGATGACTTCATTCTCGAGGTCGACCGGCTGCCCAACAACCACTCCACAGGTCTTGGAGGCTTCCTCTCCTGGGCAGGTTGTGGGGAATGAGGTTGGGTCTCACAAATGTCTGGCGTCAGGACCAGGACCTGCAGCGCTTACCTCACCAGGCTCCCGTCTGCTTCTCCTCTTGGCTTCTGGGGACGTCTAGCTAACACCAGTCTGCCTCGCTCTTTTCTGGAACACACTGAGTGGGTGGGAGAGCCTTGGGTCTCTGGCCCCTAAGGAACCCCTTGCTTGAGGGCTGGAGTCCCTTGAACTGTCATTCATGTTAAACCCAGTATTTGCAGAAACTGCCCGTGTGCCAGGCCTAGGGGTACAGAGACCCCTCCCTGCCCTTAGTGTGCAACCCAGTCGGGGGCAGAAGCGTGATGACCCTTCACTGTGGCTGGACAGTGGAGGGCTGGCGATCCAGGACCAGGGAAGGTTTCCTGGAGGATGTGACACTGGGGACAGAGCCAGGGGATAAGGCCAGGCACTGGACCTCCTGATGATCTCATCCATATCCCCTCCAGCCAGCCCCCTGGGGATGCCACATGGAGCTGCTGCATTTGTGGACACCTGCAGTGGGGACAAGATGGACTGTGTCTCAGGGCTCTCGGTGCCTGAGGTCCTGGAAGGTGAGGGTGGTGTGTGTGCAGGAGTCTGTGTGGGGTAGGAGGAGCAGGCAGCCCGGGCCTCAGCACACTCTCCGCTTGCAGAGGACAGGGAGCTGGACAGCACAGAGCGGGCCTGTGACACTCTGTTGATGTGCATCGTCACTGTCATGAACCATGGGCTACGCAACGGTGGTGGCGTGGGCGACATTCTCCGCAAGCCCTCCAAAGATGTGAGCACTCCTGCCCACTCCCAAACCTGTGGGGCCCAAGCCACTGTCCAGATCAGCAACTGTGGAGAGTCCTGTCCTTGGCCTCGCGTCAGATATTCAGGGTTGAACCCCCTCCCCCGAACTTGTATCCACTTTTCCCTGCTTTCCACACCTGGCCAATTCCATGATATTACTGCTTAGCTGCCCCCTCACCCTCCCATTCCATAAGGAAAGACTTTGGCAACCAAACTTTGCCCCAGGGCTAGGGATGGTGACCACTGGCTTTCCTAGCCCACAGCAGGTGGGCAGAGGGCGGAGCTGAGTCAGCTTTATCAGGAGGCCTCATGATTTGGCTTGGGCAGCCACATTCCCGAATGTCAGGCCTTCCCCTGTTGCTTGGGAGTGAGAGGCCGCCTCCCTGGCCAGACAGAGGGTTTCTGGAATGTGTGAGGCCAGGCGTCCTGAGGGTGGGCAGAGGTGTTCAGAGCTGCCTCTTTCCCTCATCAATGTTAGGGGCAGAGACACACCGAGACTCGTAGCCCTACCTCCCCGCCAGACTCCTTCTGCAGGCCTCCACCCCGGCGTGTCCTGAGTCCACGCTTTCCTAACCCAAACTCAGGGCTTCTGCTTGCAATTCTTGCTCTGTGGAGCCAGGTTGGGTCCACTCTGCCATCTGATGGCCCCCAGGCCAGAGGCCCTCATTTCCTTCTGCTAGGGGCTGGGTCCTCAATATCACAGCCCTGGCCCCAACCTGAGTCCTATCTTGCCCCAGTGAATGTGGGGACCACCGGGCCCAGCCTCCCTGCCTCATCCCCTGCAGGAGTCTCTCTTCCCAGCCCGAGTGGTCTATGACCTCCTGTTCTTCTTCATCGTCATCATCATTGTGCTGAACCTCATCTTTGGGGTAATCATCGACACCTTCGCTGACCTGCGTAGTGAGAAGCAGAAGAAGGAGGAGATTCTTAAGACGACATGCTTCATCTGTGGTGAGGGCTGCTTCCTGCTCTGTGGAGGCCGCAGCGGGGCTGGAACGTCATCTGATGCCAGTGGCAGTAGCGGTTTGGCCCTTCCTGCCCTGGGGAACCCTGGCCCGGAGCTGATGACTTGATGCATTTGCTCATCCCAGAACTGGGGAGAACATGACCCTGCCTGAACTTGGAGTCAGAAAGGAGTGGGACAGGCCCATCCCTGTAAACCCTTGGGGTTTCTAGGTGAGGACATGAGCCCAGTCAGTGTCTGGAGCTTCTGGTCTCAGTCCAGTGCTTTTCCTACCCCTGAAATGAAGTGCTAGTCCCCTCACCAGCCACCTCGGGCTCAGGCAGGTGTCACCTGTATGGCCTGTAGGACCTCGCTCATTCAGCCATTCGGGCTTCCCCTGAGTTCGAGAAATTCTCGCGTTTACTCCTGGAGTCCTCGGTTGCTGCTGCGGGAGGGCTGCAGCTGCGGCAGGGCAGGATCTCCACTAAGTGGCTGCTGCTTTAAATAGAAGTGACCCAAATAGCCCAGAGCGAGCTGTTGGAAGCGCTCATCCCGAGAACAAATGCCTCCAACCCCCGGAAGCTGGGTCCCCTCCAGCAGGTGACCCTGCAGTGGCTCTTGAAGGCTGATGGTTTCATTCCCGCCCTCTGCACCCTCAGGTCTGGAGAGGGACAAGTTTGATAACAAGACAGTGTCATTTGAGGAACACATCAAGCTGGAGCACAACATGTGGAACTACTTGTACTTCATTGTGCTGGTCCGCGTGAAGAACAAGACCGACTACACGGGCCCTGAGAGCTACGTGGCCCAGATGATCAAGGTGTGAGCAGGGGCTGTGCCAGGCCTGTGGGCCCAAACCAGCCATTCTAGAGTCATCACTGTGCACCAGAGGCCTCATGGTTTTAGCTTCTGAGTACCCTGGGCCCTGGAGAGGAGTGGCCCTATCTGACTGTTGGCCCTAGGAGGCCAGGCAGAGGGGCTCGGACAGCTGCAGACACTTGTTGAAAGGTCAGCAGGGCGAGGAGCAGCAGCTGGAAGCAGCTCTGGGCTGCACGGAAGCCGCTGCTGCAGAGGGGCCTCCTCACACTTCTGGGTGTCAGGAAAAATCCCACAGCAAACCCATGCGCCCCGAAGAACACGTGTGGTATCCCTGGGCCTGTCGTGCAGTGATGCTGAGGAGGGGTGGAGTTGGGGAGACCCTGCCCGTGGCCAGTGATCTGTGGGCCGCTCTCAGGGAGTGTTTTCTAGCTCGGTGGGAAGGCAGGCTGCTTCCTAAAAAGTCTGAATTAGATGATCCTGGGCTGAAGGGGAGCCTGGAAAAACTTTAAAAATCACTTACAGAAATCAAATGTCATCTGTCCAATTTCTGTAATAATGGAGTGAAGGCAATGAATCATAAAGAAGGAATTATTTATCGTTTAGTCTGTATTTCAAACTGATCTTTGTGTACAGGTTTATCTGTTGGTCTGAGAATTCACAGCTTACTACAAGGAAGCTGAGAATTGCTTGGTGCCCCCTCCCCCCCCGACTCCTCTGTCCTGGGAAACGTGGCTTTGCCTCCCAGACACGTGTCAGATGCCAGCTCTCCTCAGCGGAGCCTCCTGATCCCTCAATTTGCCATCTGTCTGACTCGCGTCTTCCCGGGGCGTGGGGCGTGCTTGTCAGGCAGGCGGGCGGGAGGAAGGAAGGAAGGAGATCCAGGGTCTGTCTGGGTGCAGAGGCCTTCCTCCACCTCTCAGGGGGTGTTATGAGAGTAAACAGATGGTGCTGATACCAGCAAAGGACTCAAACTCAGCTGCCGACGCTGCCTAACGGAAGTCAGCCTGTCTCGGTGGCAGAGGGTTGACAAGAGGGTTGACTGCCAGCTCACTCTGGCCCCGGGGAGGACCAGGTCAATTCAGATTTTCCCATGACACATCCCTGACGAGTAGTTTTGTTAAGGGTGTGGCAGAAGCCTCCCCCCACATTACTGTTTTTCTAAATGAGGCCTTTCTAGGCCGG
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TCCCTGGAGGAGCCTTGGGAAACTGTCTGGAGCCCAGGCAGCCCTCAGGGTTCCAGTGGCAGCCCCAGTGAGAGTGGCCGGCCCAGCCCCTCAAGGTGCCATCCCTATCTCAACCCCATCCTGCAGCTCTTTGACCTCATCTACCGCGAGGAGACGCTGTTCAACGTCATCAAGAGTGTGACCCGCAATGGCCGCTCCATCCTGCTGACAGCCCTGCTGGCCCTCATCCTGGTCTACCTCTTCTCCATCGTCGGCTTCCTCTTCCTCAAGGATGACTTCATTCTCGAGGTCGACCGGCTGCCCAACAACCACTCCACAGGTCTTGGAGGCTTCCTCTCCTGGGCAGGTTGTGGGGAATGAGGTTGGGTCTCACAAATGTCTGGCGTCAGGACCAGGACCTGCAGCGCTTACCTCACCAGGCTCCCGTCTGCTTCTCCTCTTGGCTTCTGGGGACGTCTAGCTAACACCAGTCTGCCTCGCTCTTTTCTGGAACACACTGAGTGGGTGGGAGAGCCTTGGGTCTCTGGCCCCTAAGGAACCCCTTGCTTGAGGGCTGGAGTCCCTTGAACTGTCATTCATGTTAAACCCAGTATTTGCAGAAACTGCCCGTGTGCCAGGCCTAGGGGTACAGAGACCCCTCCCTGCCCTTAGTGTGCAACCCAGTCGGGGGCAGAAGCGTGATGACCCTTCACTGTGGCTGGACAGTGGAGGGCTGGCGATCCAGGACCAGGGAAGGTTTCCTGGAGGATGTGACACTGGGGACAGAGCCAGGGGATAAGGCCAGGCACTGGACCTCCTGATGATCTCATCCATATCCCCTCCAGCCAGCCCCCTGGGGATGCCACATGGAGCTGCTGCATTTGTGGACACCTGCAGTGGGGACAAGATGGACTGTGTCTCAGGGCTCTCGGTGCCTGAGGTCCTGGAAGGTGAGGGTGGTGTGTGTGCAGGAGTCTGTGTGGGGTAGGAGGAGCAGGCAGCCCGGGCCTCAGCACACTCTCCGCTTGCAGAGGACAGGGAGCTGGACAGCACAGAGCGGGCCTGTGACACTCTGTTGATGTGCATCGTCACTGTCATGAACCATGGGCTACGCAACGGTGGTGGCGTGGGCGACATTCTCCGCAAGCCCTCCAAAGATGTGAGCACTCCTGCCCACTCCCAAACCTGTGGGGCCCAAGCCACTGTCCAGATCAGCAACTGTGGAGAGTCCTGTCCTTGGCCTCGCGTCAGATATTCAGGGTTGAACCCCCTCCCCCGAACTTGTATCCACTTTTCCCTGCTTTCCACACCTGGCCAATTCCATGATATTACTGCTTAGCTGCCCCCTCACCCTCCCATTCCATAAGGAAAGACTTTGGCAACCAAACTTTGCCCCAGGGCTAGGGATGGTGACCACTGGCTTTCCTAGCCCACAGCAGGTGGGCAGAGGGCGGAGCTGAGTCAGCTTTATCAGGAGGCCTCATGATTTGGCTTGGGCAGCCACATTCCCGAATGTCAGGCCTTCCCCTGTTGCTTGGGAGTGAGAGGCCGCCTCCCTGGCCAGACAGAGGGTTTCTGGAATGTGTGAGGCCAGGCGTCCTGAGGGTGGGCAGAGGTGTTCAGAGCTGCCTCTTTCCCTCATCAATGTTAGGGGCAGAGACACACCGAGACTCGTAGCCCTACCTCCCCGCCAGACTCCTTCTGCAGGCCTCCACCCCGGCGTGTCCTGAGTCCACGCTTTCCTAACCCAAACTCAGGGCTTCTGCTTGCAATTCTTGCTCTGTGGAGCCAGGTTGGGTCCACTCTGCCATCTGATGGCCCCCAGGCCAGAGGCCCTCATTTCCTTCTGCTAGGGGCTGGGTCCTCAATATCACAGCCCTGGCCCCAACCTGAGTCCTATCTTGCCCCAGTGAATGTGGGGACCACCGGGCCCAGCCTCCCTGCCTCATCCCCTGCAGGAGTCTCTCTTCCCAGCCCGAGTGGTCTATGACCTCCTGTTCTTCTTCATCGTCATCATCATTGTGCTGAACCTCATCTTTGGGGTAATCATCGACACCTTCGCTGACCTGTGTAGTGAGAAGCAGAAGAAGGAGGAGATTCTTAAGACGACATGCTTCATCTGTGGTGAGGGCTGCTTCCTGCTCTGTGGAGGCCGCAGCGGGGCTGGAACGTCATCTGATGCCAGTGGCAGTAGCGGTTTGGCCCTTCCTGCCCTGGGGAACCCTGGCCCGGAGCTGATGACTTGATGCATTTGCTCATCCCAGAACTGGGGAGAACATGACCCTGCCTGAACTTGGAGTCAGAAAGGAGTGGGACAGGCCCATCCCTGTAAACCCTTGGGGTTTCTAGGTGAGGACATGAGCCCAGTCAGTGTCTGGAGCTTCTGGTCTCAGTCCAGTGCTTTTCCTACCCCTGAAATGAAGTGCTAGTCCCCTCACCAGCCACCTCGGGCTCAGGCAGGTGTCACCTGTATGGCCTGTAGGACCTCGCTCATTCAGCCATTCGGGCTTCCCCTGAGTTCGAGAAATTCTCGCGTTTACTCCTGGAGTCCTCGGTTGCTGCTGCGGGAGGGCTGCAGCTGCGGCAGGGCAGGATCTCCACTAAGTGGCTGCTGCTTTAAATAGAAGTGACCCAAATAGCCCAGAGCGAGCTGTTGGAAGCGCTCATCCCGAGAACAAATGCCTCCAACCCCCGGAAGCTGGGTCCCCTCCAGCAGGTGACCCTGCAGTGGCTCTTGAAGGCTGATGGTTTCATTCCCGCCCTCTGCACCCTCAGGTCTGGAGAGGGACAAGTTTGATAACAAGACAGTGTCATTTGAGGAACACATCAAGCTGGAGCACAACATGTGGAACTACTTGTACTTCATTGTGCTGGTCCGCGTGAAGAACAAGACCGACTACACGGGCCCTGAGAGCTACGTGGCCCAGATGATCAAGGTGTGAGCAGGGGCTGTGCCAGGCCTGTGGGCCCAAACCAGCCATTCTAGAGTCATCACTGTGCACCAGAGGCCTCATGGTTTTAGCTTCTGAGTACCCTGGGCCCTGGAGAGGAGTGGCCCTATCTGACTGTTGGCCCTAGGAGGCCAGGCAGAGGGGCTCGGACAGCTGCAGACACTTGTTGAAAGGTCAGCAGGGCGAGGAGCAGCAGCTGGAAGCAGCTCTGGGCTGCACGGAAGCCGCTGCTGCAGAGGGGCCTCCTCACACTTCTGGGTGTCAGGAAAAATCCCACAGCAAACCCATGCGCCCCGAAGAACACGTGTGGTATCCCTGGGCCTGTCGTGCAGTGATGCTGAGGAGGGGTGGAGTTGGGGAGACCCTGCCCGTGGCCAGTGATCTGTGGGCCGCTCTCAGGGAGTGTTTTCTAGCTCGGTGGGAAGGCAGGCTGCTTCCTAAAAAGTCTGAATTAGATGATCCTGGGCTGAAGGGGAGCCTGGAAAAACTTTAAAAATCACTTACAGAAATCAAATGTCATCTGTCCAATTTCTGTAATAATGGAGTGAAGGCAATGAATCATAAAGAAGGAATTATTTATCGTTTAGTCTGTATTTCAAACTGATCTTTGTGTACAGGTTTATCTGTTGGTCTGAGAATTCACAGCTTACTACAAGGAAGCTGAGAATTGCTTGGTGCCCCCTCCCCCCCCGACTCCTCTGTCCTGGGAAACGTGGCTTTGCCTCCCAGACACGTGTCAGATGCCAGCTCTCCTCAGCGGAGCCTCCTGATCCCTCAATTTGCCATCTGTCTGACTCGCGTCTTCCCGGGGCGTGGGGCGTGCTTGTCAGGCAGGCGGGCGGGAGGAAGGAAGGAAGGAGATCCAGGGTCTGTCTGGGTGCAGAGGCCTTCCTCCACCTCTCAGGGGGTGTTATGAGAGTAAACAGATGGTGCTGATACCAGCAAAGGACTCAAACTCAGCTGCCGACGCTGCCTAACGGAAGTCAGCCTGTCTCGGTGGCAGAGGGTTGACAAGAGGGTTGACTGCCAGCTCACTCTGGCCCCGGGGAGGACCAGGTCAATTCAGATTTTCCCATGACACATCCCTGACGAGTAGTTTTGTTAAGGGTGTGGCAGAAGCCTCCCCCCACATTACTGTTTTTCTAAATGAGGCCTTTCTAGGCCGG
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Subsets and Splits
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