Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
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_10900
Gene FAM20C (FAM20C golgi associated secretory pathway kinase) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Lethal osteosclerotic bone dysplasia
AGACGAATTTTAAGCCTCCAGCCAATGAGCGCTCAGATGAAGATTTTCCTCCTGAAATGGAGCTCCTGCCCCGGTGGGGGCTGCCTCGTCCGACTGTGGGCTGCCGACTAATCTGTATCAGCACGAGACAGGATTGCAGCTGGTCTTTCCTTGATCGTTCGTTCTTACAATAATGACCCAGCGTTGGCAGTGGGGTGAGGGGGCGCGGGAAGGAGGGGGCAGGCAGGTGATCGGGGCGTTGGAACCAGACCAGCCGGGACCTGCCGGGTGCGTGGGGTGTGGTGGGGGCCAGGTCGGCCTGGCACCCACCCCGTTTCCTCTCCGAACCTCAGCTTGTTCAGCTAAGAAAGGGCAGCCGGGACCGGCCACCCTCCTGTTCACTCCGCTGGGAAGCGCCCTGCCGAACCTGCCTTCTGATCCCACGGGGAGCCTGCCCTGCAGCCAGGAGAGACCCCTGGAATCACTCAGCCTGGCTGCATAGGAATGCTGGGACTGGGGGAGCTGTGAGTGAGGTTCGGGGCTCCGGCCCCAACAAAACCACGTTCTCACCAGTTCTACAGCCCCAGGCTTTCCAGAGTTTCTCCACAAACAAATAAAGCAAGAAAAACTAGATTTAATCAGCAAATAAATACAGGAATAGCGCCGTCGGCCGGGCCTCCAGCATCAGAGCAGTGAACCCGCACTGCTAGCGGGCCTGGACAGCGCTTGCATTTTTCTGATTATTCTTTCTTTATTAAGGTATAATTCATGTACCACAAAATTTACCATTTAAAAGCGTACAGTTCCGTGGTTTTTAGTATATCCACAATGGTGTGCAACCATCACCACTGTCTAAATCCAGAATGTCCTGCTGACCCCAAAAAGGAGCCCCGTACCATGAGCAGGCGGTCACCGTTCCTCACCCCGCAGCCCTCGACGAGCAGCGTCCCACCCCCAGTCTATCTGGATTTGCCTGTTCTGGGCGTTTCATATTAAGAGGGTCATACGACGTGTGGCCTCCTCTGTCTGGCCTCCTTCGCGGAGCACAGGGTTCTCGGGTTCAGTGAGGGCTTCATTCCTCTTCTTGTTTCATTTCGTTTCGTGTCATCGCACGGATGGACCATGTTCACCTGGCGTGTCCACTCCTCTCTTGATGGACATTTGGGTGGATTCTCTCTTTTTCGGCTGTGGTGAGCGGTGCTGCTGTGAGCATTCGTGTCTGAGTTTTTGTATAGAAATGTTTTCTCTTCTCTTAGGGGTTTACATGGGAGGGGAGTTCCTGGGTCACGTGGAAACACTGTGTTTAATCAGTTGGGGGCTGCAGACCGTTTCCGCCGTGGCTGTGCCGTGTGCACCCCCCGCCAGCAGCGCACAGAGGTGGCGGTTCCCCCGTCCCAGCCGGCAGCTGCTCTTTTGATGGAAGCCATCCCAGCAGACAGGAGATGGTGCCTCACCGTGGCTTTGATTTGCATCTCCCCGGTGACTCACGATGGCGCCCGTCTCTTCTCATGCTTGTCGGCCATCAGGGTCGTCTTTGGAGAATCAGCTGTTCAAGCCCTCTGCCCATTTATTAGTTTTTTTTGTCTTTTTGTGATTGAGTGATGAGAGTTCTTCATACACTCTAAATGCTAGATCCTCAGATGTGCGGTTTGCAAACGTTTTCTACCATTCTGTGGATTGTATCTTCACTTTCTTGACAATATGAATGCATTTTTTAAAAGACTAAATGTTGGCCCTAGGGTTTCCATAGACCAGCCCCTGATTTTCGAGGGTTCAGGCCGGGCTCTGCCTCTGGGGAGCTGTGTGGCCTCGGGACGTCAGCTCTGTGGGTTCATTTTTCTGTACCGTGGGGTGGAGGTGTTTGCTGGGATTGATGGGGAACTGTGGGTGAGTCCTGCCCATGAGAAGCACCAGGCAGAGCCCGGCCCGGCCTTGGGGGCCGTGAGACCACAGGTGAGGACGCAGCCCTGTGCGGCCCTGGTAACCCGCAGCCTGTCCCTCCCCAGCCAACAACATCTGCTTCTACGGCGAGTGTTCCTACTACTGCTCCACGGAGCACGCCCTGTGCGGGAAGCCAGACCAGATCGAGGGCTCGCTGGCGGCCTTCCTGCCCGACCTGTCCCTGGCCAAGAGGAAGACCTGGCGGAACCCTTGGCGGCGTTCCTACCACAAGCGCAAGAAGGCCGAGTGAGTGCGGGGCCGGGGGGCTGGCGTCCGGCCACCCTACGGCAGAGGGAGCTGGGCCTGGGCGGGCATGGGAGGGTCGGCGCCCACGGGGGTGGCAGAGATGGGTGCAGAGCCTGCTGTGCGATGCTGGCCTGTGTGAGATGACCGCTTCCTGATGAGACGGTGGCAGAGGGCGTCCTTACTCCAGTATTTCCATGTGCTTCCCTGACCCGGGCCGGCCTGCCCACCAGGTCCCTCGAATCGGGGCCTCTCAGCGTTTGAGCTCTGCTCTCGCCCCGTCCCTCTCCTCACTCCTGCGGGAGAAACGGCCCCTGTTCTTTCCGCCCCACGTTGTCCTCGTGAGTGTGTAGTCCAGGTCCTGTTTCCCCACAGAGACTCTGCAAAAAACACGGGGCCCAGAGGTGAAGGCAGCTCCAGGTGGGGTCACCCCGAGGCAGGGCAGAGCGGCTCCGTCCCCTCCCACACCCGTGCTCCCGCTAATGCAGCCTCAGCGCCGCAGCCCGGGCGGGTCCATCTGCAGACGCCAAGGTCCCTGCCGCAGTGTTTCTCTTCTGCTCCTCATGGCACGCGCCGGGCTCCCCAGAATCTGGCCTGGGCCCCCCGTCTCACGCTGGCTCCCCGCAGGTGGGAGGTGGACCCTGACTACTGCGAGGAGGTGAAGCAGACACCGCCCTACGACAGCAGCCACCGCATCCTGGACGTCATGGACATGACGATCTTCGACTTCCTCATGGGTACGTCCCGCAGGGGCACGGGGTCCCCGTGTCACTCGCCTTGCGTGGAGCGGATGCACGCAGGGCTCTGCAGGGCACACTCCGTGGCACGGCCCGGCTGCGGTCCTGTGGCCTGTGAAGGGGCCAGATTGCTTAGAGGTCACGCTGGCAGGAGGAGACGCCGCTCTGCAGAGCACAGAGGCCTCTGAGCTACGTGGCCCGGCTCCCCACGAGCTGTGACACTTTCTGCCTCTCTCCGCAGGAAACATGGACCGTCACCACTACGAGACTTTTGAGAAGTTTGGGAATGAAACGTTCATCATCCACTTAGACAATGGAAGAGGGTGAGCCTGTCCTCGCCCCTGCACACCCAGGGAAGGGCCGGCCACCTCCCAGCTACCTGCAGCCCACCTGAGACCCTGGGGACGGGGGGAGCAGACCCTCCAGTGGAGGGATGGGAATGTCGCAAAGGCCCATCTCAGAGCCAGATGCAGAGGGCGGCCCCAGGCCCCAACCAGGAGGGAGGGCCGCCCCGGGAGTGGGACCTCCGAGGCACAGGAATGCTGCAGACCAAGTCCCGGCAGAGCTGGTGTTACCTGGGAAACGGAGGCCAGGAGAGGCTGCTGGTAGGAAGAGCAGGACCGTGCAGAATAGATGGGCCTCTGCCTGCACGCGGTACCTGGAGCCAGCCAGCGGGGGATAGGCGGCCTCTGCGGCCGCTGCTGGCCTGCCACGGGGGGTCTTGGGCGGCGCTGTGAGACCCTGGTTACCAGGGAGGGTGACCCCTAATAAGCAAAGCATGGAGGCGAGTAACTCGGGCAGGAGGACGTCCATTCCCAGGCTCGGAGGCCTCAGAGAGATGGACTTTGGGCACTTCAATAGCTAAACTGTGGGCTGACGCTCCCTGGAGCCATCTCAACTCGGCTGCCCAGGACCCTTCCCCAGGCCAGAGGCCAGGACCCCACATACAGGGCTGGGGACAGGCGGGGTGGACCCACTGCCTGGGGTGCTGGAGATGGGCAGGGTGGACCCACTGCCCGGGGTGCTGGAGATGGGCTGGGTGGACCCACTGCCCGGGGTGCTGGAGATGGGCAGGGTGGACCCACTGCCTGGGGTGCTGGAGATGGGGCTGGGTGGACCCACTGCCCAGGATGCTGGAGATGGGCTGGGTGGACACACTGCCTGGGGTGCTGGAGATGCCCGGGGTGGACCCACTG
AGACGAATTTTAAGCCTCCAGCCAATGAGCGCTCAGATGAAGATTTTCCTCCTGAAATGGAGCTCCTGCCCCGGTGGGGGCTGCCTCGTCCGACTGTGGGCTGCCGACTAATCTGTATCAGCACGAGACAGGATTGCAGCTGGTCTTTCCTTGATCGTTCGTTCTTACAATAATGACCCAGCGTTGGCAGTGGGGTGAGGGGGCGCGGGAAGGAGGGGGCAGGCAGGTGATCGGGGCGTTGGAACCAGACCAGCCGGGACCTGCCGGGTGCGTGGGGTGTGGTGGGGGCCAGGTCGGCCTGGCACCCACCCCGTTTCCTCTCCGAACCTCAGCTTGTTCAGCTAAGAAAGGGCAGCCGGGACCGGCCACCCTCCTGTTCACTCCGCTGGGAAGCGCCCTGCCGAACCTGCCTTCTGATCCCACGGGGAGCCTGCCCTGCAGCCAGGAGAGACCCCTGGAATCACTCAGCCTGGCTGCATAGGAATGCTGGGACTGGGGGAGCTGTGAGTGAGGTTCGGGGCTCCGGCCCCAACAAAACCACGTTCTCACCAGTTCTACAGCCCCAGGCTTTCCAGAGTTTCTCCACAAACAAATAAAGCAAGAAAAACTAGATTTAATCAGCAAATAAATACAGGAATAGCGCCGTCGGCCGGGCCTCCAGCATCAGAGCAGTGAACCCGCACTGCTAGCGGGCCTGGACAGCGCTTGCATTTTTCTGATTATTCTTTCTTTATTAAGGTATAATTCATGTACCACAAAATTTACCATTTAAAAGCGTACAGTTCCGTGGTTTTTAGTATATCCACAATGGTGTGCAACCATCACCACTGTCTAAATCCAGAATGTCCTGCTGACCCCAAAAAGGAGCCCCGTACCATGAGCAGGCGGTCACCGTTCCTCACCCCGCAGCCCTCGACGAGCAGCGTCCCACCCCCAGTCTATCTGGATTTGCCTGTTCTGGGCGTTTCATATTAAGAGGGTCATACGACGTGTGGCCTCCTCTGTCTGGCCTCCTTCGCGGAGCACAGGGTTCTCGGGTTCAGTGAGGGCTTCATTCCTCTTCTTGTTTCATTTCGTTTCGTGTCATCGCACGGATGGACCATGTTCACCTGGCGTGTCCACTCCTCTCTTGATGGACATTTGGGTGGATTCTCTCTTTTTCGGCTGTGGTGAGCGGTGCTGCTGTGAGCATTCGTGTCTGAGTTTTTGTATAGAAATGTTTTCTCTTCTCTTAGGGGTTTACATGGGAGGGGAGTTCCTGGGTCACGTGGAAACACTGTGTTTAATCAGTTGGGGGCTGCAGACCGTTTCCGCCGTGGCTGTGCCGTGTGCACCCCCCGCCAGCAGCGCACAGAGGTGGCGGTTCCCCCGTCCCAGCCGGCAGCTGCTCTTTTGATGGAAGCCATCCCAGCAGACAGGAGATGGTGCCTCACCGTGGCTTTGATTTGCATCTCCCCGGTGACTCACGATGGCGCCCGTCTCTTCTCATGCTTGTCGGCCATCAGGGTCGTCTTTGGAGAATCAGCTGTTCAAGCCCTCTGCCCATTTATTAGTTTTTTTTGTCTTTTTGTGATTGAGTGATGAGAGTTCTTCATACACTCTAAATGCTAGATCCTCAGATGTGCGGTTTGCAAACGTTTTCTACCATTCTGTGGATTGTATCTTCACTTTCTTGACAATATGAATGCATTTTTTAAAAGACTAAATGTTGGCCCTAGGGTTTCCATAGACCAGCCCCTGATTTTCGAGGGTTCAGGCCGGGCTCTGCCTCTGGGGAGCTGTGTGGCCTCGGGACGTCAGCTCTGTGGGTTCATTTTTCTGTACCGTGGGGTGGAGGTGTTTGCTGGGATTGATGGGGAACTGTGGGTGAGTCCTGCCCATGAGAAGCACCAGGCAGAGCCCGGCCCGGCCTTGGGGGCCGTGAGACCACAGGTGAGGACGCAGCCCTGTGCGGCCCTGGTAACCCGCAGCCTGTCCCTCCCCAGCCAACAACATCTGCTTCTACGGCGAGTGTTCCTACTACTGCTCCACGGAGCACGCCCTGTGCGAGAAGCCAGACCAGATCGAGGGCTCGCTGGCGGCCTTCCTGCCCGACCTGTCCCTGGCCAAGAGGAAGACCTGGCGGAACCCTTGGCGGCGTTCCTACCACAAGCGCAAGAAGGCCGAGTGAGTGCGGGGCCGGGGGGCTGGCGTCCGGCCACCCTACGGCAGAGGGAGCTGGGCCTGGGCGGGCATGGGAGGGTCGGCGCCCACGGGGGTGGCAGAGATGGGTGCAGAGCCTGCTGTGCGATGCTGGCCTGTGTGAGATGACCGCTTCCTGATGAGACGGTGGCAGAGGGCGTCCTTACTCCAGTATTTCCATGTGCTTCCCTGACCCGGGCCGGCCTGCCCACCAGGTCCCTCGAATCGGGGCCTCTCAGCGTTTGAGCTCTGCTCTCGCCCCGTCCCTCTCCTCACTCCTGCGGGAGAAACGGCCCCTGTTCTTTCCGCCCCACGTTGTCCTCGTGAGTGTGTAGTCCAGGTCCTGTTTCCCCACAGAGACTCTGCAAAAAACACGGGGCCCAGAGGTGAAGGCAGCTCCAGGTGGGGTCACCCCGAGGCAGGGCAGAGCGGCTCCGTCCCCTCCCACACCCGTGCTCCCGCTAATGCAGCCTCAGCGCCGCAGCCCGGGCGGGTCCATCTGCAGACGCCAAGGTCCCTGCCGCAGTGTTTCTCTTCTGCTCCTCATGGCACGCGCCGGGCTCCCCAGAATCTGGCCTGGGCCCCCCGTCTCACGCTGGCTCCCCGCAGGTGGGAGGTGGACCCTGACTACTGCGAGGAGGTGAAGCAGACACCGCCCTACGACAGCAGCCACCGCATCCTGGACGTCATGGACATGACGATCTTCGACTTCCTCATGGGTACGTCCCGCAGGGGCACGGGGTCCCCGTGTCACTCGCCTTGCGTGGAGCGGATGCACGCAGGGCTCTGCAGGGCACACTCCGTGGCACGGCCCGGCTGCGGTCCTGTGGCCTGTGAAGGGGCCAGATTGCTTAGAGGTCACGCTGGCAGGAGGAGACGCCGCTCTGCAGAGCACAGAGGCCTCTGAGCTACGTGGCCCGGCTCCCCACGAGCTGTGACACTTTCTGCCTCTCTCCGCAGGAAACATGGACCGTCACCACTACGAGACTTTTGAGAAGTTTGGGAATGAAACGTTCATCATCCACTTAGACAATGGAAGAGGGTGAGCCTGTCCTCGCCCCTGCACACCCAGGGAAGGGCCGGCCACCTCCCAGCTACCTGCAGCCCACCTGAGACCCTGGGGACGGGGGGAGCAGACCCTCCAGTGGAGGGATGGGAATGTCGCAAAGGCCCATCTCAGAGCCAGATGCAGAGGGCGGCCCCAGGCCCCAACCAGGAGGGAGGGCCGCCCCGGGAGTGGGACCTCCGAGGCACAGGAATGCTGCAGACCAAGTCCCGGCAGAGCTGGTGTTACCTGGGAAACGGAGGCCAGGAGAGGCTGCTGGTAGGAAGAGCAGGACCGTGCAGAATAGATGGGCCTCTGCCTGCACGCGGTACCTGGAGCCAGCCAGCGGGGGATAGGCGGCCTCTGCGGCCGCTGCTGGCCTGCCACGGGGGGTCTTGGGCGGCGCTGTGAGACCCTGGTTACCAGGGAGGGTGACCCCTAATAAGCAAAGCATGGAGGCGAGTAACTCGGGCAGGAGGACGTCCATTCCCAGGCTCGGAGGCCTCAGAGAGATGGACTTTGGGCACTTCAATAGCTAAACTGTGGGCTGACGCTCCCTGGAGCCATCTCAACTCGGCTGCCCAGGACCCTTCCCCAGGCCAGAGGCCAGGACCCCACATACAGGGCTGGGGACAGGCGGGGTGGACCCACTGCCTGGGGTGCTGGAGATGGGCAGGGTGGACCCACTGCCCGGGGTGCTGGAGATGGGCTGGGTGGACCCACTGCCCGGGGTGCTGGAGATGGGCAGGGTGGACCCACTGCCTGGGGTGCTGGAGATGGGGCTGGGTGGACCCACTGCCCAGGATGCTGGAGATGGGCTGGGTGGACACACTGCCTGGGGTGCTGGAGATGCCCGGGGTGGACCCACTG
Task1_train_10901
This sequence change occurs on Chromosome 7, altering FAM20C (FAM20C golgi associated secretory pathway kinase). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Lethal osteosclerotic bone dysplasia
AGCGCTCAGATGAAGATTTTCCTCCTGAAATGGAGCTCCTGCCCCGGTGGGGGCTGCCTCGTCCGACTGTGGGCTGCCGACTAATCTGTATCAGCACGAGACAGGATTGCAGCTGGTCTTTCCTTGATCGTTCGTTCTTACAATAATGACCCAGCGTTGGCAGTGGGGTGAGGGGGCGCGGGAAGGAGGGGGCAGGCAGGTGATCGGGGCGTTGGAACCAGACCAGCCGGGACCTGCCGGGTGCGTGGGGTGTGGTGGGGGCCAGGTCGGCCTGGCACCCACCCCGTTTCCTCTCCGAACCTCAGCTTGTTCAGCTAAGAAAGGGCAGCCGGGACCGGCCACCCTCCTGTTCACTCCGCTGGGAAGCGCCCTGCCGAACCTGCCTTCTGATCCCACGGGGAGCCTGCCCTGCAGCCAGGAGAGACCCCTGGAATCACTCAGCCTGGCTGCATAGGAATGCTGGGACTGGGGGAGCTGTGAGTGAGGTTCGGGGCTCCGGCCCCAACAAAACCACGTTCTCACCAGTTCTACAGCCCCAGGCTTTCCAGAGTTTCTCCACAAACAAATAAAGCAAGAAAAACTAGATTTAATCAGCAAATAAATACAGGAATAGCGCCGTCGGCCGGGCCTCCAGCATCAGAGCAGTGAACCCGCACTGCTAGCGGGCCTGGACAGCGCTTGCATTTTTCTGATTATTCTTTCTTTATTAAGGTATAATTCATGTACCACAAAATTTACCATTTAAAAGCGTACAGTTCCGTGGTTTTTAGTATATCCACAATGGTGTGCAACCATCACCACTGTCTAAATCCAGAATGTCCTGCTGACCCCAAAAAGGAGCCCCGTACCATGAGCAGGCGGTCACCGTTCCTCACCCCGCAGCCCTCGACGAGCAGCGTCCCACCCCCAGTCTATCTGGATTTGCCTGTTCTGGGCGTTTCATATTAAGAGGGTCATACGACGTGTGGCCTCCTCTGTCTGGCCTCCTTCGCGGAGCACAGGGTTCTCGGGTTCAGTGAGGGCTTCATTCCTCTTCTTGTTTCATTTCGTTTCGTGTCATCGCACGGATGGACCATGTTCACCTGGCGTGTCCACTCCTCTCTTGATGGACATTTGGGTGGATTCTCTCTTTTTCGGCTGTGGTGAGCGGTGCTGCTGTGAGCATTCGTGTCTGAGTTTTTGTATAGAAATGTTTTCTCTTCTCTTAGGGGTTTACATGGGAGGGGAGTTCCTGGGTCACGTGGAAACACTGTGTTTAATCAGTTGGGGGCTGCAGACCGTTTCCGCCGTGGCTGTGCCGTGTGCACCCCCCGCCAGCAGCGCACAGAGGTGGCGGTTCCCCCGTCCCAGCCGGCAGCTGCTCTTTTGATGGAAGCCATCCCAGCAGACAGGAGATGGTGCCTCACCGTGGCTTTGATTTGCATCTCCCCGGTGACTCACGATGGCGCCCGTCTCTTCTCATGCTTGTCGGCCATCAGGGTCGTCTTTGGAGAATCAGCTGTTCAAGCCCTCTGCCCATTTATTAGTTTTTTTTGTCTTTTTGTGATTGAGTGATGAGAGTTCTTCATACACTCTAAATGCTAGATCCTCAGATGTGCGGTTTGCAAACGTTTTCTACCATTCTGTGGATTGTATCTTCACTTTCTTGACAATATGAATGCATTTTTTAAAAGACTAAATGTTGGCCCTAGGGTTTCCATAGACCAGCCCCTGATTTTCGAGGGTTCAGGCCGGGCTCTGCCTCTGGGGAGCTGTGTGGCCTCGGGACGTCAGCTCTGTGGGTTCATTTTTCTGTACCGTGGGGTGGAGGTGTTTGCTGGGATTGATGGGGAACTGTGGGTGAGTCCTGCCCATGAGAAGCACCAGGCAGAGCCCGGCCCGGCCTTGGGGGCCGTGAGACCACAGGTGAGGACGCAGCCCTGTGCGGCCCTGGTAACCCGCAGCCTGTCCCTCCCCAGCCAACAACATCTGCTTCTACGGCGAGTGTTCCTACTACTGCTCCACGGAGCACGCCCTGTGCGGGAAGCCAGACCAGATCGAGGGCTCGCTGGCGGCCTTCCTGCCCGACCTGTCCCTGGCCAAGAGGAAGACCTGGCGGAACCCTTGGCGGCGTTCCTACCACAAGCGCAAGAAGGCCGAGTGAGTGCGGGGCCGGGGGGCTGGCGTCCGGCCACCCTACGGCAGAGGGAGCTGGGCCTGGGCGGGCATGGGAGGGTCGGCGCCCACGGGGGTGGCAGAGATGGGTGCAGAGCCTGCTGTGCGATGCTGGCCTGTGTGAGATGACCGCTTCCTGATGAGACGGTGGCAGAGGGCGTCCTTACTCCAGTATTTCCATGTGCTTCCCTGACCCGGGCCGGCCTGCCCACCAGGTCCCTCGAATCGGGGCCTCTCAGCGTTTGAGCTCTGCTCTCGCCCCGTCCCTCTCCTCACTCCTGCGGGAGAAACGGCCCCTGTTCTTTCCGCCCCACGTTGTCCTCGTGAGTGTGTAGTCCAGGTCCTGTTTCCCCACAGAGACTCTGCAAAAAACACGGGGCCCAGAGGTGAAGGCAGCTCCAGGTGGGGTCACCCCGAGGCAGGGCAGAGCGGCTCCGTCCCCTCCCACACCCGTGCTCCCGCTAATGCAGCCTCAGCGCCGCAGCCCGGGCGGGTCCATCTGCAGACGCCAAGGTCCCTGCCGCAGTGTTTCTCTTCTGCTCCTCATGGCACGCGCCGGGCTCCCCAGAATCTGGCCTGGGCCCCCCGTCTCACGCTGGCTCCCCGCAGGTGGGAGGTGGACCCTGACTACTGCGAGGAGGTGAAGCAGACACCGCCCTACGACAGCAGCCACCGCATCCTGGACGTCATGGACATGACGATCTTCGACTTCCTCATGGGTACGTCCCGCAGGGGCACGGGGTCCCCGTGTCACTCGCCTTGCGTGGAGCGGATGCACGCAGGGCTCTGCAGGGCACACTCCGTGGCACGGCCCGGCTGCGGTCCTGTGGCCTGTGAAGGGGCCAGATTGCTTAGAGGTCACGCTGGCAGGAGGAGACGCCGCTCTGCAGAGCACAGAGGCCTCTGAGCTACGTGGCCCGGCTCCCCACGAGCTGTGACACTTTCTGCCTCTCTCCGCAGGAAACATGGACCGTCACCACTACGAGACTTTTGAGAAGTTTGGGAATGAAACGTTCATCATCCACTTAGACAATGGAAGAGGGTGAGCCTGTCCTCGCCCCTGCACACCCAGGGAAGGGCCGGCCACCTCCCAGCTACCTGCAGCCCACCTGAGACCCTGGGGACGGGGGGAGCAGACCCTCCAGTGGAGGGATGGGAATGTCGCAAAGGCCCATCTCAGAGCCAGATGCAGAGGGCGGCCCCAGGCCCCAACCAGGAGGGAGGGCCGCCCCGGGAGTGGGACCTCCGAGGCACAGGAATGCTGCAGACCAAGTCCCGGCAGAGCTGGTGTTACCTGGGAAACGGAGGCCAGGAGAGGCTGCTGGTAGGAAGAGCAGGACCGTGCAGAATAGATGGGCCTCTGCCTGCACGCGGTACCTGGAGCCAGCCAGCGGGGGATAGGCGGCCTCTGCGGCCGCTGCTGGCCTGCCACGGGGGGTCTTGGGCGGCGCTGTGAGACCCTGGTTACCAGGGAGGGTGACCCCTAATAAGCAAAGCATGGAGGCGAGTAACTCGGGCAGGAGGACGTCCATTCCCAGGCTCGGAGGCCTCAGAGAGATGGACTTTGGGCACTTCAATAGCTAAACTGTGGGCTGACGCTCCCTGGAGCCATCTCAACTCGGCTGCCCAGGACCCTTCCCCAGGCCAGAGGCCAGGACCCCACATACAGGGCTGGGGACAGGCGGGGTGGACCCACTGCCTGGGGTGCTGGAGATGGGCAGGGTGGACCCACTGCCCGGGGTGCTGGAGATGGGCTGGGTGGACCCACTGCCCGGGGTGCTGGAGATGGGCAGGGTGGACCCACTGCCTGGGGTGCTGGAGATGGGGCTGGGTGGACCCACTGCCCAGGATGCTGGAGATGGGCTGGGTGGACACACTGCCTGGGGTGCTGGAGATGCCCGGGGTGGACCCACTGCCTGAGGTGCTGGAGATAGGCAGTGTG
AGCGCTCAGATGAAGATTTTCCTCCTGAAATGGAGCTCCTGCCCCGGTGGGGGCTGCCTCGTCCGACTGTGGGCTGCCGACTAATCTGTATCAGCACGAGACAGGATTGCAGCTGGTCTTTCCTTGATCGTTCGTTCTTACAATAATGACCCAGCGTTGGCAGTGGGGTGAGGGGGCGCGGGAAGGAGGGGGCAGGCAGGTGATCGGGGCGTTGGAACCAGACCAGCCGGGACCTGCCGGGTGCGTGGGGTGTGGTGGGGGCCAGGTCGGCCTGGCACCCACCCCGTTTCCTCTCCGAACCTCAGCTTGTTCAGCTAAGAAAGGGCAGCCGGGACCGGCCACCCTCCTGTTCACTCCGCTGGGAAGCGCCCTGCCGAACCTGCCTTCTGATCCCACGGGGAGCCTGCCCTGCAGCCAGGAGAGACCCCTGGAATCACTCAGCCTGGCTGCATAGGAATGCTGGGACTGGGGGAGCTGTGAGTGAGGTTCGGGGCTCCGGCCCCAACAAAACCACGTTCTCACCAGTTCTACAGCCCCAGGCTTTCCAGAGTTTCTCCACAAACAAATAAAGCAAGAAAAACTAGATTTAATCAGCAAATAAATACAGGAATAGCGCCGTCGGCCGGGCCTCCAGCATCAGAGCAGTGAACCCGCACTGCTAGCGGGCCTGGACAGCGCTTGCATTTTTCTGATTATTCTTTCTTTATTAAGGTATAATTCATGTACCACAAAATTTACCATTTAAAAGCGTACAGTTCCGTGGTTTTTAGTATATCCACAATGGTGTGCAACCATCACCACTGTCTAAATCCAGAATGTCCTGCTGACCCCAAAAAGGAGCCCCGTACCATGAGCAGGCGGTCACCGTTCCTCACCCCGCAGCCCTCGACGAGCAGCGTCCCACCCCCAGTCTATCTGGATTTGCCTGTTCTGGGCGTTTCATATTAAGAGGGTCATACGACGTGTGGCCTCCTCTGTCTGGCCTCCTTCGCGGAGCACAGGGTTCTCGGGTTCAGTGAGGGCTTCATTCCTCTTCTTGTTTCATTTCGTTTCGTGTCATCGCACGGATGGACCATGTTCACCTGGCGTGTCCACTCCTCTCTTGATGGACATTTGGGTGGATTCTCTCTTTTTCGGCTGTGGTGAGCGGTGCTGCTGTGAGCATTCGTGTCTGAGTTTTTGTATAGAAATGTTTTCTCTTCTCTTAGGGGTTTACATGGGAGGGGAGTTCCTGGGTCACGTGGAAACACTGTGTTTAATCAGTTGGGGGCTGCAGACCGTTTCCGCCGTGGCTGTGCCGTGTGCACCCCCCGCCAGCAGCGCACAGAGGTGGCGGTTCCCCCGTCCCAGCCGGCAGCTGCTCTTTTGATGGAAGCCATCCCAGCAGACAGGAGATGGTGCCTCACCGTGGCTTTGATTTGCATCTCCCCGGTGACTCACGATGGCGCCCGTCTCTTCTCATGCTTGTCGGCCATCAGGGTCGTCTTTGGAGAATCAGCTGTTCAAGCCCTCTGCCCATTTATTAGTTTTTTTTGTCTTTTTGTGATTGAGTGATGAGAGTTCTTCATACACTCTAAATGCTAGATCCTCAGATGTGCGGTTTGCAAACGTTTTCTACCATTCTGTGGATTGTATCTTCACTTTCTTGACAATATGAATGCATTTTTTAAAAGACTAAATGTTGGCCCTAGGGTTTCCATAGACCAGCCCCTGATTTTCGAGGGTTCAGGCCGGGCTCTGCCTCTGGGGAGCTGTGTGGCCTCGGGACGTCAGCTCTGTGGGTTCATTTTTCTGTACCGTGGGGTGGAGGTGTTTGCTGGGATTGATGGGGAACTGTGGGTGAGTCCTGCCCATGAGAAGCACCAGGCAGAGCCCGGCCCGGCCTTGGGGGCCGTGAGACCACAGGTGAGGACGCAGCCCTGTGCGGCCCTGGTAACCCGCAGCCTGTCCCTCCCCAGCCAACAACATCTGCTTCTACGGCGAGTGTTCCTACTACTGCTCCACGGAGCACGCCCTGTGCGGGAAGCCAGACCAGATCGAGGGCTCGCGGGCGGCCTTCCTGCCCGACCTGTCCCTGGCCAAGAGGAAGACCTGGCGGAACCCTTGGCGGCGTTCCTACCACAAGCGCAAGAAGGCCGAGTGAGTGCGGGGCCGGGGGGCTGGCGTCCGGCCACCCTACGGCAGAGGGAGCTGGGCCTGGGCGGGCATGGGAGGGTCGGCGCCCACGGGGGTGGCAGAGATGGGTGCAGAGCCTGCTGTGCGATGCTGGCCTGTGTGAGATGACCGCTTCCTGATGAGACGGTGGCAGAGGGCGTCCTTACTCCAGTATTTCCATGTGCTTCCCTGACCCGGGCCGGCCTGCCCACCAGGTCCCTCGAATCGGGGCCTCTCAGCGTTTGAGCTCTGCTCTCGCCCCGTCCCTCTCCTCACTCCTGCGGGAGAAACGGCCCCTGTTCTTTCCGCCCCACGTTGTCCTCGTGAGTGTGTAGTCCAGGTCCTGTTTCCCCACAGAGACTCTGCAAAAAACACGGGGCCCAGAGGTGAAGGCAGCTCCAGGTGGGGTCACCCCGAGGCAGGGCAGAGCGGCTCCGTCCCCTCCCACACCCGTGCTCCCGCTAATGCAGCCTCAGCGCCGCAGCCCGGGCGGGTCCATCTGCAGACGCCAAGGTCCCTGCCGCAGTGTTTCTCTTCTGCTCCTCATGGCACGCGCCGGGCTCCCCAGAATCTGGCCTGGGCCCCCCGTCTCACGCTGGCTCCCCGCAGGTGGGAGGTGGACCCTGACTACTGCGAGGAGGTGAAGCAGACACCGCCCTACGACAGCAGCCACCGCATCCTGGACGTCATGGACATGACGATCTTCGACTTCCTCATGGGTACGTCCCGCAGGGGCACGGGGTCCCCGTGTCACTCGCCTTGCGTGGAGCGGATGCACGCAGGGCTCTGCAGGGCACACTCCGTGGCACGGCCCGGCTGCGGTCCTGTGGCCTGTGAAGGGGCCAGATTGCTTAGAGGTCACGCTGGCAGGAGGAGACGCCGCTCTGCAGAGCACAGAGGCCTCTGAGCTACGTGGCCCGGCTCCCCACGAGCTGTGACACTTTCTGCCTCTCTCCGCAGGAAACATGGACCGTCACCACTACGAGACTTTTGAGAAGTTTGGGAATGAAACGTTCATCATCCACTTAGACAATGGAAGAGGGTGAGCCTGTCCTCGCCCCTGCACACCCAGGGAAGGGCCGGCCACCTCCCAGCTACCTGCAGCCCACCTGAGACCCTGGGGACGGGGGGAGCAGACCCTCCAGTGGAGGGATGGGAATGTCGCAAAGGCCCATCTCAGAGCCAGATGCAGAGGGCGGCCCCAGGCCCCAACCAGGAGGGAGGGCCGCCCCGGGAGTGGGACCTCCGAGGCACAGGAATGCTGCAGACCAAGTCCCGGCAGAGCTGGTGTTACCTGGGAAACGGAGGCCAGGAGAGGCTGCTGGTAGGAAGAGCAGGACCGTGCAGAATAGATGGGCCTCTGCCTGCACGCGGTACCTGGAGCCAGCCAGCGGGGGATAGGCGGCCTCTGCGGCCGCTGCTGGCCTGCCACGGGGGGTCTTGGGCGGCGCTGTGAGACCCTGGTTACCAGGGAGGGTGACCCCTAATAAGCAAAGCATGGAGGCGAGTAACTCGGGCAGGAGGACGTCCATTCCCAGGCTCGGAGGCCTCAGAGAGATGGACTTTGGGCACTTCAATAGCTAAACTGTGGGCTGACGCTCCCTGGAGCCATCTCAACTCGGCTGCCCAGGACCCTTCCCCAGGCCAGAGGCCAGGACCCCACATACAGGGCTGGGGACAGGCGGGGTGGACCCACTGCCTGGGGTGCTGGAGATGGGCAGGGTGGACCCACTGCCCGGGGTGCTGGAGATGGGCTGGGTGGACCCACTGCCCGGGGTGCTGGAGATGGGCAGGGTGGACCCACTGCCTGGGGTGCTGGAGATGGGGCTGGGTGGACCCACTGCCCAGGATGCTGGAGATGGGCTGGGTGGACACACTGCCTGGGGTGCTGGAGATGCCCGGGGTGGACCCACTGCCTGAGGTGCTGGAGATAGGCAGTGTG
Task1_train_10902
Gene MICALL2 (MICAL like 2) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Joubert syndrome 1
GGTCCTCCCCAGCCACACATGCCCCCCGCCCCACCACCTAGGAAGCACTCCCTGGAGCACCCCCGCCACTCATCCTCAGTCCCTAGGATGCCCTGGACACCCCCCAGTGCCAGGAGGAGCAGAGCGAACTCGCTCTTCTCCTGTCTGTGACCACCCCGGAGGCTCTGAGCACCCCCTGCTGACCACTGCGGGGGCAGGAGGCAGTTCTGAGCAGGGGACGCCTGCACCCCACGATACGGGGCAGGAAACGGCGTTGTCAGCCAGGCTGCGACAAGCATTCTTACTCGCTAAGTGACTGTACTTGGTCGAATGGTGACCCCTAAAAGTCATGTCCACTGGGAAGCTCAGAGTGTGACCTTATCTGTAAACCATCTTGGCAGTTATGATCATGTTAAGATGCACTCACGCTGGGTTAGGGTGGACCCTAGTCCAACAACCATGTCCTTAGAAGAGACAGAAGAGGAGAAGACAGACAGAGAGAAGGCCACATGGAAACGGAGGCAGAGACTGGAGGGAGGCGACCACAAGCCAAGAACGCTCAGAGCCGCTGGGAGCTGGAAGAGACAAGGACAGGTCCACCCCTAGTGCCCTGCAAGGGGACGCGGCCCTTCCCCCGCCTCAAGGTCAGACTTCTGGCCTGCAGAGCTGTGAGGGGGTGGATTTCTACTGTGTAAGCCGCCCAGTGAGGGGGTCTTTGGAAACTGATGCAGCGCCCCCCTCTACCCGTCCACGTCATCTGCTCAGGGTCCAGGCACAGGCAGGCGCCGGGCCCAGGCATGGAAGGTCAGGGCCTGGCTGGACTCAGTCAGACAAGGTGATGCTCAGCCCAGCCAGCGTGGGTCCCGCTCGCGACCTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGACCTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGACCTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGACCTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGACCTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGGCCTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGACCTGTCCCCGCGTCCATGAAATGGGCGTAGGACCCTTGGGTTCCAAGGGAGTGCAGCACAGGGGGCCCCGGAGCGGCAGCGCCACCGCACCCATGACGCCCCGAGCACATGCGGACAGCAGCTTTTCCATAAGGACCCGGCTTCCACCACCCTGACCACAGGCACTGCCACCCTGGCTCCTCCTCCCCATTCCCCAGAGAAGGAAACAGGCTGGGGGAAGTGCAGTCCCCAAGGCCACACAGCCAGGGAGGTGCAGCGCCCCCAACCCCTCTGGCCTCCGGGGCCCCGCTGGCTGGTGCAAAGAGGCCATACCCGGGGTCCCTCGGTCCCCACGCGCTCACCTGCCAGGCGCCGGAGCGCCAGCCTCTTCCAGCGCTGAGAGGGCCTGCTTGAGGAAGTTCCGCGCCTGCTCCTTGCTGCTGTCCTTGGATAGAACAAGTGACGGGGTGGGACCTCTGCCAGAAAGGCTGGTGCCGGGGGGCACTGCTGATGTTTGGAAAAACTTATTCCGGGCCTGCTGGGTCCTGGAGGCGGACGGGGTCCAGGCTGGGGGGTCCACCGTGGCTGCAGATGTGGAGCTTGAACTGAGTGTGGTTTGAGGAGCTGCCACTCGGGGGGCTCCCCCACCCTGGGGTGTGGCCGGGCGAGGGTCTGGGGCACTCGGGGGCACGGCGGGATGGGAGGCAGCCGCTGCTGTGCACGGGGCAGCTGACGACCAGCCCATCGGGGAGCTATTGGTCACACGAGGGCGGACTTTCCCCTCCGTGGGAGTGGGGGCCAGGCGGCTCTCAGAGGGCCTGGCTGGGCTCCTCACGTGGACGGACGTGGCGCTGGTGGCTGCAGGGTTGGGTGCAGCTGGAACGGAAGCCCTGGCAGGCGAGTTGCCCGCAGCAGGCTCCCAGGCCGACGGTCTGGCCTTGTTTGCCTCCTGGGCCTTCTGTGGGGAACAGGAGGTCCTGGAATCCACACCCATGGCCCCTGGCTGTCGGGGGACCAGACCCGTCAACTTGGGGCTTGCAGAGGCGGCTGCGGGGAGGTGGCTGGTGCAGACGAAGGTGCCCGGCTCTCCTGTGGCCTTGTAGGCCCCCGAGTGCAGCGTGCAGGAGCACTGCTTACACCTGGGGGAGGAAAGGCACAGGAGCCCCAGCTCGGCACCGCCCACCCCGCCACGCATTCACCACGTGCTCCTGATAGCAGGCATTGCGGACTCCTGTGTCCACTTGCGAGGTTGCTGAACGCCCGCCCCGCCACGCATTCACCACGTGCTCCTGAGAGCAGGCATTGCGGACTCCTGTGTTCCACTCACGAGGTCGCTGATTCATTCAACAAACGCCTCTTCTCAGGGTCCTTAACCACTTACATCACAAACCCCACCAAAAACCTCGTTTGGGGTGCAAACCCCAGAGGGTGCTTGTGCAGGTCAGCAGACACACACCCACAGGCCACCCCAGGCCCCACCTCGGGGCTGACCCACCCTGGCCTCACAGCGTGGGGGATGGAACTGGGAGGACCGGCCCACCCCAGCCTTGCAGAGCTGGGGACAGAAGTAGGGGGAACAGCGCTTGTTTCCTAGGAGCCCCCACCCGGGGTGCAGGGTGGCAGCAAGGGGCTGGGGATGGCCACTGAGTACAACACCAGTGGGAAGGGCTGAGGCACAGAAGGGAGACTGAGGCAGTGTGTGTGGAAGGACAGTCGGGAGGGCATCTTGACGGGGGCACTGGAGGAGGCATCTGGACGGGGGCACTGGGGGACACTGGGGCTTAGTGAGGGGCATCAGGTCCTGGGTGTCTGGGAACAGTAGAACATCTTGGGCTATCAGCAACAGAGCGGGGGGTGGGGAAGAGGGTGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGAAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGACCATTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGGGAGGATAGAGAGGAGAAGGAAGGGAGGATGGGAAGGAAAGTGAAAGGGAGAAGAGGGAGAAGGGGAGGAGAGGGGAGGAGGCGGGAGGAGGGGAGACGGGGAGGGGGAGGGGGGAGGAGGGGAGAGGGGAGAGGGGAGAGGAACGAGGAGCGGGGAGGAGGAGGCCGGGTGGGAGGCGATGGGAGCTGTGGGAGGGTTCTGGGAGGGGAGGTGCACACTCAGGCGTGCGGGCAGAGGGCAGCCCCACCTGAAGCAGCTCCGGTGGTAAAGCCTCCCGTCGGCCAGGTGCCGCTGTACCAGGTGCACGTGCTTGCCGCAGACCCCGCAGGTGCTGCTGACCAAGCTGCCCGCCAATGCCTGGTCCTGGGGAAGATGCCAGCACCTCTCTGAGCAGCCGTCCACCCAGCCCTCCCTCCTGGTGGCAGCCCACAGGTGGCCGGAAGAGCCCATCTTACAGATGGAGAACTGGCCAGGAGAGGAGCCGCCAGCAGGGCTGCGGTCGGGGTCACACCCAGGTGGGTGGCAGCCCCAGTCCAGGGCCTCTAGCCCAGCCCTGGGGAGAGAGCTGAGGCCCGATGCTAGTGGTCCTTCGGTGGCTGGGGGCCAGGGGACAGATTCCAGGCCTCCTCCTGCCCCATTAGGGGCATGGATCCCATCCAATTCCCACCATCCCGGGAGCCTGGAGTGGCAGTCCAGGCATAGCAGGGGCTGCCAACCACCAGATATTTGCCCACCGCCTTCCACCCCAACTCCGCTTCTGAGAAGTGGGGGTGCCTGGGTTCACTCTGCAGAGCCGGCCTT
GGTCCTCCCCAGCCACACATGCCCCCCGCCCCACCACCTAGGAAGCACTCCCTGGAGCACCCCCGCCACTCATCCTCAGTCCCTAGGATGCCCTGGACACCCCCCAGTGCCAGGAGGAGCAGAGCGAACTCGCTCTTCTCCTGTCTGTGACCACCCCGGAGGCTCTGAGCACCCCCTGCTGACCACTGCGGGGGCAGGAGGCAGTTCTGAGCAGGGGACGCCTGCACCCCACGATACGGGGCAGGAAACGGCGTTGTCAGCCAGGCTGCGACAAGCATTCTTACTCGCTAAGTGACTGTACTTGGTCGAATGGTGACCCCTAAAAGTCATGTCCACTGGGAAGCTCAGAGTGTGACCTTATCTGTAAACCATCTTGGCAGTTATGATCATGTTAAGATGCACTCACGCTGGGTTAGGGTGGACCCTAGTCCAACAACCATGTCCTTAGAAGAGACAGAAGAGGAGAAGACAGACAGAGAGAAGGCCACATGGAAACGGAGGCAGAGACTGGAGGGAGGCGACCACAAGCCAAGAACGCTCAGAGCCGCTGGGAGCTGGAAGAGACAAGGACAGGTCCACCCCTAGTGCCCTGCAAGGGGACGCGGCCCTTCCCCCGCCTCAAGGTCAGACTTCTGGCCTGCAGAGCTGTGAGGGGGTGGATTTCTACTGTGTAAGCCGCCCAGTGAGGGGGTCTTTGGAAACTGATGCAGCGCCCCCCTCTACCCGTCCACGTCATCTGCTCAGGGTCCAGGCACAGGCAGGCGCCGGGCCCAGGCATGGAAGGTCAGGGCCTGGCTGGACTCAGTCAGACAAGGTGATGCTCAGCCCAGCCAGCGTGGGTCCCGCTCGCGACCTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGACCTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGACCTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGACCTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGACCTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGGCCTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGACCTGTCCCCGCGTCCATGAAATGGGCGTAGGACCCTTGGGTTCCAAGGGAGTGCAGCACAGGGGGCCCCGGAGCGGCAGCGCCACCGCACCCATGACGCCCCGAGCACATGCGGACAGCAGCTTTTCCATAAGGACCCGGCTTCCACCACCCTGACCACAGGCACTGCCACCCTGGCTCCTCCTCCCCATTCCCCAGAGAAGGAAACAGGCTGGGGGAAGTGCAGTCCCCAAGGCCACACAGCCAGGGAGGTGCAGCGCCCCCAACCCCTCTGGCCTCCGGGGCCCCGCTGGCTGGTGCAAAGAGGCCATACCCGGGGTCCCTCGGTCCCCACGCGCTCACCTGCCAGGCGCCGGAGCGCCAGCCTCTTCCAGCGCTGAGAGGGCCTGCTTGAGGAAGTTCCGCGCCTGCTCCTTGCTGCTGTCCTTGGATAGAACAAGTGACGGGGTGGGACCTCTGCCAGAAAGGCTGGTGCCGGGGGGCACTGCTGATGTTTGGAAAAACTTATTCCGGGCCTGCTGGGTCCTGGAGGCGGACGGGGTCCAGGCTGGGGGGTCCACCGTGGCTGCAGATGTGGAGCTTGAACTGAGTGTGGTTTGAGGAGCTGCCACTCGGGGGGCTCCCCCACCCTGGGGTGTGGCCGGGCGAGGGTCTGGGGCACTCGGGGGCACGGCGGGATGGGAGGCAGCCGCTGCTGTGCACGGGGCAGCTGACGACCAGCCCATCGGGGAGCTATTGGTCACACGAGGGCGGACTTTCCCCTCCGTGGGAGTGGGGGCCAGGCGGCTCTCAGAGGGCCTGGCTGGGCTCCTCACGTGGACGGACGTGGCGCTGGTGGCTGCAGGGTTGGGTGCAGCTGGAACGGAAGCCCTGGCAGGCGAGTTGCCCGCAGCAGGCTCCCAGGCCGACCGTCTGGCCTTGTTTGCCTCCTGGGCCTTCTGTGGGGAACAGGAGGTCCTGGAATCCACACCCATGGCCCCTGGCTGTCGGGGGACCAGACCCGTCAACTTGGGGCTTGCAGAGGCGGCTGCGGGGAGGTGGCTGGTGCAGACGAAGGTGCCCGGCTCTCCTGTGGCCTTGTAGGCCCCCGAGTGCAGCGTGCAGGAGCACTGCTTACACCTGGGGGAGGAAAGGCACAGGAGCCCCAGCTCGGCACCGCCCACCCCGCCACGCATTCACCACGTGCTCCTGATAGCAGGCATTGCGGACTCCTGTGTCCACTTGCGAGGTTGCTGAACGCCCGCCCCGCCACGCATTCACCACGTGCTCCTGAGAGCAGGCATTGCGGACTCCTGTGTTCCACTCACGAGGTCGCTGATTCATTCAACAAACGCCTCTTCTCAGGGTCCTTAACCACTTACATCACAAACCCCACCAAAAACCTCGTTTGGGGTGCAAACCCCAGAGGGTGCTTGTGCAGGTCAGCAGACACACACCCACAGGCCACCCCAGGCCCCACCTCGGGGCTGACCCACCCTGGCCTCACAGCGTGGGGGATGGAACTGGGAGGACCGGCCCACCCCAGCCTTGCAGAGCTGGGGACAGAAGTAGGGGGAACAGCGCTTGTTTCCTAGGAGCCCCCACCCGGGGTGCAGGGTGGCAGCAAGGGGCTGGGGATGGCCACTGAGTACAACACCAGTGGGAAGGGCTGAGGCACAGAAGGGAGACTGAGGCAGTGTGTGTGGAAGGACAGTCGGGAGGGCATCTTGACGGGGGCACTGGAGGAGGCATCTGGACGGGGGCACTGGGGGACACTGGGGCTTAGTGAGGGGCATCAGGTCCTGGGTGTCTGGGAACAGTAGAACATCTTGGGCTATCAGCAACAGAGCGGGGGGTGGGGAAGAGGGTGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGAAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGACCATTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGGGAGGATAGAGAGGAGAAGGAAGGGAGGATGGGAAGGAAAGTGAAAGGGAGAAGAGGGAGAAGGGGAGGAGAGGGGAGGAGGCGGGAGGAGGGGAGACGGGGAGGGGGAGGGGGGAGGAGGGGAGAGGGGAGAGGGGAGAGGAACGAGGAGCGGGGAGGAGGAGGCCGGGTGGGAGGCGATGGGAGCTGTGGGAGGGTTCTGGGAGGGGAGGTGCACACTCAGGCGTGCGGGCAGAGGGCAGCCCCACCTGAAGCAGCTCCGGTGGTAAAGCCTCCCGTCGGCCAGGTGCCGCTGTACCAGGTGCACGTGCTTGCCGCAGACCCCGCAGGTGCTGCTGACCAAGCTGCCCGCCAATGCCTGGTCCTGGGGAAGATGCCAGCACCTCTCTGAGCAGCCGTCCACCCAGCCCTCCCTCCTGGTGGCAGCCCACAGGTGGCCGGAAGAGCCCATCTTACAGATGGAGAACTGGCCAGGAGAGGAGCCGCCAGCAGGGCTGCGGTCGGGGTCACACCCAGGTGGGTGGCAGCCCCAGTCCAGGGCCTCTAGCCCAGCCCTGGGGAGAGAGCTGAGGCCCGATGCTAGTGGTCCTTCGGTGGCTGGGGGCCAGGGGACAGATTCCAGGCCTCCTCCTGCCCCATTAGGGGCATGGATCCCATCCAATTCCCACCATCCCGGGAGCCTGGAGTGGCAGTCCAGGCATAGCAGGGGCTGCCAACCACCAGATATTTGCCCACCGCCTTCCACCCCAACTCCGCTTCTGAGAAGTGGGGGTGCCTGGGTTCACTCTGCAGAGCCGGCCTT
Task1_train_10903
This alteration occurs within gene INTS1 (integrator complex subunit 1) located on Chromosome 7. Is it associated with a disease or is it a benign variant?
Pathogenic; Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
TCCGGCGGCACAGGAGAGACGTGCTGCGGTGCCGTGTCACCTCAGGCAGGGAAAAACCAAGGACAAGCCTTGCCCAGTAGGACCAGGGGAGGCTTCCTGGGGAGGGACACCTCGGACAAGCACTGGTGGATGGTGGATGTGCCAGGGACGGGGGGGTGGGGAGGGCCATTTGCCGGGGCGGGGCGATGTGCCGGGGGGCAGGTGTGCTGATGCTCTGTCAGGCACCAGTCAGTGCTTCGTCCCCTTGAGGTGGGTCAGGGGCCAGCCAGCAAGGTCCCAGGCTCACACAGCCCCCATCGGGACGCCTCGGACGGCCCAGGGCTGGCTGTGCGCTGGGAAAACCAGGCCCTGTAGGACTGTTCCGCAGCTGCTTCCAGCAGCCCCTGGCAGCCCCACTCACCCTCGCCCTCTTCGTCCAGGCCTCGGTCGGTCCTGTCGTCCCTGCTGGGCAGGCTGAGCCCTGCAAGGAGGGATTTCAGCATCACCAGGTCACTGTTGTCGAAGGACAGGTCGCTGGGGAGAGAAGATGCTTTCACCTGGGAGGAAGACGCTGGCAGGAGGAAGGCTGGGTCAGGGGTCAAACTAGGGTGGCATGGGAGCGTGTGGACACAGGCATGCAGGAGAGGCCAGGACGCTCAGAGGGAGGGCCGGGCGGGGAAGCCACATGTGCGTGGAACGGGACAGAGAGCCAGAGAGCTGCAGGGGTGGGTTCAGACGGCTTCGGCACAGGGTGGGGCGGCCTCTGCGCCCTGGGATGAGCACCACGCTCAGCAGCCCTCCCCGGCCTCAGGAGCAGCATATCTGACACGACACGGCCTTCCCAGGAACACCCTCCAGACCCCGCTGGACCCTCGCCGGAGGCCCGAGGCTTCCCTGCAGCCCGTGGGCACTCACTGGAGCGGGTCGGCGTGCTTCTGCAGGAAGGAGATGGCTGCTGGGGCATTGTAGGTAATGTACTTATGGATGAACTGCACAAACTTGTTGATGAAGGCAGCCAGATGGCGGGAGGACTTCCTGTAATTCTGCAAAGCAAAAGCGGCACCCTCGAGCTGCTCTGCCCCGCAGGGCCAAAACAGAGCCTGTGCTCCCATCTGCTCCCAGAGCCTCAGGGCATGGACCCCACAGCCAACGAGCCCCCTCTGCCAACCACTGGGGCGTCACAGGCCCAAGGGTGGCCGGCATGGCCTGTCAGGGTGTGGACATGGCTGTCTGGGGCATGTGCCCAGATGGATGAGGGGCTCGAGGTAGCACAAGCGACACGCAGAGAACAGCACGGAGGGTCTGGGCTGGGCTTCTGAAGGACGTGGGCCCCCCAGGCACGTGAGGGGCAGCAGGCAGGGGCTTCCCAGGGTGGGAGCTGGTCCCCAGGGCAGGTGGCCTGGCCTGGGCCCTGGCTGCAGAGGTCCTCCCAGTCCCTCCGCGAGTGGGTGAGGCAGGCCTGGGCCAGAGCAGAGGGAGTGGAAGGGAGCGCGAGGGCGGGCGGCGGGAGCACACACCAGCAGCAGGCGGATGAAGGACAGAAGGCAGTCCCACAGCGCCCCCTGGTGCTCGCTGCGGAACACGTGCGGCTGCAGCAGCTCCAGCAGGCCCAGCACGTGCAGGAAGCAGCTCAGGTGGTTCTGCTGCCGGAACTCCTGGAAGTTGAGGTGGGTGCGGCCGTGCAGGAGCGCCGCGATCATGGGCAGGTGCCTGCGGGCGCGGTGAGGGCCCAGTCAGCCCCGGCCGGCGGGCTCACCTGGCGCACGTCCCCAGGAAGGCCCCACTGCCTGCCCCGGGAGCCAGACCCCGTGCTGCCCCCCAACCACCCTCCTGCCCTAAGGAGGTGGGGATGAGATCGCCCCTCTCTGAGGCCCACCCAGCTCCTCCCACCTGAGGCCCAGCTCAGTCCTGACTTCCCCCGGTCAAGCTCAGCCCATGGGAACATGCTTTTTTTTGTTGTTTTTGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGAGCCGCAGACCCCCCTGGTTAAACCAGTGTCTGGCGAGGGCAGGGCTTCTGGGACAGCACCTGAGCAGCAGCAGCGGGTGCGCCACCGCCAGCTTCCGGCAGGCCATGCTGGCATCCGCCCCTCGGTTCTCCAACGCCCGGGAGTCGCTGGTGTCCGCAAGGAGCGTGATGAAGCGGTGGATGAGTCCGTCCAGCTGCAGGGAGGGGCGCTCTGAGGCCGGGGCCGCTGGCTCCCCTCACTTGCCCACCCACACTCAGCCTGGCCGCCAGCTGTGGCCGTGATCCACCGCGTGGCACGCCATGAGCAGAGGAACTGGCTCCTTACGGCTTCCATGAGCACCTCGGGAGGGCAGGCAGGCCACAGCCAGCCTCTGGGAAAACCCCATACAGAATAAAAGCAAAGCTCCACACCAAATGATACAATGAGCGGGAAACAAGCCAAAACTACACATCGGCCAAGCAGGCGCAGTGGCTCACGCCTGCCATCCCAGCACTCTGTGAGGCCGCGGCAGAAGATCACCAGAGCCCAGGAGTTCAAGACTAGCCTGGGCAATGAAAATAGCCCTCTCTATTTTCAAAAATACAAAAAGAGTAACTGGGTGTGGTGGCACGTGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGTGGGAGGCTCACTTGAGCACAGGGGGTTGAGGCTGCAGTGAGCTATGATGGTACCGCTGCACTCCAGCCTTGGCAACAGACACCCTGCCTCAAAAACCCTCCACAAAACTGCACATCAAGTGTGATTTCAACAAATAAAATGACATATAAGTGAAAAAAACCACAAGCAGAAATGATTAGAGAAAGTCAGCTGCCCTCTGTGGTACCAGCAGAAGACAGGCTGCAGGTTCCGGCCTGCGGTGGGGAAGCGGGTACGGGAGGCCCAGCTCTCCCCACCAGGGTCACTGGAGAGGAGCAGACGCAGCCGTCCGCCAAGACCCGGGCACGAGTCCCCAGCAGCTGTCACTGCCCCAAACTGAACGTGACCCCACGTCCACCAGCAGGTGAACAGATAAACCAACGGCCGATCCACACAATGGCAGGCCACCCAGTGCCCACAACACCACGACTCTCCAGACTGTGCGAGCAGAGCACCCGCAAGCTCCCTCGGTATAAAACTCAACGCAGACAAACCCACAGGGCCACAGGGCGGCGCGGACTGGGAAGGGGCAAGAGGGGTAGCCGGCGATGGCCATGTACACTGTGGCCTCCGCCCTCCCTCCCTGCCCGGCCAGGGCACCTGGGACGGCGGCGGGGAGCGGCAGAGTTGCGCCCTCACCTTGCAGACGCTGCTGCTGGCAGCCCCTTCGCTGTGCAGTAGGACCTCAGGCACGGGCACCCGCAGCTCCGGCCGCTGTAGGTAGAGCTGCAGGAGAAGGTCTCGGCAGCGCCTGCCCAGCACGCTGGAAGAGGTGGAGCAGGGCTCACCAGGCGGACGGGGCCCCAGTGACAGGGGTGGGTGGACGGGACCAGGCGTGATGGGAACCCACCCAGGGCTGGGCCTCGACCCCCTCCATGGCTCACTCCCAGGCAGCATCTGGGGCCGGGGGGCCTGAGCACCTGTCTCCCCACTGCTGGATGCAGCCTGACAGGTGCTCCGTCACCTTCCTGACACTCTCATCGTCCCCACAGCAGCAGCTGAGCAGCAGGGGCAGCCGGGCCTGGATGAGGCTGCAGGCGGCTGTGTCCCCGTCCTGGCTCCGCGTCTCCGCCTCGGCCAGGATCAGCTCCACCAGGCTGATGAGCTCCGGGCCCTGGACCCGCAGCACCAGCTCCTCCCGCCGCTTCTGTAACGGGTGCCTGCATCAGCCCCGGAGCACCACCGCCTCTCCCGGATGGGCCACCCCCTCTCCCGGATGGGCCACCCCCTCTCCCGGATGGGCCACCCTCCCAAGACCTGCCTGCGGGGTGCGCTGGTCCCGCCCCTGCCAGATGCGAGGAACATGGATGCAGGCCCAGAGGAAGTCCAGAGAGGCAGAGGGGTCGAACCTGTGGGGAGGCAAAGGTTCCAGAGCACGAGGTGTCTCGTCTCAGCATGGGAGATACCAGTCAGAGCCGGCGCTGGGAGATTTCTGGTGAAGGCCAGTATGCGCGCAGCC
TCCGGCGGCACAGGAGAGACGTGCTGCGGTGCCGTGTCACCTCAGGCAGGGAAAAACCAAGGACAAGCCTTGCCCAGTAGGACCAGGGGAGGCTTCCTGGGGAGGGACACCTCGGACAAGCACTGGTGGATGGTGGATGTGCCAGGGACGGGGGGGTGGGGAGGGCCATTTGCCGGGGCGGGGCGATGTGCCGGGGGGCAGGTGTGCTGATGCTCTGTCAGGCACCAGTCAGTGCTTCGTCCCCTTGAGGTGGGTCAGGGGCCAGCCAGCAAGGTCCCAGGCTCACACAGCCCCCATCGGGACGCCTCGGACGGCCCAGGGCTGGCTGTGCGCTGGGAAAACCAGGCCCTGTAGGACTGTTCCGCAGCTGCTTCCAGCAGCCCCTGGCAGCCCCACTCACCCTCGCCCTCTTCGTCCAGGCCTCGGTCGGTCCTGTCGTCCCTGCTGGGCAGGCTGAGCCCTGCAAGGAGGGATTTCAGCATCACCAGGTCACTGTTGTCGAAGGACAGGTCGCTGGGGAGAGAAGATGCTTTCACCTGGGAGGAAGACGCTGGCAGGAGGAAGGCTGGGTCAGGGGTCAAACTAGGGTGGCATGGGAGCGTGTGGACACAGGCATGCAGGAGAGGCCAGGACGCTCAGAGGGAGGGCCGGGCGGGGAAGCCACATGTGCGTGGAACGGGACAGAGAGCCAGAGAGCTGCAGGGGTGGGTTCAGACGGCTTCGGCACAGGGTGGGGCGGCCTCTGCGCCCTGGGATGAGCACCACGCTCAGCAGCCCTCCCCGGCCTCAGGAGCAGCATATCTGACACGACACGGCCTTCCCAGGAACACCCTCCAGACCCCGCTGGACCCTCGCCGGAGGCCCGAGGCTTCCCTGCAGCCCGTGGGCACTCACTGGAGCGGGTCGGCGTGCTTCTGCAGGAAGGAGATGGCTGCTGGGGCATTGTAGGTAATGTACTTATGGATGAACTGCACAAACTTGTTGATGAAGGCAGCCAGATGGCGGGAGGACTTCCTGTAATTCTGCAAAGCAAAAGCGGCACCCTCGAGCTGCTCTGCCCCGCAGGGCCAAAACAGAGCCTGTGCTCCCATCTGCTCCCAGAGCCTCAGGGCATGGACCCCACAGCCAACGAGCCCCCTCTGCCAACCACTGGGGCGTCACAGGCCCAAGGGTGGCCGGCATGGCCTGTCAGGGTGTGGACATGGCTGTCTGGGGCATGTGCCCAGATGGATGAGGGGCTCGAGGTAGCACAAGCGACACGCAGAGAACAGCACGGAGGGTCTGGGCTGGGCTTCTGAAGGACGTGGGCCCCCCAGGCACGTGAGGGGCAGCAGGCAGGGGCTTCCCAGGGTGGGAGCTGGTCCCCAGGGCAGGTGGCCTGGCCTGGGCCCTGGCTGCAGAGGTCCTCCCAGTCCCTCCGCGAGTGGGTGAGGCAGGCCTGGGCCAGAGCAGAGGGAGTGGAAGGGAGCGCGAGGGCGGGCGGCGGGAGCACACACCAGCAGCAGGCGGATGAAGGACAGAAGGCAGTCCCACAGCGCCCCCTGGTGCTCGCTGCGGAACACGTGCGGCTGCAGCAGCTCCAGCAGGCCCAGCACGTGCAGGAAGCAGCTCAGGTGGTTCTGCTGCCGGAACTCCTGGAAGTTGAGGTGGGTGCGGCCGTGCAGGAGCGCCGCGATCATGGGCAGGTGCCTGCGGGCGCGGTGAGGGCCCAGTCAGCCCCGGCCGGCGGGCTCACCTGGCGCACGTCCCCAGGAAGGCCCCACTGCCTGCCCCGGGAGCCAGACCCCGTGCTGCCCCCCAACCACCCTCCTGCCCTAAGGAGGTGGGGATGAGATCGCCCCTCTCTGAGGCCCACCCAGCTCCTCCCACCTGAGGCCCAGCTCAGTCCTGACTTCCCCCGGTCAAGCTCAGCCCATGGGAACATGCTTTTTTTTGTTGTTTTTGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGAGCCGCAGACCCCCCTGGTTAAACCAGTGTCTGGCGAGGGCAGGGCTTCTGGGACAGCACCTGAGCAGCAGCAGCAGGTGCGCCACCGCCAGCTTCCGGCAGGCCATGCTGGCATCCGCCCCTCGGTTCTCCAACGCCCGGGAGTCGCTGGTGTCCGCAAGGAGCGTGATGAAGCGGTGGATGAGTCCGTCCAGCTGCAGGGAGGGGCGCTCTGAGGCCGGGGCCGCTGGCTCCCCTCACTTGCCCACCCACACTCAGCCTGGCCGCCAGCTGTGGCCGTGATCCACCGCGTGGCACGCCATGAGCAGAGGAACTGGCTCCTTACGGCTTCCATGAGCACCTCGGGAGGGCAGGCAGGCCACAGCCAGCCTCTGGGAAAACCCCATACAGAATAAAAGCAAAGCTCCACACCAAATGATACAATGAGCGGGAAACAAGCCAAAACTACACATCGGCCAAGCAGGCGCAGTGGCTCACGCCTGCCATCCCAGCACTCTGTGAGGCCGCGGCAGAAGATCACCAGAGCCCAGGAGTTCAAGACTAGCCTGGGCAATGAAAATAGCCCTCTCTATTTTCAAAAATACAAAAAGAGTAACTGGGTGTGGTGGCACGTGCCTGTGATCCCAGCTACTCGGGAGGCTGAGGTGGGAGGCTCACTTGAGCACAGGGGGTTGAGGCTGCAGTGAGCTATGATGGTACCGCTGCACTCCAGCCTTGGCAACAGACACCCTGCCTCAAAAACCCTCCACAAAACTGCACATCAAGTGTGATTTCAACAAATAAAATGACATATAAGTGAAAAAAACCACAAGCAGAAATGATTAGAGAAAGTCAGCTGCCCTCTGTGGTACCAGCAGAAGACAGGCTGCAGGTTCCGGCCTGCGGTGGGGAAGCGGGTACGGGAGGCCCAGCTCTCCCCACCAGGGTCACTGGAGAGGAGCAGACGCAGCCGTCCGCCAAGACCCGGGCACGAGTCCCCAGCAGCTGTCACTGCCCCAAACTGAACGTGACCCCACGTCCACCAGCAGGTGAACAGATAAACCAACGGCCGATCCACACAATGGCAGGCCACCCAGTGCCCACAACACCACGACTCTCCAGACTGTGCGAGCAGAGCACCCGCAAGCTCCCTCGGTATAAAACTCAACGCAGACAAACCCACAGGGCCACAGGGCGGCGCGGACTGGGAAGGGGCAAGAGGGGTAGCCGGCGATGGCCATGTACACTGTGGCCTCCGCCCTCCCTCCCTGCCCGGCCAGGGCACCTGGGACGGCGGCGGGGAGCGGCAGAGTTGCGCCCTCACCTTGCAGACGCTGCTGCTGGCAGCCCCTTCGCTGTGCAGTAGGACCTCAGGCACGGGCACCCGCAGCTCCGGCCGCTGTAGGTAGAGCTGCAGGAGAAGGTCTCGGCAGCGCCTGCCCAGCACGCTGGAAGAGGTGGAGCAGGGCTCACCAGGCGGACGGGGCCCCAGTGACAGGGGTGGGTGGACGGGACCAGGCGTGATGGGAACCCACCCAGGGCTGGGCCTCGACCCCCTCCATGGCTCACTCCCAGGCAGCATCTGGGGCCGGGGGGCCTGAGCACCTGTCTCCCCACTGCTGGATGCAGCCTGACAGGTGCTCCGTCACCTTCCTGACACTCTCATCGTCCCCACAGCAGCAGCTGAGCAGCAGGGGCAGCCGGGCCTGGATGAGGCTGCAGGCGGCTGTGTCCCCGTCCTGGCTCCGCGTCTCCGCCTCGGCCAGGATCAGCTCCACCAGGCTGATGAGCTCCGGGCCCTGGACCCGCAGCACCAGCTCCTCCCGCCGCTTCTGTAACGGGTGCCTGCATCAGCCCCGGAGCACCACCGCCTCTCCCGGATGGGCCACCCCCTCTCCCGGATGGGCCACCCCCTCTCCCGGATGGGCCACCCTCCCAAGACCTGCCTGCGGGGTGCGCTGGTCCCGCCCCTGCCAGATGCGAGGAACATGGATGCAGGCCCAGAGGAAGTCCAGAGAGGCAGAGGGGTCGAACCTGTGGGGAGGCAAAGGTTCCAGAGCACGAGGTGTCTCGTCTCAGCATGGGAGATACCAGTCAGAGCCGGCGCTGGGAGATTTCTGGTGAAGGCCAGTATGCGCGCAGCC
Task1_train_10904
This sequence change occurs on Chromosome 7, altering INTS1 (integrator complex subunit 1). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
CTACAACCACCACACGGAGACTCTGCCACCCCACAGAGGCCTCTAGATGGTTCTTGCCCTCAAGGAGCTGGGGGCCAGGAGACAGAGATAACCCCTACACCTCCAAAGCCTGACCGGAAGGCCGCAGTGAAGGTGAACAGAGCGCCCAGGGCACGAGGTGGGGGCAGGGTGAACTGGCAGGAGCCCCAGGCGGGGCTGGAGGGGAGTGTAGACCAAGAACCCACGGGGTCACCCATGGGGCTTGAAGGGGGACAGAGCTGTGAGGCCAGCCGGCTGGGGAAGGACAGTGTGCGGCTGTCTGGACAGAAGCAGGGGCAGACGGTGCATCTGAGACTGCGTGAAGGGTGGCGTGCCCGTGGACGCCCTGGAAGCAACTGGAAGGCGGGGGTCCGGGGGAGGCTGCGGCTGGGGCTTGGAGTCACGTGGACGCAGACGGCAGCTGAATCCCTACAGTGGCGCTGGGACGCCAGCATGGGAGTGGGAGAAGGGTGGCACCCAGGATTGTGGAGGAGGAGCAGGATGGTGCTGTGACCATGGGAACAGCCGCCCAACTCCCACTGGCCCTTCCTGCCGCAGCCGGCCCGGCACCCCGCAGCCCCGCCCAGCCCGGCACACAGGAGCCCCAGGCGGCAGCGCACTCACTTGCGGTCACTCTCGGGTGGCCAGTTGTCCCACTTGTAGTAGGTCTCCGGCTGCTCTGTGAACAGCACCTTGTGCAGGCTGGGCAGGCAGAGAAGAGCCCTCAGTCATGATGTGGGTGCTCAGGGACCAGCCCCGTTAGTTCCAGGGAAGGGACCCCGCTCCCACGGGCCCCAGCGCTCAGAGGCCGGGCTGCCTGGTGCCCAAGCTCAGCACCTCCTCACAGCACCACCAAAGAACCCAGGGACCACTCACGGGGCTGCCAGGCTGCACAGCGGCCGAACGGGGCTGCCGGGCTGGACAGCCCTTTACAAAATCGCTGCAGAGAAATGCAGCCCCAGCCTGGCAGCCCCACCCCAACCAAGGCAGAGGCTCCACGGGAGGCTCCAATGCACAGGGTGACCTGCCTGGAGCCTAACGGCTGCTGCTGTCCGCAGAGAGGGGACAGACTCCCGTGTGGGGGCCTGGCTTGTCCCGGCTTAGTGGGGTGTGGGGCAGGGGCTGTGCGGGGCCTGGCTTGTCCTGGCTCAGTGGGGTTTGGGGCAGGGGTTGTGCGGGGCCCCGGCTTGTCCCGGCTCAGTGGGGTGTGGGACAGGGGCTGTACAGGGCCCCAGCCGCACCAGTGCACGTAGTCCTTAGGGGCGAGCTTGCTGATGGAGGGGACCACAGTGTGGAGCCACCAGACGGCATCCCGCTGGATGGCGGCAATCTGGTTCTGGAATGAGCGGAGCACTTCCAGGTCTGAAACAGACACGCAGCTTAGTGGCCCATCCGAGCCATGGGCCATGAGGGGCTAAGGCACCCCTGGGGGTCCAACTCAATGCTGGCACTTGGGAGGGGGTAACTCAGGGCACCCCCAGCTTCTGGACGATTCCCAGCTGGAATAACACCCTGGGAGGCATGGAGTGACCCTGACGCGTGCGTGGGTGACTGGAATCCTCCTGTTCCGAGTGACTCGCTCCGGTCAATGGCTTAGAGGGCTTCTGCGGCCCAGCCTTCCTGTGAACCCATAATCAAACACCCGGACTGCCCCAAACACCACCTCCCCTCCCCACTCCCGCCCGTGGCTGGGGCCACCACGCCTGCAATGCCCCCATGCTGGGCCAGAACTGGAGCACACAAAGGACGCTCATGGGAACAGGGTCTGAGCCTGCAGCTGGGGTGAGGCCCGGATGGACAGGAACGGGGACGGCAGCTTCCAGGCTCCGTGTCCCCGAGTAGCCGTGCTGCGGGACCGCTCCTGCCGGGCGCTCAGGGGACAGTGCAGCCTCGGAGAGCCGCCAGCCACCAGCCTGGACCCGAGACCCCCACCAAGCAGGGCCAGGCCACCCCCACATCCTTACTCCTCTTTTCTCCTTTGTCCCAGGCGATGCCGGCCTCCTTCACCTGCGCTGTGATGCCCAGCATCATGGACACGGCCAGGACGTCGGTGATGTGCACCACGAAGCGCTCCTGCAGGTGCAGCACGGGGTCTGTATCCAGAAGGGACACCCGGGAGCCCCACTCCACACCCACGTGGGCGCGGCACGGGGTCTGTATCCAGAAGGGACACCCGGGAGCCCCACTCCACACCCACGTGGGCGCGGCACGGGGTCTGTATCCAGAAGGGACACCCGGGAGCCCCACTCCACACCCACGTGGGCGCGGCACGGGGTCTGTATCCAGAAGGGACACCCGGGAGCCCCACTCCACAAACACGTGGGTGCAGCACGCACACACTTGCACATGCGCACACATACACACACACAAGCAGGGATCCAGAGAGAGAGCCCAGGACCAGTTGGGAGAGGGGCCTGACAGGAGGGGCACCAGGGCCGGTGGCCCACAAGGTCCTAGTCTGGCCACAGGAGGGAGGTTCAGTCAACAGAGATCCACAAAGCCCCGTCCGCAAAACAGGCCACCCCGGCAGGCTGGCTGCGAGTTGGCTGCAGGGACCTGGCATCTCTGTGATCCACCCTCACTGTGCCTTCCAGCGCCAGCTCCCTCCACAGCCCTCGAAAAGTCTCCAACCCAGCCAGGCAGCCCGCAGCCCCACCCTGCCTCCCTGCTCCCGTGCTCCCCTTGCTGCCGGCAGCAATTCATCCCATCCAGCCTAGGGGTTGCCAGTTCCCCTGTGCTTGGTCAGCCCCTCATAGGTCCTCACACAGGACAGAGCCTATGCTACCCTCTGGGACGCGTCACCGCAAACAGCCTCACTCATCCCCGTACCCACGCTCAGCCAGAGCATCCGAAGGGGTGGAGTGTGCATGGGACCCAGGACGAGGGGGATGGCGGCGCGTGGAACCCGCAGTGAGGGAAAGGCGCCCCAGCGGCGAGGGCTGGCACCTTGAACTCCATCTCCAGGTACTGCGGCTCCTTGCGCTCCTGCATGAGCCCCAGGCAGAAGGCCTGGAAGTTGATCTCGTGCTTGGTCTGCTTGATGATCTCCCGCAGCAGGGCCCGCGAGGCCCGCAGGTAGTCGTCCTTGTTGGTCAGCAGGTCCTGGAACACCATGGCCAGGAACTGGGGCAGAGAGAGGCCGCGTGGGAGGCTGCCCGACAGTGCTGTCCCTGTCACAGGCCCCTTCCCGCAGCACCAACAGGTATGGCGCCCGAGGGCGCTGCAGTGGGTCTCAGACAGTGTGGGGTGCGGGGTGGCGGGCTCCTTGCTCTACTGGCTGCCAGCCCTTGGCGAGCAGGGATCACATCTGATTCCCCTCTCTGAGAACCGGCAGGTGGGGAGTCGGTCCTCGTGAAATGAGGAGGATTAATTAACGGAAGCTGGGGGTGCGGGACACCAGGCGGCAAAGCCATAGAAGCGCGTGTGCCATCTCAGCCCACCCGTGCGCCACGGGCTGAACGGAAACCAAAGGCCACCACCCAAGATCTGAAAGGATCTGAAAGGACGCACTCCTGTCTCAAAATGCCAGGCCGCGAAGACTGAACGCGGAGCTGAGAGCGGCTGTGCCTCCCTCGTGTTTCACACTCCATAGAGCCCACCGGGAGGCCTAATGCGCTGGTGGCGATGGGAGCATCTCCCGAGCCCGCTTCAAAGGAGACACGGAAATCCAAGGGTCCTACAGCCAGGGCTACAGGGACCCCTGCTTAACCGAGGGACCCAATGCACAGGAGGCGGGTCTGGGCCAGGCACAGGGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGTTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCCACATAATAAGACCCGGTCTCCACAAAATTTTTAAAAACTACCTTACTATCCAAAGGCAGGAATGAGCTTGAAAAATAAAAACAGAAGGCAACAGGTCTGGGTCTTAGCTCAGAAACCTGGGTGGCTTTTAAGACTCAATGTGGCTCCCTCCTAAATGGACAGAGTGTCAGTTTCTGAGAAAGACGCTGGGCGCTGTGGCTGCACCCACTCTAGAAACGGCTCAACCTCATGCCCACGTGAGT
CTACAACCACCACACGGAGACTCTGCCACCCCACAGAGGCCTCTAGATGGTTCTTGCCCTCAAGGAGCTGGGGGCCAGGAGACAGAGATAACCCCTACACCTCCAAAGCCTGACCGGAAGGCCGCAGTGAAGGTGAACAGAGCGCCCAGGGCACGAGGTGGGGGCAGGGTGAACTGGCAGGAGCCCCAGGCGGGGCTGGAGGGGAGTGTAGACCAAGAACCCACGGGGTCACCCATGGGGCTTGAAGGGGGACAGAGCTGTGAGGCCAGCCGGCTGGGGAAGGACAGTGTGCGGCTGTCTGGACAGAAGCAGGGGCAGACGGTGCATCTGAGACTGCGTGAAGGGTGGCGTGCCCGTGGACGCCCTGGAAGCAACTGGAAGGCGGGGGTCCGGGGGAGGCTGCGGCTGGGGCTTGGAGTCACGTGGACGCAGACGGCAGCTGAATCCCTACAGTGGCGCTGGGACGCCAGCATGGGAGTGGGAGAAGGGTGGCACCCAGGATTGTGGAGGAGGAGCAGGATGGTGCTGTGACCATGGGAACAGCCGCCCAACTCCCACTGGCCCTTCCTGCCGCAGCCGGCCCGGCACCCCGCAGCCCCGCCCAGCCCGGCACACAGGAGCCCCAGGCGGCAGCGCACTCACTTGCGGTCACTCTCGGGTGGCCAGTTGTCCCACTTGTAGTAGGTCTCCGGCTGCTCTGTGAACAGCACCTTGTGCAGGCTGGGCAGGCAGAGAAGAGCCCTCAGTCATGATGTGGGTGCTCAGGGACCAGCCCCGTTAGTTCCAGGGAAGGGACCCCGCTCCCACGGGCCCCAGCGCTCAGAGGCCGGGCTGCCTGGTGCCCAAGCTCAGCACCTCCTCACAGCACCACCAAAGAACCCAGGGACCACTCACGGGGCTGCCAGGCTGCACAGCGGCCGAACGGGGCTGCCGGGCTGGACAGCCCTTTACAAAATCGCTGCAGAGAAATGCAGCCCCAGCCTGGCAGCCCCACCCCAACCAAGGCAGAGGCTCCACGGGAGGCTCCAATGCACAGGGTGACCTGCCTGGAGCCTAACGGCTGCTGCTGTCCGCAGAGAGGGGACAGACTCCCGTGTGGGGGCCTGGCTTGTCCCGGCTTAGTGGGGTGTGGGGCAGGGGCTGTGCGGGGCCTGGCTTGTCCTGGCTCAGTGGGGTTTGGGGCAGGGGTTGTGCGGGGCCCCGGCTTGTCCCGGCTCAGTGGGGTGTGGGACAGGGGCTGTACAGGGCCCCAGCCGCACCAGTGCACGTAGTCCTTAGGGGCGAGCTTGCTGATGGAGGGGACCACAGTGTGGAGCCACCAGACGGCATCCCGCTGGATGGCGGCAATCTGGTTCTGGAATGAGCGGAGCACTTCCAGGTCTGAAACAGACACGCAGCTTAGTGGCCCATCCGAGCCATGGGCCATGAGGGGCTAAGGCACCCCTGGGGGTCCAACTCAATGCTGGCACTTGGGAGGGGGTAACTCAGGGCACCCCCAGCTTCTGGACGATTCCCAGCTGGAATAACACCCTGGGAGGCATGGAGTGACCCTGACGCGTGCGTGGGTGACTGGAATCCTCCTGTTCCGAGTGACTCGCTCCGGTCAATGGCTTAGAGGGCTTCTGCGGCCCAGCCTTCCTGTGAACCCATAATCAAACACCCGGACTGCCCCAAACACCACCTCCCCTCCCCACTCCCGCCCGTGGCTGGGGCCACCACGCCTGCAATGCCCCCATGCTGGGCCAGAACTGGAGCACACAAAGGACGCTCATGGGAACAGGGTCTGAGCCTGCAGCTGGGGTGAGGCCCGGATGGACAGGAACGGGGACGGCAGCTTCCAGGCTCCGTGTCCCCGAGTAGCCGTGCTGCGGGACCGCTCCTGCCGGGCGCTCAGGGGACAGTGCAGCCTCGGAGAGCCGCCAGCCACCAGCCTGGACCCGAGACCCCCACCAAGCAGGGCCAGGCCACCCCCACATCCTTACTCCTCTTTTCTCCTTTGTCCCAGGCGATGCCGGCCTCCTTCACCTGCGCTGTGATGCCCAGCATCACGGACACGGCCAGGACGTCGGTGATGTGCACCACGAAGCGCTCCTGCAGGTGCAGCACGGGGTCTGTATCCAGAAGGGACACCCGGGAGCCCCACTCCACACCCACGTGGGCGCGGCACGGGGTCTGTATCCAGAAGGGACACCCGGGAGCCCCACTCCACACCCACGTGGGCGCGGCACGGGGTCTGTATCCAGAAGGGACACCCGGGAGCCCCACTCCACACCCACGTGGGCGCGGCACGGGGTCTGTATCCAGAAGGGACACCCGGGAGCCCCACTCCACAAACACGTGGGTGCAGCACGCACACACTTGCACATGCGCACACATACACACACACAAGCAGGGATCCAGAGAGAGAGCCCAGGACCAGTTGGGAGAGGGGCCTGACAGGAGGGGCACCAGGGCCGGTGGCCCACAAGGTCCTAGTCTGGCCACAGGAGGGAGGTTCAGTCAACAGAGATCCACAAAGCCCCGTCCGCAAAACAGGCCACCCCGGCAGGCTGGCTGCGAGTTGGCTGCAGGGACCTGGCATCTCTGTGATCCACCCTCACTGTGCCTTCCAGCGCCAGCTCCCTCCACAGCCCTCGAAAAGTCTCCAACCCAGCCAGGCAGCCCGCAGCCCCACCCTGCCTCCCTGCTCCCGTGCTCCCCTTGCTGCCGGCAGCAATTCATCCCATCCAGCCTAGGGGTTGCCAGTTCCCCTGTGCTTGGTCAGCCCCTCATAGGTCCTCACACAGGACAGAGCCTATGCTACCCTCTGGGACGCGTCACCGCAAACAGCCTCACTCATCCCCGTACCCACGCTCAGCCAGAGCATCCGAAGGGGTGGAGTGTGCATGGGACCCAGGACGAGGGGGATGGCGGCGCGTGGAACCCGCAGTGAGGGAAAGGCGCCCCAGCGGCGAGGGCTGGCACCTTGAACTCCATCTCCAGGTACTGCGGCTCCTTGCGCTCCTGCATGAGCCCCAGGCAGAAGGCCTGGAAGTTGATCTCGTGCTTGGTCTGCTTGATGATCTCCCGCAGCAGGGCCCGCGAGGCCCGCAGGTAGTCGTCCTTGTTGGTCAGCAGGTCCTGGAACACCATGGCCAGGAACTGGGGCAGAGAGAGGCCGCGTGGGAGGCTGCCCGACAGTGCTGTCCCTGTCACAGGCCCCTTCCCGCAGCACCAACAGGTATGGCGCCCGAGGGCGCTGCAGTGGGTCTCAGACAGTGTGGGGTGCGGGGTGGCGGGCTCCTTGCTCTACTGGCTGCCAGCCCTTGGCGAGCAGGGATCACATCTGATTCCCCTCTCTGAGAACCGGCAGGTGGGGAGTCGGTCCTCGTGAAATGAGGAGGATTAATTAACGGAAGCTGGGGGTGCGGGACACCAGGCGGCAAAGCCATAGAAGCGCGTGTGCCATCTCAGCCCACCCGTGCGCCACGGGCTGAACGGAAACCAAAGGCCACCACCCAAGATCTGAAAGGATCTGAAAGGACGCACTCCTGTCTCAAAATGCCAGGCCGCGAAGACTGAACGCGGAGCTGAGAGCGGCTGTGCCTCCCTCGTGTTTCACACTCCATAGAGCCCACCGGGAGGCCTAATGCGCTGGTGGCGATGGGAGCATCTCCCGAGCCCGCTTCAAAGGAGACACGGAAATCCAAGGGTCCTACAGCCAGGGCTACAGGGACCCCTGCTTAACCGAGGGACCCAATGCACAGGAGGCGGGTCTGGGCCAGGCACAGGGGCTCATGCCTGTCATCCCAGCACTTTGGGAGGTTGAGGCAGGAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCCACATAATAAGACCCGGTCTCCACAAAATTTTTAAAAACTACCTTACTATCCAAAGGCAGGAATGAGCTTGAAAAATAAAAACAGAAGGCAACAGGTCTGGGTCTTAGCTCAGAAACCTGGGTGGCTTTTAAGACTCAATGTGGCTCCCTCCTAAATGGACAGAGTGTCAGTTTCTGAGAAAGACGCTGGGCGCTGTGGCTGCACCCACTCTAGAAACGGCTCAACCTCATGCCCACGTGAGT
Task1_train_10905
This variant affects the gene MAD1L1 (mitotic arrest deficient 1 like 1) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Malignant tumor of prostate
CCGGGACCCTCTCACCCTGCCTTCCTCGGGAAGCACCAAGCACTCCCGGAGCCCCGGGTGGAGTACGAGCTTGTGCTGTCCTCATCCAGGGTACTCCAGCCCAAAACCCAGGAGAGCTGTGACAGAGGTGGCCGCCTTCTGAGAGAGGCTGACCCGCGCACCTCGGAGGGACTCCAGCCCTTGTGAGCTGCAAGGGCTGCCTCACAACAACCAAGAGACCCTTCTGTGATGCAGGACAAGAACTGGGGTTGGCACGGGGCTCCGCTCAGCACCATCACAGCCAGATGCGGCACCGGGCCTGGAACTGCCAGTCCCAGCGCAGACAGGGCAGCCAGCAGGTCTTTGGACTTCAGACACTTAAGTCTCGCCCCTAATAGGTATTTCCAGGTGGAACTCCAAGGAACAATTGGAAAACTACTGGTTCTGACTGTTCCTGGGGTCCCATGCAGCTGTGTCTGCGGGCAAGGAAGGACAGTCCTGTTAGAAGGTGGCTGGAGCTCAGCAGGGAGCCCCAGGTGTAAGCCCAGTCACCTGCATCCTTGGATTTCCCCAAGACAGGGTTCCCGGAGACCCTACAATGACCCCTCCCTCAATCCAACATTTGTGAGCACCCATAAAATGCCATAAGCTGTGCCACACAATGGAGATCCTGGGCAGAGTCGGGTGGGCCCTGCCCTCAGGGACTCTCGGCCTAGAGGAACTCCAACAGCTGCACACTGTCCCTCCTGCCTGACAGCCACAGCCATACCATCAGCATGCTGCCTCCAGACCAATGACCTGGTGGCTCCTCTCCACCCCTAACAAGGGAATCTCAGTAGTTAGGGAGACTCCTGTGGACTCTCCCTCCCCTTCCCACCAATTCCTCCAGTACTGTCCCTCCTAGGACCCACCCAGGCCATGAGCAAACGCCCCACCTCTCAGGGAAAACAGCTCTCAAAGCAGCAACGGAGCCAACCCTGAGGCAGTGGCCCCCACCCCAGCGGTGCCTCAGTCTCACTGAGCCCACACAACGCACACCGCAGTCAGGATCTGCAGGCCAGGGGCAAGCAATCCAACCAGCATCACACCCCGGAAGACGTGAGCTATTTTTCTAGGGCCCAGGAGAGTGTGTGAATACACCGCATGATGTCAGGGCGGGGCTGGACATCCACCCGCCAAGAGAGGGCACGGAGGCCAGGGAGACTTTCCGCCCAATACTCTGCCTGAACCTTGGCAGCATTTCCACAACTGATCAGCACTGACTGAAACCCTGGCAAAGTGCTGTTAATCAGAGCAGAGGGGATCCGCGCACTCAGTGGAAACCTAATTCCCTCCCCAAGGACAGGGTGTTTTCCCTGCTGCCCTGGGGAGCCAGGAGCAACACAGAGCCGCCATTGAGACCGGCACCCTTTGCTAGGGCCCTCCAACCCCAAGACCCAGCATGGACCCGAGACCCTGATCCACCCCATGACCTCCTAAGCCTGTCACTCCTACACCACTTGGCATTTCTGCCAGACCTGCATTCCAATTCTTCCAGAGGGAAGAGGAAACCAGGAGACCCAGCAAAAGAATCTGTGCCAGCACCGCAGCCTCAATGAACAGACACAGCAAGTGTTCCCATTTCATGCCACCCTCCTCTAGGACATCAAGCATAACTGATACCTGCCCCACAGCATGAGTGGCCTCAGAAGGAATGTCCTGGCAACCATGACACAGGGCGTGTCAGGCTTCCAGCCAGCTGGGTTCTCATTTCCTACGGCCTGGCAGGTACCGTGCACAGCCCCCTTGCTCCCAGGGACTGGGATCTGATTTCTTAAGACCTGGCAGGTACCATGCACAGCCCCCTTGCTCCCAGGGACTAGGATGTGATTTCTTATAACCTGGCAGGTACCGTGCACAGCCCCCTTGCTTCCTGGGGCTGTCTGGGCCGACCCTCGCCCCGCCTGAACCCACCTCGTAGTTCCTGGCACTGGTGCTGGCTGCTCTCTCCAGCTCCACTCGAGCCCTCTTGTGACTCAGCTCCATCTGCATTTTCTCCCGCTCCACCTGGATGAGGTGGGACTTCGAACGGATCTGCTCTGCTCTTTCCTCCAGCTGAGCAGGTCGCACCCAAAGAAAAACAGAATCCTCAGTGACGGCATCAAACCAGGTGAGTGACTCAGTGCAGCAGACACACTCCCTGAGGACCCATTCCCGCAGGTCCCGTGCTAAGTCTTGATGTGGCCCAGCCACTGGGCTCCAGGCTGGGGAACAGGGGAGGGGCAGGAAACGGGAAGGTGAAAAAGCCTGGGAAGAGGAAGACGTCTTTTGAGATGACATTAAGCATATTAGTGAAGGCAACGGCCTCGAATGCCACCCATTTATTTACCAGCCAACGGCTCCGTGGGTCGGAAGTCCAGACGTAGGTGGCTGCATTCTCTGACCAGGGTCTCCCAGACTAAAAATCAATGCAGTCGGCCAGGACATGTTCTCACGTGGAGCTCAGAGATGGAGAATGAGGTCTCCTTCCCGACTGGCTGCCAGCCCAGTACAGCCATCAACTCCTAGGTGCTGCCCACATCCCTTGCCACACGGCCCTCTCCATCTCCAAAGTCAACCACGTCCAATCTCCCTCATCAAATCCCTCTCCTGCTATGTCTCTTGACTGCTCGGCCTCGGACGTCTGGACTCAGACTTAAAGGGCTCAGGTGAGTACATCAAGCCCACCAGGGAGTGGATCAAGCCCACCCACGTAATCTCCCTATCTCAAGGTCAACAGATCTTAGACCTTAATTACATCTGCACAATCCCACAGCAATGAAACCTACTCAGTATTGGACTGAAACCTGGGAGGCAGTAGGAAGGTGAGTGTGCACAAGGAGCCTGGAATCTGGGGGCCCTCTCAGAAGCCTGCCTACCACACAGGGTTAGTGATTACAGGTGAGCTGAGCCTCTGGGGGCCCTCTCAGAAGTCTGCCTGCCACACAGGACTAGTGATTACAGGTGAGCTGAGCTCCTGGGGGCCCTCTCAGAAGTCTGCCTACCACACAGGGCTAGTGATTACAGGTTAGCTGAGCCTCAAAGAGCCCCAGAAGACTTGCCAAATAGTTCCAGAGCCGGCCTTTGGGTACGACCTGCTCAGCTGGAGGAAAAGGCAGAGTCACTGACTCTTCACGTGGCCCAGAGCCTTGCAGTGCAGCATCTCCCGGCACTTAACAAATGCAGAGTCGCAGACTACACCCCAGACCTACTCAGTCAGAATCTTCTCTTTAGGTTGGGTGTGGTGGCTCACACCTGTAATCCCAGTACTTTGAGAGGCCAAGGCGGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCGTGGTGGTACGCACCTGTAACCCCAGCTACTCAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCAAGATCACACCACTGCATTCCAGCCTGGATGACAGGGCAAGAGTTCGTCTCAAAAAAAAAAAAACAAAAGAATCTAGGCCAGGCGTGGTGGCTCACGTCTGTAATCCCAGCAGTTCGGGGGGCCAAGGTGGGTACATAACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAAACTATGAAAATTAGCCGAGTGTGGTGGTAACGCACCTGTAATCTCAGCTACTCGGGAGGCTGAGGAGGGAGAATCACTTGAACCCAGGAGACGGAGGCTGCAGTGAGCCAACATTGTACCACTGCACTCCAGCCTGGATGACAGAGTAAGACCCTATCTCCAAAAGAAAAAAAGAAACTTCTTTTTAGACACATTCTCAGGGCGTTCACATGCACATGAAAGGTTGAGAAGCACCAGAGTAGAGTGGTGGTTCCCAGTGGGGTCCAGTTTTGCCCCTGGGAACATCTGGCCCTGTCTGGAGACACCTGATTGTCACAGGGGGGTGGTCACATGTGTCTGCTGCTGGCTGGCGTCCAGGGGGTAGAGGCCAGGGAAGTTGTTAAACAGCCCACAATGCACAAGAAAGTCCTGAGAAAAAAGAATTACCCAGCCCAAATG
CCGGGACCCTCTCACCCTGCCTTCCTCGGGAAGCACCAAGCACTCCCGGAGCCCCGGGTGGAGTACGAGCTTGTGCTGTCCTCATCCAGGGTACTCCAGCCCAAAACCCAGGAGAGCTGTGACAGAGGTGGCCGCCTTCTGAGAGAGGCTGACCCGCGCACCTCGGAGGGACTCCAGCCCTTGTGAGCTGCAAGGGCTGCCTCACAACAACCAAGAGACCCTTCTGTGATGCAGGACAAGAACTGGGGTTGGCACGGGGCTCCGCTCAGCACCATCACAGCCAGATGCGGCACCGGGCCTGGAACTGCCAGTCCCAGCGCAGACAGGGCAGCCAGCAGGTCTTTGGACTTCAGACACTTAAGTCTCGCCCCTAATAGGTATTTCCAGGTGGAACTCCAAGGAACAATTGGAAAACTACTGGTTCTGACTGTTCCTGGGGTCCCATGCAGCTGTGTCTGCGGGCAAGGAAGGACAGTCCTGTTAGAAGGTGGCTGGAGCTCAGCAGGGAGCCCCAGGTGTAAGCCCAGTCACCTGCATCCTTGGATTTCCCCAAGACAGGGTTCCCGGAGACCCTACAATGACCCCTCCCTCAATCCAACATTTGTGAGCACCCATAAAATGCCATAAGCTGTGCCACACAATGGAGATCCTGGGCAGAGTCGGGTGGGCCCTGCCCTCAGGGACTCTCGGCCTAGAGGAACTCCAACAGCTGCACACTGTCCCTCCTGCCTGACAGCCACAGCCATACCATCAGCATGCTGCCTCCAGACCAATGACCTGGTGGCTCCTCTCCACCCCTAACAAGGGAATCTCAGTAGTTAGGGAGACTCCTGTGGACTCTCCCTCCCCTTCCCACCAATTCCTCCAGTACTGTCCCTCCTAGGACCCACCCAGGCCATGAGCAAACGCCCCACCTCTCAGGGAAAACAGCTCTCAAAGCAGCAACGGAGCCAACCCTGAGGCAGTGGCCCCCACCCCAGCGGTGCCTCAGTCTCACTGAGCCCACACAACGCACACCGCAGTCAGGATCTGCAGGCCAGGGGCAAGCAATCCAACCAGCATCACACCCCGGAAGACGTGAGCTATTTTTCTAGGGCCCAGGAGAGTGTGTGAATACACCGCATGATGTCAGGGCGGGGCTGGACATCCACCCGCCAAGAGAGGGCACGGAGGCCAGGGAGACTTTCCGCCCAATACTCTGCCTGAACCTTGGCAGCATTTCCACAACTGATCAGCACTGACTGAAACCCTGGCAAAGTGCTGTTAATCAGAGCAGAGGGGATCCGCGCACTCAGTGGAAACCTAATTCCCTCCCCAAGGACAGGGTGTTTTCCCTGCTGCCCTGGGGAGCCAGGAGCAACACAGAGCCGCCATTGAGACCGGCACCCTTTGCTAGGGCCCTCCAACCCCAAGACCCAGCATGGACCCGAGACCCTGATCCACCCCATGACCTCCTAAGCCTGTCACTCCTACACCACTTGGCATTTCTGCCAGACCTGCATTCCAATTCTTCCAGAGGGAAGAGGAAACCAGGAGACCCAGCAAAAGAATCTGTGCCAGCACCGCAGCCTCAATGAACAGACACAGCAAGTGTTCCCATTTCATGCCACCCTCCTCTAGGACATCAAGCATAACTGATACCTGCCCCACAGCATGAGTGGCCTCAGAAGGAATGTCCTGGCAACCATGACACAGGGCGTGTCAGGCTTCCAGCCAGCTGGGTTCTCATTTCCTACGGCCTGGCAGGTACCGTGCACAGCCCCCTTGCTCCCAGGGACTGGGATCTGATTTCTTAAGACCTGGCAGGTACCATGCACAGCCCCCTTGCTCCCAGGGACTAGGATGTGATTTCTTATAACCTGGCAGGTACCGTGCACAGCCCCCTTGCTTCCTGGGGCTGTCTGGGCCGACCCTCGCCCCGCCTGAACCCACCTCGTAGTTCCTGGCACTGGTGCTGGCTGCTCTCTCCAGCTCCACTCGAGCCCTCTTGTGACTCAGCTCCATCTGCATTTTCTCCCGCTCCACCTGGATGAGGTGGGACTTCGAACAGATCTGCTCTGCTCTTTCCTCCAGCTGAGCAGGTCGCACCCAAAGAAAAACAGAATCCTCAGTGACGGCATCAAACCAGGTGAGTGACTCAGTGCAGCAGACACACTCCCTGAGGACCCATTCCCGCAGGTCCCGTGCTAAGTCTTGATGTGGCCCAGCCACTGGGCTCCAGGCTGGGGAACAGGGGAGGGGCAGGAAACGGGAAGGTGAAAAAGCCTGGGAAGAGGAAGACGTCTTTTGAGATGACATTAAGCATATTAGTGAAGGCAACGGCCTCGAATGCCACCCATTTATTTACCAGCCAACGGCTCCGTGGGTCGGAAGTCCAGACGTAGGTGGCTGCATTCTCTGACCAGGGTCTCCCAGACTAAAAATCAATGCAGTCGGCCAGGACATGTTCTCACGTGGAGCTCAGAGATGGAGAATGAGGTCTCCTTCCCGACTGGCTGCCAGCCCAGTACAGCCATCAACTCCTAGGTGCTGCCCACATCCCTTGCCACACGGCCCTCTCCATCTCCAAAGTCAACCACGTCCAATCTCCCTCATCAAATCCCTCTCCTGCTATGTCTCTTGACTGCTCGGCCTCGGACGTCTGGACTCAGACTTAAAGGGCTCAGGTGAGTACATCAAGCCCACCAGGGAGTGGATCAAGCCCACCCACGTAATCTCCCTATCTCAAGGTCAACAGATCTTAGACCTTAATTACATCTGCACAATCCCACAGCAATGAAACCTACTCAGTATTGGACTGAAACCTGGGAGGCAGTAGGAAGGTGAGTGTGCACAAGGAGCCTGGAATCTGGGGGCCCTCTCAGAAGCCTGCCTACCACACAGGGTTAGTGATTACAGGTGAGCTGAGCCTCTGGGGGCCCTCTCAGAAGTCTGCCTGCCACACAGGACTAGTGATTACAGGTGAGCTGAGCTCCTGGGGGCCCTCTCAGAAGTCTGCCTACCACACAGGGCTAGTGATTACAGGTTAGCTGAGCCTCAAAGAGCCCCAGAAGACTTGCCAAATAGTTCCAGAGCCGGCCTTTGGGTACGACCTGCTCAGCTGGAGGAAAAGGCAGAGTCACTGACTCTTCACGTGGCCCAGAGCCTTGCAGTGCAGCATCTCCCGGCACTTAACAAATGCAGAGTCGCAGACTACACCCCAGACCTACTCAGTCAGAATCTTCTCTTTAGGTTGGGTGTGGTGGCTCACACCTGTAATCCCAGTACTTTGAGAGGCCAAGGCGGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCGTGGTGGTACGCACCTGTAACCCCAGCTACTCAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCAAGATCACACCACTGCATTCCAGCCTGGATGACAGGGCAAGAGTTCGTCTCAAAAAAAAAAAAACAAAAGAATCTAGGCCAGGCGTGGTGGCTCACGTCTGTAATCCCAGCAGTTCGGGGGGCCAAGGTGGGTACATAACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAAACTATGAAAATTAGCCGAGTGTGGTGGTAACGCACCTGTAATCTCAGCTACTCGGGAGGCTGAGGAGGGAGAATCACTTGAACCCAGGAGACGGAGGCTGCAGTGAGCCAACATTGTACCACTGCACTCCAGCCTGGATGACAGAGTAAGACCCTATCTCCAAAAGAAAAAAAGAAACTTCTTTTTAGACACATTCTCAGGGCGTTCACATGCACATGAAAGGTTGAGAAGCACCAGAGTAGAGTGGTGGTTCCCAGTGGGGTCCAGTTTTGCCCCTGGGAACATCTGGCCCTGTCTGGAGACACCTGATTGTCACAGGGGGGTGGTCACATGTGTCTGCTGCTGGCTGGCGTCCAGGGGGTAGAGGCCAGGGAAGTTGTTAAACAGCCCACAATGCACAAGAAAGTCCTGAGAAAAAAGAATTACCCAGCCCAAATG
Task1_train_10906
A variant has been detected on Chromosome 7 in MRM2 (mitochondrial rRNA methyltransferase 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Mitochondrial DNA depletion syndrome 17
GTATCAGCTTGAATCAATCCGTTATTTTGCTTTTTTCTGGGCCCACTAGAAATGCAATTTATGCTACTAGGCTACCTTCCCAGTGCTCTGCAAGCCAGGGCACAGCATCCAATGGGGTGAGGTCAGGCCCCACCATTATTATGGTAACCTTTGTCTATCCTTCAAATTGGAGCCTTCCTGAGAAGAGTGTGCCTTACTCGTTTCCATATTCTCTTCCTCTCCTCCTCCCGTCTCTGCCCAGCCCCTGGCTTCCCTCTAAGAAGATGCTGTTCCTAAGGGTCTGCAATGAATTTTCCTTCTTTCAGAGAAAGACTTCCAAGTTGTGTGCCCCGGGAATGAAATGGAATAAGAGAACGAGGTGGAGTAGGGCAAGAGTCCCTGGACTTAACAACCTGACTGCAACCAGAAATAAAATGAAAAGTCAAAACATCTGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTGAAAATACAAAAAAAAAAAAAAAAAATAGCCGGGCGTGGTGATGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCCGAATGGCGTGAACCCGGGAAGTGGAGCTTACAGTGAGCCAAGATCACTTCACTGCACTCCAGCCTGGGTGACAGAGTGAGATTCTGTTTCTCAAAGAAAAAAAAAAATCAAAACATCTGACCCGCAGTTTCCTTCGGGGAGCTGGACAGAGCCCCAGATTCCTGATGGAGATTCCTGGGTTTCCAGACTTCCCCCACTGGTCCTTGGAATTTAATCATAGTCAACAAACTCTTCTTGAGGGATGAGTACACCTCCAGGAAATGGCTTTGAGGAAGCCAGTTTAAAAAAAACAAAACTTCAAAGCATGAAAGTACCTTAAAATAATGCAATCTCTATTATTTTATTAAATATAAAGCTGCGTCAAGTTCCTAGATGAGTAAAAGAAAATAAACACACCACATCACTGCTTGCTTTGGCAATTACATTTATGTTCTTGGGAGCCCAGACACTGATATAAATTTCCAGCAAAAACCAAAGCAGACCCACTGCCTGGATAAATTCAGACCATACGTCTTCCCTAATTGTTCCGGGAACTTTTGCTGCTTGAAGAATGCGTGAATTGCTATATTGTTCACCAGAAAGACAGAAGTTAATCCCCAGATGGAAATTTCAGATTTTTCTTTTGGTTTGCTTTTTGGTTTTTCATTTTTGTAGACATGGGGGGTGTTGCTATGTTGCCCAGGTTGGTCTTGAACTCCTGACTTCAAGCAATCCCCCAGCCTCAGCCTTCTAAAGCCCTGGGTTTACAGGCATGAGTGGCCTCACCCAGCCCCCAGATTTTCTACTTTAAACAGCCACACTAAGAACTGGAAATCTGTGCGTGGTGCTCTCAGAGCAGGGGTGGAAAGCCTGTTTGTGTGTGACAGTTTAACAGTCTATAAGATGAAGTCCCGTCAAGGCACACATGGGCACACCCATCCCTGCCTCGGCGGATTCCTTCTGATCCTTCCCACAGTCTGTTTTTCTCCATCCTTCCATCCTCACCTCTTTCTCTTGATAACTTTCTCTTCCCAAATCACAATATAGCGGACTTTTTCATTTTCCATGGCCCCTGAACTTAGTTTTGTCATCTCTTTTTGGTTAAAAAGAGAGAGAGAGAAAGAGAGAGAGAGACTCCCCACTTGTCCTGCTCCATCTCCAAAATCAGCTCAAATCTCCCAGGAACTCTTCAGGAGCTCAGGCTACGTTTCTAGCTTAAAAGGAGCTAATGACCATTATGAAAATGGCACAAGAAATCCTCACTGCTTCACAGTGCCCTTCCTTCCGTGGTACTGTGTGGCCAAGAAGTACACTTCTGATGACTCTTTCCTGCTGGCTTCAGGTTTGATGATCCTTACATTCTGGAATTCCTCTGTCAGTCTCCTCTGTAACCGACGGCTTTGACTTCCAGCCCAGGTTTTACAAAGGAATGTCCCCCCAGGTTGCAGGATGTCTGGGGTCACGCTGAGAAGGGTCAGGCACAGGCTGATGAGCCTGTCATGATCGAGGTCCCGGAACCCTGTGGCATTGGGCGCCATGTCGCTCAGAATCACATCTGCTCTCCTGCCAGGAAGCACCTCGAGGATTCTCTGTGAGGTTCTCGGGTCAGTCACGTCAGCAGGGCACAGAAAAGTTGCTCCTTCCAGGGGGAATATGTGAAGAAGATCTACCCCAAGCACGAAGCCAACAGGAGAGCTGGGATCTATGGAAGAAATGGTGAATGTGTTATTTATTTACACCCTGAATCTTTTTACAAAAATACAGTACATGCAACAAAGTGATGAAATAAAAATAAAATGTCAAGACCAAGGCAAAGAGCTAATGTGCAAATAGGTAAACACAGGCCTTCTCTATCTATACATCCTATAAAGACACATGGTGGAGATGGCGGGCCTTAACATCTGAGAAGCTGAGGCCCAGACAGGAAGTGACTGTCCTAGAGTCATCCTCAGCCATGGGCAGACCTGTGCCAGGCATCAGGACTTCTGATTCCAAATCTGGTATCATTTCACTACCCAAGGCTCACTCTCTGTGAAAGGGTTCTTATCTCTGAGTGCTCTTTTTGATAAACTAAAATAGAAAATAGGCCAGTCCCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCTGACACGGGTGGATCACCTGAGGTCAGGACTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCAGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCTAAGATAGGAGAATCGCTTGAACCCGGGAAGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTTGGCGACAGAGCGAGACTCGATCTCAAAAGAAAAAGAAAAAGAAAAAGAAAATAATAAACTAGTACATAAAGTGCCTCTGGATTAAATCAAGAAATCCATTCTCCAGCTTAATCCAATTGCTTTCAATGTAGAAACTACTGGAAACAAGTCAAGAGATGAGGAAAATGAACAGATATAAAATAACGTACAAAAACTGATATCGGCTAGGTGTGGTGGCTTACACCTAAAATCCCAGCACTTTGGGAGGCTGAAGCAAGAGGATTACTTGAGCCCAGGAGTTCTAGTCCAGCCTGGGCAACATAGCAAGATCCTGTCTCTACAAAAAAATATAAAAATTAGCTGTAGTCTCAGCTACTCAGGAGACCCAGCTAAAATGAGGCGTGAGGCGTCCCATTTTCCTGGGGTGAAGACTGAGGGGTTTCGCCTTTGAAAAATGAGGTAATCTTCAAAATACCTGGACTTCCAATGTTTACACTAGGAATGAAACACGGTCCCTTTCTCTCCCCCTACCGTTGGAACAGCCTTTCTGTTAAGCAGACTGAACAAGAAAATCTGTGACTGTACCCTTAGCTTATCAACTCTGACAATTTCTCAACAGAACTACGGCCCTCCTCAGTGGAGGGGACTGTTGGGGAGATGGGGGCGTTGGGCTTGTGAAGAGGGGGCTTTGAATGTAGGTACAGAGTGAGAAGAGGGGGAGGCAGATGCTGAGATCAGTTATAGGCAACAAGTCTTGTTTTACGTAAGGTGACACAAAGGCATCTTTTTAGTTTTAGCAAACTGGTGTTACTCAAATATCAGCAAGTTATCTTTGTGTGTCTTTGTGTGTGTGTGTGTGAGACAAGGCCTCACTCCGTTGCACGGCCTCAGCTCACTGCAGCCTTGACTTCCCCAGGTTCGAGCGACCCCTGCCACCTCAGCTTCCCAAGGAGCTAGGACCACAGGAACATGCCACCACACCTGGCTAATTTTTTGTAGAGACGGGGGTTTCACCATATTGCCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCCCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCTCACGCCTCACTTTATGCTCCTGAGCTTTCACTCCTATAATATCCAGT
GTATCAGCTTGAATCAATCCGTTATTTTGCTTTTTTCTGGGCCCACTAGAAATGCAATTTATGCTACTAGGCTACCTTCCCAGTGCTCTGCAAGCCAGGGCACAGCATCCAATGGGGTGAGGTCAGGCCCCACCATTATTATGGTAACCTTTGTCTATCCTTCAAATTGGAGCCTTCCTGAGAAGAGTGTGCCTTACTCGTTTCCATATTCTCTTCCTCTCCTCCTCCCGTCTCTGCCCAGCCCCTGGCTTCCCTCTAAGAAGATGCTGTTCCTAAGGGTCTGCAATGAATTTTCCTTCTTTCAGAGAAAGACTTCCAAGTTGTGTGCCCCGGGAATGAAATGGAATAAGAGAACGAGGTGGAGTAGGGCAAGAGTCCCTGGACTTAACAACCTGACTGCAACCAGAAATAAAATGAAAAGTCAAAACATCTGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTGAAAATACAAAAAAAAAAAAAAAAAATAGCCGGGCGTGGTGATGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCCGAATGGCGTGAACCCGGGAAGTGGAGCTTACAGTGAGCCAAGATCACTTCACTGCACTCCAGCCTGGGTGACAGAGTGAGATTCTGTTTCTCAAAGAAAAAAAAAAATCAAAACATCTGACCCGCAGTTTCCTTCGGGGAGCTGGACAGAGCCCCAGATTCCTGATGGAGATTCCTGGGTTTCCAGACTTCCCCCACTGGTCCTTGGAATTTAATCATAGTCAACAAACTCTTCTTGAGGGATGAGTACACCTCCAGGAAATGGCTTTGAGGAAGCCAGTTTAAAAAAAACAAAACTTCAAAGCATGAAAGTACCTTAAAATAATGCAATCTCTATTATTTTATTAAATATAAAGCTGCGTCAAGTTCCTAGATGAGTAAAAGAAAATAAACACACCACATCACTGCTTGCTTTGGCAATTACATTTATGTTCTTGGGAGCCCAGACACTGATATAAATTTCCAGCAAAAACCAAAGCAGACCCACTGCCTGGATAAATTCAGACCATACGTCTTCCCTAATTGTTCCGGGAACTTTTGCTGCTTGAAGAATGCGTGAATTGCTATATTGTTCACCAGAAAGACAGAAGTTAATCCCCAGATGGAAATTTCAGATTTTTCTTTTGGTTTGCTTTTTGGTTTTTCATTTTTGTAGACATGGGGGGTGTTGCTATGTTGCCCAGGTTGGTCTTGAACTCCTGACTTCAAGCAATCCCCCAGCCTCAGCCTTCTAAAGCCCTGGGTTTACAGGCATGAGTGGCCTCACCCAGCCCCCAGATTTTCTACTTTAAACAGCCACACTAAGAACTGGAAATCTGTGCGTGGTGCTCTCAGAGCAGGGGTGGAAAGCCTGTTTGTGTGTGACAGTTTAACAGTCTATAAGATGAAGTCCCGTCAAGGCACACATGGGCACACCCATCCCTGCCTCGGCGGATTCCTTCTGATCCTTCCCACAGTCTGTTTTTCTCCATCCTTCCATCCTCACCTCTTTCTCTTGATAACTTTCTCTTCCCAAATCACAATATAGCGGACTTTTTCATTTTCCATGGCCCCTGAACTTAGTTTTGTCATCTCTTTTTGGTTAAAAAGAGAGAGAGAGAAAGAGAGAGAGAGACTCCCCACTTGTCCTGCTCCATCTCCAAAATCAGCTCAAATCTCCCAGGAACTCTTCAGGAGCTCAGGCTACGTTTCTAGCTTAAAAGGAGCTAATGACCATTATGAAAATGGCACAAGAAATCCTCACTGCTTCACAGTGCCCTTCCTTCCGTGGTACTGTGTGGCCAAGAAGTACACTTCTGATGACTCTTTCCTGCTGGCTTCAGGTTTGATGATCCTTACATTCTGGAATTCCTCTGTCAGTCTCCTCTGTAACCGACGGCTTTGACTTCCAGCCCAGGTTTTACAAAGGAATGTCCTCCCAGGTTGCAGGATGTCTGGGGTCACGCTGAGAAGGGTCAGGCACAGGCTGATGAGCCTGTCATGATCGAGGTCCCGGAACCCTGTGGCATTGGGCGCCATGTCGCTCAGAATCACATCTGCTCTCCTGCCAGGAAGCACCTCGAGGATTCTCTGTGAGGTTCTCGGGTCAGTCACGTCAGCAGGGCACAGAAAAGTTGCTCCTTCCAGGGGGAATATGTGAAGAAGATCTACCCCAAGCACGAAGCCAACAGGAGAGCTGGGATCTATGGAAGAAATGGTGAATGTGTTATTTATTTACACCCTGAATCTTTTTACAAAAATACAGTACATGCAACAAAGTGATGAAATAAAAATAAAATGTCAAGACCAAGGCAAAGAGCTAATGTGCAAATAGGTAAACACAGGCCTTCTCTATCTATACATCCTATAAAGACACATGGTGGAGATGGCGGGCCTTAACATCTGAGAAGCTGAGGCCCAGACAGGAAGTGACTGTCCTAGAGTCATCCTCAGCCATGGGCAGACCTGTGCCAGGCATCAGGACTTCTGATTCCAAATCTGGTATCATTTCACTACCCAAGGCTCACTCTCTGTGAAAGGGTTCTTATCTCTGAGTGCTCTTTTTGATAAACTAAAATAGAAAATAGGCCAGTCCCAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCTGACACGGGTGGATCACCTGAGGTCAGGACTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAAATTAGGCAGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCTAAGATAGGAGAATCGCTTGAACCCGGGAAGCGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTTGGCGACAGAGCGAGACTCGATCTCAAAAGAAAAAGAAAAAGAAAAAGAAAATAATAAACTAGTACATAAAGTGCCTCTGGATTAAATCAAGAAATCCATTCTCCAGCTTAATCCAATTGCTTTCAATGTAGAAACTACTGGAAACAAGTCAAGAGATGAGGAAAATGAACAGATATAAAATAACGTACAAAAACTGATATCGGCTAGGTGTGGTGGCTTACACCTAAAATCCCAGCACTTTGGGAGGCTGAAGCAAGAGGATTACTTGAGCCCAGGAGTTCTAGTCCAGCCTGGGCAACATAGCAAGATCCTGTCTCTACAAAAAAATATAAAAATTAGCTGTAGTCTCAGCTACTCAGGAGACCCAGCTAAAATGAGGCGTGAGGCGTCCCATTTTCCTGGGGTGAAGACTGAGGGGTTTCGCCTTTGAAAAATGAGGTAATCTTCAAAATACCTGGACTTCCAATGTTTACACTAGGAATGAAACACGGTCCCTTTCTCTCCCCCTACCGTTGGAACAGCCTTTCTGTTAAGCAGACTGAACAAGAAAATCTGTGACTGTACCCTTAGCTTATCAACTCTGACAATTTCTCAACAGAACTACGGCCCTCCTCAGTGGAGGGGACTGTTGGGGAGATGGGGGCGTTGGGCTTGTGAAGAGGGGGCTTTGAATGTAGGTACAGAGTGAGAAGAGGGGGAGGCAGATGCTGAGATCAGTTATAGGCAACAAGTCTTGTTTTACGTAAGGTGACACAAAGGCATCTTTTTAGTTTTAGCAAACTGGTGTTACTCAAATATCAGCAAGTTATCTTTGTGTGTCTTTGTGTGTGTGTGTGTGAGACAAGGCCTCACTCCGTTGCACGGCCTCAGCTCACTGCAGCCTTGACTTCCCCAGGTTCGAGCGACCCCTGCCACCTCAGCTTCCCAAGGAGCTAGGACCACAGGAACATGCCACCACACCTGGCTAATTTTTTGTAGAGACGGGGGTTTCACCATATTGCCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCCCTTGGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACTGCGCCCGGCCTCACGCCTCACTTTATGCTCCTGAGCTTTCACTCCTATAATATCCAGT
Task1_train_10907
A variant has been detected on Chromosome 7 in LFNG (LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Spondylocostal dysostosis 3, autosomal recessive
CGAGTCTGTGCGTGTGGCTGCCCTGGGGTGTCTATGGGTGCTGCAGGAGGGGTGCATGCATGGAGAGGCGGAGACCCAGCCTGCCACCCCCTTAGCTCTGGGCCTCACCCTAGTGAGCATGTGCCCAGGGCTGGGTCAGGCTGGATAAGGATCTGAGACTACCAAGGTGTTCCAGGGCCTCTGCGGGACCTGTGTGTACAGGGAAGGAAACTGAGGCTGGGTGGGCATCAGGGGGTTGTCCCTTGGTCAGAGCATTGCCCGTACACCCTGGGTTTTGCACTCAGCCATGCCAGGGTGCGCCGGGCGGCACGCGCTGGGCGGGCCGGGCAGAGGAAGGAACATTCCTCCCCGTGTGCCGGCAGGCCCAGGCGGGCGCCGGCGACTCCTGGCCCCGCCCTGGCGGCCCCCTCCTCTTCCGCAGAGCGCTCCTGGCAGGGGGCGGCCGCGTGCTGGCACAGGTGGGCTGTGGCCTTGGGCAAGCCTGGGTTTCCTTGCCTGAGCAGTGGGAGGGGTGCTGGGCTGCATGGGTACTGGGGGCCCCTGACCTGGGGGCTGGGGACACCTGAGGTTTCCTGCCACAACCCTGCTGACCGTTGGCAACTTTGCAGAACTTCAGGGCTGCTTTGGCTCAGAGTGGGTAGCTTGTCCTGCAGGTCACCCAGGACAGGGGTGCTGGCCCAAAGGGCAGCTGTGGGGTGGCTGCAGTGCTGGTGGCTGCACCCTACGCGCGGGACCTCATGCCCAGCCTGGCCCGGTTAACCAGGCCAGCTGTATGGTAATGGGCGGCGCGGCCACTCTGCTTAACTCGGCCGAGTTAAGGCCGGCCCGGCGCCCCTCTCCCGCCAGCCCAGGACAAAGCTGGCGGACAATGCCTGGTGATTCATCCTCCCTCCAGGCCCTTTGTCCGCCAGGGCTTGGCAGCCGCCCAGCGAAGGCCTTTGTCCCCAACCCCGAGTGATTGAGACTTGGCTTCCCACAGCCGACCTCCTCCGCCTGTCCCTCCCGCCACCCCGCCTGTCCCCCGCCTTTCCAGCAGCCTCCAAGTGGCAGGCTGGGTGCTGTGTCAATAAGGGTGTGTGCCCTGCCAGGTGCACGGGGCGGGTCGGGAACCGGTTACCTGGCGGGCGGGCGAGGCGCACCACCTGGCTCGTGCCTCACCGCGCCTGGACGACCTTGGGTGCAGCTGTCGAGGTTGGGGAGTGAGGCCCCCATCCCCCACCCCCAGGGCGAGTGAATGCGTGAGCTCTGGCCCAGATGGCACTGAGATGGGGCACTTGAGCCCTTCTCAGCACGAGTGGGGAAACCAAGGCCCGGAGAAGGGTGGGTGTCAGTGTGACGCAGCTGCAGCTGCAGCAACTCCAGGGCGCCCCGTCCGGCCCCCACAGATGGCCCTGGGGTGGGGATGAAGGGCTGCCTGCTGAAGGCCGATTTTCTCCTTCCAGACGTTCATCTTCACTGACGGGGAAGATGAGGCCCTGGCCAGGCACACGGGTGAGCCCTGGACTTGGGGCGGGAGGGGGCCCAGGCCTCCATCCAGAGCCGAACGCTCCCCCTCCAGTCTCCCTGCCCCTCTGGGCCGAGAGGTCACCAAGGGCAGGACAGGGAGGGCAGTTTACTCATGGGGTTTGCTCCATGCCCCGCCCCACCACTCGGGCCCCCCAATTCTCATGCAAATGAAGCCCATTCAGCCCCCCGGGTCCCTTTGAGCCCAGGCAGCGGCAACAGGTGGCGGGTGCTGGGAAAAAGCTGCCTGAATGGGCGGGGGCGGGGCCGCCCTGGAAGGGGCTGGGCTGCGGGAGGGTCCACAGGCCCAAGCCCCGAGCTAGGGTGGGGGAGGCTACGGCCGCCGGGCCCAGCTTGAACTAGGGGGCTTTTCTCGAGCCCCTGGGCCCTGTGGCGTCCCCCAGGCCAGGCCCCTCTCTGGGAGCCGGCTCAGACCTACTCACAGCCGCTCCCCTGTCCACAGGCAACGTGGTCATCACAAACTGCTCGGCCGCCCACAGCCGCCAGGCGCTGTCCTGCAAGATGGCCGTGGAGTATGACCGCTTCATCGAGTCCGGCAGGAAGTGAGTGTGGCCCCGGGGGACCCCCATCTCCCTGCCCGAGCCTGGCAGCGCCCGCCCCGGCATGCCCTCCCCCGATGGCCCTGCCTTGTCCTCAGGTGGTTCTGCCACGTGGACGATGACAACTACGTCAACCTGCGGGCCCTGCTGCGGCTGCTGGCCAGCTACCCGCACACGCGGGACGTCTACGTCGGCAAGCCCAGCCTGGACAGGCCCATCCAGGCCATGGAGCGGGTCAGCGAGAACAAGGTGGTGAGTGCCTGCCCCTCCCAGTCCCCCACGCCCACGCGGAGCGCACACCCGGAGTGGGGGTGGGACCGTGAGGGGCAGCAGCGCCTGGGTCTCAGGACACCTTCTCCCTTCTCCCAGCGTCCTGTCCACTTCTGGTTTGCCACGGGCGGCGCTGGCTTCTGCATCAGCCGTGGGCTGGCTCTGAAGATGAGCCCGTGGGCCAGGTGAGTGCCCTGCACAGGTTAGGCCAGCCCGGTCCCAGGCTCCTCGCCACTGTGGGGCCTGGCTTAGTTCATCTTCCCAGCCATGGGGTGTCCCCAGCCTCCTGTGTGGCACTGCCCACTTACTTCCTATATTCCACTTCCCTCTGGGTTTCAGAGGGCAGCTGTGTTTACGGCGGCTGCCCCCAAGCCTGACCTGCTCAGAGCAGCCAGGGGGGCGATGAGCACCCCAGGCACCATCCGGCAGGACTCTTCCCTGCACCCAGATTCCCTCCACAGAGAGCCACGGAGCACAGGAGCTGTGCAGGGAGTGTGCCCTGGCTGTGGCCAGGGGAGGCAGAGGGAGCTGCAGCCCAGAGCTCTCCTCAGGGCTCCTCTCCCTGAGGAGTGCAGCGCCTTTGCCTGGTGGGGCCTCCCCAGCTCCCAGCAGATGGCTCCCGCCTCTGCTCACTGGTCTGGGCCCTTCCCTCCCGCAGCGGGGGTCACTTCATGAATACGGCTGAGCGGATCCGGCTGCCTGATGACTGCACCATCGGCTACATCGTGGAGGCCCTGCTGGGTGTGCCCCTCATCCGCAGCGGCCTCTTCCACTCCCACCTGGAGAACCTGCAGCAGGTGCCCACCTCGGAGCTCCACGAGCAGGTGCACCATCCTCCGGGCCCCGCCAGGACTCCGAGAGCACAGGAAGGGACGTGTGGCTGCCGAGAGGGGCGCAGTGGGGTGGGGCACTGTTCTAAACAGGGAGGCCAGGCAGCACTCCACTGTCAGCCAGGGGGGGTCACTCCTGCCATGAGCTCAAAGCTGTTTATGGCGGGTTGTTTTCCTGCCGTCTCTTCTCTTCACTGTGATGCGCCTACTGTGCGTATTTTGTCCACGCTGGCAATGCAGCCAGCCCCAGCTGGTCCCCAGTTTGGGACCTTATTCCTGGGGTGTGCAGGGCAGGTGTCCTTCCAGGTCCAAGGGAGGCCAGGGCAGGGCCGTTGCCTCACTCAGGGCTGTGTGGCCAGCCTGGGGCGGGGCCCAGGGATGTCGGGCCCCTCCCGGCATCACTCCGCCCGCTCCCCACAGGTGACGCTGAGCTACGGTATGTTTGAAAACAAGCGGAACGCCGTCCACGTGAAGGGGCCCTTCTCGGTGGAGGCCGACCCATCCAGGTAAGGAAACCCCGGCCCAGATGGGCTTGCGTAGGGTGGCCTAGGGGCGTCAGGGGGCCTCGTGGAGCTGCAGCAGGGTCTCTCTAAGCGGCATGACTCTACATAGAGGTGTCCCCCGGAGTCCTGCTTGCTCGGGGTGGGGCCGCCAGTGTTGTGGGACTGCAAATGGGAGCTCAGCACCTGCCTGCCACCCACGCAGACCAGCCCCTGCTCTGTTCCCACAGGTTCCGCTCCATCCACTGCCACCTGTACCCGGACACACCCTGGTGTCCCCGCACTGCCATCTTCTAGTGGCCATGGCTGAGACCCAATCCCTGGGCGCCCCTGGTATCCAAAGGGCCCAGGGACCCTGTTGCGCTGCCCTGGCCTCGGCATTCGAGGCTCCCCTAGGGCCGTGCCTGTGCGTGTGCGTGTGCGTGTGTGTGTG
CGAGTCTGTGCGTGTGGCTGCCCTGGGGTGTCTATGGGTGCTGCAGGAGGGGTGCATGCATGGAGAGGCGGAGACCCAGCCTGCCACCCCCTTAGCTCTGGGCCTCACCCTAGTGAGCATGTGCCCAGGGCTGGGTCAGGCTGGATAAGGATCTGAGACTACCAAGGTGTTCCAGGGCCTCTGCGGGACCTGTGTGTACAGGGAAGGAAACTGAGGCTGGGTGGGCATCAGGGGGTTGTCCCTTGGTCAGAGCATTGCCCGTACACCCTGGGTTTTGCACTCAGCCATGCCAGGGTGCGCCGGGCGGCACGCGCTGGGCGGGCCGGGCAGAGGAAGGAACATTCCTCCCCGTGTGCCGGCAGGCCCAGGCGGGCGCCGGCGACTCCTGGCCCCGCCCTGGCGGCCCCCTCCTCTTCCGCAGAGCGCTCCTGGCAGGGGGCGGCCGCGTGCTGGCACAGGTGGGCTGTGGCCTTGGGCAAGCCTGGGTTTCCTTGCCTGAGCAGTGGGAGGGGTGCTGGGCTGCATGGGTACTGGGGGCCCCTGACCTGGGGGCTGGGGACACCTGAGGTTTCCTGCCACAACCCTGCTGACCGTTGGCAACTTTGCAGAACTTCAGGGCTGCTTTGGCTCAGAGTGGGTAGCTTGTCCTGCAGGTCACCCAGGACAGGGGTGCTGGCCCAAAGGGCAGCTGTGGGGTGGCTGCAGTGCTGGTGGCTGCACCCTACGCGCGGGACCTCATGCCCAGCCTGGCCCGGTTAACCAGGCCAGCTGTATGGTAATGGGCGGCGCGGCCACTCTGCTTAACTCGGCCGAGTTAAGGCCGGCCCGGCGCCCCTCTCCCGCCAGCCCAGGACAAAGCTGGCGGACAATGCCTGGTGATTCATCCTCCCTCCAGGCCCTTTGTCCGCCAGGGCTTGGCAGCCGCCCAGCGAAGGCCTTTGTCCCCAACCCCGAGTGATTGAGACTTGGCTTCCCACAGCCGACCTCCTCCGCCTGTCCCTCCCGCCACCCCGCCTGTCCCCCGCCTTTCCAGCAGCCTCCAAGTGGCAGGCTGGGTGCTGTGTCAATAAGGGTGTGTGCCCTGCCAGGTGCACGGGGCGGGTCGGGAACCGGTTACCTGGCGGGCGGGCGAGGCGCACCACCTGGCTCGTGCCTCACCGCGCCTGGACGACCTTGGGTGCAGCTGTCGAGGTTGGGGAGTGAGGCCCCCATCCCCCACCCCCAGGGCGAGTGAATGCGTGAGCTCTGGCCCAGATGGCACTGAGATGGGGCACTTGAGCCCTTCTCAGCACGAGTGGGGAAACCAAGGCCCGGAGAAGGGTGGGTGTCAGTGTGACGCAGCTGCAGCTGCAGCAACTCCAGGGCGCCCCGTCCGGCCCCCACAGATGGCCCTGGGGTGGGGATGAAGGGCTGCCTGCTGAAGGCCGATTTTCTCCTTCCAGACGTTCATCTTCACTGACGGGGAAGATGAGGCCCTGGCCAGGCACACGGGTGAGCCCTGGACTTGGGGCGGGAGGGGGCCCAGGCCTCCATCCAGAGCCGAACGCTCCCCCTCCAGTCTCCCTGCCCCTCTGGGCCGAGAGGTCACCAAGGGCAGGACAGGGAGGGCAGTTTACTCATGGGGTTTGCTCCATGCCCCGCCCCACCACTCGGGCCCCCCAATTCTCATGCAAATGAAGCCCATTCAGCCCCCCGGGTCCCTTTGAGCCCAGGCAGCGGCAACAGGTGGCGGGTGCTGGGAAAAAGCTGCCTGAATGGGCGGGGGCGGGGCCGCCCTGGAAGGGGCTGGGCTGCGGGAGGGTCCACAGGCCCAAGCCCCGAGCTAGGGTGGGGGAGGCTACGGCCGCCGGGCCCAGCTTGAACTAGGGGGCTTTTCTCGAGCCCCTGGGCCCTGTGGCGTCCCCCAGGCCAGGCCCCTCTCTGGGAGCCGGCTCAGACCTACTCACAGCCGCTCCCCTGTCCACAGGCAACGTGGTCATCACAAACTGCTCGGCCGCCCACAGCCGCCAGGCGCTGTCCTGCAAGATGGCCGTGGAGTATGACCGCTTAATCGAGTCCGGCAGGAAGTGAGTGTGGCCCCGGGGGACCCCCATCTCCCTGCCCGAGCCTGGCAGCGCCCGCCCCGGCATGCCCTCCCCCGATGGCCCTGCCTTGTCCTCAGGTGGTTCTGCCACGTGGACGATGACAACTACGTCAACCTGCGGGCCCTGCTGCGGCTGCTGGCCAGCTACCCGCACACGCGGGACGTCTACGTCGGCAAGCCCAGCCTGGACAGGCCCATCCAGGCCATGGAGCGGGTCAGCGAGAACAAGGTGGTGAGTGCCTGCCCCTCCCAGTCCCCCACGCCCACGCGGAGCGCACACCCGGAGTGGGGGTGGGACCGTGAGGGGCAGCAGCGCCTGGGTCTCAGGACACCTTCTCCCTTCTCCCAGCGTCCTGTCCACTTCTGGTTTGCCACGGGCGGCGCTGGCTTCTGCATCAGCCGTGGGCTGGCTCTGAAGATGAGCCCGTGGGCCAGGTGAGTGCCCTGCACAGGTTAGGCCAGCCCGGTCCCAGGCTCCTCGCCACTGTGGGGCCTGGCTTAGTTCATCTTCCCAGCCATGGGGTGTCCCCAGCCTCCTGTGTGGCACTGCCCACTTACTTCCTATATTCCACTTCCCTCTGGGTTTCAGAGGGCAGCTGTGTTTACGGCGGCTGCCCCCAAGCCTGACCTGCTCAGAGCAGCCAGGGGGGCGATGAGCACCCCAGGCACCATCCGGCAGGACTCTTCCCTGCACCCAGATTCCCTCCACAGAGAGCCACGGAGCACAGGAGCTGTGCAGGGAGTGTGCCCTGGCTGTGGCCAGGGGAGGCAGAGGGAGCTGCAGCCCAGAGCTCTCCTCAGGGCTCCTCTCCCTGAGGAGTGCAGCGCCTTTGCCTGGTGGGGCCTCCCCAGCTCCCAGCAGATGGCTCCCGCCTCTGCTCACTGGTCTGGGCCCTTCCCTCCCGCAGCGGGGGTCACTTCATGAATACGGCTGAGCGGATCCGGCTGCCTGATGACTGCACCATCGGCTACATCGTGGAGGCCCTGCTGGGTGTGCCCCTCATCCGCAGCGGCCTCTTCCACTCCCACCTGGAGAACCTGCAGCAGGTGCCCACCTCGGAGCTCCACGAGCAGGTGCACCATCCTCCGGGCCCCGCCAGGACTCCGAGAGCACAGGAAGGGACGTGTGGCTGCCGAGAGGGGCGCAGTGGGGTGGGGCACTGTTCTAAACAGGGAGGCCAGGCAGCACTCCACTGTCAGCCAGGGGGGGTCACTCCTGCCATGAGCTCAAAGCTGTTTATGGCGGGTTGTTTTCCTGCCGTCTCTTCTCTTCACTGTGATGCGCCTACTGTGCGTATTTTGTCCACGCTGGCAATGCAGCCAGCCCCAGCTGGTCCCCAGTTTGGGACCTTATTCCTGGGGTGTGCAGGGCAGGTGTCCTTCCAGGTCCAAGGGAGGCCAGGGCAGGGCCGTTGCCTCACTCAGGGCTGTGTGGCCAGCCTGGGGCGGGGCCCAGGGATGTCGGGCCCCTCCCGGCATCACTCCGCCCGCTCCCCACAGGTGACGCTGAGCTACGGTATGTTTGAAAACAAGCGGAACGCCGTCCACGTGAAGGGGCCCTTCTCGGTGGAGGCCGACCCATCCAGGTAAGGAAACCCCGGCCCAGATGGGCTTGCGTAGGGTGGCCTAGGGGCGTCAGGGGGCCTCGTGGAGCTGCAGCAGGGTCTCTCTAAGCGGCATGACTCTACATAGAGGTGTCCCCCGGAGTCCTGCTTGCTCGGGGTGGGGCCGCCAGTGTTGTGGGACTGCAAATGGGAGCTCAGCACCTGCCTGCCACCCACGCAGACCAGCCCCTGCTCTGTTCCCACAGGTTCCGCTCCATCCACTGCCACCTGTACCCGGACACACCCTGGTGTCCCCGCACTGCCATCTTCTAGTGGCCATGGCTGAGACCCAATCCCTGGGCGCCCCTGGTATCCAAAGGGCCCAGGGACCCTGTTGCGCTGCCCTGGCCTCGGCATTCGAGGCTCCCCTAGGGCCGTGCCTGTGCGTGTGCGTGTGCGTGTGTGTGTG
Task1_train_10908
The gene LFNG (LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Spondylocostal dysostosis 3, autosomal recessive
GGGTCAGGCTGGATAAGGATCTGAGACTACCAAGGTGTTCCAGGGCCTCTGCGGGACCTGTGTGTACAGGGAAGGAAACTGAGGCTGGGTGGGCATCAGGGGGTTGTCCCTTGGTCAGAGCATTGCCCGTACACCCTGGGTTTTGCACTCAGCCATGCCAGGGTGCGCCGGGCGGCACGCGCTGGGCGGGCCGGGCAGAGGAAGGAACATTCCTCCCCGTGTGCCGGCAGGCCCAGGCGGGCGCCGGCGACTCCTGGCCCCGCCCTGGCGGCCCCCTCCTCTTCCGCAGAGCGCTCCTGGCAGGGGGCGGCCGCGTGCTGGCACAGGTGGGCTGTGGCCTTGGGCAAGCCTGGGTTTCCTTGCCTGAGCAGTGGGAGGGGTGCTGGGCTGCATGGGTACTGGGGGCCCCTGACCTGGGGGCTGGGGACACCTGAGGTTTCCTGCCACAACCCTGCTGACCGTTGGCAACTTTGCAGAACTTCAGGGCTGCTTTGGCTCAGAGTGGGTAGCTTGTCCTGCAGGTCACCCAGGACAGGGGTGCTGGCCCAAAGGGCAGCTGTGGGGTGGCTGCAGTGCTGGTGGCTGCACCCTACGCGCGGGACCTCATGCCCAGCCTGGCCCGGTTAACCAGGCCAGCTGTATGGTAATGGGCGGCGCGGCCACTCTGCTTAACTCGGCCGAGTTAAGGCCGGCCCGGCGCCCCTCTCCCGCCAGCCCAGGACAAAGCTGGCGGACAATGCCTGGTGATTCATCCTCCCTCCAGGCCCTTTGTCCGCCAGGGCTTGGCAGCCGCCCAGCGAAGGCCTTTGTCCCCAACCCCGAGTGATTGAGACTTGGCTTCCCACAGCCGACCTCCTCCGCCTGTCCCTCCCGCCACCCCGCCTGTCCCCCGCCTTTCCAGCAGCCTCCAAGTGGCAGGCTGGGTGCTGTGTCAATAAGGGTGTGTGCCCTGCCAGGTGCACGGGGCGGGTCGGGAACCGGTTACCTGGCGGGCGGGCGAGGCGCACCACCTGGCTCGTGCCTCACCGCGCCTGGACGACCTTGGGTGCAGCTGTCGAGGTTGGGGAGTGAGGCCCCCATCCCCCACCCCCAGGGCGAGTGAATGCGTGAGCTCTGGCCCAGATGGCACTGAGATGGGGCACTTGAGCCCTTCTCAGCACGAGTGGGGAAACCAAGGCCCGGAGAAGGGTGGGTGTCAGTGTGACGCAGCTGCAGCTGCAGCAACTCCAGGGCGCCCCGTCCGGCCCCCACAGATGGCCCTGGGGTGGGGATGAAGGGCTGCCTGCTGAAGGCCGATTTTCTCCTTCCAGACGTTCATCTTCACTGACGGGGAAGATGAGGCCCTGGCCAGGCACACGGGTGAGCCCTGGACTTGGGGCGGGAGGGGGCCCAGGCCTCCATCCAGAGCCGAACGCTCCCCCTCCAGTCTCCCTGCCCCTCTGGGCCGAGAGGTCACCAAGGGCAGGACAGGGAGGGCAGTTTACTCATGGGGTTTGCTCCATGCCCCGCCCCACCACTCGGGCCCCCCAATTCTCATGCAAATGAAGCCCATTCAGCCCCCCGGGTCCCTTTGAGCCCAGGCAGCGGCAACAGGTGGCGGGTGCTGGGAAAAAGCTGCCTGAATGGGCGGGGGCGGGGCCGCCCTGGAAGGGGCTGGGCTGCGGGAGGGTCCACAGGCCCAAGCCCCGAGCTAGGGTGGGGGAGGCTACGGCCGCCGGGCCCAGCTTGAACTAGGGGGCTTTTCTCGAGCCCCTGGGCCCTGTGGCGTCCCCCAGGCCAGGCCCCTCTCTGGGAGCCGGCTCAGACCTACTCACAGCCGCTCCCCTGTCCACAGGCAACGTGGTCATCACAAACTGCTCGGCCGCCCACAGCCGCCAGGCGCTGTCCTGCAAGATGGCCGTGGAGTATGACCGCTTCATCGAGTCCGGCAGGAAGTGAGTGTGGCCCCGGGGGACCCCCATCTCCCTGCCCGAGCCTGGCAGCGCCCGCCCCGGCATGCCCTCCCCCGATGGCCCTGCCTTGTCCTCAGGTGGTTCTGCCACGTGGACGATGACAACTACGTCAACCTGCGGGCCCTGCTGCGGCTGCTGGCCAGCTACCCGCACACGCGGGACGTCTACGTCGGCAAGCCCAGCCTGGACAGGCCCATCCAGGCCATGGAGCGGGTCAGCGAGAACAAGGTGGTGAGTGCCTGCCCCTCCCAGTCCCCCACGCCCACGCGGAGCGCACACCCGGAGTGGGGGTGGGACCGTGAGGGGCAGCAGCGCCTGGGTCTCAGGACACCTTCTCCCTTCTCCCAGCGTCCTGTCCACTTCTGGTTTGCCACGGGCGGCGCTGGCTTCTGCATCAGCCGTGGGCTGGCTCTGAAGATGAGCCCGTGGGCCAGGTGAGTGCCCTGCACAGGTTAGGCCAGCCCGGTCCCAGGCTCCTCGCCACTGTGGGGCCTGGCTTAGTTCATCTTCCCAGCCATGGGGTGTCCCCAGCCTCCTGTGTGGCACTGCCCACTTACTTCCTATATTCCACTTCCCTCTGGGTTTCAGAGGGCAGCTGTGTTTACGGCGGCTGCCCCCAAGCCTGACCTGCTCAGAGCAGCCAGGGGGGCGATGAGCACCCCAGGCACCATCCGGCAGGACTCTTCCCTGCACCCAGATTCCCTCCACAGAGAGCCACGGAGCACAGGAGCTGTGCAGGGAGTGTGCCCTGGCTGTGGCCAGGGGAGGCAGAGGGAGCTGCAGCCCAGAGCTCTCCTCAGGGCTCCTCTCCCTGAGGAGTGCAGCGCCTTTGCCTGGTGGGGCCTCCCCAGCTCCCAGCAGATGGCTCCCGCCTCTGCTCACTGGTCTGGGCCCTTCCCTCCCGCAGCGGGGGTCACTTCATGAATACGGCTGAGCGGATCCGGCTGCCTGATGACTGCACCATCGGCTACATCGTGGAGGCCCTGCTGGGTGTGCCCCTCATCCGCAGCGGCCTCTTCCACTCCCACCTGGAGAACCTGCAGCAGGTGCCCACCTCGGAGCTCCACGAGCAGGTGCACCATCCTCCGGGCCCCGCCAGGACTCCGAGAGCACAGGAAGGGACGTGTGGCTGCCGAGAGGGGCGCAGTGGGGTGGGGCACTGTTCTAAACAGGGAGGCCAGGCAGCACTCCACTGTCAGCCAGGGGGGGTCACTCCTGCCATGAGCTCAAAGCTGTTTATGGCGGGTTGTTTTCCTGCCGTCTCTTCTCTTCACTGTGATGCGCCTACTGTGCGTATTTTGTCCACGCTGGCAATGCAGCCAGCCCCAGCTGGTCCCCAGTTTGGGACCTTATTCCTGGGGTGTGCAGGGCAGGTGTCCTTCCAGGTCCAAGGGAGGCCAGGGCAGGGCCGTTGCCTCACTCAGGGCTGTGTGGCCAGCCTGGGGCGGGGCCCAGGGATGTCGGGCCCCTCCCGGCATCACTCCGCCCGCTCCCCACAGGTGACGCTGAGCTACGGTATGTTTGAAAACAAGCGGAACGCCGTCCACGTGAAGGGGCCCTTCTCGGTGGAGGCCGACCCATCCAGGTAAGGAAACCCCGGCCCAGATGGGCTTGCGTAGGGTGGCCTAGGGGCGTCAGGGGGCCTCGTGGAGCTGCAGCAGGGTCTCTCTAAGCGGCATGACTCTACATAGAGGTGTCCCCCGGAGTCCTGCTTGCTCGGGGTGGGGCCGCCAGTGTTGTGGGACTGCAAATGGGAGCTCAGCACCTGCCTGCCACCCACGCAGACCAGCCCCTGCTCTGTTCCCACAGGTTCCGCTCCATCCACTGCCACCTGTACCCGGACACACCCTGGTGTCCCCGCACTGCCATCTTCTAGTGGCCATGGCTGAGACCCAATCCCTGGGCGCCCCTGGTATCCAAAGGGCCCAGGGACCCTGTTGCGCTGCCCTGGCCTCGGCATTCGAGGCTCCCCTAGGGCCGTGCCTGTGCGTGTGCGTGTGCGTGTGTGTGTGTGTGTACTGCATGCCCACCCGGGTAGCAGGCTGCTGGGCAGTTCTGCTCTGTGGAGGGGCGGGCACCAGCGCCACTTATGTGCCTCTGCTCCGAGGGCCAGTGGGCTGCAGGGCCTGCTTGGAGGAAGGATT
GGGTCAGGCTGGATAAGGATCTGAGACTACCAAGGTGTTCCAGGGCCTCTGCGGGACCTGTGTGTACAGGGAAGGAAACTGAGGCTGGGTGGGCATCAGGGGGTTGTCCCTTGGTCAGAGCATTGCCCGTACACCCTGGGTTTTGCACTCAGCCATGCCAGGGTGCGCCGGGCGGCACGCGCTGGGCGGGCCGGGCAGAGGAAGGAACATTCCTCCCCGTGTGCCGGCAGGCCCAGGCGGGCGCCGGCGACTCCTGGCCCCGCCCTGGCGGCCCCCTCCTCTTCCGCAGAGCGCTCCTGGCAGGGGGCGGCCGCGTGCTGGCACAGGTGGGCTGTGGCCTTGGGCAAGCCTGGGTTTCCTTGCCTGAGCAGTGGGAGGGGTGCTGGGCTGCATGGGTACTGGGGGCCCCTGACCTGGGGGCTGGGGACACCTGAGGTTTCCTGCCACAACCCTGCTGACCGTTGGCAACTTTGCAGAACTTCAGGGCTGCTTTGGCTCAGAGTGGGTAGCTTGTCCTGCAGGTCACCCAGGACAGGGGTGCTGGCCCAAAGGGCAGCTGTGGGGTGGCTGCAGTGCTGGTGGCTGCACCCTACGCGCGGGACCTCATGCCCAGCCTGGCCCGGTTAACCAGGCCAGCTGTATGGTAATGGGCGGCGCGGCCACTCTGCTTAACTCGGCCGAGTTAAGGCCGGCCCGGCGCCCCTCTCCCGCCAGCCCAGGACAAAGCTGGCGGACAATGCCTGGTGATTCATCCTCCCTCCAGGCCCTTTGTCCGCCAGGGCTTGGCAGCCGCCCAGCGAAGGCCTTTGTCCCCAACCCCGAGTGATTGAGACTTGGCTTCCCACAGCCGACCTCCTCCGCCTGTCCCTCCCGCCACCCCGCCTGTCCCCCGCCTTTCCAGCAGCCTCCAAGTGGCAGGCTGGGTGCTGTGTCAATAAGGGTGTGTGCCCTGCCAGGTGCACGGGGCGGGTCGGGAACCGGTTACCTGGCGGGCGGGCGAGGCGCACCACCTGGCTCGTGCCTCACCGCGCCTGGACGACCTTGGGTGCAGCTGTCGAGGTTGGGGAGTGAGGCCCCCATCCCCCACCCCCAGGGCGAGTGAATGCGTGAGCTCTGGCCCAGATGGCACTGAGATGGGGCACTTGAGCCCTTCTCAGCACGAGTGGGGAAACCAAGGCCCGGAGAAGGGTGGGTGTCAGTGTGACGCAGCTGCAGCTGCAGCAACTCCAGGGCGCCCCGTCCGGCCCCCACAGATGGCCCTGGGGTGGGGATGAAGGGCTGCCTGCTGAAGGCCGATTTTCTCCTTCCAGACGTTCATCTTCACTGACGGGGAAGATGAGGCCCTGGCCAGGCACACGGGTGAGCCCTGGACTTGGGGCGGGAGGGGGCCCAGGCCTCCATCCAGAGCCGAACGCTCCCCCTCCAGTCTCCCTGCCCCTCTGGGCCGAGAGGTCACCAAGGGCAGGACAGGGAGGGCAGTTTACTCATGGGGTTTGCTCCATGCCCCGCCCCACCACTCGGGCCCCCCAATTCTCATGCAAATGAAGCCCATTCAGCCCCCCGGGTCCCTTTGAGCCCAGGCAGCGGCAACAGGTGGCGGGTGCTGGGAAAAAGCTGCCTGAATGGGCGGGGGCGGGGCCGCCCTGGAAGGGGCTGGGCTGCGGGAGGGTCCACAGGCCCAAGCCCCGAGCTAGGGTGGGGGAGGCTACGGCCGCCGGGCCCAGCTTGAACTAGGGGGCTTTTCTCGAGCCCCTGGGCCCTGTGGCGTCCCCCAGGCCAGGCCCCTCTCTGGGAGCCGGCTCAGACCTACTCACAGCCGCTCCCCTGTCCACAGGCAACGTGGTCATCACAAACTGCTCGGCCGCCCACAGCCGCCAGGCGCTGTCCTGCAAGATGGCCGTGGAGTATGACCGCTTCATCGAGTCCGGCAGGAAGTGAGTGTGGCCCCGGGGGACCCCCATCTCCCTGCCCGAGCCTGGCAGCGCCCGCCCCGGCATGCCCTCCCCCGATGGCCCTGCCTTGTCCTCAGGTGGTTCTGCCACGTGGACAATGACAACTACGTCAACCTGCGGGCCCTGCTGCGGCTGCTGGCCAGCTACCCGCACACGCGGGACGTCTACGTCGGCAAGCCCAGCCTGGACAGGCCCATCCAGGCCATGGAGCGGGTCAGCGAGAACAAGGTGGTGAGTGCCTGCCCCTCCCAGTCCCCCACGCCCACGCGGAGCGCACACCCGGAGTGGGGGTGGGACCGTGAGGGGCAGCAGCGCCTGGGTCTCAGGACACCTTCTCCCTTCTCCCAGCGTCCTGTCCACTTCTGGTTTGCCACGGGCGGCGCTGGCTTCTGCATCAGCCGTGGGCTGGCTCTGAAGATGAGCCCGTGGGCCAGGTGAGTGCCCTGCACAGGTTAGGCCAGCCCGGTCCCAGGCTCCTCGCCACTGTGGGGCCTGGCTTAGTTCATCTTCCCAGCCATGGGGTGTCCCCAGCCTCCTGTGTGGCACTGCCCACTTACTTCCTATATTCCACTTCCCTCTGGGTTTCAGAGGGCAGCTGTGTTTACGGCGGCTGCCCCCAAGCCTGACCTGCTCAGAGCAGCCAGGGGGGCGATGAGCACCCCAGGCACCATCCGGCAGGACTCTTCCCTGCACCCAGATTCCCTCCACAGAGAGCCACGGAGCACAGGAGCTGTGCAGGGAGTGTGCCCTGGCTGTGGCCAGGGGAGGCAGAGGGAGCTGCAGCCCAGAGCTCTCCTCAGGGCTCCTCTCCCTGAGGAGTGCAGCGCCTTTGCCTGGTGGGGCCTCCCCAGCTCCCAGCAGATGGCTCCCGCCTCTGCTCACTGGTCTGGGCCCTTCCCTCCCGCAGCGGGGGTCACTTCATGAATACGGCTGAGCGGATCCGGCTGCCTGATGACTGCACCATCGGCTACATCGTGGAGGCCCTGCTGGGTGTGCCCCTCATCCGCAGCGGCCTCTTCCACTCCCACCTGGAGAACCTGCAGCAGGTGCCCACCTCGGAGCTCCACGAGCAGGTGCACCATCCTCCGGGCCCCGCCAGGACTCCGAGAGCACAGGAAGGGACGTGTGGCTGCCGAGAGGGGCGCAGTGGGGTGGGGCACTGTTCTAAACAGGGAGGCCAGGCAGCACTCCACTGTCAGCCAGGGGGGGTCACTCCTGCCATGAGCTCAAAGCTGTTTATGGCGGGTTGTTTTCCTGCCGTCTCTTCTCTTCACTGTGATGCGCCTACTGTGCGTATTTTGTCCACGCTGGCAATGCAGCCAGCCCCAGCTGGTCCCCAGTTTGGGACCTTATTCCTGGGGTGTGCAGGGCAGGTGTCCTTCCAGGTCCAAGGGAGGCCAGGGCAGGGCCGTTGCCTCACTCAGGGCTGTGTGGCCAGCCTGGGGCGGGGCCCAGGGATGTCGGGCCCCTCCCGGCATCACTCCGCCCGCTCCCCACAGGTGACGCTGAGCTACGGTATGTTTGAAAACAAGCGGAACGCCGTCCACGTGAAGGGGCCCTTCTCGGTGGAGGCCGACCCATCCAGGTAAGGAAACCCCGGCCCAGATGGGCTTGCGTAGGGTGGCCTAGGGGCGTCAGGGGGCCTCGTGGAGCTGCAGCAGGGTCTCTCTAAGCGGCATGACTCTACATAGAGGTGTCCCCCGGAGTCCTGCTTGCTCGGGGTGGGGCCGCCAGTGTTGTGGGACTGCAAATGGGAGCTCAGCACCTGCCTGCCACCCACGCAGACCAGCCCCTGCTCTGTTCCCACAGGTTCCGCTCCATCCACTGCCACCTGTACCCGGACACACCCTGGTGTCCCCGCACTGCCATCTTCTAGTGGCCATGGCTGAGACCCAATCCCTGGGCGCCCCTGGTATCCAAAGGGCCCAGGGACCCTGTTGCGCTGCCCTGGCCTCGGCATTCGAGGCTCCCCTAGGGCCGTGCCTGTGCGTGTGCGTGTGCGTGTGTGTGTGTGTGTACTGCATGCCCACCCGGGTAGCAGGCTGCTGGGCAGTTCTGCTCTGTGGAGGGGCGGGCACCAGCGCCACTTATGTGCCTCTGCTCCGAGGGCCAGTGGGCTGCAGGGCCTGCTTGGAGGAAGGATT
Task1_train_10909
The following genetic variant occurs in BRAT1 (BRCA1 associated ATM activator 1) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Neonatal-onset encephalopathy with rigidity and seizures
AAAAAAAAAGAGGTGAGGGGACCTGGTAGGTTTCCAGGGATGTGGAGCAAAGCAGAGATGGGTTTTCAGTTTTCCAGGGCTGGTGGAGATACTTCTGGAGGACACTTTCTTCTTCTTTTTTTTTTTTTTGAGACAGTCCCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACATCTCGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCTATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGCATTACAGGTGCCCACCACCACACCCAGCTAATTTTTTCATTTTTAGTAGAGACAGGGCTTTACCATGTTGGTTAGCCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGTGCCCAGCCTGGAGGGTACTTTCATACCAGCTGCTGACAGACAAGGGCCCCCGGATTCACTGTACGGCAGCACCCTAGGACACCTTGGAAAGTCTGTCCTGCAGCAAGATGGTGCCTGGGTGGGCTGCTAGGGAGCCTGCAGCTGCTTAACTGGGGGGCATCGTGAACGGCAAGCTAACGGTACTGGATGTGCCTTCGCACAACCTGGCGAGGGCCTGTGAGGCACCAAGAGAAGCCGTCGTGGTAGACGGGCAAGGGCCCTGAAGCTCACACCACGCATCCCGACAGACTCAGCGGTGCCTGTCTGAGGCACTTGAAGCTGGAAGACACAGCTCTGGGAGGCTCTCGAGCTCTCATGCCTTGCTATGTAGAAATTCTTGGCTGGGAGCAGTGGCTCACGACTGTATCCCAACACTTTGGGAGGCCGAGGCAGGATGATCGCTTGAGACCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTACCAAAGATAACAAAGTTAGCCAGGTGTGGTTCATGCACCTGTGGACCCAGCTACTCGGGAAGCTGAATGGGGAGGGTCACTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTGCCACTGCACTCCAGCCTGGACGACAGAGCAGGACTCTGTCTCTAAAAAACAAAACAAAAAAAGGCCGGGTATGGTGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCCGAGGCAGACGGATCACTTGAGGTCAAGGAGTTCGTGATCAGCCTGGCCAAAATGGTGAAATCCTGTCTCTACTAAAACTACAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGACTGCAGTTAGCTGAGTTCGAACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCGAAAAATAATAATAAAATAAAATAAAAATAAATAAAATTAATTTTTTAAAAAAAAGACATTCTCATTAGTCATTCACATTCTCATTAGTTATTCATTCATTTGTAGGCTGGGTCGCTGGAGGTGCAGGATGTGCGGTCTCATTTGGTCCTCACGACAACCCCACGGCGCAGCTACGACTCCTGTCTCCGTCCCAGGAAGAGACGGGGGCCACGGGGCAGCTACGACTCCTGTCTCCGTCCCAGGAAGAGACGGAGGCCACGGCGCAGCTGCGACTCCTGTCTCCGTCCCAGGAAGAGATGGAGGCTTGCGGCCGTGGGCAAGCTCAGACAGCTGGTCAGAGCTGGGAGCCCGTGCCAGTCATCTTATTCCAAAAAACCTCAACTCCTTAGCCCCAGCATCACTCCGGGCGAATTTTTCAAAGGGGGCTACAGTCGGGGGTAAAAAACATGCAGTTCTAGTGAGGACACAGGGTCGGGGCAGGCCGCTGGGACTTGGGATGGTGATGGCTACAAATGCCCCACCTGGCTGCGGGAGGAAAAGCCTGCCCACCTCTCCACGGGACACTCAGGTGGGAGGCCCCAGGCTCACCTGAAGATACTGGAAGCAGTTTTCCTGGGCTGCGAAGGTTCCTGCCAGGCGCAGTGAGAAGGAGAGGACCCCAGAACTCAGGTCCTGGACTTTCAGCACATGGGACAGCAGCTCCACCAGGCAGGGGTGCTCCTGCAGCAGCACGACACTGGACTCTGTGGGGATGGCCCAGCCCAGGGGTCACCAGGGGTACGGCACCAGGTGTCCCCCTGGATGACCGCTCTTCTCCTAGCAATTCCCAGACCCTTTTCTTGCAGGGTGTTAGATTTAGGGATCCAACTGGGAAAAAAATATCTGCAACAAATACGGCAAATGACTCATAATTTTAATTCAGTAAGGGCTAGAAAGCCAACACCTTAACAACAGGTGAAAGGCGGAACACTGTCACCTTTCACAACAGGTGAATGGCCAAAAATGCTGAAAAAATGTTCTGTCTCACTGATAGTGAAAAAGAAATGCAAATTAAAGTGAAAGACCAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAACACGTTAGGAGGCCAAGGCGGGTGGTCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAGTCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCTCATGCCTGTAGTCCCAGCTAATTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCAAGACCACGTCATTGCACACGGCACACTCCAGCCCTGGGCGACAGAGCGAGACTCCATTCCAAAAAAAAAAAAAAAAAAAAGTGGAAGAGCATTTTCACCTTCCAAATGGGTACTTTTCCTTAGACAGTGCTCCATGCAAGCAGGTACAATGGAACAAACATTCCTCTCCAGAACTGGCATCCTGTATTTCTATAACCAGCTATGCTATCGCTCAAAAGCACCAGTGGGGGAAAAAGACATTTTGAGGCAAAGGTTGGGAGAGTTTCCCAGTGAGAAGCCCCTGTGGAAAGAATGTGGTTCAGTAAGGAGAGTGAGGAGCATGCAGAGGAGGAGAACCAGGCCAGGACCCAAAAAGCACTATGTCCACCTGAATCAGCACTGCAGGCTGGGTGAGGTGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCAGGAGAACAACATAGCAAGACCCTGTCTCTACAAAAAATAAAAAAAAATTAGCCCGGCATGGTGGCACACATCTGCAGTCCCAGCTACTCAGGAGGCTGAGACGGGAGGATTGCTTGAGCCCAGGAGTTCGAGGCTGCAGCAAGCTATCACTGCACCACTGTACTCCAGCCTGGGCGACAGAGGGAGACCCTGTCTCTCTAAAAAAAAAAAAGGCGGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTTGAAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCAAACATGGTGAATGAAACCCTGTCTCTACTAAAATATAAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTGGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACTCGGGAGGTGGAGGTTGCGGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGTGACAGGGCAAGACTCTGTCTCAAAAACAAACAAACAAACAAACAAAAAACAATGCCACTGAGTTCAAAATCTAAAAAATCATTGTTGAAGGGTTTTGAAACAAAACAGAATTAAAATACTAACGACAATAATAGAAGGTTGTGATGGCCTGAAGTTCAAGTGCTCTGAGGTCCTTCGGTTGCCTGGATAGAGAATGGAAAGTCTAATTAACTTCAGACTTTTTAAAAAATCCGGTTCTCATGTTAAAAATATAAGGGTAGCCACTGAAGAACACAAATAAGCCTGTGGTCCCAGCATCTTGAGAGGCCGAGGTGGGCAGATTGCCTGAGCCCAGGAGTTTTAAGACCAGCTTGGGCAACACAGGAAGATCCCCTCTCTATAAAAATTCGCTGGGCATGGTGGCGCGCATCTATAGTCCCAGCTACACTGGAAGCTGAGATGGGAAGATCACCTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCCGTGATTACACCACTGTCCTGGACAACAGCACAAGAACTTGTCTAAAAAGAAG
AAAAAAAAAGAGGTGAGGGGACCTGGTAGGTTTCCAGGGATGTGGAGCAAAGCAGAGATGGGTTTTCAGTTTTCCAGGGCTGGTGGAGATACTTCTGGAGGACACTTTCTTCTTCTTTTTTTTTTTTTTGAGACAGTCCCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACATCTCGGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGCTATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGCATTACAGGTGCCCACCACCACACCCAGCTAATTTTTTCATTTTTAGTAGAGACAGGGCTTTACCATGTTGGTTAGCCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGTGCCCAGCCTGGAGGGTACTTTCATACCAGCTGCTGACAGACAAGGGCCCCCGGATTCACTGTACGGCAGCACCCTAGGACACCTTGGAAAGTCTGTCCTGCAGCAAGATGGTGCCTGGGTGGGCTGCTAGGGAGCCTGCAGCTGCTTAACTGGGGGGCATCGTGAACGGCAAGCTAACGGTACTGGATGTGCCTTCGCACAACCTGGCGAGGGCCTGTGAGGCACCAAGAGAAGCCGTCGTGGTAGACGGGCAAGGGCCCTGAAGCTCACACCACGCATCCCGACAGACTCAGCGGTGCCTGTCTGAGGCACTTGAAGCTGGAAGACACAGCTCTGGGAGGCTCTCGAGCTCTCATGCCTTGCTATGTAGAAATTCTTGGCTGGGAGCAGTGGCTCACGACTGTATCCCAACACTTTGGGAGGCCGAGGCAGGATGATCGCTTGAGACCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCATCTCTACCAAAGATAACAAAGTTAGCCAGGTGTGGTTCATGCACCTGTGGACCCAGCTACTCGGGAAGCTGAATGGGGAGGGTCACTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTGCCACTGCACTCCAGCCTGGACGACAGAGCAGGACTCTGTCTCTAAAAAACAAAACAAAAAAAGGCCGGGTATGGTGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCCGAGGCAGACGGATCACTTGAGGTCAAGGAGTTCGTGATCAGCCTGGCCAAAATGGTGAAATCCTGTCTCTACTAAAACTACAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGACTGCAGTTAGCTGAGTTCGAACCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCGAAAAATAATAATAAAATAAAATAAAAATAAATAAAATTAATTTTTTAAAAAAAAGACATTCTCATTAGTCATTCACATTCTCATTAGTTATTCATTCATTTGTAGGCTGGGTCGCTGGAGGTGCAGGATGTGCGGTCTCATTTGGTCCTCACGACAACCCCACGGCGCAGCTACGACTCCTGTCTCCGTCCCAGGAAGAGACGGGGGCCACGGGGCAGCTACGACTCCTGTCTCCGTCCCAGGAAGAGACGGAGGCCACGGCGCAGCTGCGACTCCTGTCTCCGTCCCAGGAAGAGATGGAGGCTTGCGGCCGTGGGCAAGCTCAGACAGCTGGTCAGAGCTGGGAGCCCGTGCCAGTCATCTTATTCCAAAAAACCTCAACTCCTTAGCCCCAGCATCACTCCGGGCGAATTTTTCAAAGGGGGCTACAGTCGGGGGTAAAAAACATGCAGTTCTAGTGAGGACACAGGGTCGGGGCAGGCCGCTGGGACTTGGGATGGTGATGGCTACAAATGCCCCACCTGGCTGCGGGAGGAAAAGCCTGCCCACCTCTCCACGGGACACTCAGGTGGGAGGCCCCAGGCTCACCTGAAGATACTGGAAGCAGTTTTCCTGGGCTGCGAAGGTTCCTGCCAGGCGCAGTGAGAAGGAGAGGACCCCAGAACTCAGGTCCTGGACTTTCAGCACATGGGACGGCAGCTCCACCAGGCAGGGGTGCTCCTGCAGCAGCACGACACTGGACTCTGTGGGGATGGCCCAGCCCAGGGGTCACCAGGGGTACGGCACCAGGTGTCCCCCTGGATGACCGCTCTTCTCCTAGCAATTCCCAGACCCTTTTCTTGCAGGGTGTTAGATTTAGGGATCCAACTGGGAAAAAAATATCTGCAACAAATACGGCAAATGACTCATAATTTTAATTCAGTAAGGGCTAGAAAGCCAACACCTTAACAACAGGTGAAAGGCGGAACACTGTCACCTTTCACAACAGGTGAATGGCCAAAAATGCTGAAAAAATGTTCTGTCTCACTGATAGTGAAAAAGAAATGCAAATTAAAGTGAAAGACCAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAACACGTTAGGAGGCCAAGGCGGGTGGTCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAGTCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCTCATGCCTGTAGTCCCAGCTAATTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCAAGACCACGTCATTGCACACGGCACACTCCAGCCCTGGGCGACAGAGCGAGACTCCATTCCAAAAAAAAAAAAAAAAAAAAGTGGAAGAGCATTTTCACCTTCCAAATGGGTACTTTTCCTTAGACAGTGCTCCATGCAAGCAGGTACAATGGAACAAACATTCCTCTCCAGAACTGGCATCCTGTATTTCTATAACCAGCTATGCTATCGCTCAAAAGCACCAGTGGGGGAAAAAGACATTTTGAGGCAAAGGTTGGGAGAGTTTCCCAGTGAGAAGCCCCTGTGGAAAGAATGTGGTTCAGTAAGGAGAGTGAGGAGCATGCAGAGGAGGAGAACCAGGCCAGGACCCAAAAAGCACTATGTCCACCTGAATCAGCACTGCAGGCTGGGTGAGGTGCTCATACCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCAGGAGAACAACATAGCAAGACCCTGTCTCTACAAAAAATAAAAAAAAATTAGCCCGGCATGGTGGCACACATCTGCAGTCCCAGCTACTCAGGAGGCTGAGACGGGAGGATTGCTTGAGCCCAGGAGTTCGAGGCTGCAGCAAGCTATCACTGCACCACTGTACTCCAGCCTGGGCGACAGAGGGAGACCCTGTCTCTCTAAAAAAAAAAAAGGCGGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTTGAAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCAAACATGGTGAATGAAACCCTGTCTCTACTAAAATATAAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTGGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACTCGGGAGGTGGAGGTTGCGGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGTGACAGGGCAAGACTCTGTCTCAAAAACAAACAAACAAACAAACAAAAAACAATGCCACTGAGTTCAAAATCTAAAAAATCATTGTTGAAGGGTTTTGAAACAAAACAGAATTAAAATACTAACGACAATAATAGAAGGTTGTGATGGCCTGAAGTTCAAGTGCTCTGAGGTCCTTCGGTTGCCTGGATAGAGAATGGAAAGTCTAATTAACTTCAGACTTTTTAAAAAATCCGGTTCTCATGTTAAAAATATAAGGGTAGCCACTGAAGAACACAAATAAGCCTGTGGTCCCAGCATCTTGAGAGGCCGAGGTGGGCAGATTGCCTGAGCCCAGGAGTTTTAAGACCAGCTTGGGCAACACAGGAAGATCCCCTCTCTATAAAAATTCGCTGGGCATGGTGGCGCGCATCTATAGTCCCAGCTACACTGGAAGCTGAGATGGGAAGATCACCTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCCGTGATTACACCACTGTCCTGGACAACAGCACAAGAACTTGTCTAAAAAGAAG
Task1_train_10910
This mutation occurs in CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1) on Chromosome 7. Does this change lead to a known medical condition, or is it benign?
Pathogenic; BENTA disease
CCTTCCTGTCTTTTTCCTTCCTTTTTCTTTCTCTTTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAAAACAAAATGCCCCCTACTTATGGGCTTTGCGAGTGCTTTCCCCTGAGACTTGCATGGTTGGCTCCTTTCATCCCTTCAGATCTCTCTTCATGTGTCTCCTTCTCAGAGACCTTTCCTGGACACCCTAGTTAAAGTAGCAATCCTCATGTTCTGTCCTCACGCCCTGTCTTCTCTTCTTGATAGCACTCATTTCTACCAAGTATCTATGCATTTGTTTTCTGATTACAATGTTAGTTCCACGACAGAAGGGTTTTAGTCTTCAGCTATGTATCCCTGGAAAAGAGCCTGGGGGCCAGGTGTGGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCAAGTGTGCAGATTGCCCGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAAATAGAAAAAGGGGGGTGGGTAGGATAAAAATAGAAAAAAATTAGCTGGCATAGCATGTACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGCAAGGCCAAAGCTACAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCAAAAAACTCCTCCAAAAAACCCAAAAACAAAAAGCCTGGTACCCGATGGAACTCAATAAACAGAAAGAATGAACGAGGCCGGGTGCAGTGGCTCATACCTGTAATCCCACCACTTTGTAAGGCCAAGGGAGGCAGATCACTTGAGCCCAGGAGTTGCAGATCAGCCTGGGCAAAATAGCGAGACCCCTTTTCTACAAAAAAATTGAAAGAATAGCCTGGCGTGATGGTGGGCACCTGTAGTCCCAGCTACTTTGGAGGCTGAGACAGGAGGATCACTTGAGTCTAGGAGGTCAAGGCTTCAGTGAGCCATGATCACACCACTGCAGCCTGGGCAGTGGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGCCTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATT
CCTTCCTGTCTTTTTCCTTCCTTTTTCTTTCTCTTTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAAAACAAAATGCCCCCTACTTATGGGCTTTGCGAGTGCTTTCCCCTGAGACTTGCATGGTTGGCTCCTTTCATCCCTTCAGATCTCTCTTCATGTGTCTCCTTCTCAGAGACCTTTCCTGGACACCCTAGTTAAAGTAGCAATCCTCATGTTCTGTCCTCACGCCCTGTCTTCTCTTCTTGATAGCACTCATTTCTACCAAGTATCTATGCATTTGTTTTCTGATTACAATGTTAGTTCCACGACAGAAGGGTTTTAGTCTTCAGCTATGTATCCCTGGAAAAGAGCCTGGGGGCCAGGTGTGGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCAAGTGTGCAGATTGCCCGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAAATAGAAAAAGGGGGGTGGGTAGGATAAAAATAGAAAAAAATTAGCTGGCATAGCATGTACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGCAAGGCCAAAGCTACAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCAAAAAACTCCTCCAAAAAACCCAAAAACAAAAAGCCTGGTACCCGATGGAACTCAATAAACAGAAAGAATGAACGAGGCCGGGTGCAGTGGCTCATACCTGTAATCCCACCACTTTGTAAGGCCAAGGGAGGCAGATCACTTGAGCCCAGGAGTTGCAGATCAGCCTGGGCAAAATAGCGAGACCCCTTTTCTACAAAAAAATTGAAAGAATAGCCTGGCGTGATGGTGGGCACCTGTAGTCCCAGCTACTTTGGAGGCTGAGACAGGAGGATCACTTGAGTCTAGGAGGTCAAGGCTTCAGTGAGCCATGATCACACCACTGCAGCCTGGGCAGTGGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCCCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGCCTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATT
Task1_train_10911
Given a variant located on Chromosome 7 and affecting CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; BENTA disease
TTTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAAAACAAAATGCCCCCTACTTATGGGCTTTGCGAGTGCTTTCCCCTGAGACTTGCATGGTTGGCTCCTTTCATCCCTTCAGATCTCTCTTCATGTGTCTCCTTCTCAGAGACCTTTCCTGGACACCCTAGTTAAAGTAGCAATCCTCATGTTCTGTCCTCACGCCCTGTCTTCTCTTCTTGATAGCACTCATTTCTACCAAGTATCTATGCATTTGTTTTCTGATTACAATGTTAGTTCCACGACAGAAGGGTTTTAGTCTTCAGCTATGTATCCCTGGAAAAGAGCCTGGGGGCCAGGTGTGGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCAAGTGTGCAGATTGCCCGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAAATAGAAAAAGGGGGGTGGGTAGGATAAAAATAGAAAAAAATTAGCTGGCATAGCATGTACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGCAAGGCCAAAGCTACAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCAAAAAACTCCTCCAAAAAACCCAAAAACAAAAAGCCTGGTACCCGATGGAACTCAATAAACAGAAAGAATGAACGAGGCCGGGTGCAGTGGCTCATACCTGTAATCCCACCACTTTGTAAGGCCAAGGGAGGCAGATCACTTGAGCCCAGGAGTTGCAGATCAGCCTGGGCAAAATAGCGAGACCCCTTTTCTACAAAAAAATTGAAAGAATAGCCTGGCGTGATGGTGGGCACCTGTAGTCCCAGCTACTTTGGAGGCTGAGACAGGAGGATCACTTGAGTCTAGGAGGTCAAGGCTTCAGTGAGCCATGATCACACCACTGCAGCCTGGGCAGTGGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGCCTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTT
TTTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAAAACAAAATGCCCCCTACTTATGGGCTTTGCGAGTGCTTTCCCCTGAGACTTGCATGGTTGGCTCCTTTCATCCCTTCAGATCTCTCTTCATGTGTCTCCTTCTCAGAGACCTTTCCTGGACACCCTAGTTAAAGTAGCAATCCTCATGTTCTGTCCTCACGCCCTGTCTTCTCTTCTTGATAGCACTCATTTCTACCAAGTATCTATGCATTTGTTTTCTGATTACAATGTTAGTTCCACGACAGAAGGGTTTTAGTCTTCAGCTATGTATCCCTGGAAAAGAGCCTGGGGGCCAGGTGTGGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCAAGTGTGCAGATTGCCCGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAAATAGAAAAAGGGGGGTGGGTAGGATAAAAATAGAAAAAAATTAGCTGGCATAGCATGTACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGCAAGGCCAAAGCTACAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCAAAAAACTCCTCCAAAAAACCCAAAAACAAAAAGCCTGGTACCCGATGGAACTCAATAAACAGAAAGAATGAACGAGGCCGGGTGCAGTGGCTCATACCTGTAATCCCACCACTTTGTAAGGCCAAGGGAGGCAGATCACTTGAGCCCAGGAGTTGCAGATCAGCCTGGGCAAAATAGCGAGACCCCTTTTCTACAAAAAAATTGAAAGAATAGCCTGGCGTGATGGTGGGCACCTGTAGTCCCAGCTACTTTGGAGGCTGAGACAGGAGGATCACTTGAGTCTAGGAGGTCAAGGCTTCAGTGAGCCATGATCACACCACTGCAGCCTGGGCAGTGGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGTCTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTT
Task1_train_10912
Located on Chromosome 7, this mutation impacts CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Severe combined immunodeficiency due to CARD11 deficiency
TTTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAAAACAAAATGCCCCCTACTTATGGGCTTTGCGAGTGCTTTCCCCTGAGACTTGCATGGTTGGCTCCTTTCATCCCTTCAGATCTCTCTTCATGTGTCTCCTTCTCAGAGACCTTTCCTGGACACCCTAGTTAAAGTAGCAATCCTCATGTTCTGTCCTCACGCCCTGTCTTCTCTTCTTGATAGCACTCATTTCTACCAAGTATCTATGCATTTGTTTTCTGATTACAATGTTAGTTCCACGACAGAAGGGTTTTAGTCTTCAGCTATGTATCCCTGGAAAAGAGCCTGGGGGCCAGGTGTGGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCAAGTGTGCAGATTGCCCGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAAATAGAAAAAGGGGGGTGGGTAGGATAAAAATAGAAAAAAATTAGCTGGCATAGCATGTACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGCAAGGCCAAAGCTACAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCAAAAAACTCCTCCAAAAAACCCAAAAACAAAAAGCCTGGTACCCGATGGAACTCAATAAACAGAAAGAATGAACGAGGCCGGGTGCAGTGGCTCATACCTGTAATCCCACCACTTTGTAAGGCCAAGGGAGGCAGATCACTTGAGCCCAGGAGTTGCAGATCAGCCTGGGCAAAATAGCGAGACCCCTTTTCTACAAAAAAATTGAAAGAATAGCCTGGCGTGATGGTGGGCACCTGTAGTCCCAGCTACTTTGGAGGCTGAGACAGGAGGATCACTTGAGTCTAGGAGGTCAAGGCTTCAGTGAGCCATGATCACACCACTGCAGCCTGGGCAGTGGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGCCTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTT
TTTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAAAACAAAATGCCCCCTACTTATGGGCTTTGCGAGTGCTTTCCCCTGAGACTTGCATGGTTGGCTCCTTTCATCCCTTCAGATCTCTCTTCATGTGTCTCCTTCTCAGAGACCTTTCCTGGACACCCTAGTTAAAGTAGCAATCCTCATGTTCTGTCCTCACGCCCTGTCTTCTCTTCTTGATAGCACTCATTTCTACCAAGTATCTATGCATTTGTTTTCTGATTACAATGTTAGTTCCACGACAGAAGGGTTTTAGTCTTCAGCTATGTATCCCTGGAAAAGAGCCTGGGGGCCAGGTGTGGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCAAGTGTGCAGATTGCCCGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAAATAGAAAAAGGGGGGTGGGTAGGATAAAAATAGAAAAAAATTAGCTGGCATAGCATGTACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGCAAGGCCAAAGCTACAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCAAAAAACTCCTCCAAAAAACCCAAAAACAAAAAGCCTGGTACCCGATGGAACTCAATAAACAGAAAGAATGAACGAGGCCGGGTGCAGTGGCTCATACCTGTAATCCCACCACTTTGTAAGGCCAAGGGAGGCAGATCACTTGAGCCCAGGAGTTGCAGATCAGCCTGGGCAAAATAGCGAGACCCCTTTTCTACAAAAAAATTGAAAGAATAGCCTGGCGTGATGGTGGGCACCTGTAGTCCCAGCTACTTTGGAGGCTGAGACAGGAGGATCACTTGAGTCTAGGAGGTCAAGGCTTCAGTGAGCCATGATCACACCACTGCAGCCTGGGCAGTGGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGTCTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTT
Task1_train_10913
This variant affects gene CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1) located on Chromosome 7. Evaluate its biological effect and specify any disease association.
Pathogenic; Severe combined immunodeficiency due to CARD11 deficiency
TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAAAACAAAATGCCCCCTACTTATGGGCTTTGCGAGTGCTTTCCCCTGAGACTTGCATGGTTGGCTCCTTTCATCCCTTCAGATCTCTCTTCATGTGTCTCCTTCTCAGAGACCTTTCCTGGACACCCTAGTTAAAGTAGCAATCCTCATGTTCTGTCCTCACGCCCTGTCTTCTCTTCTTGATAGCACTCATTTCTACCAAGTATCTATGCATTTGTTTTCTGATTACAATGTTAGTTCCACGACAGAAGGGTTTTAGTCTTCAGCTATGTATCCCTGGAAAAGAGCCTGGGGGCCAGGTGTGGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCAAGTGTGCAGATTGCCCGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAAATAGAAAAAGGGGGGTGGGTAGGATAAAAATAGAAAAAAATTAGCTGGCATAGCATGTACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGCAAGGCCAAAGCTACAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCAAAAAACTCCTCCAAAAAACCCAAAAACAAAAAGCCTGGTACCCGATGGAACTCAATAAACAGAAAGAATGAACGAGGCCGGGTGCAGTGGCTCATACCTGTAATCCCACCACTTTGTAAGGCCAAGGGAGGCAGATCACTTGAGCCCAGGAGTTGCAGATCAGCCTGGGCAAAATAGCGAGACCCCTTTTCTACAAAAAAATTGAAAGAATAGCCTGGCGTGATGGTGGGCACCTGTAGTCCCAGCTACTTTGGAGGCTGAGACAGGAGGATCACTTGAGTCTAGGAGGTCAAGGCTTCAGTGAGCCATGATCACACCACTGCAGCCTGGGCAGTGGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGCCTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTA
TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAAAACAAAATGCCCCCTACTTATGGGCTTTGCGAGTGCTTTCCCCTGAGACTTGCATGGTTGGCTCCTTTCATCCCTTCAGATCTCTCTTCATGTGTCTCCTTCTCAGAGACCTTTCCTGGACACCCTAGTTAAAGTAGCAATCCTCATGTTCTGTCCTCACGCCCTGTCTTCTCTTCTTGATAGCACTCATTTCTACCAAGTATCTATGCATTTGTTTTCTGATTACAATGTTAGTTCCACGACAGAAGGGTTTTAGTCTTCAGCTATGTATCCCTGGAAAAGAGCCTGGGGGCCAGGTGTGGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCAAGTGTGCAGATTGCCCGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAAATAGAAAAAGGGGGGTGGGTAGGATAAAAATAGAAAAAAATTAGCTGGCATAGCATGTACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGCAAGGCCAAAGCTACAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCAAAAAACTCCTCCAAAAAACCCAAAAACAAAAAGCCTGGTACCCGATGGAACTCAATAAACAGAAAGAATGAACGAGGCCGGGTGCAGTGGCTCATACCTGTAATCCCACCACTTTGTAAGGCCAAGGGAGGCAGATCACTTGAGCCCAGGAGTTGCAGATCAGCCTGGGCAAAATAGCGAGACCCCTTTTCTACAAAAAAATTGAAAGAATAGCCTGGCGTGATGGTGGGCACCTGTAGTCCCAGCTACTTTGGAGGCTGAGACAGGAGGATCACTTGAGTCTAGGAGGTCAAGGCTTCAGTGAGCCATGATCACACCACTGCAGCCTGGGCAGTGGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGCTTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTA
Task1_train_10914
Given a variant located on Chromosome 7 and affecting CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; BENTA disease
TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAAAACAAAATGCCCCCTACTTATGGGCTTTGCGAGTGCTTTCCCCTGAGACTTGCATGGTTGGCTCCTTTCATCCCTTCAGATCTCTCTTCATGTGTCTCCTTCTCAGAGACCTTTCCTGGACACCCTAGTTAAAGTAGCAATCCTCATGTTCTGTCCTCACGCCCTGTCTTCTCTTCTTGATAGCACTCATTTCTACCAAGTATCTATGCATTTGTTTTCTGATTACAATGTTAGTTCCACGACAGAAGGGTTTTAGTCTTCAGCTATGTATCCCTGGAAAAGAGCCTGGGGGCCAGGTGTGGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCAAGTGTGCAGATTGCCCGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAAATAGAAAAAGGGGGGTGGGTAGGATAAAAATAGAAAAAAATTAGCTGGCATAGCATGTACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGCAAGGCCAAAGCTACAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCAAAAAACTCCTCCAAAAAACCCAAAAACAAAAAGCCTGGTACCCGATGGAACTCAATAAACAGAAAGAATGAACGAGGCCGGGTGCAGTGGCTCATACCTGTAATCCCACCACTTTGTAAGGCCAAGGGAGGCAGATCACTTGAGCCCAGGAGTTGCAGATCAGCCTGGGCAAAATAGCGAGACCCCTTTTCTACAAAAAAATTGAAAGAATAGCCTGGCGTGATGGTGGGCACCTGTAGTCCCAGCTACTTTGGAGGCTGAGACAGGAGGATCACTTGAGTCTAGGAGGTCAAGGCTTCAGTGAGCCATGATCACACCACTGCAGCCTGGGCAGTGGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGCCTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTA
TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAAAACAAAATGCCCCCTACTTATGGGCTTTGCGAGTGCTTTCCCCTGAGACTTGCATGGTTGGCTCCTTTCATCCCTTCAGATCTCTCTTCATGTGTCTCCTTCTCAGAGACCTTTCCTGGACACCCTAGTTAAAGTAGCAATCCTCATGTTCTGTCCTCACGCCCTGTCTTCTCTTCTTGATAGCACTCATTTCTACCAAGTATCTATGCATTTGTTTTCTGATTACAATGTTAGTTCCACGACAGAAGGGTTTTAGTCTTCAGCTATGTATCCCTGGAAAAGAGCCTGGGGGCCAGGTGTGGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCAAGTGTGCAGATTGCCCGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAAATAGAAAAAGGGGGGTGGGTAGGATAAAAATAGAAAAAAATTAGCTGGCATAGCATGTACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGCAAGGCCAAAGCTACAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCAAAAAACTCCTCCAAAAAACCCAAAAACAAAAAGCCTGGTACCCGATGGAACTCAATAAACAGAAAGAATGAACGAGGCCGGGTGCAGTGGCTCATACCTGTAATCCCACCACTTTGTAAGGCCAAGGGAGGCAGATCACTTGAGCCCAGGAGTTGCAGATCAGCCTGGGCAAAATAGCGAGACCCCTTTTCTACAAAAAAATTGAAAGAATAGCCTGGCGTGATGGTGGGCACCTGTAGTCCCAGCTACTTTGGAGGCTGAGACAGGAGGATCACTTGAGTCTAGGAGGTCAAGGCTTCAGTGAGCCATGATCACACCACTGCAGCCTGGGCAGTGGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGCTTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTA
Task1_train_10915
A mutation found in CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Asthma
TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAAAACAAAATGCCCCCTACTTATGGGCTTTGCGAGTGCTTTCCCCTGAGACTTGCATGGTTGGCTCCTTTCATCCCTTCAGATCTCTCTTCATGTGTCTCCTTCTCAGAGACCTTTCCTGGACACCCTAGTTAAAGTAGCAATCCTCATGTTCTGTCCTCACGCCCTGTCTTCTCTTCTTGATAGCACTCATTTCTACCAAGTATCTATGCATTTGTTTTCTGATTACAATGTTAGTTCCACGACAGAAGGGTTTTAGTCTTCAGCTATGTATCCCTGGAAAAGAGCCTGGGGGCCAGGTGTGGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCAAGTGTGCAGATTGCCCGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAAATAGAAAAAGGGGGGTGGGTAGGATAAAAATAGAAAAAAATTAGCTGGCATAGCATGTACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGCAAGGCCAAAGCTACAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCAAAAAACTCCTCCAAAAAACCCAAAAACAAAAAGCCTGGTACCCGATGGAACTCAATAAACAGAAAGAATGAACGAGGCCGGGTGCAGTGGCTCATACCTGTAATCCCACCACTTTGTAAGGCCAAGGGAGGCAGATCACTTGAGCCCAGGAGTTGCAGATCAGCCTGGGCAAAATAGCGAGACCCCTTTTCTACAAAAAAATTGAAAGAATAGCCTGGCGTGATGGTGGGCACCTGTAGTCCCAGCTACTTTGGAGGCTGAGACAGGAGGATCACTTGAGTCTAGGAGGTCAAGGCTTCAGTGAGCCATGATCACACCACTGCAGCCTGGGCAGTGGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGCCTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTA
TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAAAACAAAATGCCCCCTACTTATGGGCTTTGCGAGTGCTTTCCCCTGAGACTTGCATGGTTGGCTCCTTTCATCCCTTCAGATCTCTCTTCATGTGTCTCCTTCTCAGAGACCTTTCCTGGACACCCTAGTTAAAGTAGCAATCCTCATGTTCTGTCCTCACGCCCTGTCTTCTCTTCTTGATAGCACTCATTTCTACCAAGTATCTATGCATTTGTTTTCTGATTACAATGTTAGTTCCACGACAGAAGGGTTTTAGTCTTCAGCTATGTATCCCTGGAAAAGAGCCTGGGGGCCAGGTGTGGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCAAGTGTGCAGATTGCCCGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAAATAGAAAAAGGGGGGTGGGTAGGATAAAAATAGAAAAAAATTAGCTGGCATAGCATGTACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGCAAGGCCAAAGCTACAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCAAAAAACTCCTCCAAAAAACCCAAAAACAAAAAGCCTGGTACCCGATGGAACTCAATAAACAGAAAGAATGAACGAGGCCGGGTGCAGTGGCTCATACCTGTAATCCCACCACTTTGTAAGGCCAAGGGAGGCAGATCACTTGAGCCCAGGAGTTGCAGATCAGCCTGGGCAAAATAGCGAGACCCCTTTTCTACAAAAAAATTGAAAGAATAGCCTGGCGTGATGGTGGGCACCTGTAGTCCCAGCTACTTTGGAGGCTGAGACAGGAGGATCACTTGAGTCTAGGAGGTCAAGGCTTCAGTGAGCCATGATCACACCACTGCAGCCTGGGCAGTGGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGCTTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTA
Task1_train_10916
Gene CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Splenomegaly
TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAAAACAAAATGCCCCCTACTTATGGGCTTTGCGAGTGCTTTCCCCTGAGACTTGCATGGTTGGCTCCTTTCATCCCTTCAGATCTCTCTTCATGTGTCTCCTTCTCAGAGACCTTTCCTGGACACCCTAGTTAAAGTAGCAATCCTCATGTTCTGTCCTCACGCCCTGTCTTCTCTTCTTGATAGCACTCATTTCTACCAAGTATCTATGCATTTGTTTTCTGATTACAATGTTAGTTCCACGACAGAAGGGTTTTAGTCTTCAGCTATGTATCCCTGGAAAAGAGCCTGGGGGCCAGGTGTGGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCAAGTGTGCAGATTGCCCGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAAATAGAAAAAGGGGGGTGGGTAGGATAAAAATAGAAAAAAATTAGCTGGCATAGCATGTACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGCAAGGCCAAAGCTACAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCAAAAAACTCCTCCAAAAAACCCAAAAACAAAAAGCCTGGTACCCGATGGAACTCAATAAACAGAAAGAATGAACGAGGCCGGGTGCAGTGGCTCATACCTGTAATCCCACCACTTTGTAAGGCCAAGGGAGGCAGATCACTTGAGCCCAGGAGTTGCAGATCAGCCTGGGCAAAATAGCGAGACCCCTTTTCTACAAAAAAATTGAAAGAATAGCCTGGCGTGATGGTGGGCACCTGTAGTCCCAGCTACTTTGGAGGCTGAGACAGGAGGATCACTTGAGTCTAGGAGGTCAAGGCTTCAGTGAGCCATGATCACACCACTGCAGCCTGGGCAGTGGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGCCTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTA
TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAAAACAAAATGCCCCCTACTTATGGGCTTTGCGAGTGCTTTCCCCTGAGACTTGCATGGTTGGCTCCTTTCATCCCTTCAGATCTCTCTTCATGTGTCTCCTTCTCAGAGACCTTTCCTGGACACCCTAGTTAAAGTAGCAATCCTCATGTTCTGTCCTCACGCCCTGTCTTCTCTTCTTGATAGCACTCATTTCTACCAAGTATCTATGCATTTGTTTTCTGATTACAATGTTAGTTCCACGACAGAAGGGTTTTAGTCTTCAGCTATGTATCCCTGGAAAAGAGCCTGGGGGCCAGGTGTGGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCAAGTGTGCAGATTGCCCGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAAATAGAAAAAGGGGGGTGGGTAGGATAAAAATAGAAAAAAATTAGCTGGCATAGCATGTACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGCAAGGCCAAAGCTACAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCAAAAAACTCCTCCAAAAAACCCAAAAACAAAAAGCCTGGTACCCGATGGAACTCAATAAACAGAAAGAATGAACGAGGCCGGGTGCAGTGGCTCATACCTGTAATCCCACCACTTTGTAAGGCCAAGGGAGGCAGATCACTTGAGCCCAGGAGTTGCAGATCAGCCTGGGCAAAATAGCGAGACCCCTTTTCTACAAAAAAATTGAAAGAATAGCCTGGCGTGATGGTGGGCACCTGTAGTCCCAGCTACTTTGGAGGCTGAGACAGGAGGATCACTTGAGTCTAGGAGGTCAAGGCTTCAGTGAGCCATGATCACACCACTGCAGCCTGGGCAGTGGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGCTTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTA
Task1_train_10917
A genomic change on Chromosome 7 affects CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Osteopenia
TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAAAACAAAATGCCCCCTACTTATGGGCTTTGCGAGTGCTTTCCCCTGAGACTTGCATGGTTGGCTCCTTTCATCCCTTCAGATCTCTCTTCATGTGTCTCCTTCTCAGAGACCTTTCCTGGACACCCTAGTTAAAGTAGCAATCCTCATGTTCTGTCCTCACGCCCTGTCTTCTCTTCTTGATAGCACTCATTTCTACCAAGTATCTATGCATTTGTTTTCTGATTACAATGTTAGTTCCACGACAGAAGGGTTTTAGTCTTCAGCTATGTATCCCTGGAAAAGAGCCTGGGGGCCAGGTGTGGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCAAGTGTGCAGATTGCCCGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAAATAGAAAAAGGGGGGTGGGTAGGATAAAAATAGAAAAAAATTAGCTGGCATAGCATGTACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGCAAGGCCAAAGCTACAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCAAAAAACTCCTCCAAAAAACCCAAAAACAAAAAGCCTGGTACCCGATGGAACTCAATAAACAGAAAGAATGAACGAGGCCGGGTGCAGTGGCTCATACCTGTAATCCCACCACTTTGTAAGGCCAAGGGAGGCAGATCACTTGAGCCCAGGAGTTGCAGATCAGCCTGGGCAAAATAGCGAGACCCCTTTTCTACAAAAAAATTGAAAGAATAGCCTGGCGTGATGGTGGGCACCTGTAGTCCCAGCTACTTTGGAGGCTGAGACAGGAGGATCACTTGAGTCTAGGAGGTCAAGGCTTCAGTGAGCCATGATCACACCACTGCAGCCTGGGCAGTGGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGCCTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTA
TTCTCTCTCTCTCCCTTCCTTCCTTCCTTCCTTCCTTCTAGTTCTTTCTTTTGACAGGCATGGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTAATCGTCCTGCCTTATCACCCCTAGTAGCTGGGACTACAGGTGCATACCACCATGCCTGGCTTATTTTTGTAGAGATGGGGTTTTGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGACTGAAGCAATCCTCCCGCCTTGGCCTCCCCAAATGCTGGGATTACAGGTGTGGGCCATCAAGCTCAGCCTTCCTGCTGTTTCTTCAAAAACAAAAACAAAAACAAAAACAAAATGCCCCCTACTTATGGGCTTTGCGAGTGCTTTCCCCTGAGACTTGCATGGTTGGCTCCTTTCATCCCTTCAGATCTCTCTTCATGTGTCTCCTTCTCAGAGACCTTTCCTGGACACCCTAGTTAAAGTAGCAATCCTCATGTTCTGTCCTCACGCCCTGTCTTCTCTTCTTGATAGCACTCATTTCTACCAAGTATCTATGCATTTGTTTTCTGATTACAATGTTAGTTCCACGACAGAAGGGTTTTAGTCTTCAGCTATGTATCCCTGGAAAAGAGCCTGGGGGCCAGGTGTGGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCAAGTGTGCAGATTGCCCGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAAATAGAAAAAGGGGGGTGGGTAGGATAAAAATAGAAAAAAATTAGCTGGCATAGCATGTACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGTGGGAGGATCACCTGAGCCTGCAAGGCCAAAGCTACAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCAAAAAACTCCTCCAAAAAACCCAAAAACAAAAAGCCTGGTACCCGATGGAACTCAATAAACAGAAAGAATGAACGAGGCCGGGTGCAGTGGCTCATACCTGTAATCCCACCACTTTGTAAGGCCAAGGGAGGCAGATCACTTGAGCCCAGGAGTTGCAGATCAGCCTGGGCAAAATAGCGAGACCCCTTTTCTACAAAAAAATTGAAAGAATAGCCTGGCGTGATGGTGGGCACCTGTAGTCCCAGCTACTTTGGAGGCTGAGACAGGAGGATCACTTGAGTCTAGGAGGTCAAGGCTTCAGTGAGCCATGATCACACCACTGCAGCCTGGGCAGTGGAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGCTTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTA
Task1_train_10918
The following genetic variant occurs in CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; BENTA disease
AAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGCCTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCGGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATAT
AAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGCCTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGGGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCGGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATAT
Task1_train_10919
A variant was discovered in gene CARD11, CARD11-AS1 (caspase recruitment domain family member 11| CARD11 antisense RNA 1), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Severe combined immunodeficiency due to CARD11 deficiency
AAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGCCTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCGGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATAT
AAAAGAAAAAGAAAGAAAGAAAAGAAGGAAAGGAAAATAAAAGAAAAGAAAAAAGAAGATGTAAATCTCCTTAATTCATTTGCGGAGTGAGCCATTCTGGGTCTGCATGCGCATGTGCAAGGTGGATCTGGGACTGAGCCGGTGGTGGAAAGCTGCGCACTGGGTCGGTCCTTGTGCGCATGTCTGCCCATGCGCACAGGGGATGTAGGCCGCTTACCCGGTAGCGCTAAGCACTATGGGTACACGTGCAGGTGCATAGTGGACCTAGAACTCCCAGAGGCCCTGTGTCCTCCATTCCCCCACACCTGGCTGGCAGGAAGCTCCGGCAGACCACGTGCATGTGCCTGCACCTGCTTTATGGGAGAATTGAGCCCTGGTGACATTTGTTTCCCCCGGGTCACCCTGGCGGAGTAGCCCTTGGGCACCCCTCACCTCGAGTTGGAGGTCTCGGCTCCTCATGACCGCCATGTTCTTCTCCTCACTGAGCTGTGCGTAGCGCATGGCTAAGTTGTAGTTGTCGTCCTTCACCTTGACCAGCTCGTCATTGTAGCTGTCCCGCTCTTCCTTCATCTTGTAGTACCGCTCCTGGAAGGTTAGCAGCTCCACGCGCGTCAGCGTCATCTGCTTCTTCTCATCCTCCAGCTGCCGCAACCTGGCCAGCAGCTCGCAGCGTTGCAGGTCCTTGGCCTTCATCTGCTGCTGCAGCTTGATGACCTCGTTCATCAGGAAGTGCGTGAGGCCCTCGTGGCCTTCCTCCACTGTGGAGAGGGGGCACCCAGTCAGGCCTGAGGACTGGGAAGTGGAAAAAGGAGGTTCCAGACGCAGGGCAGGTGCCATTCATTCACTCACTCACCAACGTTGTGCCAAGCTCTTTACTCACTCTGCCCACGAGGCACTGGGGATTCAGAGTGAGCGAGACTCACAGCCTTGGCCCCGGGAGAGCTTAGGGTGTAATAAGAGAAACACATTTAAAAAAATCAAATGATACCACAAATAGAATTACAGACCGTGAGGATTTCACAAAGTAAAGGTAGATGGGGCTATGAGAGTGTGTAGCAGGGGCCCAGATCCAGCCTTGTGGGCAGAGGGGGTTGGAGAAGGCTCCTGATGGTTGAGGTAAAATGTTAAGTTCGGGTGGGAAAAGGCATTCTAGGAAAGGGGAACAACATTGCCAAGGCCATATGGGGAGGAGGGAGGAACTTGGCATATTTCAGGAACTGAACGAAGACCAAAGTGGCCGAAGGAGAGAGAGAGAAGAGAAAGGCGAGGCTGGTGGTGTCAGCAGGGACTGGATCATGAAGGGTCCTTGTGGGCTGCATTAAAGACCTGGGACTTTTTTTATATTTTAAAACAGGGTCTCGCTCTATTACCCAGGCTGGAGTGCAGGGGCATGATCATAGCTTATTGCAGCCTGGAACTCCTGGGCTCAAGCAATTCTATGGCTGCAGCCTCCAAAAGTGTTGGAATTTCAGGCATGAGCCACTGTGCCTGGCCAAGACCTGGGTCTTTACAAAGAAGCAATGAAAAACCACCAAAGGGTTTTAAATAGGGGAGGAAGAATGGAGAAAGCACTGGAACAGATCGGGAATGGATATGGAGAGTTAATGGGGTTGTGGGAGTCTGGACTGTGGGAAGTGTTGGGGCGGGCGAGAAGACTGATTCAAGAATGTTTAGAAAGGAAGATTAAGAAGGCAAGATGCTCAAGGGCTCTGGCCCATGAGACACTAGAAAGAATGCAGGCAAGGCAAGGACAAGATCTACGGGGTAGAATGAACTTGTGTTCCACCTGGCGCCATTCATGGGGGATGGTCCGTGAACACCCACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGGGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCGGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATAT
Task1_train_10920
This sequence variant lies in CARD11 (caspase recruitment domain family member 11) on Chromosome 7. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Severe combined immunodeficiency due to CARD11 deficiency
CACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCGGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATATTAAGTTAAAAAAAAGTCCTGTACACTAAAGTATATATAGCATTTTACCTTTTGTCTAAGAAAGGGGTTATGAATATAAAAATATATATTTCCTTATATGCTAAACATAAACAATGGAAGTTTAAGCCATCAATTTTAAAAAAGATTATTTATAGGGCAGAGAGGGAAAATCCTGCGGTTGAGTCTACCCTTTCCATCCAAGTTTTTATGTCTTACTAAAAATGTATAGTTCCCTAAACAATATATACTATTGGCTTTTGTTTTAAAATTTCACATAAATGGTGTCATACTGTACGTTTCCTTTTTCAGCATGTTTTTCTCCCTCTACATTTTTTTTTGAGATTTATCTAGATGGATACATATAGATCTAAGTCATTCGTTTTTAAAAATAGCTTTATTGTGATGTAATTCACATAGCATACAAGTTACCTTTTTAATATGTTCAATTCAATGATTTTAGTATATTCACAGAGCTGTGCAACCACCACCACAATCAATTTAAAATCATTTCCGTCATTTCAAAAAGAAGCTCCTCACCCTTTATTAGCCACTCTCAATTTCCCTCTAATCCCTGCTCCTCCAGCCCTGTGTAACCACTCGTTCACCTTCTGTCTGTATAGATTTGTCTTTTCCGTACATTTTATACAAGTGAAATCCTACAATTTATGGTCTTTCATGTCTGGCTTCTTTCACTCAGCAACTTTTCAAGGTTTGTTCCTGTTGTAGCATGTATCAGGACTTCACTTATTTTAAATTGCTCAGTGATTTTTTCATTGCATGGACATGCCCCATTTTGCTTGTCTGTTCATCCACTAATGGACATTTGAGTTATTTCTACCTTTTGTCTATTATGAACAATGCTGCTATGAACATTCATGTAAAAGTTTTTGTGTGACTGTATGTTTTTATTTCCCTTGGGTAGATACGTAAGAGTGGATTGTTAGGCCATATGGCAACTCTATATTTAACATTTTGAGGAATTGCCAAATTGTTTTCCAAAGCAGCTGCATCATTTTACATTGCCACCAACAAGCCATGAGGGTTTTAATTCCTCCATATTCTTGCTAACAACTTGTTATTGTCTGTCTTTTTTATTACAGCTCTCCTACTGAGTGTGAAGTAGCATCTCATTGTGGTTTTGATTTGCATTTCCCTAATGACTAACGATGTTGAGCATCTTTTCATGTGCATATTGGCCATTTGTGTGCATTGAGAAATGTCTATTCAAATCCTTTGCCCATTTTAAAATTGTGTTGTTTGTCTTTTTATTATTGGGTTGTAGGATTTTGTTATGTATTCTGGATGCAAGCCACTTATCAGATATATGACTTGCAAATATTTTCTCCCACTCTGTCAGTTGTCTTTTCACTTTCTTAAAAGCATTGTTTGTAGCACAAAAGTTTCAAATTTTGAGGTAGTCCAATTTATTTATTTTTTCTTTTTTTCACTTGTGCTCTTGGCATGTATCCGAAACACCATTGTCTAACTCAAGATGATGAAGACTTACTCCTGTTTTTTGCCTTTGAATATTATACCTTAGTTCTTACATTGAGGATGATCCATTTTGAGTTAATTTTTGTGTATGGTGTGAGGTAGGGGTCCAGTTGCATTCTTTTATGTGTGGATGTCCAGTTGTCCAAGCACAGTTTGTTTGAAAAGACTACTCTTTCCCCATTGAATGATCTTGCTACCCTTGTTGACAATCAACTGACCATAAAAGTAAACATTTGTTTTTGCACTATTGATTCTATTCCATTGATCTATATGTGTATCCTTATGCCAGTACTACATTGTCTTGATTACCGAAGATTTGTAGATTTGT
CACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTATACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCGGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATATTAAGTTAAAAAAAAGTCCTGTACACTAAAGTATATATAGCATTTTACCTTTTGTCTAAGAAAGGGGTTATGAATATAAAAATATATATTTCCTTATATGCTAAACATAAACAATGGAAGTTTAAGCCATCAATTTTAAAAAAGATTATTTATAGGGCAGAGAGGGAAAATCCTGCGGTTGAGTCTACCCTTTCCATCCAAGTTTTTATGTCTTACTAAAAATGTATAGTTCCCTAAACAATATATACTATTGGCTTTTGTTTTAAAATTTCACATAAATGGTGTCATACTGTACGTTTCCTTTTTCAGCATGTTTTTCTCCCTCTACATTTTTTTTTGAGATTTATCTAGATGGATACATATAGATCTAAGTCATTCGTTTTTAAAAATAGCTTTATTGTGATGTAATTCACATAGCATACAAGTTACCTTTTTAATATGTTCAATTCAATGATTTTAGTATATTCACAGAGCTGTGCAACCACCACCACAATCAATTTAAAATCATTTCCGTCATTTCAAAAAGAAGCTCCTCACCCTTTATTAGCCACTCTCAATTTCCCTCTAATCCCTGCTCCTCCAGCCCTGTGTAACCACTCGTTCACCTTCTGTCTGTATAGATTTGTCTTTTCCGTACATTTTATACAAGTGAAATCCTACAATTTATGGTCTTTCATGTCTGGCTTCTTTCACTCAGCAACTTTTCAAGGTTTGTTCCTGTTGTAGCATGTATCAGGACTTCACTTATTTTAAATTGCTCAGTGATTTTTTCATTGCATGGACATGCCCCATTTTGCTTGTCTGTTCATCCACTAATGGACATTTGAGTTATTTCTACCTTTTGTCTATTATGAACAATGCTGCTATGAACATTCATGTAAAAGTTTTTGTGTGACTGTATGTTTTTATTTCCCTTGGGTAGATACGTAAGAGTGGATTGTTAGGCCATATGGCAACTCTATATTTAACATTTTGAGGAATTGCCAAATTGTTTTCCAAAGCAGCTGCATCATTTTACATTGCCACCAACAAGCCATGAGGGTTTTAATTCCTCCATATTCTTGCTAACAACTTGTTATTGTCTGTCTTTTTTATTACAGCTCTCCTACTGAGTGTGAAGTAGCATCTCATTGTGGTTTTGATTTGCATTTCCCTAATGACTAACGATGTTGAGCATCTTTTCATGTGCATATTGGCCATTTGTGTGCATTGAGAAATGTCTATTCAAATCCTTTGCCCATTTTAAAATTGTGTTGTTTGTCTTTTTATTATTGGGTTGTAGGATTTTGTTATGTATTCTGGATGCAAGCCACTTATCAGATATATGACTTGCAAATATTTTCTCCCACTCTGTCAGTTGTCTTTTCACTTTCTTAAAAGCATTGTTTGTAGCACAAAAGTTTCAAATTTTGAGGTAGTCCAATTTATTTATTTTTTCTTTTTTTCACTTGTGCTCTTGGCATGTATCCGAAACACCATTGTCTAACTCAAGATGATGAAGACTTACTCCTGTTTTTTGCCTTTGAATATTATACCTTAGTTCTTACATTGAGGATGATCCATTTTGAGTTAATTTTTGTGTATGGTGTGAGGTAGGGGTCCAGTTGCATTCTTTTATGTGTGGATGTCCAGTTGTCCAAGCACAGTTTGTTTGAAAAGACTACTCTTTCCCCATTGAATGATCTTGCTACCCTTGTTGACAATCAACTGACCATAAAAGTAAACATTTGTTTTTGCACTATTGATTCTATTCCATTGATCTATATGTGTATCCTTATGCCAGTACTACATTGTCTTGATTACCGAAGATTTGTAGATTTGT
Task1_train_10921
Mutation context: Chromosome 7, Gene CARD11 (caspase recruitment domain family member 11). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; BENTA disease
CACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCGGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATATTAAGTTAAAAAAAAGTCCTGTACACTAAAGTATATATAGCATTTTACCTTTTGTCTAAGAAAGGGGTTATGAATATAAAAATATATATTTCCTTATATGCTAAACATAAACAATGGAAGTTTAAGCCATCAATTTTAAAAAAGATTATTTATAGGGCAGAGAGGGAAAATCCTGCGGTTGAGTCTACCCTTTCCATCCAAGTTTTTATGTCTTACTAAAAATGTATAGTTCCCTAAACAATATATACTATTGGCTTTTGTTTTAAAATTTCACATAAATGGTGTCATACTGTACGTTTCCTTTTTCAGCATGTTTTTCTCCCTCTACATTTTTTTTTGAGATTTATCTAGATGGATACATATAGATCTAAGTCATTCGTTTTTAAAAATAGCTTTATTGTGATGTAATTCACATAGCATACAAGTTACCTTTTTAATATGTTCAATTCAATGATTTTAGTATATTCACAGAGCTGTGCAACCACCACCACAATCAATTTAAAATCATTTCCGTCATTTCAAAAAGAAGCTCCTCACCCTTTATTAGCCACTCTCAATTTCCCTCTAATCCCTGCTCCTCCAGCCCTGTGTAACCACTCGTTCACCTTCTGTCTGTATAGATTTGTCTTTTCCGTACATTTTATACAAGTGAAATCCTACAATTTATGGTCTTTCATGTCTGGCTTCTTTCACTCAGCAACTTTTCAAGGTTTGTTCCTGTTGTAGCATGTATCAGGACTTCACTTATTTTAAATTGCTCAGTGATTTTTTCATTGCATGGACATGCCCCATTTTGCTTGTCTGTTCATCCACTAATGGACATTTGAGTTATTTCTACCTTTTGTCTATTATGAACAATGCTGCTATGAACATTCATGTAAAAGTTTTTGTGTGACTGTATGTTTTTATTTCCCTTGGGTAGATACGTAAGAGTGGATTGTTAGGCCATATGGCAACTCTATATTTAACATTTTGAGGAATTGCCAAATTGTTTTCCAAAGCAGCTGCATCATTTTACATTGCCACCAACAAGCCATGAGGGTTTTAATTCCTCCATATTCTTGCTAACAACTTGTTATTGTCTGTCTTTTTTATTACAGCTCTCCTACTGAGTGTGAAGTAGCATCTCATTGTGGTTTTGATTTGCATTTCCCTAATGACTAACGATGTTGAGCATCTTTTCATGTGCATATTGGCCATTTGTGTGCATTGAGAAATGTCTATTCAAATCCTTTGCCCATTTTAAAATTGTGTTGTTTGTCTTTTTATTATTGGGTTGTAGGATTTTGTTATGTATTCTGGATGCAAGCCACTTATCAGATATATGACTTGCAAATATTTTCTCCCACTCTGTCAGTTGTCTTTTCACTTTCTTAAAAGCATTGTTTGTAGCACAAAAGTTTCAAATTTTGAGGTAGTCCAATTTATTTATTTTTTCTTTTTTTCACTTGTGCTCTTGGCATGTATCCGAAACACCATTGTCTAACTCAAGATGATGAAGACTTACTCCTGTTTTTTGCCTTTGAATATTATACCTTAGTTCTTACATTGAGGATGATCCATTTTGAGTTAATTTTTGTGTATGGTGTGAGGTAGGGGTCCAGTTGCATTCTTTTATGTGTGGATGTCCAGTTGTCCAAGCACAGTTTGTTTGAAAAGACTACTCTTTCCCCATTGAATGATCTTGCTACCCTTGTTGACAATCAACTGACCATAAAAGTAAACATTTGTTTTTGCACTATTGATTCTATTCCATTGATCTATATGTGTATCCTTATGCCAGTACTACATTGTCTTGATTACCGAAGATTTGTAGATTTGT
CACTTCTCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTATACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCGGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATATTAAGTTAAAAAAAAGTCCTGTACACTAAAGTATATATAGCATTTTACCTTTTGTCTAAGAAAGGGGTTATGAATATAAAAATATATATTTCCTTATATGCTAAACATAAACAATGGAAGTTTAAGCCATCAATTTTAAAAAAGATTATTTATAGGGCAGAGAGGGAAAATCCTGCGGTTGAGTCTACCCTTTCCATCCAAGTTTTTATGTCTTACTAAAAATGTATAGTTCCCTAAACAATATATACTATTGGCTTTTGTTTTAAAATTTCACATAAATGGTGTCATACTGTACGTTTCCTTTTTCAGCATGTTTTTCTCCCTCTACATTTTTTTTTGAGATTTATCTAGATGGATACATATAGATCTAAGTCATTCGTTTTTAAAAATAGCTTTATTGTGATGTAATTCACATAGCATACAAGTTACCTTTTTAATATGTTCAATTCAATGATTTTAGTATATTCACAGAGCTGTGCAACCACCACCACAATCAATTTAAAATCATTTCCGTCATTTCAAAAAGAAGCTCCTCACCCTTTATTAGCCACTCTCAATTTCCCTCTAATCCCTGCTCCTCCAGCCCTGTGTAACCACTCGTTCACCTTCTGTCTGTATAGATTTGTCTTTTCCGTACATTTTATACAAGTGAAATCCTACAATTTATGGTCTTTCATGTCTGGCTTCTTTCACTCAGCAACTTTTCAAGGTTTGTTCCTGTTGTAGCATGTATCAGGACTTCACTTATTTTAAATTGCTCAGTGATTTTTTCATTGCATGGACATGCCCCATTTTGCTTGTCTGTTCATCCACTAATGGACATTTGAGTTATTTCTACCTTTTGTCTATTATGAACAATGCTGCTATGAACATTCATGTAAAAGTTTTTGTGTGACTGTATGTTTTTATTTCCCTTGGGTAGATACGTAAGAGTGGATTGTTAGGCCATATGGCAACTCTATATTTAACATTTTGAGGAATTGCCAAATTGTTTTCCAAAGCAGCTGCATCATTTTACATTGCCACCAACAAGCCATGAGGGTTTTAATTCCTCCATATTCTTGCTAACAACTTGTTATTGTCTGTCTTTTTTATTACAGCTCTCCTACTGAGTGTGAAGTAGCATCTCATTGTGGTTTTGATTTGCATTTCCCTAATGACTAACGATGTTGAGCATCTTTTCATGTGCATATTGGCCATTTGTGTGCATTGAGAAATGTCTATTCAAATCCTTTGCCCATTTTAAAATTGTGTTGTTTGTCTTTTTATTATTGGGTTGTAGGATTTTGTTATGTATTCTGGATGCAAGCCACTTATCAGATATATGACTTGCAAATATTTTCTCCCACTCTGTCAGTTGTCTTTTCACTTTCTTAAAAGCATTGTTTGTAGCACAAAAGTTTCAAATTTTGAGGTAGTCCAATTTATTTATTTTTTCTTTTTTTCACTTGTGCTCTTGGCATGTATCCGAAACACCATTGTCTAACTCAAGATGATGAAGACTTACTCCTGTTTTTTGCCTTTGAATATTATACCTTAGTTCTTACATTGAGGATGATCCATTTTGAGTTAATTTTTGTGTATGGTGTGAGGTAGGGGTCCAGTTGCATTCTTTTATGTGTGGATGTCCAGTTGTCCAAGCACAGTTTGTTTGAAAAGACTACTCTTTCCCCATTGAATGATCTTGCTACCCTTGTTGACAATCAACTGACCATAAAAGTAAACATTTGTTTTTGCACTATTGATTCTATTCCATTGATCTATATGTGTATCCTTATGCCAGTACTACATTGTCTTGATTACCGAAGATTTGTAGATTTGT
Task1_train_10922
A mutation on Chromosome 7 affecting CARD11 (caspase recruitment domain family member 11) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; BENTA disease
TCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCGGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATATTAAGTTAAAAAAAAGTCCTGTACACTAAAGTATATATAGCATTTTACCTTTTGTCTAAGAAAGGGGTTATGAATATAAAAATATATATTTCCTTATATGCTAAACATAAACAATGGAAGTTTAAGCCATCAATTTTAAAAAAGATTATTTATAGGGCAGAGAGGGAAAATCCTGCGGTTGAGTCTACCCTTTCCATCCAAGTTTTTATGTCTTACTAAAAATGTATAGTTCCCTAAACAATATATACTATTGGCTTTTGTTTTAAAATTTCACATAAATGGTGTCATACTGTACGTTTCCTTTTTCAGCATGTTTTTCTCCCTCTACATTTTTTTTTGAGATTTATCTAGATGGATACATATAGATCTAAGTCATTCGTTTTTAAAAATAGCTTTATTGTGATGTAATTCACATAGCATACAAGTTACCTTTTTAATATGTTCAATTCAATGATTTTAGTATATTCACAGAGCTGTGCAACCACCACCACAATCAATTTAAAATCATTTCCGTCATTTCAAAAAGAAGCTCCTCACCCTTTATTAGCCACTCTCAATTTCCCTCTAATCCCTGCTCCTCCAGCCCTGTGTAACCACTCGTTCACCTTCTGTCTGTATAGATTTGTCTTTTCCGTACATTTTATACAAGTGAAATCCTACAATTTATGGTCTTTCATGTCTGGCTTCTTTCACTCAGCAACTTTTCAAGGTTTGTTCCTGTTGTAGCATGTATCAGGACTTCACTTATTTTAAATTGCTCAGTGATTTTTTCATTGCATGGACATGCCCCATTTTGCTTGTCTGTTCATCCACTAATGGACATTTGAGTTATTTCTACCTTTTGTCTATTATGAACAATGCTGCTATGAACATTCATGTAAAAGTTTTTGTGTGACTGTATGTTTTTATTTCCCTTGGGTAGATACGTAAGAGTGGATTGTTAGGCCATATGGCAACTCTATATTTAACATTTTGAGGAATTGCCAAATTGTTTTCCAAAGCAGCTGCATCATTTTACATTGCCACCAACAAGCCATGAGGGTTTTAATTCCTCCATATTCTTGCTAACAACTTGTTATTGTCTGTCTTTTTTATTACAGCTCTCCTACTGAGTGTGAAGTAGCATCTCATTGTGGTTTTGATTTGCATTTCCCTAATGACTAACGATGTTGAGCATCTTTTCATGTGCATATTGGCCATTTGTGTGCATTGAGAAATGTCTATTCAAATCCTTTGCCCATTTTAAAATTGTGTTGTTTGTCTTTTTATTATTGGGTTGTAGGATTTTGTTATGTATTCTGGATGCAAGCCACTTATCAGATATATGACTTGCAAATATTTTCTCCCACTCTGTCAGTTGTCTTTTCACTTTCTTAAAAGCATTGTTTGTAGCACAAAAGTTTCAAATTTTGAGGTAGTCCAATTTATTTATTTTTTCTTTTTTTCACTTGTGCTCTTGGCATGTATCCGAAACACCATTGTCTAACTCAAGATGATGAAGACTTACTCCTGTTTTTTGCCTTTGAATATTATACCTTAGTTCTTACATTGAGGATGATCCATTTTGAGTTAATTTTTGTGTATGGTGTGAGGTAGGGGTCCAGTTGCATTCTTTTATGTGTGGATGTCCAGTTGTCCAAGCACAGTTTGTTTGAAAAGACTACTCTTTCCCCATTGAATGATCTTGCTACCCTTGTTGACAATCAACTGACCATAAAAGTAAACATTTGTTTTTGCACTATTGATTCTATTCCATTGATCTATATGTGTATCCTTATGCCAGTACTACATTGTCTTGATTACCGAAGATTTGTAGATTTGTAGTAGG
TCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGATGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCGGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATATTAAGTTAAAAAAAAGTCCTGTACACTAAAGTATATATAGCATTTTACCTTTTGTCTAAGAAAGGGGTTATGAATATAAAAATATATATTTCCTTATATGCTAAACATAAACAATGGAAGTTTAAGCCATCAATTTTAAAAAAGATTATTTATAGGGCAGAGAGGGAAAATCCTGCGGTTGAGTCTACCCTTTCCATCCAAGTTTTTATGTCTTACTAAAAATGTATAGTTCCCTAAACAATATATACTATTGGCTTTTGTTTTAAAATTTCACATAAATGGTGTCATACTGTACGTTTCCTTTTTCAGCATGTTTTTCTCCCTCTACATTTTTTTTTGAGATTTATCTAGATGGATACATATAGATCTAAGTCATTCGTTTTTAAAAATAGCTTTATTGTGATGTAATTCACATAGCATACAAGTTACCTTTTTAATATGTTCAATTCAATGATTTTAGTATATTCACAGAGCTGTGCAACCACCACCACAATCAATTTAAAATCATTTCCGTCATTTCAAAAAGAAGCTCCTCACCCTTTATTAGCCACTCTCAATTTCCCTCTAATCCCTGCTCCTCCAGCCCTGTGTAACCACTCGTTCACCTTCTGTCTGTATAGATTTGTCTTTTCCGTACATTTTATACAAGTGAAATCCTACAATTTATGGTCTTTCATGTCTGGCTTCTTTCACTCAGCAACTTTTCAAGGTTTGTTCCTGTTGTAGCATGTATCAGGACTTCACTTATTTTAAATTGCTCAGTGATTTTTTCATTGCATGGACATGCCCCATTTTGCTTGTCTGTTCATCCACTAATGGACATTTGAGTTATTTCTACCTTTTGTCTATTATGAACAATGCTGCTATGAACATTCATGTAAAAGTTTTTGTGTGACTGTATGTTTTTATTTCCCTTGGGTAGATACGTAAGAGTGGATTGTTAGGCCATATGGCAACTCTATATTTAACATTTTGAGGAATTGCCAAATTGTTTTCCAAAGCAGCTGCATCATTTTACATTGCCACCAACAAGCCATGAGGGTTTTAATTCCTCCATATTCTTGCTAACAACTTGTTATTGTCTGTCTTTTTTATTACAGCTCTCCTACTGAGTGTGAAGTAGCATCTCATTGTGGTTTTGATTTGCATTTCCCTAATGACTAACGATGTTGAGCATCTTTTCATGTGCATATTGGCCATTTGTGTGCATTGAGAAATGTCTATTCAAATCCTTTGCCCATTTTAAAATTGTGTTGTTTGTCTTTTTATTATTGGGTTGTAGGATTTTGTTATGTATTCTGGATGCAAGCCACTTATCAGATATATGACTTGCAAATATTTTCTCCCACTCTGTCAGTTGTCTTTTCACTTTCTTAAAAGCATTGTTTGTAGCACAAAAGTTTCAAATTTTGAGGTAGTCCAATTTATTTATTTTTTCTTTTTTTCACTTGTGCTCTTGGCATGTATCCGAAACACCATTGTCTAACTCAAGATGATGAAGACTTACTCCTGTTTTTTGCCTTTGAATATTATACCTTAGTTCTTACATTGAGGATGATCCATTTTGAGTTAATTTTTGTGTATGGTGTGAGGTAGGGGTCCAGTTGCATTCTTTTATGTGTGGATGTCCAGTTGTCCAAGCACAGTTTGTTTGAAAAGACTACTCTTTCCCCATTGAATGATCTTGCTACCCTTGTTGACAATCAACTGACCATAAAAGTAAACATTTGTTTTTGCACTATTGATTCTATTCCATTGATCTATATGTGTATCCTTATGCCAGTACTACATTGTCTTGATTACCGAAGATTTGTAGATTTGTAGTAGG
Task1_train_10923
This variant lies on Chromosome 7 and affects the gene CARD11 (caspase recruitment domain family member 11). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Severe combined immunodeficiency due to CARD11 deficiency
TCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCGGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATATTAAGTTAAAAAAAAGTCCTGTACACTAAAGTATATATAGCATTTTACCTTTTGTCTAAGAAAGGGGTTATGAATATAAAAATATATATTTCCTTATATGCTAAACATAAACAATGGAAGTTTAAGCCATCAATTTTAAAAAAGATTATTTATAGGGCAGAGAGGGAAAATCCTGCGGTTGAGTCTACCCTTTCCATCCAAGTTTTTATGTCTTACTAAAAATGTATAGTTCCCTAAACAATATATACTATTGGCTTTTGTTTTAAAATTTCACATAAATGGTGTCATACTGTACGTTTCCTTTTTCAGCATGTTTTTCTCCCTCTACATTTTTTTTTGAGATTTATCTAGATGGATACATATAGATCTAAGTCATTCGTTTTTAAAAATAGCTTTATTGTGATGTAATTCACATAGCATACAAGTTACCTTTTTAATATGTTCAATTCAATGATTTTAGTATATTCACAGAGCTGTGCAACCACCACCACAATCAATTTAAAATCATTTCCGTCATTTCAAAAAGAAGCTCCTCACCCTTTATTAGCCACTCTCAATTTCCCTCTAATCCCTGCTCCTCCAGCCCTGTGTAACCACTCGTTCACCTTCTGTCTGTATAGATTTGTCTTTTCCGTACATTTTATACAAGTGAAATCCTACAATTTATGGTCTTTCATGTCTGGCTTCTTTCACTCAGCAACTTTTCAAGGTTTGTTCCTGTTGTAGCATGTATCAGGACTTCACTTATTTTAAATTGCTCAGTGATTTTTTCATTGCATGGACATGCCCCATTTTGCTTGTCTGTTCATCCACTAATGGACATTTGAGTTATTTCTACCTTTTGTCTATTATGAACAATGCTGCTATGAACATTCATGTAAAAGTTTTTGTGTGACTGTATGTTTTTATTTCCCTTGGGTAGATACGTAAGAGTGGATTGTTAGGCCATATGGCAACTCTATATTTAACATTTTGAGGAATTGCCAAATTGTTTTCCAAAGCAGCTGCATCATTTTACATTGCCACCAACAAGCCATGAGGGTTTTAATTCCTCCATATTCTTGCTAACAACTTGTTATTGTCTGTCTTTTTTATTACAGCTCTCCTACTGAGTGTGAAGTAGCATCTCATTGTGGTTTTGATTTGCATTTCCCTAATGACTAACGATGTTGAGCATCTTTTCATGTGCATATTGGCCATTTGTGTGCATTGAGAAATGTCTATTCAAATCCTTTGCCCATTTTAAAATTGTGTTGTTTGTCTTTTTATTATTGGGTTGTAGGATTTTGTTATGTATTCTGGATGCAAGCCACTTATCAGATATATGACTTGCAAATATTTTCTCCCACTCTGTCAGTTGTCTTTTCACTTTCTTAAAAGCATTGTTTGTAGCACAAAAGTTTCAAATTTTGAGGTAGTCCAATTTATTTATTTTTTCTTTTTTTCACTTGTGCTCTTGGCATGTATCCGAAACACCATTGTCTAACTCAAGATGATGAAGACTTACTCCTGTTTTTTGCCTTTGAATATTATACCTTAGTTCTTACATTGAGGATGATCCATTTTGAGTTAATTTTTGTGTATGGTGTGAGGTAGGGGTCCAGTTGCATTCTTTTATGTGTGGATGTCCAGTTGTCCAAGCACAGTTTGTTTGAAAAGACTACTCTTTCCCCATTGAATGATCTTGCTACCCTTGTTGACAATCAACTGACCATAAAAGTAAACATTTGTTTTTGCACTATTGATTCTATTCCATTGATCTATATGTGTATCCTTATGCCAGTACTACATTGTCTTGATTACCGAAGATTTGTAGATTTGTAGTAGG
TCTTGGTTCCTGCTTCCCTTTGCCCCTGTTAACCTTTCATCATCAAGCAAAATAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGATGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCGGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATATTAAGTTAAAAAAAAGTCCTGTACACTAAAGTATATATAGCATTTTACCTTTTGTCTAAGAAAGGGGTTATGAATATAAAAATATATATTTCCTTATATGCTAAACATAAACAATGGAAGTTTAAGCCATCAATTTTAAAAAAGATTATTTATAGGGCAGAGAGGGAAAATCCTGCGGTTGAGTCTACCCTTTCCATCCAAGTTTTTATGTCTTACTAAAAATGTATAGTTCCCTAAACAATATATACTATTGGCTTTTGTTTTAAAATTTCACATAAATGGTGTCATACTGTACGTTTCCTTTTTCAGCATGTTTTTCTCCCTCTACATTTTTTTTTGAGATTTATCTAGATGGATACATATAGATCTAAGTCATTCGTTTTTAAAAATAGCTTTATTGTGATGTAATTCACATAGCATACAAGTTACCTTTTTAATATGTTCAATTCAATGATTTTAGTATATTCACAGAGCTGTGCAACCACCACCACAATCAATTTAAAATCATTTCCGTCATTTCAAAAAGAAGCTCCTCACCCTTTATTAGCCACTCTCAATTTCCCTCTAATCCCTGCTCCTCCAGCCCTGTGTAACCACTCGTTCACCTTCTGTCTGTATAGATTTGTCTTTTCCGTACATTTTATACAAGTGAAATCCTACAATTTATGGTCTTTCATGTCTGGCTTCTTTCACTCAGCAACTTTTCAAGGTTTGTTCCTGTTGTAGCATGTATCAGGACTTCACTTATTTTAAATTGCTCAGTGATTTTTTCATTGCATGGACATGCCCCATTTTGCTTGTCTGTTCATCCACTAATGGACATTTGAGTTATTTCTACCTTTTGTCTATTATGAACAATGCTGCTATGAACATTCATGTAAAAGTTTTTGTGTGACTGTATGTTTTTATTTCCCTTGGGTAGATACGTAAGAGTGGATTGTTAGGCCATATGGCAACTCTATATTTAACATTTTGAGGAATTGCCAAATTGTTTTCCAAAGCAGCTGCATCATTTTACATTGCCACCAACAAGCCATGAGGGTTTTAATTCCTCCATATTCTTGCTAACAACTTGTTATTGTCTGTCTTTTTTATTACAGCTCTCCTACTGAGTGTGAAGTAGCATCTCATTGTGGTTTTGATTTGCATTTCCCTAATGACTAACGATGTTGAGCATCTTTTCATGTGCATATTGGCCATTTGTGTGCATTGAGAAATGTCTATTCAAATCCTTTGCCCATTTTAAAATTGTGTTGTTTGTCTTTTTATTATTGGGTTGTAGGATTTTGTTATGTATTCTGGATGCAAGCCACTTATCAGATATATGACTTGCAAATATTTTCTCCCACTCTGTCAGTTGTCTTTTCACTTTCTTAAAAGCATTGTTTGTAGCACAAAAGTTTCAAATTTTGAGGTAGTCCAATTTATTTATTTTTTCTTTTTTTCACTTGTGCTCTTGGCATGTATCCGAAACACCATTGTCTAACTCAAGATGATGAAGACTTACTCCTGTTTTTTGCCTTTGAATATTATACCTTAGTTCTTACATTGAGGATGATCCATTTTGAGTTAATTTTTGTGTATGGTGTGAGGTAGGGGTCCAGTTGCATTCTTTTATGTGTGGATGTCCAGTTGTCCAAGCACAGTTTGTTTGAAAAGACTACTCTTTCCCCATTGAATGATCTTGCTACCCTTGTTGACAATCAACTGACCATAAAAGTAAACATTTGTTTTTGCACTATTGATTCTATTCCATTGATCTATATGTGTATCCTTATGCCAGTACTACATTGTCTTGATTACCGAAGATTTGTAGATTTGTAGTAGG
Task1_train_10924
A variant was discovered in gene CARD11 (caspase recruitment domain family member 11), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; BENTA disease
TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCGGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATATTAAGTTAAAAAAAAGTCCTGTACACTAAAGTATATATAGCATTTTACCTTTTGTCTAAGAAAGGGGTTATGAATATAAAAATATATATTTCCTTATATGCTAAACATAAACAATGGAAGTTTAAGCCATCAATTTTAAAAAAGATTATTTATAGGGCAGAGAGGGAAAATCCTGCGGTTGAGTCTACCCTTTCCATCCAAGTTTTTATGTCTTACTAAAAATGTATAGTTCCCTAAACAATATATACTATTGGCTTTTGTTTTAAAATTTCACATAAATGGTGTCATACTGTACGTTTCCTTTTTCAGCATGTTTTTCTCCCTCTACATTTTTTTTTGAGATTTATCTAGATGGATACATATAGATCTAAGTCATTCGTTTTTAAAAATAGCTTTATTGTGATGTAATTCACATAGCATACAAGTTACCTTTTTAATATGTTCAATTCAATGATTTTAGTATATTCACAGAGCTGTGCAACCACCACCACAATCAATTTAAAATCATTTCCGTCATTTCAAAAAGAAGCTCCTCACCCTTTATTAGCCACTCTCAATTTCCCTCTAATCCCTGCTCCTCCAGCCCTGTGTAACCACTCGTTCACCTTCTGTCTGTATAGATTTGTCTTTTCCGTACATTTTATACAAGTGAAATCCTACAATTTATGGTCTTTCATGTCTGGCTTCTTTCACTCAGCAACTTTTCAAGGTTTGTTCCTGTTGTAGCATGTATCAGGACTTCACTTATTTTAAATTGCTCAGTGATTTTTTCATTGCATGGACATGCCCCATTTTGCTTGTCTGTTCATCCACTAATGGACATTTGAGTTATTTCTACCTTTTGTCTATTATGAACAATGCTGCTATGAACATTCATGTAAAAGTTTTTGTGTGACTGTATGTTTTTATTTCCCTTGGGTAGATACGTAAGAGTGGATTGTTAGGCCATATGGCAACTCTATATTTAACATTTTGAGGAATTGCCAAATTGTTTTCCAAAGCAGCTGCATCATTTTACATTGCCACCAACAAGCCATGAGGGTTTTAATTCCTCCATATTCTTGCTAACAACTTGTTATTGTCTGTCTTTTTTATTACAGCTCTCCTACTGAGTGTGAAGTAGCATCTCATTGTGGTTTTGATTTGCATTTCCCTAATGACTAACGATGTTGAGCATCTTTTCATGTGCATATTGGCCATTTGTGTGCATTGAGAAATGTCTATTCAAATCCTTTGCCCATTTTAAAATTGTGTTGTTTGTCTTTTTATTATTGGGTTGTAGGATTTTGTTATGTATTCTGGATGCAAGCCACTTATCAGATATATGACTTGCAAATATTTTCTCCCACTCTGTCAGTTGTCTTTTCACTTTCTTAAAAGCATTGTTTGTAGCACAAAAGTTTCAAATTTTGAGGTAGTCCAATTTATTTATTTTTTCTTTTTTTCACTTGTGCTCTTGGCATGTATCCGAAACACCATTGTCTAACTCAAGATGATGAAGACTTACTCCTGTTTTTTGCCTTTGAATATTATACCTTAGTTCTTACATTGAGGATGATCCATTTTGAGTTAATTTTTGTGTATGGTGTGAGGTAGGGGTCCAGTTGCATTCTTTTATGTGTGGATGTCCAGTTGTCCAAGCACAGTTTGTTTGAAAAGACTACTCTTTCCCCATTGAATGATCTTGCTACCCTTGTTGACAATCAACTGACCATAAAAGTAAACATTTGTTTTTGCACTATTGATTCTATTCCATTGATCTATATGTGTATCCTTATGCCAGTACTACATTGTCTTGATTACCGAAGATTTGTAGATTTGTAGTAGGCCTTGAAATTGGGAGTATGGGTCTCCCAACCTTGTTCTTTTTCAAGATTGTT
TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCAGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATATTAAGTTAAAAAAAAGTCCTGTACACTAAAGTATATATAGCATTTTACCTTTTGTCTAAGAAAGGGGTTATGAATATAAAAATATATATTTCCTTATATGCTAAACATAAACAATGGAAGTTTAAGCCATCAATTTTAAAAAAGATTATTTATAGGGCAGAGAGGGAAAATCCTGCGGTTGAGTCTACCCTTTCCATCCAAGTTTTTATGTCTTACTAAAAATGTATAGTTCCCTAAACAATATATACTATTGGCTTTTGTTTTAAAATTTCACATAAATGGTGTCATACTGTACGTTTCCTTTTTCAGCATGTTTTTCTCCCTCTACATTTTTTTTTGAGATTTATCTAGATGGATACATATAGATCTAAGTCATTCGTTTTTAAAAATAGCTTTATTGTGATGTAATTCACATAGCATACAAGTTACCTTTTTAATATGTTCAATTCAATGATTTTAGTATATTCACAGAGCTGTGCAACCACCACCACAATCAATTTAAAATCATTTCCGTCATTTCAAAAAGAAGCTCCTCACCCTTTATTAGCCACTCTCAATTTCCCTCTAATCCCTGCTCCTCCAGCCCTGTGTAACCACTCGTTCACCTTCTGTCTGTATAGATTTGTCTTTTCCGTACATTTTATACAAGTGAAATCCTACAATTTATGGTCTTTCATGTCTGGCTTCTTTCACTCAGCAACTTTTCAAGGTTTGTTCCTGTTGTAGCATGTATCAGGACTTCACTTATTTTAAATTGCTCAGTGATTTTTTCATTGCATGGACATGCCCCATTTTGCTTGTCTGTTCATCCACTAATGGACATTTGAGTTATTTCTACCTTTTGTCTATTATGAACAATGCTGCTATGAACATTCATGTAAAAGTTTTTGTGTGACTGTATGTTTTTATTTCCCTTGGGTAGATACGTAAGAGTGGATTGTTAGGCCATATGGCAACTCTATATTTAACATTTTGAGGAATTGCCAAATTGTTTTCCAAAGCAGCTGCATCATTTTACATTGCCACCAACAAGCCATGAGGGTTTTAATTCCTCCATATTCTTGCTAACAACTTGTTATTGTCTGTCTTTTTTATTACAGCTCTCCTACTGAGTGTGAAGTAGCATCTCATTGTGGTTTTGATTTGCATTTCCCTAATGACTAACGATGTTGAGCATCTTTTCATGTGCATATTGGCCATTTGTGTGCATTGAGAAATGTCTATTCAAATCCTTTGCCCATTTTAAAATTGTGTTGTTTGTCTTTTTATTATTGGGTTGTAGGATTTTGTTATGTATTCTGGATGCAAGCCACTTATCAGATATATGACTTGCAAATATTTTCTCCCACTCTGTCAGTTGTCTTTTCACTTTCTTAAAAGCATTGTTTGTAGCACAAAAGTTTCAAATTTTGAGGTAGTCCAATTTATTTATTTTTTCTTTTTTTCACTTGTGCTCTTGGCATGTATCCGAAACACCATTGTCTAACTCAAGATGATGAAGACTTACTCCTGTTTTTTGCCTTTGAATATTATACCTTAGTTCTTACATTGAGGATGATCCATTTTGAGTTAATTTTTGTGTATGGTGTGAGGTAGGGGTCCAGTTGCATTCTTTTATGTGTGGATGTCCAGTTGTCCAAGCACAGTTTGTTTGAAAAGACTACTCTTTCCCCATTGAATGATCTTGCTACCCTTGTTGACAATCAACTGACCATAAAAGTAAACATTTGTTTTTGCACTATTGATTCTATTCCATTGATCTATATGTGTATCCTTATGCCAGTACTACATTGTCTTGATTACCGAAGATTTGTAGATTTGTAGTAGGCCTTGAAATTGGGAGTATGGGTCTCCCAACCTTGTTCTTTTTCAAGATTGTT
Task1_train_10925
A variant found in Chromosome 7 affects CARD11 (caspase recruitment domain family member 11). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Severe combined immunodeficiency due to CARD11 deficiency
TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCGGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATATTAAGTTAAAAAAAAGTCCTGTACACTAAAGTATATATAGCATTTTACCTTTTGTCTAAGAAAGGGGTTATGAATATAAAAATATATATTTCCTTATATGCTAAACATAAACAATGGAAGTTTAAGCCATCAATTTTAAAAAAGATTATTTATAGGGCAGAGAGGGAAAATCCTGCGGTTGAGTCTACCCTTTCCATCCAAGTTTTTATGTCTTACTAAAAATGTATAGTTCCCTAAACAATATATACTATTGGCTTTTGTTTTAAAATTTCACATAAATGGTGTCATACTGTACGTTTCCTTTTTCAGCATGTTTTTCTCCCTCTACATTTTTTTTTGAGATTTATCTAGATGGATACATATAGATCTAAGTCATTCGTTTTTAAAAATAGCTTTATTGTGATGTAATTCACATAGCATACAAGTTACCTTTTTAATATGTTCAATTCAATGATTTTAGTATATTCACAGAGCTGTGCAACCACCACCACAATCAATTTAAAATCATTTCCGTCATTTCAAAAAGAAGCTCCTCACCCTTTATTAGCCACTCTCAATTTCCCTCTAATCCCTGCTCCTCCAGCCCTGTGTAACCACTCGTTCACCTTCTGTCTGTATAGATTTGTCTTTTCCGTACATTTTATACAAGTGAAATCCTACAATTTATGGTCTTTCATGTCTGGCTTCTTTCACTCAGCAACTTTTCAAGGTTTGTTCCTGTTGTAGCATGTATCAGGACTTCACTTATTTTAAATTGCTCAGTGATTTTTTCATTGCATGGACATGCCCCATTTTGCTTGTCTGTTCATCCACTAATGGACATTTGAGTTATTTCTACCTTTTGTCTATTATGAACAATGCTGCTATGAACATTCATGTAAAAGTTTTTGTGTGACTGTATGTTTTTATTTCCCTTGGGTAGATACGTAAGAGTGGATTGTTAGGCCATATGGCAACTCTATATTTAACATTTTGAGGAATTGCCAAATTGTTTTCCAAAGCAGCTGCATCATTTTACATTGCCACCAACAAGCCATGAGGGTTTTAATTCCTCCATATTCTTGCTAACAACTTGTTATTGTCTGTCTTTTTTATTACAGCTCTCCTACTGAGTGTGAAGTAGCATCTCATTGTGGTTTTGATTTGCATTTCCCTAATGACTAACGATGTTGAGCATCTTTTCATGTGCATATTGGCCATTTGTGTGCATTGAGAAATGTCTATTCAAATCCTTTGCCCATTTTAAAATTGTGTTGTTTGTCTTTTTATTATTGGGTTGTAGGATTTTGTTATGTATTCTGGATGCAAGCCACTTATCAGATATATGACTTGCAAATATTTTCTCCCACTCTGTCAGTTGTCTTTTCACTTTCTTAAAAGCATTGTTTGTAGCACAAAAGTTTCAAATTTTGAGGTAGTCCAATTTATTTATTTTTTCTTTTTTTCACTTGTGCTCTTGGCATGTATCCGAAACACCATTGTCTAACTCAAGATGATGAAGACTTACTCCTGTTTTTTGCCTTTGAATATTATACCTTAGTTCTTACATTGAGGATGATCCATTTTGAGTTAATTTTTGTGTATGGTGTGAGGTAGGGGTCCAGTTGCATTCTTTTATGTGTGGATGTCCAGTTGTCCAAGCACAGTTTGTTTGAAAAGACTACTCTTTCCCCATTGAATGATCTTGCTACCCTTGTTGACAATCAACTGACCATAAAAGTAAACATTTGTTTTTGCACTATTGATTCTATTCCATTGATCTATATGTGTATCCTTATGCCAGTACTACATTGTCTTGATTACCGAAGATTTGTAGATTTGTAGTAGGCCTTGAAATTGGGAGTATGGGTCTCCCAACCTTGTTCTTTTTCAAGATTGTT
TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCAGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATATTAAGTTAAAAAAAAGTCCTGTACACTAAAGTATATATAGCATTTTACCTTTTGTCTAAGAAAGGGGTTATGAATATAAAAATATATATTTCCTTATATGCTAAACATAAACAATGGAAGTTTAAGCCATCAATTTTAAAAAAGATTATTTATAGGGCAGAGAGGGAAAATCCTGCGGTTGAGTCTACCCTTTCCATCCAAGTTTTTATGTCTTACTAAAAATGTATAGTTCCCTAAACAATATATACTATTGGCTTTTGTTTTAAAATTTCACATAAATGGTGTCATACTGTACGTTTCCTTTTTCAGCATGTTTTTCTCCCTCTACATTTTTTTTTGAGATTTATCTAGATGGATACATATAGATCTAAGTCATTCGTTTTTAAAAATAGCTTTATTGTGATGTAATTCACATAGCATACAAGTTACCTTTTTAATATGTTCAATTCAATGATTTTAGTATATTCACAGAGCTGTGCAACCACCACCACAATCAATTTAAAATCATTTCCGTCATTTCAAAAAGAAGCTCCTCACCCTTTATTAGCCACTCTCAATTTCCCTCTAATCCCTGCTCCTCCAGCCCTGTGTAACCACTCGTTCACCTTCTGTCTGTATAGATTTGTCTTTTCCGTACATTTTATACAAGTGAAATCCTACAATTTATGGTCTTTCATGTCTGGCTTCTTTCACTCAGCAACTTTTCAAGGTTTGTTCCTGTTGTAGCATGTATCAGGACTTCACTTATTTTAAATTGCTCAGTGATTTTTTCATTGCATGGACATGCCCCATTTTGCTTGTCTGTTCATCCACTAATGGACATTTGAGTTATTTCTACCTTTTGTCTATTATGAACAATGCTGCTATGAACATTCATGTAAAAGTTTTTGTGTGACTGTATGTTTTTATTTCCCTTGGGTAGATACGTAAGAGTGGATTGTTAGGCCATATGGCAACTCTATATTTAACATTTTGAGGAATTGCCAAATTGTTTTCCAAAGCAGCTGCATCATTTTACATTGCCACCAACAAGCCATGAGGGTTTTAATTCCTCCATATTCTTGCTAACAACTTGTTATTGTCTGTCTTTTTTATTACAGCTCTCCTACTGAGTGTGAAGTAGCATCTCATTGTGGTTTTGATTTGCATTTCCCTAATGACTAACGATGTTGAGCATCTTTTCATGTGCATATTGGCCATTTGTGTGCATTGAGAAATGTCTATTCAAATCCTTTGCCCATTTTAAAATTGTGTTGTTTGTCTTTTTATTATTGGGTTGTAGGATTTTGTTATGTATTCTGGATGCAAGCCACTTATCAGATATATGACTTGCAAATATTTTCTCCCACTCTGTCAGTTGTCTTTTCACTTTCTTAAAAGCATTGTTTGTAGCACAAAAGTTTCAAATTTTGAGGTAGTCCAATTTATTTATTTTTTCTTTTTTTCACTTGTGCTCTTGGCATGTATCCGAAACACCATTGTCTAACTCAAGATGATGAAGACTTACTCCTGTTTTTTGCCTTTGAATATTATACCTTAGTTCTTACATTGAGGATGATCCATTTTGAGTTAATTTTTGTGTATGGTGTGAGGTAGGGGTCCAGTTGCATTCTTTTATGTGTGGATGTCCAGTTGTCCAAGCACAGTTTGTTTGAAAAGACTACTCTTTCCCCATTGAATGATCTTGCTACCCTTGTTGACAATCAACTGACCATAAAAGTAAACATTTGTTTTTGCACTATTGATTCTATTCCATTGATCTATATGTGTATCCTTATGCCAGTACTACATTGTCTTGATTACCGAAGATTTGTAGATTTGTAGTAGGCCTTGAAATTGGGAGTATGGGTCTCCCAACCTTGTTCTTTTTCAAGATTGTT
Task1_train_10926
Here is a mutation in CARD11 (caspase recruitment domain family member 11) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Immunodeficiency 11b with atopic dermatitis
TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCGGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATATTAAGTTAAAAAAAAGTCCTGTACACTAAAGTATATATAGCATTTTACCTTTTGTCTAAGAAAGGGGTTATGAATATAAAAATATATATTTCCTTATATGCTAAACATAAACAATGGAAGTTTAAGCCATCAATTTTAAAAAAGATTATTTATAGGGCAGAGAGGGAAAATCCTGCGGTTGAGTCTACCCTTTCCATCCAAGTTTTTATGTCTTACTAAAAATGTATAGTTCCCTAAACAATATATACTATTGGCTTTTGTTTTAAAATTTCACATAAATGGTGTCATACTGTACGTTTCCTTTTTCAGCATGTTTTTCTCCCTCTACATTTTTTTTTGAGATTTATCTAGATGGATACATATAGATCTAAGTCATTCGTTTTTAAAAATAGCTTTATTGTGATGTAATTCACATAGCATACAAGTTACCTTTTTAATATGTTCAATTCAATGATTTTAGTATATTCACAGAGCTGTGCAACCACCACCACAATCAATTTAAAATCATTTCCGTCATTTCAAAAAGAAGCTCCTCACCCTTTATTAGCCACTCTCAATTTCCCTCTAATCCCTGCTCCTCCAGCCCTGTGTAACCACTCGTTCACCTTCTGTCTGTATAGATTTGTCTTTTCCGTACATTTTATACAAGTGAAATCCTACAATTTATGGTCTTTCATGTCTGGCTTCTTTCACTCAGCAACTTTTCAAGGTTTGTTCCTGTTGTAGCATGTATCAGGACTTCACTTATTTTAAATTGCTCAGTGATTTTTTCATTGCATGGACATGCCCCATTTTGCTTGTCTGTTCATCCACTAATGGACATTTGAGTTATTTCTACCTTTTGTCTATTATGAACAATGCTGCTATGAACATTCATGTAAAAGTTTTTGTGTGACTGTATGTTTTTATTTCCCTTGGGTAGATACGTAAGAGTGGATTGTTAGGCCATATGGCAACTCTATATTTAACATTTTGAGGAATTGCCAAATTGTTTTCCAAAGCAGCTGCATCATTTTACATTGCCACCAACAAGCCATGAGGGTTTTAATTCCTCCATATTCTTGCTAACAACTTGTTATTGTCTGTCTTTTTTATTACAGCTCTCCTACTGAGTGTGAAGTAGCATCTCATTGTGGTTTTGATTTGCATTTCCCTAATGACTAACGATGTTGAGCATCTTTTCATGTGCATATTGGCCATTTGTGTGCATTGAGAAATGTCTATTCAAATCCTTTGCCCATTTTAAAATTGTGTTGTTTGTCTTTTTATTATTGGGTTGTAGGATTTTGTTATGTATTCTGGATGCAAGCCACTTATCAGATATATGACTTGCAAATATTTTCTCCCACTCTGTCAGTTGTCTTTTCACTTTCTTAAAAGCATTGTTTGTAGCACAAAAGTTTCAAATTTTGAGGTAGTCCAATTTATTTATTTTTTCTTTTTTTCACTTGTGCTCTTGGCATGTATCCGAAACACCATTGTCTAACTCAAGATGATGAAGACTTACTCCTGTTTTTTGCCTTTGAATATTATACCTTAGTTCTTACATTGAGGATGATCCATTTTGAGTTAATTTTTGTGTATGGTGTGAGGTAGGGGTCCAGTTGCATTCTTTTATGTGTGGATGTCCAGTTGTCCAAGCACAGTTTGTTTGAAAAGACTACTCTTTCCCCATTGAATGATCTTGCTACCCTTGTTGACAATCAACTGACCATAAAAGTAAACATTTGTTTTTGCACTATTGATTCTATTCCATTGATCTATATGTGTATCCTTATGCCAGTACTACATTGTCTTGATTACCGAAGATTTGTAGATTTGTAGTAGGCCTTGAAATTGGGAGTATGGGTCTCCCAACCTTGTTCTTTTTCAAGATTGTT
TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCAGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATATTAAGTTAAAAAAAAGTCCTGTACACTAAAGTATATATAGCATTTTACCTTTTGTCTAAGAAAGGGGTTATGAATATAAAAATATATATTTCCTTATATGCTAAACATAAACAATGGAAGTTTAAGCCATCAATTTTAAAAAAGATTATTTATAGGGCAGAGAGGGAAAATCCTGCGGTTGAGTCTACCCTTTCCATCCAAGTTTTTATGTCTTACTAAAAATGTATAGTTCCCTAAACAATATATACTATTGGCTTTTGTTTTAAAATTTCACATAAATGGTGTCATACTGTACGTTTCCTTTTTCAGCATGTTTTTCTCCCTCTACATTTTTTTTTGAGATTTATCTAGATGGATACATATAGATCTAAGTCATTCGTTTTTAAAAATAGCTTTATTGTGATGTAATTCACATAGCATACAAGTTACCTTTTTAATATGTTCAATTCAATGATTTTAGTATATTCACAGAGCTGTGCAACCACCACCACAATCAATTTAAAATCATTTCCGTCATTTCAAAAAGAAGCTCCTCACCCTTTATTAGCCACTCTCAATTTCCCTCTAATCCCTGCTCCTCCAGCCCTGTGTAACCACTCGTTCACCTTCTGTCTGTATAGATTTGTCTTTTCCGTACATTTTATACAAGTGAAATCCTACAATTTATGGTCTTTCATGTCTGGCTTCTTTCACTCAGCAACTTTTCAAGGTTTGTTCCTGTTGTAGCATGTATCAGGACTTCACTTATTTTAAATTGCTCAGTGATTTTTTCATTGCATGGACATGCCCCATTTTGCTTGTCTGTTCATCCACTAATGGACATTTGAGTTATTTCTACCTTTTGTCTATTATGAACAATGCTGCTATGAACATTCATGTAAAAGTTTTTGTGTGACTGTATGTTTTTATTTCCCTTGGGTAGATACGTAAGAGTGGATTGTTAGGCCATATGGCAACTCTATATTTAACATTTTGAGGAATTGCCAAATTGTTTTCCAAAGCAGCTGCATCATTTTACATTGCCACCAACAAGCCATGAGGGTTTTAATTCCTCCATATTCTTGCTAACAACTTGTTATTGTCTGTCTTTTTTATTACAGCTCTCCTACTGAGTGTGAAGTAGCATCTCATTGTGGTTTTGATTTGCATTTCCCTAATGACTAACGATGTTGAGCATCTTTTCATGTGCATATTGGCCATTTGTGTGCATTGAGAAATGTCTATTCAAATCCTTTGCCCATTTTAAAATTGTGTTGTTTGTCTTTTTATTATTGGGTTGTAGGATTTTGTTATGTATTCTGGATGCAAGCCACTTATCAGATATATGACTTGCAAATATTTTCTCCCACTCTGTCAGTTGTCTTTTCACTTTCTTAAAAGCATTGTTTGTAGCACAAAAGTTTCAAATTTTGAGGTAGTCCAATTTATTTATTTTTTCTTTTTTTCACTTGTGCTCTTGGCATGTATCCGAAACACCATTGTCTAACTCAAGATGATGAAGACTTACTCCTGTTTTTTGCCTTTGAATATTATACCTTAGTTCTTACATTGAGGATGATCCATTTTGAGTTAATTTTTGTGTATGGTGTGAGGTAGGGGTCCAGTTGCATTCTTTTATGTGTGGATGTCCAGTTGTCCAAGCACAGTTTGTTTGAAAAGACTACTCTTTCCCCATTGAATGATCTTGCTACCCTTGTTGACAATCAACTGACCATAAAAGTAAACATTTGTTTTTGCACTATTGATTCTATTCCATTGATCTATATGTGTATCCTTATGCCAGTACTACATTGTCTTGATTACCGAAGATTTGTAGATTTGTAGTAGGCCTTGAAATTGGGAGTATGGGTCTCCCAACCTTGTTCTTTTTCAAGATTGTT
Task1_train_10927
Here is a genetic alteration in CARD11 (caspase recruitment domain family member 11) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; BENTA disease
TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCGGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATATTAAGTTAAAAAAAAGTCCTGTACACTAAAGTATATATAGCATTTTACCTTTTGTCTAAGAAAGGGGTTATGAATATAAAAATATATATTTCCTTATATGCTAAACATAAACAATGGAAGTTTAAGCCATCAATTTTAAAAAAGATTATTTATAGGGCAGAGAGGGAAAATCCTGCGGTTGAGTCTACCCTTTCCATCCAAGTTTTTATGTCTTACTAAAAATGTATAGTTCCCTAAACAATATATACTATTGGCTTTTGTTTTAAAATTTCACATAAATGGTGTCATACTGTACGTTTCCTTTTTCAGCATGTTTTTCTCCCTCTACATTTTTTTTTGAGATTTATCTAGATGGATACATATAGATCTAAGTCATTCGTTTTTAAAAATAGCTTTATTGTGATGTAATTCACATAGCATACAAGTTACCTTTTTAATATGTTCAATTCAATGATTTTAGTATATTCACAGAGCTGTGCAACCACCACCACAATCAATTTAAAATCATTTCCGTCATTTCAAAAAGAAGCTCCTCACCCTTTATTAGCCACTCTCAATTTCCCTCTAATCCCTGCTCCTCCAGCCCTGTGTAACCACTCGTTCACCTTCTGTCTGTATAGATTTGTCTTTTCCGTACATTTTATACAAGTGAAATCCTACAATTTATGGTCTTTCATGTCTGGCTTCTTTCACTCAGCAACTTTTCAAGGTTTGTTCCTGTTGTAGCATGTATCAGGACTTCACTTATTTTAAATTGCTCAGTGATTTTTTCATTGCATGGACATGCCCCATTTTGCTTGTCTGTTCATCCACTAATGGACATTTGAGTTATTTCTACCTTTTGTCTATTATGAACAATGCTGCTATGAACATTCATGTAAAAGTTTTTGTGTGACTGTATGTTTTTATTTCCCTTGGGTAGATACGTAAGAGTGGATTGTTAGGCCATATGGCAACTCTATATTTAACATTTTGAGGAATTGCCAAATTGTTTTCCAAAGCAGCTGCATCATTTTACATTGCCACCAACAAGCCATGAGGGTTTTAATTCCTCCATATTCTTGCTAACAACTTGTTATTGTCTGTCTTTTTTATTACAGCTCTCCTACTGAGTGTGAAGTAGCATCTCATTGTGGTTTTGATTTGCATTTCCCTAATGACTAACGATGTTGAGCATCTTTTCATGTGCATATTGGCCATTTGTGTGCATTGAGAAATGTCTATTCAAATCCTTTGCCCATTTTAAAATTGTGTTGTTTGTCTTTTTATTATTGGGTTGTAGGATTTTGTTATGTATTCTGGATGCAAGCCACTTATCAGATATATGACTTGCAAATATTTTCTCCCACTCTGTCAGTTGTCTTTTCACTTTCTTAAAAGCATTGTTTGTAGCACAAAAGTTTCAAATTTTGAGGTAGTCCAATTTATTTATTTTTTCTTTTTTTCACTTGTGCTCTTGGCATGTATCCGAAACACCATTGTCTAACTCAAGATGATGAAGACTTACTCCTGTTTTTTGCCTTTGAATATTATACCTTAGTTCTTACATTGAGGATGATCCATTTTGAGTTAATTTTTGTGTATGGTGTGAGGTAGGGGTCCAGTTGCATTCTTTTATGTGTGGATGTCCAGTTGTCCAAGCACAGTTTGTTTGAAAAGACTACTCTTTCCCCATTGAATGATCTTGCTACCCTTGTTGACAATCAACTGACCATAAAAGTAAACATTTGTTTTTGCACTATTGATTCTATTCCATTGATCTATATGTGTATCCTTATGCCAGTACTACATTGTCTTGATTACCGAAGATTTGTAGATTTGTAGTAGGCCTTGAAATTGGGAGTATGGGTCTCCCAACCTTGTTCTTTTTCAAGATTGTT
TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCAGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATATTAAGTTAAAAAAAAGTCCTGTACACTAAAGTATATATAGCATTTTACCTTTTGTCTAAGAAAGGGGTTATGAATATAAAAATATATATTTCCTTATATGCTAAACATAAACAATGGAAGTTTAAGCCATCAATTTTAAAAAAGATTATTTATAGGGCAGAGAGGGAAAATCCTGCGGTTGAGTCTACCCTTTCCATCCAAGTTTTTATGTCTTACTAAAAATGTATAGTTCCCTAAACAATATATACTATTGGCTTTTGTTTTAAAATTTCACATAAATGGTGTCATACTGTACGTTTCCTTTTTCAGCATGTTTTTCTCCCTCTACATTTTTTTTTGAGATTTATCTAGATGGATACATATAGATCTAAGTCATTCGTTTTTAAAAATAGCTTTATTGTGATGTAATTCACATAGCATACAAGTTACCTTTTTAATATGTTCAATTCAATGATTTTAGTATATTCACAGAGCTGTGCAACCACCACCACAATCAATTTAAAATCATTTCCGTCATTTCAAAAAGAAGCTCCTCACCCTTTATTAGCCACTCTCAATTTCCCTCTAATCCCTGCTCCTCCAGCCCTGTGTAACCACTCGTTCACCTTCTGTCTGTATAGATTTGTCTTTTCCGTACATTTTATACAAGTGAAATCCTACAATTTATGGTCTTTCATGTCTGGCTTCTTTCACTCAGCAACTTTTCAAGGTTTGTTCCTGTTGTAGCATGTATCAGGACTTCACTTATTTTAAATTGCTCAGTGATTTTTTCATTGCATGGACATGCCCCATTTTGCTTGTCTGTTCATCCACTAATGGACATTTGAGTTATTTCTACCTTTTGTCTATTATGAACAATGCTGCTATGAACATTCATGTAAAAGTTTTTGTGTGACTGTATGTTTTTATTTCCCTTGGGTAGATACGTAAGAGTGGATTGTTAGGCCATATGGCAACTCTATATTTAACATTTTGAGGAATTGCCAAATTGTTTTCCAAAGCAGCTGCATCATTTTACATTGCCACCAACAAGCCATGAGGGTTTTAATTCCTCCATATTCTTGCTAACAACTTGTTATTGTCTGTCTTTTTTATTACAGCTCTCCTACTGAGTGTGAAGTAGCATCTCATTGTGGTTTTGATTTGCATTTCCCTAATGACTAACGATGTTGAGCATCTTTTCATGTGCATATTGGCCATTTGTGTGCATTGAGAAATGTCTATTCAAATCCTTTGCCCATTTTAAAATTGTGTTGTTTGTCTTTTTATTATTGGGTTGTAGGATTTTGTTATGTATTCTGGATGCAAGCCACTTATCAGATATATGACTTGCAAATATTTTCTCCCACTCTGTCAGTTGTCTTTTCACTTTCTTAAAAGCATTGTTTGTAGCACAAAAGTTTCAAATTTTGAGGTAGTCCAATTTATTTATTTTTTCTTTTTTTCACTTGTGCTCTTGGCATGTATCCGAAACACCATTGTCTAACTCAAGATGATGAAGACTTACTCCTGTTTTTTGCCTTTGAATATTATACCTTAGTTCTTACATTGAGGATGATCCATTTTGAGTTAATTTTTGTGTATGGTGTGAGGTAGGGGTCCAGTTGCATTCTTTTATGTGTGGATGTCCAGTTGTCCAAGCACAGTTTGTTTGAAAAGACTACTCTTTCCCCATTGAATGATCTTGCTACCCTTGTTGACAATCAACTGACCATAAAAGTAAACATTTGTTTTTGCACTATTGATTCTATTCCATTGATCTATATGTGTATCCTTATGCCAGTACTACATTGTCTTGATTACCGAAGATTTGTAGATTTGTAGTAGGCCTTGAAATTGGGAGTATGGGTCTCCCAACCTTGTTCTTTTTCAAGATTGTT
Task1_train_10928
Gene CARD11 (caspase recruitment domain family member 11) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Severe combined immunodeficiency due to CARD11 deficiency
TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCGGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATATTAAGTTAAAAAAAAGTCCTGTACACTAAAGTATATATAGCATTTTACCTTTTGTCTAAGAAAGGGGTTATGAATATAAAAATATATATTTCCTTATATGCTAAACATAAACAATGGAAGTTTAAGCCATCAATTTTAAAAAAGATTATTTATAGGGCAGAGAGGGAAAATCCTGCGGTTGAGTCTACCCTTTCCATCCAAGTTTTTATGTCTTACTAAAAATGTATAGTTCCCTAAACAATATATACTATTGGCTTTTGTTTTAAAATTTCACATAAATGGTGTCATACTGTACGTTTCCTTTTTCAGCATGTTTTTCTCCCTCTACATTTTTTTTTGAGATTTATCTAGATGGATACATATAGATCTAAGTCATTCGTTTTTAAAAATAGCTTTATTGTGATGTAATTCACATAGCATACAAGTTACCTTTTTAATATGTTCAATTCAATGATTTTAGTATATTCACAGAGCTGTGCAACCACCACCACAATCAATTTAAAATCATTTCCGTCATTTCAAAAAGAAGCTCCTCACCCTTTATTAGCCACTCTCAATTTCCCTCTAATCCCTGCTCCTCCAGCCCTGTGTAACCACTCGTTCACCTTCTGTCTGTATAGATTTGTCTTTTCCGTACATTTTATACAAGTGAAATCCTACAATTTATGGTCTTTCATGTCTGGCTTCTTTCACTCAGCAACTTTTCAAGGTTTGTTCCTGTTGTAGCATGTATCAGGACTTCACTTATTTTAAATTGCTCAGTGATTTTTTCATTGCATGGACATGCCCCATTTTGCTTGTCTGTTCATCCACTAATGGACATTTGAGTTATTTCTACCTTTTGTCTATTATGAACAATGCTGCTATGAACATTCATGTAAAAGTTTTTGTGTGACTGTATGTTTTTATTTCCCTTGGGTAGATACGTAAGAGTGGATTGTTAGGCCATATGGCAACTCTATATTTAACATTTTGAGGAATTGCCAAATTGTTTTCCAAAGCAGCTGCATCATTTTACATTGCCACCAACAAGCCATGAGGGTTTTAATTCCTCCATATTCTTGCTAACAACTTGTTATTGTCTGTCTTTTTTATTACAGCTCTCCTACTGAGTGTGAAGTAGCATCTCATTGTGGTTTTGATTTGCATTTCCCTAATGACTAACGATGTTGAGCATCTTTTCATGTGCATATTGGCCATTTGTGTGCATTGAGAAATGTCTATTCAAATCCTTTGCCCATTTTAAAATTGTGTTGTTTGTCTTTTTATTATTGGGTTGTAGGATTTTGTTATGTATTCTGGATGCAAGCCACTTATCAGATATATGACTTGCAAATATTTTCTCCCACTCTGTCAGTTGTCTTTTCACTTTCTTAAAAGCATTGTTTGTAGCACAAAAGTTTCAAATTTTGAGGTAGTCCAATTTATTTATTTTTTCTTTTTTTCACTTGTGCTCTTGGCATGTATCCGAAACACCATTGTCTAACTCAAGATGATGAAGACTTACTCCTGTTTTTTGCCTTTGAATATTATACCTTAGTTCTTACATTGAGGATGATCCATTTTGAGTTAATTTTTGTGTATGGTGTGAGGTAGGGGTCCAGTTGCATTCTTTTATGTGTGGATGTCCAGTTGTCCAAGCACAGTTTGTTTGAAAAGACTACTCTTTCCCCATTGAATGATCTTGCTACCCTTGTTGACAATCAACTGACCATAAAAGTAAACATTTGTTTTTGCACTATTGATTCTATTCCATTGATCTATATGTGTATCCTTATGCCAGTACTACATTGTCTTGATTACCGAAGATTTGTAGATTTGTAGTAGGCCTTGAAATTGGGAGTATGGGTCTCCCAACCTTGTTCTTTTTCAAGATTGTT
TAAGTGGTTGACAGACCCCAGTTCTATATGTCATAGATTCACAGCTTAAGAACCATGCCACTACTGAGGACACACACACACACACACACACACACAGACACACACACACACACGCCCCTCCTCTTAGAGTCCAGATGTTCCCAATGGCAAAAGCACTTACCCACAATGGTGGAGAATCTCCGAGTGGGCTCTTTCCCAGTCACCAGTTTGTACAGTTCTGGGTAATAAAATTCTAGGCTCTCCAAGAAGACCACATAGCCCCTTTGCCCCTTGGTATGTAGAATGTCCAACAGCCGGCCTAGGGGAAAGACCAGATCACTCTGTGAGAATACATATCTGATGGAACGCAAGTCTCTGTGGCTGGTCTCATCCTGGACTTGTGTCCTTCAATCAACTCTAAGAAGACAGTCTCCCCACATTCTATCACTTCTGAGTTGTATCTTGGAGCCCAGATGACGTAAATCAAGGTGCCAGGCCCTCCGCAGGGATTTGGTGAGCGTTAGTTTTCTGTTTCTAATAAACTGGTAGAACCAGGATAAATGGAATTGCCGCCCCAGTTTTGAAGAGTTTCCCAACTGACCAGGGCCAAAATGAACCACGTAGGCACCAGGTCTTCTATGACTGAAGGAGGTTGGAAGCACGATAAAAATTATGGAATAATATATGGTTCTCTGGGATTGAGAGCAGGAAGACAAATCTTTGGGTGAGAGGCTAGGAAAAATCATAGGAAGTAGGGATAGTTCTAGGTTTTTCTTTGGGATTATTACACAACCTGGAAACACCTTAAATGTAATTTCCCCAGCAGGTCCCAGTTTCTATACTATTGATTCCACTTATTGCTTACATTTCTGGGCCCTTCCTTAAACATTTTATTTTCAGATATTCTTCTGAGATATAGAAGAAGAAAGGTAGGTCTTAAAACTCGACCTTTTCCCTAGGACGGACAGAAGAAATAAATTTGATGGTATGTCAACCCCGATTGTTTGGTGAAGCCGCCTGCAGTACTGTTTCGAGAAACATTCCAAAGTTACATCCAAGCTCAGTGGGAAAGCATGCTGATTACTGATGTCTGCCATGGATGCCAGAGAGTCGCAGCTGATGAGCCACTTACCACCAGCCACGCTGGGGGACAGTGATTATCAAACCTTCTAAACTGATCCATAGAAAGAAAAACATTTAACATTGTGGTCTAGTGACCATAGACAAAGATAACTCTACAAGTACATGTGTATACACATGTACATAATGTAAAATTAAAACAAGCTTCACAAACCATATTTATTACCTTTACTGAATATGATAAACCCCCCCTCCAGAAGTCAGGCTAGAAAAGCTTGTGGAACCCTTCTCGGAATATTTTTAAACAGATAAAGTACATCAGATTACAAAAGAAACCAATTATAATAAAATCCAGTTATCAAATATTAAATAAATTTGTGTTTCAGTAACATACTTCTTTATTAATGCATTAAATAACAAGACCTCTCGGCAGGTCTAATAAGTACTGTAATTTTGAAAGAGAGATGAGTGTAAGTGGCATTTTGAGAGATTTGCAGTAACTGTAGTGATAGGAAGAGATCTGTAATTTTCATTGTTGCCTAAGTCACAAGAATTACTAATCACTCCTGTAATTTGTGGCTTCCTGACATTTGCAATTGAGGGCAATGCTGAATTGCAGTTGAGGTTGGTAAAATAAAGATGGCATTTCTTCCCCCCTCCCAGTTTATGGATCCTTTGAGTTCCATACACAGACAGCTTGAGTTCTATACACAAATGAGTAGGTGATGGACTGCGGACCCCAGTTTAAAAATCCCTGACCTAGAGCAACTTCATTTTGGTACAGCTACCAAAGGGTATGTCTGGAAGTTGCCGTGTGCGGTAGCCCTCCCTCTCCCGCAAAGAGGTCCTAAGGTTACCTGCTCGGTTGATCTTGGATGGCAGCATAGGGGCATTAAGCACTTCATCTTCATCCTGCTCATCAATGACCTTACACTGACGCAGGTAGGGCGTGAGCTTGGCAGGGTTGATATAGCGGCTGAGCATGTGCCAGTTACACTCCACATTCTCCCACAAGGCGTCCTCTTCATCCTTCAGCGTCTCCATGTAGTCATCCATCTCTGGCCCTCCTCCTTTTAGACATAAACCCCAACAAGCTTAATAAAGCAGTCTCACTGGAACAGCTCTATCAACTCCTCTGGAGTGACCTCTAGAATATATTAAGTTAAAAAAAAGTCCTGTACACTAAAGTATATATAGCATTTTACCTTTTGTCTAAGAAAGGGGTTATGAATATAAAAATATATATTTCCTTATATGCTAAACATAAACAATGGAAGTTTAAGCCATCAATTTTAAAAAAGATTATTTATAGGGCAGAGAGGGAAAATCCTGCGGTTGAGTCTACCCTTTCCATCCAAGTTTTTATGTCTTACTAAAAATGTATAGTTCCCTAAACAATATATACTATTGGCTTTTGTTTTAAAATTTCACATAAATGGTGTCATACTGTACGTTTCCTTTTTCAGCATGTTTTTCTCCCTCTACATTTTTTTTTGAGATTTATCTAGATGGATACATATAGATCTAAGTCATTCGTTTTTAAAAATAGCTTTATTGTGATGTAATTCACATAGCATACAAGTTACCTTTTTAATATGTTCAATTCAATGATTTTAGTATATTCACAGAGCTGTGCAACCACCACCACAATCAATTTAAAATCATTTCCGTCATTTCAAAAAGAAGCTCCTCACCCTTTATTAGCCACTCTCAATTTCCCTCTAATCCCTGCTCCTCCAGCCCTGTGTAACCACTCGTTCACCTTCTGTCTGTATAGATTTGTCTTTTCCGTACATTTTATACAAGTGAAATCCTACAATTTATGGTCTTTCATGTCTGGCTTCTTTCACTCAGCAACTTTTCAAGGTTTGTTCCTGTTGTAGCATGTATCAGGACTTCACTTATTTTAAATTGCTCAGTGATTTTTTCATTGCATGGACATGCCCCATTTTGCTTGTCTGTTCATCCACTAATGGACATTTGAGTTATTTCTACCTTTTGTCTATTATGAACAATGCTGCTATGAACATTCATGTAAAAGTTTTTGTGTGACTGTATGTTTTTATTTCCCTTGGGTAGATACGTAAGAGTGGATTGTTAGGCCATATGGCAACTCTATATTTAACATTTTGAGGAATTGCCAAATTGTTTTCCAAAGCAGCTGCATCATTTTACATTGCCACCAACAAGCCATGAGGGTTTTAATTCCTCCATATTCTTGCTAACAACTTGTTATTGTCTGTCTTTTTTATTACAGCTCTCCTACTGAGTGTGAAGTAGCATCTCATTGTGGTTTTGATTTGCATTTCCCTAATGACTAACGATGTTGAGCATCTTTTCATGTGCATATTGGCCATTTGTGTGCATTGAGAAATGTCTATTCAAATCCTTTGCCCATTTTAAAATTGTGTTGTTTGTCTTTTTATTATTGGGTTGTAGGATTTTGTTATGTATTCTGGATGCAAGCCACTTATCAGATATATGACTTGCAAATATTTTCTCCCACTCTGTCAGTTGTCTTTTCACTTTCTTAAAAGCATTGTTTGTAGCACAAAAGTTTCAAATTTTGAGGTAGTCCAATTTATTTATTTTTTCTTTTTTTCACTTGTGCTCTTGGCATGTATCCGAAACACCATTGTCTAACTCAAGATGATGAAGACTTACTCCTGTTTTTTGCCTTTGAATATTATACCTTAGTTCTTACATTGAGGATGATCCATTTTGAGTTAATTTTTGTGTATGGTGTGAGGTAGGGGTCCAGTTGCATTCTTTTATGTGTGGATGTCCAGTTGTCCAAGCACAGTTTGTTTGAAAAGACTACTCTTTCCCCATTGAATGATCTTGCTACCCTTGTTGACAATCAACTGACCATAAAAGTAAACATTTGTTTTTGCACTATTGATTCTATTCCATTGATCTATATGTGTATCCTTATGCCAGTACTACATTGTCTTGATTACCGAAGATTTGTAGATTTGTAGTAGGCCTTGAAATTGGGAGTATGGGTCTCCCAACCTTGTTCTTTTTCAAGATTGTT
Task1_train_10929
A variant was discovered on Chromosome 7, affecting WIPI2 (WD repeat domain, phosphoinositide interacting 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Intellectual developmental disorder with short stature and variable skeletal anomalies
CAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCGGCTACTCGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCGGGAGTCGGAAGTTGCAGTGAGCCAAGGTCATGTCATTGCACTCCAGCTTGGGCAACAAGAGTGAGACTTCGTCTCAAAAAAAAAACTTACAGACTTTTTTTTCCTTTTGTAAATTGTTAGTTTAACTTTGAATTCAAGATGAAGGATTTATTACTTTATCTCCCCCTAAACTAATAAGACTGTCTGGCACAGAGGAAGGACGTGGTGGGTGGCATGTGTGCGTGTTTCACGCACGTGTGTGTGTCTCCCAGCTTGTGCTCACGCCCAGGGTAACAGCACCACCCGGGAGACCCCTGGCAATCTGATTCTGCCCGCACTCCCTGCAGGGAAAGCTGATTAGGCTGCTGGCTGTAGAGTGGACATGATGACAGCCAGTAGCTGCACCCTGAGATACAGTGACTAGGTGAAGTCACAGTAGAGACGTTCTTGCCTTACGCAGTTGAAACTAGGAAGTGGTCTGTTAACTGACATAGTTGGTTAGAATGGGAAATTATAAGACATCATATCTTGAGCATTTAAAAATTGTGTTCACGTCCAACTAATGTAGAGCTGGTCATCTTTCTTGCATAAGTTGTCTCAGCGATGCATCGTCTGCATGTCTACATTCATTTTCTTCCAAATGGAGCAGGAACTTGCAAAGTAATCTGAGTGCACAATAAAATGTTAGACCTTTTAAAACCCCCTTATTTTCATTTTACCTGTGCTGCACTCAGCATCAGTTTTAAAAAGCAAATCTTTCCAAATCTATTCACAGCACACTTGTCTTAGCTGTAGGTTAGCATTTGCCTAACACTAAACTAAATGGCCTGGTTAGAATTCCCAGTAGAGATGGGGTGAGTATGAGGGAGAGGTGCATCCGGCCTGGCTCCTTCTTGATTGTTGATGGAAAGCAGCTGTATCCTTGGCGCTTCTAACATTGGTCTGCATGGTGTTCTAGAAGGAACTAAGATTGTGAAGCCAACGCAGGGGTGGATCACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCCTGGTGGCAGTCACCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAAAATCACTTGAACCCGGAAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCCGGGTGACACAGCGAGACACTGACTCCAAAAAAATAAAATACAATAACAATAGAAGGAATGAGAGCGTCATAGTCCAGGAGTCAGTCAACTGGAGATTGGGGCAGGTATTGCACTGGCCGTTGCTTCACGTTTGGTTTCGTTTTGTCTCTCGCCTAGAGGCTGATAGTATGCCTGGAGGAGTCCCTGTACATCCACAACATTCGGGACATGAAGGTGCTGCATACGATCAGGGAGACGCCTCCAAACCCTGCAGGTGAGCTAACTTGTGAGGAGAGAATCCCATTTTTCTGATTTTGCCCTTGAAAGATAGCTATAGGTGAGAGAGATTTTTTCTTTTTATAGGTTCCGCAGATGAGACAGATTTTAAAAGTATTGATCCCAAACCAAGCTGCCTTCCTACTGATGCTGGTCATGTGACCACATAAGCTCATTGGTTTGATCAACTTTCAAGTTTGAGGTTACTGATCAGTTCAAACCAAAGGCCTTTAATCTCTTGACAATACTGGTATCACCTAAGGTGGGGATTTGGGGTTGCAGAACTTTCCTAACACAGCAAACAAGATTGTATCCAAGCTATTATTTGTTCCTAATGCTCTGTTAAATGAATGCTGAATTATGTCTGACATCCAAGAAGGAACTCTCAGGTGGAAGTTTGCATCTCGTCCTCCGTGTGTCATTTGCAGGCCTGTGTGCGCTGTCAATCAACAACGACAACTGCTACTTGGCGTACCCAGGGAGCGCGACCATCGGAGAGGTGCAGGTCTTCGATACCATTAATTTGGTGAGATGCCTTTCCTGCTCGAATAGCTCTCTAAAGTGTGGCTTTTTCCTGAAGAGGAGCACTGTGGTGTCCCTGGCATCCTGACTTGGCTCAGCAATACAACCGCTGCACTTTTTTGTTTGTTTGTTTGTTTTTGAGACAGGGTCTGGCTCTGTCGCCCATGCTGGAGTGCAGTGGTGCAGTCCTAGCTCACTGCAGCCTCAACCTCCTGGGCTCAATTGATCCTCCTGCCTCAGCCTCCCGAGGAGTTACAGTCATGCAACACCACACCCAGCTAATTTTTTATTTTTGTAGAGATGGAGTCTTGCTGGGTTGCCCAGGCTGGCCTCAAACTCCTGGCCTTAAGCCATCCTCCCGCCTCGGCCCCCTAAAGTGCTGGGACTACAGGCGGGTGCCCCGCGCCCAGCCCCACTGCTCTCTTCTCAGTAGCAGAGTAGGTCTGGCTCATTCTGCTTCTGGATCTGCTGCGGCGTTCAGAGCAGTGCTGAGCTCCTCGCCACGGGAATGTTTGAAGGAACATAGAAAACCTTAGGGATAAATTGCTTTGCTTTTTCTAAAGTTGGAGCAGCATTTCCTTGGATGCCCAGCCCCAGTAAATCAAGTGGGTTTGGCATTTGTTTGGACCGTAATGGTGTTTTAGGAACAGCTAATTGGCACTTGCGGACCAAGTGTCAGCCCTGGGGCGTGGGCGGTCACTGTGCGGTGGCCACTCTTTATTGGTGTCCCTTTTTCAGAGAGCTGCAAACATGATTCCGGCTCACGACAGTCCTTTAGCGGCACTGGCCTTTGACGCAAGTGGAACTAAACTTGCCACGGCTTCGGAGAAGGTGAGTCTGCTTTTCCCCGGGGGAGCACTGGTGCCAAGGCGTCCACAGACTTTTTCAGTTCTGTTCACACAGCCACCTTAGAGGCAAGGTCCTATACTTACCAGCTCCGGGAGAAGCAAAGACAGCCACCCACTTGTCAGGCCACAGGCGTGTACTGCCCGAGAGTGAGCGGAGCTTGCAGTGTGCCACTGGGACGGGAGAGCTGGTCCACATTTGTAGTAGAAAATACAGAAATGTCCAGAGGAGACAGAAGTGCCGTGTGTAACCACACCGCTCACCCAGTGTGTTTCTAAATGATGAAACTACCACATAACAGTAAAGAACCCAGACAGTGATGAAATGTGAAAAAGCAAAGACAGAATTCTATCCAGCCAGTCTGAACACATTTCAGTGTATTTCATTTTCTCTTTAGTCAACAAAATTGGGATCCTACTATGGGTATAATTTATCCTTTTTCACTCTGCATGACATTTGTCTAAGTTCAAAAACACTTGTAATGGCCGCGCAGTATTTAGTTGTGATTCATGTCAACATCACCCTTTTGGGACTTTGTTTCTAATATGTTGCTGCCGTAGGTAGTAGTGTATTTAAGTCATGTATCAATGTTTTATATGTATTTCTAACTATGAATTCAAGAGATTCCAGTAAGAAGAATGTCTGGCTTTAAAGGAGATGGCCTCTAAATGTCCCCGTGTACCTGTGACCGCGTGGCGAGGCTCCCTGGCCCCCAGGAGACTGAAGGCTCCTTGTTCTCTTCCTCATTTGGACTGTGCCTCTCTTTTCGTTTCAGTTCCTCTTTTCTTGAAAGTTGCGTCTTCCATTCTTCTGTCTTGAGGTCGCGTCTGTTCTCCCGCCTCCGTTTTCTCCGCTCTTCATTGGCCACCGATGACCTTTACTTTGATTTGGATATGATTTTGCTTCTCATTGAAATCCTAAAATAGCCTCCCCTTTCAAGCCATCTCTCCCCTCAAACTATTGACCAGAGAAGATACAATAAAACGTCGGCTCACTTCCTTAGCTTTCCTGCCTGGGCCTTTGTTCTTCAGTCTCACACCCGAGTTCTGTAATAATGATGTCACCGCTTATGGGTCACTTCTGGGTCGTGAATTATCCTGGATCTTTTATCTTCATTACCTCATTTGTTTCCCCTCAGCAAGGTAAACAGTTCTCTGTTTCATAGCAAGGGCTCAGAAAG
CAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCGGCTACTCGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCGGGAGTCGGAAGTTGCAGTGAGCCAAGGTCATGTCATTGCACTCCAGCTTGGGCAACAAGAGTGAGACTTCGTCTCAAAAAAAAAACTTACAGACTTTTTTTTCCTTTTGTAAATTGTTAGTTTAACTTTGAATTCAAGATGAAGGATTTATTACTTTATCTCCCCCTAAACTAATAAGACTGTCTGGCACAGAGGAAGGACGTGGTGGGTGGCATGTGTGCGTGTTTCACGCACGTGTGTGTGTCTCCCAGCTTGTGCTCACGCCCAGGGTAACAGCACCACCCGGGAGACCCCTGGCAATCTGATTCTGCCCGCACTCCCTGCAGGGAAAGCTGATTAGGCTGCTGGCTGTAGAGTGGACATGATGACAGCCAGTAGCTGCACCCTGAGATACAGTGACTAGGTGAAGTCACAGTAGAGACGTTCTTGCCTTACGCAGTTGAAACTAGGAAGTGGTCTGTTAACTGACATAGTTGGTTAGAATGGGAAATTATAAGACATCATATCTTGAGCATTTAAAAATTGTGTTCACGTCCAACTAATGTAGAGCTGGTCATCTTTCTTGCATAAGTTGTCTCAGCGATGCATCGTCTGCATGTCTACATTCATTTTCTTCCAAATGGAGCAGGAACTTGCAAAGTAATCTGAGTGCACAATAAAATGTTAGACCTTTTAAAACCCCCTTATTTTCATTTTACCTGTGCTGCACTCAGCATCAGTTTTAAAAAGCAAATCTTTCCAAATCTATTCACAGCACACTTGTCTTAGCTGTAGGTTAGCATTTGCCTAACACTAAACTAAATGGCCTGGTTAGAATTCCCAGTAGAGATGGGGTGAGTATGAGGGAGAGGTGCATCCGGCCTGGCTCCTTCTTGATTGTTGATGGAAAGCAGCTGTATCCTTGGCGCTTCTAACATTGGTCTGCATGGTGTTCTAGAAGGAACTAAGATTGTGAAGCCAACGCAGGGGTGGATCACCTGAGGTCAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCCTGGTGGCAGTCACCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAAAATCACTTGAACCCGGAAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCCGGGTGACACAGCGAGACACTGACTCCAAAAAAATAAAATACAATAACAATAGAAGGAATGAGAGCGTCATAGTCCAGGAGTCAGTCAACTGGAGATTGGGGCAGGTATTGCACTGGCCGTTGCTTCACGTTTGGTTTCGTTTTGTCTCTCGCCTAGAGGCTGATAGTATGCCTGGAGGAGTCCCTGTACATCCACAACATTCGGGACATGAAGGTGCTGCATACGATCAGGGAGACGCCTCCAAACCCTGCAGGTGAGCTAACTTGTGAGGAGAGAATCCCATTTTTCTGATTTTGCCCTTGAAAGATAGCTATAGGTGAGAGAGATTTTTTCTTTTTATAGGTTCCGCAGATGAGACAGATTTTAAAAGTATTGATCCCAAACCAAGCTGCCTTCCTACTGATGCTGGTCATGTGACCACATAAGCTCATTGGTTTGATCAACTTTCAAGTTTGAGGTTACTGATCAGTTCAAACCAAAGGCCTTTAATCTCTTGACAATACTGGTATCACCTAAGGTGGGGATTTGGGGTTGCAGAACTTTCCTAACACAGCAAACAAGATTGTATCCAAGCTATTATTTGTTCCTAATGCTCTGTTAAATGAATGCTGAATTATGTCTGACATCCAAGAAGGAACTCTCAGGTGGAAGTTTGCATCTCGTCCTCCGTGTGTCATTTGCAGGCCTGTGTGCGCTGTCAATCAACAACGACAACTGCTACTTGGCGTACCCAGGGAGCGCGACCATCGGAGAGGGGCAGGTCTTCGATACCATTAATTTGGTGAGATGCCTTTCCTGCTCGAATAGCTCTCTAAAGTGTGGCTTTTTCCTGAAGAGGAGCACTGTGGTGTCCCTGGCATCCTGACTTGGCTCAGCAATACAACCGCTGCACTTTTTTGTTTGTTTGTTTGTTTTTGAGACAGGGTCTGGCTCTGTCGCCCATGCTGGAGTGCAGTGGTGCAGTCCTAGCTCACTGCAGCCTCAACCTCCTGGGCTCAATTGATCCTCCTGCCTCAGCCTCCCGAGGAGTTACAGTCATGCAACACCACACCCAGCTAATTTTTTATTTTTGTAGAGATGGAGTCTTGCTGGGTTGCCCAGGCTGGCCTCAAACTCCTGGCCTTAAGCCATCCTCCCGCCTCGGCCCCCTAAAGTGCTGGGACTACAGGCGGGTGCCCCGCGCCCAGCCCCACTGCTCTCTTCTCAGTAGCAGAGTAGGTCTGGCTCATTCTGCTTCTGGATCTGCTGCGGCGTTCAGAGCAGTGCTGAGCTCCTCGCCACGGGAATGTTTGAAGGAACATAGAAAACCTTAGGGATAAATTGCTTTGCTTTTTCTAAAGTTGGAGCAGCATTTCCTTGGATGCCCAGCCCCAGTAAATCAAGTGGGTTTGGCATTTGTTTGGACCGTAATGGTGTTTTAGGAACAGCTAATTGGCACTTGCGGACCAAGTGTCAGCCCTGGGGCGTGGGCGGTCACTGTGCGGTGGCCACTCTTTATTGGTGTCCCTTTTTCAGAGAGCTGCAAACATGATTCCGGCTCACGACAGTCCTTTAGCGGCACTGGCCTTTGACGCAAGTGGAACTAAACTTGCCACGGCTTCGGAGAAGGTGAGTCTGCTTTTCCCCGGGGGAGCACTGGTGCCAAGGCGTCCACAGACTTTTTCAGTTCTGTTCACACAGCCACCTTAGAGGCAAGGTCCTATACTTACCAGCTCCGGGAGAAGCAAAGACAGCCACCCACTTGTCAGGCCACAGGCGTGTACTGCCCGAGAGTGAGCGGAGCTTGCAGTGTGCCACTGGGACGGGAGAGCTGGTCCACATTTGTAGTAGAAAATACAGAAATGTCCAGAGGAGACAGAAGTGCCGTGTGTAACCACACCGCTCACCCAGTGTGTTTCTAAATGATGAAACTACCACATAACAGTAAAGAACCCAGACAGTGATGAAATGTGAAAAAGCAAAGACAGAATTCTATCCAGCCAGTCTGAACACATTTCAGTGTATTTCATTTTCTCTTTAGTCAACAAAATTGGGATCCTACTATGGGTATAATTTATCCTTTTTCACTCTGCATGACATTTGTCTAAGTTCAAAAACACTTGTAATGGCCGCGCAGTATTTAGTTGTGATTCATGTCAACATCACCCTTTTGGGACTTTGTTTCTAATATGTTGCTGCCGTAGGTAGTAGTGTATTTAAGTCATGTATCAATGTTTTATATGTATTTCTAACTATGAATTCAAGAGATTCCAGTAAGAAGAATGTCTGGCTTTAAAGGAGATGGCCTCTAAATGTCCCCGTGTACCTGTGACCGCGTGGCGAGGCTCCCTGGCCCCCAGGAGACTGAAGGCTCCTTGTTCTCTTCCTCATTTGGACTGTGCCTCTCTTTTCGTTTCAGTTCCTCTTTTCTTGAAAGTTGCGTCTTCCATTCTTCTGTCTTGAGGTCGCGTCTGTTCTCCCGCCTCCGTTTTCTCCGCTCTTCATTGGCCACCGATGACCTTTACTTTGATTTGGATATGATTTTGCTTCTCATTGAAATCCTAAAATAGCCTCCCCTTTCAAGCCATCTCTCCCCTCAAACTATTGACCAGAGAAGATACAATAAAACGTCGGCTCACTTCCTTAGCTTTCCTGCCTGGGCCTTTGTTCTTCAGTCTCACACCCGAGTTCTGTAATAATGATGTCACCGCTTATGGGTCACTTCTGGGTCGTGAATTATCCTGGATCTTTTATCTTCATTACCTCATTTGTTTCCCCTCAGCAAGGTAAACAGTTCTCTGTTTCATAGCAAGGGCTCAGAAAG
Task1_train_10930
A variant affecting Chromosome 7, within the gene WIPI2 (WD repeat domain, phosphoinositide interacting 2), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Intellectual developmental disorder with short stature and variable skeletal anomalies
CTTGGTAAATAGCGCCACTTGCCACCCCCGCCAGCACCCTGGCACCCAAGCCAGAGGGACTCGGCCCTGCATCCTTCCGCCTGAATGGTGCCTCCAGGGAGCTCCCACCTGTGGGCCCGCCCTGTGCCTCTCCCGCCACGCCACCTGATCCAGGCTTTGCCTGGTTTCTGCTGTTGCCCTGGATTCCTGTCAGGCCGTTCTTCAGACTCTCACCCAGGCTGTTTGAAAAATGTAAATATAATCCAATCACACCCCACCTGACATCTCCCACCACACCTCTGTCCTGCAGGATTAGCCCCAGGCCCCTGCCTTGGTTCAGCAGGCCTCCCGGCACCAGCCCTTCCGCCCAGCCTGATTCTGTTTCACTGTCCCTGTCCTGGCTCCAGCAGTACCGCACTTTCAGATCCTCAGAAGAGCCGATCTCTTTTATCCACCAGGGTCTTGCGTGAGCTGGCAGATCTGGTGGCCTGGCCGGCTTCTGTAACCCTGGGAGTCCAAGTCGAGTGTCGCCCTCGAGGAGGCCTTTTTTTGATCCTTGGGTTAAATCCCTTTCTCCATGCGTCTCTAGTGCCTTCCACGTATTTTTCTCACATTCCTTTGCCTGTGGCAAATGGAATATTTGGGTGACCGCCCAAGGGGTTCACCTTGCCCGCTGCCTAGGCAGAGCCGATTCATCAAGATGGGAATTGCAGTAGAGAAAGTAATTCATGCAGAGCTGGCCATGCGGGAGGCTGGAGTTTTACTACTACTCAAATCAGTCTGTCTGAGCATTCAGGGAGCAGAGTTTTTAAGGATAACTTGGGTGGGGAGAAGCCAGTGAGCCAGGAGGGCTGACTGGTCAGAGATGAAATGTTAGGGAGTCGGAGCTGTCTTCTTGCACTCAGTGAGTTCCTGGCTGGGGGCCACAAGATCAGATGAGCCAGTTCATTGATCTGTGTGGGGCCGCCGGATCCATCAAGTGCAGGGTCTGCAAAATACCATAAGCAAACTTTCTCCCAAAGTTAATTCAGCCTATGCCCGGGGAGGAACAAGGACGGCTTGGAGATGACAAGCAAGATGGAGTCAGCAAAGCTAGATCTCGTTCACCGTCTCAGTCATAATTTTGCAAAGGCGGTTTCGTTTGCACCTCCCTGACCCCACCCCCATCGCTGGATGCTGCATTAAGGCGAGAACATTCCTAATTCATACACATGGTCAACACTGACTCCAGGAAAACCCCTTGCTATTACGGACAGGGCTAAAAGTATCTTGTATTTCTAGGGTTATGAAGAAATTCACATGAATTTAGTGGCTTTGGGATGCCGATTGATTTTTAAGACACACTGGAGCCACTTTCCCTGTTGAAAGTTTTGCTCTGTCTTTTTTTTTTTTTAAATAATTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTAATTTTAGTAGAGACGGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATATCTTGACCTCATGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGCTTGAGCCACCGTGCCCGGCCCTTTGCTCTGTTCTTAAACTTTACTGAGGTTGCCGATTTACCCTCTGGTGTGGAAAGAATGGCTGTAACTTAAATTACTGAGTTTTCTTTTACTCACCTTAGGACTATAAATCCATCCTACTTCAGCTAAAAGTGGTTTAGTGAAATCCTACTCCTTTTGTCATGTGGAAGCTTGCAGCTGTGTTAACGAATTGTTCTTAGTATTTCCTTTTGAACATTTTCCTCTCTCAAGGAAAATGTTTGAGAAGGTGGCTAGAGGGGAATAAAACTTACCAGCAGGCCCAAGTGTGCCCGTGACAGGAACTCTTCTCCGCCACTTGAGTTGAACCCCTGGGGCAGCTGCTGGCTCCGGTGGCCCGCCCCAACCTGTGCGTCTCCCCAGGTGCGTGAGCATCTGCTCCCTGGCCTTCAGCATGGACGGCATGTTCCTCTCCGCCTCCAGCAACACTGAGACCGTGCACATCTTCAAACTCGAGACTGTGAAAGAAAAGTGAGTTGCAAATATACGTTTCTTTAAAAATGATGCAAAACCCTTTGTCCCCACTTGCTGCCGGGATGAGAGGTAAGCACGGACCCGCCCACCCTCTGACATCGTTAGCCAGTGAAGACCCCGGAGCTGGCCATGGAGCGAGCACCTCCGCATCCAGGCTCGGCAGTGAGGAGGATGGGCCCCAGCAGATGAGCTTCTCCCACAGGCAGCACGCAGGGTAGACAGAGCCCTCGCGTAGGGCATGGAGGGCCCAGGTGGACATCCTTTTGTCAGTGAAGATGGCCTCTCCTCAGGTTCCCCTCACGACAAAAGCGTTTGTGATCAGACAGCCCACTAGGGTGAATGGCTCGTCTCTTACCTTCCCACGGGTAAGCAGAGACATGGACGGCTTCCACAAGAATTTATTATCGCAATGAATGTGTAGCATGAGGGGGGTCTTATCTTTTAAGAGGGGCTTACTCTGTTGCCCAGGCTGCAGTGCAGTGGTACAGTCATTACTTATTGTAGCCTCTAGCTGCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCTGAGTACCTGGGACTATAGGCGTGCACCATGCCTGGCTAATTTTTAAAATTTTGTAGAGACAGAATTTCGCTGTGTTGCCCAGGCTGGTCTGGAATTCCTGGGCTCAAGTGATCTGCCGGTGAGCCACCGCGCCCAGCCTGTCTTTAAAAATTTTAAAAAGAACATCCCACTCAGACCAGCGTTAACAATAACATACTTTAGGTGGTCAAAAATAATAAATTTTGTTGGGTATATTTCATCACAATTTTTAAAAAGACAAATGGAGCATGCCCCGCCCTCCCCCCCAAAAAAGATGAATAGCAACACAAACAGGATACGGGAAAATAACATTTTGGGGTCTATACTCAAGGTTTTTGGAGACTTCTATTACAGAGACCTAGCAGGGGTCATCAGTTAGGCCCTAGACGTCCTCACACCCTTGCAAAGGGGATGTGTGGTCAGCTGCCACGTCTTGTCCGTGGCCAAAGGCTGTAGCTCCTCCCTGAAGCCTGAGCACCCCTCCCCCGACACCTCCCAGAGGAAGCTCCGTGATGCCCCTGGGGCCCTGAGTGTCTGCTTATAACCAACCCTGTTTAATTTTCCTGTGAAGAATGGAGACTTTTGCTGTCGGCTCCAGAGCTGTGCGTCTGTGTGAGTAGGGGGTGGCCGTCCCCCCAGGGAGGGTGCAGCTTCATGTGTCTGGTGGCCTTTCCTTCCAGACCCCCAGAGGAGCCCACCACCTGGACCGGGTACTTCGGGAAAGTGCTCATGGCCTCCACCAGCTACCTGCCTTCCCAAGTGACAGAAATGTTCAACCAGGGCAGAGCCTTCGCCACGGTCCGCCTGCCATTCTGCGGCCACAAAAACATCTGCTCGCTAGCCACGTGAGTAGAGCCGGCGCCTCCGTCCCCCACCCCGTGTGCCTCAGGCCGAGGGGCCCAGTCCTGGCGGCTTGTGGCCCCTTCCGTGCTTCTGAACAGGAGCAGCTTCTTAGAGCCGACACTCCATCGAGAGTTGTCGGGGATGGGAGGTCCCCTGGCAGGCACTAGGCTTGCCGCTCTGTGCGGGGGTCCATTTCCAGACGGGCTCCCGTTCTGTTTTTGTGGATAGTCTGCGGTATTAATGAAAGACGTTAAGTCAAACCTCGTGAGTGTGCCGTAGTTAACCCTTTGGGGCCACAGAAACCGCACTTGCCGAGTCTCAGGCATCCGTCCGGCTCCAGGGTCTGGCCTCAGAACACACACAGGGCCTGTGGAGGTTCTGTGCTGCGTGCGGGAAAGATTGTCATTACACCCAGTGATGGCAGGGCTTTGGGCTTCCGTGCGTCTTTAAACATCATTTTCCAGTTTTGTTATCTGACTAGCATCCTGGAAAACTTCTCTGACGATGACTACCTATAATAATCCCAGAAGCC
CTTGGTAAATAGCGCCACTTGCCACCCCCGCCAGCACCCTGGCACCCAAGCCAGAGGGACTCGGCCCTGCATCCTTCCGCCTGAATGGTGCCTCCAGGGAGCTCCCACCTGTGGGCCCGCCCTGTGCCTCTCCCGCCACGCCACCTGATCCAGGCTTTGCCTGGTTTCTGCTGTTGCCCTGGATTCCTGTCAGGCCGTTCTTCAGACTCTCACCCAGGCTGTTTGAAAAATGTAAATATAATCCAATCACACCCCACCTGACATCTCCCACCACACCTCTGTCCTGCAGGATTAGCCCCAGGCCCCTGCCTTGGTTCAGCAGGCCTCCCGGCACCAGCCCTTCCGCCCAGCCTGATTCTGTTTCACTGTCCCTGTCCTGGCTCCAGCAGTACCGCACTTTCAGATCCTCAGAAGAGCCGATCTCTTTTATCCACCAGGGTCTTGCGTGAGCTGGCAGATCTGGTGGCCTGGCCGGCTTCTGTAACCCTGGGAGTCCAAGTCGAGTGTCGCCCTCGAGGAGGCCTTTTTTTGATCCTTGGGTTAAATCCCTTTCTCCATGCGTCTCTAGTGCCTTCCACGTATTTTTCTCACATTCCTTTGCCTGTGGCAAATGGAATATTTGGGTGACCGCCCAAGGGGTTCACCTTGCCCGCTGCCTAGGCAGAGCCGATTCATCAAGATGGGAATTGCAGTAGAGAAAGTAATTCATGCAGAGCTGGCCATGCGGGAGGCTGGAGTTTTACTACTACTCAAATCAGTCTGTCTGAGCATTCAGGGAGCAGAGTTTTTAAGGATAACTTGGGTGGGGAGAAGCCAGTGAGCCAGGAGGGCTGACTGGTCAGAGATGAAATGTTAGGGAGTCGGAGCTGTCTTCTTGCACTCAGTGAGTTCCTGGCTGGGGGCCACAAGATCAGATGAGCCAGTTCATTGATCTGTGTGGGGCCGCCGGATCCATCAAGTGCAGGGTCTGCAAAATACCATAAGCAAACTTTCTCCCAAAGTTAATTCAGCCTATGCCCGGGGAGGAACAAGGACGGCTTGGAGATGACAAGCAAGATGGAGTCAGCAAAGCTAGATCTCGTTCACCGTCTCAGTCATAATTTTGCAAAGGCGGTTTCGTTTGCACCTCCCTGACCCCACCCCCATCGCTGGATGCTGCATTAAGGCGAGAACATTCCTAATTCATACACATGGTCAACACTGACTCCAGGAAAACCCCTTGCTATTACGGACAGGGCTAAAAGTATCTTGTATTTCTAGGGTTATGAAGAAATTCACATGAATTTAGTGGCTTTGGGATGCCGATTGATTTTTAAGACACACTGGAGCCACTTTCCCTGTTGAAAGTTTTGCTCTGTCTTTTTTTTTTTTTAAATAATTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTAATTTTAGTAGAGACGGGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATATCTTGACCTCATGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGCTTGAGCCACCGTGCCCGGCCCTTTGCTCTGTTCTTAAACTTTACTGAGGTTGCCGATTTACCCTCTGGTGTGGAAAGAATGGCTGTAACTTAAATTACTGAGTTTTCTTTTACTCACCTTAGGACTATAAATCCATCCTACTTCAGCTAAAAGTGGTTTAGTGAAATCCTACTCCTTTTGTCATGTGGAAGCTTGCAGCTGTGTTAACGAATTGTTCTTAGTATTTCCTTTTGAACATTTTCCTCTCTCAAGGAAAATGTTTGAGAAGGTGGCTAGAGGGGAATAAAACTTACCAGCAGGCCCAAGTGTGCCCGTGACAGGAACTCTTCTCCGCCACTTGAGTTGAACCCCTGGGGCAGCTGCTGGCTCCGGTGGCCCGCCCCAACCTGTGCGTCTCCCCAGGTGCATGAGCATCTGCTCCCTGGCCTTCAGCATGGACGGCATGTTCCTCTCCGCCTCCAGCAACACTGAGACCGTGCACATCTTCAAACTCGAGACTGTGAAAGAAAAGTGAGTTGCAAATATACGTTTCTTTAAAAATGATGCAAAACCCTTTGTCCCCACTTGCTGCCGGGATGAGAGGTAAGCACGGACCCGCCCACCCTCTGACATCGTTAGCCAGTGAAGACCCCGGAGCTGGCCATGGAGCGAGCACCTCCGCATCCAGGCTCGGCAGTGAGGAGGATGGGCCCCAGCAGATGAGCTTCTCCCACAGGCAGCACGCAGGGTAGACAGAGCCCTCGCGTAGGGCATGGAGGGCCCAGGTGGACATCCTTTTGTCAGTGAAGATGGCCTCTCCTCAGGTTCCCCTCACGACAAAAGCGTTTGTGATCAGACAGCCCACTAGGGTGAATGGCTCGTCTCTTACCTTCCCACGGGTAAGCAGAGACATGGACGGCTTCCACAAGAATTTATTATCGCAATGAATGTGTAGCATGAGGGGGGTCTTATCTTTTAAGAGGGGCTTACTCTGTTGCCCAGGCTGCAGTGCAGTGGTACAGTCATTACTTATTGTAGCCTCTAGCTGCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCTGAGTACCTGGGACTATAGGCGTGCACCATGCCTGGCTAATTTTTAAAATTTTGTAGAGACAGAATTTCGCTGTGTTGCCCAGGCTGGTCTGGAATTCCTGGGCTCAAGTGATCTGCCGGTGAGCCACCGCGCCCAGCCTGTCTTTAAAAATTTTAAAAAGAACATCCCACTCAGACCAGCGTTAACAATAACATACTTTAGGTGGTCAAAAATAATAAATTTTGTTGGGTATATTTCATCACAATTTTTAAAAAGACAAATGGAGCATGCCCCGCCCTCCCCCCCAAAAAAGATGAATAGCAACACAAACAGGATACGGGAAAATAACATTTTGGGGTCTATACTCAAGGTTTTTGGAGACTTCTATTACAGAGACCTAGCAGGGGTCATCAGTTAGGCCCTAGACGTCCTCACACCCTTGCAAAGGGGATGTGTGGTCAGCTGCCACGTCTTGTCCGTGGCCAAAGGCTGTAGCTCCTCCCTGAAGCCTGAGCACCCCTCCCCCGACACCTCCCAGAGGAAGCTCCGTGATGCCCCTGGGGCCCTGAGTGTCTGCTTATAACCAACCCTGTTTAATTTTCCTGTGAAGAATGGAGACTTTTGCTGTCGGCTCCAGAGCTGTGCGTCTGTGTGAGTAGGGGGTGGCCGTCCCCCCAGGGAGGGTGCAGCTTCATGTGTCTGGTGGCCTTTCCTTCCAGACCCCCAGAGGAGCCCACCACCTGGACCGGGTACTTCGGGAAAGTGCTCATGGCCTCCACCAGCTACCTGCCTTCCCAAGTGACAGAAATGTTCAACCAGGGCAGAGCCTTCGCCACGGTCCGCCTGCCATTCTGCGGCCACAAAAACATCTGCTCGCTAGCCACGTGAGTAGAGCCGGCGCCTCCGTCCCCCACCCCGTGTGCCTCAGGCCGAGGGGCCCAGTCCTGGCGGCTTGTGGCCCCTTCCGTGCTTCTGAACAGGAGCAGCTTCTTAGAGCCGACACTCCATCGAGAGTTGTCGGGGATGGGAGGTCCCCTGGCAGGCACTAGGCTTGCCGCTCTGTGCGGGGGTCCATTTCCAGACGGGCTCCCGTTCTGTTTTTGTGGATAGTCTGCGGTATTAATGAAAGACGTTAAGTCAAACCTCGTGAGTGTGCCGTAGTTAACCCTTTGGGGCCACAGAAACCGCACTTGCCGAGTCTCAGGCATCCGTCCGGCTCCAGGGTCTGGCCTCAGAACACACACAGGGCCTGTGGAGGTTCTGTGCTGCGTGCGGGAAAGATTGTCATTACACCCAGTGATGGCAGGGCTTTGGGCTTCCGTGCGTCTTTAAACATCATTTTCCAGTTTTGTTATCTGACTAGCATCCTGGAAAACTTCTCTGACGATGACTACCTATAATAATCCCAGAAGCC
Task1_train_10931
The gene ACTB (actin beta) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; not provided
TGGGGGTTGAATGATTAAGTGGCCCAAGGTGGCCCAGGGCTCACCACTGCAGAAATCAGACCAAAAGAGCTAGAACCACCCCAGAGAGCCCTTCAGGGGACCTCCAAGATAACACAGGAGGAAGGGTACCACCTTCCTCTCTGCCAGTAGGCCACTGTGCACAGTTGAGAGTCCAGGCCTCCTGGGGGGACCGGATCATTTCCAGAACAACTGCTATGCACCAGGTGGTGTTTGGGGTAAACGGCATCCCTGCAAGGGATCCTCACCCCCTTTTCTTCCTTCATTCTCTGCTGGTGTCAATCACAGCTTCTAGCAGAGGGAAGGCAGGCCAGGCTTGGTTTCTTCTTGCGAGAGTATTTAACTCAGGGCCCTGTAGAACAATGAGAATCTGACCTGCAACTAGCTGGGCGTGCTGGGGCATGCCTGTGTAGTTTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCAAAGTTGAGGCTGCAGTGAGCCATGGTTGTGCCATTACACTCCAGCCTGGGCAACACAAGACCCCGTCTCAGAAATAAAAAGAGAACCTGGCCTGCAGTGCCAGGCAGGCCCTGAGGTCCAGGAGCCTGGGTATCTCCCTCTGCAGCATGGGTCACGAACAAACTGGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCC
TGGGGGTTGAATGATTAAGTGGCCCAAGGTGGCCCAGGGCTCACCACTGCAGAAATCAGACCAAAAGAGCTAGAACCACCCCAGAGAGCCCTTCAGGGGACCTCCAAGATAACACAGGAGGAAGGGTACCACCTTCCTCTCTGCCAGTAGGCCACTGTGCACAGTTGAGAGTCCAGGCCTCCTGGGGGGACCGGATCATTTCCAGAACAACTGCTATGCACCAGGTGGTGTTTGGGGTAAACGGCATCCCTGCAAGGGATCCTCACCCCCTTTTCTTCCTTCATTCTCTGCTGGTGTCAATCACAGCTTCTAGCAGAGGGAAGGCAGGCCAGGCTTGGTTTCTTCTTGCGAGAGTATTTAACTCAGGGCCCTGTAGAACAATGAGAATCTGACCTGCAACTAGCTGGGCGTGCTGGGGCATGCCTGTGTAGTTTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCAAAGTTGAGGCTGCAGTGAGCCATGGTTGTGCCATTACACTCCAGCCTGGGCAACACAAGACCCCGTCTCAGAAATAAAAAGAGAACCTGGCCTGCAGTGCCAGGCAGGCCCTGAGGTCCAGGAGCCTGGGTATCTCCCTCTGCAGCATGGGTCACGAACAAACTGGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATACACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCC
Task1_train_10932
The following genetic variant occurs in ACTB (actin beta) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Baraitser-Winter syndrome 1
GTGTAGTTTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCAAAGTTGAGGCTGCAGTGAGCCATGGTTGTGCCATTACACTCCAGCCTGGGCAACACAAGACCCCGTCTCAGAAATAAAAAGAGAACCTGGCCTGCAGTGCCAGGCAGGCCCTGAGGTCCAGGAGCCTGGGTATCTCCCTCTGCAGCATGGGTCACGAACAAACTGGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCG
GTGTAGTTTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCAAAGTTGAGGCTGCAGTGAGCCATGGTTGTGCCATTACACTCCAGCCTGGGCAACACAAGACCCCGTCTCAGAAATAAAAAGAGAACCTGGCCTGCAGTGCCAGGCAGGCCCTGAGGTCCAGGAGCCTGGGTATCTCCCTCTGCAGCATGGGTCACGAACAAACTGGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACGCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCG
Task1_train_10933
A mutation found in ACTB (actin beta) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Baraitser-Winter syndrome 1
GCCTGGGTATCTCCCTCTGCAGCATGGGTCACGAACAAACTGGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCC
GCCTGGGTATCTCCCTCTGCAGCATGGGTCACGAACAAACTGGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACACACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCC
Task1_train_10934
Mutation context: Chromosome 7, Gene ACTB (actin beta). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Baraitser-Winter syndrome 1
CCCTCTGCAGCATGGGTCACGAACAAACTGGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGC
CCCTCTGCAGCATGGGTCACGAACAAACTGGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCACTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGC
Task1_train_10935
The gene ACTB (actin beta) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Baraitser-Winter syndrome 1
TGCAGCATGGGTCACGAACAAACTGGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGC
TGCAGCATGGGTCACGAACAAACTGGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGCCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGC
Task1_train_10936
An alteration has been detected in ACTB (actin beta) on Chromosome 7. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Inborn genetic diseases
GGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGG
GGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGTGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGG
Task1_train_10937
Consider a variant on Chromosome 7 in gene ACTB (actin beta). Determine its clinical classification and disease relevance.
Pathogenic; Baraitser-Winter syndrome 1
GGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGG
GGGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGTGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGG
Task1_train_10938
This alteration occurs within gene ACTB (actin beta) located on Chromosome 7. Is it associated with a disease or is it a benign variant?
Pathogenic; Baraitser-Winter syndrome 1
GGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGG
GGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCACTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGG
Task1_train_10939
This sequence change occurs on Chromosome 7, altering ACTB (actin beta). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; not provided
GGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGG
GGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCCCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGG
Task1_train_10940
This is a variant in ACTB (actin beta), located on Chromosome 7. Is this mutation a likely cause of disease or not?
Pathogenic; Baraitser-Winter syndrome 1
GGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGG
GGCCCTCAGAGGCCACGGGATGGCGCCCAGTCTCCAGTCACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCTCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGG
Task1_train_10941
A mutation in ACTB (actin beta), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Baraitser-Winter syndrome 1
ACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGC
ACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCAGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGC
Task1_train_10942
A variant found in Chromosome 7 affects ACTB (actin beta). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Inborn genetic diseases
ACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGC
ACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCAGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGC
Task1_train_10943
A mutation on Chromosome 7 affecting ACTB (actin beta) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; ACTB-related BAFopathy
ACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGC
ACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCAGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGC
Task1_train_10944
A genomic change on Chromosome 7 affects ACTB (actin beta). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Developmental malformations-deafness-dystonia syndrome
ACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGC
ACAAGGCAGAATCCAGACCTCAGCCCATAGCTAACCAGAGCTGTCTGCAGGCCAGATATGGCCCCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCAGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGC
Task1_train_10945
An alteration has been detected in ACTB (actin beta) on Chromosome 7. Is it pathogenic, and if so, what disease is involved?
Pathogenic; not provided
CCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCC
CCATGGACCCCCTACCCCAACTTGACTTTGATTCCAGGTCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGCGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCC
Task1_train_10946
This variant affects gene ACTB (actin beta) located on Chromosome 7. Evaluate its biological effect and specify any disease association.
Pathogenic; Baraitser-Winter syndrome 1
TCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACG
TCCCCCTCTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAATGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACG
Task1_train_10947
A variant affecting Chromosome 7, within the gene ACTB (actin beta), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Becker nevus syndrome
CTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTG
CTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACAGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTG
Task1_train_10948
The gene ACTB (actin beta) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Baraitser-Winter syndrome 1
CTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTG
CTGTCTGGATGAACAGGTAGGAATTGCGGCCTCTCCTAAGCCTATGGGAGCCTGGGCCAGGCTGACCCTCAAGGCTGACAGCCACGATCCCATAGGTGAAGGCAAAGGCGTGGCAGCTAGGAACACCCACTACACCCCCACTCAAGGGAACACCGTGCCCAGCTACCCTGAGACAGCCCCACTCCCAGGAAATGCAGGTGCCAACCAGCCCCAGTGAGGCATGGCACCTGAGCCAGACACCCCCAAATAGTCCCTTCCCACCTCCTCAAGCATCTGCACTCTGGGTGAACCCAGAAAAACTGGGGTACCTGGGGAGACATAGAAGGGCCAGGCCAGGAACTCCCCAATAAGCAGGAACAGAGACCTGACCCCTGAGCCTCCCCCACCCTCTAAGGCTGCTCAATGTCAAGGCAGGAGGGATCTCCACACACCTGCACTCTGGGTAAGGACAAGTTGGCCCCCACTGCCCCACCCTTTTGCAGGGTTCACCCTCCTGCAGGGTTCACCCTCTGCTGCCCCCAACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACAGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTG
Task1_train_10949
Gene ACTB (actin beta) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Baraitser-Winter syndrome 1
ACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCT
ACCCAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGATCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCT
Task1_train_10950
A variant found in Chromosome 7 affects ACTB (actin beta). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; not provided
CAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGG
CAGCCACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCGTCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGG
Task1_train_10951
A mutation on Chromosome 7 affecting ACTB (actin beta) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Baraitser-Winter syndrome 1
ACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGA
ACACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTATCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGA
Task1_train_10952
This genomic variant is located on Chromosome 7, within the ACTB (actin beta) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Baraitser-Winter syndrome 1
CACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGAG
CACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCACGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGAG
Task1_train_10953
Consider this mutation in ACTB (actin beta) on Chromosome 7. Is this a benign change or a disease-causing variant?
Pathogenic; not provided
ACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGAGA
ACCACAAAGTCACACTTGGCCTCATTTTTAAGGTGTGCACTTTTATTCAACTGGTCTCAAGTCAGTGTACAGGTAAGCCCTGGCTGCCTCCACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTTGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGAGA
Task1_train_10954
The variant affects gene ACTB (actin beta), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Inborn genetic diseases
CACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGAGAGGTAGAGTGTGGTGTTGGGGGAGTCAGGTGGCTTGCGGCCACTTAGAAGTCGCAGGACCACACTCCCCAGGACAGGGCAGGGGCCAGCGG
CACCCACTCCCAGGGAGACCAAAAGCCTTCATACATCTCAAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTCCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGAGAGGTAGAGTGTGGTGTTGGGGGAGTCAGGTGGCTTGCGGCCACTTAGAAGTCGCAGGACCACACTCCCCAGGACAGGGCAGGGGCCAGCGG
Task1_train_10955
A genomic change on Chromosome 7 affects ACTB (actin beta). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Baraitser-Winter syndrome 1
AAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGAGAGGTAGAGTGTGGTGTTGGGGGAGTCAGGTGGCTTGCGGCCACTTAGAAGTCGCAGGACCACACTCCCCAGGACAGGGCAGGGGCCAGCGGTCCAGTGGCTGGAGGTGGCCCGTGATGAAGGCTACAAAC
AAGTTGGGGGACAAAAAAGGGGGAAGGGGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCAGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGAGAGGTAGAGTGTGGTGTTGGGGGAGTCAGGTGGCTTGCGGCCACTTAGAAGTCGCAGGACCACACTCCCCAGGACAGGGCAGGGGCCAGCGGTCCAGTGGCTGGAGGTGGCCCGTGATGAAGGCTACAAAC
Task1_train_10956
The following genetic variant occurs in ACTB (actin beta) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Baraitser-Winter syndrome 1
GGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGAGAGGTAGAGTGTGGTGTTGGGGGAGTCAGGTGGCTTGCGGCCACTTAGAAGTCGCAGGACCACACTCCCCAGGACAGGGCAGGGGCCAGCGGTCCAGTGGCTGGAGGTGGCCCGTGATGAAGGCTACAAACCTACCCAGCCGCAGCCCTGGGAAGGAA
GGGGGCACGAAGGCTCATCATTCAAAATAAAACAAAATAAAAAAGTATTAAGGCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGACGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGAGAGGTAGAGTGTGGTGTTGGGGGAGTCAGGTGGCTTGCGGCCACTTAGAAGTCGCAGGACCACACTCCCCAGGACAGGGCAGGGGCCAGCGGTCCAGTGGCTGGAGGTGGCCCGTGATGAAGGCTACAAACCTACCCAGCCGCAGCCCTGGGAAGGAA
Task1_train_10957
This alteration in ACTB (actin beta) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Baraitser-Winter syndrome 1
GCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGAGAGGTAGAGTGTGGTGTTGGGGGAGTCAGGTGGCTTGCGGCCACTTAGAAGTCGCAGGACCACACTCCCCAGGACAGGGCAGGGGCCAGCGGTCCAGTGGCTGGAGGTGGCCCGTGATGAAGGCTACAAACCTACCCAGCCGCAGCCCTGGGAAGGAAGGTGGGCTCTACAGGGCAGGGCACCTTTTACCCTGGAGCTGCCTGCTTTTGA
GCGAAGATTAAAAAAATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCTATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGAGAGGTAGAGTGTGGTGTTGGGGGAGTCAGGTGGCTTGCGGCCACTTAGAAGTCGCAGGACCACACTCCCCAGGACAGGGCAGGGGCCAGCGGTCCAGTGGCTGGAGGTGGCCCGTGATGAAGGCTACAAACCTACCCAGCCGCAGCCCTGGGAAGGAAGGTGGGCTCTACAGGGCAGGGCACCTTTTACCCTGGAGCTGCCTGCTTTTGA
Task1_train_10958
The gene ACTB (actin beta) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; not provided
AATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGAGAGGTAGAGTGTGGTGTTGGGGGAGTCAGGTGGCTTGCGGCCACTTAGAAGTCGCAGGACCACACTCCCCAGGACAGGGCAGGGGCCAGCGGTCCAGTGGCTGGAGGTGGCCCGTGATGAAGGCTACAAACCTACCCAGCCGCAGCCCTGGGAAGGAAGGTGGGCTCTACAGGGCAGGGCACCTTTTACCCTGGAGCTGCCTGCTTTTGAGGGTAACAGTCACG
AATTTTGCATTACATAATTTACACGAAAGCAATGCTATCACCTCCCCTGTGTGGACTTGGGAGAGGACTGGGCCATTCTCCTTAGAGAGAAGTGGGGTGGCTTTTAGGATGGCAAGGGACTTCCTGTAACAACGCATCTCATATTTGGAATGACTATTAAAAAAACAACAATGTGCAATCAAAGTCCTCGGCCACATTGTGAACTTTGGGGGATGCTCGCTCCAACCGACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCATGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGAGAGGTAGAGTGTGGTGTTGGGGGAGTCAGGTGGCTTGCGGCCACTTAGAAGTCGCAGGACCACACTCCCCAGGACAGGGCAGGGGCCAGCGGTCCAGTGGCTGGAGGTGGCCCGTGATGAAGGCTACAAACCTACCCAGCCGCAGCCCTGGGAAGGAAGGTGGGCTCTACAGGGCAGGGCACCTTTTACCCTGGAGCTGCCTGCTTTTGAGGGTAACAGTCACG
Task1_train_10959
Gene ACTB (actin beta), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Baraitser-Winter syndrome 1
GACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGAGAGGTAGAGTGTGGTGTTGGGGGAGTCAGGTGGCTTGCGGCCACTTAGAAGTCGCAGGACCACACTCCCCAGGACAGGGCAGGGGCCAGCGGTCCAGTGGCTGGAGGTGGCCCGTGATGAAGGCTACAAACCTACCCAGCCGCAGCCCTGGGAAGGAAGGTGGGCTCTACAGGGCAGGGCACCTTTTACCCTGGAGCTGCCTGCTTTTGAGGGTAACAGTCACGCCCAGCCAAGACAAGGCCTGGGGCGTTAGTGGGTGACCTAGGCACTGCGGGGCGGGGGGGCTGGGTCTACACAGCCTGGGTCTGGGCCCACCGTCCGTTGTATGTCTGCTATGCGCAGCCACAGCTGAACTGCCCTCCCAGACCATCTGGAGGCCGCTGGGGGACTCTGGGGACCAAGACTCCATGTGCCACAGAGGATTGGGGGCGGGGCGGTGCTAGGAACTCAA
GACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTCGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGAGAGGTAGAGTGTGGTGTTGGGGGAGTCAGGTGGCTTGCGGCCACTTAGAAGTCGCAGGACCACACTCCCCAGGACAGGGCAGGGGCCAGCGGTCCAGTGGCTGGAGGTGGCCCGTGATGAAGGCTACAAACCTACCCAGCCGCAGCCCTGGGAAGGAAGGTGGGCTCTACAGGGCAGGGCACCTTTTACCCTGGAGCTGCCTGCTTTTGAGGGTAACAGTCACGCCCAGCCAAGACAAGGCCTGGGGCGTTAGTGGGTGACCTAGGCACTGCGGGGCGGGGGGGCTGGGTCTACACAGCCTGGGTCTGGGCCCACCGTCCGTTGTATGTCTGCTATGCGCAGCCACAGCTGAACTGCCCTCCCAGACCATCTGGAGGCCGCTGGGGGACTCTGGGGACCAAGACTCCATGTGCCACAGAGGATTGGGGGCGGGGCGGTGCTAGGAACTCAA
Task1_train_10960
This gene mutation involves ACTB (actin beta) on Chromosome 7. Is it associated with any clinical condition, or is it benign?
Pathogenic; Baraitser-Winter syndrome 1
GACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTTGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGAGAGGTAGAGTGTGGTGTTGGGGGAGTCAGGTGGCTTGCGGCCACTTAGAAGTCGCAGGACCACACTCCCCAGGACAGGGCAGGGGCCAGCGGTCCAGTGGCTGGAGGTGGCCCGTGATGAAGGCTACAAACCTACCCAGCCGCAGCCCTGGGAAGGAAGGTGGGCTCTACAGGGCAGGGCACCTTTTACCCTGGAGCTGCCTGCTTTTGAGGGTAACAGTCACGCCCAGCCAAGACAAGGCCTGGGGCGTTAGTGGGTGACCTAGGCACTGCGGGGCGGGGGGGCTGGGTCTACACAGCCTGGGTCTGGGCCCACCGTCCGTTGTATGTCTGCTATGCGCAGCCACAGCTGAACTGCCCTCCCAGACCATCTGGAGGCCGCTGGGGGACTCTGGGGACCAAGACTCCATGTGCCACAGAGGATTGGGGGCGGGGCGGTGCTAGGAACTCAA
GACTGCTGTCACCTTCACCGTTCCAGTTTTTAAATCCTGAGTCAAGCCAAAAAAAAAAAAAAAACCAAAACAAAACAAAAAAAACAAATAAAGCCATGCCAATCTCATCTTGTTTTCTGCGCAAGTTAGGTTTTGTCAAGAAAGGGTGTAACGCAACTAAGTCATAGTCCGCCTAGAAGCATTTGCGGTGGACGATGGAGGGGCCGGACTCGTCATACTCCTGCTTGCTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACGGAGTACTTGCGCTCAGGAGGAGCAATGATCTGAGGAGGGAAGGGGACAGGCAGTGAGGACCCTGGATGTGACAGCTCCCCACACACCACAGGACCCCACAGCCGACCTGCCCAGGTCAGCTCAGGCAGGAAAGACACCCACCTTGATCTTCATTGTGCTGGGTGCCAGGGCAGTGATCTCCTTCTGCATCCTGTCGGCAATGCCAGGGTACATGGTGGTGCCGCCAGACAGCACTGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTAGTTTCGTGGATGCCACAGGACTCCATGCCTGAGAGGGAAATGAGGGCAGGACTTAGCTTCCACAGCACAGCCCCGAGGGGTAACCCTCATGTCAGGCAGAGCCGGGAGACAGTCTCCACTCACCCAGGAAGGAAGGCTGGAAGAGTGCCTCAGGGCAGCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCGTCAGGCAGCTCGTAGCTCTTCTCCAGGGAGGAGCTGGAAGCAGCCGTGGCCATCTCTTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTAATGTCACGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCGCGCTCGGTGAGGATCTTCATGAGGTAGTCAGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCATGGGGGAGGGCATACCCCTCGTAGATGGGCACAGTGTGGGTGACCCCGTCACCGGAGTCCATCACGATGCCAGTGGTACGGCCAGAGGCGTACAGGGATAGCACAGCCTGGATAGCAACGTACATGGCTGGGGTGTTGAAGGTCTCAAACATGATCTGTAAGGCAGAGATACACCATGTCACACTGGGGAAGCCACTGGGGACAGCCAGGCCAGACGGGGGACATGCAGAAAGTGCAAAGAACACGGCTAAGTGTGCTGGGGTCTTGGGATGGGGAGTCTGTTCAGACCTACTGTGCACCTACTTAATACACACTCCAAGGCCGCTTTACACCAGCCTCATGGCCTTGTCACACGAGCCAGTGTTAGTACCTACACCCACAACACTGTCTTAGACACCTAGTCAGAGAGACAAACACCAGAAAAAGAGCTCATCTGGGAAAAAGCAAATAGAACCTGCAGAGTTCCAAAGGAGACTCAGGTCAGAGAAGAGAGTCCTACGGAAAACGGCAGAAGAGAGAACCAGTGAGAAAGGGCGCAGCTCCGGGAGGCCAGGAAGGAGGGAGGCGGCCACCAGAAGAGGTAGCGGGCCACTCACCTGGGTCATCTTCTCGCGGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACGGGGTGCTCCTCGGGAGCCACACGCAGCTCATTGTAGAAGGTGTGGTGCCAGATTTTCTCCATGTCGTCCCAGTTGGTGACGATGCCGTGCTCGATGGGGTACTTCAGGGTGAGGATGCCTCTCTTGCTCTGGGCCTCGTCGCCCACATAGGAATCCTTCTGACCCATGCCCACCATCACGCCCTGGGAAGGAAAGGACAAGAAGCCCTGAGCACGGGCGCAGCCCCCACCCCGGAAACCGGGAGGCTCCTGTGCAGAGAAAGCGCCCTTGCCTCCCGCCCGCTCCCGGGGCTGCCCCACCCAGCCAGCTCCCCTACCTGGTGCCTGGGGCGCCCCACGATGGAGGGGAAGACGGCCCGGGGGGCATCGTCGCCCGCGAAGCCGGCCTTGCACATGCCGGAGCCGTGGTCGACGACGAGCGCGGCGATATCATCATCCATGGTGAGCTGCGAGAATAGCCGGGCGCGCTGTGAGCCGAGGTCGCCCCCGCCCTGGCCACTTCCGGCGCGCCGAGTCCTTAGGCCGCCAGGGGGCGCCGGCGCGCGCCCAGATTGGGGACAAAGGAAGCCGGGCCGGCCGCGTTATTACCATAAAAGGCAAACACTGGTCGGAGGCGTCCCCGCGGCGCGCGGCAGGAAGCCAGGCCCCAACCCCCTCCCAACCGGGCGCCAGCCCCGCCTCCGCCCGGTTCAAACAGCGCCGGGTCGGCGCGCGCGCACGCAGCGGCCACACCCTCGGGCGGCCAGCGGCTCGGGCAGGAAGTGCGCGCAAGCGCCCGGGAGCCGCGGCGACCCCACCCCTTCCGGCCGAGCCCGCCTTCGCCCCAGCCCAGGCCGCGGCACCCCGGGCCCCAGAACGCACGCGCAGTTAGCGCCTTGAGTCCCAGCGCGCACGCGCAATTAGCGCCAATTCCCAGCGCGCACGCAGTTAGCGCCCAAAGGACCAGCGCGCACGCGCAATGGCGCCCCAGCCCCCACCGGGCCTGGCGGGGGCTCCGCCGCGCCCACCCTGCGATCCCCATTGGCAAGAGCCCGGCTCAGACAAAGACCCCGCCGGTTGCCCCCGCCCCGAGAGCGGCACCCCCGGAGCGCGCCTCCCGAGCGCGGCCTCGCGCCTCCGAACTGGCGTGGGGTGTCCCCCATCTCCGGAGGCCCAGGGGCTTCTCCCGCGCCCCCCACGGCGGTCCGGTTCCCCCCCCATGCGCCCCCCGCTGCGGCCCAGACGGCGGCTCTGCACGGGCGAAGGGGCCGCGGCCGCCTGCGGCCGGGCCGTGAGCCGCCTGCCCCGGTCGGCTGGCCGGGCTTACCTGGCGGCGGGTGTGGACGGGCGGCGGATCGGCAAAGGCGAGGCTCTGTGCTCGCGGGGCGGACGCGGTCTCGGCGGTGGTGGCGCGTCGCGCCGCTGGGTTTTATAGGGCGCCGCCGCGGCCGCTCGAGCCATAAAAGGCAACTTTCGGAACGGCGCACGCTGATTGGCCCCGCGCCGCTCACTCACCGGCTTCGCCGCACAGTGCAGCATTTTTTTACCCCCTCTCCCCTCCTTTTGCGAAAAAAAAAAAGAGCGAGAGCGAGATTGAGGAAGAGGAGGAGGGAGAGTTTTGGCGTTGGCCGCCTTGGGGTGCTGGGCCCGGGGGCTGGGGGCGCGCGCCGTGGCCCCCGCGCCCCACGCTGGGCAGTGCCCGGTTCGGCCCCGCATGGCCAGGCCTGCCCCCGGCCTGCCCGTCTCTCGGGCCCCCCACCCACCGCGGGACATCCTAGGTGTGGACATCTCTTGGGCACTGAGCGCCCAGGTGGGGTGGGCCAGGGTCTGCACGGGTGCCAGGGCCCTGGGTTCTGTACGCTCCTGCAGAAGGAGCTCTTGGAGGGCATGGAGTGGCCAGGCAGTCACTCCCCCTTGCCGACTTCAGAGCAACTGCCCTGAAAGCAGGGCCTGAGGACCTCTGGCTGTGGGGCTCAGCTAGCTAAATGTGCTGGGTGGGTCACTAGGGAGAGACCTGGGCTTGAGAGGTAGAGTGTGGTGTTGGGGGAGTCAGGTGGCTTGCGGCCACTTAGAAGTCGCAGGACCACACTCCCCAGGACAGGGCAGGGGCCAGCGGTCCAGTGGCTGGAGGTGGCCCGTGATGAAGGCTACAAACCTACCCAGCCGCAGCCCTGGGAAGGAAGGTGGGCTCTACAGGGCAGGGCACCTTTTACCCTGGAGCTGCCTGCTTTTGAGGGTAACAGTCACGCCCAGCCAAGACAAGGCCTGGGGCGTTAGTGGGTGACCTAGGCACTGCGGGGCGGGGGGGCTGGGTCTACACAGCCTGGGTCTGGGCCCACCGTCCGTTGTATGTCTGCTATGCGCAGCCACAGCTGAACTGCCCTCCCAGACCATCTGGAGGCCGCTGGGGGACTCTGGGGACCAAGACTCCATGTGCCACAGAGGATTGGGGGCGGGGCGGTGCTAGGAACTCAA
Task1_train_10961
A genomic change on Chromosome 7 affects RNF216 (ring finger protein 216). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Cerebellar ataxia-hypogonadism syndrome
ATCAGCCAGAGCTCCTTTTCAGACAATGACCTCATGTGATCCTTGGCTATGATCTAGGGGTGGCAGAGTAGAATGCTGGAAGCAACTGGATCCCAGATAAGAGCTGCTAGCCCACCCCTGGGCTGTTCATCTCTGTACTTACACATAGAGGAGAAACACACTTCTGTTTTCCTTTTTTTTTGAGAACCCAAAGTGCCGGGATTACACCCATGAGCCACCACACATGGCTCCACATTTTTTTTTTTGAGACAGAGTCTCACATTGTCACCCAGGCTGGAGTATAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTTCTCAGTCTCCTGAGTAGCTGGTATTACAGGCATCCAACACCATGCCCGGCTAATATTTATATTTTTATTAGAGACAGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGTTTCCCAAAGTGCTAGGATTATAGGCATGTGACACCGTGCCTAGCCTTAATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAACCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATTTTTTTTTTTTTTTTTAATGAGATGGGGGTCTCACTATGTTAACCAGGCTTGTCTTGAACTCCTCGGCTCCAGCGATCCGCCCACCTTGGCCTTCAAAAGTGCTGGCATCACAGGCGTGAGCTACTGTGCCTGACCCTCTCCCCCAGTTTTTCATGTATCCCTAATCTTTGTTTATGATGTCATTTGCCAGTGAGAATTTATTATTTTTTAGTCTGGCCTTGATGTAATGCAAGAAAAACCTTATCTTCTCCAAGATTATAAAAGTCATTCCCTTCATGCTGTCCTCTCTCTCCCCAGCGTAGTAGCTAGTGTGACCTGGGAAACATAGCCCCTACAATGCCCTGAAATGGCTCTCATCACACTCCAGATCTGAGGCCGGCCCCTGGGCCAATCGCTGTCACCTCCCTGTGGCTCTCTCCACCTGCAAACCTCACCTGCTTTCTTTCCGATCCCCAAACAGACCCTATGTGTTTAATTTCCTTGCCAGCCTTGCTCCTCCTCTAAAATACTGTATTTTTAAAGCTTAAATCAAGAAGAAATATTTGATTTGATTTCTTAAATGTCTTCTCACCATCTACAGATACCATATAATGATTTACGTTAATAGAATTGTTAATATTAAACCATCATTGCATTTCTAGAACAAACTCACTTGGTCATGCTTTCTATTTGCTAATATTTTATTTACATAATTTAAAATCTAGATTATAAGTGAGTCTCATAAGAAAATCTGTAGTTTTCTTTGTTAGGGCTATCTCCGTCAGGCTTTGGAATCAGCGTTATGCTGGCTTTGAACAGATACATGTGTAAGTTTCCTTACTTTGCTCTGGAATATTTCAGAGGGCACAGAGTTTTATTTCCTGAAGAATTAAAAGAATTTGCCTATAAAACTGTTAGGGCATGCTGCTTTGAGCAGCATGAGGAGTAGCTGATAATTAGTTTCTCAAATTTTTTCTTTGGTTATCAGTCTATGTAATTTCCTATATTCTTCTCCTAAGTCAAATTTTGTTACGTATATTCAAAATATTTGTCATAAAAATATATTTCTATTTTCTCCCTATAAAGCAATAGGCAGCCATGTGTCTACTTACAGTGGGATCGGTCCAGAGAGAGCATCTTGAACACTCCTGGCAAGGGGCTCCTGGTGAGCGGGGATGTTGGCAGAAATGGTCATATCCATTAATAGAAACTCGACAGAGGTAGCACATCTGGGCACCACAGCGGCAAGACATGCGGTTGCAGCCTTCAGATTTGATGAGGCCAGTCCCACACTTGTGGCATTTTCTAATGCGGGCAGCAGTCATTTTTTCTTCACTGAAATAAGAAAACATAATTTGGAGCTGGGAGGGAAGATGAGGAGGAAAAAAATATGGCCATTAAGCATTTATTTATTTTCACATAAAATGATCACTTATGGCTTTTTTGTGACATTAAACAGTGAAAAGAGCCTAGGTTTTGGAGTCTGAGAACTGCTTCAAAGTTTTAATTGTATGACCTTCAGTAAATTACTCACCTGCCTGGAGACTCAGTTTCCTCATTTTTAAACTGTGAAAACACAACTTTCTCATGGTGTTTTGAGAATTACAGACAAAATATAAAGTACCCTGGCATAGTGCCCAGTACTCAGCATTTAGAAAAGGACTGCTCTATTTGTTATAGGAATCCCTGTAGGCTTAAAATGGAGAGAACAGGCTGAGCATGGTGGTGCACGCCTGTAATCCCAGAACTTTGAGAGGCCAAAGCAGGAAGATCATTTGAGCTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACTGTCTCTACTAAAAATACAAAAATTTGCCAGGCGTGGTAGTGCACACCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGAAGGCTGCAGTGAGCTGAGACCGTGTCACTGCACCCCAGCCTATGTAACAGAGTGAGACTCTATCTTAAAAAAAAAAAAAGAAAAAAAAAAAGAAAGAAAGAAAACATTGTCAAGGAGATGAGGTTTAGATAAAGTGCATTTAGTACTATTACCTTAATGAGTCACCTCTGTAGTACATCCGTTTATGATTTTAGTTACTCAGCAACTGTGAAGACACTACTCAACGTTCTACAACTCAAGGTTCTGTTTTGTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCTAGCCTGGGGCACAGTGGCTCCATCTCAGCTCACTGCAACCTCCGCCTCCCCGGGTTCAAGAGATTCTCCCACTTCAGTCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCATGCCCAGCTAAGTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCTGGCCTATTTTTTTTGAGACTCACTGCAACCTCCATTTCCTGGGTTCAAACGGTTCACATGTCTCAGCTTCCCAAGTAGCTGGCATCACAGGTGTGTGCCACCACATCACCACACCTGGCTTTCATGCCCGGCCATTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTAACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGCGTGAGCCACTGCGCCCAGCTAGACTCAAGGTTCTAATGAAAAACTTTTCAATTTGAAAAGCTATGTGCCCAAACACAACTGCAATTTTCTACAGCACAAACCTTCTCTGTAAGAGCACCCTGAGGCTGAGGTGCGGCTTTAAGGTGTGGCACTCCAGTTGCCTGGGGCTGGCTGACTTTCCCTGGGAAGCTGCTCAAGGAGAGAAGAGGCTGTAAAGAATTAAGGTTACAGTCTTTTCATGAAGGCTTGGAAAGAGGGTCTATTTGCTTGCTCATCCGATCTGTCTGGCACTGACATGAAATAATAATGGGTATGGAGGGAGAAAAAAAGGCTCTCCTAAAATGGACAGAGGAATACATAAAGCATGCCTGCAACTCAACATTGCTGAAATGTTAAACAGCTATTCAATATTGCTGAAATGTTAAACAGCTATTCAATATTGCACAAATGTCCACTCAAGTCCTTTGCTTCTGCATTTGTAAGAGTAGTACTGGATAGGGCCAGAATGGAGTTTTATTATGGGATGTGGTGACTACCTAGCCAGTAATATAAAAGTGAAAAATGGGGAAAAATC
ATCAGCCAGAGCTCCTTTTCAGACAATGACCTCATGTGATCCTTGGCTATGATCTAGGGGTGGCAGAGTAGAATGCTGGAAGCAACTGGATCCCAGATAAGAGCTGCTAGCCCACCCCTGGGCTGTTCATCTCTGTACTTACACATAGAGGAGAAACACACTTCTGTTTTCCTTTTTTTTTGAGAACCCAAAGTGCCGGGATTACACCCATGAGCCACCACACATGGCTCCACATTTTTTTTTTTGAGACAGAGTCTCACATTGTCACCCAGGCTGGAGTATAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTTTCTCAGTCTCCTGAGTAGCTGGTATTACAGGCATCCAACACCATGCCCGGCTAATATTTATATTTTTATTAGAGACAGGTTTCACCATATTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGTTTCCCAAAGTGCTAGGATTATAGGCATGTGACACCGTGCCTAGCCTTAATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAACCTCCTGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATTTTTTTTTTTTTTTTTAATGAGATGGGGGTCTCACTATGTTAACCAGGCTTGTCTTGAACTCCTCGGCTCCAGCGATCCGCCCACCTTGGCCTTCAAAAGTGCTGGCATCACAGGCGTGAGCTACTGTGCCTGACCCTCTCCCCCAGTTTTTCATGTATCCCTAATCTTTGTTTATGATGTCATTTGCCAGTGAGAATTTATTATTTTTTAGTCTGGCCTTGATGTAATGCAAGAAAAACCTTATCTTCTCCAAGATTATAAAAGTCATTCCCTTCATGCTGTCCTCTCTCTCCCCAGCGTAGTAGCTAGTGTGACCTGGGAAACATAGCCCCTACAATGCCCTGAAATGGCTCTCATCACACTCCAGATCTGAGGCCGGCCCCTGGGCCAATCGCTGTCACCTCCCTGTGGCTCTCTCCACCTGCAAACCTCACCTGCTTTCTTTCCGATCCCCAAACAGACCCTATGTGTTTAATTTCCTTGCCAGCCTTGCTCCTCCTCTAAAATACTGTATTTTTAAAGCTTAAATCAAGAAGAAATATTTGATTTGATTTCTTAAATGTCTTCTCACCATCTACAGATACCATATAATGATTTACGTTAATAGAATTGTTAATATTAAACCATCATTGCATTTCTAGAACAAACTCACTTGGTCATGCTTTCTATTTGCTAATATTTTATTTACATAATTTAAAATCTAGATTATAAGTGAGTCTCATAAGAAAATCTGTAGTTTTCTTTGTTAGGGCTATCTCCGTCAGGCTTTGGAATCAGCGTTATGCTGGCTTTGAACAGATACATGTGTAAGTTTCCTTACTTTGCTCTGGAATATTTCAGAGGGCACAGAGTTTTATTTCCTGAAGAATTAAAAGAATTTGCCTATAAAACTGTTAGGGCATGCTGCTTTGAGCAGCATGAGGAGTAGCTGATAATTAGTTTCTCAAATTTTTTCTTTGGTTATCAGTCTATGTAATTTCCTATATTCTTCTCCTAAGTCAAATTTTGTTACGTATATTCAAAATATTTGTCATAAAAATATATTTCTATTTTCTCCCTATAAAGCAATAGGCAGCCATGTGTCTACTTACAGTGGGATCGGTCCAGAGAGAGCATCTTGAACACTCCTGGCAAGGGGCTCCTGGTGAGCGGGGATGTTGGCAGAAATGGTCATATCCATTAATAGAAACTCGACAGAGGTAGCACATCTGGGCACCACAGCAGCAAGACATGCGGTTGCAGCCTTCAGATTTGATGAGGCCAGTCCCACACTTGTGGCATTTTCTAATGCGGGCAGCAGTCATTTTTTCTTCACTGAAATAAGAAAACATAATTTGGAGCTGGGAGGGAAGATGAGGAGGAAAAAAATATGGCCATTAAGCATTTATTTATTTTCACATAAAATGATCACTTATGGCTTTTTTGTGACATTAAACAGTGAAAAGAGCCTAGGTTTTGGAGTCTGAGAACTGCTTCAAAGTTTTAATTGTATGACCTTCAGTAAATTACTCACCTGCCTGGAGACTCAGTTTCCTCATTTTTAAACTGTGAAAACACAACTTTCTCATGGTGTTTTGAGAATTACAGACAAAATATAAAGTACCCTGGCATAGTGCCCAGTACTCAGCATTTAGAAAAGGACTGCTCTATTTGTTATAGGAATCCCTGTAGGCTTAAAATGGAGAGAACAGGCTGAGCATGGTGGTGCACGCCTGTAATCCCAGAACTTTGAGAGGCCAAAGCAGGAAGATCATTTGAGCTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACTGTCTCTACTAAAAATACAAAAATTTGCCAGGCGTGGTAGTGCACACCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAGAATCGCTTAAACCCGGGAGGTGAAGGCTGCAGTGAGCTGAGACCGTGTCACTGCACCCCAGCCTATGTAACAGAGTGAGACTCTATCTTAAAAAAAAAAAAAGAAAAAAAAAAAGAAAGAAAGAAAACATTGTCAAGGAGATGAGGTTTAGATAAAGTGCATTTAGTACTATTACCTTAATGAGTCACCTCTGTAGTACATCCGTTTATGATTTTAGTTACTCAGCAACTGTGAAGACACTACTCAACGTTCTACAACTCAAGGTTCTGTTTTGTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCTAGCCTGGGGCACAGTGGCTCCATCTCAGCTCACTGCAACCTCCGCCTCCCCGGGTTCAAGAGATTCTCCCACTTCAGTCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCATGCCCAGCTAAGTTTTGTATTTTTAGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCTGGCCTATTTTTTTTGAGACTCACTGCAACCTCCATTTCCTGGGTTCAAACGGTTCACATGTCTCAGCTTCCCAAGTAGCTGGCATCACAGGTGTGTGCCACCACATCACCACACCTGGCTTTCATGCCCGGCCATTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTAACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAAGCGTGAGCCACTGCGCCCAGCTAGACTCAAGGTTCTAATGAAAAACTTTTCAATTTGAAAAGCTATGTGCCCAAACACAACTGCAATTTTCTACAGCACAAACCTTCTCTGTAAGAGCACCCTGAGGCTGAGGTGCGGCTTTAAGGTGTGGCACTCCAGTTGCCTGGGGCTGGCTGACTTTCCCTGGGAAGCTGCTCAAGGAGAGAAGAGGCTGTAAAGAATTAAGGTTACAGTCTTTTCATGAAGGCTTGGAAAGAGGGTCTATTTGCTTGCTCATCCGATCTGTCTGGCACTGACATGAAATAATAATGGGTATGGAGGGAGAAAAAAAGGCTCTCCTAAAATGGACAGAGGAATACATAAAGCATGCCTGCAACTCAACATTGCTGAAATGTTAAACAGCTATTCAATATTGCTGAAATGTTAAACAGCTATTCAATATTGCACAAATGTCCACTCAAGTCCTTTGCTTCTGCATTTGTAAGAGTAGTACTGGATAGGGCCAGAATGGAGTTTTATTATGGGATGTGGTGACTACCTAGCCAGTAATATAAAAGTGAAAAATGGGGAAAAATC
Task1_train_10962
This mutation occurs in RNF216 (ring finger protein 216) on Chromosome 7. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Cerebellar ataxia-hypogonadism syndrome
GGACAATCAGAATGAAGGCTGTGCTTTGTAAGTAATTCTCCTTCCAAGAAACATCTCACAGCCTGCTACTGAGTCCTGTAGTAGTCCAGATGCCTTATCACAGGGCTGCATTCCCTCCTGGAGGCCTGAGGAGAGAGTATGTTTGCTGCTCATTTGGGTTGTCTGCAGAATTCAGTTGAGGTTGTAGGACCGGGGTCTCTATTTTCTTGGTGGCTGTCAGCTGAGGGTTTTCCCAACTTCTACAGGCTACCTCAATCCTTGGCTCATGGCCACCTTCATCCATCTTCAAAGCCAGCAACAGGGGGGTCAAGTCCTTCTCACGTTTGTTTGACTCTTCGTCCCACACTAAGGACTTTCTGCTTTTAAGGATTTGTAATTAGACTGGGTCTACTCGGATAATCCAGATAACCTCCCCATCTCAAGGTCCTTAACCATACAACCAAGGGCAAATCACATGGGCCTCAGCCGCCTCATCTGTAAGAGAATAATGGTACCCACCTGTGCTGCATACTTGGGAAACTGCCCAAATTGCCATTGCCCACTTCATTTTCTGAGTACCAAACTCCTTCCATATCCTTCATATTTAAACTGGACATAAAGTCACCCAACTACAGGCTACATACGGTGCTTGCCTTGCCCACGTGACAATCTAGACCAATGCGATACGAGCGGAAGTGAGATATATGTATATAATTCCTGTATCACTTATAACATAAAGAAAAGCTGCCTGCTTGGCAAGTTGTCTATTTCCCACTTTCTTTGGGTTTGAGTGTAAATGTGGCCACAATCTAGTTACAATCATGCAGAAGAGAATATCACCTTCAGGGAAGGGTGAAGCAGTTAGACAATCTTCTCTTTTTTTTTTTTGAGTTGGAGTCTCGCTCTGTCGCCCAGGCTGTAGTGTTGTAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCAATTCTCTTGCCTTAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCCACCACTCCTGGATAATTTTATTTTTTATTTTTTGTAGAGATGAGGTTTTACCATATTGCCCAGGCTGGTCTCAAATTCGTGAGCTCAAGCGATCTACCTGCCTTAGCCTCCCAAAATGCCAGGATTACAGGCCTGAGCTACCCTGCCCGGCTGTGAGACAATCTCTGAATAACGTCAGGAGATAGATATGCACCCTCAGCTGCATGGTAAGGCTAGATTGTTATGAGAGAAGAGAAAGAGATTTCAGTATTACTTCGGTCATTGCATTCTTTTTTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGGCAGGCTGGAGTGCACTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAACTAATTATCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAAGCGCCACCATACCCAGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGCATTTTAATAAGTGAGTATTTGTAATGTGCTCAGCCACACAGTACTATACAAGTAATGGTTATTATTATCACAGGCGTATCATTTTGTATTCTGGAGGTGGGCAATTCTACTTAGGTCTCAGGCCAACAGTTTCCTATAACACAGACATAAGCAACACTAGTGCAGTCTAAGTTAATTAAAACGCGTTACTTGCTTATTTAGAAAATAAGGAAAAGGGGGACCATCATTTATTGAATTCACAGGTGCCAGGCATTTATATGTTAGTTTGTCTTCTGAAATAACTCCATGAGGCTGCAGAGATGAGGAAACAGAGGCTCAAGGGTTAGATTACTTCCCCAAGATCACTCCAGACTGGGGTGGCTCAAGCGTGTTCTTCCGACAACAGTATGCCCTCTCTACCAAAAAGCAGGTTAATGGGGAAGTTGAGAATCAGCCCATAGCCCCTCTGAATTCTGTTACTCACATAGAGGTACGGTACTTGATGTCGTCTTTTTCAGCCAGCTCTTCACAGGTGAGGCCATTATGTTCTTTCCAGAGTCCCTGACACTTCCTACAGGTTTCCTGGGGATAAAGGACAGACACAAAGACAACTCCTGGTGAGTGGACACCACAGAAGTTCCTGTTCAACAAAAGGGATATGAAATGAGCTTTACTTGGCTTGAATTCTTTCAGAGGATGCCTCTCCTTTTCAGGGGGGATATTTCTAAAGACATCTTTTAATAGAAGAGGTTAAGAGGTGGTAGGGCTAGGTGGCTGACGCCTGTAGTACCAGCACTTTGGAAGGCTGTGGCAGGCCAGGAGTTTGAGACCAGCCTGGGCAACAGAGTGAGACCCTGTCCCTTAAAAAAAAGACAAAGAGTTGGGGGAGGAGAGGGGAGTGGTAAGAATCATTAGAAGGACGCACAAGGAAAAATTTCTCTCCCTAGATCAAAAGGAAGTGTTGCTCCCATCACTTAATTTGCATAAGCCTTTCTAAAATGCTCTGGGCCATCTGAAAAAACCAAAGGAGACGGATCTTGGGTAATCTTGGGTTTTTAAAACACAGTAGCACGAGCTGCTTGGCAGGGCCTGTTTGGATCTCGTTAATCTCTGCAAAATCCCTGTGCCCACAAGCTGGCGTCCAAAACTCGCTTCTACTGGATTGAAGAATGGCCTACTTCAGTTCACCAGGGGCTCCTAAGGGAGACTTTCCTCCGTTGCTCATCACTCATCGGCATGGATGTCACCCTTAAAAGTTTCACTTCATATATAAACATGCATCTTAAATAATCACCACCTTTATTCTAGGATCCTTCATAGTTTATAAAATGCTTTCATATGTGCCAGAAACTATCCCACATCAGTAAGAATAATTTAAAGAGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGGAATTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCATGAGGTCAGGAGATTGAAACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCCACTCAGGAGGCTGAAGCAGGAGAAAGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAATTAAAAAAAAATGTTAATCCAATGATCACAGGCATTAAATGGAAATTATAACCCTAATAGGTTACAGTGAAGGAAAACATAGTGTTGTCAGTTTTAAGTGGGGCCCTGATCTAGTCTGGGGAGACAGTGAAGGCTTGAGGAAGTGAGGCCTGAGATCCAAAGGACGAGTCAACGATGAATAGGGCGGCGAAAACAGATCAACACTCCAGACAATGGGCAGCAAGAGAAGACTCTGGCAGGCAAAGCCGGGCATGTTCAGTTCCTATGGCTGGACTGCAGACAGTAAGCATGGCCCTGGAGGCCTGCACGCACCAGACCAGGCAAGGCCTTGAAGGGCATGATGAGCAGTTTTTTCTTTATCCTATGAGCACTAGGAAGCCCCCAAAAGGTGCCAAGTACGGAAGTAACACGATCAGGTATGTCTTTTAAAAAAAATCATTCTGGGTGGAAAACACTGGAGGGAGGAAAGAGTGAACGTGCAAAAGACAGAAGCTAGTAAAGCCACTCAGGAGAGAGGCCATGAAGGCCCAGACAAGGGTGGTGGGCAAGGACAGGTAGAAAAGGGGACTGACTTGAGAGCAAGGGAGGAAGTAAGACTGGTGGGTGTAGAGATGAGTCGCCGTGCCTGGCCCTTTTGTACATTCTGAATTTTATACTATATGTGTACTATCTAATAAAAAGAATTTAAAAAGGGAGAAAAATGGAACAGAATGCTGAGGGAGCTGAGAACCTGACCCTTCTGGTGGGATGTCGTAAAAAGCCTCAATCAGGGTGGGCATGGTGGCTCACACCTACAGGTGCCTCATTCCAGCACTTTGGGAGGCCAAGGCAGGCAAATCATTT
GGACAATCAGAATGAAGGCTGTGCTTTGTAAGTAATTCTCCTTCCAAGAAACATCTCACAGCCTGCTACTGAGTCCTGTAGTAGTCCAGATGCCTTATCACAGGGCTGCATTCCCTCCTGGAGGCCTGAGGAGAGAGTATGTTTGCTGCTCATTTGGGTTGTCTGCAGAATTCAGTTGAGGTTGTAGGACCGGGGTCTCTATTTTCTTGGTGGCTGTCAGCTGAGGGTTTTCCCAACTTCTACAGGCTACCTCAATCCTTGGCTCATGGCCACCTTCATCCATCTTCAAAGCCAGCAACAGGGGGGTCAAGTCCTTCTCACGTTTGTTTGACTCTTCGTCCCACACTAAGGACTTTCTGCTTTTAAGGATTTGTAATTAGACTGGGTCTACTCGGATAATCCAGATAACCTCCCCATCTCAAGGTCCTTAACCATACAACCAAGGGCAAATCACATGGGCCTCAGCCGCCTCATCTGTAAGAGAATAATGGTACCCACCTGTGCTGCATACTTGGGAAACTGCCCAAATTGCCATTGCCCACTTCATTTTCTGAGTACCAAACTCCTTCCATATCCTTCATATTTAAACTGGACATAAAGTCACCCAACTACAGGCTACATACGGTGCTTGCCTTGCCCACGTGACAATCTAGACCAATGCGATACGAGCGGAAGTGAGATATATGTATATAATTCCTGTATCACTTATAACATAAAGAAAAGCTGCCTGCTTGGCAAGTTGTCTATTTCCCACTTTCTTTGGGTTTGAGTGTAAATGTGGCCACAATCTAGTTACAATCATGCAGAAGAGAATATCACCTTCAGGGAAGGGTGAAGCAGTTAGACAATCTTCTCTTTTTTTTTTTTGAGTTGGAGTCTCGCTCTGTCGCCCAGGCTGTAGTGTTGTAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCAATTCTCTTGCCTTAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCCACCACTCCTGGATAATTTTATTTTTTATTTTTTGTAGAGATGAGGTTTTACCATATTGCCCAGGCTGGTCTCAAATTCGTGAGCTCAAGCGATCTACCTGCCTTAGCCTCCCAAAATGCCAGGATTACAGGCCTGAGCTACCCTGCCCGGCTGTGAGACAATCTCTGAATAACGTCAGGAGATAGATATGCACCCTCAGCTGCATGGTAAGGCTAGATTGTTATGAGAGAAGAGAAAGAGATTTCAGTATTACTTCGGTCATTGCATTCTTTTTTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGGCAGGCTGGAGTGCACTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAACTAATTATCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAAGCGCCACCATACCCAGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGCATTTTAATAAGTGAGTATTTGTAATGTGCTCAGCCACACAGTACTATACAAGTAATGGTTATTATTATCACAGGCGTATCATTTTGTATTCTGGAGGTGGGCAATTCTACTTAGGTCTCAGGCCAACAGTTTCCTATAACACAGACATAAGCAACACTAGTGCAGTCTAAGTTAATTAAAACGCGTTACTTGCTTATTTAGAAAATAAGGAAAAGGGGGACCATCATTTATTGAATTCACAGGTGCCAGGCATTTATATGTTAGTTTGTCTTCTGAAATAACTCCATGAGGCTGCAGAGATGAGGAAACAGAGGCTCAAGGGTTAGATTACTTCCCCAAGATCACTCCAGACTGGGGTGGCTCAAGCGTGTTCTTCCGACAACAGTATGCCCTCTCTACCAAAAAGCAGGTTAATGGGGAAGTTGAGAATCAGCCCATAGCCCCTCTGAATTCTGTTACTCACATAGAGGTACAGTACTTGATGTCGTCTTTTTCAGCCAGCTCTTCACAGGTGAGGCCATTATGTTCTTTCCAGAGTCCCTGACACTTCCTACAGGTTTCCTGGGGATAAAGGACAGACACAAAGACAACTCCTGGTGAGTGGACACCACAGAAGTTCCTGTTCAACAAAAGGGATATGAAATGAGCTTTACTTGGCTTGAATTCTTTCAGAGGATGCCTCTCCTTTTCAGGGGGGATATTTCTAAAGACATCTTTTAATAGAAGAGGTTAAGAGGTGGTAGGGCTAGGTGGCTGACGCCTGTAGTACCAGCACTTTGGAAGGCTGTGGCAGGCCAGGAGTTTGAGACCAGCCTGGGCAACAGAGTGAGACCCTGTCCCTTAAAAAAAAGACAAAGAGTTGGGGGAGGAGAGGGGAGTGGTAAGAATCATTAGAAGGACGCACAAGGAAAAATTTCTCTCCCTAGATCAAAAGGAAGTGTTGCTCCCATCACTTAATTTGCATAAGCCTTTCTAAAATGCTCTGGGCCATCTGAAAAAACCAAAGGAGACGGATCTTGGGTAATCTTGGGTTTTTAAAACACAGTAGCACGAGCTGCTTGGCAGGGCCTGTTTGGATCTCGTTAATCTCTGCAAAATCCCTGTGCCCACAAGCTGGCGTCCAAAACTCGCTTCTACTGGATTGAAGAATGGCCTACTTCAGTTCACCAGGGGCTCCTAAGGGAGACTTTCCTCCGTTGCTCATCACTCATCGGCATGGATGTCACCCTTAAAAGTTTCACTTCATATATAAACATGCATCTTAAATAATCACCACCTTTATTCTAGGATCCTTCATAGTTTATAAAATGCTTTCATATGTGCCAGAAACTATCCCACATCAGTAAGAATAATTTAAAGAGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGGAATTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCATGAGGTCAGGAGATTGAAACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCCACTCAGGAGGCTGAAGCAGGAGAAAGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAATTAAAAAAAAATGTTAATCCAATGATCACAGGCATTAAATGGAAATTATAACCCTAATAGGTTACAGTGAAGGAAAACATAGTGTTGTCAGTTTTAAGTGGGGCCCTGATCTAGTCTGGGGAGACAGTGAAGGCTTGAGGAAGTGAGGCCTGAGATCCAAAGGACGAGTCAACGATGAATAGGGCGGCGAAAACAGATCAACACTCCAGACAATGGGCAGCAAGAGAAGACTCTGGCAGGCAAAGCCGGGCATGTTCAGTTCCTATGGCTGGACTGCAGACAGTAAGCATGGCCCTGGAGGCCTGCACGCACCAGACCAGGCAAGGCCTTGAAGGGCATGATGAGCAGTTTTTTCTTTATCCTATGAGCACTAGGAAGCCCCCAAAAGGTGCCAAGTACGGAAGTAACACGATCAGGTATGTCTTTTAAAAAAAATCATTCTGGGTGGAAAACACTGGAGGGAGGAAAGAGTGAACGTGCAAAAGACAGAAGCTAGTAAAGCCACTCAGGAGAGAGGCCATGAAGGCCCAGACAAGGGTGGTGGGCAAGGACAGGTAGAAAAGGGGACTGACTTGAGAGCAAGGGAGGAAGTAAGACTGGTGGGTGTAGAGATGAGTCGCCGTGCCTGGCCCTTTTGTACATTCTGAATTTTATACTATATGTGTACTATCTAATAAAAAGAATTTAAAAAGGGAGAAAAATGGAACAGAATGCTGAGGGAGCTGAGAACCTGACCCTTCTGGTGGGATGTCGTAAAAAGCCTCAATCAGGGTGGGCATGGTGGCTCACACCTACAGGTGCCTCATTCCAGCACTTTGGGAGGCCAAGGCAGGCAAATCATTT
Task1_train_10963
This variant affects gene RNF216 (ring finger protein 216) located on Chromosome 7. Evaluate its biological effect and specify any disease association.
Pathogenic; Cerebellar ataxia-hypogonadism syndrome
AAGTGACTTTAAAATATTTTAAATATTGAATAATGTTATTAATATTATTAAGAACCAAGACTTTTAGCATCAGAGAAAAGAAAGTTGGCAGGGCATGGTGGTGCATGCCTGTAACCCCAACAATTTGGGCGGCTGAGTTGGGAGGACGGCTTGAGGCCAGAAGTTCGAGACCAGCCTGGACAGCATGGGGAAACCCAGGCTCTACAAAAAAAGTTAGCCAGGTGTGGTGGTGCACACCTGCAGTCCCAATTACTCAGGAGGTTGAGATGGAAGGACTGCTTGAGCCCAGGAGGTAGGTTGAAGCAGTAAGCCATGATTGCATCACTGCACTCCAGCCTAAGTAACACATGGAGCTCCTCTGTCAAAAAAGAAAAGAAAAAAGCAAAGAAGGTACTTTGGAAAATTGTTGAGTCCAGGTCTGAGAAAGCAGAAGCTGAAACGGGGTCATTTGGCTGTGCCCAAAAGCAAAGATGTTGTCAGAGACTACAGGGGTCGGGTTAAGAGAGACTAACTTGAAGGGGCAGCCAATAGTCAGAGATGGGACAATGTGAATATCACCAAGAATAAAAGACTACAATGAACTACATTCATCAATTTGCCAATACTTTAAATACTTATCTGATAAGATTGGTGATATCAATGAATGTCATTCTATAACAGATGGATCAAAACAATAAATTCTAATTTCTGCTTAAAATCTAGAATTTTGGTCAAAAATAATCACTTCATTCATTTTTGAGAAAATGCCTGCCAAATACCTATTTTGAATAATCATAGTTTTTCTGTCACTTTTTTCCAAGTAAAAAGTGGCCAATGCAGCTGCTTTGTGGCTCAGTTGCATAAGTGCTTTCCTCATACCTGGATATAAGACAAGCTTCATATCCTGGGATGTGGCAGAAGCACTTTATGAAGACTTCATTTTATTACACAGAATATTGAAAAGATGTTTCCAACGGTCAAAACTTGGTAAAGTAATTTTTACTGCTTTATCAAAGACATTTTCAGGTGAAACTGGTGTGTCTTAAAAATGTAAGTGCATGGTGGTGAAGAAAACAATGATTGTGACGATGGCTCTACGACACTGGCCTGATTCATGCCAAGGCACCACTGCTTTTGTTCTGCTGGTACAAACTCAATATGGTGAAAAAGCAAATATAGCTGAGCTTGATCAACAGAGATGTGAACTGTGGGGACCCACTTATGTGCTGATTTTCTTCTGCTTCTGCCACCCTGAGACAGCAAAACCAACACACCCCTCCTCCTCAGCCTACTCAACGTGAAGACCATGAAGATAAAGACCTTCTCATGCTGATCCACACTTCCATTTAATGAATATGAAATATATTTTCCTTCTCATTTTCTTAATAACGTTTTCTCTAGCTTACCTTATTCTAAGAATACAGCATGTAATACACAAAACATACCAAACGTGCTCATCGACTATTATGGGTAAGGCTTCCTGTCAACGGTAGGCTGTTCACAGTGAAGTTTTGGGGCAGTCAAACATTATATGCTGACTTTCAGCTGCACAGGGGGAAGCACTCCTAACTTTCATGTTGTTCAAGGGTCACTGTAATGTCTTAGCATAGTTATAAGAGGTTTGACCTCGCAGACCCCCAAGAGAGTCTTGGGAAACCCAGGGATCTCTGGGTCACACTTTGAGAGCCACTGGTTTAGAAGATACTTATTAAACAACCAATATATACATTCCAGCTGACTTGCACATTTGATACTATATTTAGAAAAATTAAAGAGCGAAATGGAACCGAGGCTGAGGGAGGAGGTAAAATAGATACACTAAGCTCCAATTAAAATTTTCTAACATGAATCTGATTTATGAAACCACAAACATAAGTATTATGACAAAATCCAGGTTTTTTCTTTTAAAAACTTTGCATATATCCAAATTTAACAGTCTGAAGAAAAGGGAAATCTTAAAAGACAGTTTTGTACTAACTAAACCCTAAGAGCAAACCAGAATCCCAGAAACACACCCCAAGACCAGAGCACATCTTCCTACCTCTGCCATCTCTTTGATTTTCTGCTCATAGAACTCCTGCTCTTGTTGCACAGCTGGAAGGAGAGCACGTCGGTCATAGGACCTACAATGTCGTCGCTTATTTTCAAGAAAGAACATCCTCTTTTCTATTTTTATGTCACCTAGAAGATATACGACAATGCAAAAGCATGCAGACAACTATGTGTTAGGAACCTGGGCCAGCCATGTCCATTCTTCCCGGCCTCATCCTCCACCTTCTCTCTGATGGTACGTTTCATGACTTTTCTATCACATTCTACCATTTGGGAAGACTGGGCTTCTTACCATTAGCCAACCTACCATCCATTTTTTGACCTTTCTGATTCTTTCCCTCTGTTTATGCTCCAATTGGAAGGCATCTCCTATCCTGTCACTAGTGTACTATGTGAATATACCACAATTTATTATCTATTTCACTACTGAGGACATTTGGGTTTGCTGTTTTGGGTTAATCTGAATAGCGCTGCTTATAGCCATTTGTTGGTGAATGTATGTCCGCAATTTACCTGCGAATTGCTAGATCATGGGATAGGCTTACTTCCAGCTTCAGAAAATAATGCCAGTTTTCCAAAGTGGTTGTACCAGTTTACACCCTTCCTCCATCAGCAATGCATGTGAGTTCCAGTCTCTCCATGTCCTTACCAACACCTATCATCGGTTTTTAATTTTAGCCATTCTGGTGGGTGCAAATGTGCTGTATGATTTTCAACCATTTTTATTTTCAAAGCATTCAAATATACAAGGGGCTGAAGGAACAGTACCTAGATTCACCACAATATATTATAACATGAGAATAAAAGAGAGCAGAATAACAAATATTAGACACGTAAATGATCTGTTTAGGTTTTGTACTTGTTTCACTGATTTGGCAATTTATGATTTTCTTTTTGGAGACAGAGCCTTGCTCTGCTGCTCACGCTGGAGTGCAGTGGCACATTCACAGATCACTGCAGCCTCAACTCCTGGGCTCAGGCAATCCTCCCGCCTCAGCCTCCTGAGGAGCTGGGACTATACAGGCAGATGCCACCACACCCAGCTAATTTTTTTGTATTTTTTTAGAGATGGGATTTTGCCATGTTGTCCAGGCTGGTCTTGAAGTCCTGGGCTAAATGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACAACGCCTGGCCAATTTATGTTTTTCTAGAAAACTTTATCTCATTCAGATTTTCAATTTACTCTTGTCTGTTCTTGGTAATCTCTTGATTTTAATATTTACTATCTGGTTCCTAATACATTTTATTTTGATTCTCCTTTTCTCTTGCTCATTCTCATGTTTTTTTTTTTGTTTGTTTGTTTGTTTTGTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCAAGGGTGCAGTGGTGCGATCTCGGCTCACTGTCAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAAAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCCGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCCAGGATTACAGGCATGAGCCACCGCGCCCAGCCTCTCATGTTTTTTTAAATTCAAACCTTTTCTTCAGAAAACCAGTTTTTGGGGCCAGGCGCAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCACATCATCTAAGGTTAGGAGTTCGAGACCAACCTGTCCAACATGGTGAAACCCCCCAGGCATGATGGCGCACACCTGTAATTAATTCCAGCTACTTGCGAGGCTGAGGCAGGAGAATCGCTTGAGCTTGGGAAGTGGACTCCGTCTTAAAATTAAAAAAAACAACAGCAACAAAAAAAATCAGTTTTTGGTATTATGAGAATAGAAAAGCACGTGGTTAGACAGTAAGCTTTGAAGCCAGATTCCCAGCTGGGCTACTCGCTAGCTGTGTAACATCTGCCAAGTTACTTAACCTCTCTGTGCTTCACTTTTT
AAGTGACTTTAAAATATTTTAAATATTGAATAATGTTATTAATATTATTAAGAACCAAGACTTTTAGCATCAGAGAAAAGAAAGTTGGCAGGGCATGGTGGTGCATGCCTGTAACCCCAACAATTTGGGCGGCTGAGTTGGGAGGACGGCTTGAGGCCAGAAGTTCGAGACCAGCCTGGACAGCATGGGGAAACCCAGGCTCTACAAAAAAAGTTAGCCAGGTGTGGTGGTGCACACCTGCAGTCCCAATTACTCAGGAGGTTGAGATGGAAGGACTGCTTGAGCCCAGGAGGTAGGTTGAAGCAGTAAGCCATGATTGCATCACTGCACTCCAGCCTAAGTAACACATGGAGCTCCTCTGTCAAAAAAGAAAAGAAAAAAGCAAAGAAGGTACTTTGGAAAATTGTTGAGTCCAGGTCTGAGAAAGCAGAAGCTGAAACGGGGTCATTTGGCTGTGCCCAAAAGCAAAGATGTTGTCAGAGACTACAGGGGTCGGGTTAAGAGAGACTAACTTGAAGGGGCAGCCAATAGTCAGAGATGGGACAATGTGAATATCACCAAGAATAAAAGACTACAATGAACTACATTCATCAATTTGCCAATACTTTAAATACTTATCTGATAAGATTGGTGATATCAATGAATGTCATTCTATAACAGATGGATCAAAACAATAAATTCTAATTTCTGCTTAAAATCTAGAATTTTGGTCAAAAATAATCACTTCATTCATTTTTGAGAAAATGCCTGCCAAATACCTATTTTGAATAATCATAGTTTTTCTGTCACTTTTTTCCAAGTAAAAAGTGGCCAATGCAGCTGCTTTGTGGCTCAGTTGCATAAGTGCTTTCCTCATACCTGGATATAAGACAAGCTTCATATCCTGGGATGTGGCAGAAGCACTTTATGAAGACTTCATTTTATTACACAGAATATTGAAAAGATGTTTCCAACGGTCAAAACTTGGTAAAGTAATTTTTACTGCTTTATCAAAGACATTTTCAGGTGAAACTGGTGTGTCTTAAAAATGTAAGTGCATGGTGGTGAAGAAAACAATGATTGTGACGATGGCTCTACGACACTGGCCTGATTCATGCCAAGGCACCACTGCTTTTGTTCTGCTGGTACAAACTCAATATGGTGAAAAAGCAAATATAGCTGAGCTTGATCAACAGAGATGTGAACTGTGGGGACCCACTTATGTGCTGATTTTCTTCTGCTTCTGCCACCCTGAGACAGCAAAACCAACACACCCCTCCTCCTCAGCCTACTCAACGTGAAGACCATGAAGATAAAGACCTTCTCATGCTGATCCACACTTCCATTTAATGAATATGAAATATATTTTCCTTCTCATTTTCTTAATAACGTTTTCTCTAGCTTACCTTATTCTAAGAATACAGCATGTAATACACAAAACATACCAAACGTGCTCATCGACTATTATGGGTAAGGCTTCCTGTCAACGGTAGGCTGTTCACAGTGAAGTTTTGGGGCAGTCAAACATTATATGCTGACTTTCAGCTGCACAGGGGGAAGCACTCCTAACTTTCATGTTGTTCAAGGGTCACTGTAATGTCTTAGCATAGTTATAAGAGGTTTGACCTCGCAGACCCCCAAGAGAGTCTTGGGAAACCCAGGGATCTCTGGGTCACACTTTGAGAGCCACTGGTTTAGAAGATACTTATTAAACAACCAATATATACATTCCAGCTGACTTGCACATTTGATACTATATTTAGAAAAATTAAAGAGCGAAATGGAACCGAGGCTGAGGGAGGAGGTAAAATAGATACACTAAGCTCCAATTAAAATTTTCTAACATGAATCTGATTTATGAAACCACAAACATAAGTATTATGACAAAATCCAGGTTTTTTCTTTTAAAAACTTTGCATATATCCAAATTTAACAGTCTGAAGAAAAGGGAAATCTTAAAAGACAGTTTTGTACTAACTAAACCCTAAGAGCAAACCAGAATCCCAGAAACACACCCCAAGACCAGAGCACATCTTCCTACCTCTGCCATCTCTTTGATTTTCTGCTCACAGAACTCCTGCTCTTGTTGCACAGCTGGAAGGAGAGCACGTCGGTCATAGGACCTACAATGTCGTCGCTTATTTTCAAGAAAGAACATCCTCTTTTCTATTTTTATGTCACCTAGAAGATATACGACAATGCAAAAGCATGCAGACAACTATGTGTTAGGAACCTGGGCCAGCCATGTCCATTCTTCCCGGCCTCATCCTCCACCTTCTCTCTGATGGTACGTTTCATGACTTTTCTATCACATTCTACCATTTGGGAAGACTGGGCTTCTTACCATTAGCCAACCTACCATCCATTTTTTGACCTTTCTGATTCTTTCCCTCTGTTTATGCTCCAATTGGAAGGCATCTCCTATCCTGTCACTAGTGTACTATGTGAATATACCACAATTTATTATCTATTTCACTACTGAGGACATTTGGGTTTGCTGTTTTGGGTTAATCTGAATAGCGCTGCTTATAGCCATTTGTTGGTGAATGTATGTCCGCAATTTACCTGCGAATTGCTAGATCATGGGATAGGCTTACTTCCAGCTTCAGAAAATAATGCCAGTTTTCCAAAGTGGTTGTACCAGTTTACACCCTTCCTCCATCAGCAATGCATGTGAGTTCCAGTCTCTCCATGTCCTTACCAACACCTATCATCGGTTTTTAATTTTAGCCATTCTGGTGGGTGCAAATGTGCTGTATGATTTTCAACCATTTTTATTTTCAAAGCATTCAAATATACAAGGGGCTGAAGGAACAGTACCTAGATTCACCACAATATATTATAACATGAGAATAAAAGAGAGCAGAATAACAAATATTAGACACGTAAATGATCTGTTTAGGTTTTGTACTTGTTTCACTGATTTGGCAATTTATGATTTTCTTTTTGGAGACAGAGCCTTGCTCTGCTGCTCACGCTGGAGTGCAGTGGCACATTCACAGATCACTGCAGCCTCAACTCCTGGGCTCAGGCAATCCTCCCGCCTCAGCCTCCTGAGGAGCTGGGACTATACAGGCAGATGCCACCACACCCAGCTAATTTTTTTGTATTTTTTTAGAGATGGGATTTTGCCATGTTGTCCAGGCTGGTCTTGAAGTCCTGGGCTAAATGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACAACGCCTGGCCAATTTATGTTTTTCTAGAAAACTTTATCTCATTCAGATTTTCAATTTACTCTTGTCTGTTCTTGGTAATCTCTTGATTTTAATATTTACTATCTGGTTCCTAATACATTTTATTTTGATTCTCCTTTTCTCTTGCTCATTCTCATGTTTTTTTTTTTGTTTGTTTGTTTGTTTTGTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCAAGGGTGCAGTGGTGCGATCTCGGCTCACTGTCAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAAAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCCGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCCAGGATTACAGGCATGAGCCACCGCGCCCAGCCTCTCATGTTTTTTTAAATTCAAACCTTTTCTTCAGAAAACCAGTTTTTGGGGCCAGGCGCAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCACATCATCTAAGGTTAGGAGTTCGAGACCAACCTGTCCAACATGGTGAAACCCCCCAGGCATGATGGCGCACACCTGTAATTAATTCCAGCTACTTGCGAGGCTGAGGCAGGAGAATCGCTTGAGCTTGGGAAGTGGACTCCGTCTTAAAATTAAAAAAAACAACAGCAACAAAAAAAATCAGTTTTTGGTATTATGAGAATAGAAAAGCACGTGGTTAGACAGTAAGCTTTGAAGCCAGATTCCCAGCTGGGCTACTCGCTAGCTGTGTAACATCTGCCAAGTTACTTAACCTCTCTGTGCTTCACTTTTT
Task1_train_10964
A variant on Chromosome 7 in gene RNF216 (ring finger protein 216) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Cerebellar ataxia-hypogonadism syndrome
ACATTTTAGTCCTCATCTTGCACAAACTCTTAGCAGCATTTAATAACATAGGCTGGGCATGGTGGCAACCCAGTGCTTTAGGAGGTGGAGGTGGGAGGATAGCCTGAGGCCAGGAGTTCAAGACCAGCCTGCACAATCTAGCAAGACCCCATTTCTACAAAAAATGAAATAAAAAGATCATCCAGGTGTGGTGGCGTGCACCTGTAGTCCTAGCTACATGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCCAGGTCAAGGTTGCAATAAGCCACGATTGGGCCACTGTACTCCAGCCTGGGTGAGAGAGAGAGACCCTGTTTCTAAACAAGAATAACCATGATGATGATGATAATAATACAGACTGCTCCAGTCTCTCAACTTCCTCCTTCCTGTCTGCCTGCCTCCTCCGCTTGGTCTTTGCATGTCAGGAGTCCTCTCTTCTCACCTGGTATCTCTGGGTACCTCATCCTGGCTGGTGAGATTTTCCATATGCTGATGACTCTCAAAGTCCTATCACCATAAAACCCAAGGAGATTAAAAAAAAAAATCCTATCTACAGTCTGTATTTTCCAAACTTTCTAGTCCATTCAACCTCCCAATGAATTATTTTTACTCAGATGTCTCACAGGCCCTTCTCAGCACATTGGCAACCAACGTTTCCCAGACTGAATTCGTGATTATTTCTCTCCAAAGCAGATGTTTATACTAGTTCTCACCCCAATAAATGATACTAACATCTTCCACGACCCCTTTCACCAAACTCCTATGTGGGTCTGTGATTAAATGTCCCTTCCTCAGGGTGGCCCTTCTGGAGACCCTTGGTCTACCTTAGGTTGCCTCCCGTTTTACCCTTTCAAAGCCCCTCTATTTTTCTTTCAGTCTTTTTTTTTGGCCAGGCACGGTGGCTCATGTAGGTAATCCCAGCACTGTGGGAGGCTGAGGTGGGCAGATCATCTGAGGTCAGGAGTTGCTGACCAGCTTGGCCGAAATGGTGAAACCCCATCTTTACTAAAAATACCAACCAGGCGCGGTGGTGAGCACCTACAGTCCCAGCTACTCAGGAGGCTGAGACAGAAGAATTGCTTGAACTGGGGAGGCAGAGGCTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAGAAAAAGAAAAAGAAAAAGAAAAGGTGGAAGGGGCTTGGCCTAGACCTTAGCATGAGCCACAGTCCTTGGCTTGGTTCTTCCCTTCCTACAGGTAAGACCCAATGAGTATTTTAACCACTACGATAACTCCACGTTTGTCCTTTGGACAAAAGAAACATCACTGTGTTTGCTGAGAATCACAAGAATTTCAGTAGAATACAATTTAACGGCAGTAAGAGCGACCAAGAGGAGTAAGCCAAGGTCTCTGCTGGTGCGTGCGCTCCTGTTCTGGCCACAGCTACAAAGCAGGCACTGTGTGCTGTCCTTCATGGAAGACGCCTGTGTTACCCACCACAAACCAGCACCCTCCTCACCCTCAACCAAGGCCTTTAAGTGCCATCTATTTTAGGATCCTGCGGGGAGAACGCTGGGAGCTGTCAGTAGCTGCCCACTCTCTTCTGAGGGGGCACTGCTGTGTTCCCGGACTCTCTACAGACCTTACGTCCTATCACTGGTAACTGAGCCACCTGGGGGATGGATGGTCGTGTGACCTGTCCCAAGTTGGAAAGCAAATCAGGAAGGAGCAGCATTAGAATGCATCTTTCACACTCCTGCATTCCACAGTAGAAGGTATTACACTCCATGTTTTTACGGTCAAAGCAGAACTTCTCTGCTTCTCATCTATCTATTATTTCTTTTCATTTAGTCCGTCACGATGAGCAAATACCCATCTATTTATCTTCACCCTAATAAATTCCTTAGCAATCATAAACCATCCCAATTTCCACAAGCTGAACTGTTCATTCTGTTACCATGGGAAGATGTAGTCAAGAGGTGTGACCCCAACAGGAAGACCAAGTAGAGTACCTTTCGGGTGATTGCATAGTGTCCTTTGAGCTCGTGCAGGGCCCACTTGATGTCCTGACTACTGAGCACTTTGAAGTCGGCCATGAGGAGGTCAGCAGCTTGGATGAAGCAGCGCTGGTCAAGAGGGGTCAATTTAGAATAGTCAAAAAAGTCTATTTTAGGCAACTGAAATGAGAGAGAAGCATAAAATCAGAGGCCAGGCAGTACATTTCCCATACAGGGGAAATCATTTTAAGAATTACATGTGTAGAAAAGAATAACATTTGTTCTAATTACTCTATAAGGAAGTTACCAGCCCTATAAGACAGATGAGAAAACGGTGGCTCAGAGAGGTTAAACAAACCTGTCTGGAGCCGACAGACTAGTTTTACTACTAAAGAAGTATAGTTGGGGATTTAAACCAATCTTACAGCCATCTTCTTTCCATACCATATTTACGAACAACTATTTTTTTTCTATTACAGAATACGTAAGAGAGACAGTCAAAGAATCTATGGGGAGTTGGAAGATCAAGCAACAGATCTTAATAAAGTTAGTTCTCAACCATACTTGACCATATAACACACTAAATGCCAGTTTAGATCACAAATAATGACAATGATTGAAGTTTTTAAAAACCAAACTGTTTACATCTTGATATGAGATCTGGTTAAACAGATGTATAGTATACGCTGTATACAAATCTCACATCAAAAGAAAAAAGATATTCCACTCTGGGTAATGACCTGCATGCTGAAGTACTTAGAGGGAAGTGTACTCATGTTTTTGCAATTTACTTTGAAATGCATTATCATGAAATGAAACATAACAAAGTTGTGCTGATGGACAGACAGAGGACATATGTATGATAAAGAGGATACAGTAAACTGTTAACTAGTACCAGTGGTAGGTATATAAATGATCAACGTAAAATATTTCAATTTTTCTGTAGGTTTGAAAATTTTCATAATAAAATGTTAAGAGTTTTGGCCAATTCTTGTTTTGCTTTAGGAATTTGCTTTGTAGGATTAAAGATATGGAGAATTCGTTCAATTCTTTGTGGGAAAAGGAAGATAAGAATTACAAGGAAAGATAGAAGTTAAAGACAGACAGAATTCAAAGTGGCTCAGACTGGGAGATCGCACTGAAGTATAGATATATTCTGAAATCCTATGTCCCTCGGCTAGTCTTTAAAAACTTGTCCCAACAAAGCACTTTCTTCCCACAGAGATAACAACAACAACAACAACAACAAAGCACAGCATTTCCAGGCAGTGACTGCAAAACATGAACATGACACTTGCCTTTGTCTCATCTTGGCTGGCCAGCAGACTGCTACTGGGATTTATAATGATTCTGTCTTCTCTCTTTGGATAATCTGGGTTTTCCAGAAGAAAATTACAAAGTCTGCAGAAACAAATGATGTTACTTTCATACTGCTTCCAAATCCCACACCTGCCCATTGCTTCAAATGCAATGGTTGAAGAATATAGTCCTTAGTCACACATTACAACTGGCCTATCAAGAAATTAAGATGTTTGTAGCCCAGAAAAACTAAACCAATAAACAAACAACTGCACTGAATTTCTATCTTTGTGAAAGACAAAAAAATTTAAAAAGCAATGAACATACTGATTAAGGCAAACTCCTCTGAAGTTTATGTATCAATTGGGTGTTAATGTAATGAAGTCACTGAAACTATTATTGGTTAAACTACAAAACTGGAAAATTTTAAGAAAAGCAGCTACTCTTTGTCGAGAAAACTATGAACAAGTAAGAAGTGGAAAACTGTGTGTTCACATTTACAGTAAAAAACAGTCTGCTAAGAGATGTAATAAATGAAATATAAAAGACCTTCTGTTAATTCATTAATACTTTTTATACCCCTGTGGTAACATAAATCTCTATGGTAATAATAAAGCTCTATGAGCCATTGAGTTACACGTGGTTTATTTAGCTAGCTGCCAAGCTAGACTGATGAACAGATCATGTTTTCCTATGAACAGACTCTCTTCACACAAAACCCACTAGCTTTGTCTATTATCACCATGAAATACTTCCAAAGTAAGGCTATATAGAGTGAGATAACAC
ACATTTTAGTCCTCATCTTGCACAAACTCTTAGCAGCATTTAATAACATAGGCTGGGCATGGTGGCAACCCAGTGCTTTAGGAGGTGGAGGTGGGAGGATAGCCTGAGGCCAGGAGTTCAAGACCAGCCTGCACAATCTAGCAAGACCCCATTTCTACAAAAAATGAAATAAAAAGATCATCCAGGTGTGGTGGCGTGCACCTGTAGTCCTAGCTACATGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCCAGGTCAAGGTTGCAATAAGCCACGATTGGGCCACTGTACTCCAGCCTGGGTGAGAGAGAGAGACCCTGTTTCTAAACAAGAATAACCATGATGATGATGATAATAATACAGACTGCTCCAGTCTCTCAACTTCCTCCTTCCTGTCTGCCTGCCTCCTCCGCTTGGTCTTTGCATGTCAGGAGTCCTCTCTTCTCACCTGGTATCTCTGGGTACCTCATCCTGGCTGGTGAGATTTTCCATATGCTGATGACTCTCAAAGTCCTATCACCATAAAACCCAAGGAGATTAAAAAAAAAAATCCTATCTACAGTCTGTATTTTCCAAACTTTCTAGTCCATTCAACCTCCCAATGAATTATTTTTACTCAGATGTCTCACAGGCCCTTCTCAGCACATTGGCAACCAACGTTTCCCAGACTGAATTCGTGATTATTTCTCTCCAAAGCAGATGTTTATACTAGTTCTCACCCCAATAAATGATACTAACATCTTCCACGACCCCTTTCACCAAACTCCTATGTGGGTCTGTGATTAAATGTCCCTTCCTCAGGGTGGCCCTTCTGGAGACCCTTGGTCTACCTTAGGTTGCCTCCCGTTTTACCCTTTCAAAGCCCCTCTATTTTTCTTTCAGTCTTTTTTTTTGGCCAGGCACGGTGGCTCATGTAGGTAATCCCAGCACTGTGGGAGGCTGAGGTGGGCAGATCATCTGAGGTCAGGAGTTGCTGACCAGCTTGGCCGAAATGGTGAAACCCCATCTTTACTAAAAATACCAACCAGGCGCGGTGGTGAGCACCTACAGTCCCAGCTACTCAGGAGGCTGAGACAGAAGAATTGCTTGAACTGGGGAGGCAGAGGCTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAGAAAAAGAAAAAGAAAAAGAAAAGGTGGAAGGGGCTTGGCCTAGACCTTAGCATGAGCCACAGTCCTTGGCTTGGTTCTTCCCTTCCTACAGGTAAGACCCAATGAGTATTTTAACCACTACGATAACTCCACGTTTGTCCTTTGGACAAAAGAAACATCACTGTGTTTGCTGAGAATCACAAGAATTTCAGTAGAATACAATTTAACGGCAGTAAGAGCGACCAAGAGGAGTAAGCCAAGGTCTCTGCTGGTGCGTGCGCTCCTGTTCTGGCCACAGCTACAAAGCAGGCACTGTGTGCTGTCCTTCATGGAAGACGCCTGTGTTACCCACCACAAACCAGCACCCTCCTCACCCTCAACCAAGGCCTTTAAGTGCCATCTATTTTAGGATCCTGCGGGGAGAACGCTGGGAGCTGTCAGTAGCTGCCCACTCTCTTCTGAGGGGGCACTGCTGTGTTCCCGGACTCTCTACAGACCTTACGTCCTATCACTGGTAACTGAGCCACCTGGGGGATGGATGGTCGTGTGACCTGTCCCAAGTTGGAAAGCAAATCAGGAAGGAGCAGCATTAGAATGCATCTTTCACACTCCTGCATTCCACAGTAGAAGGTATTACACTCCATGTTTTTACGGTCAAAGCAGAACTTCTCTGCTTCTCATCTATCTATTATTTCTTTTCATTTAGTCCGTCACGATGAGCAAATACCCATCTATTTATCTTCACCCTAATAAATTCCTTAGCAATCATAAACCATCCCAATTTCCACAAGCTGAACTGTTCATTCTGTTACCATGGGAAGATGTAGTCAAGAGGTGTGACCCCAACAGGAAGACCAAGTAGAGTACCTTTCGGGTGATTGCATAGTGTTCTTTGAGCTCGTGCAGGGCCCACTTGATGTCCTGACTACTGAGCACTTTGAAGTCGGCCATGAGGAGGTCAGCAGCTTGGATGAAGCAGCGCTGGTCAAGAGGGGTCAATTTAGAATAGTCAAAAAAGTCTATTTTAGGCAACTGAAATGAGAGAGAAGCATAAAATCAGAGGCCAGGCAGTACATTTCCCATACAGGGGAAATCATTTTAAGAATTACATGTGTAGAAAAGAATAACATTTGTTCTAATTACTCTATAAGGAAGTTACCAGCCCTATAAGACAGATGAGAAAACGGTGGCTCAGAGAGGTTAAACAAACCTGTCTGGAGCCGACAGACTAGTTTTACTACTAAAGAAGTATAGTTGGGGATTTAAACCAATCTTACAGCCATCTTCTTTCCATACCATATTTACGAACAACTATTTTTTTTCTATTACAGAATACGTAAGAGAGACAGTCAAAGAATCTATGGGGAGTTGGAAGATCAAGCAACAGATCTTAATAAAGTTAGTTCTCAACCATACTTGACCATATAACACACTAAATGCCAGTTTAGATCACAAATAATGACAATGATTGAAGTTTTTAAAAACCAAACTGTTTACATCTTGATATGAGATCTGGTTAAACAGATGTATAGTATACGCTGTATACAAATCTCACATCAAAAGAAAAAAGATATTCCACTCTGGGTAATGACCTGCATGCTGAAGTACTTAGAGGGAAGTGTACTCATGTTTTTGCAATTTACTTTGAAATGCATTATCATGAAATGAAACATAACAAAGTTGTGCTGATGGACAGACAGAGGACATATGTATGATAAAGAGGATACAGTAAACTGTTAACTAGTACCAGTGGTAGGTATATAAATGATCAACGTAAAATATTTCAATTTTTCTGTAGGTTTGAAAATTTTCATAATAAAATGTTAAGAGTTTTGGCCAATTCTTGTTTTGCTTTAGGAATTTGCTTTGTAGGATTAAAGATATGGAGAATTCGTTCAATTCTTTGTGGGAAAAGGAAGATAAGAATTACAAGGAAAGATAGAAGTTAAAGACAGACAGAATTCAAAGTGGCTCAGACTGGGAGATCGCACTGAAGTATAGATATATTCTGAAATCCTATGTCCCTCGGCTAGTCTTTAAAAACTTGTCCCAACAAAGCACTTTCTTCCCACAGAGATAACAACAACAACAACAACAACAAAGCACAGCATTTCCAGGCAGTGACTGCAAAACATGAACATGACACTTGCCTTTGTCTCATCTTGGCTGGCCAGCAGACTGCTACTGGGATTTATAATGATTCTGTCTTCTCTCTTTGGATAATCTGGGTTTTCCAGAAGAAAATTACAAAGTCTGCAGAAACAAATGATGTTACTTTCATACTGCTTCCAAATCCCACACCTGCCCATTGCTTCAAATGCAATGGTTGAAGAATATAGTCCTTAGTCACACATTACAACTGGCCTATCAAGAAATTAAGATGTTTGTAGCCCAGAAAAACTAAACCAATAAACAAACAACTGCACTGAATTTCTATCTTTGTGAAAGACAAAAAAATTTAAAAAGCAATGAACATACTGATTAAGGCAAACTCCTCTGAAGTTTATGTATCAATTGGGTGTTAATGTAATGAAGTCACTGAAACTATTATTGGTTAAACTACAAAACTGGAAAATTTTAAGAAAAGCAGCTACTCTTTGTCGAGAAAACTATGAACAAGTAAGAAGTGGAAAACTGTGTGTTCACATTTACAGTAAAAAACAGTCTGCTAAGAGATGTAATAAATGAAATATAAAAGACCTTCTGTTAATTCATTAATACTTTTTATACCCCTGTGGTAACATAAATCTCTATGGTAATAATAAAGCTCTATGAGCCATTGAGTTACACGTGGTTTATTTAGCTAGCTGCCAAGCTAGACTGATGAACAGATCATGTTTTCCTATGAACAGACTCTCTTCACACAAAACCCACTAGCTTTGTCTATTATCACCATGAAATACTTCCAAAGTAAGGCTATATAGAGTGAGATAACAC
Task1_train_10965
The following genetic variant occurs in PMS2 (PMS1 homolog 2, mismatch repair system component) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Hereditary cancer-predisposing syndrome
AGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATCTTTAATGAGAAATGCAAATAAAGCATTTCTCAATAATTTATGGGAAGAGAATCAACTGAAGAATAAACATCTTTAGTAAATCTTTTGCTCATGTGCATTAACCAATACTCTTGAAAACCAGGATTAATTTACTGTACCTTCTTAATATTCCTTTGAAATTCCTTATGGCGCACAGGTAGTGTGGAAAATAACTGCTGCACGCTGACTGTGGTCCCTCTGGGGCGGGGGTAGGGGGTTTTCTGGATAATTTTCCCATTGTGATCAAACATCAGTCGAGTTCCAACCTTCGCCGATGCGTGGCAGGTAGAAATGGTGACATCGCTGTGAGAGAATACCAGGCATGGTGTGTTCAGTGAGAGACCCATGATGTTGGGCACTGACTACTCTTTTCTTCACTTGCTTTTCTCTCAAAATTTTCTTAAAAAGCTGACGATCCCTCTGAGATAATCAAGATCTAAATGGTTGAGGAGTCATCATAAAATCTAAGGTTTGGCATCTAAAAGACAGTGAGACAGAGAGCACTAAACATGCTTTGCTTTGATAAAAGCTTTGATTTCGTTTTTCAGGTTGAACTGCAAAACCATAAATGATCTTAAGATTTATTTATTCACAAACACAGATTTGTTTTGTTATTACTCTTCGAACAAATTTTTTTTAAAGAATCTAACAAATATTATAATTAAAATGTATATGTAGGGCAGAGCGTGGTGGCTCATGCCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTATAGTACCAGCTCCTCAGGAGGCTCAGGCACGAGAATCACTTGAACCTGGAAGGCAGAGATTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAAAGAGAGACTCTGTCTAAAAAAAAAAAAAGATATATATATATATATATAATTATTTATAAAAATTTCATATCTGTGCTATAATTAAATAGTGCTTTGGTGAAATGTTTCCCTAAAAATTGATAATGAAAACCAATGGTAACTATCATTTATTATCTACATGTTAGGTTAAAATTGAGAATTACTGTTTTAATAAGGGTAACCATCTTTTTAACAATACTATTTGCTTCATTTCATTCATTTATTGCTCACATTTCAGAAGTACTATGACTTAGATTGGCAGCGAGACAAAACAGAATTCAGAAGCTAGAAGTTGAGATGTTGAGATAGAAAACTGAAAATAATAATGATTCCAATTAATTTTCAGAGAGGTTTCTCTAAGGGGTCAAGTGAGTGGATAAAAATATTGTATCACCTCAGTGCACAAAGTGAGCTCAGAGCTTCCCCCCGAAAGCCAAAAGTTTCAACCTGAGTTAGGTCGGCAAACTCTTGAATCTTAGATGTGTGATGTTTCAGAGCTGAAAGAGAGTGTAAAGTAAGGACTAAGATATCTCAAGTGCTATAACAACAAAATATACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTTTTTTTTTCCCTAGGCTAGTGAAGTGAAGCAGTTGGAGTGGAGAAGGAACAAAAAAAATCTGTAACTGGTGGTGATCAATTAGCTGTAAACCGCGTTGCACTTTGACCATCCTTTTCTTTTGAAAGAAATAATTTTAACATACCCAATAAAGAGAACGGGGACCGGGTGCAGTGGTTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCTTGGTGGCGCATGCCTGTCATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTATAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAAAAGAGAATGGGTTCTGGAATCAGACTTCCTGGATCCTATTTTATCAGCTTTATAATCTCAAAAAAAGGAAATTTCCTATCCCCTAATTTCCTCATTTGTAAAATAGAGAATAATAAGTTCTATCTCATAAAGTTATTCTGCAGATTAATAATTCTTTGGTTTTTTTTATTTTATTATTCTTTTCTTTTCTTTTGAGATGGAGTTTTGCTCGTCACCCAGGCTGGAGTGCAGTGGTACGATCTTGGCTCACTGCAGCCTCCACCTCCCAGGTTCAAGCAATTCTCCTCCTTCAGCGTCCTGAGGAGCTGAGATTACAGCCATGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTTAGGCTGGTCTAGAACTCCTGACCTCAAATGATCAGCCCCCCTCAGCCTCCCAAAGTGCTGGTATTACAGATGTGAGCCACTACTCCAGCCCTATTTTGTTTTATGTTTTTGAGATGGAATCTTGCTCTGTCCCCAGGCTGGCATGCAGTGGCACGATCTCGGCTTACTGCAACCTCCGTCTCTCGGCTTCAAGCAATTCTCGTGCCTCAGTGTCCCAAGTAGCTGGGATTACAGGCTTCTGCCACCAGGTCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCACTTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGGTATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTACTTTATTTTTCAATAGAGACAAGGTCTCACCATGTTGGCCAGGTTGGTCTTGAACTCTTGGCCTCAAGCAATTCCCCCACCTCGGCCTCTCAAAGGGCTAGGATTATAGGCGTGAGACACCACGCCCAGCTGTTCTGCAAATTAAATATTTCTGTGCAATTCTTAGCATAACACCTGCCTGGCACACCGTAAGAACACAATAAAAGCTGTTATTATTATTACTACCTAGCTAAGTACTAGGCACATAATAGGTGCTAACTTCAACTTAAAAATAATAATTTATTACTACATCAACACTTGATAGTCTTATTTCAATAACAAATGTTTCTTAACTA
AGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAGCCTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGCTGTGGTGGTACACGCCTGTAATTGCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATCTTTAATGAGAAATGCAAATAAAGCATTTCTCAATAATTTATGGGAAGAGAATCAACTGAAGAATAAACATCTTTAGTAAATCTTTTGCTCATGTGCATTAACCAATACTCTTGAAAACCAGGATTAATTTACTGTACCTTCTTAATATTCCTTTGAAATTCCTTATGGCGCACAGGTAGTGTGGAAAATAACTGCTGCACGCTGACTGTGGTCCCTCTGGGGCGGGGGTAGGGGGTTTTCTGGATAATTTTCCCATTGTGATCAAACATCAGTCGAGTTCCAACCTTCGCCGATGCGTGGCAGGTAGAAATGGTGACATCGCTGTGAGAGAATACCAGGCATGGTGTGTTCAGTGAGAGACCCATGATGTTGGGCACTGACTACTCTTTTCTTCACTTGCTTTTCTCTCAAAATTTTCTTAAAAAGCTGACGATCCCTCTGAGATAATCAAGATCTAAATGGTTGAGGAGTCATCATAAAATCTAAGGTTTGGCATCTAAAAGACAGTGAGACAGAGAGCACTAAACATGCTTTGCTTTGATAAAAGCTTTGATTTCGTTTTTCAGGTTGAACTGCAAAACCATAAATGATCTTAAGATTTATTTATTCACAAACACAGATTTGTTTTGTTATTACTCTTCGAACAAATTTTTTTTAAAGAATCTAACAAATATTATAATTAAAATGTATATGTAGGGCAGAGCGTGGTGGCTCATGCCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTATAGTACCAGCTCCTCAGGAGGCTCAGGCACGAGAATCACTTGAACCTGGAAGGCAGAGATTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAAAGAGAGACTCTGTCTAAAAAAAAAAAAAGATATATATATATATATATAATTATTTATAAAAATTTCATATCTGTGCTATAATTAAATAGTGCTTTGGTGAAATGTTTCCCTAAAAATTGATAATGAAAACCAATGGTAACTATCATTTATTATCTACATGTTAGGTTAAAATTGAGAATTACTGTTTTAATAAGGGTAACCATCTTTTTAACAATACTATTTGCTTCATTTCATTCATTTATTGCTCACATTTCAGAAGTACTATGACTTAGATTGGCAGCGAGACAAAACAGAATTCAGAAGCTAGAAGTTGAGATGTTGAGATAGAAAACTGAAAATAATAATGATTCCAATTAATTTTCAGAGAGGTTTCTCTAAGGGGTCAAGTGAGTGGATAAAAATATTGTATCACCTCAGTGCACAAAGTGAGCTCAGAGCTTCCCCCCGAAAGCCAAAAGTTTCAACCTGAGTTAGGTCGGCAAACTCTTGAATCTTAGATGTGTGATGTTTCAGAGTTGAAAGAGAGTGTAAAGTAAGGACTAAGATATCTCAAGTGCTATAACAACAAAATATACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTTTTTTTTTCCCTAGGCTAGTGAAGTGAAGCAGTTGGAGTGGAGAAGGAACAAAAAAAATCTGTAACTGGTGGTGATCAATTAGCTGTAAACCGCGTTGCACTTTGACCATCCTTTTCTTTTGAAAGAAATAATTTTAACATACCCAATAAAGAGAACGGGGACCGGGTGCAGTGGTTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCTTGGTGGCGCATGCCTGTCATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTATAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAAAAGAGAATGGGTTCTGGAATCAGACTTCCTGGATCCTATTTTATCAGCTTTATAATCTCAAAAAAAGGAAATTTCCTATCCCCTAATTTCCTCATTTGTAAAATAGAGAATAATAAGTTCTATCTCATAAAGTTATTCTGCAGATTAATAATTCTTTGGTTTTTTTTATTTTATTATTCTTTTCTTTTCTTTTGAGATGGAGTTTTGCTCGTCACCCAGGCTGGAGTGCAGTGGTACGATCTTGGCTCACTGCAGCCTCCACCTCCCAGGTTCAAGCAATTCTCCTCCTTCAGCGTCCTGAGGAGCTGAGATTACAGCCATGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTTAGGCTGGTCTAGAACTCCTGACCTCAAATGATCAGCCCCCCTCAGCCTCCCAAAGTGCTGGTATTACAGATGTGAGCCACTACTCCAGCCCTATTTTGTTTTATGTTTTTGAGATGGAATCTTGCTCTGTCCCCAGGCTGGCATGCAGTGGCACGATCTCGGCTTACTGCAACCTCCGTCTCTCGGCTTCAAGCAATTCTCGTGCCTCAGTGTCCCAAGTAGCTGGGATTACAGGCTTCTGCCACCAGGTCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCACTTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGGTATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTACTTTATTTTTCAATAGAGACAAGGTCTCACCATGTTGGCCAGGTTGGTCTTGAACTCTTGGCCTCAAGCAATTCCCCCACCTCGGCCTCTCAAAGGGCTAGGATTATAGGCGTGAGACACCACGCCCAGCTGTTCTGCAAATTAAATATTTCTGTGCAATTCTTAGCATAACACCTGCCTGGCACACCGTAAGAACACAATAAAAGCTGTTATTATTATTACTACCTAGCTAAGTACTAGGCACATAATAGGTGCTAACTTCAACTTAAAAATAATAATTTATTACTACATCAACACTTGATAGTCTTATTTCAATAACAAATGTTTCTTAACTA
Task1_train_10966
Mutation context: Chromosome 7, Gene PMS2 (PMS1 homolog 2, mismatch repair system component). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Hereditary cancer-predisposing syndrome
AAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATCTTTAATGAGAAATGCAAATAAAGCATTTCTCAATAATTTATGGGAAGAGAATCAACTGAAGAATAAACATCTTTAGTAAATCTTTTGCTCATGTGCATTAACCAATACTCTTGAAAACCAGGATTAATTTACTGTACCTTCTTAATATTCCTTTGAAATTCCTTATGGCGCACAGGTAGTGTGGAAAATAACTGCTGCACGCTGACTGTGGTCCCTCTGGGGCGGGGGTAGGGGGTTTTCTGGATAATTTTCCCATTGTGATCAAACATCAGTCGAGTTCCAACCTTCGCCGATGCGTGGCAGGTAGAAATGGTGACATCGCTGTGAGAGAATACCAGGCATGGTGTGTTCAGTGAGAGACCCATGATGTTGGGCACTGACTACTCTTTTCTTCACTTGCTTTTCTCTCAAAATTTTCTTAAAAAGCTGACGATCCCTCTGAGATAATCAAGATCTAAATGGTTGAGGAGTCATCATAAAATCTAAGGTTTGGCATCTAAAAGACAGTGAGACAGAGAGCACTAAACATGCTTTGCTTTGATAAAAGCTTTGATTTCGTTTTTCAGGTTGAACTGCAAAACCATAAATGATCTTAAGATTTATTTATTCACAAACACAGATTTGTTTTGTTATTACTCTTCGAACAAATTTTTTTTAAAGAATCTAACAAATATTATAATTAAAATGTATATGTAGGGCAGAGCGTGGTGGCTCATGCCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTATAGTACCAGCTCCTCAGGAGGCTCAGGCACGAGAATCACTTGAACCTGGAAGGCAGAGATTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAAAGAGAGACTCTGTCTAAAAAAAAAAAAAGATATATATATATATATATAATTATTTATAAAAATTTCATATCTGTGCTATAATTAAATAGTGCTTTGGTGAAATGTTTCCCTAAAAATTGATAATGAAAACCAATGGTAACTATCATTTATTATCTACATGTTAGGTTAAAATTGAGAATTACTGTTTTAATAAGGGTAACCATCTTTTTAACAATACTATTTGCTTCATTTCATTCATTTATTGCTCACATTTCAGAAGTACTATGACTTAGATTGGCAGCGAGACAAAACAGAATTCAGAAGCTAGAAGTTGAGATGTTGAGATAGAAAACTGAAAATAATAATGATTCCAATTAATTTTCAGAGAGGTTTCTCTAAGGGGTCAAGTGAGTGGATAAAAATATTGTATCACCTCAGTGCACAAAGTGAGCTCAGAGCTTCCCCCCGAAAGCCAAAAGTTTCAACCTGAGTTAGGTCGGCAAACTCTTGAATCTTAGATGTGTGATGTTTCAGAGCTGAAAGAGAGTGTAAAGTAAGGACTAAGATATCTCAAGTGCTATAACAACAAAATATACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTTTTTTTTTCCCTAGGCTAGTGAAGTGAAGCAGTTGGAGTGGAGAAGGAACAAAAAAAATCTGTAACTGGTGGTGATCAATTAGCTGTAAACCGCGTTGCACTTTGACCATCCTTTTCTTTTGAAAGAAATAATTTTAACATACCCAATAAAGAGAACGGGGACCGGGTGCAGTGGTTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCTTGGTGGCGCATGCCTGTCATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTATAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAAAAGAGAATGGGTTCTGGAATCAGACTTCCTGGATCCTATTTTATCAGCTTTATAATCTCAAAAAAAGGAAATTTCCTATCCCCTAATTTCCTCATTTGTAAAATAGAGAATAATAAGTTCTATCTCATAAAGTTATTCTGCAGATTAATAATTCTTTGGTTTTTTTTATTTTATTATTCTTTTCTTTTCTTTTGAGATGGAGTTTTGCTCGTCACCCAGGCTGGAGTGCAGTGGTACGATCTTGGCTCACTGCAGCCTCCACCTCCCAGGTTCAAGCAATTCTCCTCCTTCAGCGTCCTGAGGAGCTGAGATTACAGCCATGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTTAGGCTGGTCTAGAACTCCTGACCTCAAATGATCAGCCCCCCTCAGCCTCCCAAAGTGCTGGTATTACAGATGTGAGCCACTACTCCAGCCCTATTTTGTTTTATGTTTTTGAGATGGAATCTTGCTCTGTCCCCAGGCTGGCATGCAGTGGCACGATCTCGGCTTACTGCAACCTCCGTCTCTCGGCTTCAAGCAATTCTCGTGCCTCAGTGTCCCAAGTAGCTGGGATTACAGGCTTCTGCCACCAGGTCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCACTTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGGTATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTACTTTATTTTTCAATAGAGACAAGGTCTCACCATGTTGGCCAGGTTGGTCTTGAACTCTTGGCCTCAAGCAATTCCCCCACCTCGGCCTCTCAAAGGGCTAGGATTATAGGCGTGAGACACCACGCCCAGCTGTTCTGCAAATTAAATATTTCTGTGCAATTCTTAGCATAACACCTGCCTGGCACACCGTAAGAACACAATAAAAGCTGTTATTATTATTACTACCTAGCTAAGTACTAGGCACATAATAGGTGCTAACTTCAACTTAAAAATAATAATTTATTACTACATCAACACTTGATAGTCTTATTTCAATAACAAATGTTTCTTAACTACAACAACATTCACAGATCATTTCTTGTGGCTTAAAACTCTCCCAAACTTACCAATATTAGTGGCACCAGCATCCAGACTGTTTTCTACTAACTCCTTTACCGCAGTGCTTAGACTCAGTACCACCTGCCCAGAGCAAATCTGATGGACTGACTTCCGATCAATAGGTTTGATGGCCTTAGCAGGTTCTGTACTAGAG
AAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATCTTTAATGAGAAATGCAAATAAAGCATTTCTCAATAATTTATGGGAAGAGAATCAACTGAAGAATAAACATCTTTAGTAAATCTTTTGCTCATGTGCATTAACCAATACTCTTGAAAACCAGGATTAATTTACTGTACCTTCTTAATATTCCTTTGAAATTCCTTATGGCGCACAGGTAGTGTGGAAAATAACTGCTGCACGCTGACTGTGGTCCCTCTGGGGCGGGGGTAGGGGGTTTTCTGGATAATTTTCCCATTGTGATCAAACATCAGTCGAGTTCCAACCTTCGCCGATGCGTGGCAGGTAGAAATGGTGACATCGCTGTGAGAGAATACCAGGCATGGTGTGTTCAGTGAGAGACCCATGATGTTGGGCACTGACTACTCTTTTCTTCACTTGCTTTTCTCTCAAAATTTTCTTAAAAAGCTGACGATCCCTCTGAGATAATCAAGATCTAAATGGTTGAGGAGTCATCATAAAATCTAAGGTTTGGCATCTAAAAGACAGTGAGACAGAGAGCACTAAACATGCTTTGCTTTGATAAAAGCTTTGATTTCGTTTTTCAGGTTGAACTGCAAAACCATAAATGATCTTAAGATTTATTTATTCACAAACACAGATTTGTTTTGTTATTACTCTTCGAACAAATTTTTTTTAAAGAATCTAACAAATATTATAATTAAAATGTATATGTAGGGCAGAGCGTGGTGGCTCATGCCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTATAGTACCAGCTCCTCAGGAGGCTCAGGCACGAGAATCACTTGAACCTGGAAGGCAGAGATTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAAAGAGAGACTCTGTCTAAAAAAAAAAAAAGATATATATATATATATATAATTATTTATAAAAATTTCATATCTGTGCTATAATTAAATAGTGCTTTGGTGAAATGTTTCCCTAAAAATTGATAATGAAAACCAATGGTAACTATCATTTATTATCTACATGTTAGGTTAAAATTGAGAATTACTGTTTTAATAAGGGTAACCATCTTTTTAACAATACTATTTGCTTCATTTCATTCATTTATTGCTCACATTTCAGAAGTACTATGACTTAGATTGGCAGCGAGACAAAACAGAATTCAGAAGCTAGAAGTTGAGATGTTGAGATAGAAAACTGAAAATAATAATGATTCCAATTAATTTTCAGAGAGGTTTCTCTAAGGGGTCAAGTGAGTGGATAAAAATATTGTATCACCTCAGTGCACAAAGTGAGCTCAGAGCTTCCCCCCGAAAGCCAAAAGTTTCAACCTGAGTTAGGTCGGCAAACTCTTGAATCTTAGATGTGTGATGTTTCAGAGCTGAAAGAGAGTGTAAAGTAAGGACTAAGATATCTCAAGTGCTATAACAACAAAATATACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTATTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTTTTTTTTTCCCTAGGCTAGTGAAGTGAAGCAGTTGGAGTGGAGAAGGAACAAAAAAAATCTGTAACTGGTGGTGATCAATTAGCTGTAAACCGCGTTGCACTTTGACCATCCTTTTCTTTTGAAAGAAATAATTTTAACATACCCAATAAAGAGAACGGGGACCGGGTGCAGTGGTTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCTTGGTGGCGCATGCCTGTCATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTATAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAAAAGAGAATGGGTTCTGGAATCAGACTTCCTGGATCCTATTTTATCAGCTTTATAATCTCAAAAAAAGGAAATTTCCTATCCCCTAATTTCCTCATTTGTAAAATAGAGAATAATAAGTTCTATCTCATAAAGTTATTCTGCAGATTAATAATTCTTTGGTTTTTTTTATTTTATTATTCTTTTCTTTTCTTTTGAGATGGAGTTTTGCTCGTCACCCAGGCTGGAGTGCAGTGGTACGATCTTGGCTCACTGCAGCCTCCACCTCCCAGGTTCAAGCAATTCTCCTCCTTCAGCGTCCTGAGGAGCTGAGATTACAGCCATGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTTAGGCTGGTCTAGAACTCCTGACCTCAAATGATCAGCCCCCCTCAGCCTCCCAAAGTGCTGGTATTACAGATGTGAGCCACTACTCCAGCCCTATTTTGTTTTATGTTTTTGAGATGGAATCTTGCTCTGTCCCCAGGCTGGCATGCAGTGGCACGATCTCGGCTTACTGCAACCTCCGTCTCTCGGCTTCAAGCAATTCTCGTGCCTCAGTGTCCCAAGTAGCTGGGATTACAGGCTTCTGCCACCAGGTCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCACTTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGGTATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTACTTTATTTTTCAATAGAGACAAGGTCTCACCATGTTGGCCAGGTTGGTCTTGAACTCTTGGCCTCAAGCAATTCCCCCACCTCGGCCTCTCAAAGGGCTAGGATTATAGGCGTGAGACACCACGCCCAGCTGTTCTGCAAATTAAATATTTCTGTGCAATTCTTAGCATAACACCTGCCTGGCACACCGTAAGAACACAATAAAAGCTGTTATTATTATTACTACCTAGCTAAGTACTAGGCACATAATAGGTGCTAACTTCAACTTAAAAATAATAATTTATTACTACATCAACACTTGATAGTCTTATTTCAATAACAAATGTTTCTTAACTACAACAACATTCACAGATCATTTCTTGTGGCTTAAAACTCTCCCAAACTTACCAATATTAGTGGCACCAGCATCCAGACTGTTTTCTACTAACTCCTTTACCGCAGTGCTTAGACTCAGTACCACCTGCCCAGAGCAAATCTGATGGACTGACTTCCGATCAATAGGTTTGATGGCCTTAGCAGGTTCTGTACTAGAG
Task1_train_10967
Gene PMS2 (PMS1 homolog 2, mismatch repair system component) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Lynch syndrome 4
AAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATCTTTAATGAGAAATGCAAATAAAGCATTTCTCAATAATTTATGGGAAGAGAATCAACTGAAGAATAAACATCTTTAGTAAATCTTTTGCTCATGTGCATTAACCAATACTCTTGAAAACCAGGATTAATTTACTGTACCTTCTTAATATTCCTTTGAAATTCCTTATGGCGCACAGGTAGTGTGGAAAATAACTGCTGCACGCTGACTGTGGTCCCTCTGGGGCGGGGGTAGGGGGTTTTCTGGATAATTTTCCCATTGTGATCAAACATCAGTCGAGTTCCAACCTTCGCCGATGCGTGGCAGGTAGAAATGGTGACATCGCTGTGAGAGAATACCAGGCATGGTGTGTTCAGTGAGAGACCCATGATGTTGGGCACTGACTACTCTTTTCTTCACTTGCTTTTCTCTCAAAATTTTCTTAAAAAGCTGACGATCCCTCTGAGATAATCAAGATCTAAATGGTTGAGGAGTCATCATAAAATCTAAGGTTTGGCATCTAAAAGACAGTGAGACAGAGAGCACTAAACATGCTTTGCTTTGATAAAAGCTTTGATTTCGTTTTTCAGGTTGAACTGCAAAACCATAAATGATCTTAAGATTTATTTATTCACAAACACAGATTTGTTTTGTTATTACTCTTCGAACAAATTTTTTTTAAAGAATCTAACAAATATTATAATTAAAATGTATATGTAGGGCAGAGCGTGGTGGCTCATGCCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTATAGTACCAGCTCCTCAGGAGGCTCAGGCACGAGAATCACTTGAACCTGGAAGGCAGAGATTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAAAGAGAGACTCTGTCTAAAAAAAAAAAAAGATATATATATATATATATAATTATTTATAAAAATTTCATATCTGTGCTATAATTAAATAGTGCTTTGGTGAAATGTTTCCCTAAAAATTGATAATGAAAACCAATGGTAACTATCATTTATTATCTACATGTTAGGTTAAAATTGAGAATTACTGTTTTAATAAGGGTAACCATCTTTTTAACAATACTATTTGCTTCATTTCATTCATTTATTGCTCACATTTCAGAAGTACTATGACTTAGATTGGCAGCGAGACAAAACAGAATTCAGAAGCTAGAAGTTGAGATGTTGAGATAGAAAACTGAAAATAATAATGATTCCAATTAATTTTCAGAGAGGTTTCTCTAAGGGGTCAAGTGAGTGGATAAAAATATTGTATCACCTCAGTGCACAAAGTGAGCTCAGAGCTTCCCCCCGAAAGCCAAAAGTTTCAACCTGAGTTAGGTCGGCAAACTCTTGAATCTTAGATGTGTGATGTTTCAGAGCTGAAAGAGAGTGTAAAGTAAGGACTAAGATATCTCAAGTGCTATAACAACAAAATATACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTTTTTTTTTCCCTAGGCTAGTGAAGTGAAGCAGTTGGAGTGGAGAAGGAACAAAAAAAATCTGTAACTGGTGGTGATCAATTAGCTGTAAACCGCGTTGCACTTTGACCATCCTTTTCTTTTGAAAGAAATAATTTTAACATACCCAATAAAGAGAACGGGGACCGGGTGCAGTGGTTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCTTGGTGGCGCATGCCTGTCATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTATAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAAAAGAGAATGGGTTCTGGAATCAGACTTCCTGGATCCTATTTTATCAGCTTTATAATCTCAAAAAAAGGAAATTTCCTATCCCCTAATTTCCTCATTTGTAAAATAGAGAATAATAAGTTCTATCTCATAAAGTTATTCTGCAGATTAATAATTCTTTGGTTTTTTTTATTTTATTATTCTTTTCTTTTCTTTTGAGATGGAGTTTTGCTCGTCACCCAGGCTGGAGTGCAGTGGTACGATCTTGGCTCACTGCAGCCTCCACCTCCCAGGTTCAAGCAATTCTCCTCCTTCAGCGTCCTGAGGAGCTGAGATTACAGCCATGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTTAGGCTGGTCTAGAACTCCTGACCTCAAATGATCAGCCCCCCTCAGCCTCCCAAAGTGCTGGTATTACAGATGTGAGCCACTACTCCAGCCCTATTTTGTTTTATGTTTTTGAGATGGAATCTTGCTCTGTCCCCAGGCTGGCATGCAGTGGCACGATCTCGGCTTACTGCAACCTCCGTCTCTCGGCTTCAAGCAATTCTCGTGCCTCAGTGTCCCAAGTAGCTGGGATTACAGGCTTCTGCCACCAGGTCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCACTTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGGTATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTACTTTATTTTTCAATAGAGACAAGGTCTCACCATGTTGGCCAGGTTGGTCTTGAACTCTTGGCCTCAAGCAATTCCCCCACCTCGGCCTCTCAAAGGGCTAGGATTATAGGCGTGAGACACCACGCCCAGCTGTTCTGCAAATTAAATATTTCTGTGCAATTCTTAGCATAACACCTGCCTGGCACACCGTAAGAACACAATAAAAGCTGTTATTATTATTACTACCTAGCTAAGTACTAGGCACATAATAGGTGCTAACTTCAACTTAAAAATAATAATTTATTACTACATCAACACTTGATAGTCTTATTTCAATAACAAATGTTTCTTAACTACAACAACATTCACAGATCATTTCTTGTGGCTTAAAACTCTCCCAAACTTACCAATATTAGTGGCACCAGCATCCAGACTGTTTTCTACTAACTCCTTTACCGCAGTGCTTAGACTCAGTACCACCTGCCCAGAGCAAATCTGATGGACTGACTTCCGATCAATAGGTTTGATGGCCTTAGCAGGTTCTGTACTAGAG
AAGATCGCGCCACCGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATCTTTAATGAGAAATGCAAATAAAGCATTTCTCAATAATTTATGGGAAGAGAATCAACTGAAGAATAAACATCTTTAGTAAATCTTTTGCTCATGTGCATTAACCAATACTCTTGAAAACCAGGATTAATTTACTGTACCTTCTTAATATTCCTTTGAAATTCCTTATGGCGCACAGGTAGTGTGGAAAATAACTGCTGCACGCTGACTGTGGTCCCTCTGGGGCGGGGGTAGGGGGTTTTCTGGATAATTTTCCCATTGTGATCAAACATCAGTCGAGTTCCAACCTTCGCCGATGCGTGGCAGGTAGAAATGGTGACATCGCTGTGAGAGAATACCAGGCATGGTGTGTTCAGTGAGAGACCCATGATGTTGGGCACTGACTACTCTTTTCTTCACTTGCTTTTCTCTCAAAATTTTCTTAAAAAGCTGACGATCCCTCTGAGATAATCAAGATCTAAATGGTTGAGGAGTCATCATAAAATCTAAGGTTTGGCATCTAAAAGACAGTGAGACAGAGAGCACTAAACATGCTTTGCTTTGATAAAAGCTTTGATTTCGTTTTTCAGGTTGAACTGCAAAACCATAAATGATCTTAAGATTTATTTATTCACAAACACAGATTTGTTTTGTTATTACTCTTCGAACAAATTTTTTTTAAAGAATCTAACAAATATTATAATTAAAATGTATATGTAGGGCAGAGCGTGGTGGCTCATGCCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTATAGTACCAGCTCCTCAGGAGGCTCAGGCACGAGAATCACTTGAACCTGGAAGGCAGAGATTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAAAGAGAGACTCTGTCTAAAAAAAAAAAAAGATATATATATATATATATAATTATTTATAAAAATTTCATATCTGTGCTATAATTAAATAGTGCTTTGGTGAAATGTTTCCCTAAAAATTGATAATGAAAACCAATGGTAACTATCATTTATTATCTACATGTTAGGTTAAAATTGAGAATTACTGTTTTAATAAGGGTAACCATCTTTTTAACAATACTATTTGCTTCATTTCATTCATTTATTGCTCACATTTCAGAAGTACTATGACTTAGATTGGCAGCGAGACAAAACAGAATTCAGAAGCTAGAAGTTGAGATGTTGAGATAGAAAACTGAAAATAATAATGATTCCAATTAATTTTCAGAGAGGTTTCTCTAAGGGGTCAAGTGAGTGGATAAAAATATTGTATCACCTCAGTGCACAAAGTGAGCTCAGAGCTTCCCCCCGAAAGCCAAAAGTTTCAACCTGAGTTAGGTCGGCAAACTCTTGAATCTTAGATGTGTGATGTTTCAGAGCTGAAAGAGAGTGTAAAGTAAGGACTAAGATATCTCAAGTGCTATAACAACAAAATATACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTATTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTTTTTTTTTCCCTAGGCTAGTGAAGTGAAGCAGTTGGAGTGGAGAAGGAACAAAAAAAATCTGTAACTGGTGGTGATCAATTAGCTGTAAACCGCGTTGCACTTTGACCATCCTTTTCTTTTGAAAGAAATAATTTTAACATACCCAATAAAGAGAACGGGGACCGGGTGCAGTGGTTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCTTGGTGGCGCATGCCTGTCATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTATAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAAAAGAGAATGGGTTCTGGAATCAGACTTCCTGGATCCTATTTTATCAGCTTTATAATCTCAAAAAAAGGAAATTTCCTATCCCCTAATTTCCTCATTTGTAAAATAGAGAATAATAAGTTCTATCTCATAAAGTTATTCTGCAGATTAATAATTCTTTGGTTTTTTTTATTTTATTATTCTTTTCTTTTCTTTTGAGATGGAGTTTTGCTCGTCACCCAGGCTGGAGTGCAGTGGTACGATCTTGGCTCACTGCAGCCTCCACCTCCCAGGTTCAAGCAATTCTCCTCCTTCAGCGTCCTGAGGAGCTGAGATTACAGCCATGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTTAGGCTGGTCTAGAACTCCTGACCTCAAATGATCAGCCCCCCTCAGCCTCCCAAAGTGCTGGTATTACAGATGTGAGCCACTACTCCAGCCCTATTTTGTTTTATGTTTTTGAGATGGAATCTTGCTCTGTCCCCAGGCTGGCATGCAGTGGCACGATCTCGGCTTACTGCAACCTCCGTCTCTCGGCTTCAAGCAATTCTCGTGCCTCAGTGTCCCAAGTAGCTGGGATTACAGGCTTCTGCCACCAGGTCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCACTTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGGTATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTACTTTATTTTTCAATAGAGACAAGGTCTCACCATGTTGGCCAGGTTGGTCTTGAACTCTTGGCCTCAAGCAATTCCCCCACCTCGGCCTCTCAAAGGGCTAGGATTATAGGCGTGAGACACCACGCCCAGCTGTTCTGCAAATTAAATATTTCTGTGCAATTCTTAGCATAACACCTGCCTGGCACACCGTAAGAACACAATAAAAGCTGTTATTATTATTACTACCTAGCTAAGTACTAGGCACATAATAGGTGCTAACTTCAACTTAAAAATAATAATTTATTACTACATCAACACTTGATAGTCTTATTTCAATAACAAATGTTTCTTAACTACAACAACATTCACAGATCATTTCTTGTGGCTTAAAACTCTCCCAAACTTACCAATATTAGTGGCACCAGCATCCAGACTGTTTTCTACTAACTCCTTTACCGCAGTGCTTAGACTCAGTACCACCTGCCCAGAGCAAATCTGATGGACTGACTTCCGATCAATAGGTTTGATGGCCTTAGCAGGTTCTGTACTAGAG
Task1_train_10968
The gene PMS2 (PMS1 homolog 2, mismatch repair system component) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Mismatch repair cancer syndrome 4
CGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATCTTTAATGAGAAATGCAAATAAAGCATTTCTCAATAATTTATGGGAAGAGAATCAACTGAAGAATAAACATCTTTAGTAAATCTTTTGCTCATGTGCATTAACCAATACTCTTGAAAACCAGGATTAATTTACTGTACCTTCTTAATATTCCTTTGAAATTCCTTATGGCGCACAGGTAGTGTGGAAAATAACTGCTGCACGCTGACTGTGGTCCCTCTGGGGCGGGGGTAGGGGGTTTTCTGGATAATTTTCCCATTGTGATCAAACATCAGTCGAGTTCCAACCTTCGCCGATGCGTGGCAGGTAGAAATGGTGACATCGCTGTGAGAGAATACCAGGCATGGTGTGTTCAGTGAGAGACCCATGATGTTGGGCACTGACTACTCTTTTCTTCACTTGCTTTTCTCTCAAAATTTTCTTAAAAAGCTGACGATCCCTCTGAGATAATCAAGATCTAAATGGTTGAGGAGTCATCATAAAATCTAAGGTTTGGCATCTAAAAGACAGTGAGACAGAGAGCACTAAACATGCTTTGCTTTGATAAAAGCTTTGATTTCGTTTTTCAGGTTGAACTGCAAAACCATAAATGATCTTAAGATTTATTTATTCACAAACACAGATTTGTTTTGTTATTACTCTTCGAACAAATTTTTTTTAAAGAATCTAACAAATATTATAATTAAAATGTATATGTAGGGCAGAGCGTGGTGGCTCATGCCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTATAGTACCAGCTCCTCAGGAGGCTCAGGCACGAGAATCACTTGAACCTGGAAGGCAGAGATTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAAAGAGAGACTCTGTCTAAAAAAAAAAAAAGATATATATATATATATATAATTATTTATAAAAATTTCATATCTGTGCTATAATTAAATAGTGCTTTGGTGAAATGTTTCCCTAAAAATTGATAATGAAAACCAATGGTAACTATCATTTATTATCTACATGTTAGGTTAAAATTGAGAATTACTGTTTTAATAAGGGTAACCATCTTTTTAACAATACTATTTGCTTCATTTCATTCATTTATTGCTCACATTTCAGAAGTACTATGACTTAGATTGGCAGCGAGACAAAACAGAATTCAGAAGCTAGAAGTTGAGATGTTGAGATAGAAAACTGAAAATAATAATGATTCCAATTAATTTTCAGAGAGGTTTCTCTAAGGGGTCAAGTGAGTGGATAAAAATATTGTATCACCTCAGTGCACAAAGTGAGCTCAGAGCTTCCCCCCGAAAGCCAAAAGTTTCAACCTGAGTTAGGTCGGCAAACTCTTGAATCTTAGATGTGTGATGTTTCAGAGCTGAAAGAGAGTGTAAAGTAAGGACTAAGATATCTCAAGTGCTATAACAACAAAATATACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTTTTTTTTTCCCTAGGCTAGTGAAGTGAAGCAGTTGGAGTGGAGAAGGAACAAAAAAAATCTGTAACTGGTGGTGATCAATTAGCTGTAAACCGCGTTGCACTTTGACCATCCTTTTCTTTTGAAAGAAATAATTTTAACATACCCAATAAAGAGAACGGGGACCGGGTGCAGTGGTTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCTTGGTGGCGCATGCCTGTCATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTATAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAAAAGAGAATGGGTTCTGGAATCAGACTTCCTGGATCCTATTTTATCAGCTTTATAATCTCAAAAAAAGGAAATTTCCTATCCCCTAATTTCCTCATTTGTAAAATAGAGAATAATAAGTTCTATCTCATAAAGTTATTCTGCAGATTAATAATTCTTTGGTTTTTTTTATTTTATTATTCTTTTCTTTTCTTTTGAGATGGAGTTTTGCTCGTCACCCAGGCTGGAGTGCAGTGGTACGATCTTGGCTCACTGCAGCCTCCACCTCCCAGGTTCAAGCAATTCTCCTCCTTCAGCGTCCTGAGGAGCTGAGATTACAGCCATGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTTAGGCTGGTCTAGAACTCCTGACCTCAAATGATCAGCCCCCCTCAGCCTCCCAAAGTGCTGGTATTACAGATGTGAGCCACTACTCCAGCCCTATTTTGTTTTATGTTTTTGAGATGGAATCTTGCTCTGTCCCCAGGCTGGCATGCAGTGGCACGATCTCGGCTTACTGCAACCTCCGTCTCTCGGCTTCAAGCAATTCTCGTGCCTCAGTGTCCCAAGTAGCTGGGATTACAGGCTTCTGCCACCAGGTCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCACTTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGGTATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTACTTTATTTTTCAATAGAGACAAGGTCTCACCATGTTGGCCAGGTTGGTCTTGAACTCTTGGCCTCAAGCAATTCCCCCACCTCGGCCTCTCAAAGGGCTAGGATTATAGGCGTGAGACACCACGCCCAGCTGTTCTGCAAATTAAATATTTCTGTGCAATTCTTAGCATAACACCTGCCTGGCACACCGTAAGAACACAATAAAAGCTGTTATTATTATTACTACCTAGCTAAGTACTAGGCACATAATAGGTGCTAACTTCAACTTAAAAATAATAATTTATTACTACATCAACACTTGATAGTCTTATTTCAATAACAAATGTTTCTTAACTACAACAACATTCACAGATCATTTCTTGTGGCTTAAAACTCTCCCAAACTTACCAATATTAGTGGCACCAGCATCCAGACTGTTTTCTACTAACTCCTTTACCGCAGTGCTTAGACTCAGTACCACCTGCCCAGAGCAAATCTGATGGACTGACTTCCGATCAATAGGTTTGATGGCCTTAGCAGGTTCTGTACTAGAGAAATCAGTTACAA
CGCACTCCAGCCAGGGCGCCAAAGAGAAACTCCATCTCAAAAAAAGATAAAAATAAAAAATAAAAAATATATATATATGTATATATATTTTTCCAGACAGGATCTTATTCTGTCTCCCAGTCTTAAGTGCAGTGGCGCAATCATAGCTCACTGCAGCCTCAAGTTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCAAGTAGCTGGAACTACAGGTACATGTCACCATGCCCAGTAAATTTTTTTTTAAAATTTTTCATAGAGACAGGGTCTCACTGTGTTGCCCAGTCCTAATAAACACTATGTGATGAAAAGAAAAAAGTAAATCATCCTAAAGTTAAGTCTTTAATGTTAAATCTTTAATGAGAAATGCAAATAAAGCATTTCTCAATAATTTATGGGAAGAGAATCAACTGAAGAATAAACATCTTTAGTAAATCTTTTGCTCATGTGCATTAACCAATACTCTTGAAAACCAGGATTAATTTACTGTACCTTCTTAATATTCCTTTGAAATTCCTTATGGCGCACAGGTAGTGTGGAAAATAACTGCTGCACGCTGACTGTGGTCCCTCTGGGGCGGGGGTAGGGGGTTTTCTGGATAATTTTCCCATTGTGATCAAACATCAGTCGAGTTCCAACCTTCGCCGATGCGTGGCAGGTAGAAATGGTGACATCGCTGTGAGAGAATACCAGGCATGGTGTGTTCAGTGAGAGACCCATGATGTTGGGCACTGACTACTCTTTTCTTCACTTGCTTTTCTCTCAAAATTTTCTTAAAAAGCTGACGATCCCTCTGAGATAATCAAGATCTAAATGGTTGAGGAGTCATCATAAAATCTAAGGTTTGGCATCTAAAAGACAGTGAGACAGAGAGCACTAAACATGCTTTGCTTTGATAAAAGCTTTGATTTCGTTTTTCAGGTTGAACTGCAAAACCATAAATGATCTTAAGATTTATTTATTCACAAACACAGATTTGTTTTGTTATTACTCTTCGAACAAATTTTTTTTAAAGAATCTAACAAATATTATAATTAAAATGTATATGTAGGGCAGAGCGTGGTGGCTCATGCCTGTTATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGTGCATGCCTATAGTACCAGCTCCTCAGGAGGCTCAGGCACGAGAATCACTTGAACCTGGAAGGCAGAGATTGCAGTGAGCCGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAAAGAGAGACTCTGTCTAAAAAAAAAAAAAGATATATATATATATATATAATTATTTATAAAAATTTCATATCTGTGCTATAATTAAATAGTGCTTTGGTGAAATGTTTCCCTAAAAATTGATAATGAAAACCAATGGTAACTATCATTTATTATCTACATGTTAGGTTAAAATTGAGAATTACTGTTTTAATAAGGGTAACCATCTTTTTAACAATACTATTTGCTTCATTTCATTCATTTATTGCTCACATTTCAGAAGTACTATGACTTAGATTGGCAGCGAGACAAAACAGAATTCAGAAGCTAGAAGTTGAGATGTTGAGATAGAAAACTGAAAATAATAATGATTCCAATTAATTTTCAGAGAGGTTTCTCTAAGGGGTCAAGTGAGTGGATAAAAATATTGTATCACCTCAGTGCACAAAGTGAGCTCAGAGCTTCCCCCCGAAAGCCAAAAGTTTCAACCTGAGTTAGGTCGGCAAACTCTTGAATCTTAGATGTGTGATGTTTCAGAGCTGAAAGAGAGTGTAAAGTAAGGACTAAGATATCTCAAGTGCTATAACAACAAAATATACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCCAAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTTTTCTTCTTCTACCCCTCATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTAGATCTAGAAAGTTTAAAATATTTACATATTTATTAAAAACGGACCCATGCTATCAGTTTTTATATTGACATTATTTATAACATATGCAAATTTAAGAGTCATAACTATACCTTTAGTTAAACATACTAGTGTCATTTTGTATATTTCATTGTTATAAAGTCCTTTCTGGCTATTTACTAGCCCAGACTAAATAGTTTAGCTTTTTCTTTCTTTCCTCTTTTTTTTTCCCTAGGCTAGTGAAGTGAAGCAGTTGGAGTGGAGAAGGAACAAAAAAAATCTGTAACTGGTGGTGATCAATTAGCTGTAAACCGCGTTGCACTTTGACCATCCTTTTCTTTTGAAAGAAATAATTTTAACATACCCAATAAAGAGAACGGGGACCGGGTGCAGTGGTTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCTTGGTGGCGCATGCCTGTCATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTATAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAAAAAAAAAAAGAGAATGGGTTCTGGAATCAGACTTCCTGGATCCTATTTTATCAGCTTTATAATCTCAAAAAAAGGAAATTTCCTATCCCCTAATTTCCTCATTTGTAAAATAGAGAATAATAAGTTCTATCTCATAAAGTTATTCTGCAGATTAATAATTCTTTGGTTTTTTTTATTTTATTATTCTTTTCTTTTCTTTTGAGATGGAGTTTTGCTCGTCACCCAGGCTGGAGTGCAGTGGTACGATCTTGGCTCACTGCAGCCTCCACCTCCCAGGTTCAAGCAATTCTCCTCCTTCAGCGTCCTGAGGAGCTGAGATTACAGCCATGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTTAGGCTGGTCTAGAACTCCTGACCTCAAATGATCAGCCCCCCTCAGCCTCCCAAAGTGCTGGTATTACAGATGTGAGCCACTACTCCAGCCCTATTTTGTTTTATGTTTTTGAGATGGAATCTTGCTCTGTCCCCAGGCTGGCATGCAGTGGCACGATCTCGGCTTACTGCAACCTCCGTCTCTCGGCTTCAAGCAATTCTCGTGCCTCAGTGTCCCAAGTAGCTGGGATTACAGGCTTCTGCCACCAGGTCCAGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCACTTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGGTATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTACTTTATTTTTCAATAGAGACAAGGTCTCACCATGTTGGCCAGGTTGGTCTTGAACTCTTGGCCTCAAGCAATTCCCCCACCTCGGCCTCTCAAAGGGCTAGGATTATAGGCGTGAGACACCACGCCCAGCTGTTCTGCAAATTAAATATTTCTGTGCAATTCTTAGCATAACACCTGCCTGGCACACCGTAAGAACACAATAAAAGCTGTTATTATTATTACTACCTAGCTAAGTACTAGGCACATAATAGGTGCTAACTTCAACTTAAAAATAATAATTTATTACTACATCAACACTTGATAGTCTTATTTCAATAACAAATGTTTCTTAACTACAACAACATTCACAGATCATTTCTTGTGGCTTAAAACTCTCCCAAACTTACCAATATTAGTGGCACCAGCATCCAGACTGTTTTCTACTAACTCCTTTACCGCAGTGCTTAGACTCAGTACCACCTGCCCAGAGCAAATCTGATGGACTGACTTCCGATCAATAGGTTTGATGGCCTTAGCAGGTTCTGTACTAGAGAAATCAGTTACAA
Task1_train_10969
A variant found in Chromosome 7 affects PMS2 (PMS1 homolog 2, mismatch repair system component). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Hereditary nonpolyposis colorectal neoplasms
AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCCATGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTC
AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCAATGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTC
Task1_train_10970
This genomic variant is located on Chromosome 7, within the PMS2 (PMS1 homolog 2, mismatch repair system component) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Lynch syndrome 4
AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCCATGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTC
AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCAATGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTC
Task1_train_10971
Consider a variant on Chromosome 7 in gene PMS2 (PMS1 homolog 2, mismatch repair system component). Determine its clinical classification and disease relevance.
Pathogenic; Hereditary nonpolyposis colorectal neoplasms
AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCCATGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTC
AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCGATGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTC
Task1_train_10972
The following genetic variant occurs in PMS2 (PMS1 homolog 2, mismatch repair system component) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Hereditary nonpolyposis colorectal neoplasms
AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCCATGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTC
AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCTATGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTC
Task1_train_10973
Assess the clinical impact of this variant on gene PMS2 (PMS1 homolog 2, mismatch repair system component), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Hereditary cancer-predisposing syndrome
AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCCATGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTC
AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCTATGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTC
Task1_train_10974
Here is a genetic alteration in PMS2 (PMS1 homolog 2, mismatch repair system component) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Lynch syndrome 4
AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCCATGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTC
AAAAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCTATGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTC
Task1_train_10975
This alteration occurs within gene PMS2 (PMS1 homolog 2, mismatch repair system component) located on Chromosome 7. Is it associated with a disease or is it a benign variant?
Pathogenic; Hereditary cancer-predisposing syndrome
AAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCCATGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTCTC
AAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCCAGGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTCTC
Task1_train_10976
Here is a variant affecting PMS2 (PMS1 homolog 2, mismatch repair system component) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Lynch syndrome 4
AAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCCATGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTCTC
AAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCCAGGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTCTC
Task1_train_10977
A variant on Chromosome 7 in gene PMS2 (PMS1 homolog 2, mismatch repair system component) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Hereditary nonpolyposis colorectal neoplasms
AAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCCATGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTCTC
AAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCCAGGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTCTC
Task1_train_10978
An alteration has been detected in PMS2 (PMS1 homolog 2, mismatch repair system component) on Chromosome 7. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Hereditary nonpolyposis colon cancer
AAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCCATGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTCTC
AAATTTACTAGTGCCCCACTTCCTACTATATGAAAGTTAAAATTTAGTCATCATTGGGGCCAAAACTACCTTCTTTTCAGAATCTCTCTAATCCTTTCCCTTCATCAAGTCCCCTACATTATTATTATTATTATTATTATTATTGTTATTATTGTTATTATTTGAGACAGAGTCTCACCCCGTTGCCTATGCTAGAGGGCAATGGCATGAGCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTATCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACACCCAGCTAATTTTTGTGTTTTTAGAAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGGGACCGCAACCAGCCATCCCCTATATTGTAGCACAGTGAACAACTGTCCTGAACATCACAAGCTCTTTGAGACACTACAGTGTATAAGCAGGTCTCTGTCTAAACCGCTCTCCTCTTCCTCCTCTGCCCAAACAATGTCTGCTCAAAGAATGTATCCCGTGTGTTCATTAACTTAGCAATTTCCAGCAAACAGTTTAATTGATAACTTGTTAAGAGAAGGCAGGAAACCTCCATGAAAGAGAAATCACTGGGTATTTCCTACAGCATTTAACACATCGTAGGCCTTTAATAAACCCTTCTGAAATAAACAAACCTCTTTACTCTTCATTCCACCTTGCTAAGAATCTCACCTAAGTCTGTCTACCATGTGAAACTGCAGATGACCTCACAGAAAATGGAAAGAAGTATCTCTAAAAATAAGTTTATTTGGCAGCACACTATAGGCTACAGGTCCACTTCTGATTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTGCTGCGTTGCCCAGGCCGGACTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTAGGATTACAGGCTCCCGCCATCATGCCCAGTTAATTTTTGTATTTTTAGTAGAAACGGATTTCACCATGTTGGCCAGGCTGGTCATGAACTCCTGACTTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCTCTCGGCCCACTTCAGATATTTATTTTGAGGAGGGAGCGCATTTAGACACAGACCCCAAATTTATTTAAATGTCTCAATACATTTAAATGTAGTTACCTAAATATATCTAATATATTTAAATGCAGAGAGCAAATTTGCGTTTACAAATCTGACATGGAATGCAAATGTGCTAGCCAAGATTCGGTGTAGCTTACCAGCCAGAAATCACACATCCTAACAGGTAGAAACGTATTGCATTTTTAAAAACTGCGCAGCTATGCAAATAAGGATGTGTCTGGACGCTCTACCGTCCCCAAAATAACCTTAATTTTTTAAAAAGGCCAGGCACGGTGCATCATGCCTTTAATTCCAGCACTTTGAGGGGCCAAGGCGGGCGGATTGCTTGAGCTCAGGCGTTCGAGACCAGCCTGGGCAACGCAGCGAAATCCCCGTCTCTACAAAAAAAAATTAAAAATAAAATACTATAAAAATAAAAATAAAAGGGGAGAGAGAACAGGTAGAAAGGAAATGCATTCAGTCTATGGGGATTTCACGCTCCCGCTTCAAGTCCACGGCCCTGTGATGGGATGTGGGCAAGGCCTGTCTGGGACAGGCCGAACCCAACTCCTCACAGGGCCGAATCCTTTGCCCGCAGCCCAGGACCCCGAAGGAGCTTGCCTCGGCCTCAAGGCGCACCCAAGGGGCACGAGATCGCTGCAACACTGAGGTCGCCACTCCGGGGCCTCCAGGGGGCTGCCTCGCCACGCGCCTCGGCCATGTTCCCCCCATTTCCAGGGAGGTTGGAATGCCGTGGGTCTCAAAGAGGGCGCGCGAGAGGGGACACCGGAAGACTGCGAGCCCCGCTCACCTCGAGCTCTCAGCTCGCTCCAGGGATGCAACACCCGATCCGCCTCGGGGACTGGGAAAGTTCCCTCCAGGGCTCCCACAGGCGCTCCGCCTCCTGAACTCCCATTGGCTGCTTTCGACGTTGTGCTCCACCCTTTCCGGGCGGGGCGGCAAAAATACTTCCCGTCTCTCCTTTTCGCCTATTGGCTCTGTCAAAGGTCGACTTCGTGACGTCAAAGAGCCTGGGCCAATCAGAGCACACCGGACTGCGTTTTCCCGAACGCCCGCAGCAGGGTCAGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTTCTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCAACGTGCACGGCAGGAGCTACGGCCCAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCGCGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCGGCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAGGCCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAGAAATTGGCCGGGTGTGGTGAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCTGGAGGCGGAGTTTGCAGTGAGCTGAGATCGAGCCATTGCACTCGAGCCTGGGCAACAAGAGCTAAACTCTATCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATGTATGTATCTTTCCAGGTCGGGCGCGGTGGTTCACGCCTGGAGTCTCAGCGCTTTGGGAGACTGAGGCGGGAGGATCAATTGAATCCCAAGAGTTTGAGACCACTCTCAGCAACATAGCGAGACCCTTGTCTCTATTTTTTAAATGTTTTAATTAAAATACAAATCTGTCCATATTTTTTCTTTTTTTAATATATGGTTGCTTAAACATTTTGGTTCAGAGATTCTACCCTCTGAAAAGTGAATAGCACATAAATGCTCATTTTGAGGAATTACAAAGCGAACCCCAGGGTCACCATGGCCCAGGTTGACACACATTGTCACCACTCCATTCTTTCCACTTAAACCTTCCCTCTCCACCCCCAACCCCAGGTCCTGATTTTTATGGTAATTATGTCTTGCTTGTCTCTATTATTTTGTCAACTATTTATCCCTAAACAATATAGTCTGGTTTTTTGTTTTTTTTTTTGTTTTTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGTGTGATTTTAGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGCTGTCCACTGGACCCGGCTAATTTTTCTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGAGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAAACAATAGTCTTCATATAGGTAAGCATACAGCGTATAGTCTGATGTGTCTGGGTGTTTTTTTTTTTTTAATGTAGAGATGAGGTCTTACCACATCTCTACATAAAAGGTGGTTATGGAGACCCAAGGTGGTCTCAATCTCCTGGCCACAGGCGATCCTCTAACCCCAGCCTCCCAAAGTGCTGGGATTACAAACATGAGCCACTGGGTCCCAGCCCTGGCTTCTTTTTCGTAGATATTATTTTAGGAGTCATTTTATTGTAATATCAGAAGTATTCATCATCTCTGTACTATACCGTTCTATTGCATGACTCTC
Task1_train_10979
Here’s a variant in RAC1 (Rac family small GTPase 1) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; not provided
TTATCACACGCATAATTTCATGTGATGATTGCATTCTTAATTTTTAAATTTAACAACTGCACTTACTTCATGAGGTCTTGTTCATTGATACATCTTTAGCACCTAGTGTGCTTCTGGTGTAGCACACGGTTGATATAAATTGAAATTGAATTAATGCTCACAGTAGTTTGGGGATGGAGCTGGTAGTTCTGCATTAATTTTGCAGGTGAAAAAAAAAGGCATGAGGAAGTTGAAACTTGCCAAAAAATACAGCCAGTACGTGCTAGAATTGGCCCTGGGTCTCAAATCTGGGCTTCTGACTCCAAAGCTTAGGCTCCTGCTCATACAGGTTTATTTTCACATTCTAAGCTTTTAACGAAATGTATGTCCAATGAGTCATTTCTGTTTAGAAAGCCTTTAGGAGTTGGAAGCTACTTCCTGGTGATGTAATGTTTGACTCTCTAAAGTCTTTGGAATGGGGAGTTCCAACTTTTGTTAAGCCCTCAATAATGTCATGAGTGAATGAATATTGGCAAGACTGGCTGGGCCTGTAATCTGCCTTGAGTGTGAGGGAAAATGGAAAAGCGCTTAACTTTATGGTGAATTCTAATTTATAGTAGTTGAGATTGAACGACAAAAATCTTAAAATTATGATGCTGATGTGTCATTGTGACCTTGGTAAACTGACAGCACAGCAGAGAGAAGGGCTCATTAAGGAGAGCACTTGGCTAACTGAACCCTCAGGATGCCAGAGACTTGAATTCTCATGTAAGCCCTTAAGCTTGCCTTGTCAATGCTGTAAAAATTGGAGACCTTTATGTTTTGCTAATGATGTGGTGACCTTAGTTATTAGGTGATAGCCTCTTGAAAAACATTCCAGGTGGTTGGGAGACTTTCAGCCACCACTCTTCTGCCTGGCGGCACACTGGTAATATTAGGATTAGTCTCTACCCATTGCCAGTTGTGCAGGTGGTGCTCCTTTCTCTGAAGTATTTCTACACACTTCTCTGTTTGGCAAGTTTAACTCCCATCGTCTCTGAGCTGTTAATTAAATGTCTGGGATGTATTGTGATAGTCCCTGCTTATAGACTTATGGTGCTGTGTGAGGATTGGGGCTGGGGGAGGTGGCATTTAAATACAGCTGAATCAATGTGATGGCAGTTACGTGTGGTAGTTTATTGACTAAGCACTTTCTCTCAAGAGAACAGTCATTGCTGATTGCCATAGGGGAGGCTGTAGGGATGTGGTGGGATTTTGAGCTGTCCCACTTAAGGCAGCAGAATAAGTTACTTAAAGAGGAAGGCTGTGTTTGTATATTAGTGTTAATTAAAATACCTTTAGGCTGGGTGTGGTGGCTCCAGCCTGTAATCCCAGCACTTTGGGAGGTCCAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAAACCCATCTCTACTAAAAATACAAAAAAATTATCCAGGCGTGGTGGTGGACAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGTGCCTCTGCACTGCACTCCAGCTGGGGCGACAGCACGAGACTCGGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAGAAAAAAAGAAAATATCTTCAGGATCAAACTTAAGATTCTTGATGAGAGGCTCTACAGATGTTCACAGAAGAGACGTGAAGTTTTAAAATCTTGTTTCTCTTGAGTCTTGTAGCTAGGTGACAACTGTTTCTTGACTATTAATGCTAACACCGGGTACCTAAACAGAATGTGATGGCTCCTGACTCTATCTTTCTGAGAAATTCTAGTTTGTTTACTTTAAATTTCAGGGTACCAATGTGTATGTGGTGATAAAGGGTTATAGAAAACATTTTCTTTAATGCTAAGTATGTGATGTATATGCCTTGATTTTTTTTCTCTAGAAATTATTTTAACTTAATAGTGAAAGCTAAGATTACATTCATGTTGACTAAGCAACCTTTTTTCTCTTTCTCTTTAGAGCTGTAGGTAAAACTTGCCTACTGATCAGTTACACAACCAATGCATTTCCTGGAGAATATATCCCTACTGTGTAAGTATCTTAAATTGGGAATTAACCTGTTTGTGTTACGGGTTTCACATTTCTTTGACCATTTGTTTTGCTGTAAAGCCATCTTTAATCCTCATATGAACAGATACTAATTTTTTCTTAAACATTCACTGAAACCTAATTATAAGGTATATTAGGCTTTTAAAAAATAGGGCTGGGGGTGGTGATCTCAGCACTTTGGGAGACTGAGGCGGGTGGATCAACTGAGGGTCAGGAGTTCGAGACCAGCATGGTCAACGTGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAATCCCACATACTTGGGAGGCTGAGGCAGGAGAATCACTCGAACCGTGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAATGAGAGCGAAACTCCATCTCAAAAGAAAAAAAAAAAAGAAACTTAGGGTAATATAAACTTTTCACAACTTTGCTAGTTGATTTTTAGACATCCAGAAAGCAAACTTTAACTGTCTGTGAGGTACAGAGACTGGATGATGTTAAAGAAAACCATAGTTGGACACAAGAACTCTGACCAAAAGTCTGATCAGAAACAGTCCTTGTCAGTGCACGAGTTTCAGATACACTGGCTTTCTGGGAACTGGAAAGGGAAAGATTCCATTACGTTTTAATTGGCCTTTTCTGATAAGTCATCAGTTGGTTACATGTCCGCATTGAGGTGTAGGGCTTTGGAATTGAAACTTGGGTGTGTGTGTTGAAGGGGGAATGGGAGGGTGGAATTGGCTATTGAATTGCTTACTCCCTATAGGCAGCAGAATTGGGTGGAGACAGGAAAGTGCTGCTCTGGTGATGGGTTACCCGGGAGCGCACGTAGCTGAGCCTCATAATGCACCATCCTGCAGCTGCTGTGAGTCCTCCCTGTGCAGGCTGGGGAGGTGTCGCCTCCTCCCCACCTGTGTTCACCTCCTCAGGCACAACACACACCCAGGTGCTCTCTGAAGTGTCGTACCCATGTTTTTGTTGTTGTTGTTGTTGTTTTCCTTTTTTTTTTTTTTTTTTGGAGTTAGTCTCTCTCTCTTGCCCAGGATGGAGTGCTGTGATGCGATCTCAGCTCACTGCAGCGTCTGCCTCCTGGGTTCAAGTGATTCTCTGCCTCAGCCTCCCAGGTAGCTGTGATTACAGGCATACACCACCACACCTGGCTAATTTTTGTTTCTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACGGCACCCATTTTTTACTGTAAGTGGAATCATGCTGTCCCTGTTGTCCTAAATTTATGGGGGAGATTTTCCTTATCTACATATGTAGATAAAGGTTTAATCATTAATGATTAATGATTTTGAAGTACTATAACTGATTTAACCCACTGGTCACTTGGACTCTTGGTGTTAACAAACATTGCTGGGTTCAGTGTTGTCCCTTATGTCTTTGTGTACACTTGATAGATTATTAGAAGCAAAATCGTGCCAAATCAAAAGACAATGGATGTTTTAAATTTTGGTAGATACAGCTGGGCGTGATTGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGAAGGATCACTTGAGGTCAGGAGTTCGAGACCAACCTGGCCAACATGTTAAAACCCCCACCTCTGCTAAAAATACAGTAGTTAGCCGGGTGTGGTGGTGCACTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCATGAGAATTGCTTGAACCCGGGAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTTCAGCCTGGGTAACAGAGTGAGACTCTGTCTCCCAAAAAAAAAAAAAAATTAAAAAATTATTTTTTGGTAGATAACTACCAAATTGCTGTCTATAAAGCTGTCACTT
TTATCACACGCATAATTTCATGTGATGATTGCATTCTTAATTTTTAAATTTAACAACTGCACTTACTTCATGAGGTCTTGTTCATTGATACATCTTTAGCACCTAGTGTGCTTCTGGTGTAGCACACGGTTGATATAAATTGAAATTGAATTAATGCTCACAGTAGTTTGGGGATGGAGCTGGTAGTTCTGCATTAATTTTGCAGGTGAAAAAAAAAGGCATGAGGAAGTTGAAACTTGCCAAAAAATACAGCCAGTACGTGCTAGAATTGGCCCTGGGTCTCAAATCTGGGCTTCTGACTCCAAAGCTTAGGCTCCTGCTCATACAGGTTTATTTTCACATTCTAAGCTTTTAACGAAATGTATGTCCAATGAGTCATTTCTGTTTAGAAAGCCTTTAGGAGTTGGAAGCTACTTCCTGGTGATGTAATGTTTGACTCTCTAAAGTCTTTGGAATGGGGAGTTCCAACTTTTGTTAAGCCCTCAATAATGTCATGAGTGAATGAATATTGGCAAGACTGGCTGGGCCTGTAATCTGCCTTGAGTGTGAGGGAAAATGGAAAAGCGCTTAACTTTATGGTGAATTCTAATTTATAGTAGTTGAGATTGAACGACAAAAATCTTAAAATTATGATGCTGATGTGTCATTGTGACCTTGGTAAACTGACAGCACAGCAGAGAGAAGGGCTCATTAAGGAGAGCACTTGGCTAACTGAACCCTCAGGATGCCAGAGACTTGAATTCTCATGTAAGCCCTTAAGCTTGCCTTGTCAATGCTGTAAAAATTGGAGACCTTTATGTTTTGCTAATGATGTGGTGACCTTAGTTATTAGGTGATAGCCTCTTGAAAAACATTCCAGGTGGTTGGGAGACTTTCAGCCACCACTCTTCTGCCTGGCGGCACACTGGTAATATTAGGATTAGTCTCTACCCATTGCCAGTTGTGCAGGTGGTGCTCCTTTCTCTGAAGTATTTCTACACACTTCTCTGTTTGGCAAGTTTAACTCCCATCGTCTCTGAGCTGTTAATTAAATGTCTGGGATGTATTGTGATAGTCCCTGCTTATAGACTTATGGTGCTGTGTGAGGATTGGGGCTGGGGGAGGTGGCATTTAAATACAGCTGAATCAATGTGATGGCAGTTACGTGTGGTAGTTTATTGACTAAGCACTTTCTCTCAAGAGAACAGTCATTGCTGATTGCCATAGGGGAGGCTGTAGGGATGTGGTGGGATTTTGAGCTGTCCCACTTAAGGCAGCAGAATAAGTTACTTAAAGAGGAAGGCTGTGTTTGTATATTAGTGTTAATTAAAATACCTTTAGGCTGGGTGTGGTGGCTCCAGCCTGTAATCCCAGCACTTTGGGAGGTCCAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAAACCCATCTCTACTAAAAATACAAAAAAATTATCCAGGCGTGGTGGTGGACAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGTGCCTCTGCACTGCACTCCAGCTGGGGCGACAGCACGAGACTCGGTCTCAAAAAAAAAAAAAAAAGAAAAAAAAGAAAAAAAGAAAATATCTTCAGGATCAAACTTAAGATTCTTGATGAGAGGCTCTACAGATGTTCACAGAAGAGACGTGAAGTTTTAAAATCTTGTTTCTCTTGAGTCTTGTAGCTAGGTGACAACTGTTTCTTGACTATTAATGCTAACACCGGGTACCTAAACAGAATGTGATGGCTCCTGACTCTATCTTTCTGAGAAATTCTAGTTTGTTTACTTTAAATTTCAGGGTACCAATGTGTATGTGGTGATAAAGGGTTATAGAAAACATTTTCTTTAATGCTAAGTATGTGATGTATATGCCTTGATTTTTTTTCTCTAGAAATTATTTTAACTTAATAGTGAAAGCTAAGATTACATTCATGTTGACTAAGCAACCTTTTTTCTCTTTCTCTTTAGAGCTGTAGGTAAAACTTACCTACTGATCAGTTACACAACCAATGCATTTCCTGGAGAATATATCCCTACTGTGTAAGTATCTTAAATTGGGAATTAACCTGTTTGTGTTACGGGTTTCACATTTCTTTGACCATTTGTTTTGCTGTAAAGCCATCTTTAATCCTCATATGAACAGATACTAATTTTTTCTTAAACATTCACTGAAACCTAATTATAAGGTATATTAGGCTTTTAAAAAATAGGGCTGGGGGTGGTGATCTCAGCACTTTGGGAGACTGAGGCGGGTGGATCAACTGAGGGTCAGGAGTTCGAGACCAGCATGGTCAACGTGATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAATCCCACATACTTGGGAGGCTGAGGCAGGAGAATCACTCGAACCGTGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAATGAGAGCGAAACTCCATCTCAAAAGAAAAAAAAAAAAGAAACTTAGGGTAATATAAACTTTTCACAACTTTGCTAGTTGATTTTTAGACATCCAGAAAGCAAACTTTAACTGTCTGTGAGGTACAGAGACTGGATGATGTTAAAGAAAACCATAGTTGGACACAAGAACTCTGACCAAAAGTCTGATCAGAAACAGTCCTTGTCAGTGCACGAGTTTCAGATACACTGGCTTTCTGGGAACTGGAAAGGGAAAGATTCCATTACGTTTTAATTGGCCTTTTCTGATAAGTCATCAGTTGGTTACATGTCCGCATTGAGGTGTAGGGCTTTGGAATTGAAACTTGGGTGTGTGTGTTGAAGGGGGAATGGGAGGGTGGAATTGGCTATTGAATTGCTTACTCCCTATAGGCAGCAGAATTGGGTGGAGACAGGAAAGTGCTGCTCTGGTGATGGGTTACCCGGGAGCGCACGTAGCTGAGCCTCATAATGCACCATCCTGCAGCTGCTGTGAGTCCTCCCTGTGCAGGCTGGGGAGGTGTCGCCTCCTCCCCACCTGTGTTCACCTCCTCAGGCACAACACACACCCAGGTGCTCTCTGAAGTGTCGTACCCATGTTTTTGTTGTTGTTGTTGTTGTTTTCCTTTTTTTTTTTTTTTTTTGGAGTTAGTCTCTCTCTCTTGCCCAGGATGGAGTGCTGTGATGCGATCTCAGCTCACTGCAGCGTCTGCCTCCTGGGTTCAAGTGATTCTCTGCCTCAGCCTCCCAGGTAGCTGTGATTACAGGCATACACCACCACACCTGGCTAATTTTTGTTTCTTTAGTAGAGACGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACGGCACCCATTTTTTACTGTAAGTGGAATCATGCTGTCCCTGTTGTCCTAAATTTATGGGGGAGATTTTCCTTATCTACATATGTAGATAAAGGTTTAATCATTAATGATTAATGATTTTGAAGTACTATAACTGATTTAACCCACTGGTCACTTGGACTCTTGGTGTTAACAAACATTGCTGGGTTCAGTGTTGTCCCTTATGTCTTTGTGTACACTTGATAGATTATTAGAAGCAAAATCGTGCCAAATCAAAAGACAATGGATGTTTTAAATTTTGGTAGATACAGCTGGGCGTGATTGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGAAGGATCACTTGAGGTCAGGAGTTCGAGACCAACCTGGCCAACATGTTAAAACCCCCACCTCTGCTAAAAATACAGTAGTTAGCCGGGTGTGGTGGTGCACTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCATGAGAATTGCTTGAACCCGGGAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTTCAGCCTGGGTAACAGAGTGAGACTCTGTCTCCCAAAAAAAAAAAAAAATTAAAAAATTATTTTTTGGTAGATAACTACCAAATTGCTGTCTATAAAGCTGTCACTT
Task1_train_10980
A sequence alteration has been identified in RAC1 (Rac family small GTPase 1) on Chromosome 7. Is it disease-inducing or harmless?
Pathogenic; not provided
ACATTTCCTTCCTTCCTTCCCTCCCTCCCTCTCTCCCTCCCTTCCTCCCTTCCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTGTCTTCTGCCATATAGAAATTTAGCATTTAATGTAAATAATACCACCTTACCCGGGCACGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAAGCTGAGGTGGGCGCATTATGAGGTCAGGAGATCAAGACCAGCCTGATCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACCGGGCATGGTGGCGTGCACCTGTAATCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGTGAGATTCTGTCTCAAAAAAAAAATAATAATAATAATGATAATACCACCTCTCCCTCAGAATTGTATGTTGTACTTAGAAAGGCCTTTCCTACTTAAATAATGCAAAAGTATGCTCTAGTATTTTTTTCTAGGATTTTTGTGGCTAAAATTTTTATCTTTAATTCATTTAGGACTTATTTTTGGTATAGAATGAGGCAAGGACCTGATTCTTTTTCCCTTATGGGGAAAAAAAGTCACAATACTATTTATCCAATAATTTTTTTCTTATGGAAATATAATTAACATGTCCATCACCATCACACCTTTTCTTTCTTCTTCTTCTTTTTTCTTGAGACCGAGTTTCGCACTTGTTGCCCAGGCCGGAGTGCAGTGGCGCAACTTGGCCCACTGCAACCTCTGCTTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCTGTCACCACGCCCTGGCTAATTTTTGCATTTTTAGTAGACACAAAGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTCTGCTTTTTATTATATTTTTCCTTTTTTTTTTTTTCTTTTTTGCCTTCCTGTGCAGAGGAAACACTATTTTCTTCTAAAGCTTGGTTTCTGCTGACCAGTAGCAATTTTTAACATCAGTCTGATTTCCCTCTGTCAGCCTATAGGCTTTGCTGGGTTATCTCTCCTGACTAATTTGTGTAGCAACTTCACATGAATTTAAACATTTGTATCATCAGTTAACACTCACTTTGAAAATGTTATTGGGAGGCTTGTTAAGTCAGGTGTATTTTGTGTGACTGCTCTACACTCAGGCCTTCTGGAAACCCTGCAGAGGGTAGCTCTAGTGGCCAGCTAGCTCTCTTGCTGAAAATGAGCAACATAAGTACATGAAAAACCCAACAAGTAGGATTTGAAAGCGGGGCTAATTGTACCCTTATTTCTTCTGGGGATAAAAGTCTTAAACTTTGTTTAAAGTAAAATGTTTTTATTTCTGACGGTGATTTGTTTCACTTAAATAGCTTGTTGTTTGTTTCTTTCATTTCTCTTAAGTTTTGGGTTGGGTTTGGTTTGTTTCCCGCAAGTTTTGCCCGTGCCGCCTTCCTCCTTGTGCCTGCAGGGACATTTGCTGGTGTGGCAGCCTCCAGGCCCGTCCCCAGCCTTTTTCTTGGCACACCTTCTCTAGGATGGCTGGGACAGTGACTTAGCTTCTACACCTGTGACTAACCATTTTCATTCCATTCTACAGCTTTGACAATTATTCTGCCAATGTTATGGTAGATGGAAAACCGGTGAATCTGGGCTTATGGGATACAGCTGGACAAGAAGATTATGACAGATTACGCCCCCTATCCTATCCGCAAACAGTAAGGATTGCAGCTGACTTTTAATGTGTCTTTTAGAGTATATAATTCTCGAGCGCTTAATTAGTGCATGTTACCTATGGACTTGCTTATATTGCCATCATTTGGGTATTGAGTAAATAGCAAACAGGGTGGGATTGGTTCCATGTAAACATCCCCCTAGATGCAAGCCCAGGGGTTTTGTGTTTTGAGCGTTACCAGCTGTTCCATTGTTGGGCATTTTACAGTCTTCCATTTAGCTTTAGAATAACCGTATGAAAGAGCTACTTTTTGTTTTTGCAAACCAGTTTTTAACACCAATTAGTTTGAAGGCAGGTTTGCTGTGTGACATTTTTGTACCACAGAATCAAATTAGGCAGTTAAGATTCAGGTTTCTTTAAACCAAGTTAGTAACTAATCTCACAGGTTTAATACATTTTTTCCCACAAAATACATAATTTGTATGGATTTTGTGAACCATACAATAGAACCTAAATTTATTCAATGTAGATTGAAGTTTTGGTTTTGTAAAATGTATCCACTGTGTCTAATCAGAAAAAAAAGTTTACTTTTGCTTCTGTATCAGACAACTAAGTGATTTATTTACCAAAGCTAATTAGAGCAGTAGCTGGTGAAAATGGGTACTTAGAAGACATTGTTGTCATTAAAAGTTACTTTTCTTTAAGCAGCGGTTTTACTTGTGTATCATTTGCTTATCTTGTTACATGTTTGTTCTTCATTTTTAAAAGTATCTTTGGAAGCAAAAGTTAAATATGCTTGAGATTCCTTGGGTTGATAACCTGTGTGCATGTCCTAGCTCTGTGACTTCAGGCAGGCTTCATCCTCTCTCCAGTCTTTGCCTGTTTCCTTGTAGGGTGAGATGAGTACGTGTCACGCACGCATAACAGTCCTGGGCACATAGCACACACTGTGGGGCCAGCCGCTGTCAGAATTCTCCTGTTCCTCAGTGTGCGGGTGGGTCGGCCTAAAGAGTGCTGCTTTCCACGTTGTGCCCAAATGAGTGGAAGTTGTGTGGTGCTCAGCACACCTGGGTTGGCCGGAGGGATTGGGGTTGGGGTTGGGTTGAGGTCAGGAAGACATCCTAGAGAAAGGCTGGCTTTGAGCCCTGATTGATGATGAGGCAGCCTGTGATTGATTCAACCAGTACTTCGTTGTAGGGGGTAATATGGGTGAAATAACTTAGTGGTTAAGTCTGCTGTATTAAAAATCAGTCTATAATCCCCAGACAATTCAAATTCTTCAGTATCTTAGGAAACTCTTCTATACCCAGTGGATGTTTAATAATTCAGATTGTAAATGGATTTAAAAACATACTGGCTGGTAGAGTAGGAGACTTCAGCCCACTGGACACATGTGGAAGGGTGTGGTGTCATTCTGAGAAACAAGAGCCACCCTGCTGTGACTCAGGGGGTACCGGGCAGGGTGAGGCCTCTCTAAGGAAGGCCTCACAGTAAGTCAAGGGTGACTTGGCAGGAGTCCCACTTTGTGTTCTGAGGAACACACAGATAAGGAAAGAGAACTCTCCTCAGCTTGAACAAAGCTGTAGAGTGTGACGCCTGGTATCAAAGTAGGTGTTGTCCTCATAGGGCTAGAACTTAAACTTCATGTTTCCTCTGTGTGAGACTGTGGACTGCTTTCCTATAAAATATTTGAGGAGCAAGGAGGGAGTGGGACATGGTTCTTGCCCTCAGGTAGTTCACAGAAAAGTCCCATAAACTGTGTAAGACACCCTGTGCTAGCAAGGGGGTGAGCCGGGCGCTTAAGGAGCAAGAGGGGCGAGCACCCACCCAGCAGTGGAAGCATTCCTGTCTGGACTCCTTCAGAGATAAGGAAATTATCTTGACAACTCAGGGGCAGGCCACAGATGCTCAGATACCAGTGTCTGGAAGGTCTCATCCCTTTGAGCCACACTGTCCTAAGAAGAACTGGATCTGGTAGTAACATGCTGGCACCTGGGTCTCTTGTTGATAAAGGGG
ACATTTCCTTCCTTCCTTCCCTCCCTCCCTCTCTCCCTCCCTTCCTCCCTTCCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTGTCTTCTGCCATATAGAAATTTAGCATTTAATGTAAATAATACCACCTTACCCGGGCACGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAAGCTGAGGTGGGCGCATTATGAGGTCAGGAGATCAAGACCAGCCTGATCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACCGGGCATGGTGGCGTGCACCTGTAATCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGTGAGATTCTGTCTCAAAAAAAAAATAATAATAATAATGATAATACCACCTCTCCCTCAGAATTGTATGTTGTACTTAGAAAGGCCTTTCCTACTTAAATAATGCAAAAGTATGCTCTAGTATTTTTTTCTAGGATTTTTGTGGCTAAAATTTTTATCTTTAATTCATTTAGGACTTATTTTTGGTATAGAATGAGGCAAGGACCTGATTCTTTTTCCCTTATGGGGAAAAAAAGTCACAATACTATTTATCCAATAATTTTTTTCTTATGGAAATATAATTAACATGTCCATCACCATCACACCTTTTCTTTCTTCTTCTTCTTTTTTCTTGAGACCGAGTTTCGCACTTGTTGCCCAGGCCGGAGTGCAGTGGCGCAACTTGGCCCACTGCAACCTCTGCTTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCTGTCACCACGCCCTGGCTAATTTTTGCATTTTTAGTAGACACAAAGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTCTGCTTTTTATTATATTTTTCCTTTTTTTTTTTTTCTTTTTTGCCTTCCTGTGCAGAGGAAACACTATTTTCTTCTAAAGCTTGGTTTCTGCTGACCAGTAGCAATTTTTAACATCAGTCTGATTTCCCTCTGTCAGCCTATAGGCTTTGCTGGGTTATCTCTCCTGACTAATTTGTGTAGCAACTTCACATGAATTTAAACATTTGTATCATCAGTTAACACTCACTTTGAAAATGTTATTGGGAGGCTTGTTAAGTCAGGTGTATTTTGTGTGACTGCTCTACACTCAGGCCTTCTGGAAACCCTGCAGAGGGTAGCTCTAGTGGCCAGCTAGCTCTCTTGCTGAAAATGAGCAACATAAGTACATGAAAAACCCAACAAGTAGGATTTGAAAGCGGGGCTAATTGTACCCTTATTTCTTCTGGGGATAAAAGTCTTAAACTTTGTTTAAAGTAAAATGTTTTTATTTCTGACGGTGATTTGTTTCACTTAAATAGCTTGTTGTTTGTTTCTTTCATTTCTCTTAAGTTTTGGGTTGGGTTTGGTTTGTTTCCCGCAAGTTTTGCCCGTGCCGCCTTCCTCCTTGTGCCTGCAGGGACATTTGCTGGTGTGGCAGCCTCCAGGCCCGTCCCCAGCCTTTTTCTTGGCACACCTTCTCTAGGATGGCTGGGACAGTGACTTAGCTTCTACACCTGTGACTAACCATTTTCATTCCATTCTACAGCTTTGACAATTATTCTGCCAATGTTATGGTAGATGGAAAACCGATGAATCTGGGCTTATGGGATACAGCTGGACAAGAAGATTATGACAGATTACGCCCCCTATCCTATCCGCAAACAGTAAGGATTGCAGCTGACTTTTAATGTGTCTTTTAGAGTATATAATTCTCGAGCGCTTAATTAGTGCATGTTACCTATGGACTTGCTTATATTGCCATCATTTGGGTATTGAGTAAATAGCAAACAGGGTGGGATTGGTTCCATGTAAACATCCCCCTAGATGCAAGCCCAGGGGTTTTGTGTTTTGAGCGTTACCAGCTGTTCCATTGTTGGGCATTTTACAGTCTTCCATTTAGCTTTAGAATAACCGTATGAAAGAGCTACTTTTTGTTTTTGCAAACCAGTTTTTAACACCAATTAGTTTGAAGGCAGGTTTGCTGTGTGACATTTTTGTACCACAGAATCAAATTAGGCAGTTAAGATTCAGGTTTCTTTAAACCAAGTTAGTAACTAATCTCACAGGTTTAATACATTTTTTCCCACAAAATACATAATTTGTATGGATTTTGTGAACCATACAATAGAACCTAAATTTATTCAATGTAGATTGAAGTTTTGGTTTTGTAAAATGTATCCACTGTGTCTAATCAGAAAAAAAAGTTTACTTTTGCTTCTGTATCAGACAACTAAGTGATTTATTTACCAAAGCTAATTAGAGCAGTAGCTGGTGAAAATGGGTACTTAGAAGACATTGTTGTCATTAAAAGTTACTTTTCTTTAAGCAGCGGTTTTACTTGTGTATCATTTGCTTATCTTGTTACATGTTTGTTCTTCATTTTTAAAAGTATCTTTGGAAGCAAAAGTTAAATATGCTTGAGATTCCTTGGGTTGATAACCTGTGTGCATGTCCTAGCTCTGTGACTTCAGGCAGGCTTCATCCTCTCTCCAGTCTTTGCCTGTTTCCTTGTAGGGTGAGATGAGTACGTGTCACGCACGCATAACAGTCCTGGGCACATAGCACACACTGTGGGGCCAGCCGCTGTCAGAATTCTCCTGTTCCTCAGTGTGCGGGTGGGTCGGCCTAAAGAGTGCTGCTTTCCACGTTGTGCCCAAATGAGTGGAAGTTGTGTGGTGCTCAGCACACCTGGGTTGGCCGGAGGGATTGGGGTTGGGGTTGGGTTGAGGTCAGGAAGACATCCTAGAGAAAGGCTGGCTTTGAGCCCTGATTGATGATGAGGCAGCCTGTGATTGATTCAACCAGTACTTCGTTGTAGGGGGTAATATGGGTGAAATAACTTAGTGGTTAAGTCTGCTGTATTAAAAATCAGTCTATAATCCCCAGACAATTCAAATTCTTCAGTATCTTAGGAAACTCTTCTATACCCAGTGGATGTTTAATAATTCAGATTGTAAATGGATTTAAAAACATACTGGCTGGTAGAGTAGGAGACTTCAGCCCACTGGACACATGTGGAAGGGTGTGGTGTCATTCTGAGAAACAAGAGCCACCCTGCTGTGACTCAGGGGGTACCGGGCAGGGTGAGGCCTCTCTAAGGAAGGCCTCACAGTAAGTCAAGGGTGACTTGGCAGGAGTCCCACTTTGTGTTCTGAGGAACACACAGATAAGGAAAGAGAACTCTCCTCAGCTTGAACAAAGCTGTAGAGTGTGACGCCTGGTATCAAAGTAGGTGTTGTCCTCATAGGGCTAGAACTTAAACTTCATGTTTCCTCTGTGTGAGACTGTGGACTGCTTTCCTATAAAATATTTGAGGAGCAAGGAGGGAGTGGGACATGGTTCTTGCCCTCAGGTAGTTCACAGAAAAGTCCCATAAACTGTGTAAGACACCCTGTGCTAGCAAGGGGGTGAGCCGGGCGCTTAAGGAGCAAGAGGGGCGAGCACCCACCCAGCAGTGGAAGCATTCCTGTCTGGACTCCTTCAGAGATAAGGAAATTATCTTGACAACTCAGGGGCAGGCCACAGATGCTCAGATACCAGTGTCTGGAAGGTCTCATCCCTTTGAGCCACACTGTCCTAAGAAGAACTGGATCTGGTAGTAACATGCTGGCACCTGGGTCTCTTGTTGATAAAGGGG
Task1_train_10981
Here is a variant affecting RAC1 (Rac family small GTPase 1) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; not provided
CTCTCCCTCCCTTCCTCCCTTCCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTGTCTTCTGCCATATAGAAATTTAGCATTTAATGTAAATAATACCACCTTACCCGGGCACGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAAGCTGAGGTGGGCGCATTATGAGGTCAGGAGATCAAGACCAGCCTGATCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACCGGGCATGGTGGCGTGCACCTGTAATCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGTGAGATTCTGTCTCAAAAAAAAAATAATAATAATAATGATAATACCACCTCTCCCTCAGAATTGTATGTTGTACTTAGAAAGGCCTTTCCTACTTAAATAATGCAAAAGTATGCTCTAGTATTTTTTTCTAGGATTTTTGTGGCTAAAATTTTTATCTTTAATTCATTTAGGACTTATTTTTGGTATAGAATGAGGCAAGGACCTGATTCTTTTTCCCTTATGGGGAAAAAAAGTCACAATACTATTTATCCAATAATTTTTTTCTTATGGAAATATAATTAACATGTCCATCACCATCACACCTTTTCTTTCTTCTTCTTCTTTTTTCTTGAGACCGAGTTTCGCACTTGTTGCCCAGGCCGGAGTGCAGTGGCGCAACTTGGCCCACTGCAACCTCTGCTTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCTGTCACCACGCCCTGGCTAATTTTTGCATTTTTAGTAGACACAAAGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTCTGCTTTTTATTATATTTTTCCTTTTTTTTTTTTTCTTTTTTGCCTTCCTGTGCAGAGGAAACACTATTTTCTTCTAAAGCTTGGTTTCTGCTGACCAGTAGCAATTTTTAACATCAGTCTGATTTCCCTCTGTCAGCCTATAGGCTTTGCTGGGTTATCTCTCCTGACTAATTTGTGTAGCAACTTCACATGAATTTAAACATTTGTATCATCAGTTAACACTCACTTTGAAAATGTTATTGGGAGGCTTGTTAAGTCAGGTGTATTTTGTGTGACTGCTCTACACTCAGGCCTTCTGGAAACCCTGCAGAGGGTAGCTCTAGTGGCCAGCTAGCTCTCTTGCTGAAAATGAGCAACATAAGTACATGAAAAACCCAACAAGTAGGATTTGAAAGCGGGGCTAATTGTACCCTTATTTCTTCTGGGGATAAAAGTCTTAAACTTTGTTTAAAGTAAAATGTTTTTATTTCTGACGGTGATTTGTTTCACTTAAATAGCTTGTTGTTTGTTTCTTTCATTTCTCTTAAGTTTTGGGTTGGGTTTGGTTTGTTTCCCGCAAGTTTTGCCCGTGCCGCCTTCCTCCTTGTGCCTGCAGGGACATTTGCTGGTGTGGCAGCCTCCAGGCCCGTCCCCAGCCTTTTTCTTGGCACACCTTCTCTAGGATGGCTGGGACAGTGACTTAGCTTCTACACCTGTGACTAACCATTTTCATTCCATTCTACAGCTTTGACAATTATTCTGCCAATGTTATGGTAGATGGAAAACCGGTGAATCTGGGCTTATGGGATACAGCTGGACAAGAAGATTATGACAGATTACGCCCCCTATCCTATCCGCAAACAGTAAGGATTGCAGCTGACTTTTAATGTGTCTTTTAGAGTATATAATTCTCGAGCGCTTAATTAGTGCATGTTACCTATGGACTTGCTTATATTGCCATCATTTGGGTATTGAGTAAATAGCAAACAGGGTGGGATTGGTTCCATGTAAACATCCCCCTAGATGCAAGCCCAGGGGTTTTGTGTTTTGAGCGTTACCAGCTGTTCCATTGTTGGGCATTTTACAGTCTTCCATTTAGCTTTAGAATAACCGTATGAAAGAGCTACTTTTTGTTTTTGCAAACCAGTTTTTAACACCAATTAGTTTGAAGGCAGGTTTGCTGTGTGACATTTTTGTACCACAGAATCAAATTAGGCAGTTAAGATTCAGGTTTCTTTAAACCAAGTTAGTAACTAATCTCACAGGTTTAATACATTTTTTCCCACAAAATACATAATTTGTATGGATTTTGTGAACCATACAATAGAACCTAAATTTATTCAATGTAGATTGAAGTTTTGGTTTTGTAAAATGTATCCACTGTGTCTAATCAGAAAAAAAAGTTTACTTTTGCTTCTGTATCAGACAACTAAGTGATTTATTTACCAAAGCTAATTAGAGCAGTAGCTGGTGAAAATGGGTACTTAGAAGACATTGTTGTCATTAAAAGTTACTTTTCTTTAAGCAGCGGTTTTACTTGTGTATCATTTGCTTATCTTGTTACATGTTTGTTCTTCATTTTTAAAAGTATCTTTGGAAGCAAAAGTTAAATATGCTTGAGATTCCTTGGGTTGATAACCTGTGTGCATGTCCTAGCTCTGTGACTTCAGGCAGGCTTCATCCTCTCTCCAGTCTTTGCCTGTTTCCTTGTAGGGTGAGATGAGTACGTGTCACGCACGCATAACAGTCCTGGGCACATAGCACACACTGTGGGGCCAGCCGCTGTCAGAATTCTCCTGTTCCTCAGTGTGCGGGTGGGTCGGCCTAAAGAGTGCTGCTTTCCACGTTGTGCCCAAATGAGTGGAAGTTGTGTGGTGCTCAGCACACCTGGGTTGGCCGGAGGGATTGGGGTTGGGGTTGGGTTGAGGTCAGGAAGACATCCTAGAGAAAGGCTGGCTTTGAGCCCTGATTGATGATGAGGCAGCCTGTGATTGATTCAACCAGTACTTCGTTGTAGGGGGTAATATGGGTGAAATAACTTAGTGGTTAAGTCTGCTGTATTAAAAATCAGTCTATAATCCCCAGACAATTCAAATTCTTCAGTATCTTAGGAAACTCTTCTATACCCAGTGGATGTTTAATAATTCAGATTGTAAATGGATTTAAAAACATACTGGCTGGTAGAGTAGGAGACTTCAGCCCACTGGACACATGTGGAAGGGTGTGGTGTCATTCTGAGAAACAAGAGCCACCCTGCTGTGACTCAGGGGGTACCGGGCAGGGTGAGGCCTCTCTAAGGAAGGCCTCACAGTAAGTCAAGGGTGACTTGGCAGGAGTCCCACTTTGTGTTCTGAGGAACACACAGATAAGGAAAGAGAACTCTCCTCAGCTTGAACAAAGCTGTAGAGTGTGACGCCTGGTATCAAAGTAGGTGTTGTCCTCATAGGGCTAGAACTTAAACTTCATGTTTCCTCTGTGTGAGACTGTGGACTGCTTTCCTATAAAATATTTGAGGAGCAAGGAGGGAGTGGGACATGGTTCTTGCCCTCAGGTAGTTCACAGAAAAGTCCCATAAACTGTGTAAGACACCCTGTGCTAGCAAGGGGGTGAGCCGGGCGCTTAAGGAGCAAGAGGGGCGAGCACCCACCCAGCAGTGGAAGCATTCCTGTCTGGACTCCTTCAGAGATAAGGAAATTATCTTGACAACTCAGGGGCAGGCCACAGATGCTCAGATACCAGTGTCTGGAAGGTCTCATCCCTTTGAGCCACACTGTCCTAAGAAGAACTGGATCTGGTAGTAACATGCTGGCACCTGGGTCTCTTGTTGATAAAGGGGAAACCTCTAAATTTTGTACTACATGGAATG
CTCTCCCTCCCTTCCTCCCTTCCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTGTCTTCTGCCATATAGAAATTTAGCATTTAATGTAAATAATACCACCTTACCCGGGCACGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAAGCTGAGGTGGGCGCATTATGAGGTCAGGAGATCAAGACCAGCCTGATCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACCGGGCATGGTGGCGTGCACCTGTAATCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGTGAGATTCTGTCTCAAAAAAAAAATAATAATAATAATGATAATACCACCTCTCCCTCAGAATTGTATGTTGTACTTAGAAAGGCCTTTCCTACTTAAATAATGCAAAAGTATGCTCTAGTATTTTTTTCTAGGATTTTTGTGGCTAAAATTTTTATCTTTAATTCATTTAGGACTTATTTTTGGTATAGAATGAGGCAAGGACCTGATTCTTTTTCCCTTATGGGGAAAAAAAGTCACAATACTATTTATCCAATAATTTTTTTCTTATGGAAATATAATTAACATGTCCATCACCATCACACCTTTTCTTTCTTCTTCTTCTTTTTTCTTGAGACCGAGTTTCGCACTTGTTGCCCAGGCCGGAGTGCAGTGGCGCAACTTGGCCCACTGCAACCTCTGCTTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCTGTCACCACGCCCTGGCTAATTTTTGCATTTTTAGTAGACACAAAGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTCTGCTTTTTATTATATTTTTCCTTTTTTTTTTTTTCTTTTTTGCCTTCCTGTGCAGAGGAAACACTATTTTCTTCTAAAGCTTGGTTTCTGCTGACCAGTAGCAATTTTTAACATCAGTCTGATTTCCCTCTGTCAGCCTATAGGCTTTGCTGGGTTATCTCTCCTGACTAATTTGTGTAGCAACTTCACATGAATTTAAACATTTGTATCATCAGTTAACACTCACTTTGAAAATGTTATTGGGAGGCTTGTTAAGTCAGGTGTATTTTGTGTGACTGCTCTACACTCAGGCCTTCTGGAAACCCTGCAGAGGGTAGCTCTAGTGGCCAGCTAGCTCTCTTGCTGAAAATGAGCAACATAAGTACATGAAAAACCCAACAAGTAGGATTTGAAAGCGGGGCTAATTGTACCCTTATTTCTTCTGGGGATAAAAGTCTTAAACTTTGTTTAAAGTAAAATGTTTTTATTTCTGACGGTGATTTGTTTCACTTAAATAGCTTGTTGTTTGTTTCTTTCATTTCTCTTAAGTTTTGGGTTGGGTTTGGTTTGTTTCCCGCAAGTTTTGCCCGTGCCGCCTTCCTCCTTGTGCCTGCAGGGACATTTGCTGGTGTGGCAGCCTCCAGGCCCGTCCCCAGCCTTTTTCTTGGCACACCTTCTCTAGGATGGCTGGGACAGTGACTTAGCTTCTACACCTGTGACTAACCATTTTCATTCCATTCTACAGCTTTGACAATTATTCTGCCAATGTTATGGTAGATGGAAAACCGGTGAATCTGGGCTTATGGGATACAGCTGGAGAAGAAGATTATGACAGATTACGCCCCCTATCCTATCCGCAAACAGTAAGGATTGCAGCTGACTTTTAATGTGTCTTTTAGAGTATATAATTCTCGAGCGCTTAATTAGTGCATGTTACCTATGGACTTGCTTATATTGCCATCATTTGGGTATTGAGTAAATAGCAAACAGGGTGGGATTGGTTCCATGTAAACATCCCCCTAGATGCAAGCCCAGGGGTTTTGTGTTTTGAGCGTTACCAGCTGTTCCATTGTTGGGCATTTTACAGTCTTCCATTTAGCTTTAGAATAACCGTATGAAAGAGCTACTTTTTGTTTTTGCAAACCAGTTTTTAACACCAATTAGTTTGAAGGCAGGTTTGCTGTGTGACATTTTTGTACCACAGAATCAAATTAGGCAGTTAAGATTCAGGTTTCTTTAAACCAAGTTAGTAACTAATCTCACAGGTTTAATACATTTTTTCCCACAAAATACATAATTTGTATGGATTTTGTGAACCATACAATAGAACCTAAATTTATTCAATGTAGATTGAAGTTTTGGTTTTGTAAAATGTATCCACTGTGTCTAATCAGAAAAAAAAGTTTACTTTTGCTTCTGTATCAGACAACTAAGTGATTTATTTACCAAAGCTAATTAGAGCAGTAGCTGGTGAAAATGGGTACTTAGAAGACATTGTTGTCATTAAAAGTTACTTTTCTTTAAGCAGCGGTTTTACTTGTGTATCATTTGCTTATCTTGTTACATGTTTGTTCTTCATTTTTAAAAGTATCTTTGGAAGCAAAAGTTAAATATGCTTGAGATTCCTTGGGTTGATAACCTGTGTGCATGTCCTAGCTCTGTGACTTCAGGCAGGCTTCATCCTCTCTCCAGTCTTTGCCTGTTTCCTTGTAGGGTGAGATGAGTACGTGTCACGCACGCATAACAGTCCTGGGCACATAGCACACACTGTGGGGCCAGCCGCTGTCAGAATTCTCCTGTTCCTCAGTGTGCGGGTGGGTCGGCCTAAAGAGTGCTGCTTTCCACGTTGTGCCCAAATGAGTGGAAGTTGTGTGGTGCTCAGCACACCTGGGTTGGCCGGAGGGATTGGGGTTGGGGTTGGGTTGAGGTCAGGAAGACATCCTAGAGAAAGGCTGGCTTTGAGCCCTGATTGATGATGAGGCAGCCTGTGATTGATTCAACCAGTACTTCGTTGTAGGGGGTAATATGGGTGAAATAACTTAGTGGTTAAGTCTGCTGTATTAAAAATCAGTCTATAATCCCCAGACAATTCAAATTCTTCAGTATCTTAGGAAACTCTTCTATACCCAGTGGATGTTTAATAATTCAGATTGTAAATGGATTTAAAAACATACTGGCTGGTAGAGTAGGAGACTTCAGCCCACTGGACACATGTGGAAGGGTGTGGTGTCATTCTGAGAAACAAGAGCCACCCTGCTGTGACTCAGGGGGTACCGGGCAGGGTGAGGCCTCTCTAAGGAAGGCCTCACAGTAAGTCAAGGGTGACTTGGCAGGAGTCCCACTTTGTGTTCTGAGGAACACACAGATAAGGAAAGAGAACTCTCCTCAGCTTGAACAAAGCTGTAGAGTGTGACGCCTGGTATCAAAGTAGGTGTTGTCCTCATAGGGCTAGAACTTAAACTTCATGTTTCCTCTGTGTGAGACTGTGGACTGCTTTCCTATAAAATATTTGAGGAGCAAGGAGGGAGTGGGACATGGTTCTTGCCCTCAGGTAGTTCACAGAAAAGTCCCATAAACTGTGTAAGACACCCTGTGCTAGCAAGGGGGTGAGCCGGGCGCTTAAGGAGCAAGAGGGGCGAGCACCCACCCAGCAGTGGAAGCATTCCTGTCTGGACTCCTTCAGAGATAAGGAAATTATCTTGACAACTCAGGGGCAGGCCACAGATGCTCAGATACCAGTGTCTGGAAGGTCTCATCCCTTTGAGCCACACTGTCCTAAGAAGAACTGGATCTGGTAGTAACATGCTGGCACCTGGGTCTCTTGTTGATAAAGGGGAAACCTCTAAATTTTGTACTACATGGAATG
Task1_train_10982
Chromosome 7 houses a mutation in gene RAC1 (Rac family small GTPase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Intellectual disability, autosomal dominant 48
TCCCTCCCTTCCTCCCTTCCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTGTCTTCTGCCATATAGAAATTTAGCATTTAATGTAAATAATACCACCTTACCCGGGCACGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAAGCTGAGGTGGGCGCATTATGAGGTCAGGAGATCAAGACCAGCCTGATCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACCGGGCATGGTGGCGTGCACCTGTAATCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGTGAGATTCTGTCTCAAAAAAAAAATAATAATAATAATGATAATACCACCTCTCCCTCAGAATTGTATGTTGTACTTAGAAAGGCCTTTCCTACTTAAATAATGCAAAAGTATGCTCTAGTATTTTTTTCTAGGATTTTTGTGGCTAAAATTTTTATCTTTAATTCATTTAGGACTTATTTTTGGTATAGAATGAGGCAAGGACCTGATTCTTTTTCCCTTATGGGGAAAAAAAGTCACAATACTATTTATCCAATAATTTTTTTCTTATGGAAATATAATTAACATGTCCATCACCATCACACCTTTTCTTTCTTCTTCTTCTTTTTTCTTGAGACCGAGTTTCGCACTTGTTGCCCAGGCCGGAGTGCAGTGGCGCAACTTGGCCCACTGCAACCTCTGCTTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCTGTCACCACGCCCTGGCTAATTTTTGCATTTTTAGTAGACACAAAGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTCTGCTTTTTATTATATTTTTCCTTTTTTTTTTTTTCTTTTTTGCCTTCCTGTGCAGAGGAAACACTATTTTCTTCTAAAGCTTGGTTTCTGCTGACCAGTAGCAATTTTTAACATCAGTCTGATTTCCCTCTGTCAGCCTATAGGCTTTGCTGGGTTATCTCTCCTGACTAATTTGTGTAGCAACTTCACATGAATTTAAACATTTGTATCATCAGTTAACACTCACTTTGAAAATGTTATTGGGAGGCTTGTTAAGTCAGGTGTATTTTGTGTGACTGCTCTACACTCAGGCCTTCTGGAAACCCTGCAGAGGGTAGCTCTAGTGGCCAGCTAGCTCTCTTGCTGAAAATGAGCAACATAAGTACATGAAAAACCCAACAAGTAGGATTTGAAAGCGGGGCTAATTGTACCCTTATTTCTTCTGGGGATAAAAGTCTTAAACTTTGTTTAAAGTAAAATGTTTTTATTTCTGACGGTGATTTGTTTCACTTAAATAGCTTGTTGTTTGTTTCTTTCATTTCTCTTAAGTTTTGGGTTGGGTTTGGTTTGTTTCCCGCAAGTTTTGCCCGTGCCGCCTTCCTCCTTGTGCCTGCAGGGACATTTGCTGGTGTGGCAGCCTCCAGGCCCGTCCCCAGCCTTTTTCTTGGCACACCTTCTCTAGGATGGCTGGGACAGTGACTTAGCTTCTACACCTGTGACTAACCATTTTCATTCCATTCTACAGCTTTGACAATTATTCTGCCAATGTTATGGTAGATGGAAAACCGGTGAATCTGGGCTTATGGGATACAGCTGGACAAGAAGATTATGACAGATTACGCCCCCTATCCTATCCGCAAACAGTAAGGATTGCAGCTGACTTTTAATGTGTCTTTTAGAGTATATAATTCTCGAGCGCTTAATTAGTGCATGTTACCTATGGACTTGCTTATATTGCCATCATTTGGGTATTGAGTAAATAGCAAACAGGGTGGGATTGGTTCCATGTAAACATCCCCCTAGATGCAAGCCCAGGGGTTTTGTGTTTTGAGCGTTACCAGCTGTTCCATTGTTGGGCATTTTACAGTCTTCCATTTAGCTTTAGAATAACCGTATGAAAGAGCTACTTTTTGTTTTTGCAAACCAGTTTTTAACACCAATTAGTTTGAAGGCAGGTTTGCTGTGTGACATTTTTGTACCACAGAATCAAATTAGGCAGTTAAGATTCAGGTTTCTTTAAACCAAGTTAGTAACTAATCTCACAGGTTTAATACATTTTTTCCCACAAAATACATAATTTGTATGGATTTTGTGAACCATACAATAGAACCTAAATTTATTCAATGTAGATTGAAGTTTTGGTTTTGTAAAATGTATCCACTGTGTCTAATCAGAAAAAAAAGTTTACTTTTGCTTCTGTATCAGACAACTAAGTGATTTATTTACCAAAGCTAATTAGAGCAGTAGCTGGTGAAAATGGGTACTTAGAAGACATTGTTGTCATTAAAAGTTACTTTTCTTTAAGCAGCGGTTTTACTTGTGTATCATTTGCTTATCTTGTTACATGTTTGTTCTTCATTTTTAAAAGTATCTTTGGAAGCAAAAGTTAAATATGCTTGAGATTCCTTGGGTTGATAACCTGTGTGCATGTCCTAGCTCTGTGACTTCAGGCAGGCTTCATCCTCTCTCCAGTCTTTGCCTGTTTCCTTGTAGGGTGAGATGAGTACGTGTCACGCACGCATAACAGTCCTGGGCACATAGCACACACTGTGGGGCCAGCCGCTGTCAGAATTCTCCTGTTCCTCAGTGTGCGGGTGGGTCGGCCTAAAGAGTGCTGCTTTCCACGTTGTGCCCAAATGAGTGGAAGTTGTGTGGTGCTCAGCACACCTGGGTTGGCCGGAGGGATTGGGGTTGGGGTTGGGTTGAGGTCAGGAAGACATCCTAGAGAAAGGCTGGCTTTGAGCCCTGATTGATGATGAGGCAGCCTGTGATTGATTCAACCAGTACTTCGTTGTAGGGGGTAATATGGGTGAAATAACTTAGTGGTTAAGTCTGCTGTATTAAAAATCAGTCTATAATCCCCAGACAATTCAAATTCTTCAGTATCTTAGGAAACTCTTCTATACCCAGTGGATGTTTAATAATTCAGATTGTAAATGGATTTAAAAACATACTGGCTGGTAGAGTAGGAGACTTCAGCCCACTGGACACATGTGGAAGGGTGTGGTGTCATTCTGAGAAACAAGAGCCACCCTGCTGTGACTCAGGGGGTACCGGGCAGGGTGAGGCCTCTCTAAGGAAGGCCTCACAGTAAGTCAAGGGTGACTTGGCAGGAGTCCCACTTTGTGTTCTGAGGAACACACAGATAAGGAAAGAGAACTCTCCTCAGCTTGAACAAAGCTGTAGAGTGTGACGCCTGGTATCAAAGTAGGTGTTGTCCTCATAGGGCTAGAACTTAAACTTCATGTTTCCTCTGTGTGAGACTGTGGACTGCTTTCCTATAAAATATTTGAGGAGCAAGGAGGGAGTGGGACATGGTTCTTGCCCTCAGGTAGTTCACAGAAAAGTCCCATAAACTGTGTAAGACACCCTGTGCTAGCAAGGGGGTGAGCCGGGCGCTTAAGGAGCAAGAGGGGCGAGCACCCACCCAGCAGTGGAAGCATTCCTGTCTGGACTCCTTCAGAGATAAGGAAATTATCTTGACAACTCAGGGGCAGGCCACAGATGCTCAGATACCAGTGTCTGGAAGGTCTCATCCCTTTGAGCCACACTGTCCTAAGAAGAACTGGATCTGGTAGTAACATGCTGGCACCTGGGTCTCTTGTTGATAAAGGGGAAACCTCTAAATTTTGTACTACATGGAATGTGG
TCCCTCCCTTCCTCCCTTCCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTGTCTTCTGCCATATAGAAATTTAGCATTTAATGTAAATAATACCACCTTACCCGGGCACGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAAGCTGAGGTGGGCGCATTATGAGGTCAGGAGATCAAGACCAGCCTGATCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACCGGGCATGGTGGCGTGCACCTGTAATCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGTGAGATTCTGTCTCAAAAAAAAAATAATAATAATAATGATAATACCACCTCTCCCTCAGAATTGTATGTTGTACTTAGAAAGGCCTTTCCTACTTAAATAATGCAAAAGTATGCTCTAGTATTTTTTTCTAGGATTTTTGTGGCTAAAATTTTTATCTTTAATTCATTTAGGACTTATTTTTGGTATAGAATGAGGCAAGGACCTGATTCTTTTTCCCTTATGGGGAAAAAAAGTCACAATACTATTTATCCAATAATTTTTTTCTTATGGAAATATAATTAACATGTCCATCACCATCACACCTTTTCTTTCTTCTTCTTCTTTTTTCTTGAGACCGAGTTTCGCACTTGTTGCCCAGGCCGGAGTGCAGTGGCGCAACTTGGCCCACTGCAACCTCTGCTTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCTGTCACCACGCCCTGGCTAATTTTTGCATTTTTAGTAGACACAAAGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTCTGCTTTTTATTATATTTTTCCTTTTTTTTTTTTTCTTTTTTGCCTTCCTGTGCAGAGGAAACACTATTTTCTTCTAAAGCTTGGTTTCTGCTGACCAGTAGCAATTTTTAACATCAGTCTGATTTCCCTCTGTCAGCCTATAGGCTTTGCTGGGTTATCTCTCCTGACTAATTTGTGTAGCAACTTCACATGAATTTAAACATTTGTATCATCAGTTAACACTCACTTTGAAAATGTTATTGGGAGGCTTGTTAAGTCAGGTGTATTTTGTGTGACTGCTCTACACTCAGGCCTTCTGGAAACCCTGCAGAGGGTAGCTCTAGTGGCCAGCTAGCTCTCTTGCTGAAAATGAGCAACATAAGTACATGAAAAACCCAACAAGTAGGATTTGAAAGCGGGGCTAATTGTACCCTTATTTCTTCTGGGGATAAAAGTCTTAAACTTTGTTTAAAGTAAAATGTTTTTATTTCTGACGGTGATTTGTTTCACTTAAATAGCTTGTTGTTTGTTTCTTTCATTTCTCTTAAGTTTTGGGTTGGGTTTGGTTTGTTTCCCGCAAGTTTTGCCCGTGCCGCCTTCCTCCTTGTGCCTGCAGGGACATTTGCTGGTGTGGCAGCCTCCAGGCCCGTCCCCAGCCTTTTTCTTGGCACACCTTCTCTAGGATGGCTGGGACAGTGACTTAGCTTCTACACCTGTGACTAACCATTTTCATTCCATTCTACAGCTTTGACAATTATTCTGCCAATGTTATGGTAGATGGAAAACCGGTGAATCTGGGCTTATGGGATACAGCTGGACAAAAAGATTATGACAGATTACGCCCCCTATCCTATCCGCAAACAGTAAGGATTGCAGCTGACTTTTAATGTGTCTTTTAGAGTATATAATTCTCGAGCGCTTAATTAGTGCATGTTACCTATGGACTTGCTTATATTGCCATCATTTGGGTATTGAGTAAATAGCAAACAGGGTGGGATTGGTTCCATGTAAACATCCCCCTAGATGCAAGCCCAGGGGTTTTGTGTTTTGAGCGTTACCAGCTGTTCCATTGTTGGGCATTTTACAGTCTTCCATTTAGCTTTAGAATAACCGTATGAAAGAGCTACTTTTTGTTTTTGCAAACCAGTTTTTAACACCAATTAGTTTGAAGGCAGGTTTGCTGTGTGACATTTTTGTACCACAGAATCAAATTAGGCAGTTAAGATTCAGGTTTCTTTAAACCAAGTTAGTAACTAATCTCACAGGTTTAATACATTTTTTCCCACAAAATACATAATTTGTATGGATTTTGTGAACCATACAATAGAACCTAAATTTATTCAATGTAGATTGAAGTTTTGGTTTTGTAAAATGTATCCACTGTGTCTAATCAGAAAAAAAAGTTTACTTTTGCTTCTGTATCAGACAACTAAGTGATTTATTTACCAAAGCTAATTAGAGCAGTAGCTGGTGAAAATGGGTACTTAGAAGACATTGTTGTCATTAAAAGTTACTTTTCTTTAAGCAGCGGTTTTACTTGTGTATCATTTGCTTATCTTGTTACATGTTTGTTCTTCATTTTTAAAAGTATCTTTGGAAGCAAAAGTTAAATATGCTTGAGATTCCTTGGGTTGATAACCTGTGTGCATGTCCTAGCTCTGTGACTTCAGGCAGGCTTCATCCTCTCTCCAGTCTTTGCCTGTTTCCTTGTAGGGTGAGATGAGTACGTGTCACGCACGCATAACAGTCCTGGGCACATAGCACACACTGTGGGGCCAGCCGCTGTCAGAATTCTCCTGTTCCTCAGTGTGCGGGTGGGTCGGCCTAAAGAGTGCTGCTTTCCACGTTGTGCCCAAATGAGTGGAAGTTGTGTGGTGCTCAGCACACCTGGGTTGGCCGGAGGGATTGGGGTTGGGGTTGGGTTGAGGTCAGGAAGACATCCTAGAGAAAGGCTGGCTTTGAGCCCTGATTGATGATGAGGCAGCCTGTGATTGATTCAACCAGTACTTCGTTGTAGGGGGTAATATGGGTGAAATAACTTAGTGGTTAAGTCTGCTGTATTAAAAATCAGTCTATAATCCCCAGACAATTCAAATTCTTCAGTATCTTAGGAAACTCTTCTATACCCAGTGGATGTTTAATAATTCAGATTGTAAATGGATTTAAAAACATACTGGCTGGTAGAGTAGGAGACTTCAGCCCACTGGACACATGTGGAAGGGTGTGGTGTCATTCTGAGAAACAAGAGCCACCCTGCTGTGACTCAGGGGGTACCGGGCAGGGTGAGGCCTCTCTAAGGAAGGCCTCACAGTAAGTCAAGGGTGACTTGGCAGGAGTCCCACTTTGTGTTCTGAGGAACACACAGATAAGGAAAGAGAACTCTCCTCAGCTTGAACAAAGCTGTAGAGTGTGACGCCTGGTATCAAAGTAGGTGTTGTCCTCATAGGGCTAGAACTTAAACTTCATGTTTCCTCTGTGTGAGACTGTGGACTGCTTTCCTATAAAATATTTGAGGAGCAAGGAGGGAGTGGGACATGGTTCTTGCCCTCAGGTAGTTCACAGAAAAGTCCCATAAACTGTGTAAGACACCCTGTGCTAGCAAGGGGGTGAGCCGGGCGCTTAAGGAGCAAGAGGGGCGAGCACCCACCCAGCAGTGGAAGCATTCCTGTCTGGACTCCTTCAGAGATAAGGAAATTATCTTGACAACTCAGGGGCAGGCCACAGATGCTCAGATACCAGTGTCTGGAAGGTCTCATCCCTTTGAGCCACACTGTCCTAAGAAGAACTGGATCTGGTAGTAACATGCTGGCACCTGGGTCTCTTGTTGATAAAGGGGAAACCTCTAAATTTTGTACTACATGGAATGTGG
Task1_train_10983
A sequence alteration has been identified in RAC1 (Rac family small GTPase 1) on Chromosome 7. Is it disease-inducing or harmless?
Pathogenic; not provided
CCTTCCTCCCTTCCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTGTCTTCTGCCATATAGAAATTTAGCATTTAATGTAAATAATACCACCTTACCCGGGCACGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAAGCTGAGGTGGGCGCATTATGAGGTCAGGAGATCAAGACCAGCCTGATCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACCGGGCATGGTGGCGTGCACCTGTAATCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGTGAGATTCTGTCTCAAAAAAAAAATAATAATAATAATGATAATACCACCTCTCCCTCAGAATTGTATGTTGTACTTAGAAAGGCCTTTCCTACTTAAATAATGCAAAAGTATGCTCTAGTATTTTTTTCTAGGATTTTTGTGGCTAAAATTTTTATCTTTAATTCATTTAGGACTTATTTTTGGTATAGAATGAGGCAAGGACCTGATTCTTTTTCCCTTATGGGGAAAAAAAGTCACAATACTATTTATCCAATAATTTTTTTCTTATGGAAATATAATTAACATGTCCATCACCATCACACCTTTTCTTTCTTCTTCTTCTTTTTTCTTGAGACCGAGTTTCGCACTTGTTGCCCAGGCCGGAGTGCAGTGGCGCAACTTGGCCCACTGCAACCTCTGCTTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCTGTCACCACGCCCTGGCTAATTTTTGCATTTTTAGTAGACACAAAGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTCTGCTTTTTATTATATTTTTCCTTTTTTTTTTTTTCTTTTTTGCCTTCCTGTGCAGAGGAAACACTATTTTCTTCTAAAGCTTGGTTTCTGCTGACCAGTAGCAATTTTTAACATCAGTCTGATTTCCCTCTGTCAGCCTATAGGCTTTGCTGGGTTATCTCTCCTGACTAATTTGTGTAGCAACTTCACATGAATTTAAACATTTGTATCATCAGTTAACACTCACTTTGAAAATGTTATTGGGAGGCTTGTTAAGTCAGGTGTATTTTGTGTGACTGCTCTACACTCAGGCCTTCTGGAAACCCTGCAGAGGGTAGCTCTAGTGGCCAGCTAGCTCTCTTGCTGAAAATGAGCAACATAAGTACATGAAAAACCCAACAAGTAGGATTTGAAAGCGGGGCTAATTGTACCCTTATTTCTTCTGGGGATAAAAGTCTTAAACTTTGTTTAAAGTAAAATGTTTTTATTTCTGACGGTGATTTGTTTCACTTAAATAGCTTGTTGTTTGTTTCTTTCATTTCTCTTAAGTTTTGGGTTGGGTTTGGTTTGTTTCCCGCAAGTTTTGCCCGTGCCGCCTTCCTCCTTGTGCCTGCAGGGACATTTGCTGGTGTGGCAGCCTCCAGGCCCGTCCCCAGCCTTTTTCTTGGCACACCTTCTCTAGGATGGCTGGGACAGTGACTTAGCTTCTACACCTGTGACTAACCATTTTCATTCCATTCTACAGCTTTGACAATTATTCTGCCAATGTTATGGTAGATGGAAAACCGGTGAATCTGGGCTTATGGGATACAGCTGGACAAGAAGATTATGACAGATTACGCCCCCTATCCTATCCGCAAACAGTAAGGATTGCAGCTGACTTTTAATGTGTCTTTTAGAGTATATAATTCTCGAGCGCTTAATTAGTGCATGTTACCTATGGACTTGCTTATATTGCCATCATTTGGGTATTGAGTAAATAGCAAACAGGGTGGGATTGGTTCCATGTAAACATCCCCCTAGATGCAAGCCCAGGGGTTTTGTGTTTTGAGCGTTACCAGCTGTTCCATTGTTGGGCATTTTACAGTCTTCCATTTAGCTTTAGAATAACCGTATGAAAGAGCTACTTTTTGTTTTTGCAAACCAGTTTTTAACACCAATTAGTTTGAAGGCAGGTTTGCTGTGTGACATTTTTGTACCACAGAATCAAATTAGGCAGTTAAGATTCAGGTTTCTTTAAACCAAGTTAGTAACTAATCTCACAGGTTTAATACATTTTTTCCCACAAAATACATAATTTGTATGGATTTTGTGAACCATACAATAGAACCTAAATTTATTCAATGTAGATTGAAGTTTTGGTTTTGTAAAATGTATCCACTGTGTCTAATCAGAAAAAAAAGTTTACTTTTGCTTCTGTATCAGACAACTAAGTGATTTATTTACCAAAGCTAATTAGAGCAGTAGCTGGTGAAAATGGGTACTTAGAAGACATTGTTGTCATTAAAAGTTACTTTTCTTTAAGCAGCGGTTTTACTTGTGTATCATTTGCTTATCTTGTTACATGTTTGTTCTTCATTTTTAAAAGTATCTTTGGAAGCAAAAGTTAAATATGCTTGAGATTCCTTGGGTTGATAACCTGTGTGCATGTCCTAGCTCTGTGACTTCAGGCAGGCTTCATCCTCTCTCCAGTCTTTGCCTGTTTCCTTGTAGGGTGAGATGAGTACGTGTCACGCACGCATAACAGTCCTGGGCACATAGCACACACTGTGGGGCCAGCCGCTGTCAGAATTCTCCTGTTCCTCAGTGTGCGGGTGGGTCGGCCTAAAGAGTGCTGCTTTCCACGTTGTGCCCAAATGAGTGGAAGTTGTGTGGTGCTCAGCACACCTGGGTTGGCCGGAGGGATTGGGGTTGGGGTTGGGTTGAGGTCAGGAAGACATCCTAGAGAAAGGCTGGCTTTGAGCCCTGATTGATGATGAGGCAGCCTGTGATTGATTCAACCAGTACTTCGTTGTAGGGGGTAATATGGGTGAAATAACTTAGTGGTTAAGTCTGCTGTATTAAAAATCAGTCTATAATCCCCAGACAATTCAAATTCTTCAGTATCTTAGGAAACTCTTCTATACCCAGTGGATGTTTAATAATTCAGATTGTAAATGGATTTAAAAACATACTGGCTGGTAGAGTAGGAGACTTCAGCCCACTGGACACATGTGGAAGGGTGTGGTGTCATTCTGAGAAACAAGAGCCACCCTGCTGTGACTCAGGGGGTACCGGGCAGGGTGAGGCCTCTCTAAGGAAGGCCTCACAGTAAGTCAAGGGTGACTTGGCAGGAGTCCCACTTTGTGTTCTGAGGAACACACAGATAAGGAAAGAGAACTCTCCTCAGCTTGAACAAAGCTGTAGAGTGTGACGCCTGGTATCAAAGTAGGTGTTGTCCTCATAGGGCTAGAACTTAAACTTCATGTTTCCTCTGTGTGAGACTGTGGACTGCTTTCCTATAAAATATTTGAGGAGCAAGGAGGGAGTGGGACATGGTTCTTGCCCTCAGGTAGTTCACAGAAAAGTCCCATAAACTGTGTAAGACACCCTGTGCTAGCAAGGGGGTGAGCCGGGCGCTTAAGGAGCAAGAGGGGCGAGCACCCACCCAGCAGTGGAAGCATTCCTGTCTGGACTCCTTCAGAGATAAGGAAATTATCTTGACAACTCAGGGGCAGGCCACAGATGCTCAGATACCAGTGTCTGGAAGGTCTCATCCCTTTGAGCCACACTGTCCTAAGAAGAACTGGATCTGGTAGTAACATGCTGGCACCTGGGTCTCTTGTTGATAAAGGGGAAACCTCTAAATTTTGTACTACATGGAATGTGGTCCCTG
CCTTCCTCCCTTCCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTGTCTTCTGCCATATAGAAATTTAGCATTTAATGTAAATAATACCACCTTACCCGGGCACGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAAGCTGAGGTGGGCGCATTATGAGGTCAGGAGATCAAGACCAGCCTGATCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACCGGGCATGGTGGCGTGCACCTGTAATCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGTGAGATTCTGTCTCAAAAAAAAAATAATAATAATAATGATAATACCACCTCTCCCTCAGAATTGTATGTTGTACTTAGAAAGGCCTTTCCTACTTAAATAATGCAAAAGTATGCTCTAGTATTTTTTTCTAGGATTTTTGTGGCTAAAATTTTTATCTTTAATTCATTTAGGACTTATTTTTGGTATAGAATGAGGCAAGGACCTGATTCTTTTTCCCTTATGGGGAAAAAAAGTCACAATACTATTTATCCAATAATTTTTTTCTTATGGAAATATAATTAACATGTCCATCACCATCACACCTTTTCTTTCTTCTTCTTCTTTTTTCTTGAGACCGAGTTTCGCACTTGTTGCCCAGGCCGGAGTGCAGTGGCGCAACTTGGCCCACTGCAACCTCTGCTTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCTGTCACCACGCCCTGGCTAATTTTTGCATTTTTAGTAGACACAAAGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTCTGCTTTTTATTATATTTTTCCTTTTTTTTTTTTTCTTTTTTGCCTTCCTGTGCAGAGGAAACACTATTTTCTTCTAAAGCTTGGTTTCTGCTGACCAGTAGCAATTTTTAACATCAGTCTGATTTCCCTCTGTCAGCCTATAGGCTTTGCTGGGTTATCTCTCCTGACTAATTTGTGTAGCAACTTCACATGAATTTAAACATTTGTATCATCAGTTAACACTCACTTTGAAAATGTTATTGGGAGGCTTGTTAAGTCAGGTGTATTTTGTGTGACTGCTCTACACTCAGGCCTTCTGGAAACCCTGCAGAGGGTAGCTCTAGTGGCCAGCTAGCTCTCTTGCTGAAAATGAGCAACATAAGTACATGAAAAACCCAACAAGTAGGATTTGAAAGCGGGGCTAATTGTACCCTTATTTCTTCTGGGGATAAAAGTCTTAAACTTTGTTTAAAGTAAAATGTTTTTATTTCTGACGGTGATTTGTTTCACTTAAATAGCTTGTTGTTTGTTTCTTTCATTTCTCTTAAGTTTTGGGTTGGGTTTGGTTTGTTTCCCGCAAGTTTTGCCCGTGCCGCCTTCCTCCTTGTGCCTGCAGGGACATTTGCTGGTGTGGCAGCCTCCAGGCCCGTCCCCAGCCTTTTTCTTGGCACACCTTCTCTAGGATGGCTGGGACAGTGACTTAGCTTCTACACCTGTGACTAACCATTTTCATTCCATTCTACAGCTTTGACAATTATTCTGCCAATGTTATGGTAGATGGAAAACCGGTGAATCTGGGCTTATGGGATACAGCTGGACAAGAAGATGATGACAGATTACGCCCCCTATCCTATCCGCAAACAGTAAGGATTGCAGCTGACTTTTAATGTGTCTTTTAGAGTATATAATTCTCGAGCGCTTAATTAGTGCATGTTACCTATGGACTTGCTTATATTGCCATCATTTGGGTATTGAGTAAATAGCAAACAGGGTGGGATTGGTTCCATGTAAACATCCCCCTAGATGCAAGCCCAGGGGTTTTGTGTTTTGAGCGTTACCAGCTGTTCCATTGTTGGGCATTTTACAGTCTTCCATTTAGCTTTAGAATAACCGTATGAAAGAGCTACTTTTTGTTTTTGCAAACCAGTTTTTAACACCAATTAGTTTGAAGGCAGGTTTGCTGTGTGACATTTTTGTACCACAGAATCAAATTAGGCAGTTAAGATTCAGGTTTCTTTAAACCAAGTTAGTAACTAATCTCACAGGTTTAATACATTTTTTCCCACAAAATACATAATTTGTATGGATTTTGTGAACCATACAATAGAACCTAAATTTATTCAATGTAGATTGAAGTTTTGGTTTTGTAAAATGTATCCACTGTGTCTAATCAGAAAAAAAAGTTTACTTTTGCTTCTGTATCAGACAACTAAGTGATTTATTTACCAAAGCTAATTAGAGCAGTAGCTGGTGAAAATGGGTACTTAGAAGACATTGTTGTCATTAAAAGTTACTTTTCTTTAAGCAGCGGTTTTACTTGTGTATCATTTGCTTATCTTGTTACATGTTTGTTCTTCATTTTTAAAAGTATCTTTGGAAGCAAAAGTTAAATATGCTTGAGATTCCTTGGGTTGATAACCTGTGTGCATGTCCTAGCTCTGTGACTTCAGGCAGGCTTCATCCTCTCTCCAGTCTTTGCCTGTTTCCTTGTAGGGTGAGATGAGTACGTGTCACGCACGCATAACAGTCCTGGGCACATAGCACACACTGTGGGGCCAGCCGCTGTCAGAATTCTCCTGTTCCTCAGTGTGCGGGTGGGTCGGCCTAAAGAGTGCTGCTTTCCACGTTGTGCCCAAATGAGTGGAAGTTGTGTGGTGCTCAGCACACCTGGGTTGGCCGGAGGGATTGGGGTTGGGGTTGGGTTGAGGTCAGGAAGACATCCTAGAGAAAGGCTGGCTTTGAGCCCTGATTGATGATGAGGCAGCCTGTGATTGATTCAACCAGTACTTCGTTGTAGGGGGTAATATGGGTGAAATAACTTAGTGGTTAAGTCTGCTGTATTAAAAATCAGTCTATAATCCCCAGACAATTCAAATTCTTCAGTATCTTAGGAAACTCTTCTATACCCAGTGGATGTTTAATAATTCAGATTGTAAATGGATTTAAAAACATACTGGCTGGTAGAGTAGGAGACTTCAGCCCACTGGACACATGTGGAAGGGTGTGGTGTCATTCTGAGAAACAAGAGCCACCCTGCTGTGACTCAGGGGGTACCGGGCAGGGTGAGGCCTCTCTAAGGAAGGCCTCACAGTAAGTCAAGGGTGACTTGGCAGGAGTCCCACTTTGTGTTCTGAGGAACACACAGATAAGGAAAGAGAACTCTCCTCAGCTTGAACAAAGCTGTAGAGTGTGACGCCTGGTATCAAAGTAGGTGTTGTCCTCATAGGGCTAGAACTTAAACTTCATGTTTCCTCTGTGTGAGACTGTGGACTGCTTTCCTATAAAATATTTGAGGAGCAAGGAGGGAGTGGGACATGGTTCTTGCCCTCAGGTAGTTCACAGAAAAGTCCCATAAACTGTGTAAGACACCCTGTGCTAGCAAGGGGGTGAGCCGGGCGCTTAAGGAGCAAGAGGGGCGAGCACCCACCCAGCAGTGGAAGCATTCCTGTCTGGACTCCTTCAGAGATAAGGAAATTATCTTGACAACTCAGGGGCAGGCCACAGATGCTCAGATACCAGTGTCTGGAAGGTCTCATCCCTTTGAGCCACACTGTCCTAAGAAGAACTGGATCTGGTAGTAACATGCTGGCACCTGGGTCTCTTGTTGATAAAGGGGAAACCTCTAAATTTTGTACTACATGGAATGTGGTCCCTG
Task1_train_10984
An alteration has been detected in RAC1 (Rac family small GTPase 1) on Chromosome 7. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Intellectual disability, autosomal dominant 48
CCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTGTCTTCTGCCATATAGAAATTTAGCATTTAATGTAAATAATACCACCTTACCCGGGCACGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAAGCTGAGGTGGGCGCATTATGAGGTCAGGAGATCAAGACCAGCCTGATCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACCGGGCATGGTGGCGTGCACCTGTAATCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGTGAGATTCTGTCTCAAAAAAAAAATAATAATAATAATGATAATACCACCTCTCCCTCAGAATTGTATGTTGTACTTAGAAAGGCCTTTCCTACTTAAATAATGCAAAAGTATGCTCTAGTATTTTTTTCTAGGATTTTTGTGGCTAAAATTTTTATCTTTAATTCATTTAGGACTTATTTTTGGTATAGAATGAGGCAAGGACCTGATTCTTTTTCCCTTATGGGGAAAAAAAGTCACAATACTATTTATCCAATAATTTTTTTCTTATGGAAATATAATTAACATGTCCATCACCATCACACCTTTTCTTTCTTCTTCTTCTTTTTTCTTGAGACCGAGTTTCGCACTTGTTGCCCAGGCCGGAGTGCAGTGGCGCAACTTGGCCCACTGCAACCTCTGCTTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCTGTCACCACGCCCTGGCTAATTTTTGCATTTTTAGTAGACACAAAGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTCTGCTTTTTATTATATTTTTCCTTTTTTTTTTTTTCTTTTTTGCCTTCCTGTGCAGAGGAAACACTATTTTCTTCTAAAGCTTGGTTTCTGCTGACCAGTAGCAATTTTTAACATCAGTCTGATTTCCCTCTGTCAGCCTATAGGCTTTGCTGGGTTATCTCTCCTGACTAATTTGTGTAGCAACTTCACATGAATTTAAACATTTGTATCATCAGTTAACACTCACTTTGAAAATGTTATTGGGAGGCTTGTTAAGTCAGGTGTATTTTGTGTGACTGCTCTACACTCAGGCCTTCTGGAAACCCTGCAGAGGGTAGCTCTAGTGGCCAGCTAGCTCTCTTGCTGAAAATGAGCAACATAAGTACATGAAAAACCCAACAAGTAGGATTTGAAAGCGGGGCTAATTGTACCCTTATTTCTTCTGGGGATAAAAGTCTTAAACTTTGTTTAAAGTAAAATGTTTTTATTTCTGACGGTGATTTGTTTCACTTAAATAGCTTGTTGTTTGTTTCTTTCATTTCTCTTAAGTTTTGGGTTGGGTTTGGTTTGTTTCCCGCAAGTTTTGCCCGTGCCGCCTTCCTCCTTGTGCCTGCAGGGACATTTGCTGGTGTGGCAGCCTCCAGGCCCGTCCCCAGCCTTTTTCTTGGCACACCTTCTCTAGGATGGCTGGGACAGTGACTTAGCTTCTACACCTGTGACTAACCATTTTCATTCCATTCTACAGCTTTGACAATTATTCTGCCAATGTTATGGTAGATGGAAAACCGGTGAATCTGGGCTTATGGGATACAGCTGGACAAGAAGATTATGACAGATTACGCCCCCTATCCTATCCGCAAACAGTAAGGATTGCAGCTGACTTTTAATGTGTCTTTTAGAGTATATAATTCTCGAGCGCTTAATTAGTGCATGTTACCTATGGACTTGCTTATATTGCCATCATTTGGGTATTGAGTAAATAGCAAACAGGGTGGGATTGGTTCCATGTAAACATCCCCCTAGATGCAAGCCCAGGGGTTTTGTGTTTTGAGCGTTACCAGCTGTTCCATTGTTGGGCATTTTACAGTCTTCCATTTAGCTTTAGAATAACCGTATGAAAGAGCTACTTTTTGTTTTTGCAAACCAGTTTTTAACACCAATTAGTTTGAAGGCAGGTTTGCTGTGTGACATTTTTGTACCACAGAATCAAATTAGGCAGTTAAGATTCAGGTTTCTTTAAACCAAGTTAGTAACTAATCTCACAGGTTTAATACATTTTTTCCCACAAAATACATAATTTGTATGGATTTTGTGAACCATACAATAGAACCTAAATTTATTCAATGTAGATTGAAGTTTTGGTTTTGTAAAATGTATCCACTGTGTCTAATCAGAAAAAAAAGTTTACTTTTGCTTCTGTATCAGACAACTAAGTGATTTATTTACCAAAGCTAATTAGAGCAGTAGCTGGTGAAAATGGGTACTTAGAAGACATTGTTGTCATTAAAAGTTACTTTTCTTTAAGCAGCGGTTTTACTTGTGTATCATTTGCTTATCTTGTTACATGTTTGTTCTTCATTTTTAAAAGTATCTTTGGAAGCAAAAGTTAAATATGCTTGAGATTCCTTGGGTTGATAACCTGTGTGCATGTCCTAGCTCTGTGACTTCAGGCAGGCTTCATCCTCTCTCCAGTCTTTGCCTGTTTCCTTGTAGGGTGAGATGAGTACGTGTCACGCACGCATAACAGTCCTGGGCACATAGCACACACTGTGGGGCCAGCCGCTGTCAGAATTCTCCTGTTCCTCAGTGTGCGGGTGGGTCGGCCTAAAGAGTGCTGCTTTCCACGTTGTGCCCAAATGAGTGGAAGTTGTGTGGTGCTCAGCACACCTGGGTTGGCCGGAGGGATTGGGGTTGGGGTTGGGTTGAGGTCAGGAAGACATCCTAGAGAAAGGCTGGCTTTGAGCCCTGATTGATGATGAGGCAGCCTGTGATTGATTCAACCAGTACTTCGTTGTAGGGGGTAATATGGGTGAAATAACTTAGTGGTTAAGTCTGCTGTATTAAAAATCAGTCTATAATCCCCAGACAATTCAAATTCTTCAGTATCTTAGGAAACTCTTCTATACCCAGTGGATGTTTAATAATTCAGATTGTAAATGGATTTAAAAACATACTGGCTGGTAGAGTAGGAGACTTCAGCCCACTGGACACATGTGGAAGGGTGTGGTGTCATTCTGAGAAACAAGAGCCACCCTGCTGTGACTCAGGGGGTACCGGGCAGGGTGAGGCCTCTCTAAGGAAGGCCTCACAGTAAGTCAAGGGTGACTTGGCAGGAGTCCCACTTTGTGTTCTGAGGAACACACAGATAAGGAAAGAGAACTCTCCTCAGCTTGAACAAAGCTGTAGAGTGTGACGCCTGGTATCAAAGTAGGTGTTGTCCTCATAGGGCTAGAACTTAAACTTCATGTTTCCTCTGTGTGAGACTGTGGACTGCTTTCCTATAAAATATTTGAGGAGCAAGGAGGGAGTGGGACATGGTTCTTGCCCTCAGGTAGTTCACAGAAAAGTCCCATAAACTGTGTAAGACACCCTGTGCTAGCAAGGGGGTGAGCCGGGCGCTTAAGGAGCAAGAGGGGCGAGCACCCACCCAGCAGTGGAAGCATTCCTGTCTGGACTCCTTCAGAGATAAGGAAATTATCTTGACAACTCAGGGGCAGGCCACAGATGCTCAGATACCAGTGTCTGGAAGGTCTCATCCCTTTGAGCCACACTGTCCTAAGAAGAACTGGATCTGGTAGTAACATGCTGGCACCTGGGTCTCTTGTTGATAAAGGGGAAACCTCTAAATTTTGTACTACATGGAATGTGGTCCCTGATTGCTGGCTCT
CCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTGTCTTCTGCCATATAGAAATTTAGCATTTAATGTAAATAATACCACCTTACCCGGGCACGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAAGCTGAGGTGGGCGCATTATGAGGTCAGGAGATCAAGACCAGCCTGATCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACCGGGCATGGTGGCGTGCACCTGTAATCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGTGAGATTCTGTCTCAAAAAAAAAATAATAATAATAATGATAATACCACCTCTCCCTCAGAATTGTATGTTGTACTTAGAAAGGCCTTTCCTACTTAAATAATGCAAAAGTATGCTCTAGTATTTTTTTCTAGGATTTTTGTGGCTAAAATTTTTATCTTTAATTCATTTAGGACTTATTTTTGGTATAGAATGAGGCAAGGACCTGATTCTTTTTCCCTTATGGGGAAAAAAAGTCACAATACTATTTATCCAATAATTTTTTTCTTATGGAAATATAATTAACATGTCCATCACCATCACACCTTTTCTTTCTTCTTCTTCTTTTTTCTTGAGACCGAGTTTCGCACTTGTTGCCCAGGCCGGAGTGCAGTGGCGCAACTTGGCCCACTGCAACCTCTGCTTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCTGTCACCACGCCCTGGCTAATTTTTGCATTTTTAGTAGACACAAAGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTCTGCTTTTTATTATATTTTTCCTTTTTTTTTTTTTCTTTTTTGCCTTCCTGTGCAGAGGAAACACTATTTTCTTCTAAAGCTTGGTTTCTGCTGACCAGTAGCAATTTTTAACATCAGTCTGATTTCCCTCTGTCAGCCTATAGGCTTTGCTGGGTTATCTCTCCTGACTAATTTGTGTAGCAACTTCACATGAATTTAAACATTTGTATCATCAGTTAACACTCACTTTGAAAATGTTATTGGGAGGCTTGTTAAGTCAGGTGTATTTTGTGTGACTGCTCTACACTCAGGCCTTCTGGAAACCCTGCAGAGGGTAGCTCTAGTGGCCAGCTAGCTCTCTTGCTGAAAATGAGCAACATAAGTACATGAAAAACCCAACAAGTAGGATTTGAAAGCGGGGCTAATTGTACCCTTATTTCTTCTGGGGATAAAAGTCTTAAACTTTGTTTAAAGTAAAATGTTTTTATTTCTGACGGTGATTTGTTTCACTTAAATAGCTTGTTGTTTGTTTCTTTCATTTCTCTTAAGTTTTGGGTTGGGTTTGGTTTGTTTCCCGCAAGTTTTGCCCGTGCCGCCTTCCTCCTTGTGCCTGCAGGGACATTTGCTGGTGTGGCAGCCTCCAGGCCCGTCCCCAGCCTTTTTCTTGGCACACCTTCTCTAGGATGGCTGGGACAGTGACTTAGCTTCTACACCTGTGACTAACCATTTTCATTCCATTCTACAGCTTTGACAATTATTCTGCCAATGTTATGGTAGATGGAAAACCGGTGAATCTGGGCTTATGGGATACAGCTGGACAAGAAGATTATGACAGATTAAGCCCCCTATCCTATCCGCAAACAGTAAGGATTGCAGCTGACTTTTAATGTGTCTTTTAGAGTATATAATTCTCGAGCGCTTAATTAGTGCATGTTACCTATGGACTTGCTTATATTGCCATCATTTGGGTATTGAGTAAATAGCAAACAGGGTGGGATTGGTTCCATGTAAACATCCCCCTAGATGCAAGCCCAGGGGTTTTGTGTTTTGAGCGTTACCAGCTGTTCCATTGTTGGGCATTTTACAGTCTTCCATTTAGCTTTAGAATAACCGTATGAAAGAGCTACTTTTTGTTTTTGCAAACCAGTTTTTAACACCAATTAGTTTGAAGGCAGGTTTGCTGTGTGACATTTTTGTACCACAGAATCAAATTAGGCAGTTAAGATTCAGGTTTCTTTAAACCAAGTTAGTAACTAATCTCACAGGTTTAATACATTTTTTCCCACAAAATACATAATTTGTATGGATTTTGTGAACCATACAATAGAACCTAAATTTATTCAATGTAGATTGAAGTTTTGGTTTTGTAAAATGTATCCACTGTGTCTAATCAGAAAAAAAAGTTTACTTTTGCTTCTGTATCAGACAACTAAGTGATTTATTTACCAAAGCTAATTAGAGCAGTAGCTGGTGAAAATGGGTACTTAGAAGACATTGTTGTCATTAAAAGTTACTTTTCTTTAAGCAGCGGTTTTACTTGTGTATCATTTGCTTATCTTGTTACATGTTTGTTCTTCATTTTTAAAAGTATCTTTGGAAGCAAAAGTTAAATATGCTTGAGATTCCTTGGGTTGATAACCTGTGTGCATGTCCTAGCTCTGTGACTTCAGGCAGGCTTCATCCTCTCTCCAGTCTTTGCCTGTTTCCTTGTAGGGTGAGATGAGTACGTGTCACGCACGCATAACAGTCCTGGGCACATAGCACACACTGTGGGGCCAGCCGCTGTCAGAATTCTCCTGTTCCTCAGTGTGCGGGTGGGTCGGCCTAAAGAGTGCTGCTTTCCACGTTGTGCCCAAATGAGTGGAAGTTGTGTGGTGCTCAGCACACCTGGGTTGGCCGGAGGGATTGGGGTTGGGGTTGGGTTGAGGTCAGGAAGACATCCTAGAGAAAGGCTGGCTTTGAGCCCTGATTGATGATGAGGCAGCCTGTGATTGATTCAACCAGTACTTCGTTGTAGGGGGTAATATGGGTGAAATAACTTAGTGGTTAAGTCTGCTGTATTAAAAATCAGTCTATAATCCCCAGACAATTCAAATTCTTCAGTATCTTAGGAAACTCTTCTATACCCAGTGGATGTTTAATAATTCAGATTGTAAATGGATTTAAAAACATACTGGCTGGTAGAGTAGGAGACTTCAGCCCACTGGACACATGTGGAAGGGTGTGGTGTCATTCTGAGAAACAAGAGCCACCCTGCTGTGACTCAGGGGGTACCGGGCAGGGTGAGGCCTCTCTAAGGAAGGCCTCACAGTAAGTCAAGGGTGACTTGGCAGGAGTCCCACTTTGTGTTCTGAGGAACACACAGATAAGGAAAGAGAACTCTCCTCAGCTTGAACAAAGCTGTAGAGTGTGACGCCTGGTATCAAAGTAGGTGTTGTCCTCATAGGGCTAGAACTTAAACTTCATGTTTCCTCTGTGTGAGACTGTGGACTGCTTTCCTATAAAATATTTGAGGAGCAAGGAGGGAGTGGGACATGGTTCTTGCCCTCAGGTAGTTCACAGAAAAGTCCCATAAACTGTGTAAGACACCCTGTGCTAGCAAGGGGGTGAGCCGGGCGCTTAAGGAGCAAGAGGGGCGAGCACCCACCCAGCAGTGGAAGCATTCCTGTCTGGACTCCTTCAGAGATAAGGAAATTATCTTGACAACTCAGGGGCAGGCCACAGATGCTCAGATACCAGTGTCTGGAAGGTCTCATCCCTTTGAGCCACACTGTCCTAAGAAGAACTGGATCTGGTAGTAACATGCTGGCACCTGGGTCTCTTGTTGATAAAGGGGAAACCTCTAAATTTTGTACTACATGGAATGTGGTCCCTGATTGCTGGCTCT
Task1_train_10985
Consider this mutation in RAC1 (Rac family small GTPase 1) on Chromosome 7. Is this a benign change or a disease-causing variant?
Pathogenic; Intellectual disability, autosomal dominant 48
CCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTGTCTTCTGCCATATAGAAATTTAGCATTTAATGTAAATAATACCACCTTACCCGGGCACGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAAGCTGAGGTGGGCGCATTATGAGGTCAGGAGATCAAGACCAGCCTGATCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACCGGGCATGGTGGCGTGCACCTGTAATCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGTGAGATTCTGTCTCAAAAAAAAAATAATAATAATAATGATAATACCACCTCTCCCTCAGAATTGTATGTTGTACTTAGAAAGGCCTTTCCTACTTAAATAATGCAAAAGTATGCTCTAGTATTTTTTTCTAGGATTTTTGTGGCTAAAATTTTTATCTTTAATTCATTTAGGACTTATTTTTGGTATAGAATGAGGCAAGGACCTGATTCTTTTTCCCTTATGGGGAAAAAAAGTCACAATACTATTTATCCAATAATTTTTTTCTTATGGAAATATAATTAACATGTCCATCACCATCACACCTTTTCTTTCTTCTTCTTCTTTTTTCTTGAGACCGAGTTTCGCACTTGTTGCCCAGGCCGGAGTGCAGTGGCGCAACTTGGCCCACTGCAACCTCTGCTTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCTGTCACCACGCCCTGGCTAATTTTTGCATTTTTAGTAGACACAAAGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTCTGCTTTTTATTATATTTTTCCTTTTTTTTTTTTTCTTTTTTGCCTTCCTGTGCAGAGGAAACACTATTTTCTTCTAAAGCTTGGTTTCTGCTGACCAGTAGCAATTTTTAACATCAGTCTGATTTCCCTCTGTCAGCCTATAGGCTTTGCTGGGTTATCTCTCCTGACTAATTTGTGTAGCAACTTCACATGAATTTAAACATTTGTATCATCAGTTAACACTCACTTTGAAAATGTTATTGGGAGGCTTGTTAAGTCAGGTGTATTTTGTGTGACTGCTCTACACTCAGGCCTTCTGGAAACCCTGCAGAGGGTAGCTCTAGTGGCCAGCTAGCTCTCTTGCTGAAAATGAGCAACATAAGTACATGAAAAACCCAACAAGTAGGATTTGAAAGCGGGGCTAATTGTACCCTTATTTCTTCTGGGGATAAAAGTCTTAAACTTTGTTTAAAGTAAAATGTTTTTATTTCTGACGGTGATTTGTTTCACTTAAATAGCTTGTTGTTTGTTTCTTTCATTTCTCTTAAGTTTTGGGTTGGGTTTGGTTTGTTTCCCGCAAGTTTTGCCCGTGCCGCCTTCCTCCTTGTGCCTGCAGGGACATTTGCTGGTGTGGCAGCCTCCAGGCCCGTCCCCAGCCTTTTTCTTGGCACACCTTCTCTAGGATGGCTGGGACAGTGACTTAGCTTCTACACCTGTGACTAACCATTTTCATTCCATTCTACAGCTTTGACAATTATTCTGCCAATGTTATGGTAGATGGAAAACCGGTGAATCTGGGCTTATGGGATACAGCTGGACAAGAAGATTATGACAGATTACGCCCCCTATCCTATCCGCAAACAGTAAGGATTGCAGCTGACTTTTAATGTGTCTTTTAGAGTATATAATTCTCGAGCGCTTAATTAGTGCATGTTACCTATGGACTTGCTTATATTGCCATCATTTGGGTATTGAGTAAATAGCAAACAGGGTGGGATTGGTTCCATGTAAACATCCCCCTAGATGCAAGCCCAGGGGTTTTGTGTTTTGAGCGTTACCAGCTGTTCCATTGTTGGGCATTTTACAGTCTTCCATTTAGCTTTAGAATAACCGTATGAAAGAGCTACTTTTTGTTTTTGCAAACCAGTTTTTAACACCAATTAGTTTGAAGGCAGGTTTGCTGTGTGACATTTTTGTACCACAGAATCAAATTAGGCAGTTAAGATTCAGGTTTCTTTAAACCAAGTTAGTAACTAATCTCACAGGTTTAATACATTTTTTCCCACAAAATACATAATTTGTATGGATTTTGTGAACCATACAATAGAACCTAAATTTATTCAATGTAGATTGAAGTTTTGGTTTTGTAAAATGTATCCACTGTGTCTAATCAGAAAAAAAAGTTTACTTTTGCTTCTGTATCAGACAACTAAGTGATTTATTTACCAAAGCTAATTAGAGCAGTAGCTGGTGAAAATGGGTACTTAGAAGACATTGTTGTCATTAAAAGTTACTTTTCTTTAAGCAGCGGTTTTACTTGTGTATCATTTGCTTATCTTGTTACATGTTTGTTCTTCATTTTTAAAAGTATCTTTGGAAGCAAAAGTTAAATATGCTTGAGATTCCTTGGGTTGATAACCTGTGTGCATGTCCTAGCTCTGTGACTTCAGGCAGGCTTCATCCTCTCTCCAGTCTTTGCCTGTTTCCTTGTAGGGTGAGATGAGTACGTGTCACGCACGCATAACAGTCCTGGGCACATAGCACACACTGTGGGGCCAGCCGCTGTCAGAATTCTCCTGTTCCTCAGTGTGCGGGTGGGTCGGCCTAAAGAGTGCTGCTTTCCACGTTGTGCCCAAATGAGTGGAAGTTGTGTGGTGCTCAGCACACCTGGGTTGGCCGGAGGGATTGGGGTTGGGGTTGGGTTGAGGTCAGGAAGACATCCTAGAGAAAGGCTGGCTTTGAGCCCTGATTGATGATGAGGCAGCCTGTGATTGATTCAACCAGTACTTCGTTGTAGGGGGTAATATGGGTGAAATAACTTAGTGGTTAAGTCTGCTGTATTAAAAATCAGTCTATAATCCCCAGACAATTCAAATTCTTCAGTATCTTAGGAAACTCTTCTATACCCAGTGGATGTTTAATAATTCAGATTGTAAATGGATTTAAAAACATACTGGCTGGTAGAGTAGGAGACTTCAGCCCACTGGACACATGTGGAAGGGTGTGGTGTCATTCTGAGAAACAAGAGCCACCCTGCTGTGACTCAGGGGGTACCGGGCAGGGTGAGGCCTCTCTAAGGAAGGCCTCACAGTAAGTCAAGGGTGACTTGGCAGGAGTCCCACTTTGTGTTCTGAGGAACACACAGATAAGGAAAGAGAACTCTCCTCAGCTTGAACAAAGCTGTAGAGTGTGACGCCTGGTATCAAAGTAGGTGTTGTCCTCATAGGGCTAGAACTTAAACTTCATGTTTCCTCTGTGTGAGACTGTGGACTGCTTTCCTATAAAATATTTGAGGAGCAAGGAGGGAGTGGGACATGGTTCTTGCCCTCAGGTAGTTCACAGAAAAGTCCCATAAACTGTGTAAGACACCCTGTGCTAGCAAGGGGGTGAGCCGGGCGCTTAAGGAGCAAGAGGGGCGAGCACCCACCCAGCAGTGGAAGCATTCCTGTCTGGACTCCTTCAGAGATAAGGAAATTATCTTGACAACTCAGGGGCAGGCCACAGATGCTCAGATACCAGTGTCTGGAAGGTCTCATCCCTTTGAGCCACACTGTCCTAAGAAGAACTGGATCTGGTAGTAACATGCTGGCACCTGGGTCTCTTGTTGATAAAGGGGAAACCTCTAAATTTTGTACTACATGGAATGTGGTCCCTGATTGCTGGCTCT
CCTTTCTTCCCTCCCTCCTCCTCTCCCTCCCTCTCTCCCTCCTTCCCTCCTCTCCTACTCCTTCCCTCCTTCCCTCCTTCCTTCTCCTTTCTTTTCCCCTCCCTCCCTTGCTCCCTCCCTCCCTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTTGCAGTATTGCCCAGGCCGGACTTGAAGTACTGGTCCTTCCACCTCAGCCTATTGAGTAGCATGCTCCACTGCACGTAGCCTGATGGAACGTTTTGTAAATAATCCTCAGTCTGTCATTTGTCTTTGTACTTCATTATGGTGTCTTCTGCCATATAGAAATTTAGCATTTAATGTAAATAATACCACCTTACCCGGGCACGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAAGCTGAGGTGGGCGCATTATGAGGTCAGGAGATCAAGACCAGCCTGATCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACCGGGCATGGTGGCGTGCACCTGTAATCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGTGAGATTCTGTCTCAAAAAAAAAATAATAATAATAATGATAATACCACCTCTCCCTCAGAATTGTATGTTGTACTTAGAAAGGCCTTTCCTACTTAAATAATGCAAAAGTATGCTCTAGTATTTTTTTCTAGGATTTTTGTGGCTAAAATTTTTATCTTTAATTCATTTAGGACTTATTTTTGGTATAGAATGAGGCAAGGACCTGATTCTTTTTCCCTTATGGGGAAAAAAAGTCACAATACTATTTATCCAATAATTTTTTTCTTATGGAAATATAATTAACATGTCCATCACCATCACACCTTTTCTTTCTTCTTCTTCTTTTTTCTTGAGACCGAGTTTCGCACTTGTTGCCCAGGCCGGAGTGCAGTGGCGCAACTTGGCCCACTGCAACCTCTGCTTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCTGTCACCACGCCCTGGCTAATTTTTGCATTTTTAGTAGACACAAAGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTCTGCTTTTTATTATATTTTTCCTTTTTTTTTTTTTCTTTTTTGCCTTCCTGTGCAGAGGAAACACTATTTTCTTCTAAAGCTTGGTTTCTGCTGACCAGTAGCAATTTTTAACATCAGTCTGATTTCCCTCTGTCAGCCTATAGGCTTTGCTGGGTTATCTCTCCTGACTAATTTGTGTAGCAACTTCACATGAATTTAAACATTTGTATCATCAGTTAACACTCACTTTGAAAATGTTATTGGGAGGCTTGTTAAGTCAGGTGTATTTTGTGTGACTGCTCTACACTCAGGCCTTCTGGAAACCCTGCAGAGGGTAGCTCTAGTGGCCAGCTAGCTCTCTTGCTGAAAATGAGCAACATAAGTACATGAAAAACCCAACAAGTAGGATTTGAAAGCGGGGCTAATTGTACCCTTATTTCTTCTGGGGATAAAAGTCTTAAACTTTGTTTAAAGTAAAATGTTTTTATTTCTGACGGTGATTTGTTTCACTTAAATAGCTTGTTGTTTGTTTCTTTCATTTCTCTTAAGTTTTGGGTTGGGTTTGGTTTGTTTCCCGCAAGTTTTGCCCGTGCCGCCTTCCTCCTTGTGCCTGCAGGGACATTTGCTGGTGTGGCAGCCTCCAGGCCCGTCCCCAGCCTTTTTCTTGGCACACCTTCTCTAGGATGGCTGGGACAGTGACTTAGCTTCTACACCTGTGACTAACCATTTTCATTCCATTCTACAGCTTTGACAATTATTCTGCCAATGTTATGGTAGATGGAAAACCGGTGAATCTGGGCTTATGGGATACAGCTGGACAAGAAGATTATGACAGATTAGGCCCCCTATCCTATCCGCAAACAGTAAGGATTGCAGCTGACTTTTAATGTGTCTTTTAGAGTATATAATTCTCGAGCGCTTAATTAGTGCATGTTACCTATGGACTTGCTTATATTGCCATCATTTGGGTATTGAGTAAATAGCAAACAGGGTGGGATTGGTTCCATGTAAACATCCCCCTAGATGCAAGCCCAGGGGTTTTGTGTTTTGAGCGTTACCAGCTGTTCCATTGTTGGGCATTTTACAGTCTTCCATTTAGCTTTAGAATAACCGTATGAAAGAGCTACTTTTTGTTTTTGCAAACCAGTTTTTAACACCAATTAGTTTGAAGGCAGGTTTGCTGTGTGACATTTTTGTACCACAGAATCAAATTAGGCAGTTAAGATTCAGGTTTCTTTAAACCAAGTTAGTAACTAATCTCACAGGTTTAATACATTTTTTCCCACAAAATACATAATTTGTATGGATTTTGTGAACCATACAATAGAACCTAAATTTATTCAATGTAGATTGAAGTTTTGGTTTTGTAAAATGTATCCACTGTGTCTAATCAGAAAAAAAAGTTTACTTTTGCTTCTGTATCAGACAACTAAGTGATTTATTTACCAAAGCTAATTAGAGCAGTAGCTGGTGAAAATGGGTACTTAGAAGACATTGTTGTCATTAAAAGTTACTTTTCTTTAAGCAGCGGTTTTACTTGTGTATCATTTGCTTATCTTGTTACATGTTTGTTCTTCATTTTTAAAAGTATCTTTGGAAGCAAAAGTTAAATATGCTTGAGATTCCTTGGGTTGATAACCTGTGTGCATGTCCTAGCTCTGTGACTTCAGGCAGGCTTCATCCTCTCTCCAGTCTTTGCCTGTTTCCTTGTAGGGTGAGATGAGTACGTGTCACGCACGCATAACAGTCCTGGGCACATAGCACACACTGTGGGGCCAGCCGCTGTCAGAATTCTCCTGTTCCTCAGTGTGCGGGTGGGTCGGCCTAAAGAGTGCTGCTTTCCACGTTGTGCCCAAATGAGTGGAAGTTGTGTGGTGCTCAGCACACCTGGGTTGGCCGGAGGGATTGGGGTTGGGGTTGGGTTGAGGTCAGGAAGACATCCTAGAGAAAGGCTGGCTTTGAGCCCTGATTGATGATGAGGCAGCCTGTGATTGATTCAACCAGTACTTCGTTGTAGGGGGTAATATGGGTGAAATAACTTAGTGGTTAAGTCTGCTGTATTAAAAATCAGTCTATAATCCCCAGACAATTCAAATTCTTCAGTATCTTAGGAAACTCTTCTATACCCAGTGGATGTTTAATAATTCAGATTGTAAATGGATTTAAAAACATACTGGCTGGTAGAGTAGGAGACTTCAGCCCACTGGACACATGTGGAAGGGTGTGGTGTCATTCTGAGAAACAAGAGCCACCCTGCTGTGACTCAGGGGGTACCGGGCAGGGTGAGGCCTCTCTAAGGAAGGCCTCACAGTAAGTCAAGGGTGACTTGGCAGGAGTCCCACTTTGTGTTCTGAGGAACACACAGATAAGGAAAGAGAACTCTCCTCAGCTTGAACAAAGCTGTAGAGTGTGACGCCTGGTATCAAAGTAGGTGTTGTCCTCATAGGGCTAGAACTTAAACTTCATGTTTCCTCTGTGTGAGACTGTGGACTGCTTTCCTATAAAATATTTGAGGAGCAAGGAGGGAGTGGGACATGGTTCTTGCCCTCAGGTAGTTCACAGAAAAGTCCCATAAACTGTGTAAGACACCCTGTGCTAGCAAGGGGGTGAGCCGGGCGCTTAAGGAGCAAGAGGGGCGAGCACCCACCCAGCAGTGGAAGCATTCCTGTCTGGACTCCTTCAGAGATAAGGAAATTATCTTGACAACTCAGGGGCAGGCCACAGATGCTCAGATACCAGTGTCTGGAAGGTCTCATCCCTTTGAGCCACACTGTCCTAAGAAGAACTGGATCTGGTAGTAACATGCTGGCACCTGGGTCTCTTGTTGATAAAGGGGAAACCTCTAAATTTTGTACTACATGGAATGTGGTCCCTGATTGCTGGCTCT
Task1_train_10986
Mutation context: Chromosome 7, Gene RAC1 (Rac family small GTPase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Intellectual disability, autosomal dominant 48
TTTTAGCAATTTGCTACTTAAGTACATGATTGGGTTTTTTTTTTTCTTTTGAGACGGAGGTCTCACTCTGTTGTGTCCAGGCTGGAGTTGTAGTGGTGACATCAGAGCTCACTGTAGCCTTGAACTCCTGGGCTCAAACAGTTCTCCTGCCCCAGCCTCCTGAGTTGCTGGGACCATAAATGTGCACCACCATGCGTGGCTAATCTTAAAAGAATTTTTGTATGGCTGGTTTTGTAGACCCTGGCTTGTCTCAAACTCCTGGGTTGAAGTGATCTTTCAGCTTCAGCCTCCCAAAGTGGTGGGATTATAGCTGTGAGCCACTGCATCTGGCCCATCAGCAGTTTATTTTATTTATTTATTTTTGAGAGAGTCTTTTTTTTTGTTTTTGTTTTTGTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGACGCAATCTTGGCTCACTGCAACTTCCGCCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAACTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAAATGTGGTTTCTCCACGTCAGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCGCGCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACCGTGCCCGGCTGAGACAGAATCTTGCACTGTCATCCAAGCTGGAGTGCAGTGGCACAATCTTGGGTCACTGCAACCTCCCCCTCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTTAGTAGCTGGGATTACAGGTGCCCGCCAACACACCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCACCATGTTTGCCAGGCTGGTCTCGAACCCCTGGCCTCAAGTGATCCACCCGCCGCAGACTCCCAGAGTGCTGGGATTTCAGGTGTGAGCCACTATGCCCGGCCTAATACGTGGATTTTTAAAGCTTCAGGTTCTGGTTCAGAAGTTTCCTGGGTCTCATTAAAATAATGAGGCACTCAGAATTGGTCTAATAAAAATAACGACCATTTCTTTCTACTCCAGTCTCTTTCACAAACTTCTTAGTGAAAATGACAAGTGAGGCCCTTCAGTAGGGGCATTTTCAGTGGAGATAATAGCGGCAGACCTGAGACCTTGGGCTAGGTAGTTTATTCTCATTTCTGAACAGATGATGAATTTTCTCAGATGACCCTAAGAAATTGTTTTACCAAAAACAAAGTGATCTATTTGCTTTGGGAGGAACTCCCTTCCTTTTGTTTCTCTTCCCTTCCCCCCTTCCCCTGCGGTTGTAGAGCCCGTTCTGTCCGGTCGTGGTTCTGTCCAGCCATGATCCGGGAGTCCTAGCTTGCTAATGGAACACCTGAGATGTTCCTTATGGCTCAAGGCTTGAATTGAAGGTGGGAACCACCTGAAGCCTCCGTGGGGAGGCCTTGCCTGAGGTTAGGTGTCTGGCATGAGTGCCGCCGGCTGGGTGTGATTTAGGTGAAGGACATCTGTAAAGGAGCGTGTCACAACCTCTGTTCCTTCTTCACATCTAGTGGTATCCTGAGGTGCGGCACCACTGTCCCAACACTCCCATCATCCTAGTGGGAACTAAACTTGATCTTAGGGATGATAAAGACACGATCGAGAAACTGAAGGAGAAGAAGCTGACTCCCATCACCTATCCGCAGGGTCTAGCCATGGCTAAGGAGATTGGTATGGAATCCTGTGTTTTTCCTCCTCCTTGTACCTCTTTTATTGTAGTGACAGAGACTGGAGTCCAGTCTGGGAAAGGAGGGTGTGTGTCTCCCACTCAGGGCCTGGTGTACTCTTGGGGAACCAGCTGGCAAGGCCCTGTGGGTCTTAACGTCAGCGTTGGAAGGTGGAAGCAGGGCTGGGAGCCGGCAGAAGGCGCCCGGGCCCCAGGAGCTGCCTCCCGCTGGTGGTGTGATCAGAAGAGAGTGGGGTCGAGTGTACATTGCCGTGTGGTCGTGTTTCCTGTAGGTGCTGTAAAATACCTGGAGTGCTCGGCGCTCACACAGCGAGGCCTCAAGACAGTGTTTGACGAAGCGATCCGAGCAGTCCTCTGCCCGCCTCCCGTGAAGAAGAGGAAGAGAAAATGCCTGCTGTTGTAAATGTCTCAGCCCCTCGTTCTTGGTCCTGTCCCTTGGAACCTTTGTACGCTTTGCTCAAAAAAAAACAAAAAAAAAAAACAAAAAAAAAAAACAACGGTGGAGCCTTCGCACTCAATGCCAACTTTTTGTTACAGATTAATTTTTCCATAAAACCATTTTTTGAACCAATCAGTAATTTTAAGGTTTTGTTTGTTCTAAATGTAAGAGTTCAGACTCACATTCTATTAAAATTTAGCCCTAAAATGACAAGCCTTCTTAAAGCCTTATTTTTCAAAAGCGCCCCCCCCATTCTTGTTCAGATTAAGAGTTGCCAAAATACCTTCTGAACTACACTGCATTGTTGTGCCGAGAACACCGAGCACTGAACTTTGCAAAGACCTTCGTCTTTGAGAAGACGGTAGCTTCTGCAGTTAGGAGGTGCAGACACTTGCTCTCCTATGTAGTTCTCAGATGCGTAAAGCAGAACAGCCTCCCGAATGAAGCGTTGCCATTGAACTCACCAGTGAGTTAGCAGCACGTGTTCCCGACATAACATTGTACTGTAATGGAGTGAGCGTAGCAGCTCAGCTCTTTGGATCAGTCTTTGTGATTTCATAGCGAGTTTTCTGACCAGCTTTTGCGGAGATTTTGAACAGAACTGCTATTTCCTCTAATGAAGAATTCTGTTTAGCTGTGGGTGTGCCGGGTGGGGTGTGTGTGATCAAAGGACAAAGACAGTATTTTGACAAAATACGAAGTGGAGATTTACACTACATTGTACAAGGAATGAAAGTGTCACGGGTAAAAACTCTAAAAGGTTAATTTCTGTCAAATGCAGTAGATGATGAAAGAAAGGTTGGTATTATCAGGAAATGTTTTCTTAAGCTTTTCCTTTCTCTTACACCTGCCATGCCTCCCCAAATTGGGCATTTAATTCATCTTTAAACTGGTTGTTCTGTTAGTCGCTAACTTAGTAAGTGCTTTTCTTATAGAACCCCTTCTGACTGAGCAATATGCCTCCTTGTATTATAAAATCTTTCTGATAATGCATTAGAAGGTTTTTTTGTCGATTAGTAAAAGTGCTTTCCATGTTACTTTATTCAGAGCTAATAAGTGCTTTCCTTAGTTTTCTAGTAACTAGGTGTAAAAATCATGTGTTGCAGCTTTATAGTTTTTAAAATATTTTAGATAATTCTTAAACTATGAACCTTCTTAACATCACTGTCTTGCCAGATTACCGACACTGTCACTTGACCAATACTGACCCTCTTTACCTCGCCCACGCGGACACACGCCTCCTGTAGTCGCTTTGCCTATTGATGTTCCTTTGGGTCTGTGAGGTTCTGTAAACTGTGCTAGTGCTGACGATGTTCTGTACAACTTAACTCACTGGCGAGAATACAGCGTGGGACCCTTCAGCCACTACAACAGAATTTTTTAAATTGACAGTTGCAGAATTGTGGAGTGTTTTTACATTGATCTTTTGCTAATGCAATTAGCATTATGTTTTGCATGTATGACTTAATAAATCCTTGAATCATACGACTGGTAATACTGGTGTTTTTGAGACTTGATGAACAAGTTCCTGGTGTGTGTTTGTTTGCCTTGCTTTAAAGTCCTGGGTTGTTGGAGACAGTCATTTTCAATGCGTGTCTCCACACAGGAGGGACAGGGAGTGCCACCTCCAGGGGAGAACTGGGTGAGCCCAAATACGGCAGGAGTGGAGGTGACATTCATGTTTGGACCTGTCGAACAGTGGCGAAGCTCTGAGGGAGAAGCGCCTATCGGGGTGTGTGTGCACATCCTGGCCCAGAGCTAGGGGCTGAAGATGGAGATGTTGGGACCCTAGACTGGCCCTGGAAGAGTAGAGGTTGGTGAACCACATGCCCTTAAGATCCTTTCCAGAGGCTGAGTGCGTGGCTTACGCCTCTAAGCCCGACGCTTTGGGAGGCTGACACAGGAGG
TTTTAGCAATTTGCTACTTAAGTACATGATTGGGTTTTTTTTTTTCTTTTGAGACGGAGGTCTCACTCTGTTGTGTCCAGGCTGGAGTTGTAGTGGTGACATCAGAGCTCACTGTAGCCTTGAACTCCTGGGCTCAAACAGTTCTCCTGCCCCAGCCTCCTGAGTTGCTGGGACCATAAATGTGCACCACCATGCGTGGCTAATCTTAAAAGAATTTTTGTATGGCTGGTTTTGTAGACCCTGGCTTGTCTCAAACTCCTGGGTTGAAGTGATCTTTCAGCTTCAGCCTCCCAAAGTGGTGGGATTATAGCTGTGAGCCACTGCATCTGGCCCATCAGCAGTTTATTTTATTTATTTATTTTTGAGAGAGTCTTTTTTTTTGTTTTTGTTTTTGTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGACGCAATCTTGGCTCACTGCAACTTCCGCCTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTCCCGAGTAACTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAAATGTGGTTTCTCCACGTCAGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCGCGCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACCGTGCCCGGCTGAGACAGAATCTTGCACTGTCATCCAAGCTGGAGTGCAGTGGCACAATCTTGGGTCACTGCAACCTCCCCCTCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTTAGTAGCTGGGATTACAGGTGCCCGCCAACACACCTGGCTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCACCATGTTTGCCAGGCTGGTCTCGAACCCCTGGCCTCAAGTGATCCACCCGCCGCAGACTCCCAGAGTGCTGGGATTTCAGGTGTGAGCCACTATGCCCGGCCTAATACGTGGATTTTTAAAGCTTCAGGTTCTGGTTCAGAAGTTTCCTGGGTCTCATTAAAATAATGAGGCACTCAGAATTGGTCTAATAAAAATAACGACCATTTCTTTCTACTCCAGTCTCTTTCACAAACTTCTTAGTGAAAATGACAAGTGAGGCCCTTCAGTAGGGGCATTTTCAGTGGAGATAATAGCGGCAGACCTGAGACCTTGGGCTAGGTAGTTTATTCTCATTTCTGAACAGATGATGAATTTTCTCAGATGACCCTAAGAAATTGTTTTACCAAAAACAAAGTGATCTATTTGCTTTGGGAGGAACTCCCTTCCTTTTGTTTCTCTTCCCTTCCCCCCTTCCCCTGCGGTTGTAGAGCCCGTTCTGTCCGGTCGTGGTTCTGTCCAGCCATGATCCGGGAGTCCTAGCTTGCTAATGGAACACCTGAGATGTTCCTTATGGCTCAAGGCTTGAATTGAAGGTGGGAACCACCTGAAGCCTCCGTGGGGAGGCCTTGCCTGAGGTTAGGTGTCTGGCATGAGTGCCGCCGGCTGGGTGTGATTTAGGTGAAGGACATCTGTAAAGGAGCGTGTCACAACCTCTGTTCCTTCTTCACATCTAGTGGTATCCTGAGGTGCGGCACCACTGTCCCAACACTCCCATCATCCTAGTGGGAACTAAACTTGATCTTAGGGATGATAAAGACACGATCGAGAAACTGAAGGAGAAGAAGCTGACTCCCATCACCTATCCGCAGGGTCTAGCCATGGCTAAGGAGATTGGTATGGAATCCTGTGTTTTTCCTCCTCCTTGTACCTCTTTTATTGTAGTGACAGAGACTGGAGTCCAGTCTGGGAAAGGAGGGTGTGTGTCTCCCACTCAGGGCCTGGTGTACTCTTGGGGAACCAGCTGGCAAGGCCCTGTGGGTCTTAACGTCAGCGTTGGAAGGTGGAAGCAGGGCTGGGAGCCGGCAGAAGGCGCCCGGGCCCCAGGAGCTGCCTCCCGCTGGTGGTGTGATCAGAAGAGAGTGGGGTCGAGTGTACATTGCCGTGTGGTCGTGTTTCCTGTAGGTGCTGTAAAATACCTGGAGTGCTCGACGCTCACACAGCGAGGCCTCAAGACAGTGTTTGACGAAGCGATCCGAGCAGTCCTCTGCCCGCCTCCCGTGAAGAAGAGGAAGAGAAAATGCCTGCTGTTGTAAATGTCTCAGCCCCTCGTTCTTGGTCCTGTCCCTTGGAACCTTTGTACGCTTTGCTCAAAAAAAAACAAAAAAAAAAAACAAAAAAAAAAAACAACGGTGGAGCCTTCGCACTCAATGCCAACTTTTTGTTACAGATTAATTTTTCCATAAAACCATTTTTTGAACCAATCAGTAATTTTAAGGTTTTGTTTGTTCTAAATGTAAGAGTTCAGACTCACATTCTATTAAAATTTAGCCCTAAAATGACAAGCCTTCTTAAAGCCTTATTTTTCAAAAGCGCCCCCCCCATTCTTGTTCAGATTAAGAGTTGCCAAAATACCTTCTGAACTACACTGCATTGTTGTGCCGAGAACACCGAGCACTGAACTTTGCAAAGACCTTCGTCTTTGAGAAGACGGTAGCTTCTGCAGTTAGGAGGTGCAGACACTTGCTCTCCTATGTAGTTCTCAGATGCGTAAAGCAGAACAGCCTCCCGAATGAAGCGTTGCCATTGAACTCACCAGTGAGTTAGCAGCACGTGTTCCCGACATAACATTGTACTGTAATGGAGTGAGCGTAGCAGCTCAGCTCTTTGGATCAGTCTTTGTGATTTCATAGCGAGTTTTCTGACCAGCTTTTGCGGAGATTTTGAACAGAACTGCTATTTCCTCTAATGAAGAATTCTGTTTAGCTGTGGGTGTGCCGGGTGGGGTGTGTGTGATCAAAGGACAAAGACAGTATTTTGACAAAATACGAAGTGGAGATTTACACTACATTGTACAAGGAATGAAAGTGTCACGGGTAAAAACTCTAAAAGGTTAATTTCTGTCAAATGCAGTAGATGATGAAAGAAAGGTTGGTATTATCAGGAAATGTTTTCTTAAGCTTTTCCTTTCTCTTACACCTGCCATGCCTCCCCAAATTGGGCATTTAATTCATCTTTAAACTGGTTGTTCTGTTAGTCGCTAACTTAGTAAGTGCTTTTCTTATAGAACCCCTTCTGACTGAGCAATATGCCTCCTTGTATTATAAAATCTTTCTGATAATGCATTAGAAGGTTTTTTTGTCGATTAGTAAAAGTGCTTTCCATGTTACTTTATTCAGAGCTAATAAGTGCTTTCCTTAGTTTTCTAGTAACTAGGTGTAAAAATCATGTGTTGCAGCTTTATAGTTTTTAAAATATTTTAGATAATTCTTAAACTATGAACCTTCTTAACATCACTGTCTTGCCAGATTACCGACACTGTCACTTGACCAATACTGACCCTCTTTACCTCGCCCACGCGGACACACGCCTCCTGTAGTCGCTTTGCCTATTGATGTTCCTTTGGGTCTGTGAGGTTCTGTAAACTGTGCTAGTGCTGACGATGTTCTGTACAACTTAACTCACTGGCGAGAATACAGCGTGGGACCCTTCAGCCACTACAACAGAATTTTTTAAATTGACAGTTGCAGAATTGTGGAGTGTTTTTACATTGATCTTTTGCTAATGCAATTAGCATTATGTTTTGCATGTATGACTTAATAAATCCTTGAATCATACGACTGGTAATACTGGTGTTTTTGAGACTTGATGAACAAGTTCCTGGTGTGTGTTTGTTTGCCTTGCTTTAAAGTCCTGGGTTGTTGGAGACAGTCATTTTCAATGCGTGTCTCCACACAGGAGGGACAGGGAGTGCCACCTCCAGGGGAGAACTGGGTGAGCCCAAATACGGCAGGAGTGGAGGTGACATTCATGTTTGGACCTGTCGAACAGTGGCGAAGCTCTGAGGGAGAAGCGCCTATCGGGGTGTGTGTGCACATCCTGGCCCAGAGCTAGGGGCTGAAGATGGAGATGTTGGGACCCTAGACTGGCCCTGGAAGAGTAGAGGTTGGTGAACCACATGCCCTTAAGATCCTTTCCAGAGGCTGAGTGCGTGGCTTACGCCTCTAAGCCCGACGCTTTGGGAGGCTGACACAGGAGG
Task1_train_10987
This mutation occurs in KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2) on Chromosome 7. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Osteogenesis imperfecta, type 21
AGCCAAGATTGTACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTAGGCGTGGTGGCTCACGCCTGTAATCCCAATACTTTGGGAGGCTGAGGTGTGCGGATCACGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCGCACCTGTAATCCCAGTTACTAGGGTGGTCAAGGCACGAGAATCACTTGAAGCTGCAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGTGTGACAGAGCAAGACTCAGTCTCAAAACAAAACAAAACAAAACAAAATTAGCCAGGCATGGTAGTGCGCGACTGTAATCTCAGCTACTCGGGAGGCTGAGACAGCAGACTCGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGAGCAAGCCACTGCATTCTAGCCTGGGTGAGAGAGACTCGGTCTCAAAAAAAACAAAAGGAAAGAGATAAGACATATATGCTCTTTTTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTCCCTAGGCTGGAGTGCAATGGCGTGATATCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGAGATTTTCCTGCCTCAGCCCCCCAAGTAGCTGGGATTACAGGCCATGTGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGACGATCCACCCATCTCGGCCTCCCAAAGTGCTGAGATTATAGGCGTGAGCCATCGCACCCGACCTATATATGCTTTTTACCTAGCAATTCCACCATTAGGAATTTTATTGTATAGCTGGATTTTTAGCCTGGGATCTGTGGTTGGGTTTCAGGGGCTCCTGAACCCCTCAAAACTATATACATGCATTTGGGTGCATTTGCGTAAATATCTTTTTTTTTTTTTTTTTTGAGAGAGAGAGTCTCGCACTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTGGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGACTACAGGCGCCCACCACCACGCCTGGCTAAGTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTCGATTACAGGCGTGAGCCACTGCACCTGGCATAAATGTTTTTTTTTTTCTGAACAAGGATGATAGCTTTCATCAAATATTTGTAAAGTTCACACGTCCTATGTTCATACAAATGCAAAAACACATATACACAAGGATGCTGATTTAATGACTGGATTTTAACAGCAAACCAGTAACGGCCTGACCACCCATGAATGGGGGCTGGGTAAATAAATTATGGTACATGCACATAATGAAACACTCTGTGGCTACTGAAAATTATGTAGATTTCTAGTGACATGAAAAATGTGAGGGGATAAAAGCAGTGTATAGAACAGCAATGTACAGTTTAAGTCATGTGTCTGTGTATGCATAGAGAGGTATCTGGTGTTAATGTTCACTGAAACACCAGATGAATCTTTTACAGTGAAAATGTGTCACTTTAGGAAAAGCTATTGCAAAAGAAAAAGGGTTCTTATATTTAAAAAGACAACATCCTGATCCAGAATGTTATTGGCCAATCATGAAAGTGTTTCTCTGGAGCCAGTTTATGAGAGAGTGCCAGATTAGAAGAGTGCTGGGCAAGGGCACTCCTAAAAGAACACGTCACTCTAGAAACAACGCAGGTCGCACCCAACATACCTTTTGTAATGTACAAGTAGAAGAAGTCACAGTATAGGATGGTCTGGACTACGCCGGCCACCACAGCAATGAGGTCAAAGAAGCCCTCAAAGTAGAAGCGCCAGATCCAGTTGACAAGATACAAAGCACGATAGAGGCCCAGGAAGAACAGGTAGTGGGTGGTGATGGTCTCGGCCTCCCCAGTCTTGCTGATCATAAATAGCTGCGGAAGGATAGCCACGGACTCCAGGTAGATGGAGAAGGTCCAGAGGATCTGGAAGAGAAATGGCAAGCTTCCATCACGACCCACTGCCCACCAGGAGCTCAGAGGAAACACTCTTGCTTTCTTTACCACAAAGCAGCCTAAGATGAGTGGGGAGTGGGGCATGTCGGCCCAAAATAGAACAACAGCTTGGCAACTGCATAACCCAGTGGTCCCAGCCTTTTTGACACCAGTGATCGGTTTCATAGAAGACAATTTTTCCACAGACCAGCAGGGTGGATGGATGGTTTCGGGATGATTCAAGCACATTGCAATCATTGTGCACTTTACTTCTGTTATTACTATAATATACAATGAAATAATTATACAACTCGTCATAATGCAGAATCAGTAGGAGCCCTGAGCTTGTTTTCCTGCAACTAGATGGTCCTATCTGGGGGTGATGGGAGACAGTGACAGATCATCAGGCATTAGATTTTCATAAGGAGCATGCAACCTAGATCCCTCAGATGCACAGTTCACAATAGGGCTCATGCTCCTATGAGAATTGAATGCTGCCAGTTATCTGACAGGAGGTGGAGCTTGGGCAGTAATGTGAGTGATGGGGAGCAGCTATAAATACAATGAAGCTTCACTTGCTCACCCACGGCTCATCTCCTCCTGGGTGGCCTGGTTCCTAACAGGCTATGAACCAGTACCAGTCAGTGGCCCAGGGGTTGAGGACTCCTGGCATAAATCACAGAAACTTAAGCAACCTTTAAGAGGCAAGGCACTGCCAGTGTGACAAGCTGGGTAACCTGGACACCTCTACCTCTTTGAATTTTCATCACCTTGTCTCTCCAGGTTTATTCTTCCCTCTTCAATTTTCTATGAATCTACATACAGAGGTTTCTCCTGGACAAGCTTGTCCTGCTCCAGATCTGGGATACCAAATCAACCCTGCTTTCCGCCAGGATTGACAATACTGATAATTGATAAGCTCCTTCCACTTCCTCACTGCTGTTTTTCCTCACTGACTGATCTTGCCAAACTACTGAAATATTTTCACTATTTTTCTTATTCCTTAAGCTTTCTGGTGTGGTTAAATCAAAGGGGTAGAAGTCACAACTGTAATTATGGAAATTCTCTGCCCAGCGTATGACTTTATTCACGATGATGATAGAAGGACTTTCAGAGGGTCCTTGAGTATTTTAAAAGTCCAGGCATGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCGAGACAGGCAGATCACCTGAGATCAGGAATTCAAGACCAGCCTGGAAAACATGGTGAAACCCGGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGTGGGTGCCTGTAATCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGTCCAGGCACTCCCAGCACCCATCAGACACCCAGGGTAGCACAGTGACTTGATCGGCCCCAGGATGTGAAGCAGCACCGTTTGCCTGTTCAGCAGGGAAAGAAGAGGCACTCAGGAGCAGATCAGCTCACTGCACAGTACTAGGGGCACCACAAACCAGCTTTCCTAAAGGCAAGAGGTGCAGAGTGCTGCTAAGCAGGGTCACAGACACGACATCAGTGCACATCTGTACATGAAAAGCAAACAAAATGTGGGCTACAGGAGGGAGACCTTGTTCTTCCCACACTGGGACAGGCAGGGCTCTGTGTTTGGTACCACTGAAGTCAAGATAATGAAATACAGTTTCAAGTTTCTATTTCAAATGAATCAGACAGTAAACTGTCAGCAGACACCTAAATATGTGGGTGCTTAATTCTCATCTACGATTTTTTTACACCAGTCATGAACATTGCACTAGAGTTTGCCA
AGCCAAGATTGTACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTAGGCGTGGTGGCTCACGCCTGTAATCCCAATACTTTGGGAGGCTGAGGTGTGCGGATCACGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCGCACCTGTAATCCCAGTTACTAGGGTGGTCAAGGCACGAGAATCACTTGAAGCTGCAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGTGTGACAGAGCAAGACTCAGTCTCAAAACAAAACAAAACAAAACAAAATTAGCCAGGCATGGTAGTGCGCGACTGTAATCTCAGCTACTCGGGAGGCTGAGACAGCAGACTCGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGAGCAAGCCACTGCATTCTAGCCTGGGTGAGAGAGACTCGGTCTCAAAAAAAACAAAAGGAAAGAGATAAGACATATATGCTCTTTTTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTCCCTAGGCTGGAGTGCAATGGCGTGATATCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGAGATTTTCCTGCCTCAGCCCCCCAAGTAGCTGGGATTACAGGCCATGTGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGACGATCCACCCATCTCGGCCTCCCAAAGTGCTGAGATTATAGGCGTGAGCCATCGCACCCGACCTATATATGCTTTTTACCTAGCAATTCCACCATTAGGAATTTTATTGTATAGCTGGATTTTTAGCCTGGGATCTGTGGTTGGGTTTCAGGGGCTCCTGAACCCCTCAAAACTATATACATGCATTTGGGTGCATTTGCGTAAATATCTTTTTTTTTTTTTTTTTTGAGAGAGAGAGTCTCGCACTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTGGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGACTACAGGCGCCCACCACCACGCCTGGCTAAGTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTCGATTACAGGCGTGAGCCACTGCACCTGGCATAAATGTTTTTTTTTTTCTGAACAAGGATGATAGCTTTCATCAAATATTTGTAAAGTTCACACGTCCTATGTTCATACAAATGCAAAAACACATATACACAAGGATGCTGATTTAATGACTGGATTTTAACAGCAAACCAGTAACGGCCTGACCACCCATGAATGGGGGCTGGGTAAATAAATTATGGTACATGCACATAATGAAACACTCTGTGGCTACTGAAAATTATGTAGATTTCTAGTGACATGAAAAATGTGAGGGGATAAAAGCAGTGTATAGAACAGCAATGTACAGTTTAAGTCATGTGTCTGTGTATGCATAGAGAGGTATCTGGTGTTAATGTTCACTGAAACACCAGATGAATCTTTTACAGTGAAAATGTGTCACTTTAGGAAAAGCTATTGCAAAAGAAAAAGGGTTCTTATATTTAAAAAGACAACATCCTGATCCAGAATGTTATTGGCCAATCATGAAAGTGTTTCTCTGGAGCCAGTTTATGAGAGAGTGCCAGATTAGAAGAGTGCTGGGCAAGGGCACTCCTAAAAGAACACGTCACTCTAGAAACAACGCAGGTCGCACCCAACATACCTTTTGTAATGTACAAGTAGAAGAAGTCACAGTATAGGATGGTCTGGACTACGCCGGCCACCACAGCAATGAGGTCAAAGAAGCCCTCAAAGTAGAAGCGCCAGATCCAGTTGACAAGACACAAAGCACGATAGAGGCCCAGGAAGAACAGGTAGTGGGTGGTGATGGTCTCGGCCTCCCCAGTCTTGCTGATCATAAATAGCTGCGGAAGGATAGCCACGGACTCCAGGTAGATGGAGAAGGTCCAGAGGATCTGGAAGAGAAATGGCAAGCTTCCATCACGACCCACTGCCCACCAGGAGCTCAGAGGAAACACTCTTGCTTTCTTTACCACAAAGCAGCCTAAGATGAGTGGGGAGTGGGGCATGTCGGCCCAAAATAGAACAACAGCTTGGCAACTGCATAACCCAGTGGTCCCAGCCTTTTTGACACCAGTGATCGGTTTCATAGAAGACAATTTTTCCACAGACCAGCAGGGTGGATGGATGGTTTCGGGATGATTCAAGCACATTGCAATCATTGTGCACTTTACTTCTGTTATTACTATAATATACAATGAAATAATTATACAACTCGTCATAATGCAGAATCAGTAGGAGCCCTGAGCTTGTTTTCCTGCAACTAGATGGTCCTATCTGGGGGTGATGGGAGACAGTGACAGATCATCAGGCATTAGATTTTCATAAGGAGCATGCAACCTAGATCCCTCAGATGCACAGTTCACAATAGGGCTCATGCTCCTATGAGAATTGAATGCTGCCAGTTATCTGACAGGAGGTGGAGCTTGGGCAGTAATGTGAGTGATGGGGAGCAGCTATAAATACAATGAAGCTTCACTTGCTCACCCACGGCTCATCTCCTCCTGGGTGGCCTGGTTCCTAACAGGCTATGAACCAGTACCAGTCAGTGGCCCAGGGGTTGAGGACTCCTGGCATAAATCACAGAAACTTAAGCAACCTTTAAGAGGCAAGGCACTGCCAGTGTGACAAGCTGGGTAACCTGGACACCTCTACCTCTTTGAATTTTCATCACCTTGTCTCTCCAGGTTTATTCTTCCCTCTTCAATTTTCTATGAATCTACATACAGAGGTTTCTCCTGGACAAGCTTGTCCTGCTCCAGATCTGGGATACCAAATCAACCCTGCTTTCCGCCAGGATTGACAATACTGATAATTGATAAGCTCCTTCCACTTCCTCACTGCTGTTTTTCCTCACTGACTGATCTTGCCAAACTACTGAAATATTTTCACTATTTTTCTTATTCCTTAAGCTTTCTGGTGTGGTTAAATCAAAGGGGTAGAAGTCACAACTGTAATTATGGAAATTCTCTGCCCAGCGTATGACTTTATTCACGATGATGATAGAAGGACTTTCAGAGGGTCCTTGAGTATTTTAAAAGTCCAGGCATGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCGAGACAGGCAGATCACCTGAGATCAGGAATTCAAGACCAGCCTGGAAAACATGGTGAAACCCGGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGTGGGTGCCTGTAATCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGTCCAGGCACTCCCAGCACCCATCAGACACCCAGGGTAGCACAGTGACTTGATCGGCCCCAGGATGTGAAGCAGCACCGTTTGCCTGTTCAGCAGGGAAAGAAGAGGCACTCAGGAGCAGATCAGCTCACTGCACAGTACTAGGGGCACCACAAACCAGCTTTCCTAAAGGCAAGAGGTGCAGAGTGCTGCTAAGCAGGGTCACAGACACGACATCAGTGCACATCTGTACATGAAAAGCAAACAAAATGTGGGCTACAGGAGGGAGACCTTGTTCTTCCCACACTGGGACAGGCAGGGCTCTGTGTTTGGTACCACTGAAGTCAAGATAATGAAATACAGTTTCAAGTTTCTATTTCAAATGAATCAGACAGTAAACTGTCAGCAGACACCTAAATATGTGGGTGCTTAATTCTCATCTACGATTTTTTTACACCAGTCATGAACATTGCACTAGAGTTTGCCA
Task1_train_10988
Chromosome 7 houses a mutation in gene KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Osteogenesis imperfecta, type 21
AAAAAAAAAAAGCTAGGCGTGGTGGCTCACGCCTGTAATCCCAATACTTTGGGAGGCTGAGGTGTGCGGATCACGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCGCACCTGTAATCCCAGTTACTAGGGTGGTCAAGGCACGAGAATCACTTGAAGCTGCAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGTGTGACAGAGCAAGACTCAGTCTCAAAACAAAACAAAACAAAACAAAATTAGCCAGGCATGGTAGTGCGCGACTGTAATCTCAGCTACTCGGGAGGCTGAGACAGCAGACTCGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGAGCAAGCCACTGCATTCTAGCCTGGGTGAGAGAGACTCGGTCTCAAAAAAAACAAAAGGAAAGAGATAAGACATATATGCTCTTTTTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTCCCTAGGCTGGAGTGCAATGGCGTGATATCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGAGATTTTCCTGCCTCAGCCCCCCAAGTAGCTGGGATTACAGGCCATGTGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGACGATCCACCCATCTCGGCCTCCCAAAGTGCTGAGATTATAGGCGTGAGCCATCGCACCCGACCTATATATGCTTTTTACCTAGCAATTCCACCATTAGGAATTTTATTGTATAGCTGGATTTTTAGCCTGGGATCTGTGGTTGGGTTTCAGGGGCTCCTGAACCCCTCAAAACTATATACATGCATTTGGGTGCATTTGCGTAAATATCTTTTTTTTTTTTTTTTTTGAGAGAGAGAGTCTCGCACTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTGGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGACTACAGGCGCCCACCACCACGCCTGGCTAAGTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTCGATTACAGGCGTGAGCCACTGCACCTGGCATAAATGTTTTTTTTTTTCTGAACAAGGATGATAGCTTTCATCAAATATTTGTAAAGTTCACACGTCCTATGTTCATACAAATGCAAAAACACATATACACAAGGATGCTGATTTAATGACTGGATTTTAACAGCAAACCAGTAACGGCCTGACCACCCATGAATGGGGGCTGGGTAAATAAATTATGGTACATGCACATAATGAAACACTCTGTGGCTACTGAAAATTATGTAGATTTCTAGTGACATGAAAAATGTGAGGGGATAAAAGCAGTGTATAGAACAGCAATGTACAGTTTAAGTCATGTGTCTGTGTATGCATAGAGAGGTATCTGGTGTTAATGTTCACTGAAACACCAGATGAATCTTTTACAGTGAAAATGTGTCACTTTAGGAAAAGCTATTGCAAAAGAAAAAGGGTTCTTATATTTAAAAAGACAACATCCTGATCCAGAATGTTATTGGCCAATCATGAAAGTGTTTCTCTGGAGCCAGTTTATGAGAGAGTGCCAGATTAGAAGAGTGCTGGGCAAGGGCACTCCTAAAAGAACACGTCACTCTAGAAACAACGCAGGTCGCACCCAACATACCTTTTGTAATGTACAAGTAGAAGAAGTCACAGTATAGGATGGTCTGGACTACGCCGGCCACCACAGCAATGAGGTCAAAGAAGCCCTCAAAGTAGAAGCGCCAGATCCAGTTGACAAGATACAAAGCACGATAGAGGCCCAGGAAGAACAGGTAGTGGGTGGTGATGGTCTCGGCCTCCCCAGTCTTGCTGATCATAAATAGCTGCGGAAGGATAGCCACGGACTCCAGGTAGATGGAGAAGGTCCAGAGGATCTGGAAGAGAAATGGCAAGCTTCCATCACGACCCACTGCCCACCAGGAGCTCAGAGGAAACACTCTTGCTTTCTTTACCACAAAGCAGCCTAAGATGAGTGGGGAGTGGGGCATGTCGGCCCAAAATAGAACAACAGCTTGGCAACTGCATAACCCAGTGGTCCCAGCCTTTTTGACACCAGTGATCGGTTTCATAGAAGACAATTTTTCCACAGACCAGCAGGGTGGATGGATGGTTTCGGGATGATTCAAGCACATTGCAATCATTGTGCACTTTACTTCTGTTATTACTATAATATACAATGAAATAATTATACAACTCGTCATAATGCAGAATCAGTAGGAGCCCTGAGCTTGTTTTCCTGCAACTAGATGGTCCTATCTGGGGGTGATGGGAGACAGTGACAGATCATCAGGCATTAGATTTTCATAAGGAGCATGCAACCTAGATCCCTCAGATGCACAGTTCACAATAGGGCTCATGCTCCTATGAGAATTGAATGCTGCCAGTTATCTGACAGGAGGTGGAGCTTGGGCAGTAATGTGAGTGATGGGGAGCAGCTATAAATACAATGAAGCTTCACTTGCTCACCCACGGCTCATCTCCTCCTGGGTGGCCTGGTTCCTAACAGGCTATGAACCAGTACCAGTCAGTGGCCCAGGGGTTGAGGACTCCTGGCATAAATCACAGAAACTTAAGCAACCTTTAAGAGGCAAGGCACTGCCAGTGTGACAAGCTGGGTAACCTGGACACCTCTACCTCTTTGAATTTTCATCACCTTGTCTCTCCAGGTTTATTCTTCCCTCTTCAATTTTCTATGAATCTACATACAGAGGTTTCTCCTGGACAAGCTTGTCCTGCTCCAGATCTGGGATACCAAATCAACCCTGCTTTCCGCCAGGATTGACAATACTGATAATTGATAAGCTCCTTCCACTTCCTCACTGCTGTTTTTCCTCACTGACTGATCTTGCCAAACTACTGAAATATTTTCACTATTTTTCTTATTCCTTAAGCTTTCTGGTGTGGTTAAATCAAAGGGGTAGAAGTCACAACTGTAATTATGGAAATTCTCTGCCCAGCGTATGACTTTATTCACGATGATGATAGAAGGACTTTCAGAGGGTCCTTGAGTATTTTAAAAGTCCAGGCATGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCGAGACAGGCAGATCACCTGAGATCAGGAATTCAAGACCAGCCTGGAAAACATGGTGAAACCCGGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGTGGGTGCCTGTAATCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGTCCAGGCACTCCCAGCACCCATCAGACACCCAGGGTAGCACAGTGACTTGATCGGCCCCAGGATGTGAAGCAGCACCGTTTGCCTGTTCAGCAGGGAAAGAAGAGGCACTCAGGAGCAGATCAGCTCACTGCACAGTACTAGGGGCACCACAAACCAGCTTTCCTAAAGGCAAGAGGTGCAGAGTGCTGCTAAGCAGGGTCACAGACACGACATCAGTGCACATCTGTACATGAAAAGCAAACAAAATGTGGGCTACAGGAGGGAGACCTTGTTCTTCCCACACTGGGACAGGCAGGGCTCTGTGTTTGGTACCACTGAAGTCAAGATAATGAAATACAGTTTCAAGTTTCTATTTCAAATGAATCAGACAGTAAACTGTCAGCAGACACCTAAATATGTGGGTGCTTAATTCTCATCTACGATTTTTTTACACCAGTCATGAACATTGCACTAGAGTTTGCCAAACCAGAAAATAAAAACAAAAAACTCCATGAAAACCTACACGATCTGCAAACATGCAAATAGGTCCATTCTAGATAACCAGACATGA
AAAAAAAAAAAGCTAGGCGTGGTGGCTCACGCCTGTAATCCCAATACTTTGGGAGGCTGAGGTGTGCGGATCACGAGGTTGGGAGTTCAAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGCGCACCTGTAATCCCAGTTACTAGGGTGGTCAAGGCACGAGAATCACTTGAAGCTGCAAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGTGTGACAGAGCAAGACTCAGTCTCAAAACAAAACAAAACAAAACAAAATTAGCCAGGCATGGTAGTGCGCGACTGTAATCTCAGCTACTCGGGAGGCTGAGACAGCAGACTCGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGAGCAAGCCACTGCATTCTAGCCTGGGTGAGAGAGACTCGGTCTCAAAAAAAACAAAAGGAAAGAGATAAGACATATATGCTCTTTTTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTCCCTAGGCTGGAGTGCAATGGCGTGATATCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGAGATTTTCCTGCCTCAGCCCCCCAAGTAGCTGGGATTACAGGCCATGTGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGTCAGGCTAGTCTTGAACTCCTGACCTCAGACGATCCACCCATCTCGGCCTCCCAAAGTGCTGAGATTATAGGCGTGAGCCATCGCACCCGACCTATATATGCTTTTTACCTAGCAATTCCACCATTAGGAATTTTATTGTATAGCTGGATTTTTAGCCTGGGATCTGTGGTTGGGTTTCAGGGGCTCCTGAACCCCTCAAAACTATATACATGCATTTGGGTGCATTTGCGTAAATATCTTTTTTTTTTTTTTTTTTGAGAGAGAGAGTCTCGCACTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTGGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAACTGGGACTACAGGCGCCCACCACCACGCCTGGCTAAGTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTCGATTACAGGCGTGAGCCACTGCACCTGGCATAAATGTTTTTTTTTTTCTGAACAAGGATGATAGCTTTCATCAAATATTTGTAAAGTTCACACGTCCTATGTTCATACAAATGCAAAAACACATATACACAAGGATGCTGATTTAATGACTGGATTTTAACAGCAAACCAGTAACGGCCTGACCACCCATGAATGGGGGCTGGGTAAATAAATTATGGTACATGCACATAATGAAACACTCTGTGGCTACTGAAAATTATGTAGATTTCTAGTGACATGAAAAATGTGAGGGGATAAAAGCAGTGTATAGAACAGCAATGTACAGTTTAAGTCATGTGTCTGTGTATGCATAGAGAGGTATCTGGTGTTAATGTTCACTGAAACACCAGATGAATCTTTTACAGTGAAAATGTGTCACTTTAGGAAAAGCTATTGCAAAAGAAAAAGGGTTCTTATATTTAAAAAGACAACATCCTGATCCAGAATGTTATTGGCCAATCATGAAAGTGTTTCTCTGGAGCCAGTTTATGAGAGAGTGCCAGATTAGAAGAGTGCTGGGCAAGGGCACTCCTAAAAGAACACGTCACTCTAGAAACAACGCAGGTCGCACCCAACATACCTTTTGTAATGTACAAGTAGAAGAAGTCACAGTATAGGATGGTCTGGACTACGCCGGCCACCACAGCAATGAGGTCAAAGAAGCCCTCAAAGTAGAAGCGCCAGATCCAGTTGACAAGATACAAAGCACGATAGAGGCCCAGGAAGAACAGGTAGTGGGTGGTGATGGTCTCGGCCTCCCCAGTCTTGCTGATCATAAATAGCTGCAGAAGGATAGCCACGGACTCCAGGTAGATGGAGAAGGTCCAGAGGATCTGGAAGAGAAATGGCAAGCTTCCATCACGACCCACTGCCCACCAGGAGCTCAGAGGAAACACTCTTGCTTTCTTTACCACAAAGCAGCCTAAGATGAGTGGGGAGTGGGGCATGTCGGCCCAAAATAGAACAACAGCTTGGCAACTGCATAACCCAGTGGTCCCAGCCTTTTTGACACCAGTGATCGGTTTCATAGAAGACAATTTTTCCACAGACCAGCAGGGTGGATGGATGGTTTCGGGATGATTCAAGCACATTGCAATCATTGTGCACTTTACTTCTGTTATTACTATAATATACAATGAAATAATTATACAACTCGTCATAATGCAGAATCAGTAGGAGCCCTGAGCTTGTTTTCCTGCAACTAGATGGTCCTATCTGGGGGTGATGGGAGACAGTGACAGATCATCAGGCATTAGATTTTCATAAGGAGCATGCAACCTAGATCCCTCAGATGCACAGTTCACAATAGGGCTCATGCTCCTATGAGAATTGAATGCTGCCAGTTATCTGACAGGAGGTGGAGCTTGGGCAGTAATGTGAGTGATGGGGAGCAGCTATAAATACAATGAAGCTTCACTTGCTCACCCACGGCTCATCTCCTCCTGGGTGGCCTGGTTCCTAACAGGCTATGAACCAGTACCAGTCAGTGGCCCAGGGGTTGAGGACTCCTGGCATAAATCACAGAAACTTAAGCAACCTTTAAGAGGCAAGGCACTGCCAGTGTGACAAGCTGGGTAACCTGGACACCTCTACCTCTTTGAATTTTCATCACCTTGTCTCTCCAGGTTTATTCTTCCCTCTTCAATTTTCTATGAATCTACATACAGAGGTTTCTCCTGGACAAGCTTGTCCTGCTCCAGATCTGGGATACCAAATCAACCCTGCTTTCCGCCAGGATTGACAATACTGATAATTGATAAGCTCCTTCCACTTCCTCACTGCTGTTTTTCCTCACTGACTGATCTTGCCAAACTACTGAAATATTTTCACTATTTTTCTTATTCCTTAAGCTTTCTGGTGTGGTTAAATCAAAGGGGTAGAAGTCACAACTGTAATTATGGAAATTCTCTGCCCAGCGTATGACTTTATTCACGATGATGATAGAAGGACTTTCAGAGGGTCCTTGAGTATTTTAAAAGTCCAGGCATGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCGAGACAGGCAGATCACCTGAGATCAGGAATTCAAGACCAGCCTGGAAAACATGGTGAAACCCGGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGATGGTGGGTGCCTGTAATCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGTCCAGGCACTCCCAGCACCCATCAGACACCCAGGGTAGCACAGTGACTTGATCGGCCCCAGGATGTGAAGCAGCACCGTTTGCCTGTTCAGCAGGGAAAGAAGAGGCACTCAGGAGCAGATCAGCTCACTGCACAGTACTAGGGGCACCACAAACCAGCTTTCCTAAAGGCAAGAGGTGCAGAGTGCTGCTAAGCAGGGTCACAGACACGACATCAGTGCACATCTGTACATGAAAAGCAAACAAAATGTGGGCTACAGGAGGGAGACCTTGTTCTTCCCACACTGGGACAGGCAGGGCTCTGTGTTTGGTACCACTGAAGTCAAGATAATGAAATACAGTTTCAAGTTTCTATTTCAAATGAATCAGACAGTAAACTGTCAGCAGACACCTAAATATGTGGGTGCTTAATTCTCATCTACGATTTTTTTACACCAGTCATGAACATTGCACTAGAGTTTGCCAAACCAGAAAATAAAAACAAAAAACTCCATGAAAACCTACACGATCTGCAAACATGCAAATAGGTCCATTCTAGATAACCAGACATGA
Task1_train_10989
A sequence alteration has been identified in KDELR2, LOC129997936 (KDEL endoplasmic reticulum protein retention receptor 2| ATAC-STARR-seq lymphoblastoid silent region 17944) on Chromosome 7. Is it disease-inducing or harmless?
Pathogenic; Osteogenesis imperfecta, type 21
ATTTATTTATTTATTTATTTATTTAGAGACGGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACCGCAATCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTACCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCATCGCGGCCGGCCCTCCTAAGGTTATTTTAATGACTACCTGGGATAAGCCATATAAAGCACTCGGCTGACTACTTGATATACAGCAAGTGCCTAAACATCACTTACCCAAACTGCAGCAGTTATTTGCTGTCACTGGAAATCATACAGTTGAACCTCTCAGAACTATGTATCAACTGAGAGATAACCTCCAAGTCAAACACACTGGCACATGGACTTTGTAACACCCATCTTAACTGTTCAAAGGTCTTTTTGGTTTTGCTTACTTCCCGGATCTCAGTTATGTTCCAAGGAGACAGGCGAGGCCTGCAGACAGCAGATTCAGAGATGTAAGTGTGACTTTAGACGCCAAAATTTTTAGAAATAAATCAGGTAAATAGAGTCTCTGCACCCAGATAATTCAGGATCATCTTTTACTGCCTCTGAAAAAATTAAGTTCTTGAGTTCAACAAAAATTATTTTGCCGAGCATCAAAAATAAGTTTAAGGGATTTTTAAGAAAGTTAAAGCCTGGGCAACATGGTGAAACCTTGTGTCTACAAAAAATAGCAAAAAAAAAAAAAAAAAAAAAAGTTAGCCAGGCATGGTGGTGCACGCATGGAGTCCCAGCTATTCAGGAGTCTGAGGCAGGAGGATTACCTGAGCCAGGGGAGGTAGAGGCTGCAGTGAGCAGTGATCACACACTGCACTCAAGCCTGGGTGACAGAGCGAGACCCTGCCTCCAAAAAAAAAAAAATAAGTTAAAAACTCTCAATTATTATACCTTTAAAATTAACGAAATGTAAAAGTCCAAAACTATTATCTGGGAAAGACTCGTTTCACTGCCGCCTAGCAGTGCCTGCATGAAATCTGTACTCTTGATCAGGGAACCAGCCAGCTCACTGGTGACGTGGAGCAACGAATTGCAGGAGCCCATAGGAGGCCTCGGCGGTCCCCGGGCGCCGCAGTTTTAAGAGAACCCATTATTAGATGGAGGCACTTAAAAACCAGATCGTTTCCCAAAGCAGCATTAATTACGCCAAGAAAATCACTGACGACCTCTCGGCAAGCCCCTCCCCAGCGGTGTGATCCTGGACCCAAGGGCTTGGGTGATGCCCACACAACACTTAAGGACAGGTCTGACCCGACCCCACTACACCACACCTAGAGCCCGGTCTTGCACGGGCAGGGTGGGGAGCCGAGTGACCTCTCCCGGCGCCCGCCCCACCTCCCGAGCTGGCTGGGCTGCCACGTCAGGCGCAGCCGGCCACGATCCTGCCCATCCTCCTCCCGCCCGTCCCATTGATTCGCGGGTTTCCTGCAACCCCGGGACCCCCACGGGAGATCCCGGCCGGAGAAGCGCCCCCATTCAAGCCCAGAGAGGGGCCACGCCTGTCGGACCCCCCGTCCCACGCCAACTTTTCAGACACAGCAGGGCCCCGCGCAGCCGGGTGCGCTCCGACAGCTCAAGTTCACGCGGGGACCGACTGCAGAGCGGGGTCCCGCGCTGCGACACCCGGCCCGGAGCCCACCCCGAGGGCCCGCAGGCCGCTGCCCCCCGGGTCCGGGCACCCGTTAGGCCGGCCGAGGGGGTGTGTCGGGCCGGCGCAGGCCCCGCGAGCCGTGGGGTGGCCGAGGTCGGCGGGTCCTCGGCGAGACCCGGCCCCCACGCCCGAGCCTCTCCGGGCCTTCCCCCGCCGCTCACCGGCGCAGGAGCGCGTCTTCCAGATCTTCAGCAGCAGGATGACGATGGCCGCCAGGTGGGACAGGTCCCCAGTCAGCCGGAAAATGTTCATGGCGGCGGCGGCGGTGGCGGTCGGCGCAGCGCGGCGGCCCCGGGGCTGGGCGGCTCAGGAGGCGGCGGCCCCTGAGAGGAAGCGGCGAAGATGGCGAGATCGCCCGCGACGTGGCCAGGGACGTGGCCGAACTGCCGGCGCGCGCGCGCGCGGGGCACCCTGGGAGAGCGGGGCCAGGCCCCGCCCCTTAAAGGGGGCGCGCCCCAGCGCAGGCTCAGCAGGTCAGCTCGCAGGGACTCCCTTGCAAGAAGACCCCGGACTCTGCCAAATTTTCCCTGCCGGGTTTCCGGCTTCTCCTCGGGTGCCAGCAGTTTCCTTTACTTTTTTGAAATAACACTCCCTGGGGATCTTTTCTTTCCTCCCACATATCAAAAGAGCTCTACAGGCCTATTGTATGAAAAAGTGTAAGAGAAGGCCGGGTGCGGTGGCTCATGCCTGAAATTCTAGCAGTTTGAGAGGCCGAAACAGGAGGATCCTTTGAGCCTAGGAGTTCGAGACCAGCCTGGGCAACCTAATGAGAGTTCCTCCACCCCCCGTCTCTACAAAAATTTTTTAAAAAATTAGCCAGGCCTGATGGTGGGTGCCTGTAGTACCAGCTATTTTAAAGGCTAAGGCAGGAGGATTGCTTGAGCCCAGGACATCGAGGCTGCGGTGAACCATGATTGTACCACTGTATTCCAGCCTGGACGACTGAGTGAGACCCTGTCTCAAACAAAACAAAACAAAACAAAACAAAAAAAAGTACAAGAGGAAAAAAATTGATTTCTGATTGCCTCACTCAAGATAAGGTCAACATTGAAGGTGGAGGTGGAAGATGCAGTTTATGTAGGGGTCTGAAGATTTTACCATTCTGGGGACTGTCTTTAAGAAAGAGAATCCAAAATTAGGTAGAAAAGTGAACGTCTGACCGGGCGCGGTGGCTCATCCCTGTAATCCCAGCACTTAAGGAGTACGAGACGGGAGGATCACGAGGTCAAGAGATCGACAGCATGCTGGCCAACGTGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCACGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGGAGAATCGCTTGAACCTGGGAGGAGAAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAGAAACTTGAATATTTCTACGGGATGGGGACGTCACAAGAAATTGCAAACAAAAAAAGCTGACAAACAGGATCTGCTACATAATTTGCGGGACGGAGTGCAAAACAAAAACGCACAGTTCGCAGTTCAAAAAGCAGGGCGGGGGCGAGGACCTGGTGCGGTGGCTCATGCCTGTAGTCCCAACACTTTCGGAGGCCGAGGAGGGAGGATCGCTTAAGCTCAGGAGTTCAAAACCAGCCTGGGCAATATGGCAAGACCCTGTCTCTGCTAAAAATACAAAAAAAAAAAAAAAAAGAAAAAAAGAAAGAAAAATAGCCAGGCATGGTGATGCGCACCTGTGCTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATTGCTTGGGCCCAGGGGCCAAAGGTTGCATTGAGCGGAGATTCCACCACTGCACTCCAGCCTAGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGCCAGCTGCCTTGGCTCACGCCTGTAATCCCGGCACTTTTGGCAGGTCAAGGCTCGCGGATCAACAGGTTAAGAGATCCAGAACAGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAGCACGGTGAAACCCCGTCTCCACTAAAAATACAAAAAAAATTAGCCGGGCGTTGTGGCGGACGCCTGTAGTCCCAGCTACTCCTAAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGACATCGT
ATTTATTTATTTATTTATTTATTTAGAGACGGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACCGCAATCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTACCGAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCATCGCGGCCGGCCCTCCTAAGGTTATTTTAATGACTACCTGGGATAAGCCATATAAAGCACTCGGCTGACTACTTGATATACAGCAAGTGCCTAAACATCACTTACCCAAACTGCAGCAGTTATTTGCTGTCACTGGAAATCATACAGTTGAACCTCTCAGAACTATGTATCAACTGAGAGATAACCTCCAAGTCAAACACACTGGCACATGGACTTTGTAACACCCATCTTAACTGTTCAAAGGTCTTTTTGGTTTTGCTTACTTCCCGGATCTCAGTTATGTTCCAAGGAGACAGGCGAGGCCTGCAGACAGCAGATTCAGAGATGTAAGTGTGACTTTAGACGCCAAAATTTTTAGAAATAAATCAGGTAAATAGAGTCTCTGCACCCAGATAATTCAGGATCATCTTTTACTGCCTCTGAAAAAATTAAGTTCTTGAGTTCAACAAAAATTATTTTGCCGAGCATCAAAAATAAGTTTAAGGGATTTTTAAGAAAGTTAAAGCCTGGGCAACATGGTGAAACCTTGTGTCTACAAAAAATAGCAAAAAAAAAAAAAAAAAAAAAAGTTAGCCAGGCATGGTGGTGCACGCATGGAGTCCCAGCTATTCAGGAGTCTGAGGCAGGAGGATTACCTGAGCCAGGGGAGGTAGAGGCTGCAGTGAGCAGTGATCACACACTGCACTCAAGCCTGGGTGACAGAGCGAGACCCTGCCTCCAAAAAAAAAAAAATAAGTTAAAAACTCTCAATTATTATACCTTTAAAATTAACGAAATGTAAAAGTCCAAAACTATTATCTGGGAAAGACTCGTTTCACTGCCGCCTAGCAGTGCCTGCATGAAATCTGTACTCTTGATCAGGGAACCAGCCAGCTCACTGGTGACGTGGAGCAACGAATTGCAGGAGCCCATAGGAGGCCTCGGCGGTCCCCGGGCGCCGCAGTTTTAAGAGAACCCATTATTAGATGGAGGCACTTAAAAACCAGATCGTTTCCCAAAGCAGCATTAATTACGCCAAGAAAATCACTGACGACCTCTCGGCAAGCCCCTCCCCAGCGGTGTGATCCTGGACCCAAGGGCTTGGGTGATGCCCACACAACACTTAAGGACAGGTCTGACCCGACCCCACTACACCACACCTAGAGCCCGGTCTTGCACGGGCAGGGTGGGGAGCCGAGTGACCTCTCCCGGCGCCCGCCCCACCTCCCGAGCTGGCTGGGCTGCCACGTCAGGCGCAGCCGGCCACGATCCTGCCCATCCTCCTCCCGCCCGTCCCATTGATTCGCGGGTTTCCTGCAACCCCGGGACCCCCACGGGAGATCCCGGCCGGAGAAGCGCCCCCATTCAAGCCCAGAGAGGGGCCACGCCTGTCGGACCCCCCGTCCCACGCCAACTTTTCAGACACAGCAGGGCCCCGCGCAGCCGGGTGCGCTCCGACAGCTCAAGTTCACGCGGGGACCGACTGCAGAGCGGGGTCCCGCGCTGCGACACCCGGCCCGGAGCCCACCCCGAGGGCCCGCAGGCCGCTGCCCCCCGGGTCCGGGCACCCGTTAGGCCGGCCGAGGGGGTGTGTCGGGCCGGCGCAGGCCCCGCGAGCCGTGGGGTGGCCGAGGTCGGCGGGTCCTCGGCGAGACCCGGCCCCCACGCCCGAGCCTCTCCGGGCCTTCCCCCGCCGCTCACCGGCGCAGGAGCGCGTCTTCCAGATCTTCAGCAGCAGGATGACGATGGCCGCCAGGTGGGACAGGTCCCCAGTCAGCCAGAAAATGTTCATGGCGGCGGCGGCGGTGGCGGTCGGCGCAGCGCGGCGGCCCCGGGGCTGGGCGGCTCAGGAGGCGGCGGCCCCTGAGAGGAAGCGGCGAAGATGGCGAGATCGCCCGCGACGTGGCCAGGGACGTGGCCGAACTGCCGGCGCGCGCGCGCGCGGGGCACCCTGGGAGAGCGGGGCCAGGCCCCGCCCCTTAAAGGGGGCGCGCCCCAGCGCAGGCTCAGCAGGTCAGCTCGCAGGGACTCCCTTGCAAGAAGACCCCGGACTCTGCCAAATTTTCCCTGCCGGGTTTCCGGCTTCTCCTCGGGTGCCAGCAGTTTCCTTTACTTTTTTGAAATAACACTCCCTGGGGATCTTTTCTTTCCTCCCACATATCAAAAGAGCTCTACAGGCCTATTGTATGAAAAAGTGTAAGAGAAGGCCGGGTGCGGTGGCTCATGCCTGAAATTCTAGCAGTTTGAGAGGCCGAAACAGGAGGATCCTTTGAGCCTAGGAGTTCGAGACCAGCCTGGGCAACCTAATGAGAGTTCCTCCACCCCCCGTCTCTACAAAAATTTTTTAAAAAATTAGCCAGGCCTGATGGTGGGTGCCTGTAGTACCAGCTATTTTAAAGGCTAAGGCAGGAGGATTGCTTGAGCCCAGGACATCGAGGCTGCGGTGAACCATGATTGTACCACTGTATTCCAGCCTGGACGACTGAGTGAGACCCTGTCTCAAACAAAACAAAACAAAACAAAACAAAAAAAAGTACAAGAGGAAAAAAATTGATTTCTGATTGCCTCACTCAAGATAAGGTCAACATTGAAGGTGGAGGTGGAAGATGCAGTTTATGTAGGGGTCTGAAGATTTTACCATTCTGGGGACTGTCTTTAAGAAAGAGAATCCAAAATTAGGTAGAAAAGTGAACGTCTGACCGGGCGCGGTGGCTCATCCCTGTAATCCCAGCACTTAAGGAGTACGAGACGGGAGGATCACGAGGTCAAGAGATCGACAGCATGCTGGCCAACGTGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCCGGGCGTGGTGGCACGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGGAGAATCGCTTGAACCTGGGAGGAGAAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAGAAACTTGAATATTTCTACGGGATGGGGACGTCACAAGAAATTGCAAACAAAAAAAGCTGACAAACAGGATCTGCTACATAATTTGCGGGACGGAGTGCAAAACAAAAACGCACAGTTCGCAGTTCAAAAAGCAGGGCGGGGGCGAGGACCTGGTGCGGTGGCTCATGCCTGTAGTCCCAACACTTTCGGAGGCCGAGGAGGGAGGATCGCTTAAGCTCAGGAGTTCAAAACCAGCCTGGGCAATATGGCAAGACCCTGTCTCTGCTAAAAATACAAAAAAAAAAAAAAAAAGAAAAAAAGAAAGAAAAATAGCCAGGCATGGTGATGCGCACCTGTGCTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATTGCTTGGGCCCAGGGGCCAAAGGTTGCATTGAGCGGAGATTCCACCACTGCACTCCAGCCTAGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGCCAGCTGCCTTGGCTCACGCCTGTAATCCCGGCACTTTTGGCAGGTCAAGGCTCGCGGATCAACAGGTTAAGAGATCCAGAACAGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAGCACGGTGAAACCCCGTCTCCACTAAAAATACAAAAAAAATTAGCCGGGCGTTGTGGCGGACGCCTGTAGTCCCAGCTACTCCTAAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGACATCGT
Task1_train_10990
Gene CRPPA (CDP-L-ribitol pyrophosphorylase A) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
ATTGTCTCTGGATGTGTCTGTGAGGGTGTTGCCAGAGGGGAGTGACATTTGAGTCGGTGGACTGGGAGAGGAAAACCCACCTTCAATGTGGGTGGGACAATTCAATTGGTTGCCAGCACAGCTAGAACGAAGCAGGCAGAAGAAGGTGGGATAAGCTGGCTTGCTAAGTCTTCTGGCTATCATCTTTCTCCTGTGCTGGATGCTTACTCCTGTTCCCTCTGCCCTTGGACATCAGACAACAGGCTCTTCAGCCTTTGAAGGCTGCACTCTCAACTTCTCTACTTTTGAGGCTTTTGGACTTGAATTGAACCACTACCAGCTTCTTTCTTCCCCAGCTTGCAGACGGCCTATTGTGGGACTTCACCTTGTAACTGTGTGAGCCAATTCTCCCTAATAAATTCTCTTTCATATACACATATATCCTATTAGTTCTGTTCCTCTGGAGAACCCTAATGCACTGCTCAGCTCCCAAATGGTCAACACTATTATGTATTTTCTGCATGCATTCCTCAAAAGGGACAAATTCCAAGTCTTCTCATCACATCTACCAGTCTATCTGCATCTTTCTTCACCTACTCTTTCCTCCTGTCCCCATGGATGAACTATCCATATTCCCAGCCAAGGTCAACTTCAATACCACTAATGCAGTAGGTCCCATCCACTCTCACTTTACCACTGTCTTCTCACTGTGGAATCACCCCCATCAGCATAACAGTGTGCTGTTTTATCATCCACCTGAAAAAAAAATCAAACTTAATCTATAACTATTCAGCTACCTCCTCCCATTTCTCTACTCAATATGTATAAAAGTTCCTCCAAAAATCAGCCCTTCTATTCTTAGATCAATTCCAACAAGATTTTCATATCCACCACTCCCATCAAACACTGGTAATCTCACATTTCAAATGTTGATGTACAGTTCTCAGTCCTCACTTTTTAGAAATCCTAGGCAACATTTAACAGAATGGCAATTAGACATCTGTGACCTTCCAGTACCATTTGAAGAGGAAAAGTTATCTATAACCTAAAACTGCACACCTCCTTTTACTTTGCCATGTTCTACGATGACCATGGATCAGCTTGTATCTGATTCAGCTCAATCAGAAAGTACTTTCTGCATTAAGTTTCTGGGATACTACCCTCTAATCCTTATGGCCACTCTTCTATCCCCTTACCTAATTCTTCCTCACCTCCTATAGCAAGTTGACTAAAGCACTAGATTAGTTGCTCAAACTTATCATCATTGGGAAGTTTCTGACAAGCTCAATATCTGATATTCAATAACTATTTACTCAATGTGCAAACAAATGACAATAAAATTATGTAAGTACAGCAGCATTTCCAAAACATGAAAACCAGAAGCAATCCAGTAATATTAAAGAAATTACTTGATTTTTAAGTTACTTACTTTTAACTAAAATTTTGATTAACAAAATGTCTAAGGAGCTGTATAGATAACTTACCATAGTACATCTGAGACTGCTGTTCTTAAAAAGACTGGCTTATAAGACAGGCCCTCAGCCAGCATCTGAGAATTAACTGACAAGGGCAAGTCAGTGTGCCTGCCTAGACTGTTGGTATCAACAATATGATTTATGCTGAACACCAACTTTCCTTCTGGAAATCTGGAATTTTTGTATGTGCCAAGCAGAGGATATCCAGATGACCAATCGAACACCCTGGGCATTGTATCTCTAACAGCCCTCCCTGGGCATAAATGTCACACACAATTTGCTGAATTTTCACTGCTGGAAGGAAGGTGTGCTTTGCATGATCCTTCAGGAGAGGGAGGGAAAAGAGCATCTAGAAGCCTGCAAACGGATCCTCAACATTCTGCCTGCATCTCTCTCTTCTGATCCAGCTCTATAACCTTAATACTTCATTGTAATAAGTCTTAGCCTTGAGTATAACTATACGCTCAGTCCCATCAGTTCTGGAAATTCTCCAAATGTGGAGGTTGTTTGGGGAACCTGACATAACAGCAGCTTATTCAAAAAGCCCAAATTCTTACCTGCTGATATGCTTCATAAATCACATCAAATAGAAAAGCTTGGGGCATTTCACTTGCTCTGTGTCTGGCACGTTCTAGCGAGTAGTCTAAGCAACCATCAGCAGATGGACTGACGACAGTAGATACAAGAGGTCGAATGGCTCCTGCTGCCTGAAGAACAAAGAGGCAAAGAATATATTTCACCTACAAGCCATTTTAAAGTGAAATTCTGAATTCAGTATCTCACTTTTGACAGATCTTATTCATACCTTCAACAAGCTACCTTAAGAAAACATCTGAGTAAGTGTGATTGGTTCAAAAATGGTTATTTCAGGTAAAAAAAATCAATTTTGTAGTATTACAGTTCCATACATTAAGGTGAAATTTTCCTTCATTATAAGTTCAAAATCCTTCTGATCACAGGCCATTGAAGTCAACACTAAAAAAAAAGATGCTAAGATCCAATTGGGTGTTCCCTAAAGATGAAGGAGGCAGAGAAAGACTATCATGAAATAATTGATATGGATTGCAAATTAATATTAGTATACCCTCAGGAGAGTTACATATTAGATACTTAAGGAAATAAACAAGTTCTCCAAGATCCCCTAGATGAGACTCAATAACCCAAACAATGTGGGTTGCTCTAATTTGTGTCTTGCTCTAATTCACAAGGAAAAACAGTTCCTGTCAAACACAGTCTCCATGCAATGCTTCCTCAGGCAATACCCATTGACTTCAATTGCTATGATGAAAGTTCTCTCAATAATAGTTGCATCTGAACTTTAGAAGAGACATTTCATGTCTGACAATTTTTCCCTTTATCTTTTTTGGAGTCCCATTGTAAGACAGTTTTGAAGGCCATTACCAGAAGAACTGCCTTAGTGAAACCGCTTTAAAATATAGTTCAATGGTGGGCAGTTAACCAAACCTTATATTTACTCCAAAACATCCTTTCTTCCACACAATTGCTACATGGGGATGATTGCAGCATATGAAATTAGTGCACAAGTAAAACAAATGTCTTCTTGATGAGACCAACATCTGAACAAGATAGATAGTCCACACATTGGTTTGCAAAAGCCAAGGGACTGGCTGAAAATCAAAGCAAATGTATGAGCCAAAGAGACGGTTTATAAATTGTGTCACACCTTCCAGTGCCTCAAGCAGAAATTTGGAACCTAGGCATAAAAACAAAAATGAGGACACAGGGTGACAAAGAGGAAGTAGTATCCAAATAGGTGAAGGGTAGGTCAACTGGTCAAGCCCAGTACCTATCAGTAGAGCTAGAAGATAAGACAGGAAGGAAATGCATGTACACACAAACATGCATGCTGCTTTAAGAAAAAAGATTCCACTGAAACTACGTATATTTTTGGAATTCTATATCAGGGCATGAAGTTAAAAAATACTTAAGAGAACATGAGACATCCAAAATGCCAATGCAAGGAGCTCTGCAGACTCCGTCCTCATTGAAACTAGTGAAAAGTATTTTAAGAACCATTAAAAGCCTCTGAAAATTGTCCTAAGGACATTCAGCAAATGAAGAAACATTTATTCCAGAAAATCTACTACATTTTGGTAAGAACAGACTCTGTAGTACTCAAGCCGTGACCCGTTTCTTCTTCTATACTCCAGCCAGCTCAGTGTAATGGATGCTCTACTCAGAGTAGGTATGGCTAAAAAGATACGGCCCCCTCACCCCAAGTTCCCAGTATGAAGGGCAGACTGCCAGCATTTCCTATGCCCCTCAGCACTATGGCACAGAGGCTAAAATCTATGCAAGTGTGGACACGAGGTTGAGGCCCACCTCTTTCACATAGTTCCCACCCATGCCCCAGAATACTGGGGCCCTGATCACTCTTTTTCCAGCTCACACATACGGCAGTTTTCATACCAGGGGAAATAAAAGACCAGAGTCTTCTACTGCCCTCATGTAGATCACAGAGTAGGGAGTTTACTCCAAAAAAAATAGTGCACTGTGCCCACCCACAGTTTTAAAGCAGTGATGTGGTGATTTTTCCTTTTTTTTTAATTTTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGAGTACATGTGCACAATGTGCAGGTTAGTTACATAC
ATTGTCTCTGGATGTGTCTGTGAGGGTGTTGCCAGAGGGGAGTGACATTTGAGTCGGTGGACTGGGAGAGGAAAACCCACCTTCAATGTGGGTGGGACAATTCAATTGGTTGCCAGCACAGCTAGAACGAAGCAGGCAGAAGAAGGTGGGATAAGCTGGCTTGCTAAGTCTTCTGGCTATCATCTTTCTCCTGTGCTGGATGCTTACTCCTGTTCCCTCTGCCCTTGGACATCAGACAACAGGCTCTTCAGCCTTTGAAGGCTGCACTCTCAACTTCTCTACTTTTGAGGCTTTTGGACTTGAATTGAACCACTACCAGCTTCTTTCTTCCCCAGCTTGCAGACGGCCTATTGTGGGACTTCACCTTGTAACTGTGTGAGCCAATTCTCCCTAATAAATTCTCTTTCATATACACATATATCCTATTAGTTCTGTTCCTCTGGAGAACCCTAATGCACTGCTCAGCTCCCAAATGGTCAACACTATTATGTATTTTCTGCATGCATTCCTCAAAAGGGACAAATTCCAAGTCTTCTCATCACATCTACCAGTCTATCTGCATCTTTCTTCACCTACTCTTTCCTCCTGTCCCCATGGATGAACTATCCATATTCCCAGCCAAGGTCAACTTCAATACCACTAATGCAGTAGGTCCCATCCACTCTCACTTTACCACTGTCTTCTCACTGTGGAATCACCCCCATCAGCATAACAGTGTGCTGTTTTATCATCCACCTGAAAAAAAAATCAAACTTAATCTATAACTATTCAGCTACCTCCTCCCATTTCTCTACTCAATATGTATAAAAGTTCCTCCAAAAATCAGCCCTTCTATTCTTAGATCAATTCCAACAAGATTTTCATATCCACCACTCCCATCAAACACTGGTAATCTCACATTTCAAATGTTGATGTACAGTTCTCAGTCCTCACTTTTTAGAAATCCTAGGCAACATTTAACAGAATGGCAATTAGACATCTGTGACCTTCCAGTACCATTTGAAGAGGAAAAGTTATCTATAACCTAAAACTGCACACCTCCTTTTACTTTGCCATGTTCTACGATGACCATGGATCAGCTTGTATCTGATTCAGCTCAATCAGAAAGTACTTTCTGCATTAAGTTTCTGGGATACTACCCTCTAATCCTTATGGCCACTCTTCTATCCCCTTACCTAATTCTTCCTCACCTCCTATAGCAAGTTGACTAAAGCACTAGATTAGTTGCTCAAACTTATCATCATTGGGAAGTTTCTGACAAGCTCAATATCTGATATTCAATAACTATTTACTCAATGTGCAAACAAATGACAATAAAATTATGTAAGTACAGCAGCATTTCCAAAACATGAAAACCAGAAGCAATCCAGTAATATTAAAGAAATTACTTGATTTTTAAGTTACTTACTTTTAACTAAAATTTTGATTAACAAAATGTCTAAGGAGCTGTATAGATAACTTACCATAGTACATCTGAGACTGCTGTTCTTAAAAAGACTGGCTTATAAGACAGGCCCTCAGCCAGCATCTGAGAATTAACTGACAAGGGCAAGTCAGTGTGCCTGCCTAGACTGTTGGTATCAACAATATGATTTATGCTGAACACCAACTTTCCTTCTGGAAATCTGGAATTTTTGTATGTGCCAAGCAGAGGATATCCAGATGACCAATCGAACACCCTGGGCATTGTATCTCTAACAGCCCTCCCTGGGCATAAATGTCACACACAATTTGCTGAATTTTCACTGCTGGAAGGAAGGTGTGCTTTGCATGATCCTTCAGGAGAGGGAGGGAAAAGAGCATCTAGAAGCCTGCAAACGGATCCTCAACATTCTGCCTGCATCTCTCTCTTCTGATCCAGCTCTATAACCTTAATACTTCATTGTAATAAGTCTTAGCCTTGAGTATAACTATACGCTCAGTCCCATCAGTTCTGGAAATTCTCCAAATGTGGAGGTTGTTTGGGGAACCTGACATAACAGCAGCTTATTCAAAAAGCCCAAATTCTTACCTGCTGATATGCTTCATAAATCACATCAAATAGAAAATCTTGGGGCATTTCACTTGCTCTGTGTCTGGCACGTTCTAGCGAGTAGTCTAAGCAACCATCAGCAGATGGACTGACGACAGTAGATACAAGAGGTCGAATGGCTCCTGCTGCCTGAAGAACAAAGAGGCAAAGAATATATTTCACCTACAAGCCATTTTAAAGTGAAATTCTGAATTCAGTATCTCACTTTTGACAGATCTTATTCATACCTTCAACAAGCTACCTTAAGAAAACATCTGAGTAAGTGTGATTGGTTCAAAAATGGTTATTTCAGGTAAAAAAAATCAATTTTGTAGTATTACAGTTCCATACATTAAGGTGAAATTTTCCTTCATTATAAGTTCAAAATCCTTCTGATCACAGGCCATTGAAGTCAACACTAAAAAAAAAGATGCTAAGATCCAATTGGGTGTTCCCTAAAGATGAAGGAGGCAGAGAAAGACTATCATGAAATAATTGATATGGATTGCAAATTAATATTAGTATACCCTCAGGAGAGTTACATATTAGATACTTAAGGAAATAAACAAGTTCTCCAAGATCCCCTAGATGAGACTCAATAACCCAAACAATGTGGGTTGCTCTAATTTGTGTCTTGCTCTAATTCACAAGGAAAAACAGTTCCTGTCAAACACAGTCTCCATGCAATGCTTCCTCAGGCAATACCCATTGACTTCAATTGCTATGATGAAAGTTCTCTCAATAATAGTTGCATCTGAACTTTAGAAGAGACATTTCATGTCTGACAATTTTTCCCTTTATCTTTTTTGGAGTCCCATTGTAAGACAGTTTTGAAGGCCATTACCAGAAGAACTGCCTTAGTGAAACCGCTTTAAAATATAGTTCAATGGTGGGCAGTTAACCAAACCTTATATTTACTCCAAAACATCCTTTCTTCCACACAATTGCTACATGGGGATGATTGCAGCATATGAAATTAGTGCACAAGTAAAACAAATGTCTTCTTGATGAGACCAACATCTGAACAAGATAGATAGTCCACACATTGGTTTGCAAAAGCCAAGGGACTGGCTGAAAATCAAAGCAAATGTATGAGCCAAAGAGACGGTTTATAAATTGTGTCACACCTTCCAGTGCCTCAAGCAGAAATTTGGAACCTAGGCATAAAAACAAAAATGAGGACACAGGGTGACAAAGAGGAAGTAGTATCCAAATAGGTGAAGGGTAGGTCAACTGGTCAAGCCCAGTACCTATCAGTAGAGCTAGAAGATAAGACAGGAAGGAAATGCATGTACACACAAACATGCATGCTGCTTTAAGAAAAAAGATTCCACTGAAACTACGTATATTTTTGGAATTCTATATCAGGGCATGAAGTTAAAAAATACTTAAGAGAACATGAGACATCCAAAATGCCAATGCAAGGAGCTCTGCAGACTCCGTCCTCATTGAAACTAGTGAAAAGTATTTTAAGAACCATTAAAAGCCTCTGAAAATTGTCCTAAGGACATTCAGCAAATGAAGAAACATTTATTCCAGAAAATCTACTACATTTTGGTAAGAACAGACTCTGTAGTACTCAAGCCGTGACCCGTTTCTTCTTCTATACTCCAGCCAGCTCAGTGTAATGGATGCTCTACTCAGAGTAGGTATGGCTAAAAAGATACGGCCCCCTCACCCCAAGTTCCCAGTATGAAGGGCAGACTGCCAGCATTTCCTATGCCCCTCAGCACTATGGCACAGAGGCTAAAATCTATGCAAGTGTGGACACGAGGTTGAGGCCCACCTCTTTCACATAGTTCCCACCCATGCCCCAGAATACTGGGGCCCTGATCACTCTTTTTCCAGCTCACACATACGGCAGTTTTCATACCAGGGGAAATAAAAGACCAGAGTCTTCTACTGCCCTCATGTAGATCACAGAGTAGGGAGTTTACTCCAAAAAAAATAGTGCACTGTGCCCACCCACAGTTTTAAAGCAGTGATGTGGTGATTTTTCCTTTTTTTTTAATTTTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGAGTACATGTGCACAATGTGCAGGTTAGTTACATAC
Task1_train_10991
Assess the clinical impact of this variant on gene CRPPA (CDP-L-ribitol pyrophosphorylase A), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
GGATGTGTCTGTGAGGGTGTTGCCAGAGGGGAGTGACATTTGAGTCGGTGGACTGGGAGAGGAAAACCCACCTTCAATGTGGGTGGGACAATTCAATTGGTTGCCAGCACAGCTAGAACGAAGCAGGCAGAAGAAGGTGGGATAAGCTGGCTTGCTAAGTCTTCTGGCTATCATCTTTCTCCTGTGCTGGATGCTTACTCCTGTTCCCTCTGCCCTTGGACATCAGACAACAGGCTCTTCAGCCTTTGAAGGCTGCACTCTCAACTTCTCTACTTTTGAGGCTTTTGGACTTGAATTGAACCACTACCAGCTTCTTTCTTCCCCAGCTTGCAGACGGCCTATTGTGGGACTTCACCTTGTAACTGTGTGAGCCAATTCTCCCTAATAAATTCTCTTTCATATACACATATATCCTATTAGTTCTGTTCCTCTGGAGAACCCTAATGCACTGCTCAGCTCCCAAATGGTCAACACTATTATGTATTTTCTGCATGCATTCCTCAAAAGGGACAAATTCCAAGTCTTCTCATCACATCTACCAGTCTATCTGCATCTTTCTTCACCTACTCTTTCCTCCTGTCCCCATGGATGAACTATCCATATTCCCAGCCAAGGTCAACTTCAATACCACTAATGCAGTAGGTCCCATCCACTCTCACTTTACCACTGTCTTCTCACTGTGGAATCACCCCCATCAGCATAACAGTGTGCTGTTTTATCATCCACCTGAAAAAAAAATCAAACTTAATCTATAACTATTCAGCTACCTCCTCCCATTTCTCTACTCAATATGTATAAAAGTTCCTCCAAAAATCAGCCCTTCTATTCTTAGATCAATTCCAACAAGATTTTCATATCCACCACTCCCATCAAACACTGGTAATCTCACATTTCAAATGTTGATGTACAGTTCTCAGTCCTCACTTTTTAGAAATCCTAGGCAACATTTAACAGAATGGCAATTAGACATCTGTGACCTTCCAGTACCATTTGAAGAGGAAAAGTTATCTATAACCTAAAACTGCACACCTCCTTTTACTTTGCCATGTTCTACGATGACCATGGATCAGCTTGTATCTGATTCAGCTCAATCAGAAAGTACTTTCTGCATTAAGTTTCTGGGATACTACCCTCTAATCCTTATGGCCACTCTTCTATCCCCTTACCTAATTCTTCCTCACCTCCTATAGCAAGTTGACTAAAGCACTAGATTAGTTGCTCAAACTTATCATCATTGGGAAGTTTCTGACAAGCTCAATATCTGATATTCAATAACTATTTACTCAATGTGCAAACAAATGACAATAAAATTATGTAAGTACAGCAGCATTTCCAAAACATGAAAACCAGAAGCAATCCAGTAATATTAAAGAAATTACTTGATTTTTAAGTTACTTACTTTTAACTAAAATTTTGATTAACAAAATGTCTAAGGAGCTGTATAGATAACTTACCATAGTACATCTGAGACTGCTGTTCTTAAAAAGACTGGCTTATAAGACAGGCCCTCAGCCAGCATCTGAGAATTAACTGACAAGGGCAAGTCAGTGTGCCTGCCTAGACTGTTGGTATCAACAATATGATTTATGCTGAACACCAACTTTCCTTCTGGAAATCTGGAATTTTTGTATGTGCCAAGCAGAGGATATCCAGATGACCAATCGAACACCCTGGGCATTGTATCTCTAACAGCCCTCCCTGGGCATAAATGTCACACACAATTTGCTGAATTTTCACTGCTGGAAGGAAGGTGTGCTTTGCATGATCCTTCAGGAGAGGGAGGGAAAAGAGCATCTAGAAGCCTGCAAACGGATCCTCAACATTCTGCCTGCATCTCTCTCTTCTGATCCAGCTCTATAACCTTAATACTTCATTGTAATAAGTCTTAGCCTTGAGTATAACTATACGCTCAGTCCCATCAGTTCTGGAAATTCTCCAAATGTGGAGGTTGTTTGGGGAACCTGACATAACAGCAGCTTATTCAAAAAGCCCAAATTCTTACCTGCTGATATGCTTCATAAATCACATCAAATAGAAAAGCTTGGGGCATTTCACTTGCTCTGTGTCTGGCACGTTCTAGCGAGTAGTCTAAGCAACCATCAGCAGATGGACTGACGACAGTAGATACAAGAGGTCGAATGGCTCCTGCTGCCTGAAGAACAAAGAGGCAAAGAATATATTTCACCTACAAGCCATTTTAAAGTGAAATTCTGAATTCAGTATCTCACTTTTGACAGATCTTATTCATACCTTCAACAAGCTACCTTAAGAAAACATCTGAGTAAGTGTGATTGGTTCAAAAATGGTTATTTCAGGTAAAAAAAATCAATTTTGTAGTATTACAGTTCCATACATTAAGGTGAAATTTTCCTTCATTATAAGTTCAAAATCCTTCTGATCACAGGCCATTGAAGTCAACACTAAAAAAAAAGATGCTAAGATCCAATTGGGTGTTCCCTAAAGATGAAGGAGGCAGAGAAAGACTATCATGAAATAATTGATATGGATTGCAAATTAATATTAGTATACCCTCAGGAGAGTTACATATTAGATACTTAAGGAAATAAACAAGTTCTCCAAGATCCCCTAGATGAGACTCAATAACCCAAACAATGTGGGTTGCTCTAATTTGTGTCTTGCTCTAATTCACAAGGAAAAACAGTTCCTGTCAAACACAGTCTCCATGCAATGCTTCCTCAGGCAATACCCATTGACTTCAATTGCTATGATGAAAGTTCTCTCAATAATAGTTGCATCTGAACTTTAGAAGAGACATTTCATGTCTGACAATTTTTCCCTTTATCTTTTTTGGAGTCCCATTGTAAGACAGTTTTGAAGGCCATTACCAGAAGAACTGCCTTAGTGAAACCGCTTTAAAATATAGTTCAATGGTGGGCAGTTAACCAAACCTTATATTTACTCCAAAACATCCTTTCTTCCACACAATTGCTACATGGGGATGATTGCAGCATATGAAATTAGTGCACAAGTAAAACAAATGTCTTCTTGATGAGACCAACATCTGAACAAGATAGATAGTCCACACATTGGTTTGCAAAAGCCAAGGGACTGGCTGAAAATCAAAGCAAATGTATGAGCCAAAGAGACGGTTTATAAATTGTGTCACACCTTCCAGTGCCTCAAGCAGAAATTTGGAACCTAGGCATAAAAACAAAAATGAGGACACAGGGTGACAAAGAGGAAGTAGTATCCAAATAGGTGAAGGGTAGGTCAACTGGTCAAGCCCAGTACCTATCAGTAGAGCTAGAAGATAAGACAGGAAGGAAATGCATGTACACACAAACATGCATGCTGCTTTAAGAAAAAAGATTCCACTGAAACTACGTATATTTTTGGAATTCTATATCAGGGCATGAAGTTAAAAAATACTTAAGAGAACATGAGACATCCAAAATGCCAATGCAAGGAGCTCTGCAGACTCCGTCCTCATTGAAACTAGTGAAAAGTATTTTAAGAACCATTAAAAGCCTCTGAAAATTGTCCTAAGGACATTCAGCAAATGAAGAAACATTTATTCCAGAAAATCTACTACATTTTGGTAAGAACAGACTCTGTAGTACTCAAGCCGTGACCCGTTTCTTCTTCTATACTCCAGCCAGCTCAGTGTAATGGATGCTCTACTCAGAGTAGGTATGGCTAAAAAGATACGGCCCCCTCACCCCAAGTTCCCAGTATGAAGGGCAGACTGCCAGCATTTCCTATGCCCCTCAGCACTATGGCACAGAGGCTAAAATCTATGCAAGTGTGGACACGAGGTTGAGGCCCACCTCTTTCACATAGTTCCCACCCATGCCCCAGAATACTGGGGCCCTGATCACTCTTTTTCCAGCTCACACATACGGCAGTTTTCATACCAGGGGAAATAAAAGACCAGAGTCTTCTACTGCCCTCATGTAGATCACAGAGTAGGGAGTTTACTCCAAAAAAAATAGTGCACTGTGCCCACCCACAGTTTTAAAGCAGTGATGTGGTGATTTTTCCTTTTTTTTTAATTTTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGAGTACATGTGCACAATGTGCAGGTTAGTTACATACGTATACATG
GGATGTGTCTGTGAGGGTGTTGCCAGAGGGGAGTGACATTTGAGTCGGTGGACTGGGAGAGGAAAACCCACCTTCAATGTGGGTGGGACAATTCAATTGGTTGCCAGCACAGCTAGAACGAAGCAGGCAGAAGAAGGTGGGATAAGCTGGCTTGCTAAGTCTTCTGGCTATCATCTTTCTCCTGTGCTGGATGCTTACTCCTGTTCCCTCTGCCCTTGGACATCAGACAACAGGCTCTTCAGCCTTTGAAGGCTGCACTCTCAACTTCTCTACTTTTGAGGCTTTTGGACTTGAATTGAACCACTACCAGCTTCTTTCTTCCCCAGCTTGCAGACGGCCTATTGTGGGACTTCACCTTGTAACTGTGTGAGCCAATTCTCCCTAATAAATTCTCTTTCATATACACATATATCCTATTAGTTCTGTTCCTCTGGAGAACCCTAATGCACTGCTCAGCTCCCAAATGGTCAACACTATTATGTATTTTCTGCATGCATTCCTCAAAAGGGACAAATTCCAAGTCTTCTCATCACATCTACCAGTCTATCTGCATCTTTCTTCACCTACTCTTTCCTCCTGTCCCCATGGATGAACTATCCATATTCCCAGCCAAGGTCAACTTCAATACCACTAATGCAGTAGGTCCCATCCACTCTCACTTTACCACTGTCTTCTCACTGTGGAATCACCCCCATCAGCATAACAGTGTGCTGTTTTATCATCCACCTGAAAAAAAAATCAAACTTAATCTATAACTATTCAGCTACCTCCTCCCATTTCTCTACTCAATATGTATAAAAGTTCCTCCAAAAATCAGCCCTTCTATTCTTAGATCAATTCCAACAAGATTTTCATATCCACCACTCCCATCAAACACTGGTAATCTCACATTTCAAATGTTGATGTACAGTTCTCAGTCCTCACTTTTTAGAAATCCTAGGCAACATTTAACAGAATGGCAATTAGACATCTGTGACCTTCCAGTACCATTTGAAGAGGAAAAGTTATCTATAACCTAAAACTGCACACCTCCTTTTACTTTGCCATGTTCTACGATGACCATGGATCAGCTTGTATCTGATTCAGCTCAATCAGAAAGTACTTTCTGCATTAAGTTTCTGGGATACTACCCTCTAATCCTTATGGCCACTCTTCTATCCCCTTACCTAATTCTTCCTCACCTCCTATAGCAAGTTGACTAAAGCACTAGATTAGTTGCTCAAACTTATCATCATTGGGAAGTTTCTGACAAGCTCAATATCTGATATTCAATAACTATTTACTCAATGTGCAAACAAATGACAATAAAATTATGTAAGTACAGCAGCATTTCCAAAACATGAAAACCAGAAGCAATCCAGTAATATTAAAGAAATTACTTGATTTTTAAGTTACTTACTTTTAACTAAAATTTTGATTAACAAAATGTCTAAGGAGCTGTATAGATAACTTACCATAGTACATCTGAGACTGCTGTTCTTAAAAAGACTGGCTTATAAGACAGGCCCTCAGCCAGCATCTGAGAATTAACTGACAAGGGCAAGTCAGTGTGCCTGCCTAGACTGTTGGTATCAACAATATGATTTATGCTGAACACCAACTTTCCTTCTGGAAATCTGGAATTTTTGTATGTGCCAAGCAGAGGATATCCAGATGACCAATCGAACACCCTGGGCATTGTATCTCTAACAGCCCTCCCTGGGCATAAATGTCACACACAATTTGCTGAATTTTCACTGCTGGAAGGAAGGTGTGCTTTGCATGATCCTTCAGGAGAGGGAGGGAAAAGAGCATCTAGAAGCCTGCAAACGGATCCTCAACATTCTGCCTGCATCTCTCTCTTCTGATCCAGCTCTATAACCTTAATACTTCATTGTAATAAGTCTTAGCCTTGAGTATAACTATACGCTCAGTCCCATCAGTTCTGGAAATTCTCCAAATGTGGAGGTTGTTTGGGGAACCTGACATAACAGCAGCTTATTCAAAAAGCCCAAATTCTTACCTGCTGATATGCTTCATAAATCACATCAAATAGAAAAGCTTGGGGCCTTTCACTTGCTCTGTGTCTGGCACGTTCTAGCGAGTAGTCTAAGCAACCATCAGCAGATGGACTGACGACAGTAGATACAAGAGGTCGAATGGCTCCTGCTGCCTGAAGAACAAAGAGGCAAAGAATATATTTCACCTACAAGCCATTTTAAAGTGAAATTCTGAATTCAGTATCTCACTTTTGACAGATCTTATTCATACCTTCAACAAGCTACCTTAAGAAAACATCTGAGTAAGTGTGATTGGTTCAAAAATGGTTATTTCAGGTAAAAAAAATCAATTTTGTAGTATTACAGTTCCATACATTAAGGTGAAATTTTCCTTCATTATAAGTTCAAAATCCTTCTGATCACAGGCCATTGAAGTCAACACTAAAAAAAAAGATGCTAAGATCCAATTGGGTGTTCCCTAAAGATGAAGGAGGCAGAGAAAGACTATCATGAAATAATTGATATGGATTGCAAATTAATATTAGTATACCCTCAGGAGAGTTACATATTAGATACTTAAGGAAATAAACAAGTTCTCCAAGATCCCCTAGATGAGACTCAATAACCCAAACAATGTGGGTTGCTCTAATTTGTGTCTTGCTCTAATTCACAAGGAAAAACAGTTCCTGTCAAACACAGTCTCCATGCAATGCTTCCTCAGGCAATACCCATTGACTTCAATTGCTATGATGAAAGTTCTCTCAATAATAGTTGCATCTGAACTTTAGAAGAGACATTTCATGTCTGACAATTTTTCCCTTTATCTTTTTTGGAGTCCCATTGTAAGACAGTTTTGAAGGCCATTACCAGAAGAACTGCCTTAGTGAAACCGCTTTAAAATATAGTTCAATGGTGGGCAGTTAACCAAACCTTATATTTACTCCAAAACATCCTTTCTTCCACACAATTGCTACATGGGGATGATTGCAGCATATGAAATTAGTGCACAAGTAAAACAAATGTCTTCTTGATGAGACCAACATCTGAACAAGATAGATAGTCCACACATTGGTTTGCAAAAGCCAAGGGACTGGCTGAAAATCAAAGCAAATGTATGAGCCAAAGAGACGGTTTATAAATTGTGTCACACCTTCCAGTGCCTCAAGCAGAAATTTGGAACCTAGGCATAAAAACAAAAATGAGGACACAGGGTGACAAAGAGGAAGTAGTATCCAAATAGGTGAAGGGTAGGTCAACTGGTCAAGCCCAGTACCTATCAGTAGAGCTAGAAGATAAGACAGGAAGGAAATGCATGTACACACAAACATGCATGCTGCTTTAAGAAAAAAGATTCCACTGAAACTACGTATATTTTTGGAATTCTATATCAGGGCATGAAGTTAAAAAATACTTAAGAGAACATGAGACATCCAAAATGCCAATGCAAGGAGCTCTGCAGACTCCGTCCTCATTGAAACTAGTGAAAAGTATTTTAAGAACCATTAAAAGCCTCTGAAAATTGTCCTAAGGACATTCAGCAAATGAAGAAACATTTATTCCAGAAAATCTACTACATTTTGGTAAGAACAGACTCTGTAGTACTCAAGCCGTGACCCGTTTCTTCTTCTATACTCCAGCCAGCTCAGTGTAATGGATGCTCTACTCAGAGTAGGTATGGCTAAAAAGATACGGCCCCCTCACCCCAAGTTCCCAGTATGAAGGGCAGACTGCCAGCATTTCCTATGCCCCTCAGCACTATGGCACAGAGGCTAAAATCTATGCAAGTGTGGACACGAGGTTGAGGCCCACCTCTTTCACATAGTTCCCACCCATGCCCCAGAATACTGGGGCCCTGATCACTCTTTTTCCAGCTCACACATACGGCAGTTTTCATACCAGGGGAAATAAAAGACCAGAGTCTTCTACTGCCCTCATGTAGATCACAGAGTAGGGAGTTTACTCCAAAAAAAATAGTGCACTGTGCCCACCCACAGTTTTAAAGCAGTGATGTGGTGATTTTTCCTTTTTTTTTAATTTTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGAGTACATGTGCACAATGTGCAGGTTAGTTACATACGTATACATG
Task1_train_10992
Chromosome 7 houses a mutation in gene CRPPA (CDP-L-ribitol pyrophosphorylase A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
ATTAATAAACTTGAAAAAATTCTTAAACATGGATGTATATAAAACTCATGATTTTACCCTTTATGTTTTAACACCAACAAAAACAAGGCAATATTTCTAAAAGAAACTGTATTTCTGAGGTTTCCTTAAACAAGTTGTAAAGTTTTGTTCTGAACCAGCTTCTTAATCTAATCAGAAAATTACAGATTTCACTGAAATATACTTTGTTTCATTTAAGATGCATTATGTGATTAAATCTTACAAATTATATTCTAAGAAACAATCTAATAGGAACTCCCTCAAATCTGCAAAAAGTAACTGCTATGTATTTTAATATGTTCTATTAAATCACATGTAAGACAATGATATACTTAGCATATTAATTGGAGCAAGATAAAAGACTTCTTTTGCCTTTTACAACATACTCTCAGAAGACTCACTTTATGGACAATATCTCAGAAATACTTTCTGCTTATTACTCAACAACAACAAAAAAAATTGCAAATGTGTGCAATTGTTATAGTGAGCTTAAGTGAATTTTCCAAAAGGTAACACAGGCAAAAAAAAAAAAAAAATTGTGTATAATATGCGTTGCAATGAATGCCCATCTACCAAATTGTATTGTCATCCCTAAGAACTCTTCCAAATGTGCAAAATTTACTCAAATTCTTAAGTTGTAAATCCTCTGCTTCTTTATGCCTTCTCACCACCCTTGCAACTGATTACCTTGCCTCTACCACAATTGAGCTGTCTGGAGAAGAGGAAGGAGTCAAGGGGGAAGCACAAGATCCAGGGGAAAGTTTTGTGGTCATTAATGGTTCCTGGACCACAAGTTTCACTACCTTAAATACCATTTATCCTTTTGTTTAAAGGCAAATCAAAATATTTCATTTGGTCTATGAAATTCTTACACAGTTTTAAATTTAAAGTGAAATTCATGTTGCAGAAGGAAGAGATGAAGTTAGGGAAAATTTCCTACGGCAATTCAAATACACATGGGTTATTGAAGTTATAGACTGTCTTTCCTAAATAGGTTTTAAAGGGGAAAAAAAAAAAAGCTTCTGGGCACCCAGATGGCTAGGAAGGCTTGCTTCCTGTTGGCCTATAATCTTAGAGGAAACTATTACATAGATGTTATAATTCATCTTAAAATAATACCCTTTAAGCACTTATTATTAATACCCTTTAAGCACTTAGTATTCTAATAGCTAACATAATTTCCAATCCTAAAATGACCTTACAAGTATTATTTTTTATATTTTCACAGGTAGGGAAAATGGACTCAGAAAGTTAAAAACACGACATCACTAGTAAATAAAAAGACAGATTTGGACCTAGGTCTGTCCAACTTCATAGCCTATTTCTATTATATAATACCATCGCTTGGCAATAAATTTCACTAAGTCTCCAATTTAGACTGCAAAAAAGTTTAGTATCTATTACCATATTTATATAATTTTACTTGGTAATAGAAGGAAAAAAATAAACATGCTCCAAAGATTACAATAGGTCTTTTGCTATCCTGTGTTTATTTTGGTGAAGCAAATGGAAACAATTGTCATCTCAAGATGATTTACTTTAAGGTCTATGAAAATCTTATATAGTATATACTAGAAAACAAACCACTTCGAAACTAACACAAAATTGAGTACAATGGACCATATTATACATATCCTTTACTTCTGAGAGATTTCTCTGGCATTTTTAATATAACTGCCTTTTAATTTTCATTAAAGTTTCATTTATATCTATACTGTAATAACATTAATACATTCTTCTCCAAATACCTCATATCACATTATGGTAGATGACTATAGCAAAAGATATGTTCCAGAACAGTCTCAATCTATAAAGTTACTACAACAAATCACCATAACATCTTTAGGTCATCATGCACATTTTAAATAATTTGACATTTAAACAGAATTGAATCAAAATTCAGCAAATGAACCACACTACAGTGCTTGTCCCTTCTATCTAGACTCAAGAAAAAAGACTTACCCCGTGTTCCTTAGCAGCTGTGACAACTTTAAGAAGGACACCTTCCTCAACAAATGGTCTCACAGCATCATGGATAATCACTACTTCTGGCTTAGAGAGTTTAGAGTTGATCTGATCTTCTGCCAGTGCTTTTAGTCCATTGAAAATTGACCTGTGGCGGGTCACTCCAGCTTCGACCAGTGAGATGCGTTTATGCTGATACTTCTGAATAATACTTTTCATTACTTCCATGTTCTCTCCAGTTACTGCCACAACAATGTCCTTTATCCAACATACTCTAAAAGGAAAGTATATGTACAATTCGTAAATTAATTCTTAGACAACTAAAGTGAGTAACAGAAAATTGAATCACTAGTATTGGTATATTTAAATAGGGAGATTAAAAACTGCAAGTTAATAAAACAGTTTTATGCATTCTCGTTAGGTCCAGTAAAGAGGCTGATGAAAAAGAATCAGTGAGCATTTAACACTATAGCTCTAGATAGTGTTTCATATTACATAGAATATCTTACATGATATAGTAAATGTACATAGTATATAGTACTACCAGATGTCATTTTTTACTTAAATTTGAATAATTAGAATATAGATTGTATGAAAAAATAGTCTATAGTTGGGATATGCTTTTAAATTTTTCCAAATACTTTTCCCTTCAATGAGACAATTGAAAGCACTTTTGAGATCTAAAAGTTGACTGTCTCTTTCAAGAATTCCACCAAGTTGGCAGCCAACCACTTGAATACCAACAAAGCTGGAAAACTTAGCTAACACAAGCCTTGCTAAATACGTACCTTAAATGGGAGAAACCGTTATAATTAATATTGTAGCAATAAGGTTTAAGTAAAGTGGAAAAGCTTACAATTCATGAAATAGGATTGTTCTATTGAGTCATATACAAAGCATAAAGCAATGTTTCTCTTGTAAAACATTTTCAAGACAGAGTCTCACTCTGTGCCCCATGCTGGAATACAGTGGCACCATCTCAGTTCACTGCAACCTCTGCCTCCTGGGTTCAAACGATTCTCGTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGACACCCGCCACCATGCCCAGCTAGTGTTTGTATTTTTTTAGTAGAGATAGGGTTTCATGATGTTGCCCAGGCTAGTCTTCAACTCCTGACCTCAGGTGACCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACCAAGCCCAGCCTGTAAAACATTTTCTTGAGGGACCTACTGACATACTAGACTGCAAGTAGTCCACATTAGTGAGTTGCTGCTGCATTAGAGTCTGGCAGACTTGTCTGGAACACCACTGCTAATGGAGGCAAGCATCACTGTAGAGTCAATATACCACAGCCCAAAAGCCCAAACCAAGACAACGGTCTCTGACCCATGATACGAATTCTGAACAAAGACTTAATTTTTAATTCTTAGCCTATGAGATCCTATACTTTCATGCTAAAACAGTTAAGTCTTTAGAATATTTTTAAAGATATGGAAGGGCCTGAAAATTACTGCATAAAGATTACCTTTACTGAAAAATGAAGTTAACATTGGGTTGCCTCACCCAGTAATGTCTCCTACCTCTTGTTATCGAACAGACCCTTTCCACAACCAAAAACCCCATTCTGCCTGTAGCTAAAAGAAGACTACACTGATGAACAAAACCAAGAGCTACTTTATAGGTGATACTGCCTTTTCATTTTAAGCCCATTTCTTTAATATTTATTGAGCACTGAGACATTATCAGCATCGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACTCCGTCTCTACCAAAAATATAAAAAATCAACCAGGTGTAGTGGCACGCAACTGTAATCCCAGCTACTCGAGAGGCTGAGGCAAGAGAATCACTTGAACCCAGGAGGCAGAAGTTGAAATGAGCCAAGATCATGCCACTGTACTCTAGCCTGGGCGACAGAGCAGGACTCTGTCTTTAAAAAAAAAAAAATAAAAAAATAACTTATCAGCATCGAGGATACAACAGAAATAAGCGCTCAGAACTT
ATTAATAAACTTGAAAAAATTCTTAAACATGGATGTATATAAAACTCATGATTTTACCCTTTATGTTTTAACACCAACAAAAACAAGGCAATATTTCTAAAAGAAACTGTATTTCTGAGGTTTCCTTAAACAAGTTGTAAAGTTTTGTTCTGAACCAGCTTCTTAATCTAATCAGAAAATTACAGATTTCACTGAAATATACTTTGTTTCATTTAAGATGCATTATGTGATTAAATCTTACAAATTATATTCTAAGAAACAATCTAATAGGAACTCCCTCAAATCTGCAAAAAGTAACTGCTATGTATTTTAATATGTTCTATTAAATCACATGTAAGACAATGATATACTTAGCATATTAATTGGAGCAAGATAAAAGACTTCTTTTGCCTTTTACAACATACTCTCAGAAGACTCACTTTATGGACAATATCTCAGAAATACTTTCTGCTTATTACTCAACAACAACAAAAAAAATTGCAAATGTGTGCAATTGTTATAGTGAGCTTAAGTGAATTTTCCAAAAGGTAACACAGGCAAAAAAAAAAAAAAAATTGTGTATAATATGCGTTGCAATGAATGCCCATCTACCAAATTGTATTGTCATCCCTAAGAACTCTTCCAAATGTGCAAAATTTACTCAAATTCTTAAGTTGTAAATCCTCTGCTTCTTTATGCCTTCTCACCACCCTTGCAACTGATTACCTTGCCTCTACCACAATTGAGCTGTCTGGAGAAGAGGAAGGAGTCAAGGGGGAAGCACAAGATCCAGGGGAAAGTTTTGTGGTCATTAATGGTTCCTGGACCACAAGTTTCACTACCTTAAATACCATTTATCCTTTTGTTTAAAGGCAAATCAAAATATTTCATTTGGTCTATGAAATTCTTACACAGTTTTAAATTTAAAGTGAAATTCATGTTGCAGAAGGAAGAGATGAAGTTAGGGAAAATTTCCTACGGCAATTCAAATACACATGGGTTATTGAAGTTATAGACTGTCTTTCCTAAATAGGTTTTAAAGGGGAAAAAAAAAAAAGCTTCTGGGCACCCAGATGGCTAGGAAGGCTTGCTTCCTGTTGGCCTATAATCTTAGAGGAAACTATTACATAGATGTTATAATTCATCTTAAAATAATACCCTTTAAGCACTTATTATTAATACCCTTTAAGCACTTAGTATTCTAATAGCTAACATAATTTCCAATCCTAAAATGACCTTACAAGTATTATTTTTTATATTTTCACAGGTAGGGAAAATGGACTCAGAAAGTTAAAAACACGACATCACTAGTAAATAAAAAGACAGATTTGGACCTAGGTCTGTCCAACTTCATAGCCTATTTCTATTATATAATACCATCGCTTGGCAATAAATTTCACTAAGTCTCCAATTTAGACTGCAAAAAAGTTTAGTATCTATTACCATATTTATATAATTTTACTTGGTAATAGAAGGAAAAAAATAAACATGCTCCAAAGATTACAATAGGTCTTTTGCTATCCTGTGTTTATTTTGGTGAAGCAAATGGAAACAATTGTCATCTCAAGATGATTTACTTTAAGGTCTATGAAAATCTTATATAGTATATACTAGAAAACAAACCACTTCGAAACTAACACAAAATTGAGTACAATGGACCATATTATACATATCCTTTACTTCTGAGAGATTTCTCTGGCATTTTTAATATAACTGCCTTTTAATTTTCATTAAAGTTTCATTTATATCTATACTGTAATAACATTAATACATTCTTCTCCAAATACCTCATATCACATTATGGTAGATGACTATAGCAAAAGATATGTTCCAGAACAGTCTCAATCTATAAAGTTACTACAACAAATCACCATAACATCTTTAGGTCATCATGCACATTTTAAATAATTTGACATTTAAACAGAATTGAATCAAAATTCAGCAAATGAACCACACTACAGTGCTTGTCCCTTCTATCTAGACTCAAGAAAAAAGACTTACCCCGTGTTCCTTAGCAGCTGTGACAACTTTAAGAAGGACACCTTCCTCAACAAATGGTCTCACAGCATTATGGATAATCACTACTTCTGGCTTAGAGAGTTTAGAGTTGATCTGATCTTCTGCCAGTGCTTTTAGTCCATTGAAAATTGACCTGTGGCGGGTCACTCCAGCTTCGACCAGTGAGATGCGTTTATGCTGATACTTCTGAATAATACTTTTCATTACTTCCATGTTCTCTCCAGTTACTGCCACAACAATGTCCTTTATCCAACATACTCTAAAAGGAAAGTATATGTACAATTCGTAAATTAATTCTTAGACAACTAAAGTGAGTAACAGAAAATTGAATCACTAGTATTGGTATATTTAAATAGGGAGATTAAAAACTGCAAGTTAATAAAACAGTTTTATGCATTCTCGTTAGGTCCAGTAAAGAGGCTGATGAAAAAGAATCAGTGAGCATTTAACACTATAGCTCTAGATAGTGTTTCATATTACATAGAATATCTTACATGATATAGTAAATGTACATAGTATATAGTACTACCAGATGTCATTTTTTACTTAAATTTGAATAATTAGAATATAGATTGTATGAAAAAATAGTCTATAGTTGGGATATGCTTTTAAATTTTTCCAAATACTTTTCCCTTCAATGAGACAATTGAAAGCACTTTTGAGATCTAAAAGTTGACTGTCTCTTTCAAGAATTCCACCAAGTTGGCAGCCAACCACTTGAATACCAACAAAGCTGGAAAACTTAGCTAACACAAGCCTTGCTAAATACGTACCTTAAATGGGAGAAACCGTTATAATTAATATTGTAGCAATAAGGTTTAAGTAAAGTGGAAAAGCTTACAATTCATGAAATAGGATTGTTCTATTGAGTCATATACAAAGCATAAAGCAATGTTTCTCTTGTAAAACATTTTCAAGACAGAGTCTCACTCTGTGCCCCATGCTGGAATACAGTGGCACCATCTCAGTTCACTGCAACCTCTGCCTCCTGGGTTCAAACGATTCTCGTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGACACCCGCCACCATGCCCAGCTAGTGTTTGTATTTTTTTAGTAGAGATAGGGTTTCATGATGTTGCCCAGGCTAGTCTTCAACTCCTGACCTCAGGTGACCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACCAAGCCCAGCCTGTAAAACATTTTCTTGAGGGACCTACTGACATACTAGACTGCAAGTAGTCCACATTAGTGAGTTGCTGCTGCATTAGAGTCTGGCAGACTTGTCTGGAACACCACTGCTAATGGAGGCAAGCATCACTGTAGAGTCAATATACCACAGCCCAAAAGCCCAAACCAAGACAACGGTCTCTGACCCATGATACGAATTCTGAACAAAGACTTAATTTTTAATTCTTAGCCTATGAGATCCTATACTTTCATGCTAAAACAGTTAAGTCTTTAGAATATTTTTAAAGATATGGAAGGGCCTGAAAATTACTGCATAAAGATTACCTTTACTGAAAAATGAAGTTAACATTGGGTTGCCTCACCCAGTAATGTCTCCTACCTCTTGTTATCGAACAGACCCTTTCCACAACCAAAAACCCCATTCTGCCTGTAGCTAAAAGAAGACTACACTGATGAACAAAACCAAGAGCTACTTTATAGGTGATACTGCCTTTTCATTTTAAGCCCATTTCTTTAATATTTATTGAGCACTGAGACATTATCAGCATCGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACTCCGTCTCTACCAAAAATATAAAAAATCAACCAGGTGTAGTGGCACGCAACTGTAATCCCAGCTACTCGAGAGGCTGAGGCAAGAGAATCACTTGAACCCAGGAGGCAGAAGTTGAAATGAGCCAAGATCATGCCACTGTACTCTAGCCTGGGCGACAGAGCAGGACTCTGTCTTTAAAAAAAAAAAAATAAAAAAATAACTTATCAGCATCGAGGATACAACAGAAATAAGCGCTCAGAACTT
Task1_train_10993
Located on Chromosome 7, this mutation impacts CRPPA (CDP-L-ribitol pyrophosphorylase A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
GAAACTGTATTTCTGAGGTTTCCTTAAACAAGTTGTAAAGTTTTGTTCTGAACCAGCTTCTTAATCTAATCAGAAAATTACAGATTTCACTGAAATATACTTTGTTTCATTTAAGATGCATTATGTGATTAAATCTTACAAATTATATTCTAAGAAACAATCTAATAGGAACTCCCTCAAATCTGCAAAAAGTAACTGCTATGTATTTTAATATGTTCTATTAAATCACATGTAAGACAATGATATACTTAGCATATTAATTGGAGCAAGATAAAAGACTTCTTTTGCCTTTTACAACATACTCTCAGAAGACTCACTTTATGGACAATATCTCAGAAATACTTTCTGCTTATTACTCAACAACAACAAAAAAAATTGCAAATGTGTGCAATTGTTATAGTGAGCTTAAGTGAATTTTCCAAAAGGTAACACAGGCAAAAAAAAAAAAAAAATTGTGTATAATATGCGTTGCAATGAATGCCCATCTACCAAATTGTATTGTCATCCCTAAGAACTCTTCCAAATGTGCAAAATTTACTCAAATTCTTAAGTTGTAAATCCTCTGCTTCTTTATGCCTTCTCACCACCCTTGCAACTGATTACCTTGCCTCTACCACAATTGAGCTGTCTGGAGAAGAGGAAGGAGTCAAGGGGGAAGCACAAGATCCAGGGGAAAGTTTTGTGGTCATTAATGGTTCCTGGACCACAAGTTTCACTACCTTAAATACCATTTATCCTTTTGTTTAAAGGCAAATCAAAATATTTCATTTGGTCTATGAAATTCTTACACAGTTTTAAATTTAAAGTGAAATTCATGTTGCAGAAGGAAGAGATGAAGTTAGGGAAAATTTCCTACGGCAATTCAAATACACATGGGTTATTGAAGTTATAGACTGTCTTTCCTAAATAGGTTTTAAAGGGGAAAAAAAAAAAAGCTTCTGGGCACCCAGATGGCTAGGAAGGCTTGCTTCCTGTTGGCCTATAATCTTAGAGGAAACTATTACATAGATGTTATAATTCATCTTAAAATAATACCCTTTAAGCACTTATTATTAATACCCTTTAAGCACTTAGTATTCTAATAGCTAACATAATTTCCAATCCTAAAATGACCTTACAAGTATTATTTTTTATATTTTCACAGGTAGGGAAAATGGACTCAGAAAGTTAAAAACACGACATCACTAGTAAATAAAAAGACAGATTTGGACCTAGGTCTGTCCAACTTCATAGCCTATTTCTATTATATAATACCATCGCTTGGCAATAAATTTCACTAAGTCTCCAATTTAGACTGCAAAAAAGTTTAGTATCTATTACCATATTTATATAATTTTACTTGGTAATAGAAGGAAAAAAATAAACATGCTCCAAAGATTACAATAGGTCTTTTGCTATCCTGTGTTTATTTTGGTGAAGCAAATGGAAACAATTGTCATCTCAAGATGATTTACTTTAAGGTCTATGAAAATCTTATATAGTATATACTAGAAAACAAACCACTTCGAAACTAACACAAAATTGAGTACAATGGACCATATTATACATATCCTTTACTTCTGAGAGATTTCTCTGGCATTTTTAATATAACTGCCTTTTAATTTTCATTAAAGTTTCATTTATATCTATACTGTAATAACATTAATACATTCTTCTCCAAATACCTCATATCACATTATGGTAGATGACTATAGCAAAAGATATGTTCCAGAACAGTCTCAATCTATAAAGTTACTACAACAAATCACCATAACATCTTTAGGTCATCATGCACATTTTAAATAATTTGACATTTAAACAGAATTGAATCAAAATTCAGCAAATGAACCACACTACAGTGCTTGTCCCTTCTATCTAGACTCAAGAAAAAAGACTTACCCCGTGTTCCTTAGCAGCTGTGACAACTTTAAGAAGGACACCTTCCTCAACAAATGGTCTCACAGCATCATGGATAATCACTACTTCTGGCTTAGAGAGTTTAGAGTTGATCTGATCTTCTGCCAGTGCTTTTAGTCCATTGAAAATTGACCTGTGGCGGGTCACTCCAGCTTCGACCAGTGAGATGCGTTTATGCTGATACTTCTGAATAATACTTTTCATTACTTCCATGTTCTCTCCAGTTACTGCCACAACAATGTCCTTTATCCAACATACTCTAAAAGGAAAGTATATGTACAATTCGTAAATTAATTCTTAGACAACTAAAGTGAGTAACAGAAAATTGAATCACTAGTATTGGTATATTTAAATAGGGAGATTAAAAACTGCAAGTTAATAAAACAGTTTTATGCATTCTCGTTAGGTCCAGTAAAGAGGCTGATGAAAAAGAATCAGTGAGCATTTAACACTATAGCTCTAGATAGTGTTTCATATTACATAGAATATCTTACATGATATAGTAAATGTACATAGTATATAGTACTACCAGATGTCATTTTTTACTTAAATTTGAATAATTAGAATATAGATTGTATGAAAAAATAGTCTATAGTTGGGATATGCTTTTAAATTTTTCCAAATACTTTTCCCTTCAATGAGACAATTGAAAGCACTTTTGAGATCTAAAAGTTGACTGTCTCTTTCAAGAATTCCACCAAGTTGGCAGCCAACCACTTGAATACCAACAAAGCTGGAAAACTTAGCTAACACAAGCCTTGCTAAATACGTACCTTAAATGGGAGAAACCGTTATAATTAATATTGTAGCAATAAGGTTTAAGTAAAGTGGAAAAGCTTACAATTCATGAAATAGGATTGTTCTATTGAGTCATATACAAAGCATAAAGCAATGTTTCTCTTGTAAAACATTTTCAAGACAGAGTCTCACTCTGTGCCCCATGCTGGAATACAGTGGCACCATCTCAGTTCACTGCAACCTCTGCCTCCTGGGTTCAAACGATTCTCGTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGACACCCGCCACCATGCCCAGCTAGTGTTTGTATTTTTTTAGTAGAGATAGGGTTTCATGATGTTGCCCAGGCTAGTCTTCAACTCCTGACCTCAGGTGACCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACCAAGCCCAGCCTGTAAAACATTTTCTTGAGGGACCTACTGACATACTAGACTGCAAGTAGTCCACATTAGTGAGTTGCTGCTGCATTAGAGTCTGGCAGACTTGTCTGGAACACCACTGCTAATGGAGGCAAGCATCACTGTAGAGTCAATATACCACAGCCCAAAAGCCCAAACCAAGACAACGGTCTCTGACCCATGATACGAATTCTGAACAAAGACTTAATTTTTAATTCTTAGCCTATGAGATCCTATACTTTCATGCTAAAACAGTTAAGTCTTTAGAATATTTTTAAAGATATGGAAGGGCCTGAAAATTACTGCATAAAGATTACCTTTACTGAAAAATGAAGTTAACATTGGGTTGCCTCACCCAGTAATGTCTCCTACCTCTTGTTATCGAACAGACCCTTTCCACAACCAAAAACCCCATTCTGCCTGTAGCTAAAAGAAGACTACACTGATGAACAAAACCAAGAGCTACTTTATAGGTGATACTGCCTTTTCATTTTAAGCCCATTTCTTTAATATTTATTGAGCACTGAGACATTATCAGCATCGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACTCCGTCTCTACCAAAAATATAAAAAATCAACCAGGTGTAGTGGCACGCAACTGTAATCCCAGCTACTCGAGAGGCTGAGGCAAGAGAATCACTTGAACCCAGGAGGCAGAAGTTGAAATGAGCCAAGATCATGCCACTGTACTCTAGCCTGGGCGACAGAGCAGGACTCTGTCTTTAAAAAAAAAAAAATAAAAAAATAACTTATCAGCATCGAGGATACAACAGAAATAAGCGCTCAGAACTTACAGACATGAAACAAAAACACCGATCAACAATTGCAAGCTGTGATTAAACACAATGAAGAAGTCCACGTTCAAGACAGCATGTAGGCTGAGTAGCTAAACAG
GAAACTGTATTTCTGAGGTTTCCTTAAACAAGTTGTAAAGTTTTGTTCTGAACCAGCTTCTTAATCTAATCAGAAAATTACAGATTTCACTGAAATATACTTTGTTTCATTTAAGATGCATTATGTGATTAAATCTTACAAATTATATTCTAAGAAACAATCTAATAGGAACTCCCTCAAATCTGCAAAAAGTAACTGCTATGTATTTTAATATGTTCTATTAAATCACATGTAAGACAATGATATACTTAGCATATTAATTGGAGCAAGATAAAAGACTTCTTTTGCCTTTTACAACATACTCTCAGAAGACTCACTTTATGGACAATATCTCAGAAATACTTTCTGCTTATTACTCAACAACAACAAAAAAAATTGCAAATGTGTGCAATTGTTATAGTGAGCTTAAGTGAATTTTCCAAAAGGTAACACAGGCAAAAAAAAAAAAAAAATTGTGTATAATATGCGTTGCAATGAATGCCCATCTACCAAATTGTATTGTCATCCCTAAGAACTCTTCCAAATGTGCAAAATTTACTCAAATTCTTAAGTTGTAAATCCTCTGCTTCTTTATGCCTTCTCACCACCCTTGCAACTGATTACCTTGCCTCTACCACAATTGAGCTGTCTGGAGAAGAGGAAGGAGTCAAGGGGGAAGCACAAGATCCAGGGGAAAGTTTTGTGGTCATTAATGGTTCCTGGACCACAAGTTTCACTACCTTAAATACCATTTATCCTTTTGTTTAAAGGCAAATCAAAATATTTCATTTGGTCTATGAAATTCTTACACAGTTTTAAATTTAAAGTGAAATTCATGTTGCAGAAGGAAGAGATGAAGTTAGGGAAAATTTCCTACGGCAATTCAAATACACATGGGTTATTGAAGTTATAGACTGTCTTTCCTAAATAGGTTTTAAAGGGGAAAAAAAAAAAAGCTTCTGGGCACCCAGATGGCTAGGAAGGCTTGCTTCCTGTTGGCCTATAATCTTAGAGGAAACTATTACATAGATGTTATAATTCATCTTAAAATAATACCCTTTAAGCACTTATTATTAATACCCTTTAAGCACTTAGTATTCTAATAGCTAACATAATTTCCAATCCTAAAATGACCTTACAAGTATTATTTTTTATATTTTCACAGGTAGGGAAAATGGACTCAGAAAGTTAAAAACACGACATCACTAGTAAATAAAAAGACAGATTTGGACCTAGGTCTGTCCAACTTCATAGCCTATTTCTATTATATAATACCATCGCTTGGCAATAAATTTCACTAAGTCTCCAATTTAGACTGCAAAAAAGTTTAGTATCTATTACCATATTTATATAATTTTACTTGGTAATAGAAGGAAAAAAATAAACATGCTCCAAAGATTACAATAGGTCTTTTGCTATCCTGTGTTTATTTTGGTGAAGCAAATGGAAACAATTGTCATCTCAAGATGATTTACTTTAAGGTCTATGAAAATCTTATATAGTATATACTAGAAAACAAACCACTTCGAAACTAACACAAAATTGAGTACAATGGACCATATTATACATATCCTTTACTTCTGAGAGATTTCTCTGGCATTTTTAATATAACTGCCTTTTAATTTTCATTAAAGTTTCATTTATATCTATACTGTAATAACATTAATACATTCTTCTCCAAATACCTCATATCACATTATGGTAGATGACTATAGCAAAAGATATGTTCCAGAACAGTCTCAATCTATAAAGTTACTACAACAAATCACCATAACATCTTTAGGTCATCATGCACATTTTAAATAATTTGACATTTAAACAGAATTGAATCAAAATTCAGCAAATGAACCACACTACAGTGCTTGTCCCTTCTATCTAGACTCAAGAAAAAAGACTTACCCCGTGTTCCTTAGCAGCTGTGACAACTTTAAGAAGGACACCTTCCTCAACAAATGGTCTCACAGCATCATGGATAATCACTACTTCTGGCTTAGAGAGTTTAGAGTTGATCTGATCTTCTGCCAGTGCTTTTAGTCCATTGAAAATTGACCTGTGGCGGGTCACTCCAGGTTCGACCAGTGAGATGCGTTTATGCTGATACTTCTGAATAATACTTTTCATTACTTCCATGTTCTCTCCAGTTACTGCCACAACAATGTCCTTTATCCAACATACTCTAAAAGGAAAGTATATGTACAATTCGTAAATTAATTCTTAGACAACTAAAGTGAGTAACAGAAAATTGAATCACTAGTATTGGTATATTTAAATAGGGAGATTAAAAACTGCAAGTTAATAAAACAGTTTTATGCATTCTCGTTAGGTCCAGTAAAGAGGCTGATGAAAAAGAATCAGTGAGCATTTAACACTATAGCTCTAGATAGTGTTTCATATTACATAGAATATCTTACATGATATAGTAAATGTACATAGTATATAGTACTACCAGATGTCATTTTTTACTTAAATTTGAATAATTAGAATATAGATTGTATGAAAAAATAGTCTATAGTTGGGATATGCTTTTAAATTTTTCCAAATACTTTTCCCTTCAATGAGACAATTGAAAGCACTTTTGAGATCTAAAAGTTGACTGTCTCTTTCAAGAATTCCACCAAGTTGGCAGCCAACCACTTGAATACCAACAAAGCTGGAAAACTTAGCTAACACAAGCCTTGCTAAATACGTACCTTAAATGGGAGAAACCGTTATAATTAATATTGTAGCAATAAGGTTTAAGTAAAGTGGAAAAGCTTACAATTCATGAAATAGGATTGTTCTATTGAGTCATATACAAAGCATAAAGCAATGTTTCTCTTGTAAAACATTTTCAAGACAGAGTCTCACTCTGTGCCCCATGCTGGAATACAGTGGCACCATCTCAGTTCACTGCAACCTCTGCCTCCTGGGTTCAAACGATTCTCGTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGACACCCGCCACCATGCCCAGCTAGTGTTTGTATTTTTTTAGTAGAGATAGGGTTTCATGATGTTGCCCAGGCTAGTCTTCAACTCCTGACCTCAGGTGACCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACCAAGCCCAGCCTGTAAAACATTTTCTTGAGGGACCTACTGACATACTAGACTGCAAGTAGTCCACATTAGTGAGTTGCTGCTGCATTAGAGTCTGGCAGACTTGTCTGGAACACCACTGCTAATGGAGGCAAGCATCACTGTAGAGTCAATATACCACAGCCCAAAAGCCCAAACCAAGACAACGGTCTCTGACCCATGATACGAATTCTGAACAAAGACTTAATTTTTAATTCTTAGCCTATGAGATCCTATACTTTCATGCTAAAACAGTTAAGTCTTTAGAATATTTTTAAAGATATGGAAGGGCCTGAAAATTACTGCATAAAGATTACCTTTACTGAAAAATGAAGTTAACATTGGGTTGCCTCACCCAGTAATGTCTCCTACCTCTTGTTATCGAACAGACCCTTTCCACAACCAAAAACCCCATTCTGCCTGTAGCTAAAAGAAGACTACACTGATGAACAAAACCAAGAGCTACTTTATAGGTGATACTGCCTTTTCATTTTAAGCCCATTTCTTTAATATTTATTGAGCACTGAGACATTATCAGCATCGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACTCCGTCTCTACCAAAAATATAAAAAATCAACCAGGTGTAGTGGCACGCAACTGTAATCCCAGCTACTCGAGAGGCTGAGGCAAGAGAATCACTTGAACCCAGGAGGCAGAAGTTGAAATGAGCCAAGATCATGCCACTGTACTCTAGCCTGGGCGACAGAGCAGGACTCTGTCTTTAAAAAAAAAAAAATAAAAAAATAACTTATCAGCATCGAGGATACAACAGAAATAAGCGCTCAGAACTTACAGACATGAAACAAAAACACCGATCAACAATTGCAAGCTGTGATTAAACACAATGAAGAAGTCCACGTTCAAGACAGCATGTAGGCTGAGTAGCTAAACAG
Task1_train_10994
This variant affects the gene CRPPA, LOC129998004 (CDP-L-ribitol pyrophosphorylase A| ATAC-STARR-seq lymphoblastoid silent region 17981) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2U
GAAATGGAATAAAGTTAGCAACTGGAATCATTTCAAATTTTGAGTTTCAGATGTAATCATTGGGCAGATTACCTAAATCAGTGATTATGGCTTTTTACACTTCCATTTTCCAAACTCCAATATTCAGAAAGTAAAATAGTCATATGAGAACCTGAAACTGCCTTTGTGAAAATTATAACTGAGGAAATTAGGACAGTGAAAGATCAGTCCTAACTAACTCCATCTTGCTTCTAACCATTAAGCTCATTCCTTGGCATAGGCCGAACTAACCTTGGGAAGGAATTTAGTTTATGGTTTGACTCTGGAACAAAATTGATAATAGCCCTTTCCCAAAAAGACCCCTTTCTTGCCTGGGGACCAGTCTGCCTTCACAGGACTAACAAATTAGCTACAAGATTAGAAATTACAGTTTAGGGGTCATGCATCCTCTGGCTGCAAGAGTCTGAACCTCTCCAAATTGCTCCTGGGGATAACATCACTATTGTAAAACCTAAGATCAGTGCTTGAGATATTTTATAGACCCTTCACTCCATGAATCAGCTGACACCACCCAACCCAGTAATCTGTCTCAACCAGTTCTGCGATCCCACCCAGAAACAGAAGACACCAAGAAAACCTCACATAGACCCCCTATGATTCCATCTCCAAACTCATCAATTCGCACTCCCCACTTCCCGAGCCTCTACCCGCCAAATTATCTTTTAAAACTCCGATCCCGAAATGCTCGATTTGAGTAATAATTTTTGAGTAATAATTTTTTGAGTAATAATTTGATATGAGACTGATTTGAGTAATAATAAAACTCCAATCTCCCGCACAGCCGACTCTGCGTGAATTACTCTTTCTCCATTGCAATTCCCCTGTCTTGATAAATCCGCTCTGTTTAGGCAGGGGCAAGGTGAACCCGTGGGGCGGTTACAAAACAACTTGAACCTTTTGGCTTTTGAAGCATGTGTGAGGGTTTGCGTGGGGCTCCTTTCTGGGGAACGTGCCACTTCCCTTGGACTAGAACCTCACTAGCTTGGTTTTCAAAACCTCCTGCAAAGGCAATGTATGCTAAAGGATGACATCTATCTGGAAATGCAAACGGTTCGCATCAATTCAAGGCTTCACAAACTACCACAGCTCCCCACTGGCTTCAGAGAAGTTCAAACACCTTAGCAAAATTATGTGGATATTTGTAATGCCGCTGCTTCCCACCCCTGCACCCTCGCCCCAAGCTCCACCTCATTACTCAGTGCTAAAAGCAAAGTAAGTTAATATTATAACATACCCCTTCATTTCACTTCCTCAGCTCCTCACGACTGTTCCCCTAGTCCTCCTTATCCCATTCCCTGTCTCCTTCATTTCCCCAACTAGTTAACTTCAGTGCCCTTTCTAAGATAAAGGGGGTATGACCTCAAATTCAGGCTTAAAGCCCTTTCCACCATTGAAAGGTTATTAAATTCTGCTCCTCTCCCCTCCTGCAGCACCTAGTAATTAGCGCAGCCTGTCTCACAGAAGGTGCTCAGTAAATGAATGAAAAAAACGAACACACGCCCTGGAAACTTCAGTGTGCACGTACAACTCAATCCACGCATGCGCGGAGGCAGAGCCCCAGGACCGCGAGACTATCCGCACAGCTTCTCCTCAGGCCCCACAGCTAGAACCCCAAATCGCCTAGTCCCAACCCATGCACTCTCTAATCGGCGCCACACGACGGGCCTTCCCCACAACCTCATCTGCTTGGGGACGTAAAGGGCTCTGTGGGGGAGCTGCAGCTTTCGTGCCCATCTGTTAAAGGCCAGAACTTCCCATCTCTGAAATGCGGGAGGGAACAGAGCTCAAGCTTGAATAACTGAGCGCGGCCCGGCAGTCCCCCAAGTGAAGGTGCTAGCGCTAGAGCAGCGGCAGGGCGGGGAGCGGGAGGCCGGGCCCCAGGGAACCGCGGGGCGCGCCCGGCGCCGCATTACCTCTCCAGGGCCTGTAGGGTGTAGCTGATGAGCGGCCTCTCCAGGATGGGGCAGAATTGCTTCGGGGTGGGGACCCCCATCCTCTCCCCGCACCCCCCGGCAGGCAACACAGCTGCCACGGCTTGCGGGTGGCGCCCGGGCTCGGTCCCGGCCACGCTCTGCAGGGAGGCGGAAGCCGTGTGGTCCGCGCCGCGCTGACCACTCAGGCAAGGACCCGGCTCCGCCGGCCTGGCGCTGCCCGGCGGCCCGGCCTCCATGGCTGCGGGCGGAACGGCGAGCCCCGCTAGCCTCGGGCCGATGCGACCCCGCGCTGCTCCCACCCTCGGCCGGGGTCGCGGGGCGAAGGGCAGACCACGGAGAGGGACGCAGAGCGCGCAAGCAGAAGGCGCCCCCCTCAGCCGTCGGAGCCCCGCTGTTGCTGCCCCGCAGGGGACGATCCCGACAGCTACGGCAGCAGCTGAGGCTGCCGATCTGCCCTCGCGGCTCGGCTGCGGCCTCCGCACCCGGTCCCAGCGCCTGCGGGAGGGCTGACTTGCCCGCTCTGCGCTTCCCCCGGGCAGGCCCAGCTGTCGCCGCAAGTGGAAATGTCAGAACGCCCTACATATCTAAAGATCGCAGATACTCAAGGGCCATGAGTATGCAGGAGAGGTCAGGCCTCTGTCCCATCCCTCCCTGCTTTAAAATTTCGGAAGAGATTGGGATTCAAGTCACAGGATGGGACGTAGGGTGCGTATGCACCTCGATTATCTGAATTCCATTAAGCTCTGGAGGCTTCCTGGTTCCACCTGGGGTAAAGACAGATGGATTAGCAAGTGTTATTGTGGCACATCAATAATCCAAACTGTGGTGGCTCTCAAACTTGTCTGCACTTTGGAACCACCTGGGGAGCGTGTCCTGACACGCTCAGAGATTGGGATTTAATTGGTCTGGTGAGCACCGGACTTTGGAATGTTTTTAAAGATCCTCGGGTGATTCTGATGAGCAGGCATGTTTTGGAACCATAGGGTCAAAGCAATACTAATTGCTGAACAATCGATACACCTTATGTCATTTAGTCCCCAGAAGAACTCAACTATTGCCATTTCCCTTTTTACAAAGGGGAAAAGACGTTAAAATGGTTAATTTATGTAAGATTGCACAACTAATGGCAGAGGAGCCTTAAGGCCCTCATACAGAAGTAGGCCAAAGTTGAAGAATTCCAGGCCTAAAGCATATCTTACCTTATTTAGTACTCTTGTTGCTGGTGAGGTTTACCATGAAAGTATAGTGAGAATTTGGAGGAGAGCACTATTGTATTAGGTCCCTGGAATGTAAACTCCATGCAAGCAGCAACATTTTTCTTTTGGCTTGGGTTGTGTGTGTGTGCCCAGCTCCTGGAATGTAACACAAGCTTAATATGTATTGAATGAATTGCTGATTAAATAGATTAATGATCATTAAAGTGTATAATCATCAGTAATTCAGTCTTAATCCAGTGGCTTATGATTAATAAAAAATAATCTTTTTAAACACTGGAAATGTTATCTAGTTGTAGTATTACAATTTTTATTTTTACCTGTTTTCTTGAGAGCATATAAAAATATGTTTTCTGCTTTTCCTTTTTGTTTAGTCTTATTGAAGGCATTCTTTCACTTTTGTTACTTTTATTATAATTAGCATTTAGGTCCTGTGCTAGTTGGTTTCTTAACTGAAAAGTGGGTGCCATAATATACTTCCTTGTAATTTTTATTGCTATCGTTCCTTTCTAATTTGATCTCGAGGTCTCTCTCTTACGAGTGGCCATAAGCCAGAACAGCCACTCTTCAGGAGAGCCCTGGCCCAGAGAGGAAAGCTAGGTTCTGGTGTGCAGGTGAGACGCCAGAGGAGGCAGCACACAAAACATGTGAAATAACAGGCGCATTTTATTACTTACAGATTCACCAGAGAATAAGCCTGATGGAAGTCTGGAGATAACAGGACTCCCAACCAGCAGGTGGGGTGCAAGAGAGAGGACCTGTGGGGCTGTGTTAAGGTCCAAAGGCTTTATCCCTTAGGCTTTCCAGAGGGGGTTGTGGATTGACTAGTTTAAAGAAAACACCAGCAAAGGGAGAACTTGACTCTGGTGTTGACCATTGGGTTTTATCATGGTTAGCAGCTGTTGGGTT
GAAATGGAATAAAGTTAGCAACTGGAATCATTTCAAATTTTGAGTTTCAGATGTAATCATTGGGCAGATTACCTAAATCAGTGATTATGGCTTTTTACACTTCCATTTTCCAAACTCCAATATTCAGAAAGTAAAATAGTCATATGAGAACCTGAAACTGCCTTTGTGAAAATTATAACTGAGGAAATTAGGACAGTGAAAGATCAGTCCTAACTAACTCCATCTTGCTTCTAACCATTAAGCTCATTCCTTGGCATAGGCCGAACTAACCTTGGGAAGGAATTTAGTTTATGGTTTGACTCTGGAACAAAATTGATAATAGCCCTTTCCCAAAAAGACCCCTTTCTTGCCTGGGGACCAGTCTGCCTTCACAGGACTAACAAATTAGCTACAAGATTAGAAATTACAGTTTAGGGGTCATGCATCCTCTGGCTGCAAGAGTCTGAACCTCTCCAAATTGCTCCTGGGGATAACATCACTATTGTAAAACCTAAGATCAGTGCTTGAGATATTTTATAGACCCTTCACTCCATGAATCAGCTGACACCACCCAACCCAGTAATCTGTCTCAACCAGTTCTGCGATCCCACCCAGAAACAGAAGACACCAAGAAAACCTCACATAGACCCCCTATGATTCCATCTCCAAACTCATCAATTCGCACTCCCCACTTCCCGAGCCTCTACCCGCCAAATTATCTTTTAAAACTCCGATCCCGAAATGCTCGATTTGAGTAATAATTTTTGAGTAATAATTTTTTGAGTAATAATTTGATATGAGACTGATTTGAGTAATAATAAAACTCCAATCTCCCGCACAGCCGACTCTGCGTGAATTACTCTTTCTCCATTGCAATTCCCCTGTCTTGATAAATCCGCTCTGTTTAGGCAGGGGCAAGGTGAACCCGTGGGGCGGTTACAAAACAACTTGAACCTTTTGGCTTTTGAAGCATGTGTGAGGGTTTGCGTGGGGCTCCTTTCTGGGGAACGTGCCACTTCCCTTGGACTAGAACCTCACTAGCTTGGTTTTCAAAACCTCCTGCAAAGGCAATGTATGCTAAAGGATGACATCTATCTGGAAATGCAAACGGTTCGCATCAATTCAAGGCTTCACAAACTACCACAGCTCCCCACTGGCTTCAGAGAAGTTCAAACACCTTAGCAAAATTATGTGGATATTTGTAATGCCGCTGCTTCCCACCCCTGCACCCTCGCCCCAAGCTCCACCTCATTACTCAGTGCTAAAAGCAAAGTAAGTTAATATTATAACATACCCCTTCATTTCACTTCCTCAGCTCCTCACGACTGTTCCCCTAGTCCTCCTTATCCCATTCCCTGTCTCCTTCATTTCCCCAACTAGTTAACTTCAGTGCCCTTTCTAAGATAAAGGGGGTATGACCTCAAATTCAGGCTTAAAGCCCTTTCCACCATTGAAAGGTTATTAAATTCTGCTCCTCTCCCCTCCTGCAGCACCTAGTAATTAGCGCAGCCTGTCTCACAGAAGGTGCTCAGTAAATGAATGAAAAAAACGAACACACGCCCTGGAAACTTCAGTGTGCACGTACAACTCAATCCACGCATGCGCGGAGGCAGAGCCCCAGGACCGCGAGACTATCCGCACAGCTTCTCCTCAGGCCCCACAGCTAGAACCCCAAATCGCCTAGTCCCAACCCATGCACTCTCTAATCGGCGCCACACGACGGGCCTTCCCCACAACCTCATCTGCTTGGGGACGTAAAGGGCTCTGTGGGGGAGCTGCAGCTTTCGTGCCCATCTGTTAAAGGCCAGAACTTCCCATCTCTGAAATGCGGGAGGGAACAGAGCTCAAGCTTGAATAACTGAGCGCGGCCCGGCAGTCCCCCAAGTGAAGGTGCTAGCGCTAGAGCAGCGGCAGGGCGGGGAGCGGGAGGCCGGGCCCCAGGGAACCGCGGGGCGCGCCCGGCGCCGCATTACCTCTCCAGGGCCTGTAGGGTGTAGCTGATGAGCGGCCTCTCCAGGATGGGGCAGAATTGCTTCGGGGTGGGGACCCCCATCCTCTCCCCGCACCCCGCGGCAGGCAACACAGCTGCCACGGCTTGCGGGTGGCGCCCGGGCTCGGTCCCGGCCACGCTCTGCAGGGAGGCGGAAGCCGTGTGGTCCGCGCCGCGCTGACCACTCAGGCAAGGACCCGGCTCCGCCGGCCTGGCGCTGCCCGGCGGCCCGGCCTCCATGGCTGCGGGCGGAACGGCGAGCCCCGCTAGCCTCGGGCCGATGCGACCCCGCGCTGCTCCCACCCTCGGCCGGGGTCGCGGGGCGAAGGGCAGACCACGGAGAGGGACGCAGAGCGCGCAAGCAGAAGGCGCCCCCCTCAGCCGTCGGAGCCCCGCTGTTGCTGCCCCGCAGGGGACGATCCCGACAGCTACGGCAGCAGCTGAGGCTGCCGATCTGCCCTCGCGGCTCGGCTGCGGCCTCCGCACCCGGTCCCAGCGCCTGCGGGAGGGCTGACTTGCCCGCTCTGCGCTTCCCCCGGGCAGGCCCAGCTGTCGCCGCAAGTGGAAATGTCAGAACGCCCTACATATCTAAAGATCGCAGATACTCAAGGGCCATGAGTATGCAGGAGAGGTCAGGCCTCTGTCCCATCCCTCCCTGCTTTAAAATTTCGGAAGAGATTGGGATTCAAGTCACAGGATGGGACGTAGGGTGCGTATGCACCTCGATTATCTGAATTCCATTAAGCTCTGGAGGCTTCCTGGTTCCACCTGGGGTAAAGACAGATGGATTAGCAAGTGTTATTGTGGCACATCAATAATCCAAACTGTGGTGGCTCTCAAACTTGTCTGCACTTTGGAACCACCTGGGGAGCGTGTCCTGACACGCTCAGAGATTGGGATTTAATTGGTCTGGTGAGCACCGGACTTTGGAATGTTTTTAAAGATCCTCGGGTGATTCTGATGAGCAGGCATGTTTTGGAACCATAGGGTCAAAGCAATACTAATTGCTGAACAATCGATACACCTTATGTCATTTAGTCCCCAGAAGAACTCAACTATTGCCATTTCCCTTTTTACAAAGGGGAAAAGACGTTAAAATGGTTAATTTATGTAAGATTGCACAACTAATGGCAGAGGAGCCTTAAGGCCCTCATACAGAAGTAGGCCAAAGTTGAAGAATTCCAGGCCTAAAGCATATCTTACCTTATTTAGTACTCTTGTTGCTGGTGAGGTTTACCATGAAAGTATAGTGAGAATTTGGAGGAGAGCACTATTGTATTAGGTCCCTGGAATGTAAACTCCATGCAAGCAGCAACATTTTTCTTTTGGCTTGGGTTGTGTGTGTGTGCCCAGCTCCTGGAATGTAACACAAGCTTAATATGTATTGAATGAATTGCTGATTAAATAGATTAATGATCATTAAAGTGTATAATCATCAGTAATTCAGTCTTAATCCAGTGGCTTATGATTAATAAAAAATAATCTTTTTAAACACTGGAAATGTTATCTAGTTGTAGTATTACAATTTTTATTTTTACCTGTTTTCTTGAGAGCATATAAAAATATGTTTTCTGCTTTTCCTTTTTGTTTAGTCTTATTGAAGGCATTCTTTCACTTTTGTTACTTTTATTATAATTAGCATTTAGGTCCTGTGCTAGTTGGTTTCTTAACTGAAAAGTGGGTGCCATAATATACTTCCTTGTAATTTTTATTGCTATCGTTCCTTTCTAATTTGATCTCGAGGTCTCTCTCTTACGAGTGGCCATAAGCCAGAACAGCCACTCTTCAGGAGAGCCCTGGCCCAGAGAGGAAAGCTAGGTTCTGGTGTGCAGGTGAGACGCCAGAGGAGGCAGCACACAAAACATGTGAAATAACAGGCGCATTTTATTACTTACAGATTCACCAGAGAATAAGCCTGATGGAAGTCTGGAGATAACAGGACTCCCAACCAGCAGGTGGGGTGCAAGAGAGAGGACCTGTGGGGCTGTGTTAAGGTCCAAAGGCTTTATCCCTTAGGCTTTCCAGAGGGGGTTGTGGATTGACTAGTTTAAAGAAAACACCAGCAAAGGGAGAACTTGACTCTGGTGTTGACCATTGGGTTTTATCATGGTTAGCAGCTGTTGGGTT
Task1_train_10995
The variant affects gene CRPPA, LOC129998005 (CDP-L-ribitol pyrophosphorylase A| ATAC-STARR-seq lymphoblastoid silent region 17982), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; not provided
CCTTTGTGAAAATTATAACTGAGGAAATTAGGACAGTGAAAGATCAGTCCTAACTAACTCCATCTTGCTTCTAACCATTAAGCTCATTCCTTGGCATAGGCCGAACTAACCTTGGGAAGGAATTTAGTTTATGGTTTGACTCTGGAACAAAATTGATAATAGCCCTTTCCCAAAAAGACCCCTTTCTTGCCTGGGGACCAGTCTGCCTTCACAGGACTAACAAATTAGCTACAAGATTAGAAATTACAGTTTAGGGGTCATGCATCCTCTGGCTGCAAGAGTCTGAACCTCTCCAAATTGCTCCTGGGGATAACATCACTATTGTAAAACCTAAGATCAGTGCTTGAGATATTTTATAGACCCTTCACTCCATGAATCAGCTGACACCACCCAACCCAGTAATCTGTCTCAACCAGTTCTGCGATCCCACCCAGAAACAGAAGACACCAAGAAAACCTCACATAGACCCCCTATGATTCCATCTCCAAACTCATCAATTCGCACTCCCCACTTCCCGAGCCTCTACCCGCCAAATTATCTTTTAAAACTCCGATCCCGAAATGCTCGATTTGAGTAATAATTTTTGAGTAATAATTTTTTGAGTAATAATTTGATATGAGACTGATTTGAGTAATAATAAAACTCCAATCTCCCGCACAGCCGACTCTGCGTGAATTACTCTTTCTCCATTGCAATTCCCCTGTCTTGATAAATCCGCTCTGTTTAGGCAGGGGCAAGGTGAACCCGTGGGGCGGTTACAAAACAACTTGAACCTTTTGGCTTTTGAAGCATGTGTGAGGGTTTGCGTGGGGCTCCTTTCTGGGGAACGTGCCACTTCCCTTGGACTAGAACCTCACTAGCTTGGTTTTCAAAACCTCCTGCAAAGGCAATGTATGCTAAAGGATGACATCTATCTGGAAATGCAAACGGTTCGCATCAATTCAAGGCTTCACAAACTACCACAGCTCCCCACTGGCTTCAGAGAAGTTCAAACACCTTAGCAAAATTATGTGGATATTTGTAATGCCGCTGCTTCCCACCCCTGCACCCTCGCCCCAAGCTCCACCTCATTACTCAGTGCTAAAAGCAAAGTAAGTTAATATTATAACATACCCCTTCATTTCACTTCCTCAGCTCCTCACGACTGTTCCCCTAGTCCTCCTTATCCCATTCCCTGTCTCCTTCATTTCCCCAACTAGTTAACTTCAGTGCCCTTTCTAAGATAAAGGGGGTATGACCTCAAATTCAGGCTTAAAGCCCTTTCCACCATTGAAAGGTTATTAAATTCTGCTCCTCTCCCCTCCTGCAGCACCTAGTAATTAGCGCAGCCTGTCTCACAGAAGGTGCTCAGTAAATGAATGAAAAAAACGAACACACGCCCTGGAAACTTCAGTGTGCACGTACAACTCAATCCACGCATGCGCGGAGGCAGAGCCCCAGGACCGCGAGACTATCCGCACAGCTTCTCCTCAGGCCCCACAGCTAGAACCCCAAATCGCCTAGTCCCAACCCATGCACTCTCTAATCGGCGCCACACGACGGGCCTTCCCCACAACCTCATCTGCTTGGGGACGTAAAGGGCTCTGTGGGGGAGCTGCAGCTTTCGTGCCCATCTGTTAAAGGCCAGAACTTCCCATCTCTGAAATGCGGGAGGGAACAGAGCTCAAGCTTGAATAACTGAGCGCGGCCCGGCAGTCCCCCAAGTGAAGGTGCTAGCGCTAGAGCAGCGGCAGGGCGGGGAGCGGGAGGCCGGGCCCCAGGGAACCGCGGGGCGCGCCCGGCGCCGCATTACCTCTCCAGGGCCTGTAGGGTGTAGCTGATGAGCGGCCTCTCCAGGATGGGGCAGAATTGCTTCGGGGTGGGGACCCCCATCCTCTCCCCGCACCCCCCGGCAGGCAACACAGCTGCCACGGCTTGCGGGTGGCGCCCGGGCTCGGTCCCGGCCACGCTCTGCAGGGAGGCGGAAGCCGTGTGGTCCGCGCCGCGCTGACCACTCAGGCAAGGACCCGGCTCCGCCGGCCTGGCGCTGCCCGGCGGCCCGGCCTCCATGGCTGCGGGCGGAACGGCGAGCCCCGCTAGCCTCGGGCCGATGCGACCCCGCGCTGCTCCCACCCTCGGCCGGGGTCGCGGGGCGAAGGGCAGACCACGGAGAGGGACGCAGAGCGCGCAAGCAGAAGGCGCCCCCCTCAGCCGTCGGAGCCCCGCTGTTGCTGCCCCGCAGGGGACGATCCCGACAGCTACGGCAGCAGCTGAGGCTGCCGATCTGCCCTCGCGGCTCGGCTGCGGCCTCCGCACCCGGTCCCAGCGCCTGCGGGAGGGCTGACTTGCCCGCTCTGCGCTTCCCCCGGGCAGGCCCAGCTGTCGCCGCAAGTGGAAATGTCAGAACGCCCTACATATCTAAAGATCGCAGATACTCAAGGGCCATGAGTATGCAGGAGAGGTCAGGCCTCTGTCCCATCCCTCCCTGCTTTAAAATTTCGGAAGAGATTGGGATTCAAGTCACAGGATGGGACGTAGGGTGCGTATGCACCTCGATTATCTGAATTCCATTAAGCTCTGGAGGCTTCCTGGTTCCACCTGGGGTAAAGACAGATGGATTAGCAAGTGTTATTGTGGCACATCAATAATCCAAACTGTGGTGGCTCTCAAACTTGTCTGCACTTTGGAACCACCTGGGGAGCGTGTCCTGACACGCTCAGAGATTGGGATTTAATTGGTCTGGTGAGCACCGGACTTTGGAATGTTTTTAAAGATCCTCGGGTGATTCTGATGAGCAGGCATGTTTTGGAACCATAGGGTCAAAGCAATACTAATTGCTGAACAATCGATACACCTTATGTCATTTAGTCCCCAGAAGAACTCAACTATTGCCATTTCCCTTTTTACAAAGGGGAAAAGACGTTAAAATGGTTAATTTATGTAAGATTGCACAACTAATGGCAGAGGAGCCTTAAGGCCCTCATACAGAAGTAGGCCAAAGTTGAAGAATTCCAGGCCTAAAGCATATCTTACCTTATTTAGTACTCTTGTTGCTGGTGAGGTTTACCATGAAAGTATAGTGAGAATTTGGAGGAGAGCACTATTGTATTAGGTCCCTGGAATGTAAACTCCATGCAAGCAGCAACATTTTTCTTTTGGCTTGGGTTGTGTGTGTGTGCCCAGCTCCTGGAATGTAACACAAGCTTAATATGTATTGAATGAATTGCTGATTAAATAGATTAATGATCATTAAAGTGTATAATCATCAGTAATTCAGTCTTAATCCAGTGGCTTATGATTAATAAAAAATAATCTTTTTAAACACTGGAAATGTTATCTAGTTGTAGTATTACAATTTTTATTTTTACCTGTTTTCTTGAGAGCATATAAAAATATGTTTTCTGCTTTTCCTTTTTGTTTAGTCTTATTGAAGGCATTCTTTCACTTTTGTTACTTTTATTATAATTAGCATTTAGGTCCTGTGCTAGTTGGTTTCTTAACTGAAAAGTGGGTGCCATAATATACTTCCTTGTAATTTTTATTGCTATCGTTCCTTTCTAATTTGATCTCGAGGTCTCTCTCTTACGAGTGGCCATAAGCCAGAACAGCCACTCTTCAGGAGAGCCCTGGCCCAGAGAGGAAAGCTAGGTTCTGGTGTGCAGGTGAGACGCCAGAGGAGGCAGCACACAAAACATGTGAAATAACAGGCGCATTTTATTACTTACAGATTCACCAGAGAATAAGCCTGATGGAAGTCTGGAGATAACAGGACTCCCAACCAGCAGGTGGGGTGCAAGAGAGAGGACCTGTGGGGCTGTGTTAAGGTCCAAAGGCTTTATCCCTTAGGCTTTCCAGAGGGGGTTGTGGATTGACTAGTTTAAAGAAAACACCAGCAAAGGGAGAACTTGACTCTGGTGTTGACCATTGGGTTTTATCATGGTTAGCAGCTGTTGGGTTTTTGGTCATGGAATGAGGAATAAGTGTTCTATATCACAGGGAGGGGAAGTTTTAAGTAGGCCACAGGTGACGTGATACAACTGGGTTTCAAACAGCTTATATCAGGCCTAAAAATGGATGCCCAGGCAGCAACTATATTAAACAAGTTTGGCACAATACT
CCTTTGTGAAAATTATAACTGAGGAAATTAGGACAGTGAAAGATCAGTCCTAACTAACTCCATCTTGCTTCTAACCATTAAGCTCATTCCTTGGCATAGGCCGAACTAACCTTGGGAAGGAATTTAGTTTATGGTTTGACTCTGGAACAAAATTGATAATAGCCCTTTCCCAAAAAGACCCCTTTCTTGCCTGGGGACCAGTCTGCCTTCACAGGACTAACAAATTAGCTACAAGATTAGAAATTACAGTTTAGGGGTCATGCATCCTCTGGCTGCAAGAGTCTGAACCTCTCCAAATTGCTCCTGGGGATAACATCACTATTGTAAAACCTAAGATCAGTGCTTGAGATATTTTATAGACCCTTCACTCCATGAATCAGCTGACACCACCCAACCCAGTAATCTGTCTCAACCAGTTCTGCGATCCCACCCAGAAACAGAAGACACCAAGAAAACCTCACATAGACCCCCTATGATTCCATCTCCAAACTCATCAATTCGCACTCCCCACTTCCCGAGCCTCTACCCGCCAAATTATCTTTTAAAACTCCGATCCCGAAATGCTCGATTTGAGTAATAATTTTTGAGTAATAATTTTTTGAGTAATAATTTGATATGAGACTGATTTGAGTAATAATAAAACTCCAATCTCCCGCACAGCCGACTCTGCGTGAATTACTCTTTCTCCATTGCAATTCCCCTGTCTTGATAAATCCGCTCTGTTTAGGCAGGGGCAAGGTGAACCCGTGGGGCGGTTACAAAACAACTTGAACCTTTTGGCTTTTGAAGCATGTGTGAGGGTTTGCGTGGGGCTCCTTTCTGGGGAACGTGCCACTTCCCTTGGACTAGAACCTCACTAGCTTGGTTTTCAAAACCTCCTGCAAAGGCAATGTATGCTAAAGGATGACATCTATCTGGAAATGCAAACGGTTCGCATCAATTCAAGGCTTCACAAACTACCACAGCTCCCCACTGGCTTCAGAGAAGTTCAAACACCTTAGCAAAATTATGTGGATATTTGTAATGCCGCTGCTTCCCACCCCTGCACCCTCGCCCCAAGCTCCACCTCATTACTCAGTGCTAAAAGCAAAGTAAGTTAATATTATAACATACCCCTTCATTTCACTTCCTCAGCTCCTCACGACTGTTCCCCTAGTCCTCCTTATCCCATTCCCTGTCTCCTTCATTTCCCCAACTAGTTAACTTCAGTGCCCTTTCTAAGATAAAGGGGGTATGACCTCAAATTCAGGCTTAAAGCCCTTTCCACCATTGAAAGGTTATTAAATTCTGCTCCTCTCCCCTCCTGCAGCACCTAGTAATTAGCGCAGCCTGTCTCACAGAAGGTGCTCAGTAAATGAATGAAAAAAACGAACACACGCCCTGGAAACTTCAGTGTGCACGTACAACTCAATCCACGCATGCGCGGAGGCAGAGCCCCAGGACCGCGAGACTATCCGCACAGCTTCTCCTCAGGCCCCACAGCTAGAACCCCAAATCGCCTAGTCCCAACCCATGCACTCTCTAATCGGCGCCACACGACGGGCCTTCCCCACAACCTCATCTGCTTGGGGACGTAAAGGGCTCTGTGGGGGAGCTGCAGCTTTCGTGCCCATCTGTTAAAGGCCAGAACTTCCCATCTCTGAAATGCGGGAGGGAACAGAGCTCAAGCTTGAATAACTGAGCGCGGCCCGGCAGTCCCCCAAGTGAAGGTGCTAGCGCTAGAGCAGCGGCAGGGCGGGGAGCGGGAGGCCGGGCCCCAGGGAACCGCGGGGCGCGCCCGGCGCCGCATTACCTCTCCAGGGCCTGTAGGGTGTAGCTGATGAGCGGCCTCTCCAGGATGGGGCAGAATTGCTTCGGGGTGGGGACCCCCATCCTCTCCCCGCACCCCCCGGCAGGCAACACAGCTGCCACGGCTTGCGGGTGGCGCCCGGGCTCGGTCCCGGCCACGCTCTGCAGGGAGGCGGAAGCCGTGTGGTCCGCGCCGCGCTGACCACTCAGGCAAGGACCCGGCTCCGCCGGCCTGGCGCTGCCCGGCGGCCCGGCCTCCAAGGCTGCGGGCGGAACGGCGAGCCCCGCTAGCCTCGGGCCGATGCGACCCCGCGCTGCTCCCACCCTCGGCCGGGGTCGCGGGGCGAAGGGCAGACCACGGAGAGGGACGCAGAGCGCGCAAGCAGAAGGCGCCCCCCTCAGCCGTCGGAGCCCCGCTGTTGCTGCCCCGCAGGGGACGATCCCGACAGCTACGGCAGCAGCTGAGGCTGCCGATCTGCCCTCGCGGCTCGGCTGCGGCCTCCGCACCCGGTCCCAGCGCCTGCGGGAGGGCTGACTTGCCCGCTCTGCGCTTCCCCCGGGCAGGCCCAGCTGTCGCCGCAAGTGGAAATGTCAGAACGCCCTACATATCTAAAGATCGCAGATACTCAAGGGCCATGAGTATGCAGGAGAGGTCAGGCCTCTGTCCCATCCCTCCCTGCTTTAAAATTTCGGAAGAGATTGGGATTCAAGTCACAGGATGGGACGTAGGGTGCGTATGCACCTCGATTATCTGAATTCCATTAAGCTCTGGAGGCTTCCTGGTTCCACCTGGGGTAAAGACAGATGGATTAGCAAGTGTTATTGTGGCACATCAATAATCCAAACTGTGGTGGCTCTCAAACTTGTCTGCACTTTGGAACCACCTGGGGAGCGTGTCCTGACACGCTCAGAGATTGGGATTTAATTGGTCTGGTGAGCACCGGACTTTGGAATGTTTTTAAAGATCCTCGGGTGATTCTGATGAGCAGGCATGTTTTGGAACCATAGGGTCAAAGCAATACTAATTGCTGAACAATCGATACACCTTATGTCATTTAGTCCCCAGAAGAACTCAACTATTGCCATTTCCCTTTTTACAAAGGGGAAAAGACGTTAAAATGGTTAATTTATGTAAGATTGCACAACTAATGGCAGAGGAGCCTTAAGGCCCTCATACAGAAGTAGGCCAAAGTTGAAGAATTCCAGGCCTAAAGCATATCTTACCTTATTTAGTACTCTTGTTGCTGGTGAGGTTTACCATGAAAGTATAGTGAGAATTTGGAGGAGAGCACTATTGTATTAGGTCCCTGGAATGTAAACTCCATGCAAGCAGCAACATTTTTCTTTTGGCTTGGGTTGTGTGTGTGTGCCCAGCTCCTGGAATGTAACACAAGCTTAATATGTATTGAATGAATTGCTGATTAAATAGATTAATGATCATTAAAGTGTATAATCATCAGTAATTCAGTCTTAATCCAGTGGCTTATGATTAATAAAAAATAATCTTTTTAAACACTGGAAATGTTATCTAGTTGTAGTATTACAATTTTTATTTTTACCTGTTTTCTTGAGAGCATATAAAAATATGTTTTCTGCTTTTCCTTTTTGTTTAGTCTTATTGAAGGCATTCTTTCACTTTTGTTACTTTTATTATAATTAGCATTTAGGTCCTGTGCTAGTTGGTTTCTTAACTGAAAAGTGGGTGCCATAATATACTTCCTTGTAATTTTTATTGCTATCGTTCCTTTCTAATTTGATCTCGAGGTCTCTCTCTTACGAGTGGCCATAAGCCAGAACAGCCACTCTTCAGGAGAGCCCTGGCCCAGAGAGGAAAGCTAGGTTCTGGTGTGCAGGTGAGACGCCAGAGGAGGCAGCACACAAAACATGTGAAATAACAGGCGCATTTTATTACTTACAGATTCACCAGAGAATAAGCCTGATGGAAGTCTGGAGATAACAGGACTCCCAACCAGCAGGTGGGGTGCAAGAGAGAGGACCTGTGGGGCTGTGTTAAGGTCCAAAGGCTTTATCCCTTAGGCTTTCCAGAGGGGGTTGTGGATTGACTAGTTTAAAGAAAACACCAGCAAAGGGAGAACTTGACTCTGGTGTTGACCATTGGGTTTTATCATGGTTAGCAGCTGTTGGGTTTTTGGTCATGGAATGAGGAATAAGTGTTCTATATCACAGGGAGGGGAAGTTTTAAGTAGGCCACAGGTGACGTGATACAACTGGGTTTCAAACAGCTTATATCAGGCCTAAAAATGGATGCCCAGGCAGCAACTATATTAAACAAGTTTGGCACAATACT
Task1_train_10996
This mutation occurs in AGR2 (anterior gradient 2, protein disulphide isomerase family member) on Chromosome 7. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Respiratory infections, recurrent, and failure to thrive with or without diarrhea
TTTCTTCATGTTGTCAAGCACTAATGGGGGATAAAAGCAGGAGAGTCAAGACACCATCGTGCGTTATATCGATATAATAAACCCCAAACTTGGATGCTCAATTCATTATTTAATGGGATGCTTTTTTTTTTGAGACAAGGTCTCACTCCCACTCAGGCTGGCATGCAGTGGTGCAATCTCCACTCAGTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTTCAGCCTTAGCCTCCTGAGTAGCTGGGATTAGAGGTGTGCTCCACCATGCCCAGCTAATTTTTGTATTTTTGGGAGAGATGGGGTTTTGGTATGCTGGCCAGGCTGGTCTCGAACTCCTGAGCTCAAGTGATCCACACACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTGATAGGATGCTTTTTATCATGAGGTGAATAGTTGGTAATCTTATTGTAATTTAAAAAAATTATATGAAATGGCTTTTGTGACAATCTAGTTTTCTAGTGTAGTCATTCCTTCCCAGATCCTTCATCTCCAACCCTCACTTCCAAAAGAATCCTTTTATAAGCTCTAGCAGCAGAAGATAATTTTGGCTCATTTAGAAGTAAATTTAAATCATGTTTAAAAGAAATGTCTATTAGTAGGTGTGTGTAAATTGTTTTAGAAGTAGGGGAAATATAAATAATAGCAAACCAAGTGCTTTATGCAGATGAATTCTTTAATCCTCATACAAACACGATTAGAACTTTATATATACATAATGAAACAGGCAGAGAGAGGCTGAGTAGCTTGCTCAAGGTCACACAGCTAACAAGTAATGGAGCTACTGTTCCAGAGCCCAAACTCTGGGTCACTGTTTCTTCAACAGCAATTCATCAAAATGAGGTATGTGATCTACTAAAAATAAGATGTCCACTCGATAGGCATTGAACAGCCGCTTATTCACTCTTCCTACAAATCTTAATTATTAAGTGCCTGTTCTACAAGGGATTGTGATATTACTTGTGTAGGACACGTGCCTTTTAAGAGCTTAGTCTTATTAAAATGTATGGTATTATCTCAGTAATGGCTGACAGTACTTGGAATGTGCTTCCCCTGGTCCAGCACACACTGGAAACATTGCTAATGGACCATGATGATCTCTCCTGCTTCCTAGACACGGCCTCACTTCTCTTCCCAACATGACGTTCTAAGTCAGCACTGGCCAATAGAAATTTCTGTGATGATGGAAATGTTCAGTGTCCGGGCATTGAGCACTTGGAATATGGCTAGTGTGACTGAAGGAATGAATTTCTAACTTTAACTTAAGTAGCAACATGTGGCAAATGGTTAACATATTGGACAGTGCAGTTCTAGGCAGCCACTACTAATTGATCAGAGTTGGTTCCTAGGATAAAACCCACTTTTCTTCCCAGAGGACTAATCAGATGTCACAGCTAGCTACAGCGTTGCATTGAGGTACCTCATCTGCCTTAAGTCAGTGTCTCTCTCTCTCTCTGTCTCTCTTCCATTGATGGCAACCATAGGGAAGGTAATTTTCTTGGCAATCATTTGGATCATCTTTGAAACTGATCTTTAAACTGAACCTGAATTTAATTTTAAGCTGGACTGCACATTCTTTCACTTTTGTTATTTAAAAAATTAAGACATGCAGATTATTACAATTATTACACTCAGTTCTGTGATAGAAGGAGTGTGTGCTCGTGTACCTAACAGAAAACCTGAAAATCAGGTAATGTGGTCATAGAATCCTCCTAGAGAAAAAGATACCTAATCTAAATAATTCATCTTCAATTGAGATTAAAAACAAACAAACCTGAGATGGAAAGAGTGTGATTTGCCTGAAGATGCAAGGCTAGTTAGGGTCAAACTGAGTCCGAGGCGTCCCTAAGCCTAGCTCTCTCTCACCTCACCATGCAGCCTCTAGTCCCATCACTACAGCAATAGAGGTGTTCAACTCTTGGGCAACATCCGAATTGAAGGTCACACTTACACAGAGCTGTATCTGCAGGTTCGTAAGCATAGAGACGATTTGAATATCTTCCAGTGATATCGGCTCTAACTGTCAGAGATGGGTCTGCAAAGATAAATGAAGCAAAAGGGAATGGAATGGTTTGTTTTCAAACAACCTGTATTTATTGCCCCGGGGAGCTGAAGTTCATGTATTCATGTCCTGTGAGGGAATGGAGTGTGTCTGCACTCACAGGAGCTCTGATCCATCCACTCTACTACCCAGCCCCTGGCAGTTAGTAGCAAATGCAGGGCTGGAAACATCAACAGCTGTGCAGTGCTATTTGTGGAAAAGGTTATGAACCCTTCTGTTCTATCTATGGCAACCTGAAAACAGAATAATATATATTTAGGGGTGACATGGTGTTTTTTTTTTTTTTGGTGAAAACATTAACATTCTCTACTGCAAAATTATTTTAAATTCTTGAAACGATTATGTTGTAGTTTACATGTTTCTAGATCATTGGAAACCCACATCCAATGCTAGTTTTCAAAACGAGTTTTTTAAAAAAAGTTAATAGAGGAATGCAAGTCCTTAACAACAGCAAAGTTCAAATAAGCATATAGTACCTTCACTATATTTTACTTTATTGTTAATTAACTGCATTTTTAAAAGTAGAGATTGGTCTTCTCTTATGTATACTTATATCCCTCTAAATTTAAATCCATCTTGCCATGTTTTGTATTTAACTTGAAGTGATCTAATTAATGAGAAAAAGAGGTATTTTAAAATTAAGGTGCATCCAAAAGGGAAGCGTGAGGATACAGAGAGATCTGGAAACCTTGCCTTGAGAGACGTAATCGAAAGAACCTAGGACACGTGCCCTGAAAATGAGACAAGGAAGACATGTGAGAACCATCTGCATGTTTGCAAAGTCTGTCGCTGGTACTGGAGTGGGCAATCTGTCATTTCAGAATGTTGGACTAAGGCCAGACACATAAATTACAAGAAGCAGATGTACATTTATTCACCAGATTTAAGACCAACTATACTTCTGTTTGGTGCAGAGGATACAAAGACACGGTCTAATCTTTGTAAGAAATTAACCTAAGAAGGGCTTTTTAAATACCCAACTAGCAGCTCACCTGGCTGCACATTGGAATCATCTGGAGAGCTGTAAACACTATGGATGCCTGCCTCCCACCCCCAGAGATTCTGATTTAATTGGTTTGAGGTGTGGCCTGGGCAACTTGATCTTTAAAATCCTCCAGGTGATTCAAACATGTAGTCAGGGTGGCTACTACGGAGCTAGAAGAGCAAGCTGCCTTGGAGCTGGTTCTTAGGACTGAAGGAATTGAATGTGGGTTAAAATGCCCTTCCACAGGGATGCTGTACAAAGAATTCCTGTACAAGGTATGAACAGACATCTATAAATTCCCTTTTAATGTTAGGATTCCAAATGTCCTAAATTCTGACAAAACTAAACCTATAAAATTAGTGCTTTAGTTCAGCCTTCTTCCTTTTTTTCTATTTCTTGTTTTTCTTTTCCCTGCTTTGTACATTCAGTGTAAACTTTTAATGAATTACACAGGTGAATCATATGATTAGCATGAATTGTTGTAAGTGATGGATTTCATTATGGATTGTCCTTAAATCAGTATGACTTTGAACAAAGCCAAACTCAGTACATTCATTCAATAATTAAACACATATTGATGGAGAGCCTACTGCAGGGTCACGTTGGGAATATCATGGTGAGCAGAAATAGGTACAGTCCCTGCCATAGGGGCTTATAGTCCAATGTGGGAAATATTTATTACATAACCACCCCCAAACTGCAAAATTATACCTGAGGAAAGTATGACTACAAGAGCACATAGTAGGGATTTGACTCGGTCAATGAATAATGATGATTGGGGAGTTAATGATGTGAAATTGGGGGACAGAGAAGGAAGTGGGGAAAGCATATGAAAAGTACCAGTGGCAGGAAGGAGCATGTGGCTCCTTTCATTTCTTTTTCCCACCTCATATTCCTTTTTTTTTTTTGAGACAGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCAATTCTTGT
TTTCTTCATGTTGTCAAGCACTAATGGGGGATAAAAGCAGGAGAGTCAAGACACCATCGTGCGTTATATCGATATAATAAACCCCAAACTTGGATGCTCAATTCATTATTTAATGGGATGCTTTTTTTTTTGAGACAAGGTCTCACTCCCACTCAGGCTGGCATGCAGTGGTGCAATCTCCACTCAGTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTTCAGCCTTAGCCTCCTGAGTAGCTGGGATTAGAGGTGTGCTCCACCATGCCCAGCTAATTTTTGTATTTTTGGGAGAGATGGGGTTTTGGTATGCTGGCCAGGCTGGTCTCGAACTCCTGAGCTCAAGTGATCCACACACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTGATAGGATGCTTTTTATCATGAGGTGAATAGTTGGTAATCTTATTGTAATTTAAAAAAATTATATGAAATGGCTTTTGTGACAATCTAGTTTTCTAGTGTAGTCATTCCTTCCCAGATCCTTCATCTCCAACCCTCACTTCCAAAAGAATCCTTTTATAAGCTCTAGCAGCAGAAGATAATTTTGGCTCATTTAGAAGTAAATTTAAATCATGTTTAAAAGAAATGTCTATTAGTAGGTGTGTGTAAATTGTTTTAGAAGTAGGGGAAATATAAATAATAGCAAACCAAGTGCTTTATGCAGATGAATTCTTTAATCCTCATACAAACACGATTAGAACTTTATATATACATAATGAAACAGGCAGAGAGAGGCTGAGTAGCTTGCTCAAGGTCACACAGCTAACAAGTAATGGAGCTACTGTTCCAGAGCCCAAACTCTGGGTCACTGTTTCTTCAACAGCAATTCATCAAAATGAGGTATGTGATCTACTAAAAATAAGATGTCCACTCGATAGGCATTGAACAGCCGCTTATTCACTCTTCCTACAAATCTTAATTATTAAGTGCCTGTTCTACAAGGGATTGTGATATTACTTGTGTAGGACACGTGCCTTTTAAGAGCTTAGTCTTATTAAAATGTATGGTATTATCTCAGTAATGGCTGACAGTACTTGGAATGTGCTTCCCCTGGTCCAGCACACACTGGAAACATTGCTAATGGACCATGATGATCTCTCCTGCTTCCTAGACACGGCCTCACTTCTCTTCCCAACATGACGTTCTAAGTCAGCACTGGCCAATAGAAATTTCTGTGATGATGGAAATGTTCAGTGTCCGGGCATTGAGCACTTGGAATATGGCTAGTGTGACTGAAGGAATGAATTTCTAACTTTAACTTAAGTAGCAACATGTGGCAAATGGTTAACATATTGGACAGTGCAGTTCTAGGCAGCCACTACTAATTGATCAGAGTTGGTTCCTAGGATAAAACCCACTTTTCTTCCCAGAGGACTAATCAGATGTCACAGCTAGCTACAGCGTTGCATTGAGGTACCTCATCTGCCTTAAGTCAGTGTCTCTCTCTCTCTCTGTCTCTCTTCCATTGATGGCAACCATAGGGAAGGTAATTTTCTTGGCAATCATTTGGATCATCTTTGAAACTGATCTTTAAACTGAACCTGAATTTAATTTTAAGCTGGACTGCACATTCTTTCACTTTTGTTATTTAAAAAATTAAGACATGCAGATTATTACAATTATTACACTCAGTTCTGTGATAGAAGGAGTGTGTGCTCGTGTACCTAACAGAAAACCTGAAAATCAGGTAATGTGGTCATAGAATCCTCCTAGAGAAAAAGATACCTAATCTAAATAATTCATCTTCAATTGAGATTAAAAACAAACAAACCTGAGATGGAAAGAGTGTGATTTGCCTGAAGATGCAAGGCTAGTTAGGGTCAAACTGAGTCCGAGGCGTCCCTAAGCCTAGCTCTCTCTCACCTCACCATGCAGCCTCTAGTCCCATCACTACAGCAATAGAGGTGTTCAACTCTTGGGCAACATCCGAATTGAAGGTCACACTTACACAGAGCTGTATCTGCAGGTTCGTAAGCATAGAGACGATTTGAATATCTTTCAGTGATATCGGCTCTAACTGTCAGAGATGGGTCTGCAAAGATAAATGAAGCAAAAGGGAATGGAATGGTTTGTTTTCAAACAACCTGTATTTATTGCCCCGGGGAGCTGAAGTTCATGTATTCATGTCCTGTGAGGGAATGGAGTGTGTCTGCACTCACAGGAGCTCTGATCCATCCACTCTACTACCCAGCCCCTGGCAGTTAGTAGCAAATGCAGGGCTGGAAACATCAACAGCTGTGCAGTGCTATTTGTGGAAAAGGTTATGAACCCTTCTGTTCTATCTATGGCAACCTGAAAACAGAATAATATATATTTAGGGGTGACATGGTGTTTTTTTTTTTTTTGGTGAAAACATTAACATTCTCTACTGCAAAATTATTTTAAATTCTTGAAACGATTATGTTGTAGTTTACATGTTTCTAGATCATTGGAAACCCACATCCAATGCTAGTTTTCAAAACGAGTTTTTTAAAAAAAGTTAATAGAGGAATGCAAGTCCTTAACAACAGCAAAGTTCAAATAAGCATATAGTACCTTCACTATATTTTACTTTATTGTTAATTAACTGCATTTTTAAAAGTAGAGATTGGTCTTCTCTTATGTATACTTATATCCCTCTAAATTTAAATCCATCTTGCCATGTTTTGTATTTAACTTGAAGTGATCTAATTAATGAGAAAAAGAGGTATTTTAAAATTAAGGTGCATCCAAAAGGGAAGCGTGAGGATACAGAGAGATCTGGAAACCTTGCCTTGAGAGACGTAATCGAAAGAACCTAGGACACGTGCCCTGAAAATGAGACAAGGAAGACATGTGAGAACCATCTGCATGTTTGCAAAGTCTGTCGCTGGTACTGGAGTGGGCAATCTGTCATTTCAGAATGTTGGACTAAGGCCAGACACATAAATTACAAGAAGCAGATGTACATTTATTCACCAGATTTAAGACCAACTATACTTCTGTTTGGTGCAGAGGATACAAAGACACGGTCTAATCTTTGTAAGAAATTAACCTAAGAAGGGCTTTTTAAATACCCAACTAGCAGCTCACCTGGCTGCACATTGGAATCATCTGGAGAGCTGTAAACACTATGGATGCCTGCCTCCCACCCCCAGAGATTCTGATTTAATTGGTTTGAGGTGTGGCCTGGGCAACTTGATCTTTAAAATCCTCCAGGTGATTCAAACATGTAGTCAGGGTGGCTACTACGGAGCTAGAAGAGCAAGCTGCCTTGGAGCTGGTTCTTAGGACTGAAGGAATTGAATGTGGGTTAAAATGCCCTTCCACAGGGATGCTGTACAAAGAATTCCTGTACAAGGTATGAACAGACATCTATAAATTCCCTTTTAATGTTAGGATTCCAAATGTCCTAAATTCTGACAAAACTAAACCTATAAAATTAGTGCTTTAGTTCAGCCTTCTTCCTTTTTTTCTATTTCTTGTTTTTCTTTTCCCTGCTTTGTACATTCAGTGTAAACTTTTAATGAATTACACAGGTGAATCATATGATTAGCATGAATTGTTGTAAGTGATGGATTTCATTATGGATTGTCCTTAAATCAGTATGACTTTGAACAAAGCCAAACTCAGTACATTCATTCAATAATTAAACACATATTGATGGAGAGCCTACTGCAGGGTCACGTTGGGAATATCATGGTGAGCAGAAATAGGTACAGTCCCTGCCATAGGGGCTTATAGTCCAATGTGGGAAATATTTATTACATAACCACCCCCAAACTGCAAAATTATACCTGAGGAAAGTATGACTACAAGAGCACATAGTAGGGATTTGACTCGGTCAATGAATAATGATGATTGGGGAGTTAATGATGTGAAATTGGGGGACAGAGAAGGAAGTGGGGAAAGCATATGAAAAGTACCAGTGGCAGGAAGGAGCATGTGGCTCCTTTCATTTCTTTTTCCCACCTCATATTCCTTTTTTTTTTTTGAGACAGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCAATTCTTGT
Task1_train_10997
This alteration occurs within gene AGR2 (anterior gradient 2, protein disulphide isomerase family member) located on Chromosome 7. Is it associated with a disease or is it a benign variant?
Pathogenic; Respiratory infections, recurrent, and failure to thrive with or without diarrhea
ATGTTTTGTATTTAACTTGAAGTGATCTAATTAATGAGAAAAAGAGGTATTTTAAAATTAAGGTGCATCCAAAAGGGAAGCGTGAGGATACAGAGAGATCTGGAAACCTTGCCTTGAGAGACGTAATCGAAAGAACCTAGGACACGTGCCCTGAAAATGAGACAAGGAAGACATGTGAGAACCATCTGCATGTTTGCAAAGTCTGTCGCTGGTACTGGAGTGGGCAATCTGTCATTTCAGAATGTTGGACTAAGGCCAGACACATAAATTACAAGAAGCAGATGTACATTTATTCACCAGATTTAAGACCAACTATACTTCTGTTTGGTGCAGAGGATACAAAGACACGGTCTAATCTTTGTAAGAAATTAACCTAAGAAGGGCTTTTTAAATACCCAACTAGCAGCTCACCTGGCTGCACATTGGAATCATCTGGAGAGCTGTAAACACTATGGATGCCTGCCTCCCACCCCCAGAGATTCTGATTTAATTGGTTTGAGGTGTGGCCTGGGCAACTTGATCTTTAAAATCCTCCAGGTGATTCAAACATGTAGTCAGGGTGGCTACTACGGAGCTAGAAGAGCAAGCTGCCTTGGAGCTGGTTCTTAGGACTGAAGGAATTGAATGTGGGTTAAAATGCCCTTCCACAGGGATGCTGTACAAAGAATTCCTGTACAAGGTATGAACAGACATCTATAAATTCCCTTTTAATGTTAGGATTCCAAATGTCCTAAATTCTGACAAAACTAAACCTATAAAATTAGTGCTTTAGTTCAGCCTTCTTCCTTTTTTTCTATTTCTTGTTTTTCTTTTCCCTGCTTTGTACATTCAGTGTAAACTTTTAATGAATTACACAGGTGAATCATATGATTAGCATGAATTGTTGTAAGTGATGGATTTCATTATGGATTGTCCTTAAATCAGTATGACTTTGAACAAAGCCAAACTCAGTACATTCATTCAATAATTAAACACATATTGATGGAGAGCCTACTGCAGGGTCACGTTGGGAATATCATGGTGAGCAGAAATAGGTACAGTCCCTGCCATAGGGGCTTATAGTCCAATGTGGGAAATATTTATTACATAACCACCCCCAAACTGCAAAATTATACCTGAGGAAAGTATGACTACAAGAGCACATAGTAGGGATTTGACTCGGTCAATGAATAATGATGATTGGGGAGTTAATGATGTGAAATTGGGGGACAGAGAAGGAAGTGGGGAAAGCATATGAAAAGTACCAGTGGCAGGAAGGAGCATGTGGCTCCTTTCATTTCTTTTTCCCACCTCATATTCCTTTTTTTTTTTTGAGACAGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCTCCTGCAACCACGCCTGGCTAATTTTTTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTTTGGAGCTCCTGACCTCAAGTGATCTGCCGGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCCAGCCTTATTCCTAACTTTCTTAAAAATAATGATAAAAAATGTCAGAAAAATCTAACACACAAAGTGAAAGTTTGCTGGATTAAAAAATAAATATTTGCAGGCCTCTCGTATTCAGGAAATTTATCAATATGTTTAAATAGTGAATAGGGTGCTTTGTTCTCAGAAGTATTATAGCAGAAGATGAAAAGTTACAATTAGCATGTGAGAAAAGAAAGTGTTGTGTGGAAATAGGTAAAAGCTCACATTTTCTAAAGAAAATATGTTGCGGAACTTAAAGGAATGTCATGCTCCTTGCTAGAGCTTAGTGATGACATTGGCCATGGCAACGTGGCAAGGGACAGTGGGGAGGAGAGAAGGAGGATGGCAGCACTAGTATGTGTTTCCGAGTTATCTCACTGTCACTTCCGCTTACCAACAAACATAATCCTGGGGACATACTGGCCATCAGGAGAAAGGTGTTTGTCAGTTGTTTCATACTAAAATAAAAAGAAAAGCATCTTTTAGTTTACTTTGACTTTTCAGTCGTTTTCAAACTTGTTAATACAAGAATCTGTCCATTTCCGGCCAGGCATCTCAAGATATCATAACTCTTCCACACAGAGTTTATTGTACAGATGAGGAGACAAGTTACAAGCATGAAATAATAAATAAGATAGAGCAGAACATGAGATAAAGTGCTGAATGGATGTGATAAAGAGCAAAAAAATTAAGGGAGAATTTGGAAGGAGTTACTGTGTTTGGGGAAGACATCTGGGATGAAATAAGAGGCTATTAAGGAAAAAAGCAGATGTCATTTCTAGAGAAATTACGGAGACAAGTACGGGATTTTCTTGAGTATTCATTTATCCATTTATCAATTTTTATTTAGAACTGTATTTAGCAAGGCATGGTGCTTATCTTTAATGAATGCACACTCTATTGAGAGATACAGGTAGGAAAATGAATATTGAGGATGCAGTGGGTGAAATGTTACGGTGTAGGATATGCAGGTTTGGTGATTGCCTTGAGCAAGACATTTAGCCCAGAATGCAGATTCCACCCCGACTAGGACTTTCTGAAGTGGATAAGGAGGAATCTTTACAAATGAACAGGAGTCAGTTAGGTGGAAAAGAAAGACACTTCATGCAGGGGGAAGAGTATGGAGAGGACAGGTGGAGCATTTTCTCCTATGGCCAAGTGCTGGGGAAGGACTGAGTTGGGGGGATGCACGAGGGCAGTGGCGAAAGAAGGTGCTAGAGCTGCTTCAGGGGCCGGCTTAGGAATGACTTTGCACACCATGCCATAGTGTTTTCCTTTGTTCAGAAATAGTTAAGAACCACTGGAGGGATGTTAGAAGAGGCACTGTGACCCCAGTTTGGTCTGTAAAGCAACTTCTCTGACAGCCATGTGGGATTAGACAGAGTTTATCTTGTAGACCAGGAGCCATTTAGCAGTATTACAGTAAGCTAGGGAAAGTGAAAGAGGCTTACTAAAATAGTGGTCCTGAGTTTATAGAGAAGTGACTAGTAGCAGGAATACTTGGAATTTAGAAGCACAGGGCTTATTGCATGCTGTAGGTAAGTAGGAGAGTCCAATCTAGCACAGTACCACTTTCAGTAAAATAGGGAATAGAGAAAGAAGAGCTATTGGAAAAGCGCAAACCAAGATGATTAATGTGCAGTGAGGAACATACTGAGTTTAAGCTGATTATGAGATATCTGGAATATGGTTGGATAGACAATTTGGAAGTTGTTTCATGTTTGGGTAAGATGTAGGAATTATTAGTGTGTCGGAATTGATTAAAGGCAGTTGTAGATGGAGTTGTTCACTGAATACAAAATATGGAAAGAGAAAAGGGTCAAGTAGAGATTCATCATGTCACTCACATTAAGGAGTAGGAAGAGGAAGAGGAAGAGCCCATGGAAGAGAGGCAAGGAAGAACTACTGGTGCGAAGTGGTCTTTAAGGAAGCCAACCTGTGAAGAGGAAGGGCCGGAGGGCTCAAAAGGACATATGATTAGGTAGAGTCATTTTTTTGTTGGCTTGCTTTTAGAAGGAAAATGAAACATTTGTATACAGTAAAAAGAACTTGCCGAGACAGAAAGCTTGAGCACCGTGAGGGGTGGTAGTGGTGAAGTAAGGTGGGAATGCATGAAGCTAAAGCACAAGAGGCATGATTAGAGTTGGAAAGCCAGAGAGCTGTCTCTTCCCAAGAGATGACCAGGATTAAGAATGGGTGTAGAGAAGCCAGGACTATAGAGGGACAGGCACAGCAAGTAACAAAAACCTTCCAGCAACAGAAAAAATTCTGACTACGGGAGATAATTTTTCAGACAAACTAAGATGATTAATTACTAAATAAAAACAGACACACCAAATGGATTATTAATACAACGAAATATCTTTTTTCTCTCTAATTTATGAGATGGGATATTTGGAAGCAATCCCAGTTAATGCAGTATAACTAAGATGTATAGGAAAAATGAATCATCCATTTCAAGTAATGAGCCATAGAGAAATGTTAGTA
ATGTTTTGTATTTAACTTGAAGTGATCTAATTAATGAGAAAAAGAGGTATTTTAAAATTAAGGTGCATCCAAAAGGGAAGCGTGAGGATACAGAGAGATCTGGAAACCTTGCCTTGAGAGACGTAATCGAAAGAACCTAGGACACGTGCCCTGAAAATGAGACAAGGAAGACATGTGAGAACCATCTGCATGTTTGCAAAGTCTGTCGCTGGTACTGGAGTGGGCAATCTGTCATTTCAGAATGTTGGACTAAGGCCAGACACATAAATTACAAGAAGCAGATGTACATTTATTCACCAGATTTAAGACCAACTATACTTCTGTTTGGTGCAGAGGATACAAAGACACGGTCTAATCTTTGTAAGAAATTAACCTAAGAAGGGCTTTTTAAATACCCAACTAGCAGCTCACCTGGCTGCACATTGGAATCATCTGGAGAGCTGTAAACACTATGGATGCCTGCCTCCCACCCCCAGAGATTCTGATTTAATTGGTTTGAGGTGTGGCCTGGGCAACTTGATCTTTAAAATCCTCCAGGTGATTCAAACATGTAGTCAGGGTGGCTACTACGGAGCTAGAAGAGCAAGCTGCCTTGGAGCTGGTTCTTAGGACTGAAGGAATTGAATGTGGGTTAAAATGCCCTTCCACAGGGATGCTGTACAAAGAATTCCTGTACAAGGTATGAACAGACATCTATAAATTCCCTTTTAATGTTAGGATTCCAAATGTCCTAAATTCTGACAAAACTAAACCTATAAAATTAGTGCTTTAGTTCAGCCTTCTTCCTTTTTTTCTATTTCTTGTTTTTCTTTTCCCTGCTTTGTACATTCAGTGTAAACTTTTAATGAATTACACAGGTGAATCATATGATTAGCATGAATTGTTGTAAGTGATGGATTTCATTATGGATTGTCCTTAAATCAGTATGACTTTGAACAAAGCCAAACTCAGTACATTCATTCAATAATTAAACACATATTGATGGAGAGCCTACTGCAGGGTCACGTTGGGAATATCATGGTGAGCAGAAATAGGTACAGTCCCTGCCATAGGGGCTTATAGTCCAATGTGGGAAATATTTATTACATAACCACCCCCAAACTGCAAAATTATACCTGAGGAAAGTATGACTACAAGAGCACATAGTAGGGATTTGACTCGGTCAATGAATAATGATGATTGGGGAGTTAATGATGTGAAATTGGGGGACAGAGAAGGAAGTGGGGAAAGCATATGAAAAGTACCAGTGGCAGGAAGGAGCATGTGGCTCCTTTCATTTCTTTTTCCCACCTCATATTCCTTTTTTTTTTTTGAGACAGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCTCCTGCAACCACGCCTGGCTAATTTTTTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTTTGGAGCTCCTGACCTCAAGTGATCTGCCGGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCCAGCCTTATTCCTAACTTTCTTAAAAATAATGATAAAAAATGTCAGAAAAATCTAACACACAAAGTGAAAGTTTGCTGGATTAAAAAATAAATATTTGCAGGCCTCTCGTATTCAGGAAATTTATCAATATGTTTAAATAGTGAATAGGGTGCTTTGTTCTCAGAAGTATTATAGCAGAAGATGAAAAGTTACAATTAGCATGTGAGAAAAGAAAGTGTTGTGTGGAAATAGGTAAAAGCTCACATTTTCTAAAGAAAATATGTTGCGGAACTTAAAGGAATGTCATGCTCCTTGCTAGAGCTTAGTGATGACATTGGCCATGGCAACGTGGCAAGGGACAGTGGGGAGGAGAGAAGGAGGATGGCAGCACTAGTATGTGTTTCCGAGTTATCTCACTGTCACTTCCGCTTACCAACAAACATAATCCTGGGGACATACTGGCCATCAGGAGAAAGGTATTTGTCAGTTGTTTCATACTAAAATAAAAAGAAAAGCATCTTTTAGTTTACTTTGACTTTTCAGTCGTTTTCAAACTTGTTAATACAAGAATCTGTCCATTTCCGGCCAGGCATCTCAAGATATCATAACTCTTCCACACAGAGTTTATTGTACAGATGAGGAGACAAGTTACAAGCATGAAATAATAAATAAGATAGAGCAGAACATGAGATAAAGTGCTGAATGGATGTGATAAAGAGCAAAAAAATTAAGGGAGAATTTGGAAGGAGTTACTGTGTTTGGGGAAGACATCTGGGATGAAATAAGAGGCTATTAAGGAAAAAAGCAGATGTCATTTCTAGAGAAATTACGGAGACAAGTACGGGATTTTCTTGAGTATTCATTTATCCATTTATCAATTTTTATTTAGAACTGTATTTAGCAAGGCATGGTGCTTATCTTTAATGAATGCACACTCTATTGAGAGATACAGGTAGGAAAATGAATATTGAGGATGCAGTGGGTGAAATGTTACGGTGTAGGATATGCAGGTTTGGTGATTGCCTTGAGCAAGACATTTAGCCCAGAATGCAGATTCCACCCCGACTAGGACTTTCTGAAGTGGATAAGGAGGAATCTTTACAAATGAACAGGAGTCAGTTAGGTGGAAAAGAAAGACACTTCATGCAGGGGGAAGAGTATGGAGAGGACAGGTGGAGCATTTTCTCCTATGGCCAAGTGCTGGGGAAGGACTGAGTTGGGGGGATGCACGAGGGCAGTGGCGAAAGAAGGTGCTAGAGCTGCTTCAGGGGCCGGCTTAGGAATGACTTTGCACACCATGCCATAGTGTTTTCCTTTGTTCAGAAATAGTTAAGAACCACTGGAGGGATGTTAGAAGAGGCACTGTGACCCCAGTTTGGTCTGTAAAGCAACTTCTCTGACAGCCATGTGGGATTAGACAGAGTTTATCTTGTAGACCAGGAGCCATTTAGCAGTATTACAGTAAGCTAGGGAAAGTGAAAGAGGCTTACTAAAATAGTGGTCCTGAGTTTATAGAGAAGTGACTAGTAGCAGGAATACTTGGAATTTAGAAGCACAGGGCTTATTGCATGCTGTAGGTAAGTAGGAGAGTCCAATCTAGCACAGTACCACTTTCAGTAAAATAGGGAATAGAGAAAGAAGAGCTATTGGAAAAGCGCAAACCAAGATGATTAATGTGCAGTGAGGAACATACTGAGTTTAAGCTGATTATGAGATATCTGGAATATGGTTGGATAGACAATTTGGAAGTTGTTTCATGTTTGGGTAAGATGTAGGAATTATTAGTGTGTCGGAATTGATTAAAGGCAGTTGTAGATGGAGTTGTTCACTGAATACAAAATATGGAAAGAGAAAAGGGTCAAGTAGAGATTCATCATGTCACTCACATTAAGGAGTAGGAAGAGGAAGAGGAAGAGCCCATGGAAGAGAGGCAAGGAAGAACTACTGGTGCGAAGTGGTCTTTAAGGAAGCCAACCTGTGAAGAGGAAGGGCCGGAGGGCTCAAAAGGACATATGATTAGGTAGAGTCATTTTTTTGTTGGCTTGCTTTTAGAAGGAAAATGAAACATTTGTATACAGTAAAAAGAACTTGCCGAGACAGAAAGCTTGAGCACCGTGAGGGGTGGTAGTGGTGAAGTAAGGTGGGAATGCATGAAGCTAAAGCACAAGAGGCATGATTAGAGTTGGAAAGCCAGAGAGCTGTCTCTTCCCAAGAGATGACCAGGATTAAGAATGGGTGTAGAGAAGCCAGGACTATAGAGGGACAGGCACAGCAAGTAACAAAAACCTTCCAGCAACAGAAAAAATTCTGACTACGGGAGATAATTTTTCAGACAAACTAAGATGATTAATTACTAAATAAAAACAGACACACCAAATGGATTATTAATACAACGAAATATCTTTTTTCTCTCTAATTTATGAGATGGGATATTTGGAAGCAATCCCAGTTAATGCAGTATAACTAAGATGTATAGGAAAAATGAATCATCCATTTCAAGTAATGAGCCATAGAGAAATGTTAGTA
Task1_train_10998
The variant affects gene AGR2 (anterior gradient 2, protein disulphide isomerase family member), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Respiratory infections, recurrent, and failure to thrive with or without diarrhea
CGAAGTGGTCTTTAAGGAAGCCAACCTGTGAAGAGGAAGGGCCGGAGGGCTCAAAAGGACATATGATTAGGTAGAGTCATTTTTTTGTTGGCTTGCTTTTAGAAGGAAAATGAAACATTTGTATACAGTAAAAAGAACTTGCCGAGACAGAAAGCTTGAGCACCGTGAGGGGTGGTAGTGGTGAAGTAAGGTGGGAATGCATGAAGCTAAAGCACAAGAGGCATGATTAGAGTTGGAAAGCCAGAGAGCTGTCTCTTCCCAAGAGATGACCAGGATTAAGAATGGGTGTAGAGAAGCCAGGACTATAGAGGGACAGGCACAGCAAGTAACAAAAACCTTCCAGCAACAGAAAAAATTCTGACTACGGGAGATAATTTTTCAGACAAACTAAGATGATTAATTACTAAATAAAAACAGACACACCAAATGGATTATTAATACAACGAAATATCTTTTTTCTCTCTAATTTATGAGATGGGATATTTGGAAGCAATCCCAGTTAATGCAGTATAACTAAGATGTATAGGAAAAATGAATCATCCATTTCAAGTAATGAGCCATAGAGAAATGTTAGTAATGATGAAAAGGAAACTTACAACCAGATTGAGGAGGACAAACTGCTCTGCCAATTTCTGGATTTCTTTATTTTCAGCAAACACTTTCTTTAAAGCTATAATATAAAGAAAAATCATTAAGCATCCATCTTAGCATTGGTTAAAAGCTTTGTTCAATTTTCAGTTAAATTGCATTTTATTTACTTATTGAATTGCATTTTAAATACAGTATTCTACTTTGGCCTTTTAGCAAATGATTAGTGAAGTAATATCTATGGCATTGACTACCTCTGCTTTCTATTCACTCATTCATCCATTCATTCATCAATTCATTTTTTTCTCCAGCTCATATTTATTGAATGGCTGCCATGTGTTACGCACTGTGTTCTGTACTAGGGATGGTGCAGTGAACAAAAAAAAGCATGTGTTTTTTCACAGAGCTCACATACTTGTGTGGGAGACAAACCATAAACAAAGAAATAAGTAGATGATACTTTCAGGTAGAGATATGTACTTTGAAGAAAAATAAAGCAAAGCAAAGGGTTTAAAAACTGTGAGTGGTCAGGGCAGATCTTCCTGAGGAGCTAACGTTGAAGTGAGGGAGTGGTCCATTTTGGGGTAGGCCACTGTGGGCAGGGGGAACTGCAAAAGCACTAGCTGTGAGGTGGGAATGAGCTCACCTGTGGGAGGAACAGCACGAAGGCCAGGCTGGAGAGAGTGAAGAAAGCAAGAGGAGAGTGGTAGGAAGGGAGAGATAGCCATTGGCCTGATCATGTCAGCCTCATAGGTTGTGATCAGAAATTTGGATTTAGTTCTGTGATAAGAAGCCACTTGAGCACGTGAGTGATGGAATCTGATTTATGTCTACCAGCCTCACTCTGGCTTCTGTGTGGACTGGCTGTAGGGTGGCCAGTTAGGTGACTGTTATGGTAGTCTAGACAAGATCTGATCTGGGCTTGGACCAGGGCAGTAGCATGGAGGCAATAGGAAGTGGTTGGATTTGGGCCCAGTGCAAAATGAAAGGGTAGAGCCCCTTGTTGAAGAATTACTAAGACTTTTAAGACAATGATAGCCAAGTTTAAACCAAGTTTGGGAACCTTCTAAGCTTGGGGCCCTGTGAGATGGCACAGGCTTCATGCCTGTGAAGCTGGTGCTGGTTTAAGGATATATTTTGAAGATAAAGCCAGTATTTGCTGGTGTATTGAATGTGGACTGTAAGAGAAATCAAGAAGTTGAAGATGAATCCTAAAACTAGTTTTTCAAAATATGTACCAATGGTTATCACAAAATGTGGAGATATTTGAAGTCACTTTTAAATATGTTTTTACTATATAAAATATTCTTTCTTTAATGCAACTGTGGTTCTAAAGATACAAACATGAGTGATCTGAACCCTGGCCCTAAGGCTAAAAGCCTATAAAGGAAATCATACTTAGAAGAATAAATTACCTTGACTGTGTGGGCACTCATCCAAGTGATGAATAATCATCAAGGGTTTGTTGCTTTAAAAGACAGAGATTAGACAAATTTTAATGAGTAAGATTTCACATATATCTAGATGTCACTAGGTGGTGCTCTTGAGAGCTTTGAGGGAGCTCTGAGTAATCCTGATCTTTACCTTGTCTTGGATTTATATAGAGCTTCTTCATATGTCTGAGTCCAGATGAGTTGGTCACCCCAACCTAGAATGAAATGAATCAGTATATTTGAAGCTTGTATAAATTCAGACCCAAAGCTGTTGAAAAGCAATGGTAAAGACTGGGATAATAGACCCTATACTAAAGAAGAAGAAAAACCCCTGGAGAAAGTAGAAATAATTATAAACAGTGATAAGTCTAGAAGGAACACAACCAAAAATAACCTGGCACCAGGTTAGAACCAGGTTTAAGCACCAAGAGAGAGGAAATCTTTTCCAATTAAGTAGCAGTTGGAAGCCAACAAGAAGCTGACTCCTACCTCTGGAGAGGGTCTGGGGCAGTTTGGGTCGAGAGTCCTTTGTGTCCTTTTTGGCTCCAGGTTTGACTGTGGTATCTCTGGCCAGAGTGTAGGAGAGGGCCACAAGGAGCAAGAATGCTGACACTGGAATTTTCTCCATGGCAACTCTAGTATGGAAAACCAACCAAAATCAGTAAACAAAATTGAACTAGCAGTCTTCAGGGTCTGCAGGTTGCCCCACAACGGTGGAATATACCAGAAACTGAGGCTCTGCTGAGACTGGACATACGAGATTGGCGTAAATAGCTCTGTTCCATGGGATTTTCCTAAGAATACAGGTGGTCTTTGACTTACAATTGAGTAATGTTCCAATAAACCCATTGTAAACTGAAAATATTGCAAGTCAAAATGCATCCAGAGTAGTCTCTCCTTTCCCAGGGTTTTACTTTCTGCGGTTTCAGCTAACCACGGTCAACCGCGTCCAAAATAAGTGAGCACAGTGCAATAAGATATTTTGAGAGAGAGACCAAATTCACCTAACTTTTATTATAAGATACTGTTGTAATTGTTCTGTTTTATTATTAGCTCTTATTAATCTCTTATTGTGCTTAATTTATAATTTCAACTTTATCATAGATATGTATGCATAGGAAAAAACATAGCATATGTAGTGTTTGGTACTAATGTGCGGTTTCAGGCATCCACTGAGGGTCATGGACCATAACCCCCACAGATAATGGGGGAACTACCGTAATACACCTAACCCACTGAACACCACAGCTGAACCTACCGTAAATGTGCTCAGAACACTCACATTAGCCTAAAGTTGGGAAAAGCCATCCAACACAAAGCCCATTTTATAGTAAAGTGTTAAATATCTCAAGTAATTTTTATGAATACTCTATTGGAAGTAAAAACCAGAATGGTTATATGGATACTTGAAATACAGTTTCTACTGAATGTGTATTGCTTTTGCACCATCATAAAGTCAAAAAATTAAGTCAAACTTCTGTAAGTTGGGACTGTTTGTATATAGTATGGATAGCTGTCTATTGATCCACATAGATAAAGACAAAAAGATATAGATCTCTATAGATATAGAGTTATCTATATAGATATATATATCTATATAGAAATAGATAAATAGAGATATATTTTGAGAAAATAGATATACATACTCTAGTAGCTAAGAAAATTTACATTTACTTTTTTTGGAGACAAGGGCTCACTGTGTTGCCCAGGCTGGAGTACAGTGGCACAATCGTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATCCTCCCTCCTCAGCCTCCCAAGGAGCTGGGGCTACAGGCACGTGCCAGCATACTTGGCTATGCTTTTGTATTTTTTAGTAGAGATGGAGTTTTGTCATGCTGCCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCTCCTGCCTTGGCCTCCGAAAGTGCTGGGATTACAGGAGTGAGCCACCACGCCTAGCTGATATCTTAGTTAAATTACTTTTTCTTTCTGGTATGCCACAGTTGATTCCCAGGAAAAACTAAAGCCTATGAAAAGGAAAGTACATGGCAAGATAAGTTTTGTGAGTGA
CGAAGTGGTCTTTAAGGAAGCCAACCTGTGAAGAGGAAGGGCCGGAGGGCTCAAAAGGACATATGATTAGGTAGAGTCATTTTTTTGTTGGCTTGCTTTTAGAAGGAAAATGAAACATTTGTATACAGTAAAAAGAACTTGCCGAGACAGAAAGCTTGAGCACCGTGAGGGGTGGTAGTGGTGAAGTAAGGTGGGAATGCATGAAGCTAAAGCACAAGAGGCATGATTAGAGTTGGAAAGCCAGAGAGCTGTCTCTTCCCAAGAGATGACCAGGATTAAGAATGGGTGTAGAGAAGCCAGGACTATAGAGGGACAGGCACAGCAAGTAACAAAAACCTTCCAGCAACAGAAAAAATTCTGACTACGGGAGATAATTTTTCAGACAAACTAAGATGATTAATTACTAAATAAAAACAGACACACCAAATGGATTATTAATACAACGAAATATCTTTTTTCTCTCTAATTTATGAGATGGGATATTTGGAAGCAATCCCAGTTAATGCAGTATAACTAAGATGTATAGGAAAAATGAATCATCCATTTCAAGTAATGAGCCATAGAGAAATGTTAGTAATGATGAAAAGGAAACTTACAACCAGATTGAGGAGGACAAACTGCTCTGCCAATTTCTGGATTTCTTTATTTTCAGCAAACACTTTCTTTAAAGCTATAATATAAAGAAAAATCATTAAGCATCCATCTTAGCATTGGTTAAAAGCTTTGTTCAATTTTCAGTTAAATTGCATTTTATTTACTTATTGAATTGCATTTTAAATACAGTATTCTACTTTGGCCTTTTAGCAAATGATTAGTGAAGTAATATCTATGGCATTGACTACCTCTGCTTTCTATTCACTCATTCATCCATTCATTCATCAATTCATTTTTTTCTCCAGCTCATATTTATTGAATGGCTGCCATGTGTTACGCACTGTGTTCTGTACTAGGGATGGTGCAGTGAACAAAAAAAAGCATGTGTTTTTTCACAGAGCTCACATACTTGTGTGGGAGACAAACCATAAACAAAGAAATAAGTAGATGATACTTTCAGGTAGAGATATGTACTTTGAAGAAAAATAAAGCAAAGCAAAGGGTTTAAAAACTGTGAGTGGTCAGGGCAGATCTTCCTGAGGAGCTAACGTTGAAGTGAGGGAGTGGTCCATTTTGGGGTAGGCCACTGTGGGCAGGGGGAACTGCAAAAGCACTAGCTGTGAGGTGGGAATGAGCTCACCTGTGGGAGGAACAGCACGAAGGCCAGGCTGGAGAGAGTGAAGAAAGCAAGAGGAGAGTGGTAGGAAGGGAGAGATAGCCATTGGCCTGATCATGTCAGCCTCATAGGTTGTGATCAGAAATTTGGATTTAGTTCTGTGATAAGAAGCCACTTGAGCACGTGAGTGATGGAATCTGATTTATGTCTACCAGCCTCACTCTGGCTTCTGTGTGGACTGGCTGTAGGGTGGCCAGTTAGGTGACTGTTATGGTAGTCTAGACAAGATCTGATCTGGGCTTGGACCAGGGCAGTAGCATGGAGGCAATAGGAAGTGGTTGGATTTGGGCCCAGTGCAAAATGAAAGGGTAGAGCCCCTTGTTGAAGAATTACTAAGACTTTTAAGACAATGATAGCCAAGTTTAAACCAAGTTTGGGAACCTTCTAAGCTTGGGGCCCTGTGAGATGGCACAGGCTTCATGCCTGTGAAGCTGGTGCTGGTTTAAGGATATATTTTGAAGATAAAGCCAGTATTTGCTGGTGTATTGAATGTGGACTGTAAGAGAAATCAAGAAGTTGAAGATGAATCCTAAAACTAGTTTTTCAAAATATGTACCAATGGTTATCACAAAATGTGGAGATATTTGAAGTCACTTTTAAATATGTTTTTACTATATAAAATATTCTTTCTTTAATGCAACTGTGGTTCTAAAGATACAAACATGAGTGATCTGAACCCTGGCCCTAAGGCTAAAAGCCTATAAAGGAAATCATACTTAGAAGAATAAATTACCTTGACTGTGTGGGCACTCATCCAAGTGATGAATAATCATCAAGGTTTTGTTGCTTTAAAAGACAGAGATTAGACAAATTTTAATGAGTAAGATTTCACATATATCTAGATGTCACTAGGTGGTGCTCTTGAGAGCTTTGAGGGAGCTCTGAGTAATCCTGATCTTTACCTTGTCTTGGATTTATATAGAGCTTCTTCATATGTCTGAGTCCAGATGAGTTGGTCACCCCAACCTAGAATGAAATGAATCAGTATATTTGAAGCTTGTATAAATTCAGACCCAAAGCTGTTGAAAAGCAATGGTAAAGACTGGGATAATAGACCCTATACTAAAGAAGAAGAAAAACCCCTGGAGAAAGTAGAAATAATTATAAACAGTGATAAGTCTAGAAGGAACACAACCAAAAATAACCTGGCACCAGGTTAGAACCAGGTTTAAGCACCAAGAGAGAGGAAATCTTTTCCAATTAAGTAGCAGTTGGAAGCCAACAAGAAGCTGACTCCTACCTCTGGAGAGGGTCTGGGGCAGTTTGGGTCGAGAGTCCTTTGTGTCCTTTTTGGCTCCAGGTTTGACTGTGGTATCTCTGGCCAGAGTGTAGGAGAGGGCCACAAGGAGCAAGAATGCTGACACTGGAATTTTCTCCATGGCAACTCTAGTATGGAAAACCAACCAAAATCAGTAAACAAAATTGAACTAGCAGTCTTCAGGGTCTGCAGGTTGCCCCACAACGGTGGAATATACCAGAAACTGAGGCTCTGCTGAGACTGGACATACGAGATTGGCGTAAATAGCTCTGTTCCATGGGATTTTCCTAAGAATACAGGTGGTCTTTGACTTACAATTGAGTAATGTTCCAATAAACCCATTGTAAACTGAAAATATTGCAAGTCAAAATGCATCCAGAGTAGTCTCTCCTTTCCCAGGGTTTTACTTTCTGCGGTTTCAGCTAACCACGGTCAACCGCGTCCAAAATAAGTGAGCACAGTGCAATAAGATATTTTGAGAGAGAGACCAAATTCACCTAACTTTTATTATAAGATACTGTTGTAATTGTTCTGTTTTATTATTAGCTCTTATTAATCTCTTATTGTGCTTAATTTATAATTTCAACTTTATCATAGATATGTATGCATAGGAAAAAACATAGCATATGTAGTGTTTGGTACTAATGTGCGGTTTCAGGCATCCACTGAGGGTCATGGACCATAACCCCCACAGATAATGGGGGAACTACCGTAATACACCTAACCCACTGAACACCACAGCTGAACCTACCGTAAATGTGCTCAGAACACTCACATTAGCCTAAAGTTGGGAAAAGCCATCCAACACAAAGCCCATTTTATAGTAAAGTGTTAAATATCTCAAGTAATTTTTATGAATACTCTATTGGAAGTAAAAACCAGAATGGTTATATGGATACTTGAAATACAGTTTCTACTGAATGTGTATTGCTTTTGCACCATCATAAAGTCAAAAAATTAAGTCAAACTTCTGTAAGTTGGGACTGTTTGTATATAGTATGGATAGCTGTCTATTGATCCACATAGATAAAGACAAAAAGATATAGATCTCTATAGATATAGAGTTATCTATATAGATATATATATCTATATAGAAATAGATAAATAGAGATATATTTTGAGAAAATAGATATACATACTCTAGTAGCTAAGAAAATTTACATTTACTTTTTTTGGAGACAAGGGCTCACTGTGTTGCCCAGGCTGGAGTACAGTGGCACAATCGTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATCCTCCCTCCTCAGCCTCCCAAGGAGCTGGGGCTACAGGCACGTGCCAGCATACTTGGCTATGCTTTTGTATTTTTTAGTAGAGATGGAGTTTTGTCATGCTGCCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCTCCTGCCTTGGCCTCCGAAAGTGCTGGGATTACAGGAGTGAGCCACCACGCCTAGCTGATATCTTAGTTAAATTACTTTTTCTTTCTGGTATGCCACAGTTGATTCCCAGGAAAAACTAAAGCCTATGAAAAGGAAAGTACATGGCAAGATAAGTTTTGTGAGTGA
Task1_train_10999
A mutation on Chromosome 7 affecting LOC129998021, TWIST1 (ATAC-STARR-seq lymphoblastoid active region 25682| twist family bHLH transcription factor 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; TWIST1-related craniosynostosis
GTAGTATTTAAAACTGTGATTATTCCAACTGTGATTATATCCAGTTACCAAGGATACTGAAAGTTCAGGATCTTCATTTTTGTATATTATTCCACAGCCTTATATTCTTTACACATAAAAAAAGAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGAGATGAAGAGATGCTACTAAGCCCTCTGAATACCAAACTGGAATAATAATAAAGCTGTCTTTTAAAATAACATGCTTGTGCCTGTCAGTAGCTGCTTTATTTGAGTTTTTCATTGCTTTGTTTATATTAGTGCCCCCTCCCTCCTGGGTGCCTCTAGAATTAAACAAGCAGGTATTTACCACCAACTTAATCTTTAGTTTTAAAAATATAGACCAAACTCTAAGGTTCTCTAAATTTTTTATATTTATTTATTGCAGAAAAATATACAAAGATATTTACAAAACAATCATAAAAATATGAATGCATTTAGACACCGGATCTATTTGCATTTTACCATGGGTCCTCAATAAATAAATAGAATGTTGTTTTTTGTATTTTAAGTTTTTTTTTGTTTTTCCCCTCAGAGGAAGGATGAAAAAAAGAATTAACTGACTATGGTTTTGCAGGCCAGTTTGATCCCAGTATTTTTATTTCTAAAGGTGTTCTTATAGTTCCTCTGATTGTTACCATTTTAAAATAGAGAAAGTCCATAGTGATGCCTTTCCTTTCAGTGGCTGATTGGCACGACCTCTTGAGAATGCATGCATGAAAAAAATAAAAATAAAAACATTCTTCGTCAAAAAAAAAAAAAAAAAAAACACAAACAACTGTTCAGACTTCTATCAGAATGCAGAGGTGTGAGGATGGTGCCGCTGCCCGTCTGGGAATCACTGTCCACGGGCCTGTCTCGCTTTCTCTTTTAAAAGTGCGCCCCACGCCCTGTTTCTTTGAATTTGGATTTTGCTCTTCTAATTTCCAAGAAAATCTTTGGCATATATTTTTATTTTTAGTTATCCAGCTCCAGAGTCTCTAGACTGTCCATTTTCTCCTTCTCTGGAAACAATGACATCTGCAAAAACCCAGAGGGGGGGGGGGGAGTCGGTTATTGTTTAGGTCTCTGCGGCTGTTTTCTAAGACTAGTGAGCACTGTTCTTATCACCACCACTGAGAAATTAAGCTGAACAACCTGGAAGGATTTCAGCCCAAGGGCAAGAGGAAGTGGGTGGGTGGAAAGGAGGAGGAGGTGGAATTTGTTTTAAAACATTTGTTTTAAGGAGAACAAAAATTGAAAGCCGAAAGAAAGGGTGGCGCTGACAAAACGGTCCTTACCCGTGACCCTGGGTGTCTCTGTCTCCCCTCCTGTCACGCACACTCACGCGCACACACACCCCTCACCAGGGCGCATCCCCCTGGAGACTGCTCTCCCTAGCGGGGTCAGACCGGCCTTCCGGGGACGCTGGGGGCGCGAGGCAACGGTGCCAAGTGAGGTGGGAAGGCTGAGCGGAGAGTGGGAGAGGGGAGGAAATCGAGGTGGACTGGGAACCGCGGCCTGGCCGGCCTGCCGTCTGCCACCTGAGAGGCGAAGGGGTGCAGCGGCGCGGTCCTTACCTAGGTCTCCGGCCCTGCTGAGGGGGTGGGGGGCTCCGCCTGCTAGTGGGACGCGGACATGGACCAGGCCCCCTCCATCCTCCAGACCGAGAAGGCGTAGCTGAGCCGCTCGTGAGCCACATAGCTGCAGCTTGCCATCTTGGAGTCCAGCTCGTCGCTCTGGAGGACCTGGTAGAGGAAGTCGATGTACCTGGCCGCCAGCTTGAGGGTCTGAATCTTGCTCAGCTTGTCCGAGGGCAGCGTGGGGATGATCTTCCGCAGCGCGGCGAACGCCTCGTTCAGCGACTGGGTGCGCTGGCGCTCCCGCACGTTGGCCATGACCCGCTGCGTCTGCAGCTCCTCGTAAGACTGCGGACTCCCGCCGCCGCTGCTGCTGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCCACAGCCCGCAGACTTCTTGCCGCGCTTGCCCTGGGCCGGGCTGCCCGGCTCGTCGCCGCCTCCGACGCCCCCACCCGCGGCTCCGCCGGGCCCCGCGCCGCCGCCCGCGCTGCGCCTGCTGCTGCGCCGCTTGCGTCCCCCGCGCTTGCCGCTCGGCGGCTGCTGCCGGTCTGGCTCTTCCTCGCTGTTGCTCAGGCTGTCGTCGGCCGGCGAGACTGGCGAGCTGGACACGTCCTGCATCATCTCTCGAGCGGCGACGCGTGGCCTCGCGGGCCCGGGGCAGAGGAGAAGAGCGGGGCGCCTCAGCCCGCCAGCTTCCCCCGCGCGCGGCGCCGGCCCGGGCGATGCGGCCCGCGGAGGAGAGAGCAGGAGGACGGACGGGAGGGACCTCCGCGGGGAGGGCGCGCGGGGGAGGCGGGGAGGGAGGCGGGAGGGGGAGGGGACGGTGTGGATGGCCCCGAGGTCCAAAAAGAAAGCGCCCAACGGCTGGACGCACACCCCGCCAGGCCTCCTGGAAACGGTGCCGGTGCTGCAGAGCCCGCGAGGTGTCTGGGAGTTGGGCGAGAGCTGCAGACTTGGAGGCTCTTATACCTCCGTGCAGGCGGAAAGTTTGGGGGCAGCAGTGTCATTGGCCTGACGTGAGGAGGAGGGACTTTTCGAAGTTTTATAGGAAAGTTTCCGCTTTCCAGTCCCCCTCCCCCGTCCCACCTCCCTTCCTCGGGGTCTAACAATTCGTCCTCCCAAACCATTCAAAAACGACCTGGCCCGGGCGGCCGGCCCCTCCACCCGCCTCCTAGCCGCCCTCCCCCTTCCCTCCCCGTCGCCTTCCTCCGGCGGGCGCGGGGCGATTTCCTTCCCCGCCGGAGCGTGCGGGCAGCGCCCCCGAACCCTAGCGCAGCCCAGGAAGCGGTCGGAGGAGACTGTCCTGGCCGCGGTGGCAGCCCCATCCGGAGTGGCTGTGACAGCAGCAATGGCAACAGCTTCTACACAGTGGGTGATGTCTCATCTCGCCCAAGAGCCCTCTAGGTCCGTGGGGCCGATTTGGGATTGCTGGGGCTGGGGGGGTGGTGTGGCGCGGGGTGGGGGGGCATGCCAAGAAAAGTGTCAACCGCGGAGCCCACCCAATGGTCAGGTAGACGAACCCCTTGGAGTTCCAAAGGCCAAACCGCGGCGGCCCAGCCCGGAGGTCCTGGGCGTTTCTGAAGACGTGGCCGCGCCGCGGGGGCTGAGGATTTGCGTCCCGGCCTGCTCTCTCGCCCTTCTGGGCCCTCCTTTCCCCTCTACAACGACCCAGTCTGACGCTCCCCAACATCCAAAGGACTACGCCTCGGAAGGTGCTCGAAAGAGGCAGAAGTTCACTCTTCGGTGGAAGGAAACCCAGTCCATGGGAAAGGCAGCAGAGCCAGAGGGGGGCAGCGCAGCGCCTTTGCTGCGGCCCTAACAGCTGGCAATGCCAACCCAAGGGAGAGACCCTGTGGCCATTTCATCCCCACCCCCAAATTAGGCTCCGCATTGTGACCTTGAAAGGCCAGCTTGTAAGAGAGTGAAGTGGGAATTTGATAGCGCCTAGACATAGGGGCTGCCCGCTCTGAGACCCCCCCCGCCCCAGCCCCCACTATCTAGGGCATCCAGTGGACAATTAGGCTTCGTGAGCCCCAATTCCAAATGCTTGGATACGCTAACATTTTAAGCATTTCTGTCTGTAAGTTAAAACGAAGAGCCCCAAAGAGGGTGT
GTAGTATTTAAAACTGTGATTATTCCAACTGTGATTATATCCAGTTACCAAGGATACTGAAAGTTCAGGATCTTCATTTTTGTATATTATTCCACAGCCTTATATTCTTTACACATAAAAAAAGAATGATGCTTCCCAAATAGCGTCAATATAGCGATATATTAACTTTTCTTTTTAGCAAACATGACACTAAACGTCATATTCATTCATGAGAGAAGAGTTAAGCAAATTACAAATGGAATTTTCTCTTTTCTGCTGATTTACACTTTATTTTCTATGCATTTCTGGTCATTTCTATATGTGTATAGATAATTTTCATAACACTATATATGTTTTCACTGAAAAGAACCTGTTATTTAGGAATCTTCACAAAGAGTGAAGAGCATGACAAAAAGTACATAATAAGAGAATAGTGCAGGTTTTATACTCCTTATTTGCATTTAACTGTTTTAACAACTATCACCTCAAAATAAAAAGGAGGTGAATAGCAAATTTGTTAAGTTTTTGCTGTTTGGAGACAGTAAGAGATGAAGAGATGCTACTAAGCCCTCTGAATACCAAACTGGAATAATAATAAAGCTGTCTTTTAAAATAACATGCTTGTGCCTGTCAGTAGCTGCTTTATTTGAGTTTTTCATTGCTTTGTTTATATTAGTGCCCCCTCCCTCCTGGGTGCCTCTAGAATTAAACAAGCAGGTATTTACCACCAACTTAATCTTTAGTTTTAAAAATATAGACCAAACTCTAAGGTTCTCTAAATTTTTTATATTTATTTATTGCAGAAAAATATACAAAGATATTTACAAAACAATCATAAAAATATGAATGCATTTAGACACCGGATCTATTTGCATTTTACCATGGGTCCTCAATAAATAAATAGAATGTTGTTTTTTGTATTTTAAGTTTTTTTTTGTTTTTCCCCTCAGAGGAAGGATGAAAAAAAGAATTAACTGACTATGGTTTTGCAGGCCAGTTTGATCCCAGTATTTTTATTTCTAAAGGTGTTCTTATAGTTCCTCTGATTGTTACCATTTTAAAATAGAGAAAGTCCATAGTGATGCCTTTCCTTTCAGTGGCTGATTGGCACGACCTCTTGAGAATGCATGCATGAAAAAAATAAAAATAAAAACATTCTTCGTCAAAAAAAAAAAAAAAAAAAACACAAACAACTGTTCAGACTTCTATCAGAATGCAGAGGTGTGAGGATGGTGCCGCTGCCCGTCTGGGAATCACTGTCCACGGGCCTGTCTCGCTTTCTCTTTTAAAAGTGCGCCCCACGCCCTGTTTCTTTGAATTTGGATTTTGCTCTTCTAATTTCCAAGAAAATCTTTGGCATATATTTTTATTTTTAGTTATCCAGCTCCAGAGTCTCTAGACTGTCCATTTTCTCCTTCTCTGGAAACAATGACATCTGCAAAAACCCAGAGGGGGGGGGGGGAGTCGGTTATTGTTTAGGTCTCTGCGGCTGTTTTCTAAGACTAGTGAGCACTGTTCTTATCACCACCACTGAGAAATTAAGCTGAACAACCTGGAAGGATTTCAGCCCAAGGGCAAGAGGAAGTGGGTGGGTGGAAAGGAGGAGGAGGTGGAATTTGTTTTAAAACATTTGTTTTAAGGAGAACAAAAATTGAAAGCCGAAAGAAAGGGTGGCGCTGACAAAACGGTCCTTACCCGTGACCCTGGGTGTCTCTGTCTCCCCTCCTGTCACGCACACTCACGCGCACACACACCCCTCACCAGGGCGCATCCCCCTGGAGACTGCTCTCCCTAGCGGGGTCAGACCGGCCTTCCGGGGACGCTGGGGGCGCGAGGCAACGGTGCCAAGTGAGGTGGGAAGGCTGAGCGGAGAGTGGGAGAGGGGAGGAAATCGAGGTGGACTGGGAACCGCGGCCTGGCCGGCCTGCCGTCTGCCACCTGAGAGGCGAAGGGGTGCAGCGGCGCGGTCCTTACCTAGGTCTCCGGCCCTGCTGAGGGGGTGGGGGGCTCCGCCTGCTAGTGGGACGCGGACATGGACCAGGCCCCCTCCATCCTCCAGACCGAGAAGGTGTAGCTGAGCCGCTCGTGAGCCACATAGCTGCAGCTTGCCATCTTGGAGTCCAGCTCGTCGCTCTGGAGGACCTGGTAGAGGAAGTCGATGTACCTGGCCGCCAGCTTGAGGGTCTGAATCTTGCTCAGCTTGTCCGAGGGCAGCGTGGGGATGATCTTCCGCAGCGCGGCGAACGCCTCGTTCAGCGACTGGGTGCGCTGGCGCTCCCGCACGTTGGCCATGACCCGCTGCGTCTGCAGCTCCTCGTAAGACTGCGGACTCCCGCCGCCGCTGCTGCTGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCCACAGCCCGCAGACTTCTTGCCGCGCTTGCCCTGGGCCGGGCTGCCCGGCTCGTCGCCGCCTCCGACGCCCCCACCCGCGGCTCCGCCGGGCCCCGCGCCGCCGCCCGCGCTGCGCCTGCTGCTGCGCCGCTTGCGTCCCCCGCGCTTGCCGCTCGGCGGCTGCTGCCGGTCTGGCTCTTCCTCGCTGTTGCTCAGGCTGTCGTCGGCCGGCGAGACTGGCGAGCTGGACACGTCCTGCATCATCTCTCGAGCGGCGACGCGTGGCCTCGCGGGCCCGGGGCAGAGGAGAAGAGCGGGGCGCCTCAGCCCGCCAGCTTCCCCCGCGCGCGGCGCCGGCCCGGGCGATGCGGCCCGCGGAGGAGAGAGCAGGAGGACGGACGGGAGGGACCTCCGCGGGGAGGGCGCGCGGGGGAGGCGGGGAGGGAGGCGGGAGGGGGAGGGGACGGTGTGGATGGCCCCGAGGTCCAAAAAGAAAGCGCCCAACGGCTGGACGCACACCCCGCCAGGCCTCCTGGAAACGGTGCCGGTGCTGCAGAGCCCGCGAGGTGTCTGGGAGTTGGGCGAGAGCTGCAGACTTGGAGGCTCTTATACCTCCGTGCAGGCGGAAAGTTTGGGGGCAGCAGTGTCATTGGCCTGACGTGAGGAGGAGGGACTTTTCGAAGTTTTATAGGAAAGTTTCCGCTTTCCAGTCCCCCTCCCCCGTCCCACCTCCCTTCCTCGGGGTCTAACAATTCGTCCTCCCAAACCATTCAAAAACGACCTGGCCCGGGCGGCCGGCCCCTCCACCCGCCTCCTAGCCGCCCTCCCCCTTCCCTCCCCGTCGCCTTCCTCCGGCGGGCGCGGGGCGATTTCCTTCCCCGCCGGAGCGTGCGGGCAGCGCCCCCGAACCCTAGCGCAGCCCAGGAAGCGGTCGGAGGAGACTGTCCTGGCCGCGGTGGCAGCCCCATCCGGAGTGGCTGTGACAGCAGCAATGGCAACAGCTTCTACACAGTGGGTGATGTCTCATCTCGCCCAAGAGCCCTCTAGGTCCGTGGGGCCGATTTGGGATTGCTGGGGCTGGGGGGGTGGTGTGGCGCGGGGTGGGGGGGCATGCCAAGAAAAGTGTCAACCGCGGAGCCCACCCAATGGTCAGGTAGACGAACCCCTTGGAGTTCCAAAGGCCAAACCGCGGCGGCCCAGCCCGGAGGTCCTGGGCGTTTCTGAAGACGTGGCCGCGCCGCGGGGGCTGAGGATTTGCGTCCCGGCCTGCTCTCTCGCCCTTCTGGGCCCTCCTTTCCCCTCTACAACGACCCAGTCTGACGCTCCCCAACATCCAAAGGACTACGCCTCGGAAGGTGCTCGAAAGAGGCAGAAGTTCACTCTTCGGTGGAAGGAAACCCAGTCCATGGGAAAGGCAGCAGAGCCAGAGGGGGGCAGCGCAGCGCCTTTGCTGCGGCCCTAACAGCTGGCAATGCCAACCCAAGGGAGAGACCCTGTGGCCATTTCATCCCCACCCCCAAATTAGGCTCCGCATTGTGACCTTGAAAGGCCAGCTTGTAAGAGAGTGAAGTGGGAATTTGATAGCGCCTAGACATAGGGGCTGCCCGCTCTGAGACCCCCCCCGCCCCAGCCCCCACTATCTAGGGCATCCAGTGGACAATTAGGCTTCGTGAGCCCCAATTCCAAATGCTTGGATACGCTAACATTTTAAGCATTTCTGTCTGTAAGTTAAAACGAAGAGCCCCAAAGAGGGTGT