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_2800
This alteration in IBA57 (iron-sulfur cluster assembly factor IBA57) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Multiple mitochondrial dysfunctions syndrome 3
CAGTCCATACCTGCAATCAACCCCAGCCATGGAGGTGGCTGTACCCCAGGTGTCTCCACTTAGTGCCCCCCCCCCCGACATGCCCCACGCTGCCCAGCCTCTCCTCTTCCCACCATCCGTCTGGTCAGGGGTCATTCTTGTGGTGCCTGCCCAAATCCTCTGAGGAGGGCTGCCTGGAGTGCAGGTCAGAATGGCTCTGGGGCCCCGATTGGGTTCTGAGACTTGGCTTGGGGAGGCAGGTGGTGGGCATGGGCAGAGTGGGCCTCAGGCATGCTGTACCTCCCTGACAACCTCCTGGGCTCCTTGCTCCTCCCTCCTGCCCACCTTAGGACCCTTGGGCTCCTCGATGGCTTCCCTGGGCTGGAACAGGCAGGTCTGGTTCTCAGTGGCTGTGCACACCGTTCCCCTGCGGGGCCCTGCCCATCCCTGCTCCCACATCCAGCGGACTGTTGTCATTTCTGCCCTAGGCTCTGGGACTACTCCGGATGATGCCCTCGGGCAGGCTATTGCAGTTCTGCCAGTCCCTGGGCAAACAGGGTCTGTCTGCGCTGGCCCCTGTGAGCTCGTCTTTGCCTGCTTAGACGAGAGCTCCGGAGGCTCAGCTGCGCACGGCTGTGGGCAGGGCTTTCCATGCGCTGGTCCAGGTGTACCCTGCCTGGCCTGCTGTGCGTTGTCTGCACGCACCCTCGCATTGCTGTGGGCGCGGCACTCTGCGCTGGTCTCCAAGGTGCCCGCATCTAGCTGTGATGCGCGCCTTGGGAGGTGCTGCCTGGTGTGGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCCCTGCGTGTGGTGACCTGGGCGCTTGCCTTAAAGGCGCAGCCCCTTGTGGCTGAGGGCAGAGCTCTTTGCGTTGGTCCACGGTGTGCTCCTCTGCCCGGGTAAGGCGCGCTCCCTCATGCAGCCCTTTCTGGCCCACTCAGTTGGTGAGCTGCCATGCGCCCCTGCCTCTCTCCCTGCAGGCTCCAGGAACACTCGGAGGTGTCTGGCTTCCTTCTGGAGTGTGACAGCTCGGTGCAGGGCGCGCTGCAGAAGCACCTCGCGCTATACAGGATCCGGCGGAAGGTCACGGTGGAGCCGCACCCGGAGCTGCGAGTGTGGGCGGTGTTGCCCAGTTCCCCTGAGGCCTGCGGGGCTGCATCGCTGCAGGAGAGGGCAGGGGCTGCCGCCATCCTCATCCGCGACCCGCGAACAGCACGCATGGGGTGGCGGCTCCTCACCCAGGATGAAGGCCCAGCCCTGGTGCCCGGGGGCCGGCTCGGGGACTTGTGGGATTATCACCAGCACCGATACCTGCAAGGTATGGGTGGGGTGGGCACGCTGGGCTGGATTGCACGGGTGGAGCTGGACGATGTTCAATTCTCGCTGGTTTCCCCCCTCCAATCCCTGCAGGCGTTCCTGAGGGGGTCCGAGACTTGCCTCCTGGGGTGGCCCTGCCCCTGGAGTCCAACCTGGCCTTCATGAACGGCGTGAGCTTCACCAAAGGCTGCTACATTGGCCAGGAGCTGACGGCCCGCACCCACCACATGGGCGTCATCCGCAAGCGCCTCTTCCCTGTCCGGTTCTTGGACCCCCTTCCCACCAGTGGCATCACCCCTGGTGCCACGGTGCTGACTGCCTCAGGACAGACTGTGGGCAAGTTCAGGGCTGGCCAGGGCAACGTGGGGCTGGCCCTGCTGTGGTCAGAGAAGATCAAGGGTCCTCTGCACATCAGAGCCTCTGAGGGTGCCCAGGTGGCCTTAGCCGCATCTGTGCCAGACTGGTGGCCTACAGTCTCCAAGTAGTCCGAAGCCTTGGCTGGCGCAGGCTGATGGGGAGGCTGGGGCCTGGGGCCTTTGGCCTCTGTCCAGGGTCTTCCCGTCCCATCTGTCTGCTGCGCCTACTGGGTGGGAGCCCTGGTTTCCATCTGGGAAAGTCCCCCTTGTAGGTGCCCTGCCTGGCCCCACCCATGCTCAGGGGCCCCAGGCACGTGGGTTGTTTTCTCCCTGGACTTCCTGTGGCCCCAGAGGAGCCCACCGTGTGAGTGCTGGGCTCCAGATGGCGCCGGGTCCCAATCGTGGCTCCACACAGGGTTGTCTGGGAGGACGGGACGGTGTCTCTGGCCAGCACTGGCAGCTTCCGGGCCTTGTACCCCACTCTGCCTGGCATGAGCCTCATGGGGGGTTGGTCCCTGTGCCTGGAAGCGGGGTGGTGTCCAGGGTCTGCAGGCTGGGGCTCGGGCTTTGGGAGTTGTTTCACTGTGCTTGCTTCCAGCATGTCTCAGGGTGGGGCTATGCGTGGTCTAGAGGGGTCTGGGGCATTGGATCAGGTGGCATGTGGGTGTCTACACATCGAGAAGCACACAGGGATGAGCCACTAGGTATCCCATGCTGGAGGCTTGTGGAAGGCTGTGCCCATCTCCCATGTTTCCCCACCTCTGTTCCTCCTCAGAGCCCTCCAGGAGCGTGGGGTGGGGGCCAGCGCAGGGCTCAGGAGCCAGCAGGGCAGAGTTCTGCCTGTGTGTGCTGGGTTTTGGCATAGCCTGTGTTTGCAGTGAGAGTGACTTGCTGTCAGTCACGGGGCACAGCCTCCTGTTCACCCACTGGCTTCCCCCTTCCCACTGAAGTGTGAGCTCTATGTTTCAGGGCATCTATTAAAGAGTGAGCCACAGGCAGCCCCTTGGGAGCTCTGGTTTCATTTGGGGGAGAGGGAGGTGGGGGCTTAGTTTTTGTGATCTGGCTGACTGGACCCCGGGAACAGCGCTCCTTTGAGAACGCCCAGACCTACCAGATGAAGCACTTGGCATGGCTGCAGGCCAGCAGGGGAGGCCTCAGAGGCCCAGGCTGGGCACGTGGGTGCCGAGTCTGCAAAGGACAGCCCCATGGCTGTGAGCTGTCGGCTGCAGGGCGCAGGGCCTGGGGGGCAGGCGTTTGGGCCACCAAGCTGGACGTTAGGGTGGCCACAGAGGGCCAAGCAGGCAGGGAGCCTGTGCCGCCATCCTGGGGGGCCACAGGTGCTCTCTAGAAATCTGCAGCCATGGCGGTTTTGGGGTCAGGGGTCTAAAGGCAGCTCTGAGCTGCAGTGTAGTTTGTGATCACCCAGGAGGAGGGTGTAGAGCGGATGGACGGGAGGAAGCGGCTGCAGCTGGAGGGAAGAGAGGGGCCGTCCAGCCTCACCCGCTGCAGTCAGCTCTCCTATGGGCAAGGAAACAGCTAGGTGGCCCTGACCCCTGCGGTCCTGAGAGCCGGTGGCCTTCAGCCCCTCTTGGACAGGTCATGGTCTGGAAGCGCCCAGCGCAGGATGGATTCCAGACCAGCATCCCTGCAACCTTTTCAGCCCCACTGGCTGCTGCTTTAAACTGGCATGGAGACATTTGATCAGCTTCCCAGCCAGTTTTCTCTCCAGCTCAGCCAGGAGTGGGTGCCTGTGGCCTGTGTCACCAAGAGCTGGTGTCTCCTGCATGAGGGGCATGCACCCCTGGAATGAGGGTCTGTGCCTCGAGCTCAAAGTGTCCCGGCTCTGTCATCTGCCTGAAGTTGCCTGGCTTTTCCAGTGGGGCCTCCTTGAGTGCTGCAGCATCTGGGAGCATCCTAGCCTGTCCCGTGGGTGTGGCTGGGTGAGGGCTAGGAGGTGAGCCAGGAAGGAAGCACTCCACTCCAGAGTGAGGTGCCGCCTGAGCCATCCTGTGCCCCCTCAGTGTCTTCAGGTCTCTGCAGGTGTCA
CAGTCCATACCTGCAATCAACCCCAGCCATGGAGGTGGCTGTACCCCAGGTGTCTCCACTTAGTGCCCCCCCCCCCGACATGCCCCACGCTGCCCAGCCTCTCCTCTTCCCACCATCCGTCTGGTCAGGGGTCATTCTTGTGGTGCCTGCCCAAATCCTCTGAGGAGGGCTGCCTGGAGTGCAGGTCAGAATGGCTCTGGGGCCCCGATTGGGTTCTGAGACTTGGCTTGGGGAGGCAGGTGGTGGGCATGGGCAGAGTGGGCCTCAGGCATGCTGTACCTCCCTGACAACCTCCTGGGCTCCTTGCTCCTCCCTCCTGCCCACCTTAGGACCCTTGGGCTCCTCGATGGCTTCCCTGGGCTGGAACAGGCAGGTCTGGTTCTCAGTGGCTGTGCACACCGTTCCCCTGCGGGGCCCTGCCCATCCCTGCTCCCACATCCAGCGGACTGTTGTCATTTCTGCCCTAGGCTCTGGGACTACTCCGGATGATGCCCTCGGGCAGGCTATTGCAGTTCTGCCAGTCCCTGGGCAAACAGGGTCTGTCTGCGCTGGCCCCTGTGAGCTCGTCTTTGCCTGCTTAGACGAGAGCTCCGGAGGCTCAGCTGCGCACGGCTGTGGGCAGGGCTTTCCATGCGCTGGTCCAGGTGTACCCTGCCTGGCCTGCTGTGCGTTGTCTGCACGCACCCTCGCATTGCTGTGGGCGCGGCACTCTGCGCTGGTCTCCAAGGTGCCCGCATCTAGCTGTGATGCGCGCCTTGGGAGGTGCTGCCTGGTGTGGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCCCTGCGTGTGGTGACCTGGGCGCTTGCCTTAAAGGCGCAGCCCCTTGTGGCTGAGGGCAGAGCTCTTTGCGTTGGTCCACGGTGTGCTCCTCTGCCCGGGTAAGGCGCGCTCCCTCATGCAGCCCTTTCTGGCCCACTCAGTTGGTGAGCTGCCATGCGCCCCTGCCTCTCTCCCTGCAGGCTCCAGGAACACTCGGAGGTGTCTGGCTTCCTTCTGGAGTGTGACAGCTCGGTGCAGGGCGCGCTGCAGAAGCACCTCGCGCTATACAGGATCCGGCGGAAGGTCACGGTGGAGCCGCACCCGGAGCTGCGAGTGTGGGCGGTGTTGCCCAGTTCCCCTGAGGCCTGCGGGGCTGCATCGCTGCAGGAGAGGGCAGGGGCTGCCGCCATCCTCATCCGCGACCCGCGAACAGCACGCATGGGGTGGCGGCTCCTCACCCAGGATGAAGGCCCAGCCCTGGTGCCCGGGGGCCGGCTCGGGGACTTGTGGGATTATCACCAGCACCGATACCTGCAAGGTATGGGTGGGGTGGGCACGCTGGGCTGGATTGCACGGGTGGAGCTGGACGATGTTCAATTCTCGCTGGTTTCCCCCCTCCAATCCCTGCAGGCGTTCCTGAGGGGGTCCGAGACTTGCCTCCTGGGGTGGCCCTGCCCCTGGAGTCCAACCTGGCCTTCATGAACGGCGTGAGCTTCACCAAAGGCTGCTACATTGGCCAGGAGCTGACGGCCCGCACCCACCACATGGGCGTCATCCGCAAGCGCCTCTTCCCTGTCCGGTTCTTGGACCCCCTTCCCACCAGTGGCATCACCCCTGGTGCCACGGTGCTGACTGCCTCAGGACAGACTGTGGGCAAGTTCAGGGCTGGCCCGGGCAACGTGGGGCTGGCCCTGCTGTGGTCAGAGAAGATCAAGGGTCCTCTGCACATCAGAGCCTCTGAGGGTGCCCAGGTGGCCTTAGCCGCATCTGTGCCAGACTGGTGGCCTACAGTCTCCAAGTAGTCCGAAGCCTTGGCTGGCGCAGGCTGATGGGGAGGCTGGGGCCTGGGGCCTTTGGCCTCTGTCCAGGGTCTTCCCGTCCCATCTGTCTGCTGCGCCTACTGGGTGGGAGCCCTGGTTTCCATCTGGGAAAGTCCCCCTTGTAGGTGCCCTGCCTGGCCCCACCCATGCTCAGGGGCCCCAGGCACGTGGGTTGTTTTCTCCCTGGACTTCCTGTGGCCCCAGAGGAGCCCACCGTGTGAGTGCTGGGCTCCAGATGGCGCCGGGTCCCAATCGTGGCTCCACACAGGGTTGTCTGGGAGGACGGGACGGTGTCTCTGGCCAGCACTGGCAGCTTCCGGGCCTTGTACCCCACTCTGCCTGGCATGAGCCTCATGGGGGGTTGGTCCCTGTGCCTGGAAGCGGGGTGGTGTCCAGGGTCTGCAGGCTGGGGCTCGGGCTTTGGGAGTTGTTTCACTGTGCTTGCTTCCAGCATGTCTCAGGGTGGGGCTATGCGTGGTCTAGAGGGGTCTGGGGCATTGGATCAGGTGGCATGTGGGTGTCTACACATCGAGAAGCACACAGGGATGAGCCACTAGGTATCCCATGCTGGAGGCTTGTGGAAGGCTGTGCCCATCTCCCATGTTTCCCCACCTCTGTTCCTCCTCAGAGCCCTCCAGGAGCGTGGGGTGGGGGCCAGCGCAGGGCTCAGGAGCCAGCAGGGCAGAGTTCTGCCTGTGTGTGCTGGGTTTTGGCATAGCCTGTGTTTGCAGTGAGAGTGACTTGCTGTCAGTCACGGGGCACAGCCTCCTGTTCACCCACTGGCTTCCCCCTTCCCACTGAAGTGTGAGCTCTATGTTTCAGGGCATCTATTAAAGAGTGAGCCACAGGCAGCCCCTTGGGAGCTCTGGTTTCATTTGGGGGAGAGGGAGGTGGGGGCTTAGTTTTTGTGATCTGGCTGACTGGACCCCGGGAACAGCGCTCCTTTGAGAACGCCCAGACCTACCAGATGAAGCACTTGGCATGGCTGCAGGCCAGCAGGGGAGGCCTCAGAGGCCCAGGCTGGGCACGTGGGTGCCGAGTCTGCAAAGGACAGCCCCATGGCTGTGAGCTGTCGGCTGCAGGGCGCAGGGCCTGGGGGGCAGGCGTTTGGGCCACCAAGCTGGACGTTAGGGTGGCCACAGAGGGCCAAGCAGGCAGGGAGCCTGTGCCGCCATCCTGGGGGGCCACAGGTGCTCTCTAGAAATCTGCAGCCATGGCGGTTTTGGGGTCAGGGGTCTAAAGGCAGCTCTGAGCTGCAGTGTAGTTTGTGATCACCCAGGAGGAGGGTGTAGAGCGGATGGACGGGAGGAAGCGGCTGCAGCTGGAGGGAAGAGAGGGGCCGTCCAGCCTCACCCGCTGCAGTCAGCTCTCCTATGGGCAAGGAAACAGCTAGGTGGCCCTGACCCCTGCGGTCCTGAGAGCCGGTGGCCTTCAGCCCCTCTTGGACAGGTCATGGTCTGGAAGCGCCCAGCGCAGGATGGATTCCAGACCAGCATCCCTGCAACCTTTTCAGCCCCACTGGCTGCTGCTTTAAACTGGCATGGAGACATTTGATCAGCTTCCCAGCCAGTTTTCTCTCCAGCTCAGCCAGGAGTGGGTGCCTGTGGCCTGTGTCACCAAGAGCTGGTGTCTCCTGCATGAGGGGCATGCACCCCTGGAATGAGGGTCTGTGCCTCGAGCTCAAAGTGTCCCGGCTCTGTCATCTGCCTGAAGTTGCCTGGCTTTTCCAGTGGGGCCTCCTTGAGTGCTGCAGCATCTGGGAGCATCCTAGCCTGTCCCGTGGGTGTGGCTGGGTGAGGGCTAGGAGGTGAGCCAGGAAGGAAGCACTCCACTCCAGAGTGAGGTGCCGCCTGAGCCATCCTGTGCCCCCTCAGTGTCTTCAGGTCTCTGCAGGTGTCA
Task1_train_2801
This variant affects the gene ACTA1 (actin alpha 1, skeletal muscle) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Congenital myopathy 2c, severe infantile, autosomal dominant
TAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGT
TAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGAGCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGT
Task1_train_2802
Consider a variant on Chromosome 1 in gene ACTA1 (actin alpha 1, skeletal muscle). Determine its clinical classification and disease relevance.
Pathogenic; Alpha-actinopathy
AGGCAGGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCA
AGGCAGGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGGCAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCA
Task1_train_2803
Here is a genetic alteration in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Actin accumulation myopathy
GGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTC
GGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCAAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTC
Task1_train_2804
Given this context: Chromosome 1, gene ACTA1 (actin alpha 1, skeletal muscle) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Alpha-actinopathy
TCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGT
TCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCGCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGT
Task1_train_2805
Mutation context: Chromosome 1, Gene ACTA1 (actin alpha 1, skeletal muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Congenital myopathy 2c, severe infantile, autosomal dominant
TTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGC
TTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATGTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGC
Task1_train_2806
This variant affects gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; Actin accumulation myopathy
CAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACT
CAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACCTCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACT
Task1_train_2807
Here is a genetic alteration in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Actin accumulation myopathy
TGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGAC
TGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGACCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGAC
Task1_train_2808
A change on Chromosome 1 affects gene ACTA1 (actin alpha 1, skeletal muscle). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Congenital myopathy 2c, severe infantile, autosomal dominant
TGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGAC
TGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGACCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGAC
Task1_train_2809
A change on Chromosome 1 affects gene ACTA1 (actin alpha 1, skeletal muscle). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Alpha-actinopathy
AAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCT
AAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTGGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCT
Task1_train_2810
This mutation occurs in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Congenital myopathy 2c, severe infantile, autosomal dominant
TAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGG
TAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGCCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGG
Task1_train_2811
Given this context: Chromosome 1, gene ACTA1 (actin alpha 1, skeletal muscle) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Actin accumulation myopathy
TTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGA
TTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTCTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGA
Task1_train_2812
This sequence variant lies in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Actin accumulation myopathy
CCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAG
CCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGCAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAG
Task1_train_2813
Consider this mutation in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is this a benign change or a disease-causing variant?
Pathogenic; Actin accumulation myopathy
CTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGG
CTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTGGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGG
Task1_train_2814
A variant was discovered in gene ACTA1 (actin alpha 1, skeletal muscle), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Progressive scapulohumeroperoneal distal myopathy
ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCC
ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCACCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCC
Task1_train_2815
This mutation occurs in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Actin accumulation myopathy
ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCC
ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCACCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCC
Task1_train_2816
This variant affects gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; Nemaline myopathy 2
ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCC
ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCACCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCC
Task1_train_2817
Here is a mutation in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Actin accumulation myopathy
ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCC
ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCTCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCC
Task1_train_2818
This is a variant in ACTA1 (actin alpha 1, skeletal muscle), located on Chromosome 1. Is this mutation a likely cause of disease or not?
Pathogenic; Actin accumulation myopathy
CATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGC
CATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACAGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGC
Task1_train_2819
Mutation context: Chromosome 1, Gene ACTA1 (actin alpha 1, skeletal muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Neuromuscular disease
CATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGC
CATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACGGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGC
Task1_train_2820
Given this variant in gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Actin accumulation myopathy
CATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGC
CATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACGGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGC
Task1_train_2821
Mutation context: Chromosome 1, Gene ACTA1 (actin alpha 1, skeletal muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Actin accumulation myopathy
CTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGG
CTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGGAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGG
Task1_train_2822
This variant affects gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; Actin accumulation myopathy
TTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTT
TTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGTGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTT
Task1_train_2823
This variant lies on Chromosome 1 and affects the gene ACTA1 (actin alpha 1, skeletal muscle). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Actin accumulation myopathy
AAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCT
AAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGTGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCT
Task1_train_2824
Mutation context: Chromosome 1, Gene ACTA1 (actin alpha 1, skeletal muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Actin accumulation myopathy
GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCT
GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCGGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCT
Task1_train_2825
A sequence alteration has been identified in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Fetal akinesia deformation sequence 1
GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCT
GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCTGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCT
Task1_train_2826
A variant on Chromosome 1 in gene ACTA1 (actin alpha 1, skeletal muscle) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Arthrogryposis multiplex congenita
GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCT
GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCTGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCT
Task1_train_2827
This sequence change occurs on Chromosome 1, altering ACTA1 (actin alpha 1, skeletal muscle). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Actin accumulation myopathy
GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCT
GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCTGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCT
Task1_train_2828
This is a variant in ACTA1 (actin alpha 1, skeletal muscle), located on Chromosome 1. Is this mutation a likely cause of disease or not?
Pathogenic; Actin accumulation myopathy
TGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCC
TGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGTAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCC
Task1_train_2829
This variant affects gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; Actin accumulation myopathy
AACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCG
AACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTGGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCG
Task1_train_2830
This variant affects gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; Actin accumulation myopathy
CTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGC
CTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAACTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGC
Task1_train_2831
This genomic variant is located on Chromosome 1, within the ACTA1 (actin alpha 1, skeletal muscle) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Actin accumulation myopathy
GTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTG
GTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGATCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTG
Task1_train_2832
The variant affects gene ACTA1 (actin alpha 1, skeletal muscle), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Actin accumulation myopathy
AGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGG
AGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGCAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGG
Task1_train_2833
The variant affects gene ACTA1 (actin alpha 1, skeletal muscle), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Actin accumulation myopathy
GGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGG
GGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTTGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGG
Task1_train_2834
Here is a genetic alteration in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Congenital myopathy 2c, severe infantile, autosomal dominant
TTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGC
TTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCATGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGC
Task1_train_2835
A genomic change on Chromosome 1 affects ACTA1 (actin alpha 1, skeletal muscle). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Actin accumulation myopathy
CCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCC
CCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGATCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCC
Task1_train_2836
This gene mutation involves ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
Pathogenic; Actin accumulation myopathy
GTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGA
GTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGACCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGA
Task1_train_2837
Gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Actin accumulation myopathy
GCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGG
GCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCAGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGG
Task1_train_2838
The gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; not provided
CTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGT
CTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGTCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGT
Task1_train_2839
A variant was discovered in gene ACTA1 (actin alpha 1, skeletal muscle), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Nemaline myopathy 3, autosomal dominant or recessive
CTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATG
CTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCTCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATG
Task1_train_2840
A sequence alteration has been identified in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Actin accumulation myopathy
TCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCG
TCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGTCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCG
Task1_train_2841
Here is a variant affecting ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Congenital myopathy 2c, severe infantile, autosomal dominant
GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAAC
GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCAAGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAAC
Task1_train_2842
A mutation on Chromosome 1 affecting ACTA1 (actin alpha 1, skeletal muscle) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Actin accumulation myopathy
GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAAC
GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCAAGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAAC
Task1_train_2843
A variant was discovered in gene ACTA1 (actin alpha 1, skeletal muscle), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Progressive scapulohumeroperoneal distal myopathy
GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAAC
GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCAGGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAAC
Task1_train_2844
A variant on Chromosome 1 in gene ACTA1 (actin alpha 1, skeletal muscle) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Alpha-actinopathy
GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAAC
GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCATGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAAC
Task1_train_2845
Given this variant in gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Actin accumulation myopathy
CTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCA
CTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTTTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCA
Task1_train_2846
A mutation on Chromosome 1 affecting ACTA1 (actin alpha 1, skeletal muscle) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Actin accumulation myopathy
CGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGT
CGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCGCGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGT
Task1_train_2847
A variant affecting Chromosome 1, within the gene ACTA1 (actin alpha 1, skeletal muscle), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Actin accumulation myopathy
TCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGG
TCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGCTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGG
Task1_train_2848
This sequence variant lies in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Actin accumulation myopathy
CAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGC
CAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACGGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGC
Task1_train_2849
The variant affects gene ACTA1 (actin alpha 1, skeletal muscle), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Actin accumulation myopathy
CATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCAC
CATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGCCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCAC
Task1_train_2850
The variant affects gene ACTA1 (actin alpha 1, skeletal muscle), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Alpha-actinopathy
CTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTG
CTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGCATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTG
Task1_train_2851
Gene ACTA1 (actin alpha 1, skeletal muscle), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Actin accumulation myopathy
AGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAG
AGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTAAATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAG
Task1_train_2852
This variant impacts the gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
Pathogenic; Actin accumulation myopathy
TTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGG
TTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACACGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGG
Task1_train_2853
A mutation found in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Actin accumulation myopathy
TGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCC
TGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCATCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCC
Task1_train_2854
This alteration in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Actin accumulation myopathy
AATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTC
AATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGCTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTC
Task1_train_2855
A variant affecting Chromosome 1, within the gene ACTA1 (actin alpha 1, skeletal muscle), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Actin accumulation myopathy
TGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAG
TGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCTTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAG
Task1_train_2856
This alteration in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Non-immune hydrops fetalis
GCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGG
GCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCGGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGG
Task1_train_2857
Given a variant located on Chromosome 1 and affecting ACTA1 (actin alpha 1, skeletal muscle), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; not provided
CGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGG
CGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGACAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGG
Task1_train_2858
This variant lies on Chromosome 1 and affects the gene ACTA1 (actin alpha 1, skeletal muscle). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Actin accumulation myopathy
ACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGC
ACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACCTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGC
Task1_train_2859
This alteration occurs within gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
Pathogenic; Actin accumulation myopathy
AACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCA
AACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCGCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCA
Task1_train_2860
The variant affects gene ACTA1 (actin alpha 1, skeletal muscle), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Actin accumulation myopathy
CATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGA
CATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCCTACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGA
Task1_train_2861
This genomic variant is located on Chromosome 1, within the ACTA1 (actin alpha 1, skeletal muscle) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Actin accumulation myopathy
ATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAG
ATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCACACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAG
Task1_train_2862
A variant was discovered on Chromosome 1, affecting ACTA1 (actin alpha 1, skeletal muscle). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Actin accumulation myopathy
GCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCT
GCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATAACGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCT
Task1_train_2863
The following genetic variant occurs in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Congenital myopathy
GCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCT
GCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATATCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCT
Task1_train_2864
Given this variant in gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Actin accumulation myopathy
GCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCT
GCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATATCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCT
Task1_train_2865
This sequence change occurs on Chromosome 1, altering ACTA1 (actin alpha 1, skeletal muscle). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Actin accumulation myopathy
GGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTC
GGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCCGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTC
Task1_train_2866
A variant has been detected on Chromosome 1 in ACTA1 (actin alpha 1, skeletal muscle). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Alpha-actinopathy
ACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTG
ACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTATCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTG
Task1_train_2867
This mutation is located in gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Alpha-actinopathy
CGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTG
CGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCAAGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTG
Task1_train_2868
A mutation found in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; See cases
CGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTG
CGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCAGGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTG
Task1_train_2869
Mutation context: Chromosome 1, Gene ACTA1 (actin alpha 1, skeletal muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Actin accumulation myopathy
CGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTG
CGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCAGGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTG
Task1_train_2870
Here is a variant affecting ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Actin accumulation myopathy
GAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTGTCCCTCTCCTGGGGCTGAAAGACAAGGGTCACAACCCAGGACTGGCTAG
GAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCGTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTGTCCCTCTCCTGGGGCTGAAAGACAAGGGTCACAACCCAGGACTGGCTAG
Task1_train_2871
Gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Actin accumulation myopathy
GCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTGTCCCTCTCCTGGGGCTGAAAGACAAGGGTCACAACCCAGGACTGGCTAGACCTGGAGTG
GCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGTCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTGTCCCTCTCCTGGGGCTGAAAGACAAGGGTCACAACCCAGGACTGGCTAGACCTGGAGTG
Task1_train_2872
This variant affects gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; Actin accumulation myopathy
CCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTGTCCCTCTCCTGGGGCTGAAAGACAAGGGTCACAACCCAGGACTGGCTAGACCTGGAGTGG
CCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCTGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTGTCCCTCTCCTGGGGCTGAAAGACAAGGGTCACAACCCAGGACTGGCTAGACCTGGAGTGG
Task1_train_2873
A genomic change on Chromosome 1 affects ACTA1 (actin alpha 1, skeletal muscle). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Actin accumulation myopathy
GCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTGTCCCTCTCCTGGGGCTGAAAGACAAGGGTCACAACCCAGGACTGGCTAGACCTGGAGTGGAGGTGGAGATGGGTGAGGGGCTCTTCCTAGATGAGGCTTAGC
GCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTAGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTGTCCCTCTCCTGGGGCTGAAAGACAAGGGTCACAACCCAGGACTGGCTAGACCTGGAGTGGAGGTGGAGATGGGTGAGGGGCTCTTCCTAGATGAGGCTTAGC
Task1_train_2874
A genomic change on Chromosome 1 affects COG2 (component of oligomeric golgi complex 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Congenital disorder of glycosylation, type IIq
CTTCCAGAACTCTTGGAAATAATCAAGCCAAAACTTGAAATGATTGGCTTTAAGAATTTTTCTTCTATCTCAGGTAAAAATGAATCTTGACTAAGCAAATCTTTGAATAAGAAATGATTTAAAATAAAATCTCAGAGACTGTAGGGTATATTTAACATTTTCTTCTGTAGTTGTAAATCCTTGGTTGTTTCTCTATTCTGTATTATAACTTACCTAAATAAGATGTTTTATTTAATTCATTTGATCTGATTTATTATAGTACACAATGTAAATGCTGTGACAGTATTTCAAATGAAGTTCATGTCTGGGCCTGAGCATGATGATTAAATCCAGTCTTTAATCTCAACAGCAGCCCTGGAGGACTCCCAGAGCTCTTTTTCAGCCTGTGTGCCCTCCTTGAGTAGCAAGATCATCCAGGATTTAAGTGACTCTTGCTTCGGTTTCCTAAAAAGCGCCCTGGAGGTTCCCAGGCTTTACCGAAGAACCAATAAGGTCAGCGCCATTTATGGGAGAGAATTTTGAGGTGGGGAAGTGTGTGTTAGGAAAGCCAAAGAGGAAGGAAGGAAGGAAGCGGCGGATTCCCAGGGTAGCCTGAGACAGACTGAGCTCATCCCATTCTGAGAATGGTATTGATGAAGAGAGGGAGGTTGGGCAGGGGTGGTCAGGGGCTCTGGGCCACAAACTGAAATAGTTAGACCTTTCCCATCCTATCCTAAAAGTATTTAAGGATATACTCAGTTTCCTTTTGGTCTTGAGGAAAAGTAGGTTTTTCAGAAGAAAGCATTTTAATAACATTTTAAAGTCCTATACGTTTTTGTCTCCATATCAGGTATTCCACACTTTATATCTTGTTCCCTCTTTATTGTTACTGGAAGCATAGTTGGCCCCTTATCCCCAGGTTCTGCATCCACAGAGTCAACCAACTGTGGATCGAAAATATTTAGGGGGAAAAAAAACTACAACAATAAAAAATAATACATGCCAAATGTGGTGGCTCACACCAAAATCCCAGCATTTTGGGAAGCCGAGGCAGGAGGATTGCTTAAACCTAGGAGTTTGAGACCAGCCTGGGCAATGTCGTGACATCCAGTCTCCACACACAAAAAAAGTTTTTATTAAAAAAAATATAAATTTTAGTAATCTAAAGATGATTTAAACTATACTGAAGGATGTGCATAGGTTATATGCAAATATTATGCCATTTTATATTTGCTCAATAATTATTGTCTGATTTGAAGCTGCCACTTGGAAGTGGGAGAGAGAAACCAATATGTTATTTTTCTTTAGTAATCTACCAACTCTCCCTTTCTATTCAATAGGCTGTTACAGTAATACATTTACTGAGAGTTTGTTATGGGTCATTCACTCTGCTAGACACTTTGCATAGTCTTATTATCCTCCTACAAAATGGGTGCTAGTATTGTCATTTGCAGATGAAGAAACCAGAGCTAAGAAAGGTTACATTCCTGACCCTGTATCCTTGCTTCTCAAACAGTGGTCTAGTGATCAGCAGCATTCACATCACCTTGTGGGTGGGAGCTTGCTAGAAAAGCACAATCCCAGAACTCAACCCTTCCACCCACTGCCCCCAACAGAATTAGAACCTGAGTTTTACGAGATCACCAGGTGATTGGTGTGGACGTGAGGCCACGGGAAGCAGTGCCCTAGTTTCGGTGCCCTGAGCGGTGGGTGGCTGTGCCAGCCAGCACCTCAACCCAGTCTGGCTCCAGACATCACCTTCTTGTGCTGGCTCTTCTTATTCCCTCATGTTCTCCAGGCAGCTTTCTGTGGACCCCAGTGTTACTTTTGGGAGGGATGGAAGTTGTCCGTGTCTCAAAACTAGAACGTTAATAGTATCCTTTTGGACTTGAGTTCTGGGTAACTTACTGTTTCTTTTCTGTTTTTTTCCTGTGCATCTTTATCTCCTACCATCATCATTCCAGGAGGTCCCAACCACAGCTTCCTCCTATGTGGACAGTGCTCTGAAGCCCTTATTCCAGCTTCAGAGCGGACACAAGGATAAGCTCAAACAAGCAATAATTCAGCAGTGGCTAGAAGGCACTCTCAGTGAAAGCACTCATAAGTAAGTAAATTAAAAGCAGACCTTGTGGGCCTTGCTTAGAAGAGTCTGCGGCAGAAACCCCCAAGGCAATCAAGCACTGCGTATGGATAAGGCAGTGAGACTGCCTAGCACTTCTTCACTGGATTAGTCAGAGTGTGTGTCCCACTGTTTGCTTCCTCCCTCCCCACACCCTTGTGGACGGCCTGTGGGCTGGCTTCCTCTGCCTGGGCTTCAGCCTCGGGGCCGGGCCATGTGCACAGTGCCCCCGCATCTCCAGGCCCTGCCTGCGTTCCCTGCAGGTGCCGTTCTCCCAGGTCCAGCCACATTCTTCTGGGAGGCCCTTTCGTTACTCAGACCCTGTCAGTCCAAAGTGGCTCTAATCATAACAGATACTCAAAGGACTTAGGTTGGTGAAACCCTTGTAATCAAGGAAGAGAAAACATACATTTAAAAGTAATTACAGCTGACAAGGACTCGATTCCTAAAACCTCTAAAACACTTGATTGTCTTTTTCTAATGAAATTTGCTTTTCCCAAATCAAAAAGTGTGTTACTCAATTTTGTTACCAATTTTGTTTAATTATTAAATATTAATTTTGCAGTAATATTTTATTTACTTAAGATTTAAGTGGCCATTTATGGGTTAATTTAGAACATAACAATGATGTATAATACAGTTTTTGTGGGCAAATGTATTTCAGATGCCAAGTAACCAGCTTGTAGACAAAGCTTTGAAATATAACTCATTTATAATTTGAAAATTATATTGCAAGTATTTTGAAGGCAATGAGCTTTATTTAAAATTCTGAAATACTTTTACACTCTAAAAGATGAACTGTTCCTAGAACTGATTGGAAATGAACTTGTTACTTGATCTGGGGCATGAACTACAGATGTCCACCCTCGATACATGAAAGACAAAATTGGTCTATAGTTTTCTCCATGTTCAGGATTAAAAATTTAAGCAAAATCCACACACACACATATTTCTTAAATTCTGAGGGAATGCTATGTTAGACACTTAAGACCATATGTGTGTGTGTGTATATATATATACGTATATACATGTATATATATACACATATATATATAAAATGATCTTAAGAAACTTAAATACTTACCGTGGTTGAATTTTCGTTGGAAGTGAATTTTTATCTTAAAAATCTCTTTTTTTGGTCCACAAAGCCAGTTACTCTATTTGGTGTTACACACAAATGCCTCTTTTCACCAATAAACGTGTCTTCTATTCAAGGTACTATGAAACCGTGTCAGATGTATTAAACTCTGTGAAGAAGATGGAAGAGAGCCTGAAAAGGCTGAAACAAGCCAGAAAAACCACTCCCGCCAACCCCGTCGGTCCCAGTGGTGGCATGAGCGACGACGACAAAATCAGGCTGCAGTTGGCCCTAGATGTTGAGTACTTGGGAGAGCAGGTAACCCATCAGCCGCCGGCAGCTCCAGCGAGCCTGAAACCAAATTCTGAGAGCCGGGCAGTTACTTGGTGGCTCGCGTGATCCCAGAGATGCTGTCGCAGTGGCTAGGGAATTGCTTCCTGTGTTAAGACTAGGAGTCGGGGCTCCCAAATTACTTTGCCCCTAGGCAGTATGAGACGGCAATATGAGAATTCCCGTTTTGAAGTCTGGTGGCGTGCTCTCTGGTGCTGTTGCCATCTGCTTGTTTCCCCAGTGCCCATGCTCACGGAGCTCACTACAGTGAGACTTTTTGGTCCAGTGCCTGATACTTAATTGGTGCGAACCCCAGGCTTTTGAAATGCTTGCTGGTTTAGCTTAAAATAACTGAAAGCATTACCCCTCTATGGTGCATGAGAAATCCTTTGAGCATAACTTCTCTGCTTCCCTGCTTGGCCTTTGTAGCTTTCCTATAAAACACAAATTTTAGAATCATGGCACGTAGTTGAATGGTAATGTGGATATTATCACTTAAGAGGTGATATGGATAAGGTGCAATGAATGTCTTTTCATTTTTCACTGAGGTGAAAATGAAATTTCACCATAAAATGAAATTTTATGATACT
CTTCCAGAACTCTTGGAAATAATCAAGCCAAAACTTGAAATGATTGGCTTTAAGAATTTTTCTTCTATCTCAGGTAAAAATGAATCTTGACTAAGCAAATCTTTGAATAAGAAATGATTTAAAATAAAATCTCAGAGACTGTAGGGTATATTTAACATTTTCTTCTGTAGTTGTAAATCCTTGGTTGTTTCTCTATTCTGTATTATAACTTACCTAAATAAGATGTTTTATTTAATTCATTTGATCTGATTTATTATAGTACACAATGTAAATGCTGTGACAGTATTTCAAATGAAGTTCATGTCTGGGCCTGAGCATGATGATTAAATCCAGTCTTTAATCTCAACAGCAGCCCTGGAGGACTCCCAGAGCTCTTTTTCAGCCTGTGTGCCCTCCTTGAGTAGCAAGATCATCCAGGATTTAAGTGACTCTTGCTTCGGTTTCCTAAAAAGCGCCCTGGAGGTTCCCAGGCTTTACCGAAGAACCAATAAGGTCAGCGCCATTTATGGGAGAGAATTTTGAGGTGGGGAAGTGTGTGTTAGGAAAGCCAAAGAGGAAGGAAGGAAGGAAGCGGCGGATTCCCAGGGTAGCCTGAGACAGACTGAGCTCATCCCATTCTGAGAATGGTATTGATGAAGAGAGGGAGGTTGGGCAGGGGTGGTCAGGGGCTCTGGGCCACAAACTGAAATAGTTAGACCTTTCCCATCCTATCCTAAAAGTATTTAAGGATATACTCAGTTTCCTTTTGGTCTTGAGGAAAAGTAGGTTTTTCAGAAGAAAGCATTTTAATAACATTTTAAAGTCCTATACGTTTTTGTCTCCATATCAGGTATTCCACACTTTATATCTTGTTCCCTCTTTATTGTTACTGGAAGCATAGTTGGCCCCTTATCCCCAGGTTCTGCATCCACAGAGTCAACCAACTGTGGATCGAAAATATTTAGGGGGAAAAAAAACTACAACAATAAAAAATAATACATGCCAAATGTGGTGGCTCACACCAAAATCCCAGCATTTTGGGAAGCCGAGGCAGGAGGATTGCTTAAACCTAGGAGTTTGAGACCAGCCTGGGCAATGTCGTGACATCCAGTCTCCACACACAAAAAAAGTTTTTATTAAAAAAAATATAAATTTTAGTAATCTAAAGATGATTTAAACTATACTGAAGGATGTGCATAGGTTATATGCAAATATTATGCCATTTTATATTTGCTCAATAATTATTGTCTGATTTGAAGCTGCCACTTGGAAGTGGGAGAGAGAAACCAATATGTTATTTTTCTTTAGTAATCTACCAACTCTCCCTTTCTATTCAATAGGCTGTTACAGTAATACATTTACTGAGAGTTTGTTATGGGTCATTCACTCTGCTAGACACTTTGCATAGTCTTATTATCCTCCTACAAAATGGGTGCTAGTATTGTCATTTGCAGATGAAGAAACCAGAGCTAAGAAAGGTTACATTCCTGACCCTGTATCCTTGCTTCTCAAACAGTGGTCTAGTGATCAGCAGCATTCACATCACCTTGTGGGTGGGAGCTTGCTAGAAAAGCACAATCCCAGAACTCAACCCTTCCACCCACTGCCCCCAACAGAATTAGAACCTGAGTTTTACGAGATCACCAGGTGATTGGTGTGGACGTGAGGCCACGGGAAGCAGTGCCCTAGTTTCGGTGCCCTGAGCGGTGGGTGGCTGTGCCAGCCAGCACCTCAACCCAGTCTGGCTCCAGACATCACCTTCTTGTGCTGGCTCTTCTTATTCCCTCATGTTCTCCAGGCAGCTTTCTGTGGACCCCAGTGTTACTTTTGGGAGGGATGGAAGTTGTCCGTGTCTCAAAACTAGAACGTTAATAGTATCCTTTTGGACTTGAGTTCTGGGTAACTTACTGTTTCTTTTCTGTTTTTTTCCTGTGCATCTTTATCTCCTACCATCATCATTCCAGGAGGTCCCAACCACAGCTTCCTCCTATGTGGACAGTGCTCTGAAGCCCTTATTCCAGCTTCAGAGCGGACACAAGGATAAGCTCAAACAAGCAATAATTCAGCAGGGGCTAGAAGGCACTCTCAGTGAAAGCACTCATAAGTAAGTAAATTAAAAGCAGACCTTGTGGGCCTTGCTTAGAAGAGTCTGCGGCAGAAACCCCCAAGGCAATCAAGCACTGCGTATGGATAAGGCAGTGAGACTGCCTAGCACTTCTTCACTGGATTAGTCAGAGTGTGTGTCCCACTGTTTGCTTCCTCCCTCCCCACACCCTTGTGGACGGCCTGTGGGCTGGCTTCCTCTGCCTGGGCTTCAGCCTCGGGGCCGGGCCATGTGCACAGTGCCCCCGCATCTCCAGGCCCTGCCTGCGTTCCCTGCAGGTGCCGTTCTCCCAGGTCCAGCCACATTCTTCTGGGAGGCCCTTTCGTTACTCAGACCCTGTCAGTCCAAAGTGGCTCTAATCATAACAGATACTCAAAGGACTTAGGTTGGTGAAACCCTTGTAATCAAGGAAGAGAAAACATACATTTAAAAGTAATTACAGCTGACAAGGACTCGATTCCTAAAACCTCTAAAACACTTGATTGTCTTTTTCTAATGAAATTTGCTTTTCCCAAATCAAAAAGTGTGTTACTCAATTTTGTTACCAATTTTGTTTAATTATTAAATATTAATTTTGCAGTAATATTTTATTTACTTAAGATTTAAGTGGCCATTTATGGGTTAATTTAGAACATAACAATGATGTATAATACAGTTTTTGTGGGCAAATGTATTTCAGATGCCAAGTAACCAGCTTGTAGACAAAGCTTTGAAATATAACTCATTTATAATTTGAAAATTATATTGCAAGTATTTTGAAGGCAATGAGCTTTATTTAAAATTCTGAAATACTTTTACACTCTAAAAGATGAACTGTTCCTAGAACTGATTGGAAATGAACTTGTTACTTGATCTGGGGCATGAACTACAGATGTCCACCCTCGATACATGAAAGACAAAATTGGTCTATAGTTTTCTCCATGTTCAGGATTAAAAATTTAAGCAAAATCCACACACACACATATTTCTTAAATTCTGAGGGAATGCTATGTTAGACACTTAAGACCATATGTGTGTGTGTGTATATATATATACGTATATACATGTATATATATACACATATATATATAAAATGATCTTAAGAAACTTAAATACTTACCGTGGTTGAATTTTCGTTGGAAGTGAATTTTTATCTTAAAAATCTCTTTTTTTGGTCCACAAAGCCAGTTACTCTATTTGGTGTTACACACAAATGCCTCTTTTCACCAATAAACGTGTCTTCTATTCAAGGTACTATGAAACCGTGTCAGATGTATTAAACTCTGTGAAGAAGATGGAAGAGAGCCTGAAAAGGCTGAAACAAGCCAGAAAAACCACTCCCGCCAACCCCGTCGGTCCCAGTGGTGGCATGAGCGACGACGACAAAATCAGGCTGCAGTTGGCCCTAGATGTTGAGTACTTGGGAGAGCAGGTAACCCATCAGCCGCCGGCAGCTCCAGCGAGCCTGAAACCAAATTCTGAGAGCCGGGCAGTTACTTGGTGGCTCGCGTGATCCCAGAGATGCTGTCGCAGTGGCTAGGGAATTGCTTCCTGTGTTAAGACTAGGAGTCGGGGCTCCCAAATTACTTTGCCCCTAGGCAGTATGAGACGGCAATATGAGAATTCCCGTTTTGAAGTCTGGTGGCGTGCTCTCTGGTGCTGTTGCCATCTGCTTGTTTCCCCAGTGCCCATGCTCACGGAGCTCACTACAGTGAGACTTTTTGGTCCAGTGCCTGATACTTAATTGGTGCGAACCCCAGGCTTTTGAAATGCTTGCTGGTTTAGCTTAAAATAACTGAAAGCATTACCCCTCTATGGTGCATGAGAAATCCTTTGAGCATAACTTCTCTGCTTCCCTGCTTGGCCTTTGTAGCTTTCCTATAAAACACAAATTTTAGAATCATGGCACGTAGTTGAATGGTAATGTGGATATTATCACTTAAGAGGTGATATGGATAAGGTGCAATGAATGTCTTTTCATTTTTCACTGAGGTGAAAATGAAATTTCACCATAAAATGAAATTTTATGATACT
Task1_train_2875
A variant found in Chromosome 1 affects GNPAT (glyceronephosphate O-acyltransferase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Rhizomelic chondrodysplasia punctata type 2
CTCCAGAACTCTTCATCTTGCAAAACTGAAATGGTACCCATTCAACACACTCCCCGTTCTACCCTCCCCCTGACCCTGGGCAATCAGCATTCTACTTTCTGTCTCTGTGAACTACTCTAGATGCTTGATATAGGTGGAATCATACAGTACTTGTCCTTTTGTGACTGGCATATTTCACTTAACAGAATGCCCTCAAGGTTCATCCATGTTGCAGCATGTGTCAGAATTTCCTTCCTTTTTGAAGTTGGAAATGCATCTGCTCAAGACCCTGCTTTCCATTTTTTTATATATATACAAAAATGGTATATATGGAATTGCTGGGTCTTGTGGTAATTTTTTTTCATTTTTTGAGGAACCACCATACTGCCTTCCTTAGCAGCTGCACCATTTTACATTCCCACCAAAAGTGCACAAGAGTTCCAGTTGTTCTACATCCTTGCCAACACCTGTTATTTTCTGATATGTTTTATAATAATTTTAATGAGTGTGAAGTGGTATCTCCTTGTAGTTTTGATTTGCATTTCCCTAATGATTAGTGATGCTGAGCATCTTTTTTGTGTGCTTATTGGCCATTTGTATATCTTTGGAGAAATGTCTGTTCAAGTCCGTTATTTTTTAATTAGGTTGTTTGGGGCTTTTTTTGTTGAGTTGTAGGAATTGTTTCTACATCCTGGATATTCACCCCTTATCAGACAGATGATTTGCAAATATTATCTTCCATTTCATGGGTTACCTTTTCACTCTGTTGATTGTGTTATTTGATGCATGGAAGTTTTTAATTGATGTAGTCCAATTGATCTATTTGTTTCTTTGGTTCCCTGGTTCCCTGTGCTTTTGGTATCAGATCGAAGAAATCATTGCCAAATCCGAGGTCATGAAGCTTTTCCCTTATGTTTTATCCTAAGAGTTTTATGGTTTCAGGTCTTACATTAAGATCTTTGGTTTTTTGAGTTAATTTTTGTATATGGTGTAAGTTAAGGGTCCAACTTCATGTCTAACATTAATTTTAATAGCCATATAATATTCAGCAGTGTGGATATTTCATAATTTAGTAGTTTTGCTGTTATAAACAATGTCATAATACATTTTTATATTGGTGCTTTTATTCCTGTAAGATCGATTCCTAAAAGTGGGATTGCTAAGGCATATAAGTTGTTTATCCACTCCCTTTTAGGGTAGCCAGGAAAGCCAGGATTCAAGTATACACGTTTGTTAATAAATGCAGTGAATGGTAAGGTTAAAACTGCCAAGAACTTAAGCACTTTAAAAGCATTTTCATCTGAACAAACTTGTGAGGAAGTTATTTGAAAACTAGGGGAAATGAAGAGAAAGACTATTTTAAAACTGCTGGTAGCAATCTTCCTTTCTTACAAGATTTGCCTTATTTAATCTCTTCCAACAAAAGTAGGTTGATGTTTTTTCCTGGTAGGCAAAAGATGAGAGCGGGTTTGGCCTGGCTGTCCAGAGCATGAAGGGCACATATTGGTCTGTTGTCAGGCTCAGCAGCATGGCTGACTAAAGACATTGACATCATGACATTGTCATGTTGCTCTGCTGTTGCCCCTGGCTCTAGCTGGCCTACTTGTAAAGGGAGTGGTGCATGGAGAAGCACAAGGTAACCTCCCAGTGAGCACCTGGCCCACAGAATCCCTTCTTTTCTATAATTCTATTAGGTATCTCTTATGTATTTTAATGTCAAAGTATAATAATATCATAGGGGTGTCTTACATTTATGAAATCTTTCTTAATAATGTTTGAGTTTAGGCCAGGCACAGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGAGGACTGCTTGAGGCCAGGAAGTTTGTGACCAACCTAGCCAACATAGCGAGACCCTGTCTCATAAAATAAAATAATAAAATATAAATGAAAAATAAGCATGTTTAAGTTTAGATCTTTATAGAAGATTTCAAGATCTGCAAATAAATATTATCCCCTCTTTTTTAGACTTCCTGGGAATGAAAATGGTTGGTGAGCTGCTACGAATGTCGGGTGCCTTTTTCATGCGGCGTACCTTTGGTGGCAATAAACTCTACTGGGCTGTATTCTCTGAATATGTAAAAACTATGTTACGGGTAAATGCAAATAATTCCCAACTACTCTTAAGCCATATTTTCTTCACTGATGTTTGCTCATTTAAACTCTTAACTTCTGAATAGAACACTTAGCTATTTTGCTTTCCCTCAAGAACTGCTTATAACCTCAGCAATTGGTTTAATCTGTGTGACTCTCTTGTTTAATTTTCACTGTAAGCTGTGTTTGTTCAGGAAGCTTGGGAGGGAGCTTGGGAAAAGGAATCAAAAGAAGCATTTATCATTTTGAGAGTAGGCAATGGGTTTTGTGTTTTGTTTGTTTTCTCTTTAAAGAATGGTTATGCTCCTGTTGAATTTTTCCTCGAAGGGACAAGAAGCCGCTCTGCCAAGACATTGACTCCTAAATTTGGTAGGTCACTACAGATTAAAAGGAAAAATACAAACCCAAAGACATCAGCTGCTACATAAAACTTGACGCTTTATTTAACAAGATATTCTTTTCAAGTGTAAATGTATAACTGTTGATATTTACGGGATTAGTGTATAATGTATGCTTTTAGTATTTTCCGTTTATGTGCTCATGTTTGCTCTGCTCTTCAATATGTTGATGAAGCATTTCTCCCTGTGTTTTGCAGGTCTTCTGAATATTGTGATGGAGCCATTTTTTAAAAGAGAAGTTTTTGATACCTACCTTGTCCCAATTAGTATCAGTTATGATAAGATCTTGGAAGAAACTCTTTATGTGTATGAGCTTCTAGGGGTTCCTAAACCAAAAGAGTCTACAACTGTACGTGAGCTTGATTTTAGCTTAATTGAGAGAATGTGCTGACTGACACATCAACTAATTTCTAAATTTACTGCTTTTCGTTTTCTTCCCCCCCTGTTATGGTACTATTAGGGGTTGCTGAAAGCCAGAAAGATTCTCTCTGAAAATTTTGGAAGCATCCATGTGTACTTTGGAGATCCTGTGTCACTTCGATCTTTGGCAGCTGGGAGGATGAGTCGGAGCTCATATAACTTGGTTCCAAGGTGTGACCTGTGTTTTAATAACTGTCTTAGAAATGAGGATTAAAATCCAAAGGTGTGAGTTGCAATGCTGGAGTTGACCACTTCTCTTGATTTACTTAAGATTACAGAGAAAATGATCAGAAATGCTGTTATCATTCCGTTTTCATCAGTGGAAACCTTCAATTAAAGAAGAATTATGTGTTTGTCCCAAAAAAAGATAAGCTGTGAGATATGTATGTCAAATATGCAAAATCAGACAATGATCATGTTTCTCAAGGGAACTAAAGTGGGAATAAATAATGCCATTATTAACAAGTATATGTGCAGGAATTGTTGAGCACTATTGGTAAGCTAGCCAAAGTATGTACTATTATTTTTGACCCTAGAAAGGATTGCATAATGGTAATGAATGGGAGTGAGTCCTTAGTCTCTAGAGAGTTATAGTTTTATAGGCAAGAAAATATATTAGGTTCTTTCAGGATAAAGAACACAGATACACATTTGAGTTTTCTTAATTAGGAGAAATATACCTGGACAAGTAAGGGAGACAAACCATCTGCCCCTCCAGGCCTCATGTGCTGCAACATCATTTGTAACTTATCTGTAGCTTTAGCAGTTTCCCAGCAGCTACATTAGTCATCACAGACGCTTATGTTAGTTTTTTTCCTGACACAGGCTCTCTCTTTAGATCTCAAATTGGTTTGGCTGGCTATTACCTAGTACAGGGCACCCTTACTGGCTGCATCTTTCACATTAAGCCACCTGTGTGGCAATTTTTAGGTCATGTGTGTATCTCTGCTCCAGCCAGCTCTGTGCAGGCCTTATTGTACTATTCAAAGTTTGGTAATCCATGCATGAAGTCAGACAAACTGAATGGCACCCATTCAGTATAAAATAGTTATTATATAATCTGTTAAGTGTGTTCTACAATGGAGATATGTTCAGCGTGCTATGCATTCTGAAAAGATAGTAATTTAGTCTACTGGGGCAGGCATCCATTCTCAGAGAAACGATGTA
CTCCAGAACTCTTCATCTTGCAAAACTGAAATGGTACCCATTCAACACACTCCCCGTTCTACCCTCCCCCTGACCCTGGGCAATCAGCATTCTACTTTCTGTCTCTGTGAACTACTCTAGATGCTTGATATAGGTGGAATCATACAGTACTTGTCCTTTTGTGACTGGCATATTTCACTTAACAGAATGCCCTCAAGGTTCATCCATGTTGCAGCATGTGTCAGAATTTCCTTCCTTTTTGAAGTTGGAAATGCATCTGCTCAAGACCCTGCTTTCCATTTTTTTATATATATACAAAAATGGTATATATGGAATTGCTGGGTCTTGTGGTAATTTTTTTTCATTTTTTGAGGAACCACCATACTGCCTTCCTTAGCAGCTGCACCATTTTACATTCCCACCAAAAGTGCACAAGAGTTCCAGTTGTTCTACATCCTTGCCAACACCTGTTATTTTCTGATATGTTTTATAATAATTTTAATGAGTGTGAAGTGGTATCTCCTTGTAGTTTTGATTTGCATTTCCCTAATGATTAGTGATGCTGAGCATCTTTTTTGTGTGCTTATTGGCCATTTGTATATCTTTGGAGAAATGTCTGTTCAAGTCCGTTATTTTTTAATTAGGTTGTTTGGGGCTTTTTTTGTTGAGTTGTAGGAATTGTTTCTACATCCTGGATATTCACCCCTTATCAGACAGATGATTTGCAAATATTATCTTCCATTTCATGGGTTACCTTTTCACTCTGTTGATTGTGTTATTTGATGCATGGAAGTTTTTAATTGATGTAGTCCAATTGATCTATTTGTTTCTTTGGTTCCCTGGTTCCCTGTGCTTTTGGTATCAGATCGAAGAAATCATTGCCAAATCCGAGGTCATGAAGCTTTTCCCTTATGTTTTATCCTAAGAGTTTTATGGTTTCAGGTCTTACATTAAGATCTTTGGTTTTTTGAGTTAATTTTTGTATATGGTGTAAGTTAAGGGTCCAACTTCATGTCTAACATTAATTTTAATAGCCATATAATATTCAGCAGTGTGGATATTTCATAATTTAGTAGTTTTGCTGTTATAAACAATGTCATAATACATTTTTATATTGGTGCTTTTATTCCTGTAAGATCGATTCCTAAAAGTGGGATTGCTAAGGCATATAAGTTGTTTATCCACTCCCTTTTAGGGTAGCCAGGAAAGCCAGGATTCAAGTATACACGTTTGTTAATAAATGCAGTGAATGGTAAGGTTAAAACTGCCAAGAACTTAAGCACTTTAAAAGCATTTTCATCTGAACAAACTTGTGAGGAAGTTATTTGAAAACTAGGGGAAATGAAGAGAAAGACTATTTTAAAACTGCTGGTAGCAATCTTCCTTTCTTACAAGATTTGCCTTATTTAATCTCTTCCAACAAAAGTAGGTTGATGTTTTTTCCTGGTAGGCAAAAGATGAGAGCGGGTTTGGCCTGGCTGTCCAGAGCATGAAGGGCACATATTGGTCTGTTGTCAGGCTCAGCAGCATGGCTGACTAAAGACATTGACATCATGACATTGTCATGTTGCTCTGCTGTTGCCCCTGGCTCTAGCTGGCCTACTTGTAAAGGGAGTGGTGCATGGAGAAGCACAAGGTAACCTCCCAGTGAGCACCTGGCCCACAGAATCCCTTCTTTTCTATAATTCTATTAGGTATCTCTTATGTATTTTAATGTCAAAGTATAATAATATCATAGGGGTGTCTTACATTTATGAAATCTTTCTTAATAATGTTTGAGTTTAGGCCAGGCACAGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGAGGACTGCTTGAGGCCAGGAAGTTTGTGACCAACCTAGCCAACATAGCGAGACCCTGTCTCATAAAATAAAATAATAAAATATAAATGAAAAATAAGCATGTTTAAGTTTAGATCTTTATAGAAGATTTCAAGATCTGCAAATAAATATTATCCCCTCTTTTTTAGACTTCCTGGGAATGAAAATGGTTGGTGAGCTGCTACGAATGTCGGGTGCCTTTTTCATGCGGCATACCTTTGGTGGCAATAAACTCTACTGGGCTGTATTCTCTGAATATGTAAAAACTATGTTACGGGTAAATGCAAATAATTCCCAACTACTCTTAAGCCATATTTTCTTCACTGATGTTTGCTCATTTAAACTCTTAACTTCTGAATAGAACACTTAGCTATTTTGCTTTCCCTCAAGAACTGCTTATAACCTCAGCAATTGGTTTAATCTGTGTGACTCTCTTGTTTAATTTTCACTGTAAGCTGTGTTTGTTCAGGAAGCTTGGGAGGGAGCTTGGGAAAAGGAATCAAAAGAAGCATTTATCATTTTGAGAGTAGGCAATGGGTTTTGTGTTTTGTTTGTTTTCTCTTTAAAGAATGGTTATGCTCCTGTTGAATTTTTCCTCGAAGGGACAAGAAGCCGCTCTGCCAAGACATTGACTCCTAAATTTGGTAGGTCACTACAGATTAAAAGGAAAAATACAAACCCAAAGACATCAGCTGCTACATAAAACTTGACGCTTTATTTAACAAGATATTCTTTTCAAGTGTAAATGTATAACTGTTGATATTTACGGGATTAGTGTATAATGTATGCTTTTAGTATTTTCCGTTTATGTGCTCATGTTTGCTCTGCTCTTCAATATGTTGATGAAGCATTTCTCCCTGTGTTTTGCAGGTCTTCTGAATATTGTGATGGAGCCATTTTTTAAAAGAGAAGTTTTTGATACCTACCTTGTCCCAATTAGTATCAGTTATGATAAGATCTTGGAAGAAACTCTTTATGTGTATGAGCTTCTAGGGGTTCCTAAACCAAAAGAGTCTACAACTGTACGTGAGCTTGATTTTAGCTTAATTGAGAGAATGTGCTGACTGACACATCAACTAATTTCTAAATTTACTGCTTTTCGTTTTCTTCCCCCCCTGTTATGGTACTATTAGGGGTTGCTGAAAGCCAGAAAGATTCTCTCTGAAAATTTTGGAAGCATCCATGTGTACTTTGGAGATCCTGTGTCACTTCGATCTTTGGCAGCTGGGAGGATGAGTCGGAGCTCATATAACTTGGTTCCAAGGTGTGACCTGTGTTTTAATAACTGTCTTAGAAATGAGGATTAAAATCCAAAGGTGTGAGTTGCAATGCTGGAGTTGACCACTTCTCTTGATTTACTTAAGATTACAGAGAAAATGATCAGAAATGCTGTTATCATTCCGTTTTCATCAGTGGAAACCTTCAATTAAAGAAGAATTATGTGTTTGTCCCAAAAAAAGATAAGCTGTGAGATATGTATGTCAAATATGCAAAATCAGACAATGATCATGTTTCTCAAGGGAACTAAAGTGGGAATAAATAATGCCATTATTAACAAGTATATGTGCAGGAATTGTTGAGCACTATTGGTAAGCTAGCCAAAGTATGTACTATTATTTTTGACCCTAGAAAGGATTGCATAATGGTAATGAATGGGAGTGAGTCCTTAGTCTCTAGAGAGTTATAGTTTTATAGGCAAGAAAATATATTAGGTTCTTTCAGGATAAAGAACACAGATACACATTTGAGTTTTCTTAATTAGGAGAAATATACCTGGACAAGTAAGGGAGACAAACCATCTGCCCCTCCAGGCCTCATGTGCTGCAACATCATTTGTAACTTATCTGTAGCTTTAGCAGTTTCCCAGCAGCTACATTAGTCATCACAGACGCTTATGTTAGTTTTTTTCCTGACACAGGCTCTCTCTTTAGATCTCAAATTGGTTTGGCTGGCTATTACCTAGTACAGGGCACCCTTACTGGCTGCATCTTTCACATTAAGCCACCTGTGTGGCAATTTTTAGGTCATGTGTGTATCTCTGCTCCAGCCAGCTCTGTGCAGGCCTTATTGTACTATTCAAAGTTTGGTAATCCATGCATGAAGTCAGACAAACTGAATGGCACCCATTCAGTATAAAATAGTTATTATATAATCTGTTAAGTGTGTTCTACAATGGAGATATGTTCAGCGTGCTATGCATTCTGAAAAGATAGTAATTTAGTCTACTGGGGCAGGCATCCATTCTCAGAGAAACGATGTA
Task1_train_2876
This is a variant in SPRTN (SprT-like N-terminal domain), located on Chromosome 1. Is this mutation a likely cause of disease or not?
Pathogenic; Progeroid features-hepatocellular carcinoma predisposition syndrome
TTGATAAGCAATAAATAACATCCTAGTGTAGTGTTGGGTTTTTGTGGGGGTTTTTTGTTTTTTGAGACAGGGTCTTGCTGGGTTGTCCAGGCTGGAGGTAATCATAGCTCACTGCAACCTTGAATTCATGGCCTCAAGTGATCCTCCCATCTCCGCCTCCTGAGTAGCTAGGACTACAGATGCACAAGCTAATTGTTTTATTTTTATTTTTATTTTTTTGTAGAGACAAGGTCTCACTATGTTGACCAGGCTGGTTTTGAACTCCTGGCCTCGAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCCTGACCATCCTAGTGTAGTATTAATTCGCATTTCTCTTTTTATAAATAAAGTTGGGCATTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGGTCTGTCATCAGGCTGGAGTGCAGTGGTGCATTCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGCCTCCTGAGTATACTGCTCGGACTACAGGCGGGCGCAACTATGCCCAGCCAAAATTTTTTTTTTTTTTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGAGCAGGATGGTCTCAATGTCCTGACCTCGTGATCCGGAAGTTGGGCGTTTTTTCATTTGTTTGTGGGTCATTTATACTTCTTCTGTGAACTCCATGGTCTTTGCCCATTTTGAAATTGGGTTGTCATTCCCTGTTGACATTAGGAGCTCCTTGTATATTAGGAATAGCCTGTGATAAGAGTTATACATATATTTTTCTGAGTTTGTCTTTTTACTTGGTGTTTTTTTCCTATAGAATTTTAAAGTTTTGTCTGGGTGCAGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATTGCTTGAGGTCAGGAGTTTAAGACCATCCTTGCCAATATGGCCAAACCCCATCTCTACTAAAATACAAAAATTAGCCAGGCATGGTGGTGCACACCTGTAGTGCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGGACCGAGGAGGCAGAGCTTGCAGTGAGGAGAGATTGAGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACCCTGTCTCAAAAAAAAAAGAATTTTAAAGTTTTTATGTAGTTGAATTCATTGATTTTTCTGGATTTTGATATATAGTCAAAAAGGTCTTCCTAGAACAGGGAGTTCTTAACCTGTGATTTTCAGAGCTTTAGATGTTACACAAATTTGAGTACCCCTTCTCTGAAATGCCTGGGACTAGAAGTGTCTTGGATTTCAGATTTATTTGGATTTTGGAATATTTGTGTTATTCTTACAGGTGGAGCATCCCAAATCTGAAAATCCGCAATGCTCCAATGAGCATTTCCTTTTGAGTGTCATGTCATTGCTCAAGAGTTTCTGATTTTGGAGCATTTTGGATTTTCAGAGTTGGGATGCTCAACTCATATGCAATATTTTGTGAATGAGTGCTTATATAATTTTTATAGAATGAGGTGGGTTTTTTGTTGTTGTTGTTTTGTTTTTGTGAGACAGTGTCTCATTCTGTCCCCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCACTGCAGCGTCAACCTCCCCAGGCTCAGAGGATCCTCCCACCTCAGCCTCCTGAGTGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTTTGTAGAGACAGGGTTTCGCCATGTTGCCCAGGTTGGTCTCCAACCCCTGGGCTCAAGTGACCCTCCCACCTTTGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTAGAATGAGTTTTATCAGTTCTGAAGGAAGCCTGTGATACAGAAAAGGTTAGACACCAGATAGAATAAGAAAATTTATATTTTCCAAAGTGTCATACAGACTCTAAAACTAATTTGAATATTTTATGTTCCAGACCCTCCTGCATGAAATGATACATGCCTATTTATTTGTCACTAATAACGACAAAGACCGAGAAGGGCATGGTCCAGAATTTTGTAAACATATGCATCGCATCAACAGCCTGACTGGAGCCAATATAACGGTATAGAAAGCCATATCTATTTATGATGTTTAGTAGTTGTTTATTCAATAACTCCTGAGATTTAATTAAAAGTAGAGAACTAGGTAGAAACAAGTATCTTTGAGGATTTTCCACAGCGAACGAGAGGCCTAGAGAAGCAAATTGGCTTGTCTGGGACTACATGGTGGAATGGCAGCAGAGCCAGTGATATCCCTGAGGCCTCTGACCTCTTCTGAGTCAACATTTTACACACAGGTAATTCAGGCCTGCAGTACGTCACTTCTGGAATCATCATGATCTCTTAACTTTGTTTCCTTATTATTGTCTTTTTTAGTCCATCCTGTATCCTGCTACCATTGCAGATGTCATTCCCTCATCAGAATTCTTCTTTGATTCATATCTCTGTATAGCATTGTAGGAGATAGCAAAGCCTCAGGTTCAAAAAGCTGGAGGCGTCAGGCTGCTTGGATTCAAATCCTGGCTCCACCAATTATTAACTTTCCTATGCCTCATTTTATACCCATGGCAAATGAGAGTAGTAACAATACCTATCTGTTGGATCCTTGTGAGGAGAAAGGATTAAAGGAGAAAGCACATCAAAACATTTTAGCCCAATCTGACACTAATTAAATATTAGTTTTATTGTATTCATTTTATTAAATAACCTTGTTCCTTTTTTACTGCCTCCAACTCTGCTGCCTGTGTCCTGTCTCTTTAACTGCACTTTTGACCTCCCTGCCTTTCCTCAGGTGTAGCTTCCCTGAGGCGTGCCACTGCTCTGTTTTGTGTCCGAATGCTTTTCATCGTTCCAGTGGCATCTCATTTCTCCCTCTTTTGAATCCTCAGCAGATATTTAAGCTATTACAATTTTTTATGCTACTTTCATACTTTTGAACGCAGGGTAGGTCTTGCCCATCTTTATAGTACATCTGTATAAGGTGTATAATGTACTGAATTGAATATTAATAGGATAGATTAAATTCTTTCTTATGTTTGGGTATTTCCTTCCTTTAAAAGGCAACAAAATCCACTGTGATAGAAAATGAACAGTGCTCAACCGCCATGTTTTGTTTATTTATTTATTTAAGATAGGGTCTTGCTCTGTTGCCCAGGCTGGATGCAGTGGTGCATTCATAGCCCACTGCAGATTCAACCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGGCTACAGATGTGTGCCACCATGTCAAGCTAATTTAAAAAAAAATTTTTTTTTTTAGAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCATGGGTTCAAGTGATCCTCCCATCTCAGCCTCCCAAAGTGGTGGGATTATAGACATGAGCTACCATGCCTGGCCTCTCCATGTATTACTATTTTCTAGCTATCAGTTTTAATTTTCTAAAGACTTCATTTCATTATTAGACACAGTTACTTCAACATTAGGAAAGTGTCTTGCAGTTTTTAAAAAAATCAGACATAAAATCCGGGTTAGCAAGAGAATTATAGACTTGCTTGTATAAAATACATTAAGTTTCTTAACCAGAACTTATACTTTAAGCAAAGCCCTTGTATACGTCCCATTGTTCAGCTGGAAGAGTATCTGTTCTTTTATCTTAGATATCTGTGTGTTTTTATTTAGGAGAGGTTGTAAGGAGTGAACACTCCTTGCTTTTACAGGTTACATCCTGTTATAAGGAACTCTGCAGGGTATCTACATTGTAGAGTAATTTTATTTTAGTGACTACATTGTTAAAAGTCACATTCCCAAGCGTTAGGAGTTACAGGAATTGGAAGCAGAACAGATCCAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGAGGGTAACTTGAGCCCAGGTGTTTGAGATCAGCCTGGGCAATTTAGTGAGACCTTGTTTCCACAAAAAAAATTCAAAAATTAGCTAATC
TTGATAAGCAATAAATAACATCCTAGTGTAGTGTTGGGTTTTTGTGGGGGTTTTTTGTTTTTTGAGACAGGGTCTTGCTGGGTTGTCCAGGCTGGAGGTAATCATAGCTCACTGCAACCTTGAATTCATGGCCTCAAGTGATCCTCCCATCTCCGCCTCCTGAGTAGCTAGGACTACAGATGCACAAGCTAATTGTTTTATTTTTATTTTTATTTTTTTGTAGAGACAAGGTCTCACTATGTTGACCAGGCTGGTTTTGAACTCCTGGCCTCGAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCCTGACCATCCTAGTGTAGTATTAATTCGCATTTCTCTTTTTATAAATAAAGTTGGGCATTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGGTCTGTCATCAGGCTGGAGTGCAGTGGTGCATTCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGCCTCCTGAGTATACTGCTCGGACTACAGGCGGGCGCAACTATGCCCAGCCAAAATTTTTTTTTTTTTTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGAGCAGGATGGTCTCAATGTCCTGACCTCGTGATCCGGAAGTTGGGCGTTTTTTCATTTGTTTGTGGGTCATTTATACTTCTTCTGTGAACTCCATGGTCTTTGCCCATTTTGAAATTGGGTTGTCATTCCCTGTTGACATTAGGAGCTCCTTGTATATTAGGAATAGCCTGTGATAAGAGTTATACATATATTTTTCTGAGTTTGTCTTTTTACTTGGTGTTTTTTTCCTATAGAATTTTAAAGTTTTGTCTGGGTGCAGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATTGCTTGAGGTCAGGAGTTTAAGACCATCCTTGCCAATATGGCCAAACCCCATCTCTACTAAAATACAAAAATTAGCCAGGCATGGTGGTGCACACCTGTAGTGCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGGACCGAGGAGGCAGAGCTTGCAGTGAGGAGAGATTGAGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACCCTGTCTCAAAAAAAAAAGAATTTTAAAGTTTTTATGTAGTTGAATTCATTGATTTTTCTGGATTTTGATATATAGTCAAAAAGGTCTTCCTAGAACAGGGAGTTCTTAACCTGTGATTTTCAGAGCTTTAGATGTTACACAAATTTGAGTACCCCTTCTCTGAAATGCCTGGGACTAGAAGTGTCTTGGATTTCAGATTTATTTGGATTTTGGAATATTTGTGTTATTCTTACAGGTGGAGCATCCCAAATCTGAAAATCCGCAATGCTCCAATGAGCATTTCCTTTTGAGTGTCATGTCATTGCTCAAGAGTTTCTGATTTTGGAGCATTTTGGATTTTCAGAGTTGGGATGCTCAACTCATATGCAATATTTTGTGAATGAGTGCTTATATAATTTTTATAGAATGAGGTGGGTTTTTTGTTGTTGTTGTTTTGTTTTTGTGAGACAGTGTCTCATTCTGTCCCCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCACTGCAGCGTCAACCTCCCCAGGCTCAGAGGATCCTCCCACCTCAGCCTCCTGAGTGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTTTGTAGAGACAGGGTTTCGCCATGTTGCCCAGGTTGGTCTCCAACCCCTGGGCTCAAGTGACCCTCCCACCTTTGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTAGAATGAGTTTTATCAGTTCTGAAGGAAGCCTGTGATACAGAAAAGGTTAGACACCAGATAGAATAAGAAAATTTATATTTTCCAAAGTGTCATACAGACTCTAAAACTAATTTGAATATTTTATGTTCCAGACCCTCCTGCATGAAATGATACATGCCTGTTTATTTGTCACTAATAACGACAAAGACCGAGAAGGGCATGGTCCAGAATTTTGTAAACATATGCATCGCATCAACAGCCTGACTGGAGCCAATATAACGGTATAGAAAGCCATATCTATTTATGATGTTTAGTAGTTGTTTATTCAATAACTCCTGAGATTTAATTAAAAGTAGAGAACTAGGTAGAAACAAGTATCTTTGAGGATTTTCCACAGCGAACGAGAGGCCTAGAGAAGCAAATTGGCTTGTCTGGGACTACATGGTGGAATGGCAGCAGAGCCAGTGATATCCCTGAGGCCTCTGACCTCTTCTGAGTCAACATTTTACACACAGGTAATTCAGGCCTGCAGTACGTCACTTCTGGAATCATCATGATCTCTTAACTTTGTTTCCTTATTATTGTCTTTTTTAGTCCATCCTGTATCCTGCTACCATTGCAGATGTCATTCCCTCATCAGAATTCTTCTTTGATTCATATCTCTGTATAGCATTGTAGGAGATAGCAAAGCCTCAGGTTCAAAAAGCTGGAGGCGTCAGGCTGCTTGGATTCAAATCCTGGCTCCACCAATTATTAACTTTCCTATGCCTCATTTTATACCCATGGCAAATGAGAGTAGTAACAATACCTATCTGTTGGATCCTTGTGAGGAGAAAGGATTAAAGGAGAAAGCACATCAAAACATTTTAGCCCAATCTGACACTAATTAAATATTAGTTTTATTGTATTCATTTTATTAAATAACCTTGTTCCTTTTTTACTGCCTCCAACTCTGCTGCCTGTGTCCTGTCTCTTTAACTGCACTTTTGACCTCCCTGCCTTTCCTCAGGTGTAGCTTCCCTGAGGCGTGCCACTGCTCTGTTTTGTGTCCGAATGCTTTTCATCGTTCCAGTGGCATCTCATTTCTCCCTCTTTTGAATCCTCAGCAGATATTTAAGCTATTACAATTTTTTATGCTACTTTCATACTTTTGAACGCAGGGTAGGTCTTGCCCATCTTTATAGTACATCTGTATAAGGTGTATAATGTACTGAATTGAATATTAATAGGATAGATTAAATTCTTTCTTATGTTTGGGTATTTCCTTCCTTTAAAAGGCAACAAAATCCACTGTGATAGAAAATGAACAGTGCTCAACCGCCATGTTTTGTTTATTTATTTATTTAAGATAGGGTCTTGCTCTGTTGCCCAGGCTGGATGCAGTGGTGCATTCATAGCCCACTGCAGATTCAACCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGGCTACAGATGTGTGCCACCATGTCAAGCTAATTTAAAAAAAAATTTTTTTTTTTAGAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCATGGGTTCAAGTGATCCTCCCATCTCAGCCTCCCAAAGTGGTGGGATTATAGACATGAGCTACCATGCCTGGCCTCTCCATGTATTACTATTTTCTAGCTATCAGTTTTAATTTTCTAAAGACTTCATTTCATTATTAGACACAGTTACTTCAACATTAGGAAAGTGTCTTGCAGTTTTTAAAAAAATCAGACATAAAATCCGGGTTAGCAAGAGAATTATAGACTTGCTTGTATAAAATACATTAAGTTTCTTAACCAGAACTTATACTTTAAGCAAAGCCCTTGTATACGTCCCATTGTTCAGCTGGAAGAGTATCTGTTCTTTTATCTTAGATATCTGTGTGTTTTTATTTAGGAGAGGTTGTAAGGAGTGAACACTCCTTGCTTTTACAGGTTACATCCTGTTATAAGGAACTCTGCAGGGTATCTACATTGTAGAGTAATTTTATTTTAGTGACTACATTGTTAAAAGTCACATTCCCAAGCGTTAGGAGTTACAGGAATTGGAAGCAGAACAGATCCAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGAGGGTAACTTGAGCCCAGGTGTTTGAGATCAGCCTGGGCAATTTAGTGAGACCTTGTTTCCACAAAAAAAATTCAAAAATTAGCTAATC
Task1_train_2877
This gene mutation involves EGLN1 (egl-9 family hypoxia inducible factor 1) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
Pathogenic; Erythrocytosis, familial, 3
AATACTACAAAAGACATACTTTCTGATACAAATAATGGGGAAAATGTATAAACGCTATAGGAAGTGAAAGTACGCTACAAATCACCAGTTCCTGGGCAGAATATAGCAATTAGTTCAAATATATTGTGGATTGTGGCCAGTGGACACAGGGGAAAAGGCAACATTTATCAGACATACAGCCAGTAATATGACAGAATGAAAAATCACATAATGTATTTTGAAGTAAAGAGTCTGGGAGTTTGGACAACTGGGAGCCTGACGTTTACAGACCCCACCACTGGTGAATCACAGAGCTGAGGTCTAAGGAGGTCTCCTGACTTCCAGACCAGACTCTGCTCTTTCCAGAGTTCCACTACCTTTCTTACCATGTGGCTTCTTCTACTTTTGGGTGGCCTTGGAAATAGGAAAGGGCTCAGATACATAATTTTATGTATCTTTTGCCCATGCCCTAAACTTTTAGTCACTTAGCAATCAGAATTCTAATATCTGGATCAACAACTTACCTTATGTCATTCTAACTTTCCAGCCTTATCACCCATTCTAGATAAGATCAGAATAGGATTCTACTTCAAGAATCCTTTTCGTCGCATGATTTTCCATGCCTTAACTTGAACAACTACGCCTTTTCCCCCAGAACTTTACTAACACGACTGCACCCCTTGCCTCTCCTCACCTAGGCCAGCTGAGCCTCTCCCTTCAAAGCGCACTTGCCCGTCTCTCCAATGTAGCACCACCTTCGTTCCTCAACTCCTGTAGCACTTAGCCTCCATGCCATCTGGCATTTATTTACTATAAACTCCCAAGTATCTGTTATTTATTCATCTAAAAAGGACGTAACCAAACCAAACTCAGGATTTCATAAAAAGGAAGGTCTATGAGGCAGTTACTGTGTCAGAAAATCTTTACAGAAGCAGCAGGGGGCAGAGACAGCACTGGGATGCCACTGGGAAGAGACATGGGATTGAAAAGGGCACATCATGTGATGTGACAGTCTTTCTTTGGTTTCCATTCAGGATTTCTTACAATCTCCAGCTACAACCTGCTTAGCTTGCTACTCAGTACGTGAATTAGGATGCAGGCAACACACCTCAGAAGGCAGGAAGAAAAAAGGCACAGCTGATAATCAAGTCGTTAGAGTCAACCATCATTACTAAAGCCAACTCTCCACCCAGCGCATCTAAGCCTGTGCCTCTTCTTGCCACCCTAGCATCTCCTAAGCCAGATACAGCAAATGAATGCCGGAAGCTCACTATCAGAATGTTCCAAGACCTTTCCATAATAAAAAATAAGTATTTTTTTTTAATGTGCTATTTTTCTACAAATATTTACTTTCATGATAATGTCTACAATATCTTGTTTTCACAGCCAGAGCATTTTAATTGAGTCAGGATAAATGGTTTTTAAAAAAGCATTTGAAATAAAGCACTAAATATAATAGGTTGCAAATACCTTGTAGAAAAAGTATAATGAAACAGATGCTCATTATTTGTAAAGCTAATAGGATCATTTTTCTAACATTAACTCCCACACATGGTAACCTGTTCTCTACTTTTCTTTCTTCTGTTTTTCTCTTCACTTCTACTCTCTGGTTACCTCTGATTTTTCTACTCTGTATCCATTTTCCTATGTTGTCCCTCACCACCTTTTAAAAAACCCTTTTCCTTCTTGATCTTTCTCTCTCCCAAGTAAAATACTCTTACAAAAATCAAAGCATGGATAGTAGTTAAGAGATGCACAAAGCACGGAGAGAGTGCTAGAAAGATGGGAAGGCCTGTGCTTCCCTTTCTTCAGAGTGGCTGTGCAAAGAAAGACACATTTAGTACTAACTGTTAATGAGTCTTATATAATTATTTGAATTCAGATGACTGTGCAACATAAATCTTATACAATTATTCAAATTAAAATGACTGTGAAAAGTACCTGGCAGGAAAATACTCATTAGAAAGCTTTCACGTTTACTCTACAGATTCCCTCCTGTCCTACCATACTCTAAACCAATTTTTTCTGAAAAGGAATACTACCTTGTAGCATATGCTGGTTGTACTTCATGAGGGTTGCGACGGTCAGACCAGAAAAACAGCAGTCTATCAAATTTGGGTTCAATGTCAGCAAACTGGGCTTTGCCTTCTGGAAAAATTCGAAGTATACCTCCACTTACCTAGGAAAAGAGCCAAATATGTAAGCAGGAGTAACCAAAAATGCTACAAGATTAAATTTAGGGGGAAAAAAAGAGACAATTTCAATGTCTTAATTGGATTATTCACAAATACGTCTCAATAAAGTATGAAGATGAGCTGCAATTTTAAAAGTATATGCACTGATGCAAGGACAAATTTAGTTCTTATTTTAGGGATATTTATTTATTTATTGAGATGGAGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGCAATTCTCCTGTCTCAGCATCGCGAGTAGCTGGGATTACAGGCATGCGCCACCATGTCCAGCTAATTTTTGCATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGTATTACAGGTGTGAGCCACTGTCCCCAGCCATTTTAGGGATTTTTATAAATATCTGATGAAACACAAGAATGTTATCTGAATTTAAAAGTCTTAAAATGATGCTTGAAAGCTTTTAAAACTACTAAACGTTTATTTTTGTATGTTAATGATTTGCTTAACCCACCCTTCAAATAGATAGATTTCAAGAAATTTTGACAAAATTATTATTAGAAATAAATTATGTCAAATAGTTTACCATACTTTAAAATTCAATAAACAATAGGATAGTCACAAATACCTCTTACTTAAATAATTCAGTATATCAGTAGAAAGTGTCATCATTTATTATGACCATCATTATTGTCGTCGTCACCATCACCATCAGCATATAGTTCATTAGAACCTGTGGCTCTCCCTTTCCAGACTGGGCCTGATGCACAGATGACTACCTGCTTGTGAAACTTGATTCTACCCATAAAGGATTATTATTTACCTAAACACCAACTAGGCATCAAATCGCACTGGGAACTGTGGTGGGCTCTGGGTGCAGAGTAGGGAATAATGCAGACAGACTTTGTCCTTGCGGGGTTTACGATCTGGGGATAGGCAAAACCCAACCAACCAAGTAGCTCCTTACTCTTGAATAACTACACTCCTAAGCAGGTAGACTCTTAAAATTTAAAGAAACTCTAACACCTGGTCAGGACAACATGGCGTTTGAGCCTAAACCTAGAATCTATAGTTAAAGAAAAGGTTTATCAGGCTCACTGTCAGGTAAGTTAAATTCTAGCTACTTTGATACCCTTGCCAACCTTCCTCAGGTTCCAGTGTTGTTCAGAGTGATTCCCCAGGCTACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACTGACACACTACATATTCAGTGCAATCTAGCATGGAAAATTTCTATTCTACACACAAAAACACTAGGGACGTTTCTCTGCCTATGTCCTAATTTAAAACCTACACATTAATGACCCTGACTAAGTATTATAGAAATTATAAGATCAGCCTAGAAAAAGCCTAACAAAATCTAGAAGTTAGAAGCTGATGAAACACAGTTCTAGCTTTCTAGCTATTCACAAAATCTGAAAAAAAGTCAATTTTTAAATTTTAACTAAAGTTACACCCATCTGTTTTGTGCCTTGGGCTCAAATTCAATTACAAAATTTATTTCTCTACTTCAAACT
AATACTACAAAAGACATACTTTCTGATACAAATAATGGGGAAAATGTATAAACGCTATAGGAAGTGAAAGTACGCTACAAATCACCAGTTCCTGGGCAGAATATAGCAATTAGTTCAAATATATTGTGGATTGTGGCCAGTGGACACAGGGGAAAAGGCAACATTTATCAGACATACAGCCAGTAATATGACAGAATGAAAAATCACATAATGTATTTTGAAGTAAAGAGTCTGGGAGTTTGGACAACTGGGAGCCTGACGTTTACAGACCCCACCACTGGTGAATCACAGAGCTGAGGTCTAAGGAGGTCTCCTGACTTCCAGACCAGACTCTGCTCTTTCCAGAGTTCCACTACCTTTCTTACCATGTGGCTTCTTCTACTTTTGGGTGGCCTTGGAAATAGGAAAGGGCTCAGATACATAATTTTATGTATCTTTTGCCCATGCCCTAAACTTTTAGTCACTTAGCAATCAGAATTCTAATATCTGGATCAACAACTTACCTTATGTCATTCTAACTTTCCAGCCTTATCACCCATTCTAGATAAGATCAGAATAGGATTCTACTTCAAGAATCCTTTTCGTCGCATGATTTTCCATGCCTTAACTTGAACAACTACGCCTTTTCCCCCAGAACTTTACTAACACGACTGCACCCCTTGCCTCTCCTCACCTAGGCCAGCTGAGCCTCTCCCTTCAAAGCGCACTTGCCCGTCTCTCCAATGTAGCACCACCTTCGTTCCTCAACTCCTGTAGCACTTAGCCTCCATGCCATCTGGCATTTATTTACTATAAACTCCCAAGTATCTGTTATTTATTCATCTAAAAAGGACGTAACCAAACCAAACTCAGGATTTCATAAAAAGGAAGGTCTATGAGGCAGTTACTGTGTCAGAAAATCTTTACAGAAGCAGCAGGGGGCAGAGACAGCACTGGGATGCCACTGGGAAGAGACATGGGATTGAAAAGGGCACATCATGTGATGTGACAGTCTTTCTTTGGTTTCCATTCAGGATTTCTTACAATCTCCAGCTACAACCTGCTTAGCTTGCTACTCAGTACGTGAATTAGGATGCAGGCAACACACCTCAGAAGGCAGGAAGAAAAAAGGCACAGCTGATAATCAAGTCGTTAGAGTCAACCATCATTACTAAAGCCAACTCTCCACCCAGCGCATCTAAGCCTGTGCCTCTTCTTGCCACCCTAGCATCTCCTAAGCCAGATACAGCAAATGAATGCCGGAAGCTCACTATCAGAATGTTCCAAGACCTTTCCATAATAAAAAATAAGTATTTTTTTTTAATGTGCTATTTTTCTACAAATATTTACTTTCATGATAATGTCTACAATATCTTGTTTTCACAGCCAGAGCATTTTAATTGAGTCAGGATAAATGGTTTTTAAAAAAGCATTTGAAATAAAGCACTAAATATAATAGGTTGCAAATACCTTGTAGAAAAAGTATAATGAAACAGATGCTCATTATTTGTAAAGCTAATAGGATCATTTTTCTAACATTAACTCCCACACATGGTAACCTGTTCTCTACTTTTCTTTCTTCTGTTTTTCTCTTCACTTCTACTCTCTGGTTACCTCTGATTTTTCTACTCTGTATCCATTTTCCTATGTTGTCCCTCACCACCTTTTAAAAAACCCTTTTCCTTCTTGATCTTTCTCTCTCCCAAGTAAAATACTCTTACAAAAATCAAAGCATGGATAGTAGTTAAGAGATGCACAAAGCACGGAGAGAGTGCTAGAAAGATGGGAAGGCCTGTGCTTCCCTTTCTTCAGAGTGGCTGTGCAAAGAAAGACACATTTAGTACTAACTGTTAATGAGTCTTATATAATTATTTGAATTCAGATGACTGTGCAACATAAATCTTATACAATTATTCAAATTAAAATGACTGTGAAAAGTACCTGGCAGGAAAATACTCATTAGAAAGCTTTCACGTTTACTCTACAGATTCCCTCCTGTCCTACCATACTCTAAACCAATTTTTTCTGAAAAGGAATACTACCTTGTAGCATATGCTGGTTGTACTTCACGAGGGTTGCGACGGTCAGACCAGAAAAACAGCAGTCTATCAAATTTGGGTTCAATGTCAGCAAACTGGGCTTTGCCTTCTGGAAAAATTCGAAGTATACCTCCACTTACCTAGGAAAAGAGCCAAATATGTAAGCAGGAGTAACCAAAAATGCTACAAGATTAAATTTAGGGGGAAAAAAAGAGACAATTTCAATGTCTTAATTGGATTATTCACAAATACGTCTCAATAAAGTATGAAGATGAGCTGCAATTTTAAAAGTATATGCACTGATGCAAGGACAAATTTAGTTCTTATTTTAGGGATATTTATTTATTTATTGAGATGGAGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGCAATTCTCCTGTCTCAGCATCGCGAGTAGCTGGGATTACAGGCATGCGCCACCATGTCCAGCTAATTTTTGCATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGTATTACAGGTGTGAGCCACTGTCCCCAGCCATTTTAGGGATTTTTATAAATATCTGATGAAACACAAGAATGTTATCTGAATTTAAAAGTCTTAAAATGATGCTTGAAAGCTTTTAAAACTACTAAACGTTTATTTTTGTATGTTAATGATTTGCTTAACCCACCCTTCAAATAGATAGATTTCAAGAAATTTTGACAAAATTATTATTAGAAATAAATTATGTCAAATAGTTTACCATACTTTAAAATTCAATAAACAATAGGATAGTCACAAATACCTCTTACTTAAATAATTCAGTATATCAGTAGAAAGTGTCATCATTTATTATGACCATCATTATTGTCGTCGTCACCATCACCATCAGCATATAGTTCATTAGAACCTGTGGCTCTCCCTTTCCAGACTGGGCCTGATGCACAGATGACTACCTGCTTGTGAAACTTGATTCTACCCATAAAGGATTATTATTTACCTAAACACCAACTAGGCATCAAATCGCACTGGGAACTGTGGTGGGCTCTGGGTGCAGAGTAGGGAATAATGCAGACAGACTTTGTCCTTGCGGGGTTTACGATCTGGGGATAGGCAAAACCCAACCAACCAAGTAGCTCCTTACTCTTGAATAACTACACTCCTAAGCAGGTAGACTCTTAAAATTTAAAGAAACTCTAACACCTGGTCAGGACAACATGGCGTTTGAGCCTAAACCTAGAATCTATAGTTAAAGAAAAGGTTTATCAGGCTCACTGTCAGGTAAGTTAAATTCTAGCTACTTTGATACCCTTGCCAACCTTCCTCAGGTTCCAGTGTTGTTCAGAGTGATTCCCCAGGCTACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACTGACACACTACATATTCAGTGCAATCTAGCATGGAAAATTTCTATTCTACACACAAAAACACTAGGGACGTTTCTCTGCCTATGTCCTAATTTAAAACCTACACATTAATGACCCTGACTAAGTATTATAGAAATTATAAGATCAGCCTAGAAAAAGCCTAACAAAATCTAGAAGTTAGAAGCTGATGAAACACAGTTCTAGCTTTCTAGCTATTCACAAAATCTGAAAAAAAGTCAATTTTTAAATTTTAACTAAAGTTACACCCATCTGTTTTGTGCCTTGGGCTCAAATTCAATTACAAAATTTATTTCTCTACTTCAAACT
Task1_train_2878
A change on Chromosome 1 affects gene EGLN1 (egl-9 family hypoxia inducible factor 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Erythrocytosis, familial, 3
AAAGACATACTTTCTGATACAAATAATGGGGAAAATGTATAAACGCTATAGGAAGTGAAAGTACGCTACAAATCACCAGTTCCTGGGCAGAATATAGCAATTAGTTCAAATATATTGTGGATTGTGGCCAGTGGACACAGGGGAAAAGGCAACATTTATCAGACATACAGCCAGTAATATGACAGAATGAAAAATCACATAATGTATTTTGAAGTAAAGAGTCTGGGAGTTTGGACAACTGGGAGCCTGACGTTTACAGACCCCACCACTGGTGAATCACAGAGCTGAGGTCTAAGGAGGTCTCCTGACTTCCAGACCAGACTCTGCTCTTTCCAGAGTTCCACTACCTTTCTTACCATGTGGCTTCTTCTACTTTTGGGTGGCCTTGGAAATAGGAAAGGGCTCAGATACATAATTTTATGTATCTTTTGCCCATGCCCTAAACTTTTAGTCACTTAGCAATCAGAATTCTAATATCTGGATCAACAACTTACCTTATGTCATTCTAACTTTCCAGCCTTATCACCCATTCTAGATAAGATCAGAATAGGATTCTACTTCAAGAATCCTTTTCGTCGCATGATTTTCCATGCCTTAACTTGAACAACTACGCCTTTTCCCCCAGAACTTTACTAACACGACTGCACCCCTTGCCTCTCCTCACCTAGGCCAGCTGAGCCTCTCCCTTCAAAGCGCACTTGCCCGTCTCTCCAATGTAGCACCACCTTCGTTCCTCAACTCCTGTAGCACTTAGCCTCCATGCCATCTGGCATTTATTTACTATAAACTCCCAAGTATCTGTTATTTATTCATCTAAAAAGGACGTAACCAAACCAAACTCAGGATTTCATAAAAAGGAAGGTCTATGAGGCAGTTACTGTGTCAGAAAATCTTTACAGAAGCAGCAGGGGGCAGAGACAGCACTGGGATGCCACTGGGAAGAGACATGGGATTGAAAAGGGCACATCATGTGATGTGACAGTCTTTCTTTGGTTTCCATTCAGGATTTCTTACAATCTCCAGCTACAACCTGCTTAGCTTGCTACTCAGTACGTGAATTAGGATGCAGGCAACACACCTCAGAAGGCAGGAAGAAAAAAGGCACAGCTGATAATCAAGTCGTTAGAGTCAACCATCATTACTAAAGCCAACTCTCCACCCAGCGCATCTAAGCCTGTGCCTCTTCTTGCCACCCTAGCATCTCCTAAGCCAGATACAGCAAATGAATGCCGGAAGCTCACTATCAGAATGTTCCAAGACCTTTCCATAATAAAAAATAAGTATTTTTTTTTAATGTGCTATTTTTCTACAAATATTTACTTTCATGATAATGTCTACAATATCTTGTTTTCACAGCCAGAGCATTTTAATTGAGTCAGGATAAATGGTTTTTAAAAAAGCATTTGAAATAAAGCACTAAATATAATAGGTTGCAAATACCTTGTAGAAAAAGTATAATGAAACAGATGCTCATTATTTGTAAAGCTAATAGGATCATTTTTCTAACATTAACTCCCACACATGGTAACCTGTTCTCTACTTTTCTTTCTTCTGTTTTTCTCTTCACTTCTACTCTCTGGTTACCTCTGATTTTTCTACTCTGTATCCATTTTCCTATGTTGTCCCTCACCACCTTTTAAAAAACCCTTTTCCTTCTTGATCTTTCTCTCTCCCAAGTAAAATACTCTTACAAAAATCAAAGCATGGATAGTAGTTAAGAGATGCACAAAGCACGGAGAGAGTGCTAGAAAGATGGGAAGGCCTGTGCTTCCCTTTCTTCAGAGTGGCTGTGCAAAGAAAGACACATTTAGTACTAACTGTTAATGAGTCTTATATAATTATTTGAATTCAGATGACTGTGCAACATAAATCTTATACAATTATTCAAATTAAAATGACTGTGAAAAGTACCTGGCAGGAAAATACTCATTAGAAAGCTTTCACGTTTACTCTACAGATTCCCTCCTGTCCTACCATACTCTAAACCAATTTTTTCTGAAAAGGAATACTACCTTGTAGCATATGCTGGTTGTACTTCATGAGGGTTGCGACGGTCAGACCAGAAAAACAGCAGTCTATCAAATTTGGGTTCAATGTCAGCAAACTGGGCTTTGCCTTCTGGAAAAATTCGAAGTATACCTCCACTTACCTAGGAAAAGAGCCAAATATGTAAGCAGGAGTAACCAAAAATGCTACAAGATTAAATTTAGGGGGAAAAAAAGAGACAATTTCAATGTCTTAATTGGATTATTCACAAATACGTCTCAATAAAGTATGAAGATGAGCTGCAATTTTAAAAGTATATGCACTGATGCAAGGACAAATTTAGTTCTTATTTTAGGGATATTTATTTATTTATTGAGATGGAGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGCAATTCTCCTGTCTCAGCATCGCGAGTAGCTGGGATTACAGGCATGCGCCACCATGTCCAGCTAATTTTTGCATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGTATTACAGGTGTGAGCCACTGTCCCCAGCCATTTTAGGGATTTTTATAAATATCTGATGAAACACAAGAATGTTATCTGAATTTAAAAGTCTTAAAATGATGCTTGAAAGCTTTTAAAACTACTAAACGTTTATTTTTGTATGTTAATGATTTGCTTAACCCACCCTTCAAATAGATAGATTTCAAGAAATTTTGACAAAATTATTATTAGAAATAAATTATGTCAAATAGTTTACCATACTTTAAAATTCAATAAACAATAGGATAGTCACAAATACCTCTTACTTAAATAATTCAGTATATCAGTAGAAAGTGTCATCATTTATTATGACCATCATTATTGTCGTCGTCACCATCACCATCAGCATATAGTTCATTAGAACCTGTGGCTCTCCCTTTCCAGACTGGGCCTGATGCACAGATGACTACCTGCTTGTGAAACTTGATTCTACCCATAAAGGATTATTATTTACCTAAACACCAACTAGGCATCAAATCGCACTGGGAACTGTGGTGGGCTCTGGGTGCAGAGTAGGGAATAATGCAGACAGACTTTGTCCTTGCGGGGTTTACGATCTGGGGATAGGCAAAACCCAACCAACCAAGTAGCTCCTTACTCTTGAATAACTACACTCCTAAGCAGGTAGACTCTTAAAATTTAAAGAAACTCTAACACCTGGTCAGGACAACATGGCGTTTGAGCCTAAACCTAGAATCTATAGTTAAAGAAAAGGTTTATCAGGCTCACTGTCAGGTAAGTTAAATTCTAGCTACTTTGATACCCTTGCCAACCTTCCTCAGGTTCCAGTGTTGTTCAGAGTGATTCCCCAGGCTACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACTGACACACTACATATTCAGTGCAATCTAGCATGGAAAATTTCTATTCTACACACAAAAACACTAGGGACGTTTCTCTGCCTATGTCCTAATTTAAAACCTACACATTAATGACCCTGACTAAGTATTATAGAAATTATAAGATCAGCCTAGAAAAAGCCTAACAAAATCTAGAAGTTAGAAGCTGATGAAACACAGTTCTAGCTTTCTAGCTATTCACAAAATCTGAAAAAAAGTCAATTTTTAAATTTTAACTAAAGTTACACCCATCTGTTTTGTGCCTTGGGCTCAAATTCAATTACAAAATTTATTTCTCTACTTCAAACTTTGAAAGCT
AAAGACATACTTTCTGATACAAATAATGGGGAAAATGTATAAACGCTATAGGAAGTGAAAGTACGCTACAAATCACCAGTTCCTGGGCAGAATATAGCAATTAGTTCAAATATATTGTGGATTGTGGCCAGTGGACACAGGGGAAAAGGCAACATTTATCAGACATACAGCCAGTAATATGACAGAATGAAAAATCACATAATGTATTTTGAAGTAAAGAGTCTGGGAGTTTGGACAACTGGGAGCCTGACGTTTACAGACCCCACCACTGGTGAATCACAGAGCTGAGGTCTAAGGAGGTCTCCTGACTTCCAGACCAGACTCTGCTCTTTCCAGAGTTCCACTACCTTTCTTACCATGTGGCTTCTTCTACTTTTGGGTGGCCTTGGAAATAGGAAAGGGCTCAGATACATAATTTTATGTATCTTTTGCCCATGCCCTAAACTTTTAGTCACTTAGCAATCAGAATTCTAATATCTGGATCAACAACTTACCTTATGTCATTCTAACTTTCCAGCCTTATCACCCATTCTAGATAAGATCAGAATAGGATTCTACTTCAAGAATCCTTTTCGTCGCATGATTTTCCATGCCTTAACTTGAACAACTACGCCTTTTCCCCCAGAACTTTACTAACACGACTGCACCCCTTGCCTCTCCTCACCTAGGCCAGCTGAGCCTCTCCCTTCAAAGCGCACTTGCCCGTCTCTCCAATGTAGCACCACCTTCGTTCCTCAACTCCTGTAGCACTTAGCCTCCATGCCATCTGGCATTTATTTACTATAAACTCCCAAGTATCTGTTATTTATTCATCTAAAAAGGACGTAACCAAACCAAACTCAGGATTTCATAAAAAGGAAGGTCTATGAGGCAGTTACTGTGTCAGAAAATCTTTACAGAAGCAGCAGGGGGCAGAGACAGCACTGGGATGCCACTGGGAAGAGACATGGGATTGAAAAGGGCACATCATGTGATGTGACAGTCTTTCTTTGGTTTCCATTCAGGATTTCTTACAATCTCCAGCTACAACCTGCTTAGCTTGCTACTCAGTACGTGAATTAGGATGCAGGCAACACACCTCAGAAGGCAGGAAGAAAAAAGGCACAGCTGATAATCAAGTCGTTAGAGTCAACCATCATTACTAAAGCCAACTCTCCACCCAGCGCATCTAAGCCTGTGCCTCTTCTTGCCACCCTAGCATCTCCTAAGCCAGATACAGCAAATGAATGCCGGAAGCTCACTATCAGAATGTTCCAAGACCTTTCCATAATAAAAAATAAGTATTTTTTTTTAATGTGCTATTTTTCTACAAATATTTACTTTCATGATAATGTCTACAATATCTTGTTTTCACAGCCAGAGCATTTTAATTGAGTCAGGATAAATGGTTTTTAAAAAAGCATTTGAAATAAAGCACTAAATATAATAGGTTGCAAATACCTTGTAGAAAAAGTATAATGAAACAGATGCTCATTATTTGTAAAGCTAATAGGATCATTTTTCTAACATTAACTCCCACACATGGTAACCTGTTCTCTACTTTTCTTTCTTCTGTTTTTCTCTTCACTTCTACTCTCTGGTTACCTCTGATTTTTCTACTCTGTATCCATTTTCCTATGTTGTCCCTCACCACCTTTTAAAAAACCCTTTTCCTTCTTGATCTTTCTCTCTCCCAAGTAAAATACTCTTACAAAAATCAAAGCATGGATAGTAGTTAAGAGATGCACAAAGCACGGAGAGAGTGCTAGAAAGATGGGAAGGCCTGTGCTTCCCTTTCTTCAGAGTGGCTGTGCAAAGAAAGACACATTTAGTACTAACTGTTAATGAGTCTTATATAATTATTTGAATTCAGATGACTGTGCAACATAAATCTTATACAATTATTCAAATTAAAATGACTGTGAAAAGTACCTGGCAGGAAAATACTCATTAGAAAGCTTTCACGTTTACTCTACAGATTCCCTCCTGTCCTACCATACTCTAAACCAATTTTTTCTGAAAAGGAATACTACCTTGTAGCATATGCTGGTTGTACTTCATGAGGGTTGTGACGGTCAGACCAGAAAAACAGCAGTCTATCAAATTTGGGTTCAATGTCAGCAAACTGGGCTTTGCCTTCTGGAAAAATTCGAAGTATACCTCCACTTACCTAGGAAAAGAGCCAAATATGTAAGCAGGAGTAACCAAAAATGCTACAAGATTAAATTTAGGGGGAAAAAAAGAGACAATTTCAATGTCTTAATTGGATTATTCACAAATACGTCTCAATAAAGTATGAAGATGAGCTGCAATTTTAAAAGTATATGCACTGATGCAAGGACAAATTTAGTTCTTATTTTAGGGATATTTATTTATTTATTGAGATGGAGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGCAATTCTCCTGTCTCAGCATCGCGAGTAGCTGGGATTACAGGCATGCGCCACCATGTCCAGCTAATTTTTGCATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGTATTACAGGTGTGAGCCACTGTCCCCAGCCATTTTAGGGATTTTTATAAATATCTGATGAAACACAAGAATGTTATCTGAATTTAAAAGTCTTAAAATGATGCTTGAAAGCTTTTAAAACTACTAAACGTTTATTTTTGTATGTTAATGATTTGCTTAACCCACCCTTCAAATAGATAGATTTCAAGAAATTTTGACAAAATTATTATTAGAAATAAATTATGTCAAATAGTTTACCATACTTTAAAATTCAATAAACAATAGGATAGTCACAAATACCTCTTACTTAAATAATTCAGTATATCAGTAGAAAGTGTCATCATTTATTATGACCATCATTATTGTCGTCGTCACCATCACCATCAGCATATAGTTCATTAGAACCTGTGGCTCTCCCTTTCCAGACTGGGCCTGATGCACAGATGACTACCTGCTTGTGAAACTTGATTCTACCCATAAAGGATTATTATTTACCTAAACACCAACTAGGCATCAAATCGCACTGGGAACTGTGGTGGGCTCTGGGTGCAGAGTAGGGAATAATGCAGACAGACTTTGTCCTTGCGGGGTTTACGATCTGGGGATAGGCAAAACCCAACCAACCAAGTAGCTCCTTACTCTTGAATAACTACACTCCTAAGCAGGTAGACTCTTAAAATTTAAAGAAACTCTAACACCTGGTCAGGACAACATGGCGTTTGAGCCTAAACCTAGAATCTATAGTTAAAGAAAAGGTTTATCAGGCTCACTGTCAGGTAAGTTAAATTCTAGCTACTTTGATACCCTTGCCAACCTTCCTCAGGTTCCAGTGTTGTTCAGAGTGATTCCCCAGGCTACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACTGACACACTACATATTCAGTGCAATCTAGCATGGAAAATTTCTATTCTACACACAAAAACACTAGGGACGTTTCTCTGCCTATGTCCTAATTTAAAACCTACACATTAATGACCCTGACTAAGTATTATAGAAATTATAAGATCAGCCTAGAAAAAGCCTAACAAAATCTAGAAGTTAGAAGCTGATGAAACACAGTTCTAGCTTTCTAGCTATTCACAAAATCTGAAAAAAAGTCAATTTTTAAATTTTAACTAAAGTTACACCCATCTGTTTTGTGCCTTGGGCTCAAATTCAATTACAAAATTTATTTCTCTACTTCAAACTTTGAAAGCT
Task1_train_2879
A variant was discovered on Chromosome 1, affecting EGLN1 (egl-9 family hypoxia inducible factor 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Erythrocytosis, familial, 3
TACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACTGACACACTACATATTCAGTGCAATCTAGCATGGAAAATTTCTATTCTACACACAAAAACACTAGGGACGTTTCTCTGCCTATGTCCTAATTTAAAACCTACACATTAATGACCCTGACTAAGTATTATAGAAATTATAAGATCAGCCTAGAAAAAGCCTAACAAAATCTAGAAGTTAGAAGCTGATGAAACACAGTTCTAGCTTTCTAGCTATTCACAAAATCTGAAAAAAAGTCAATTTTTAAATTTTAACTAAAGTTACACCCATCTGTTTTGTGCCTTGGGCTCAAATTCAATTACAAAATTTATTTCTCTACTTCAAACTTTGAAAGCTGTAACAGAAAAACCATGCTTGTTGACATGCCTCAATATATACTCAGCAGAAAGGTCAGCTCCATTTTGAACCTGGACTAGGGCAGAGAAAACTCTTTAAATCAGTGTGTTTTAGAAAGATTAGTGAAGCACTGTGAGCATATTCTAAACTTAAAACACTTTTTAGGGCAGGATTAGGTTTTTGCACATTTAAGACTCAGGCAGTTTCCATTTGTGTGTTTTGGGGGATGCAGAGAAAGAGGTTTTTTAAAGGTTATTTGACTTAAAAACAACAAAAAAAGGCACCCTGGCTACACAGGTATGTTCACTTTGTGAAAATCCACTGAACTATACAAGCCACTTTTCTATTTGAATGTTATACTTAAGATTTTAAAAAATCAACCAAAAAATTAGTCTGTACAGTCTCTAGTGTAGTAATATATGACATATTTTTTAAAAATCATTTAAATTTAATGAGACTCAGGCTAATATTAAGGAAATATATATTTAAAACAAGAGAGATTAAATATATTGTACATTCTAATTGGTTTTACAGGGCTTGTCAGTACTGATAAACTTCCAGTTTTTTAATAATCAGGGAAAGACTGAATCCTGCCTCCAATATTCAATTAAACAACTCAATGCCATATAATATTTTTACAAAAATGCCAAGAATAACATAGCAAATAATCCTTAACAATTATCCATAGATAATCTCCCCCAAAAGCCATTATAAAACAACTGTTCTCAGAAATGTTTTTCTAAAAACTATTAAAAGGAAAATATTTTAATAAAGGTCACCTTTCTAAAAAAGTTAGATTTTAGATAAGTGCTCTAACATCTGAAAATAAATGAATCCACTTTTTAAGATATATCAGTACTTTTTTATATGGTTTTGAGGTATAACTGATATACAAAAATGCATATCTTTAACATTTACAATTTGATGAGTTTGGATATATACGCACACCCTCATGACACACCACAACCAAGGTAATAAACATATCCATCACCTCTCAAAGTTCCGTTTCCCTTCCCCTAACCTCGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTTTAGAACACTGAACATGGAGTCTACCCTCTTAAATTTTTAAGTGCACAACACTACGTTGTTAACTACAGGTATCATGTTGTATAACATAGAGTAGTATTTGTTTCATTTTACAAAAATCCACTCCTAATACCTGAGACTGAAACAAATTTAAGAGGAAAATTTTTAACTGTGTCTGTGACAGTCTTATCAGAAGTATGAAACTTAATGCTTTTGAGAAAAAGACACCTGTAAGAAAAAAATAAATGCTCAATTAAGTTGCATACCTTGGCATCCCAGTCTTTATTAAGATAATATATACATGTCACACATCTTCCATCTCCATTTGGATTATCAACATGACGTACATAACCCGTTCCATTGCCCGGATAACAAGCAACCATGGCCTGTAATAATGATAATAATGATTATTAAAGTCCATGTATAAATAAAAAGAGAGAACAGCTAATAAATCAGATCTCTGATTTTTGGCTACTGATTTACACTTAGATTCTTCTAATAAAAATAATATTTTGTAGATAAGATAAGGCTATTCTACATTAACATTTATAGGGAACACAAGATAGGTTGATGAACAAGGACTGGTGAATTCTGCTTCACAGTGATAACTCCAAAGATCAGAAAAATTTCTTGGTCCTACTTTGACAATCTTTATAAATACAGATAATCAAGATCAAGTACGTTTTTGTCCTGCTCCATGGGAGATTTCAATCTTCCTTGAGCTCACCTCAGAACACCTACTTTACCATCTGATAGGTGAACCAACCCAGTCAACACCCCATCTGACACTGTCTCTGAATGGTACCAATTTTTTTTTTTTTTGAGACAGGGTCTGGCTCTGTTGCTCAGGTTCGAGTGCAGTGATGCAATCATGGCTCACTGCGGCCTCAACCTCCTGGGCTCAGGTGATTCTCCCACCTCAGCCTCCTAAGTAGCTAGGACTATAAGCACGTGTCACCAGGCTGGTTAATTTTTGTATTTTTTGTAGATATGGTGTCTTACTATGTTGTAATAGGGATAATTTAGGAGGTCAACTAAACTCCAAACATTAACTCATTTAGTGTCAGTGATTTTTTTTTAAAAAAAGGACTAAACAAATTAGCTTATGTTTACCCTCTTTCAATCAGAAAGAAAATTATTTGCTCAGATTATAACAAGATATGGTTCAGAAGACTGTTGGATGTTAAGCTTAAAGGTAGAAAAGAGGCCCAAAATAAAAAGCACAAAATAACTTCCATATTCTAGGTGTACATGATAATTAACTGAAATTGGTAATGGTATTTTTTAAAAAATTCTCAGGAATTATGAAGAAAACAAACAAAGACGTTCAAGGTTATGAGCTATTCTTGTTTTTGTTTGTTTTTTTACAGAGTCTTGCTCTGTTGACCAGGCTAGAGTGCAGTGGCACGATCTCAGCTCACTGCCTCCACCTTCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTGCCAGGCCCGGCTAATTTTTGTATTTTTAGTAGATACAGGGTTTCACCATGTTGGCCAAGCTGGTCTTAAACTCCTGACCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCTTGAGCCACCACGCCACCCGGTTTGTTATGAGCTATTCTTGAAGTCCTTTATTTCTTCATATAATAAAGTCAATGAATTAGTATAAAGTTATCAAACAGTAACCGAATTGTTCTACTATCATATTAAAAGAAAAATGCTAATTTTTAAAACTCACTTCCCATCCCTAAGAAACTAAGAGGCATCTTAAACCTAAATCCTTATTTAAAAATCCTGTTTCCCTAGACACTCTGAATTCACTGCTCTTTATAAGCAGCAGAATTTTTGGAGAACATTATATATGTCTCTGTTTTTCCTGATTCCAGACAGACTTAACAAGTTCCTTCTTTCAGCACTGGAGGTTGGTAACAACCAGGAGTGTGGCATGGGCTTAGTGGGTTTAAGTGCTCAATAAATGATGAGCCCAAATGATTTTCTTGTCACTAGCTACCCAGGAAAGAAGTTTACCTTGAATAGTAACTGTAAGAGGGTACTAATTTAACAATGCAATTACTCCATTTGTGGTTAACTGAAGTAATTATGATGAATTACACAATATATTGTTATTCATGGGAAAGAAGGGGGAAACCTGAACTCTACATCTCAAAAAAGTTAATTTGGGCCTTTCCAACTATCTGGTAACTTCAGCATCTCTTGTGTAAAGAAGGAAGGGGAAAATATTTGTCAGTCACTCACCCCATCACATCCCATATATCCATTTAACAAATACCTCTTGAACATCGACTATGTATATGAAAGGCACTGGGGCTAAAACG
TACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACTGACACACTACATATTCAGTGCAATCTAGCATGGAAAATTTCTATTCTACACACAAAAACACTAGGGACGTTTCTCTGCCTATGTCCTAATTTAAAACCTACACATTAATGACCCTGACTAAGTATTATAGAAATTATAAGATCAGCCTAGAAAAAGCCTAACAAAATCTAGAAGTTAGAAGCTGATGAAACACAGTTCTAGCTTTCTAGCTATTCACAAAATCTGAAAAAAAGTCAATTTTTAAATTTTAACTAAAGTTACACCCATCTGTTTTGTGCCTTGGGCTCAAATTCAATTACAAAATTTATTTCTCTACTTCAAACTTTGAAAGCTGTAACAGAAAAACCATGCTTGTTGACATGCCTCAATATATACTCAGCAGAAAGGTCAGCTCCATTTTGAACCTGGACTAGGGCAGAGAAAACTCTTTAAATCAGTGTGTTTTAGAAAGATTAGTGAAGCACTGTGAGCATATTCTAAACTTAAAACACTTTTTAGGGCAGGATTAGGTTTTTGCACATTTAAGACTCAGGCAGTTTCCATTTGTGTGTTTTGGGGGATGCAGAGAAAGAGGTTTTTTAAAGGTTATTTGACTTAAAAACAACAAAAAAAGGCACCCTGGCTACACAGGTATGTTCACTTTGTGAAAATCCACTGAACTATACAAGCCACTTTTCTATTTGAATGTTATACTTAAGATTTTAAAAAATCAACCAAAAAATTAGTCTGTACAGTCTCTAGTGTAGTAATATATGACATATTTTTTAAAAATCATTTAAATTTAATGAGACTCAGGCTAATATTAAGGAAATATATATTTAAAACAAGAGAGATTAAATATATTGTACATTCTAATTGGTTTTACAGGGCTTGTCAGTACTGATAAACTTCCAGTTTTTTAATAATCAGGGAAAGACTGAATCCTGCCTCCAATATTCAATTAAACAACTCAATGCCATATAATATTTTTACAAAAATGCCAAGAATAACATAGCAAATAATCCTTAACAATTATCCATAGATAATCTCCCCCAAAAGCCATTATAAAACAACTGTTCTCAGAAATGTTTTTCTAAAAACTATTAAAAGGAAAATATTTTAATAAAGGTCACCTTTCTAAAAAAGTTAGATTTTAGATAAGTGCTCTAACATCTGAAAATAAATGAATCCACTTTTTAAGATATATCAGTACTTTTTTATATGGTTTTGAGGTATAACTGATATACAAAAATGCATATCTTTAACATTTACAATTTGATGAGTTTGGATATATACGCACACCCTCATGACACACCACAACCAAGGTAATAAACATATCCATCACCTCTCAAAGTTCCGTTTCCCTTCCCCTAACCTCGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTTTAGAACACTGAACATGGAGTCTACCCTCTTAAATTTTTAAGTGCACAACACTACGTTGTTAACTACAGGTATCATGTTGTATAACATAGAGTAGTATTTGTTTCATTTTACAAAAATCCACTCCTAATACCTGAGACTGAAACAAATTTAAGAGGAAAATTTTTAACTGTGTCTGTGACAGTCTTATCAGAAGTATGAAACTTAATGCTTTTGAGAAAAAGACACCTGTAAGAAAAAAATAAATGCTCAATTAAGTTGCATACCTTGGCATCCCAGTCTTTATTAAGATAATATATACATGTCACACATCTTCCATCTCCATTTCGATTATCAACATGACGTACATAACCCGTTCCATTGCCCGGATAACAAGCAACCATGGCCTGTAATAATGATAATAATGATTATTAAAGTCCATGTATAAATAAAAAGAGAGAACAGCTAATAAATCAGATCTCTGATTTTTGGCTACTGATTTACACTTAGATTCTTCTAATAAAAATAATATTTTGTAGATAAGATAAGGCTATTCTACATTAACATTTATAGGGAACACAAGATAGGTTGATGAACAAGGACTGGTGAATTCTGCTTCACAGTGATAACTCCAAAGATCAGAAAAATTTCTTGGTCCTACTTTGACAATCTTTATAAATACAGATAATCAAGATCAAGTACGTTTTTGTCCTGCTCCATGGGAGATTTCAATCTTCCTTGAGCTCACCTCAGAACACCTACTTTACCATCTGATAGGTGAACCAACCCAGTCAACACCCCATCTGACACTGTCTCTGAATGGTACCAATTTTTTTTTTTTTTGAGACAGGGTCTGGCTCTGTTGCTCAGGTTCGAGTGCAGTGATGCAATCATGGCTCACTGCGGCCTCAACCTCCTGGGCTCAGGTGATTCTCCCACCTCAGCCTCCTAAGTAGCTAGGACTATAAGCACGTGTCACCAGGCTGGTTAATTTTTGTATTTTTTGTAGATATGGTGTCTTACTATGTTGTAATAGGGATAATTTAGGAGGTCAACTAAACTCCAAACATTAACTCATTTAGTGTCAGTGATTTTTTTTTAAAAAAAGGACTAAACAAATTAGCTTATGTTTACCCTCTTTCAATCAGAAAGAAAATTATTTGCTCAGATTATAACAAGATATGGTTCAGAAGACTGTTGGATGTTAAGCTTAAAGGTAGAAAAGAGGCCCAAAATAAAAAGCACAAAATAACTTCCATATTCTAGGTGTACATGATAATTAACTGAAATTGGTAATGGTATTTTTTAAAAAATTCTCAGGAATTATGAAGAAAACAAACAAAGACGTTCAAGGTTATGAGCTATTCTTGTTTTTGTTTGTTTTTTTACAGAGTCTTGCTCTGTTGACCAGGCTAGAGTGCAGTGGCACGATCTCAGCTCACTGCCTCCACCTTCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTGCCAGGCCCGGCTAATTTTTGTATTTTTAGTAGATACAGGGTTTCACCATGTTGGCCAAGCTGGTCTTAAACTCCTGACCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCTTGAGCCACCACGCCACCCGGTTTGTTATGAGCTATTCTTGAAGTCCTTTATTTCTTCATATAATAAAGTCAATGAATTAGTATAAAGTTATCAAACAGTAACCGAATTGTTCTACTATCATATTAAAAGAAAAATGCTAATTTTTAAAACTCACTTCCCATCCCTAAGAAACTAAGAGGCATCTTAAACCTAAATCCTTATTTAAAAATCCTGTTTCCCTAGACACTCTGAATTCACTGCTCTTTATAAGCAGCAGAATTTTTGGAGAACATTATATATGTCTCTGTTTTTCCTGATTCCAGACAGACTTAACAAGTTCCTTCTTTCAGCACTGGAGGTTGGTAACAACCAGGAGTGTGGCATGGGCTTAGTGGGTTTAAGTGCTCAATAAATGATGAGCCCAAATGATTTTCTTGTCACTAGCTACCCAGGAAAGAAGTTTACCTTGAATAGTAACTGTAAGAGGGTACTAATTTAACAATGCAATTACTCCATTTGTGGTTAACTGAAGTAATTATGATGAATTACACAATATATTGTTATTCATGGGAAAGAAGGGGGAAACCTGAACTCTACATCTCAAAAAAGTTAATTTGGGCCTTTCCAACTATCTGGTAACTTCAGCATCTCTTGTGTAAAGAAGGAAGGGGAAAATATTTGTCAGTCACTCACCCCATCACATCCCATATATCCATTTAACAAATACCTCTTGAACATCGACTATGTATATGAAAGGCACTGGGGCTAAAACG
Task1_train_2880
The gene EGLN1 (egl-9 family hypoxia inducible factor 1) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; not specified
TACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACTGACACACTACATATTCAGTGCAATCTAGCATGGAAAATTTCTATTCTACACACAAAAACACTAGGGACGTTTCTCTGCCTATGTCCTAATTTAAAACCTACACATTAATGACCCTGACTAAGTATTATAGAAATTATAAGATCAGCCTAGAAAAAGCCTAACAAAATCTAGAAGTTAGAAGCTGATGAAACACAGTTCTAGCTTTCTAGCTATTCACAAAATCTGAAAAAAAGTCAATTTTTAAATTTTAACTAAAGTTACACCCATCTGTTTTGTGCCTTGGGCTCAAATTCAATTACAAAATTTATTTCTCTACTTCAAACTTTGAAAGCTGTAACAGAAAAACCATGCTTGTTGACATGCCTCAATATATACTCAGCAGAAAGGTCAGCTCCATTTTGAACCTGGACTAGGGCAGAGAAAACTCTTTAAATCAGTGTGTTTTAGAAAGATTAGTGAAGCACTGTGAGCATATTCTAAACTTAAAACACTTTTTAGGGCAGGATTAGGTTTTTGCACATTTAAGACTCAGGCAGTTTCCATTTGTGTGTTTTGGGGGATGCAGAGAAAGAGGTTTTTTAAAGGTTATTTGACTTAAAAACAACAAAAAAAGGCACCCTGGCTACACAGGTATGTTCACTTTGTGAAAATCCACTGAACTATACAAGCCACTTTTCTATTTGAATGTTATACTTAAGATTTTAAAAAATCAACCAAAAAATTAGTCTGTACAGTCTCTAGTGTAGTAATATATGACATATTTTTTAAAAATCATTTAAATTTAATGAGACTCAGGCTAATATTAAGGAAATATATATTTAAAACAAGAGAGATTAAATATATTGTACATTCTAATTGGTTTTACAGGGCTTGTCAGTACTGATAAACTTCCAGTTTTTTAATAATCAGGGAAAGACTGAATCCTGCCTCCAATATTCAATTAAACAACTCAATGCCATATAATATTTTTACAAAAATGCCAAGAATAACATAGCAAATAATCCTTAACAATTATCCATAGATAATCTCCCCCAAAAGCCATTATAAAACAACTGTTCTCAGAAATGTTTTTCTAAAAACTATTAAAAGGAAAATATTTTAATAAAGGTCACCTTTCTAAAAAAGTTAGATTTTAGATAAGTGCTCTAACATCTGAAAATAAATGAATCCACTTTTTAAGATATATCAGTACTTTTTTATATGGTTTTGAGGTATAACTGATATACAAAAATGCATATCTTTAACATTTACAATTTGATGAGTTTGGATATATACGCACACCCTCATGACACACCACAACCAAGGTAATAAACATATCCATCACCTCTCAAAGTTCCGTTTCCCTTCCCCTAACCTCGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTTTAGAACACTGAACATGGAGTCTACCCTCTTAAATTTTTAAGTGCACAACACTACGTTGTTAACTACAGGTATCATGTTGTATAACATAGAGTAGTATTTGTTTCATTTTACAAAAATCCACTCCTAATACCTGAGACTGAAACAAATTTAAGAGGAAAATTTTTAACTGTGTCTGTGACAGTCTTATCAGAAGTATGAAACTTAATGCTTTTGAGAAAAAGACACCTGTAAGAAAAAAATAAATGCTCAATTAAGTTGCATACCTTGGCATCCCAGTCTTTATTAAGATAATATATACATGTCACACATCTTCCATCTCCATTTGGATTATCAACATGACGTACATAACCCGTTCCATTGCCCGGATAACAAGCAACCATGGCCTGTAATAATGATAATAATGATTATTAAAGTCCATGTATAAATAAAAAGAGAGAACAGCTAATAAATCAGATCTCTGATTTTTGGCTACTGATTTACACTTAGATTCTTCTAATAAAAATAATATTTTGTAGATAAGATAAGGCTATTCTACATTAACATTTATAGGGAACACAAGATAGGTTGATGAACAAGGACTGGTGAATTCTGCTTCACAGTGATAACTCCAAAGATCAGAAAAATTTCTTGGTCCTACTTTGACAATCTTTATAAATACAGATAATCAAGATCAAGTACGTTTTTGTCCTGCTCCATGGGAGATTTCAATCTTCCTTGAGCTCACCTCAGAACACCTACTTTACCATCTGATAGGTGAACCAACCCAGTCAACACCCCATCTGACACTGTCTCTGAATGGTACCAATTTTTTTTTTTTTTGAGACAGGGTCTGGCTCTGTTGCTCAGGTTCGAGTGCAGTGATGCAATCATGGCTCACTGCGGCCTCAACCTCCTGGGCTCAGGTGATTCTCCCACCTCAGCCTCCTAAGTAGCTAGGACTATAAGCACGTGTCACCAGGCTGGTTAATTTTTGTATTTTTTGTAGATATGGTGTCTTACTATGTTGTAATAGGGATAATTTAGGAGGTCAACTAAACTCCAAACATTAACTCATTTAGTGTCAGTGATTTTTTTTTAAAAAAAGGACTAAACAAATTAGCTTATGTTTACCCTCTTTCAATCAGAAAGAAAATTATTTGCTCAGATTATAACAAGATATGGTTCAGAAGACTGTTGGATGTTAAGCTTAAAGGTAGAAAAGAGGCCCAAAATAAAAAGCACAAAATAACTTCCATATTCTAGGTGTACATGATAATTAACTGAAATTGGTAATGGTATTTTTTAAAAAATTCTCAGGAATTATGAAGAAAACAAACAAAGACGTTCAAGGTTATGAGCTATTCTTGTTTTTGTTTGTTTTTTTACAGAGTCTTGCTCTGTTGACCAGGCTAGAGTGCAGTGGCACGATCTCAGCTCACTGCCTCCACCTTCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTGCCAGGCCCGGCTAATTTTTGTATTTTTAGTAGATACAGGGTTTCACCATGTTGGCCAAGCTGGTCTTAAACTCCTGACCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCTTGAGCCACCACGCCACCCGGTTTGTTATGAGCTATTCTTGAAGTCCTTTATTTCTTCATATAATAAAGTCAATGAATTAGTATAAAGTTATCAAACAGTAACCGAATTGTTCTACTATCATATTAAAAGAAAAATGCTAATTTTTAAAACTCACTTCCCATCCCTAAGAAACTAAGAGGCATCTTAAACCTAAATCCTTATTTAAAAATCCTGTTTCCCTAGACACTCTGAATTCACTGCTCTTTATAAGCAGCAGAATTTTTGGAGAACATTATATATGTCTCTGTTTTTCCTGATTCCAGACAGACTTAACAAGTTCCTTCTTTCAGCACTGGAGGTTGGTAACAACCAGGAGTGTGGCATGGGCTTAGTGGGTTTAAGTGCTCAATAAATGATGAGCCCAAATGATTTTCTTGTCACTAGCTACCCAGGAAAGAAGTTTACCTTGAATAGTAACTGTAAGAGGGTACTAATTTAACAATGCAATTACTCCATTTGTGGTTAACTGAAGTAATTATGATGAATTACACAATATATTGTTATTCATGGGAAAGAAGGGGGAAACCTGAACTCTACATCTCAAAAAAGTTAATTTGGGCCTTTCCAACTATCTGGTAACTTCAGCATCTCTTGTGTAAAGAAGGAAGGGGAAAATATTTGTCAGTCACTCACCCCATCACATCCCATATATCCATTTAACAAATACCTCTTGAACATCGACTATGTATATGAAAGGCACTGGGGCTAAAACG
TACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACTGACACACTACATATTCAGTGCAATCTAGCATGGAAAATTTCTATTCTACACACAAAAACACTAGGGACGTTTCTCTGCCTATGTCCTAATTTAAAACCTACACATTAATGACCCTGACTAAGTATTATAGAAATTATAAGATCAGCCTAGAAAAAGCCTAACAAAATCTAGAAGTTAGAAGCTGATGAAACACAGTTCTAGCTTTCTAGCTATTCACAAAATCTGAAAAAAAGTCAATTTTTAAATTTTAACTAAAGTTACACCCATCTGTTTTGTGCCTTGGGCTCAAATTCAATTACAAAATTTATTTCTCTACTTCAAACTTTGAAAGCTGTAACAGAAAAACCATGCTTGTTGACATGCCTCAATATATACTCAGCAGAAAGGTCAGCTCCATTTTGAACCTGGACTAGGGCAGAGAAAACTCTTTAAATCAGTGTGTTTTAGAAAGATTAGTGAAGCACTGTGAGCATATTCTAAACTTAAAACACTTTTTAGGGCAGGATTAGGTTTTTGCACATTTAAGACTCAGGCAGTTTCCATTTGTGTGTTTTGGGGGATGCAGAGAAAGAGGTTTTTTAAAGGTTATTTGACTTAAAAACAACAAAAAAAGGCACCCTGGCTACACAGGTATGTTCACTTTGTGAAAATCCACTGAACTATACAAGCCACTTTTCTATTTGAATGTTATACTTAAGATTTTAAAAAATCAACCAAAAAATTAGTCTGTACAGTCTCTAGTGTAGTAATATATGACATATTTTTTAAAAATCATTTAAATTTAATGAGACTCAGGCTAATATTAAGGAAATATATATTTAAAACAAGAGAGATTAAATATATTGTACATTCTAATTGGTTTTACAGGGCTTGTCAGTACTGATAAACTTCCAGTTTTTTAATAATCAGGGAAAGACTGAATCCTGCCTCCAATATTCAATTAAACAACTCAATGCCATATAATATTTTTACAAAAATGCCAAGAATAACATAGCAAATAATCCTTAACAATTATCCATAGATAATCTCCCCCAAAAGCCATTATAAAACAACTGTTCTCAGAAATGTTTTTCTAAAAACTATTAAAAGGAAAATATTTTAATAAAGGTCACCTTTCTAAAAAAGTTAGATTTTAGATAAGTGCTCTAACATCTGAAAATAAATGAATCCACTTTTTAAGATATATCAGTACTTTTTTATATGGTTTTGAGGTATAACTGATATACAAAAATGCATATCTTTAACATTTACAATTTGATGAGTTTGGATATATACGCACACCCTCATGACACACCACAACCAAGGTAATAAACATATCCATCACCTCTCAAAGTTCCGTTTCCCTTCCCCTAACCTCGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTTTAGAACACTGAACATGGAGTCTACCCTCTTAAATTTTTAAGTGCACAACACTACGTTGTTAACTACAGGTATCATGTTGTATAACATAGAGTAGTATTTGTTTCATTTTACAAAAATCCACTCCTAATACCTGAGACTGAAACAAATTTAAGAGGAAAATTTTTAACTGTGTCTGTGACAGTCTTATCAGAAGTATGAAACTTAATGCTTTTGAGAAAAAGACACCTGTAAGAAAAAAATAAATGCTCAATTAAGTTGCATACCTTGGCATCCCAGTCTTTATTAAGATAATATATACATGTCACACATCTTCCATCTCCATTTCGATTATCAACATGACGTACATAACCCGTTCCATTGCCCGGATAACAAGCAACCATGGCCTGTAATAATGATAATAATGATTATTAAAGTCCATGTATAAATAAAAAGAGAGAACAGCTAATAAATCAGATCTCTGATTTTTGGCTACTGATTTACACTTAGATTCTTCTAATAAAAATAATATTTTGTAGATAAGATAAGGCTATTCTACATTAACATTTATAGGGAACACAAGATAGGTTGATGAACAAGGACTGGTGAATTCTGCTTCACAGTGATAACTCCAAAGATCAGAAAAATTTCTTGGTCCTACTTTGACAATCTTTATAAATACAGATAATCAAGATCAAGTACGTTTTTGTCCTGCTCCATGGGAGATTTCAATCTTCCTTGAGCTCACCTCAGAACACCTACTTTACCATCTGATAGGTGAACCAACCCAGTCAACACCCCATCTGACACTGTCTCTGAATGGTACCAATTTTTTTTTTTTTTGAGACAGGGTCTGGCTCTGTTGCTCAGGTTCGAGTGCAGTGATGCAATCATGGCTCACTGCGGCCTCAACCTCCTGGGCTCAGGTGATTCTCCCACCTCAGCCTCCTAAGTAGCTAGGACTATAAGCACGTGTCACCAGGCTGGTTAATTTTTGTATTTTTTGTAGATATGGTGTCTTACTATGTTGTAATAGGGATAATTTAGGAGGTCAACTAAACTCCAAACATTAACTCATTTAGTGTCAGTGATTTTTTTTTAAAAAAAGGACTAAACAAATTAGCTTATGTTTACCCTCTTTCAATCAGAAAGAAAATTATTTGCTCAGATTATAACAAGATATGGTTCAGAAGACTGTTGGATGTTAAGCTTAAAGGTAGAAAAGAGGCCCAAAATAAAAAGCACAAAATAACTTCCATATTCTAGGTGTACATGATAATTAACTGAAATTGGTAATGGTATTTTTTAAAAAATTCTCAGGAATTATGAAGAAAACAAACAAAGACGTTCAAGGTTATGAGCTATTCTTGTTTTTGTTTGTTTTTTTACAGAGTCTTGCTCTGTTGACCAGGCTAGAGTGCAGTGGCACGATCTCAGCTCACTGCCTCCACCTTCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTGCCAGGCCCGGCTAATTTTTGTATTTTTAGTAGATACAGGGTTTCACCATGTTGGCCAAGCTGGTCTTAAACTCCTGACCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCTTGAGCCACCACGCCACCCGGTTTGTTATGAGCTATTCTTGAAGTCCTTTATTTCTTCATATAATAAAGTCAATGAATTAGTATAAAGTTATCAAACAGTAACCGAATTGTTCTACTATCATATTAAAAGAAAAATGCTAATTTTTAAAACTCACTTCCCATCCCTAAGAAACTAAGAGGCATCTTAAACCTAAATCCTTATTTAAAAATCCTGTTTCCCTAGACACTCTGAATTCACTGCTCTTTATAAGCAGCAGAATTTTTGGAGAACATTATATATGTCTCTGTTTTTCCTGATTCCAGACAGACTTAACAAGTTCCTTCTTTCAGCACTGGAGGTTGGTAACAACCAGGAGTGTGGCATGGGCTTAGTGGGTTTAAGTGCTCAATAAATGATGAGCCCAAATGATTTTCTTGTCACTAGCTACCCAGGAAAGAAGTTTACCTTGAATAGTAACTGTAAGAGGGTACTAATTTAACAATGCAATTACTCCATTTGTGGTTAACTGAAGTAATTATGATGAATTACACAATATATTGTTATTCATGGGAAAGAAGGGGGAAACCTGAACTCTACATCTCAAAAAAGTTAATTTGGGCCTTTCCAACTATCTGGTAACTTCAGCATCTCTTGTGTAAAGAAGGAAGGGGAAAATATTTGTCAGTCACTCACCCCATCACATCCCATATATCCATTTAACAAATACCTCTTGAACATCGACTATGTATATGAAAGGCACTGGGGCTAAAACG
Task1_train_2881
Gene COA6 (cytochrome c oxidase assembly factor 6) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
CTCTTGCTAGTCTTAACGATTAGTGAGAAAGTCCTGTTAAAATTACCCAATATGACCAGGCATTTTTTTTCTTTGTAATTCTGTCACTTCACTTTGTTTCATATGTATTTTTCATTAGGTACTTATAAATTTTAAATTTAAAACACATTTCCTTTTTAGACTCAGAAGTCATCTAAGACTCTTTCCTTTCATTCCTTTTATATCCCATCAGTCATATTTAAAAGATATCTATATGTAAACTGACGTCAATAGACATGATGTAAAAGAAGGGGGTGGCTCTGGTAAAGCTAAAGTAACTCCACTATGAGAGTGCATTAACTATGGGGGAAATACTTTCTATATTGCAGAACACATATTTGGTGGTACGTAGCCTCACATCGCCACCCGGAAAAGTCTGCATATATTGAATTTGGAATGGATCAAACTGCACTGAGTGCAAAATTGTAAATTGCATCTTATATAAATGTTTTAGAACTAGATGATGGAGCAGATGGGATCTATTAAGAGAACGGGGTGCCAGATGACTGACCATAAACATGCTTTTTAATAAAGACTCTGCTGAGAGATTAACTCATATATTTTCTAAAATTTTTATTTCTTGTTCATTTTGTTTCTAAGATATTCACTCACATATTAAAAATAACAACGTCTCAAAACATTTGAAGCAACTCTCTTCATCCCTTTTAAAAATACCTTGCTGTTTCGGGGGTTAAAAAAAGCCACAAGGGAGATTAAAACAATACAAATATTTATTTTCCCAACTCCCCTGCCATGGGTTCTGGGACGTCACCGCCTCTTTCTGGGGCCCGTTTCATCCTTTTCTTTTAATCCAAGAAGCGATGGTGTTGTGCGCCTGTAGTCCCAGCTACCTGGGAGGCAGGCTGAGGTGGGAGGATCTTTTGGGTCCAGGATTTTGAGGCTGCAGTAAGCCGTGTTCTCACCACTGCACTCGAGACTGGGCGGAAGAGCGAGACACTGTATCAAAAACAAAACAAAACAAAACGAGAAGGCATCGCGGCTCTGTAACACTCCGTCCAGCTCTCGCACTCTCAGATGCAAACTTCCACACAAACTCCTCGGCTCGCCTTGTCCCGCGGGACTAGCATATCAAGCCTTCCGGGACACACCGTGCGATGATATATACGTATATACCCCTCTTGCCCTTGAAGGCCGGAAGTCGGTCTTACAGATAAAAGCGAAACAGGAAGTCCCGCCCCTCTATGGAAAGTAAATGGTAGCTCGGAAGGGTCAAAAGAGTCCGCGGTTTCGCCGCGTGAGTTGCTTTTTGCGGCTGGGGAGGTCTACGCTTCTAGAGCTTGAGCCAGCGGGGCGACCCTGCAGTGGCAGGACTCGGCACCGCGCCCTCCACCGCCGGTTGGTGGCCTGCGTGACAGTTTCCTCCCGTCGACATCGAAAGGAAGCCGGACGTGGGCGGGCAGAGAGGTCGGCTTGCTGATGGGTCCGGGTGGGGCGCGCGTGGACTATGGGCCCGGGAGGTCCCTTACTGTCCCCGAGCCGCGGGTTCCTCTTGTGCAAAACGGGGTGGCACTCCAATCGCCTGCTTGGTGATTGTGGCCCCCACACACCTGTTTCTACAGCGCTTAGGTTCGAACAGTAACCCTGTAAACTAGGCACTGCTGTCCCCGCTTTACTGGTGGGAAACGGGCTCGGAGAGAATAAATGAGCTGCCCTAAGCGACTGGGACAGAACCACAGTTCTCAGCCGGGCTTTCTGAGCCCACGCTGCCGCCCCAGCAGGGATCAAATCACACAGTGTGAGATAAGCCTCAAGAGCGGGTGGCCTTATGCTGCCACTGAGAACTGATTGGGTTCAGTTGCCTCATCAAAATCCCTAAGCATGGTTTTGTTTTGTTTTTGTTTTTTTTTTTTTTTTTAGTTTTAAAGGAAGAGGAGATTGACGGTTTTCCTCTTTCCTTATCTTCTCTTCAGATTACAAAGTTCATTGTTAATCTCAAATATTATTTTGGCCAACAGCTTCATCGCAGTAGGAATGGCAGCCCCATCTATGAAGGAAAGACAGGTCTGCTGGGGGGCCCGGGATGAGTACTGGAAGTGTTTAGATGAGAACTTAGAGGATGCTTCTCAATGCAAGAAGTTAAGAAGCTCTTTCGAATCAAGTTGTCCCCAACAGTGGGTAAGTCACACTTTGATGTGTTTCTCTTCCCTGTTAAGATACATCGAGCTTATACTGTGAGTGGTAGGCTGACATGAAGCGCTCTCTGAGGCATGTCAATTAACAGTTTCTTTGAGGCGCAGAGAAAACCTTGCCTGGTAATTCAGCCTTATTTGACGCACTTACATCAGCTAGATCTTTGGAGAATGTCAACTGACACATTAAAGAGCATCGAAAAACACAACAAACATATGAACAGTAACCAAAAAATTCCAGTTCATTTCACTGGTAGACTTTTCCAGGATCTTCTGAAGGGGTAGTATTTAATCTTGGGCAGGAGTTGGCAAAATTATTGACCTAGAGCTACTATCAGAAATAAAGCATTCCCAGTTGCTCACCCAAAAATCCTGTAAGTCATCATATACCCAAAATATAAAGAAAGGAGTTTGGTAAGCAGAAGAAAGAAAAGGTTCATATGGTGGATTCTGTCTCCCTGACAGGCATTCAAGCGCTGTATCCCCTGTCCTTAGTATAAGGGGGGATTGGAAAGAGGACTATTACTGAGGTTAGTAAGTGGCCATGTGTGCTAAGTGCTTGACATTTTCATCTTCACCAGTACCTGTTAAGATAGGTGTTGTTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAATAGCTGGGCATGGTGGCACATGCCTCTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGACCTGGGAGGTGGAGGTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGGCCACAGAGCGAGACGTTGTTATTCTCTATCTCCAGAGGAGGCAGCTGAAGCTCAGAGCATTGAAGTAACTCGCTTGTTATTACTCAGCAAGTGGCAAAACTGTAATTTTAAGGCAGGCCTAACTGGCTGGTGTGGGATTTGAACTTGGATTTGCCTGTGCTTTTTCACTGTCTTATGCTGCTGCAAAATATACCATGTAGTTGGAAAACAGATACTTTTAGAGTTGAAGTGGTTTTAGGGGTTTTGCCCTCTCATACCTCAAACCTTTAAAAGGCTCTGAAGGAGGCTACAAGAAGGCTGTGATGCAGGGAGGGGTCGTATTGGTGGCTGAGCTGGGGATGAACACAGTGAACAGAAATTACTTTATTTTTCTTTCTTTAATTTTTAGAGACAGGTTCTCAATCTGTCACCCTGGCTTGAGTGTAGTGGCGTGATCATAGCTCACTGCAGCCTTGACCTCCTGGCCTCAAGCAATCTTCCCGCCTAAACCTCCTGAGAAGCTGGCACTATGGGCATTTGCCACCATGCCTGGCTAATTTTTAAAATTATTTTGTAAAGACAGGATCTCACTATGTTGCCCAGGCTGGGCTCGAACTCCTGGGCTCAAGTGATCTTCCCACCTCGACCTCCCAAAGCACTGGGATTAACAGGCGTGAGTCACCACGTCTGGCCAGGCATTGCTTTAGATGAACTCTTCATCTGTAAAACCAGCCTGTTACAACCTATCTCGTGGGATTGTTATGACAACAAAATGCATAACTTGACATGTAAACTGAAAACTGATCAATGTGGGACTCTATGATTGAATTAGATAATGACTCCAGAAGAAAATATTATACATCTGTAGTTTTCCCATTAGACAGATGCATTGAGAGGAACTCCAGGTTTAAGGAGTTCCCCTTCGATCCCACTTTTATCCTCTCTCTCCTCCTGCAACCCACTGCTTTTTCTCCAGCCTGATGGCTCCCACTCCCACACTTCCGGGGCAGCTTCCAGTCTGTGTGCCAGAAAGGGTTTTTACAACCAGCCATTTGGTTCTTGATCGTA
CTCTTGCTAGTCTTAACGATTAGTGAGAAAGTCCTGTTAAAATTACCCAATATGACCAGGCATTTTTTTTCTTTGTAATTCTGTCACTTCACTTTGTTTCATATGTATTTTTCATTAGGTACTTATAAATTTTAAATTTAAAACACATTTCCTTTTTAGACTCAGAAGTCATCTAAGACTCTTTCCTTTCATTCCTTTTATATCCCATCAGTCATATTTAAAAGATATCTATATGTAAACTGACGTCAATAGACATGATGTAAAAGAAGGGGGTGGCTCTGGTAAAGCTAAAGTAACTCCACTATGAGAGTGCATTAACTATGGGGGAAATACTTTCTATATTGCAGAACACATATTTGGTGGTACGTAGCCTCACATCGCCACCCGGAAAAGTCTGCATATATTGAATTTGGAATGGATCAAACTGCACTGAGTGCAAAATTGTAAATTGCATCTTATATAAATGTTTTAGAACTAGATGATGGAGCAGATGGGATCTATTAAGAGAACGGGGTGCCAGATGACTGACCATAAACATGCTTTTTAATAAAGACTCTGCTGAGAGATTAACTCATATATTTTCTAAAATTTTTATTTCTTGTTCATTTTGTTTCTAAGATATTCACTCACATATTAAAAATAACAACGTCTCAAAACATTTGAAGCAACTCTCTTCATCCCTTTTAAAAATACCTTGCTGTTTCGGGGGTTAAAAAAAGCCACAAGGGAGATTAAAACAATACAAATATTTATTTTCCCAACTCCCCTGCCATGGGTTCTGGGACGTCACCGCCTCTTTCTGGGGCCCGTTTCATCCTTTTCTTTTAATCCAAGAAGCGATGGTGTTGTGCGCCTGTAGTCCCAGCTACCTGGGAGGCAGGCTGAGGTGGGAGGATCTTTTGGGTCCAGGATTTTGAGGCTGCAGTAAGCCGTGTTCTCACCACTGCACTCGAGACTGGGCGGAAGAGCGAGACACTGTATCAAAAACAAAACAAAACAAAACGAGAAGGCATCGCGGCTCTGTAACACTCCGTCCAGCTCTCGCACTCTCAGATGCAAACTTCCACACAAACTCCTCGGCTCGCCTTGTCCCGCGGGACTAGCATATCAAGCCTTCCGGGACACACCGTGCGATGATATATACGTATATACCCCTCTTGCCCTTGAAGGCCGGAAGTCGGTCTTACAGATAAAAGCGAAACAGGAAGTCCCGCCCCTCTATGGAAAGTAAATGGTAGCTCGGAAGGGTCAAAAGAGTCCGCGGTTTCGCCGCGTGAGTTGCTTTTTGCGGCTGGGGAGGTCTACGCTTCTAGAGCTTGAGCCAGCGGGGCGACCCTGCAGTGGCAGGACTCGGCACCGCGCCCTCCACCGCCGGTTGGTGGCCTGCGTGACAGTTTCCTCCCGTCGACATCGAAAGGAAGCCGGACGTGGGCGGGCAGAGAGGTCGGCTTGCTGATGGGTCCGGGTGGGGCGCGCGTGGACTATGGGCCCGGGAGGTCCCTTACTGTCCCCGAGCCGCGGGTTCCTCTTGTGCAAAACGGGGTGGCACTCCAATCGCCTGCTTGGTGATTGTGGCCCCCACACACCTGTTTCTACAGCGCTTAGGTTCGAACAGTAACCCTGTAAACTAGGCACTGCTGTCCCCGCTTTACTGGTGGGAAACGGGCTCGGAGAGAATAAATGAGCTGCCCTAAGCGACTGGGACAGAACCACAGTTCTCAGCCGGGCTTTCTGAGCCCACGCTGCCGCCCCAGCAGGGATCAAATCACACAGTGTGAGATAAGCCTCAAGAGCGGGTGGCCTTATGCTGCCACTGAGAACTGATTGGGTTCAGTTGCCTCATCAAAATCCCTAAGCATGGTTTTGTTTTGTTTTTGTTTTTTTTTTTTTTTTTAGTTTTAAAGGAAGAGGAGATTGACGGTTTTCCTCTTTCCTTATCTTCTCTTCAGATTACAAAGTTCATTGTTAATCTCAAATATTATTTTGGCCAACAGCTTCATCGCAGTAGGAATGGCAGCCCCATCTATGAAGGAAAGACAGGTCTGCTGCGGGGCCCGGGATGAGTACTGGAAGTGTTTAGATGAGAACTTAGAGGATGCTTCTCAATGCAAGAAGTTAAGAAGCTCTTTCGAATCAAGTTGTCCCCAACAGTGGGTAAGTCACACTTTGATGTGTTTCTCTTCCCTGTTAAGATACATCGAGCTTATACTGTGAGTGGTAGGCTGACATGAAGCGCTCTCTGAGGCATGTCAATTAACAGTTTCTTTGAGGCGCAGAGAAAACCTTGCCTGGTAATTCAGCCTTATTTGACGCACTTACATCAGCTAGATCTTTGGAGAATGTCAACTGACACATTAAAGAGCATCGAAAAACACAACAAACATATGAACAGTAACCAAAAAATTCCAGTTCATTTCACTGGTAGACTTTTCCAGGATCTTCTGAAGGGGTAGTATTTAATCTTGGGCAGGAGTTGGCAAAATTATTGACCTAGAGCTACTATCAGAAATAAAGCATTCCCAGTTGCTCACCCAAAAATCCTGTAAGTCATCATATACCCAAAATATAAAGAAAGGAGTTTGGTAAGCAGAAGAAAGAAAAGGTTCATATGGTGGATTCTGTCTCCCTGACAGGCATTCAAGCGCTGTATCCCCTGTCCTTAGTATAAGGGGGGATTGGAAAGAGGACTATTACTGAGGTTAGTAAGTGGCCATGTGTGCTAAGTGCTTGACATTTTCATCTTCACCAGTACCTGTTAAGATAGGTGTTGTTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAATAGCTGGGCATGGTGGCACATGCCTCTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGACCTGGGAGGTGGAGGTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGGCCACAGAGCGAGACGTTGTTATTCTCTATCTCCAGAGGAGGCAGCTGAAGCTCAGAGCATTGAAGTAACTCGCTTGTTATTACTCAGCAAGTGGCAAAACTGTAATTTTAAGGCAGGCCTAACTGGCTGGTGTGGGATTTGAACTTGGATTTGCCTGTGCTTTTTCACTGTCTTATGCTGCTGCAAAATATACCATGTAGTTGGAAAACAGATACTTTTAGAGTTGAAGTGGTTTTAGGGGTTTTGCCCTCTCATACCTCAAACCTTTAAAAGGCTCTGAAGGAGGCTACAAGAAGGCTGTGATGCAGGGAGGGGTCGTATTGGTGGCTGAGCTGGGGATGAACACAGTGAACAGAAATTACTTTATTTTTCTTTCTTTAATTTTTAGAGACAGGTTCTCAATCTGTCACCCTGGCTTGAGTGTAGTGGCGTGATCATAGCTCACTGCAGCCTTGACCTCCTGGCCTCAAGCAATCTTCCCGCCTAAACCTCCTGAGAAGCTGGCACTATGGGCATTTGCCACCATGCCTGGCTAATTTTTAAAATTATTTTGTAAAGACAGGATCTCACTATGTTGCCCAGGCTGGGCTCGAACTCCTGGGCTCAAGTGATCTTCCCACCTCGACCTCCCAAAGCACTGGGATTAACAGGCGTGAGTCACCACGTCTGGCCAGGCATTGCTTTAGATGAACTCTTCATCTGTAAAACCAGCCTGTTACAACCTATCTCGTGGGATTGTTATGACAACAAAATGCATAACTTGACATGTAAACTGAAAACTGATCAATGTGGGACTCTATGATTGAATTAGATAATGACTCCAGAAGAAAATATTATACATCTGTAGTTTTCCCATTAGACAGATGCATTGAGAGGAACTCCAGGTTTAAGGAGTTCCCCTTCGATCCCACTTTTATCCTCTCTCTCCTCCTGCAACCCACTGCTTTTTCTCCAGCCTGATGGCTCCCACTCCCACACTTCCGGGGCAGCTTCCAGTCTGTGTGCCAGAAAGGGTTTTTACAACCAGCCATTTGGTTCTTGATCGTA
Task1_train_2882
This variant impacts the gene COA6 (cytochrome c oxidase assembly factor 6) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
TTAGTGAGAAAGTCCTGTTAAAATTACCCAATATGACCAGGCATTTTTTTTCTTTGTAATTCTGTCACTTCACTTTGTTTCATATGTATTTTTCATTAGGTACTTATAAATTTTAAATTTAAAACACATTTCCTTTTTAGACTCAGAAGTCATCTAAGACTCTTTCCTTTCATTCCTTTTATATCCCATCAGTCATATTTAAAAGATATCTATATGTAAACTGACGTCAATAGACATGATGTAAAAGAAGGGGGTGGCTCTGGTAAAGCTAAAGTAACTCCACTATGAGAGTGCATTAACTATGGGGGAAATACTTTCTATATTGCAGAACACATATTTGGTGGTACGTAGCCTCACATCGCCACCCGGAAAAGTCTGCATATATTGAATTTGGAATGGATCAAACTGCACTGAGTGCAAAATTGTAAATTGCATCTTATATAAATGTTTTAGAACTAGATGATGGAGCAGATGGGATCTATTAAGAGAACGGGGTGCCAGATGACTGACCATAAACATGCTTTTTAATAAAGACTCTGCTGAGAGATTAACTCATATATTTTCTAAAATTTTTATTTCTTGTTCATTTTGTTTCTAAGATATTCACTCACATATTAAAAATAACAACGTCTCAAAACATTTGAAGCAACTCTCTTCATCCCTTTTAAAAATACCTTGCTGTTTCGGGGGTTAAAAAAAGCCACAAGGGAGATTAAAACAATACAAATATTTATTTTCCCAACTCCCCTGCCATGGGTTCTGGGACGTCACCGCCTCTTTCTGGGGCCCGTTTCATCCTTTTCTTTTAATCCAAGAAGCGATGGTGTTGTGCGCCTGTAGTCCCAGCTACCTGGGAGGCAGGCTGAGGTGGGAGGATCTTTTGGGTCCAGGATTTTGAGGCTGCAGTAAGCCGTGTTCTCACCACTGCACTCGAGACTGGGCGGAAGAGCGAGACACTGTATCAAAAACAAAACAAAACAAAACGAGAAGGCATCGCGGCTCTGTAACACTCCGTCCAGCTCTCGCACTCTCAGATGCAAACTTCCACACAAACTCCTCGGCTCGCCTTGTCCCGCGGGACTAGCATATCAAGCCTTCCGGGACACACCGTGCGATGATATATACGTATATACCCCTCTTGCCCTTGAAGGCCGGAAGTCGGTCTTACAGATAAAAGCGAAACAGGAAGTCCCGCCCCTCTATGGAAAGTAAATGGTAGCTCGGAAGGGTCAAAAGAGTCCGCGGTTTCGCCGCGTGAGTTGCTTTTTGCGGCTGGGGAGGTCTACGCTTCTAGAGCTTGAGCCAGCGGGGCGACCCTGCAGTGGCAGGACTCGGCACCGCGCCCTCCACCGCCGGTTGGTGGCCTGCGTGACAGTTTCCTCCCGTCGACATCGAAAGGAAGCCGGACGTGGGCGGGCAGAGAGGTCGGCTTGCTGATGGGTCCGGGTGGGGCGCGCGTGGACTATGGGCCCGGGAGGTCCCTTACTGTCCCCGAGCCGCGGGTTCCTCTTGTGCAAAACGGGGTGGCACTCCAATCGCCTGCTTGGTGATTGTGGCCCCCACACACCTGTTTCTACAGCGCTTAGGTTCGAACAGTAACCCTGTAAACTAGGCACTGCTGTCCCCGCTTTACTGGTGGGAAACGGGCTCGGAGAGAATAAATGAGCTGCCCTAAGCGACTGGGACAGAACCACAGTTCTCAGCCGGGCTTTCTGAGCCCACGCTGCCGCCCCAGCAGGGATCAAATCACACAGTGTGAGATAAGCCTCAAGAGCGGGTGGCCTTATGCTGCCACTGAGAACTGATTGGGTTCAGTTGCCTCATCAAAATCCCTAAGCATGGTTTTGTTTTGTTTTTGTTTTTTTTTTTTTTTTTAGTTTTAAAGGAAGAGGAGATTGACGGTTTTCCTCTTTCCTTATCTTCTCTTCAGATTACAAAGTTCATTGTTAATCTCAAATATTATTTTGGCCAACAGCTTCATCGCAGTAGGAATGGCAGCCCCATCTATGAAGGAAAGACAGGTCTGCTGGGGGGCCCGGGATGAGTACTGGAAGTGTTTAGATGAGAACTTAGAGGATGCTTCTCAATGCAAGAAGTTAAGAAGCTCTTTCGAATCAAGTTGTCCCCAACAGTGGGTAAGTCACACTTTGATGTGTTTCTCTTCCCTGTTAAGATACATCGAGCTTATACTGTGAGTGGTAGGCTGACATGAAGCGCTCTCTGAGGCATGTCAATTAACAGTTTCTTTGAGGCGCAGAGAAAACCTTGCCTGGTAATTCAGCCTTATTTGACGCACTTACATCAGCTAGATCTTTGGAGAATGTCAACTGACACATTAAAGAGCATCGAAAAACACAACAAACATATGAACAGTAACCAAAAAATTCCAGTTCATTTCACTGGTAGACTTTTCCAGGATCTTCTGAAGGGGTAGTATTTAATCTTGGGCAGGAGTTGGCAAAATTATTGACCTAGAGCTACTATCAGAAATAAAGCATTCCCAGTTGCTCACCCAAAAATCCTGTAAGTCATCATATACCCAAAATATAAAGAAAGGAGTTTGGTAAGCAGAAGAAAGAAAAGGTTCATATGGTGGATTCTGTCTCCCTGACAGGCATTCAAGCGCTGTATCCCCTGTCCTTAGTATAAGGGGGGATTGGAAAGAGGACTATTACTGAGGTTAGTAAGTGGCCATGTGTGCTAAGTGCTTGACATTTTCATCTTCACCAGTACCTGTTAAGATAGGTGTTGTTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAATAGCTGGGCATGGTGGCACATGCCTCTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGACCTGGGAGGTGGAGGTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGGCCACAGAGCGAGACGTTGTTATTCTCTATCTCCAGAGGAGGCAGCTGAAGCTCAGAGCATTGAAGTAACTCGCTTGTTATTACTCAGCAAGTGGCAAAACTGTAATTTTAAGGCAGGCCTAACTGGCTGGTGTGGGATTTGAACTTGGATTTGCCTGTGCTTTTTCACTGTCTTATGCTGCTGCAAAATATACCATGTAGTTGGAAAACAGATACTTTTAGAGTTGAAGTGGTTTTAGGGGTTTTGCCCTCTCATACCTCAAACCTTTAAAAGGCTCTGAAGGAGGCTACAAGAAGGCTGTGATGCAGGGAGGGGTCGTATTGGTGGCTGAGCTGGGGATGAACACAGTGAACAGAAATTACTTTATTTTTCTTTCTTTAATTTTTAGAGACAGGTTCTCAATCTGTCACCCTGGCTTGAGTGTAGTGGCGTGATCATAGCTCACTGCAGCCTTGACCTCCTGGCCTCAAGCAATCTTCCCGCCTAAACCTCCTGAGAAGCTGGCACTATGGGCATTTGCCACCATGCCTGGCTAATTTTTAAAATTATTTTGTAAAGACAGGATCTCACTATGTTGCCCAGGCTGGGCTCGAACTCCTGGGCTCAAGTGATCTTCCCACCTCGACCTCCCAAAGCACTGGGATTAACAGGCGTGAGTCACCACGTCTGGCCAGGCATTGCTTTAGATGAACTCTTCATCTGTAAAACCAGCCTGTTACAACCTATCTCGTGGGATTGTTATGACAACAAAATGCATAACTTGACATGTAAACTGAAAACTGATCAATGTGGGACTCTATGATTGAATTAGATAATGACTCCAGAAGAAAATATTATACATCTGTAGTTTTCCCATTAGACAGATGCATTGAGAGGAACTCCAGGTTTAAGGAGTTCCCCTTCGATCCCACTTTTATCCTCTCTCTCCTCCTGCAACCCACTGCTTTTTCTCCAGCCTGATGGCTCCCACTCCCACACTTCCGGGGCAGCTTCCAGTCTGTGTGCCAGAAAGGGTTTTTACAACCAGCCATTTGGTTCTTGATCGTATGTACATCTCTCTCACTCA
TTAGTGAGAAAGTCCTGTTAAAATTACCCAATATGACCAGGCATTTTTTTTCTTTGTAATTCTGTCACTTCACTTTGTTTCATATGTATTTTTCATTAGGTACTTATAAATTTTAAATTTAAAACACATTTCCTTTTTAGACTCAGAAGTCATCTAAGACTCTTTCCTTTCATTCCTTTTATATCCCATCAGTCATATTTAAAAGATATCTATATGTAAACTGACGTCAATAGACATGATGTAAAAGAAGGGGGTGGCTCTGGTAAAGCTAAAGTAACTCCACTATGAGAGTGCATTAACTATGGGGGAAATACTTTCTATATTGCAGAACACATATTTGGTGGTACGTAGCCTCACATCGCCACCCGGAAAAGTCTGCATATATTGAATTTGGAATGGATCAAACTGCACTGAGTGCAAAATTGTAAATTGCATCTTATATAAATGTTTTAGAACTAGATGATGGAGCAGATGGGATCTATTAAGAGAACGGGGTGCCAGATGACTGACCATAAACATGCTTTTTAATAAAGACTCTGCTGAGAGATTAACTCATATATTTTCTAAAATTTTTATTTCTTGTTCATTTTGTTTCTAAGATATTCACTCACATATTAAAAATAACAACGTCTCAAAACATTTGAAGCAACTCTCTTCATCCCTTTTAAAAATACCTTGCTGTTTCGGGGGTTAAAAAAAGCCACAAGGGAGATTAAAACAATACAAATATTTATTTTCCCAACTCCCCTGCCATGGGTTCTGGGACGTCACCGCCTCTTTCTGGGGCCCGTTTCATCCTTTTCTTTTAATCCAAGAAGCGATGGTGTTGTGCGCCTGTAGTCCCAGCTACCTGGGAGGCAGGCTGAGGTGGGAGGATCTTTTGGGTCCAGGATTTTGAGGCTGCAGTAAGCCGTGTTCTCACCACTGCACTCGAGACTGGGCGGAAGAGCGAGACACTGTATCAAAAACAAAACAAAACAAAACGAGAAGGCATCGCGGCTCTGTAACACTCCGTCCAGCTCTCGCACTCTCAGATGCAAACTTCCACACAAACTCCTCGGCTCGCCTTGTCCCGCGGGACTAGCATATCAAGCCTTCCGGGACACACCGTGCGATGATATATACGTATATACCCCTCTTGCCCTTGAAGGCCGGAAGTCGGTCTTACAGATAAAAGCGAAACAGGAAGTCCCGCCCCTCTATGGAAAGTAAATGGTAGCTCGGAAGGGTCAAAAGAGTCCGCGGTTTCGCCGCGTGAGTTGCTTTTTGCGGCTGGGGAGGTCTACGCTTCTAGAGCTTGAGCCAGCGGGGCGACCCTGCAGTGGCAGGACTCGGCACCGCGCCCTCCACCGCCGGTTGGTGGCCTGCGTGACAGTTTCCTCCCGTCGACATCGAAAGGAAGCCGGACGTGGGCGGGCAGAGAGGTCGGCTTGCTGATGGGTCCGGGTGGGGCGCGCGTGGACTATGGGCCCGGGAGGTCCCTTACTGTCCCCGAGCCGCGGGTTCCTCTTGTGCAAAACGGGGTGGCACTCCAATCGCCTGCTTGGTGATTGTGGCCCCCACACACCTGTTTCTACAGCGCTTAGGTTCGAACAGTAACCCTGTAAACTAGGCACTGCTGTCCCCGCTTTACTGGTGGGAAACGGGCTCGGAGAGAATAAATGAGCTGCCCTAAGCGACTGGGACAGAACCACAGTTCTCAGCCGGGCTTTCTGAGCCCACGCTGCCGCCCCAGCAGGGATCAAATCACACAGTGTGAGATAAGCCTCAAGAGCGGGTGGCCTTATGCTGCCACTGAGAACTGATTGGGTTCAGTTGCCTCATCAAAATCCCTAAGCATGGTTTTGTTTTGTTTTTGTTTTTTTTTTTTTTTTTAGTTTTAAAGGAAGAGGAGATTGACGGTTTTCCTCTTTCCTTATCTTCTCTTCAGATTACAAAGTTCATTGTTAATCTCAAATATTATTTTGGCCAACAGCTTCATCGCAGTAGGAATGGCAGCCCCATCTATGAAGGAAAGACAGGTCTGCTGGGGGGCCCGGGATGAGTACCGGAAGTGTTTAGATGAGAACTTAGAGGATGCTTCTCAATGCAAGAAGTTAAGAAGCTCTTTCGAATCAAGTTGTCCCCAACAGTGGGTAAGTCACACTTTGATGTGTTTCTCTTCCCTGTTAAGATACATCGAGCTTATACTGTGAGTGGTAGGCTGACATGAAGCGCTCTCTGAGGCATGTCAATTAACAGTTTCTTTGAGGCGCAGAGAAAACCTTGCCTGGTAATTCAGCCTTATTTGACGCACTTACATCAGCTAGATCTTTGGAGAATGTCAACTGACACATTAAAGAGCATCGAAAAACACAACAAACATATGAACAGTAACCAAAAAATTCCAGTTCATTTCACTGGTAGACTTTTCCAGGATCTTCTGAAGGGGTAGTATTTAATCTTGGGCAGGAGTTGGCAAAATTATTGACCTAGAGCTACTATCAGAAATAAAGCATTCCCAGTTGCTCACCCAAAAATCCTGTAAGTCATCATATACCCAAAATATAAAGAAAGGAGTTTGGTAAGCAGAAGAAAGAAAAGGTTCATATGGTGGATTCTGTCTCCCTGACAGGCATTCAAGCGCTGTATCCCCTGTCCTTAGTATAAGGGGGGATTGGAAAGAGGACTATTACTGAGGTTAGTAAGTGGCCATGTGTGCTAAGTGCTTGACATTTTCATCTTCACCAGTACCTGTTAAGATAGGTGTTGTTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAATAGCTGGGCATGGTGGCACATGCCTCTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGACCTGGGAGGTGGAGGTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGGCCACAGAGCGAGACGTTGTTATTCTCTATCTCCAGAGGAGGCAGCTGAAGCTCAGAGCATTGAAGTAACTCGCTTGTTATTACTCAGCAAGTGGCAAAACTGTAATTTTAAGGCAGGCCTAACTGGCTGGTGTGGGATTTGAACTTGGATTTGCCTGTGCTTTTTCACTGTCTTATGCTGCTGCAAAATATACCATGTAGTTGGAAAACAGATACTTTTAGAGTTGAAGTGGTTTTAGGGGTTTTGCCCTCTCATACCTCAAACCTTTAAAAGGCTCTGAAGGAGGCTACAAGAAGGCTGTGATGCAGGGAGGGGTCGTATTGGTGGCTGAGCTGGGGATGAACACAGTGAACAGAAATTACTTTATTTTTCTTTCTTTAATTTTTAGAGACAGGTTCTCAATCTGTCACCCTGGCTTGAGTGTAGTGGCGTGATCATAGCTCACTGCAGCCTTGACCTCCTGGCCTCAAGCAATCTTCCCGCCTAAACCTCCTGAGAAGCTGGCACTATGGGCATTTGCCACCATGCCTGGCTAATTTTTAAAATTATTTTGTAAAGACAGGATCTCACTATGTTGCCCAGGCTGGGCTCGAACTCCTGGGCTCAAGTGATCTTCCCACCTCGACCTCCCAAAGCACTGGGATTAACAGGCGTGAGTCACCACGTCTGGCCAGGCATTGCTTTAGATGAACTCTTCATCTGTAAAACCAGCCTGTTACAACCTATCTCGTGGGATTGTTATGACAACAAAATGCATAACTTGACATGTAAACTGAAAACTGATCAATGTGGGACTCTATGATTGAATTAGATAATGACTCCAGAAGAAAATATTATACATCTGTAGTTTTCCCATTAGACAGATGCATTGAGAGGAACTCCAGGTTTAAGGAGTTCCCCTTCGATCCCACTTTTATCCTCTCTCTCCTCCTGCAACCCACTGCTTTTTCTCCAGCCTGATGGCTCCCACTCCCACACTTCCGGGGCAGCTTCCAGTCTGTGTGCCAGAAAGGGTTTTTACAACCAGCCATTTGGTTCTTGATCGTATGTACATCTCTCTCACTCA
Task1_train_2883
Here’s a variant in IRF2BP2 (interferon regulatory factor 2 binding protein 2) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Immunodeficiency, common variable, 14
GACCATAAGAGCTGAATTCTTTACAAATGTCTTTATGGGCATGTAAAATTGACTCTGCATTTCTGCATGTGTGCATTCACATAAGAGAGACCAGTCTGCACTGAGTCATATATACTCCAACTTGAAAAAGTAAGTGTAACAACTGGTTAATCATGCAAGTCTGTTTGTAATATAACAATGACTGGTAAAACATGAATTCTCGCACAGTAGTAATAGGTGCACTCATTAAAAACACTACGGAAAAACACTGTATTTGGTGCAGTATCTGATTTTCAAGTGTTAGTAACTTGACCATTAAAAAATAGTTTTGAACAATTTAAAAAGGAAAGACAAACATATAACTAAAAAAGAATCCAAAGTTGGTAAAAATCTGTATTTTCAAATGTAAATAGAAGCTAGGCTGTGAACCATACACATAAATTGTAGACCTTGAAGCCATAATTCAGCCTAATTATAAGGCCAAGTTACAAACACCTGAACGTAAGGATTTAAAATAGTGTTCCTGTCAATGTTAAATCATAACAGCACAAAAGAAAAACCAGTATCACTGTGAGACAACTATTTCTAATAATTGATGATTTATTGGTTTTAAAAAAATCATTTTACTGATGCAAAATAGTGATCAAAAGAAATTAGTTTACAAAAAGACTTCTAAAAATATTTTGAGAGGTGGGGCCTGTCTATTATATAAAACCCTTAATTTCTTTAATTTCCACTAGTTTATCATTTTTTTCCAGAACAGTATTATTCACTTGGTATTTCAAACACATGTTAAGAAGGAAATTACAGGTTTCCTCCACCCACATTTGGGCTGTCACTGATATGCCCAAGGGCAGTCCTGGCAGCACCACGCGGCTGTTACTGTCATTGTACCATACTGTATTCAGCACTCACTAGAAACAGGGTATAGGTGATAGTATCAACAGCAATAGCACTACAGGTAAATGATAAACAAAACAAAACAGAAACAAAACCAATCCCACAATCTCCAAGTTCACCTGGACTGTAACTTCTCTTGCAACTCTTTCAAAATAAAGGACAACAGCAACAACAAACAGACCTCTAGGGTGTTTAAAAAGATGAAGTGGCGCTGCAGAGCTGGGCTCTGCTCAAAGATGGCAGTGCCATCTTGTACACACCACCATCCATTATAACCGCCTTCCATCACTGGAATTGTATCTTATGTAACCAACTAGCATGCAGCATTGTAATCTTACAACTGATCACGTGGACAGTGAACAGCGGTCAACTTTGTCTTAAAAAAAAAAAAACAAAAAACCCCAAAAGACCACACAATCCTGAAAATTTCCCAGCAGCACTCTCAGTCATCAGTATCTCAGGAACTGAACTTTTGAGCAAAATAGAGATTCAAAATCCACTTTCCTACTCCTCTGAGGACAATGTTTCAGGGTAAACTGGTGGTATTTCCCAGTGGCATGCCCACTTGACAACATGCCCGTTCGATCATTTCCTTTCCTTCTCCACCACTTGGCCTCCGGCCTGAGAAAGGGGCCAGCAATAAGGAATGACAGACAGTAAGGCAATCTTACAATGTCAGAAAATGTATTTGGCTTTTTTTTTCTTTTTAAAATAAGTGCATACAAATACAGCTAGAAGCATTTCTGATTTGCCAAGTGCTCTAAAAAAGCAGCGCAAGTCACAGCCTACATAGAACGGTAACTGTCACCAGGATAATAAAGCACAAAGATATGCTAATAACGTTAACAAAAGAAAAAAATGTCTTTATAAGTACATACCTTTTGTCGTCAAAAAAAATATAGAAACACAATGTATTCAAAAAAAATCAAAATTATACAGCCATGTTTATGAAGTCTACATTTCCCTTGTCTTGGATATATATATATATGGAGATATATATACAATTCAAGCAGTTTTAATTAAGGGTAATCATTGGGTTTTTCTGAAACCGGAAAAGTCACGAGTCTCTCTCTTTTTTCACTTTCACATCTCCAGCAAGGATGGTTGCAATTTCCCCTTGCATAAAGGCCCAGGGGACATTGGAGCCCACAAGAGGGCATTTTTCCCCACTGGGACAATAGACCTCTCCACTAGCTCCCTGCTGTTTGATGCTTTGTCTGGAGCAAGGGAAGCAGAACTTGTGCGAAGGGACGGACGGGCACTGCACAAAATGGGTGTCCTCCAGCCGCTCGTGGCAGAGGGTGCAGCACAGCGGGGCACTGGTTGCCAGAGAGGAGTCCGGGAGGCTGGCAGGGTGCACTGGCTCCAGTCCTCCTGTGTTGCCTGCTCCCTGGCCCCCCACCTCTCTGGGGCCCAGCCTTCTTTGGTTCATAGAGGACGGAGAGGGCGGACTGTTGCTATTCCTCCTGGTAGTGGAGTGAACCTGGTTGGCATCTTTTGAGGCATGACTGCCCCCTGCATTGTCTGCTACTAAGATCAGGGCTGCCATGGGGGACTGGCCATTCTGGGCCGCTTCAGGCGGTGTGGTCCGGTTGGAATGAGGTGAGGCAGTGGGTGGTGGCGGAGACACAAAAGAGGATGTAGGAGTCATGGGGATCTTGAGCCCCTCTGTGGATGTGGACAGCCACGGCTGGGCCTCTCCGTTGATCTTAGGGGGCCCGACTTCACCTTCTGGTTCTGGAGAGGGCTTCCTTTTCCTTGCTGTTCTTGCAACTGGAAACACAAAGAAATAAAAGGAAAAAGGTAACATAAGTGGCGGTGCACTGAAAGAGATCATTCTCTTCCTAACCCGAAACAAAAGTCGTTACAGAATTCCTCCTCTCTAAAAGCACAGACAGAAAATACTCATATACGAGTTTCAGGTGCACATGCAACTTAAAACCTTCAGGCGTACGGGATTCTGAGGCAGCAGACTGATTTAAAATGGAGCCACTGAAAATGACACGCTTGTAACTGCCTGTTTGTACACATGCACAAAAGTACCCTCGTTTGCACTCAACATGTGACTGCTAATGTCCCCCAATAGGTTAAAAGGTGACTGGTGCCCTCATGCTCCCATCCAAGAATGTGCTGGGAAAGGAAAACCCCGTGTCAGAGCGTATCAGCCCAGTCTGACTCATCTCTGTTATGCTGCTTCAGCACATGAACACGTTGCCACCAAGCACTGGTTCCGCCTCAGGCAGATCAGGAAGTGGGGTGTTTGTTGTTTCTGGGCTGGGGTAAAATGGTGAATCCAAAGAACCACCCTTCCTCTGCTCTCCGTCCCCTTTTCTCCCCTAGACCCCCTCACTTCACAGCCGCCCCTACCTGCTTTAGACCCGTTGGCCCCGTTGGCCTCGAAACCCAACAACCTGCCTGCAGTCAGGGCCGGCTCCTTCTTAAACTTGCTCTCGAAGGGCCCCGAGTGGCCGTGCTGGTGCAGCGCCAGCAGCGTGTCGCGCACGGTCTTGGGCCTGTTGACCCAGTCCTGCTCTCCAGACCCGCGGCTCTTGCCCGCACCTTCCGCGCTCAGCTCGGCGGCCCCGGCCGCGGTGGACAGGCTGTCGGCCGGGCCCCGGTGCGCAGGCGGCGGCGGTTGTTTCTCCTTGGCTGCCGCCTCACGCTGCTCGTGCTCCACGGCAGCGCTGCTCGACACGGATGCCGGCCGCTTGTGGGCGCCCAGATCGGTGGGCTGCGCGGAGCCCAGGCTGGCGGCCGCGGTTCCGGACACCGCGGCTAAGGAGGCGGCAGCGCGGCCGCCGAGGCCGAGCGCGGTGGGCAGCGGCGTGGCCGAGCCGTTCATGAGCGGCACCAGGGTGGGCGGCACCGCGTGGCCGCGCCGCGGGTTCGGGCTCTGGCGATTCAGCTCGGGCGGCTCCTCTAGCTTGGAGAAGCCGTTGGGCACCAGGATGCCGTTCACGGGCGGCGGCTGCGGCGTCGGCGGCTGGGCCAGGCTCGCTGCCGGGCGGCTGCTGCCGAAGTCAGAGCCGAGGCGCGGGGGCCTCTCGGCCGCGGCCGCCAACGGGTAGCGCTCCAAGGCCTGCGGCGCGCGCGGGGCCGCCTCGGGGCCGCCGTGGCCAAGCTGCTGCTGCTGCTGCAAAAGGATGTCCTTGGCGGAGAGCGGCGGCGGCTTGGCGGCGGCCGAGGCCGCGGCGCCGGGTGGGGAGCGACCCTCCGG
GACCATAAGAGCTGAATTCTTTACAAATGTCTTTATGGGCATGTAAAATTGACTCTGCATTTCTGCATGTGTGCATTCACATAAGAGAGACCAGTCTGCACTGAGTCATATATACTCCAACTTGAAAAAGTAAGTGTAACAACTGGTTAATCATGCAAGTCTGTTTGTAATATAACAATGACTGGTAAAACATGAATTCTCGCACAGTAGTAATAGGTGCACTCATTAAAAACACTACGGAAAAACACTGTATTTGGTGCAGTATCTGATTTTCAAGTGTTAGTAACTTGACCATTAAAAAATAGTTTTGAACAATTTAAAAAGGAAAGACAAACATATAACTAAAAAAGAATCCAAAGTTGGTAAAAATCTGTATTTTCAAATGTAAATAGAAGCTAGGCTGTGAACCATACACATAAATTGTAGACCTTGAAGCCATAATTCAGCCTAATTATAAGGCCAAGTTACAAACACCTGAACGTAAGGATTTAAAATAGTGTTCCTGTCAATGTTAAATCATAACAGCACAAAAGAAAAACCAGTATCACTGTGAGACAACTATTTCTAATAATTGATGATTTATTGGTTTTAAAAAAATCATTTTACTGATGCAAAATAGTGATCAAAAGAAATTAGTTTACAAAAAGACTTCTAAAAATATTTTGAGAGGTGGGGCCTGTCTATTATATAAAACCCTTAATTTCTTTAATTTCCACTAGTTTATCATTTTTTTCCAGAACAGTATTATTCACTTGGTATTTCAAACACATGTTAAGAAGGAAATTACAGGTTTCCTCCACCCACATTTGGGCTGTCACTGATATGCCCAAGGGCAGTCCTGGCAGCACCACGCGGCTGTTACTGTCATTGTACCATACTGTATTCAGCACTCACTAGAAACAGGGTATAGGTGATAGTATCAACAGCAATAGCACTACAGGTAAATGATAAACAAAACAAAACAGAAACAAAACCAATCCCACAATCTCCAAGTTCACCTGGACTGTAACTTCTCTTGCAACTCTTTCAAAATAAAGGACAACAGCAACAACAAACAGACCTCTAGGGTGTTTAAAAAGATGAAGTGGCGCTGCAGAGCTGGGCTCTGCTCAAAGATGGCAGTGCCATCTTGTACACACCACCATCCATTATAACCGCCTTCCATCACTGGAATTGTATCTTATGTAACCAACTAGCATGCAGCATTGTAATCTTACAACTGATCACGTGGACAGTGAACAGCGGTCAACTTTGTCTTAAAAAAAAAAAAACAAAAAACCCCAAAAGACCACACAATCCTGAAAATTTCCCAGCAGCACTCTCAGTCATCAGTATCTCAGGAACTGAACTTTTGAGCAAAATAGAGATTCAAAATCCACTTTCCTACTCCTCTGAGGACAATGTTTCAGGGTAAACTGGTGGTATTTCCCAGTGGCATGCCCACTTGACAACATGCCCGTTCGATCATTTCCTTTCCTTCTCCACCACTTGGCCTCCGGCCTGAGAAAGGGGCCAGCAATAAGGAATGACAGACAGTAAGGCAATCTTACAATGTCAGAAAATGTATTTGGCTTTTTTTTTCTTTTTAAAATAAGTGCATACAAATACAGCTAGAAGCATTTCTGATTTGCCAAGTGCTCTAAAAAAGCAGCGCAAGTCACAGCCTACATAGAACGGTAACTGTCACCAGGATAATAAAGCACAAAGATATGCTAATAACGTTAACAAAAGAAAAAAATGTCTTTATAAGTACATACCTTTTGTCGTCAAAAAAAATATAGAAACACAATGTATTCAAAAAAAATCAAAATTATACAGCCATGTTTATGAAGTCTACATTTCCCTTGTCTTGGATATATATATATATGGAGATATATATACAATTCAAGCAGTTTTAATTAAGGGTAATCATTGGGTTTTTCTGAAACCGGAAAAGTCACGAGTCTCTCTCTTTTTTCACTTTCACATCTCCAGCAAGGATGGTTGCAATTTCCCCTTGCATAAAGGCCCAGGGGACATTGGAGCCCACAAGAGGGCATTTTTCCCCATTGGGACAATAGACCTCTCCACTAGCTCCCTGCTGTTTGATGCTTTGTCTGGAGCAAGGGAAGCAGAACTTGTGCGAAGGGACGGACGGGCACTGCACAAAATGGGTGTCCTCCAGCCGCTCGTGGCAGAGGGTGCAGCACAGCGGGGCACTGGTTGCCAGAGAGGAGTCCGGGAGGCTGGCAGGGTGCACTGGCTCCAGTCCTCCTGTGTTGCCTGCTCCCTGGCCCCCCACCTCTCTGGGGCCCAGCCTTCTTTGGTTCATAGAGGACGGAGAGGGCGGACTGTTGCTATTCCTCCTGGTAGTGGAGTGAACCTGGTTGGCATCTTTTGAGGCATGACTGCCCCCTGCATTGTCTGCTACTAAGATCAGGGCTGCCATGGGGGACTGGCCATTCTGGGCCGCTTCAGGCGGTGTGGTCCGGTTGGAATGAGGTGAGGCAGTGGGTGGTGGCGGAGACACAAAAGAGGATGTAGGAGTCATGGGGATCTTGAGCCCCTCTGTGGATGTGGACAGCCACGGCTGGGCCTCTCCGTTGATCTTAGGGGGCCCGACTTCACCTTCTGGTTCTGGAGAGGGCTTCCTTTTCCTTGCTGTTCTTGCAACTGGAAACACAAAGAAATAAAAGGAAAAAGGTAACATAAGTGGCGGTGCACTGAAAGAGATCATTCTCTTCCTAACCCGAAACAAAAGTCGTTACAGAATTCCTCCTCTCTAAAAGCACAGACAGAAAATACTCATATACGAGTTTCAGGTGCACATGCAACTTAAAACCTTCAGGCGTACGGGATTCTGAGGCAGCAGACTGATTTAAAATGGAGCCACTGAAAATGACACGCTTGTAACTGCCTGTTTGTACACATGCACAAAAGTACCCTCGTTTGCACTCAACATGTGACTGCTAATGTCCCCCAATAGGTTAAAAGGTGACTGGTGCCCTCATGCTCCCATCCAAGAATGTGCTGGGAAAGGAAAACCCCGTGTCAGAGCGTATCAGCCCAGTCTGACTCATCTCTGTTATGCTGCTTCAGCACATGAACACGTTGCCACCAAGCACTGGTTCCGCCTCAGGCAGATCAGGAAGTGGGGTGTTTGTTGTTTCTGGGCTGGGGTAAAATGGTGAATCCAAAGAACCACCCTTCCTCTGCTCTCCGTCCCCTTTTCTCCCCTAGACCCCCTCACTTCACAGCCGCCCCTACCTGCTTTAGACCCGTTGGCCCCGTTGGCCTCGAAACCCAACAACCTGCCTGCAGTCAGGGCCGGCTCCTTCTTAAACTTGCTCTCGAAGGGCCCCGAGTGGCCGTGCTGGTGCAGCGCCAGCAGCGTGTCGCGCACGGTCTTGGGCCTGTTGACCCAGTCCTGCTCTCCAGACCCGCGGCTCTTGCCCGCACCTTCCGCGCTCAGCTCGGCGGCCCCGGCCGCGGTGGACAGGCTGTCGGCCGGGCCCCGGTGCGCAGGCGGCGGCGGTTGTTTCTCCTTGGCTGCCGCCTCACGCTGCTCGTGCTCCACGGCAGCGCTGCTCGACACGGATGCCGGCCGCTTGTGGGCGCCCAGATCGGTGGGCTGCGCGGAGCCCAGGCTGGCGGCCGCGGTTCCGGACACCGCGGCTAAGGAGGCGGCAGCGCGGCCGCCGAGGCCGAGCGCGGTGGGCAGCGGCGTGGCCGAGCCGTTCATGAGCGGCACCAGGGTGGGCGGCACCGCGTGGCCGCGCCGCGGGTTCGGGCTCTGGCGATTCAGCTCGGGCGGCTCCTCTAGCTTGGAGAAGCCGTTGGGCACCAGGATGCCGTTCACGGGCGGCGGCTGCGGCGTCGGCGGCTGGGCCAGGCTCGCTGCCGGGCGGCTGCTGCCGAAGTCAGAGCCGAGGCGCGGGGGCCTCTCGGCCGCGGCCGCCAACGGGTAGCGCTCCAAGGCCTGCGGCGCGCGCGGGGCCGCCTCGGGGCCGCCGTGGCCAAGCTGCTGCTGCTGCTGCAAAAGGATGTCCTTGGCGGAGAGCGGCGGCGGCTTGGCGGCGGCCGAGGCCGCGGCGCCGGGTGGGGAGCGACCCTCCGG
Task1_train_2884
This sequence change occurs on Chromosome 1, altering GGPS1 (geranylgeranyl diphosphate synthase 1). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; not provided
GGCCCAGACTTAGAAAAAAAGGATCAGGCCGGGCACAGTAGCTAACACCTGCAATTCCAACACTTTGGGAGGCTGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATTCAAAAAATTAGCTGGGCGTGGTGGCAAGAACCTGTAATCCCTGCTATTCGGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACGAGCAAAACTCCGTCTCAAAAAAAAAAAACAAAAGGACCTTTGAGCAATCAGAATAACACAAAGTACATGAACTGAACTTCATTTTCTTCATTCAAAAGAAAGTGGCCCTCACTCAAGCAAATATATTCTTGTGCTTTATCTTCTGGCATACTGAGATAACTTTCTAAAGTGGTTTCCAATTCCAAAATCCAATGATGTGCAACTCATTGAACAGCCCTAACCACAAACTGCCATTAGATGCCATATTACATTTAGCCTTTTTGTTGTAGAAAAGTTGGTTAGAAGTGGGCTCAGGATTCTAAAGACTAAATCATAGTCCCAAGAAGCAAAAGAAAGAGGATAAAAGTAATAAACTTCCCAAAATGTGCCAAAGATGCTAGAGCAGTTAGATTCCTAATATGAGGACAAGTAATAATAGAAACAGATACAAAGAAATAAAGTAGAGATTCAACAGTACAGGGAGACCCTAGGAAGACCATGAGTGTTATTCTAGGAAATACTGAAATAAGACAGATTTCAGTATAAAGGGGAATATGTTTAATAAATATATGCATTTGAGTTAATGCGTATTTTAAATCAGAAATCTCTGAAATGGATTGATTGTAGAGAAACTACTAGGGGGACGAGGAGAATCCCTTTAAATTTTAAATACATAAAACATACTCATCTTAGTGCTCATTTAAAAAAGGATATGTTTACTAATTAGTGTAATCAGTTAAATACAGAGGTATCTTTCCAATTCTTTGGATGTGTTTTGACATTTGCCGTCAACAAATTAAGCCTTTTGTGGTTGATTAAAATAGGAAAAGCTTAATATAAGTTATGTGACTAAGAAAACAACTTAAAAACCAAGACAACACTTTGACCAATATAATCACTTGAATGAAGAATTTTCTAATTGAGATATAATTTACATACCACCCATTTAAAGTGTACATTTCAGCAGTTTTTAGTGTATTCACAGGGCTGTGCAACCATCACAATTTAATTTTATAACATTTTGATCCCTGCGAAAAGAAACCCTGTACTCATTAGCAATTAGTCCCTGTTCCTAACCACTAATCTACTTTCTTTCTCTGTAGATTGGCTTATTCTGAACATTTCGTATAAATGGAATCATACAATATGTAGTCTCTTGAGATTGGCTTCTTTCACTTAACATGTTTTCAAGGCTTCATAGCTGTAGAATCTTGCTTTGTTTTTTTGAGACTGGAGTCACTCTTTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGCCAGAACTACAGGCACACACCACCATGCTCGGCTAATCTTTGTAGTTTTAGTAGAGATGGTGTGAAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCCACCTCAGCTAATTTTTCATATTTTTAGTAGAGACAAGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTTAAGCTATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACTACCGTGCCCAGCAACAGAATCTTCTTTTTAAACCAGACTAGGTGTCTTTTCACAAACACCCTGCAATACAAATTCCTTTGCAGTTTGACACTGAAAGATGATTAGTTTCATGTGATCTTTATGTTTCTCCTTTTTGACAGATTAGCTTTGAAGTTTAAATCCAATGGAGAAGACTCAAGAAACAGTCCAAAGAATTCTTCTAGAACCCTATAAATACTTACTTCAGTTACCAGGTAATACTTCACTTACAGTCCATATAGGGTCATTTTCATGCAGTAGTGGTCGTTCAAATGTTAGCAAATAGAAAAGGTTAGACTTGCTAGCCGTTGAGATTTTCTATTTAAGGTGATGCGTATGAGAAAAATGATAAATAGAACATTATAATTTTTTCTTTATTAAAAGGTAATTTTTGCCAGGTGCAGTGATACATACCTGTTGTCCCACCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCCAGGAGTTTAAGGCTATAGTGCACAATGATCACACCTGTGAATAGCCACTACACTCCAGCTTGGGCAACATAGTGAGACCCCGTCTCTTAAAAAGAAACGTAATTTTTGAAGGCACCCTTTAAAACATATCCAATTATTTAACATATCTTGAAAAATAAAAATACTTAAAACATTTTGGTATCTCATTGGAGGTTGTACTCTTTACGGATATTACGCATTCAGATTCCCCACTGTTTAGATATTAGGGGAAGTTACGCAGATTTGTTTAACAGTAGAACACTTTATTTACCATACATGTTCAAGTTTACCTTCTATGTCTGTATTTTCCAGTATCTCACACATACACTGCATTTCATATACTACTGGTTCCTTTGAGAGCCAAATAATAATGTATCTAAAATCACAGTATTTGGAAATATAGCCCACTTTATTCCTGTATAAGGGTATGCCACCTTGGACATGGCTTCCTACCTCACGTGTACGTGTGTGTTTTTGTTTTATTTTGCTTCTTTAAAAACTTGTCTGGAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTTTGAGGCCAAGGCGGGCGGATCATGAGGTCAAGAGGTTGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAACACAAAAGTTAGCTGGGCATGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAACCTGGAAGGCAGAGGTTGCAGTGAGCTGAGATTGCATCACTGCACTCCAGCCTGGCAACAGAATGAGACTCCGACTCAAAAAAAAAGAAGAACTTGTCTGGAAATGATAATAAGCAAAAACTCATGAATATAATAAACAGGGGTTATTGTAATAAAAAATCATTTGTATTAGAATATTCTTTCTCATAGACATAATATAGGCCAGGTGTGGTGGCCCACACCTGTATTCCCAGCACTTTGGGAAGCCAAGGCAGGATTGCTTGAGACCAAAAGTTTGAGACCACCTTGGGCAACATAACAAGTCCCCCTCTCTGTTTTAAACATTTTTTAAAAAAGAAGAAATAATATAAAAGTTGGTAAATTATTTGACAAGCATAAAAACCTATTTAGCCATACTGTGACTAAACTCTAATGATGCTCTCAATTCAGTCTCAATAGACACTTTTAAATTTCCGTGCTAAAGTACACACCTTTCTTTATGAGCACTTCTCTGTGGTAATATGTGCATTTCTGTTCTTCATGAGCCTGGGAAGGATAAAAGCCAAAAGAATGCTTGCTCCTGTGCTACACCTTGGAAACCATAATTAGTGTCATTTTTATTTTGGCCGACCCTAATAGAGACTCGCCTGCTAATGTCAATGCATGAGAAGAATGAGGGAATGACAGAAATGGAGAATTCAAAGGGAAGGTTGCCCACTGTTTAAGAAAAAGCCAAGAGACTGCTTTTGAGTGACATTTATCCAGCAGTTAGTAACTTATTTCAGTATCTCCCAGTGAGAAACATGGCACAGTTTCACTTTCACTCTACCCAGCTCTTACTGCCAGACATCCTTTAGAACACGCTCACAAACACTAGCTGGAACTGGGCTGGCATTAATAGCAAGCCAGTTATCAGTGCTGACAAAAGTCTAACAAGCATCGCTTGAATGTCTCTTACTCTGCTACTTACAAAGCAAGGACTGCCTACAGTTACATTTTAACCATAATGCTTACTTATGCTGTGACCACCTTCTGTGACTTCCTTTTTTTTAATTCTCATTAC
GGCCCAGACTTAGAAAAAAAGGATCAGGCCGGGCACAGTAGCTAACACCTGCAATTCCAACACTTTGGGAGGCTGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATTCAAAAAATTAGCTGGGCGTGGTGGCAAGAACCTGTAATCCCTGCTATTCGGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACGAGCAAAACTCCGTCTCAAAAAAAAAAAACAAAAGGACCTTTGAGCAATCAGAATAACACAAAGTACATGAACTGAACTTCATTTTCTTCATTCAAAAGAAAGTGGCCCTCACTCAAGCAAATATATTCTTGTGCTTTATCTTCTGGCATACTGAGATAACTTTCTAAAGTGGTTTCCAATTCCAAAATCCAATGATGTGCAACTCATTGAACAGCCCTAACCACAAACTGCCATTAGATGCCATATTACATTTAGCCTTTTTGTTGTAGAAAAGTTGGTTAGAAGTGGGCTCAGGATTCTAAAGACTAAATCATAGTCCCAAGAAGCAAAAGAAAGAGGATAAAAGTAATAAACTTCCCAAAATGTGCCAAAGATGCTAGAGCAGTTAGATTCCTAATATGAGGACAAGTAATAATAGAAACAGATACAAAGAAATAAAGTAGAGATTCAACAGTACAGGGAGACCCTAGGAAGACCATGAGTGTTATTCTAGGAAATACTGAAATAAGACAGATTTCAGTATAAAGGGGAATATGTTTAATAAATATATGCATTTGAGTTAATGCGTATTTTAAATCAGAAATCTCTGAAATGGATTGATTGTAGAGAAACTACTAGGGGGACGAGGAGAATCCCTTTAAATTTTAAATACATAAAACATACTCATCTTAGTGCTCATTTAAAAAAGGATATGTTTACTAATTAGTGTAATCAGTTAAATACAGAGGTATCTTTCCAATTCTTTGGATGTGTTTTGACATTTGCCGTCAACAAATTAAGCCTTTTGTGGTTGATTAAAATAGGAAAAGCTTAATATAAGTTATGTGACTAAGAAAACAACTTAAAAACCAAGACAACACTTTGACCAATATAATCACTTGAATGAAGAATTTTCTAATTGAGATATAATTTACATACCACCCATTTAAAGTGTACATTTCAGCAGTTTTTAGTGTATTCACAGGGCTGTGCAACCATCACAATTTAATTTTATAACATTTTGATCCCTGCGAAAAGAAACCCTGTACTCATTAGCAATTAGTCCCTGTTCCTAACCACTAATCTACTTTCTTTCTCTGTAGATTGGCTTATTCTGAACATTTCGTATAAATGGAATCATACAATATGTAGTCTCTTGAGATTGGCTTCTTTCACTTAACATGTTTTCAAGGCTTCATAGCTGTAGAATCTTGCTTTGTTTTTTTGAGACTGGAGTCACTCTTTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGCCAGAACTACAGGCACACACCACCATGCTCGGCTAATCTTTGTAGTTTTAGTAGAGATGGTGTGAAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCCACCTCAGCTAATTTTTCATATTTTTAGTAGAGACAAGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTTAAGCTATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACTACCGTGCCCAGCAACAGAATCTTCTTTTTAAACCAGACTAGGTGTCTTTTCACAAACACCCTGCAATACAAATTCCTTTGCAGTTTGACACTGAAAGATGATTAGTTTCATGTGATCTTTATGTTTCTCCTTTTTGACAGATTAGCTTTGAAGTTTAAATCCAATGGAGAAGACTCAAGAAACAGTCCAAAGAATTCTTCTAGAATCCTATAAATACTTACTTCAGTTACCAGGTAATACTTCACTTACAGTCCATATAGGGTCATTTTCATGCAGTAGTGGTCGTTCAAATGTTAGCAAATAGAAAAGGTTAGACTTGCTAGCCGTTGAGATTTTCTATTTAAGGTGATGCGTATGAGAAAAATGATAAATAGAACATTATAATTTTTTCTTTATTAAAAGGTAATTTTTGCCAGGTGCAGTGATACATACCTGTTGTCCCACCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCCAGGAGTTTAAGGCTATAGTGCACAATGATCACACCTGTGAATAGCCACTACACTCCAGCTTGGGCAACATAGTGAGACCCCGTCTCTTAAAAAGAAACGTAATTTTTGAAGGCACCCTTTAAAACATATCCAATTATTTAACATATCTTGAAAAATAAAAATACTTAAAACATTTTGGTATCTCATTGGAGGTTGTACTCTTTACGGATATTACGCATTCAGATTCCCCACTGTTTAGATATTAGGGGAAGTTACGCAGATTTGTTTAACAGTAGAACACTTTATTTACCATACATGTTCAAGTTTACCTTCTATGTCTGTATTTTCCAGTATCTCACACATACACTGCATTTCATATACTACTGGTTCCTTTGAGAGCCAAATAATAATGTATCTAAAATCACAGTATTTGGAAATATAGCCCACTTTATTCCTGTATAAGGGTATGCCACCTTGGACATGGCTTCCTACCTCACGTGTACGTGTGTGTTTTTGTTTTATTTTGCTTCTTTAAAAACTTGTCTGGAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTTTGAGGCCAAGGCGGGCGGATCATGAGGTCAAGAGGTTGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAACACAAAAGTTAGCTGGGCATGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAACCTGGAAGGCAGAGGTTGCAGTGAGCTGAGATTGCATCACTGCACTCCAGCCTGGCAACAGAATGAGACTCCGACTCAAAAAAAAAGAAGAACTTGTCTGGAAATGATAATAAGCAAAAACTCATGAATATAATAAACAGGGGTTATTGTAATAAAAAATCATTTGTATTAGAATATTCTTTCTCATAGACATAATATAGGCCAGGTGTGGTGGCCCACACCTGTATTCCCAGCACTTTGGGAAGCCAAGGCAGGATTGCTTGAGACCAAAAGTTTGAGACCACCTTGGGCAACATAACAAGTCCCCCTCTCTGTTTTAAACATTTTTTAAAAAAGAAGAAATAATATAAAAGTTGGTAAATTATTTGACAAGCATAAAAACCTATTTAGCCATACTGTGACTAAACTCTAATGATGCTCTCAATTCAGTCTCAATAGACACTTTTAAATTTCCGTGCTAAAGTACACACCTTTCTTTATGAGCACTTCTCTGTGGTAATATGTGCATTTCTGTTCTTCATGAGCCTGGGAAGGATAAAAGCCAAAAGAATGCTTGCTCCTGTGCTACACCTTGGAAACCATAATTAGTGTCATTTTTATTTTGGCCGACCCTAATAGAGACTCGCCTGCTAATGTCAATGCATGAGAAGAATGAGGGAATGACAGAAATGGAGAATTCAAAGGGAAGGTTGCCCACTGTTTAAGAAAAAGCCAAGAGACTGCTTTTGAGTGACATTTATCCAGCAGTTAGTAACTTATTTCAGTATCTCCCAGTGAGAAACATGGCACAGTTTCACTTTCACTCTACCCAGCTCTTACTGCCAGACATCCTTTAGAACACGCTCACAAACACTAGCTGGAACTGGGCTGGCATTAATAGCAAGCCAGTTATCAGTGCTGACAAAAGTCTAACAAGCATCGCTTGAATGTCTCTTACTCTGCTACTTACAAAGCAAGGACTGCCTACAGTTACATTTTAACCATAATGCTTACTTATGCTGTGACCACCTTCTGTGACTTCCTTTTTTTTAATTCTCATTAC
Task1_train_2885
A variant on Chromosome 1 in gene GGPS1 (geranylgeranyl diphosphate synthase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
GTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAGAAAGAAAAAAAGAAGATACTGAAAAATAGATGTCCCTAGTCAAAATAATGAGATTAGCTTTTGACTAAACTCAGGATATTAAAAGGGAATACTTCAGTGCATGATGATCTCATTTTTGAAAGGAAAGAAGCAGAGCTTCCCCATCTCTAAAACCTTAATTCAAAGGAGAAATAGATAATTTCAAGAGGTATTTTTATGAGGTAATAGTAAAATATATTTTATTAACAGTACCTATAGTTATGTAAAATAGGTAGTGCCAATTAACTGACACTAAACTAGCTTCTTGGCCTGGCGCAGTGGCTCACGCCTGTAATCCAAACACTTTGGGAGGCCGATGCGGGTGTATCGCTTGGGCTCAGGAATTCAAGGCCAGCCTGGGCAACATATTAAAACCCCCTTTCTATAAAATATACAAAAATTAGCCAGGCATGGTGTGTGCCTGTAGTCCCAGATACTCAGGAGGCTGAGGCACGAGAATCATGTGAACCCAGGAGGTGGAGTTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAATAATTAATAAATAAACTAGCTTCCTTTTCAAAAAAAGAAATAAATTAGGTCCTAAGTCCTAAAAGCCCATCCTACTTTAAAATTGTTTATTCAAGTTCAGATGAAAAGAGTGGACTAGTAGGCAACTGAAGTGCTTTAGAGTCTCCCGTGCCTGCCCTAATTTTAGAAGGTTGTGCACTTTATGATCCAGATTTCTGAGTGGTTGAGAATGAGTTATTGAGCAGTGCAAGGCAAGCTCTGCAGTAGGTAATGGATTGATGAGGCTGGATTTAGCAAGTCTGATCAATCTAAAGGAAGTTTCTGAATGTGTTTTTTGTAGTTAAAATACTCATAATTAAAACACTTATCACATTGTCACATTTTATTTTTAAATTGCAGGTAAACAAGTGAGAACCAAACTTTCACAGGCATTTAATCATTGGCTGAAAGTTCCAGAGGACAAGCTACAGGTATTAGGCAACTCTAACCTCATTAATCCCCAAGAAATTAATAGCTGTCGCATAAAAATATTCCTAGTTCTTGATTGAATTTAGTCCTCATGCAAGATATTATTTTATATTGAGGTTGCTAAATATTTATTAGTTGTGAAAATTAACACACCTGAGACTTTCATAATCTGTTAATTAAACTGAGTAAGTTTTGAATAGTTCAAATAAGTGAAATTTTCAATTTTTTTATTAGATTATTATTGAAGTGACAGAAATGTTGCATAATGCCAGTTTACTCATCGATGATATTGAAGACAACTCAAAACTCCGACGTGGCTTTCCAGTGGCCCACAGCATCTATGGAATCCCATCTGTCATCAATTCTGCCAATTACGTGTATTTCCTTGGCTTGGAGAAAGTCTTAACCCTTGATCACCCAGATGCAGTGAAGCTTTTTACCCGCCAGCTTTTGGAACTCCATCAGGGACAAGGCCTAGATATTTACTGGAGGGATAATTACACTTGTCCCACTGAAGAAGAATATAAAGCTATGGTGCTGCAGAAAACAGGTGGACTGTTTGGATTAGCAGTAGGTCTCATGCAGTTGTTCTCTGATTACAAAGAAGATTTAAAACCGCTACTTAATACACTTGGGCTCTTTTTCCAAATTAGGGATGATTATGCTAATCTACACTCCAAAGAATATAGTGAAAACAAAAGTTTTTGTGAAGATCTGACAGAGGGAAAGTTCTCATTTCCTACTATTCATGCTATTTGGTCAAGGCCTGAAAGCACCCAGGTGCAGAATATCTTGCGCCAGAGAACAGAAAACATAGATATAAAAAAATACTGTGTACATTATCTTGAGGATGTAGGTTCTTTTGAATACACTCGTAATACCCTTAAAGAGCTTGAAGCTAAAGCCTATAAACAGATTGATGCACGTGGTGGGAACCCTGAGCTAGTAGCCTTAGTAAAACACTTAAGTAAGATGTTCAAAGAAGAAAATGAATAATGTTAAGCCATTCTTGATTGGACCTCATAGCTTATTTTAGTTAATCTTTTTTTTGTCTTTTAGCCTTACCACCTTTTAAAAAATTTGTTATTCTCCAGAAACAGTAAATAGGTGAGTAGGGGTGGTGCAAGTGAATTCGTTTTCATTTAGAAGCCCCTCTGTACAGATAATCAAAATTCAAAGTTGAAAGAATCAAAAGCAGCCACAGTTATGTAGGTCTGATTTGAATGTCATAATTGCAGTGACAGGACATTGCCACCAACTCTATCCTACTACCATCAATGTTGTGTTTATTCCGTCAATAAAAAAGACTTGCTTCCAGGAATTTTTATCCATACACTTTCTAACTGTACTATCTGGGCAGTTCCAAGCCAGTTTCTATTAGCTAGCTGGACCAAAGACCACAAATCTCTTTTTTTCCTAAACGCTGCTGTAAGGAATATCTCACTTTTCCCCCCGGAAACACCCTCACTGAAGTCTTCTATGAAAAGGCTGATAATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCTCTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAGGGCTGATAATGATAAACAGTGAGCACTCCGGTCCTTTTTCTTAGGTTTTCCTTTTTTCCTTCCTCTCCACCCCACAAGTTTTGCTTTTTAACCAAGGTGTCTCTGCTTGATGAAATTCACATGCTAGTCTAAATCTTTTTTTCTCCCTTGTAACATTTATGTGCCCCAAACTGGTTAGTATATGGGTACAGCATTCCCTTTCCAATTGGGAAGCGGAAAAAGAGAGTATGGGATATTTTAGAAGGGAGCCTTTGAACCTTATTATATTTCCCCATCATTGATAGTGACAATCTTAAAAGGGTTGTTTTCTTACCTTAAGTACAAAAGCATGGAAAAATGCGCTTTTCCTTCCCGCCCACATCACCACCCCGACTTGAAGACAGTAGGTGCTTGAATGGAAAGTGAGTAGGCATCTTTAATCGCCCTGATTAAAGGAAAGTGTTAGCCTGAGAGGGCCTGACTGAAAAGTAACCAAAGGCTTAATATCAAACACTAATTAGCTTTTTAGTGCCTTAACCCTGACCTGGTTACCAGTTTTCTGTAGTTTCTACACCCAAGCCACTGAAGTCATCTGTGGCCCAAGAGGTAGGACAAAAAAAAAAAAAAAAAAAGCTGATTTCAATATTTGATTTGTTGACATCCCAAAATGAAAGTTTTATGTTTCCCTTAGAAACATGTTTTGCTTGGTTCTATAGTATGTTACTTAGGATCTATTTACCATATATTTGTATGAGAAATCCTCACCCAAGCATTCAACCTAAATCTTTGAAAAGTTGGGTGCTGTCTTTAGTAACTTTTAAAATAGTTTAAATCTCCCATTTTAATAGTGATAAGGAAACCTGTTAAAATCATGGCTATTGATGTTATAGTATGGAAAGTTGAACTTTATGAACCCATACTTTTAAAAAGCATTTTTAAAAATCTAACACTGACTATAGAAACAAATTAAAATGTCTACCTTTAAGTATAAAAATTGCTTAAGTAGATTTGTTCCTTGCCTATCAAATTAATTTTGGCCTGGTGTTCTTCATTATTCATTTGTTAATTTTATCTTGCCTTTGTCAATAACAGAAATGTTTGTCATTGAATTGGGAATTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGT
GTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAGAAAGAAAAAAAGAAGATACTGAAAAATAGATGTCCCTAGTCAAAATAATGAGATTAGCTTTTGACTAAACTCAGGATATTAAAAGGGAATACTTCAGTGCATGATGATCTCATTTTTGAAAGGAAAGAAGCAGAGCTTCCCCATCTCTAAAACCTTAATTCAAAGGAGAAATAGATAATTTCAAGAGGTATTTTTATGAGGTAATAGTAAAATATATTTTATTAACAGTACCTATAGTTATGTAAAATAGGTAGTGCCAATTAACTGACACTAAACTAGCTTCTTGGCCTGGCGCAGTGGCTCACGCCTGTAATCCAAACACTTTGGGAGGCCGATGCGGGTGTATCGCTTGGGCTCAGGAATTCAAGGCCAGCCTGGGCAACATATTAAAACCCCCTTTCTATAAAATATACAAAAATTAGCCAGGCATGGTGTGTGCCTGTAGTCCCAGATACTCAGGAGGCTGAGGCACGAGAATCATGTGAACCCAGGAGGTGGAGTTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAATAATTAATAAATAAACTAGCTTCCTTTTCAAAAAAAGAAATAAATTAGGTCCTAAGTCCTAAAAGCCCATCCTACTTTAAAATTGTTTATTCAAGTTCAGATGAAAAGAGTGGACTAGTAGGCAACTGAAGTGCTTTAGAGTCTCCCGTGCCTGCCCTAATTTTAGAAGGTTGTGCACTTTATGATCCAGATTTCTGAGTGGTTGAGAATGAGTTATTGAGCAGTGCAAGGCAAGCTCTGCAGTAGGTAATGGATTGATGAGGCTGGATTTAGCAAGTCTGATCAATCTAAAGGAAGTTTCTGAATGTGTTTTTTGTAGTTAAAATACTCATAATTAAAACACTTATCACATTGTCACATTTTATTTTTAAATTGCAGGTAAACAAGTGAGAACCAAACTTTCACAGGCATTTAATCATTGGCTGAAAGTTCCAGAGGACAAGCTACAGGTATTAGGCAACTCTAACCTCATTAATCCCCAAGAAATTAATAGCTGTCGCATAAAAATATTCCTAGTTCTTGATTGAATTTAGTCCTCATGCAAGATATTATTTTATATTGAGGTTGCTAAATATTTATTAGTTGTGAAAATTAACACACCTGAGACTTTCATAATCTGTTAATTAAACTGAGTAAGTTTTGAATAGTTCAAATAAGTGAAATTTTCAATTTTTTTATTAGATTATTATTGAAGTGACAGAAATGTTGCATAATGCCAGTTTACTCATCGATGATATTGAAGACAACTCAAAACTCCGACGTGGCTTTCCAGTGGCCCACAGCATCTATGGAATCCCATCTGTCATCAATTCTGCCAATTACGTGTATTTCCTTGGCTTGGAGAAAGTCTTAACCCTTGATCACCCAGATGCAGTGAAGCTTTTTACCCGCCAGCTTTTGGAACTCCATCAGGGACAAGGCCTAGATATTTACTGGAGGGATAATTACACTTGTCCCACTGAAGAAGAATATAAAGCTATGGTGCTGCAGAAAACAGGTGGACTGTTTGGATTAGCAGTAGGTCTCATGCAGTTGTTCTCTGATTACAAAGAAGATTTAAAACCGCTACTTAATACACTTGGGCTCTTTTTCCAAATTAGGGATGATTATGCTAATCTACACTCCAAAGAATATAGTGAAAACAAAAGTTTTTGTGAAGATCTGACAGAGGGAAAGTTCTCATTTCCTACTATTCATGCTATTTGGTCAAGGCCTGAAAGCACCCAGGTGCAGAATATCTTGCGCCAGAGAACAGAAAACATAGATATAAAAAAATACTGTGTACATTATCTTGAGGATGTAGGTTCTTTTGAATGCACTCGTAATACCCTTAAAGAGCTTGAAGCTAAAGCCTATAAACAGATTGATGCACGTGGTGGGAACCCTGAGCTAGTAGCCTTAGTAAAACACTTAAGTAAGATGTTCAAAGAAGAAAATGAATAATGTTAAGCCATTCTTGATTGGACCTCATAGCTTATTTTAGTTAATCTTTTTTTTGTCTTTTAGCCTTACCACCTTTTAAAAAATTTGTTATTCTCCAGAAACAGTAAATAGGTGAGTAGGGGTGGTGCAAGTGAATTCGTTTTCATTTAGAAGCCCCTCTGTACAGATAATCAAAATTCAAAGTTGAAAGAATCAAAAGCAGCCACAGTTATGTAGGTCTGATTTGAATGTCATAATTGCAGTGACAGGACATTGCCACCAACTCTATCCTACTACCATCAATGTTGTGTTTATTCCGTCAATAAAAAAGACTTGCTTCCAGGAATTTTTATCCATACACTTTCTAACTGTACTATCTGGGCAGTTCCAAGCCAGTTTCTATTAGCTAGCTGGACCAAAGACCACAAATCTCTTTTTTTCCTAAACGCTGCTGTAAGGAATATCTCACTTTTCCCCCCGGAAACACCCTCACTGAAGTCTTCTATGAAAAGGCTGATAATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCTCTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAGGGCTGATAATGATAAACAGTGAGCACTCCGGTCCTTTTTCTTAGGTTTTCCTTTTTTCCTTCCTCTCCACCCCACAAGTTTTGCTTTTTAACCAAGGTGTCTCTGCTTGATGAAATTCACATGCTAGTCTAAATCTTTTTTTCTCCCTTGTAACATTTATGTGCCCCAAACTGGTTAGTATATGGGTACAGCATTCCCTTTCCAATTGGGAAGCGGAAAAAGAGAGTATGGGATATTTTAGAAGGGAGCCTTTGAACCTTATTATATTTCCCCATCATTGATAGTGACAATCTTAAAAGGGTTGTTTTCTTACCTTAAGTACAAAAGCATGGAAAAATGCGCTTTTCCTTCCCGCCCACATCACCACCCCGACTTGAAGACAGTAGGTGCTTGAATGGAAAGTGAGTAGGCATCTTTAATCGCCCTGATTAAAGGAAAGTGTTAGCCTGAGAGGGCCTGACTGAAAAGTAACCAAAGGCTTAATATCAAACACTAATTAGCTTTTTAGTGCCTTAACCCTGACCTGGTTACCAGTTTTCTGTAGTTTCTACACCCAAGCCACTGAAGTCATCTGTGGCCCAAGAGGTAGGACAAAAAAAAAAAAAAAAAAAGCTGATTTCAATATTTGATTTGTTGACATCCCAAAATGAAAGTTTTATGTTTCCCTTAGAAACATGTTTTGCTTGGTTCTATAGTATGTTACTTAGGATCTATTTACCATATATTTGTATGAGAAATCCTCACCCAAGCATTCAACCTAAATCTTTGAAAAGTTGGGTGCTGTCTTTAGTAACTTTTAAAATAGTTTAAATCTCCCATTTTAATAGTGATAAGGAAACCTGTTAAAATCATGGCTATTGATGTTATAGTATGGAAAGTTGAACTTTATGAACCCATACTTTTAAAAAGCATTTTTAAAAATCTAACACTGACTATAGAAACAAATTAAAATGTCTACCTTTAAGTATAAAAATTGCTTAAGTAGATTTGTTCCTTGCCTATCAAATTAATTTTGGCCTGGTGTTCTTCATTATTCATTTGTTAATTTTATCTTGCCTTTGTCAATAACAGAAATGTTTGTCATTGAATTGGGAATTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGT
Task1_train_2886
The following genetic variant occurs in GGPS1 (geranylgeranyl diphosphate synthase 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
AGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAGAAAGAAAAAAAGAAGATACTGAAAAATAGATGTCCCTAGTCAAAATAATGAGATTAGCTTTTGACTAAACTCAGGATATTAAAAGGGAATACTTCAGTGCATGATGATCTCATTTTTGAAAGGAAAGAAGCAGAGCTTCCCCATCTCTAAAACCTTAATTCAAAGGAGAAATAGATAATTTCAAGAGGTATTTTTATGAGGTAATAGTAAAATATATTTTATTAACAGTACCTATAGTTATGTAAAATAGGTAGTGCCAATTAACTGACACTAAACTAGCTTCTTGGCCTGGCGCAGTGGCTCACGCCTGTAATCCAAACACTTTGGGAGGCCGATGCGGGTGTATCGCTTGGGCTCAGGAATTCAAGGCCAGCCTGGGCAACATATTAAAACCCCCTTTCTATAAAATATACAAAAATTAGCCAGGCATGGTGTGTGCCTGTAGTCCCAGATACTCAGGAGGCTGAGGCACGAGAATCATGTGAACCCAGGAGGTGGAGTTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAATAATTAATAAATAAACTAGCTTCCTTTTCAAAAAAAGAAATAAATTAGGTCCTAAGTCCTAAAAGCCCATCCTACTTTAAAATTGTTTATTCAAGTTCAGATGAAAAGAGTGGACTAGTAGGCAACTGAAGTGCTTTAGAGTCTCCCGTGCCTGCCCTAATTTTAGAAGGTTGTGCACTTTATGATCCAGATTTCTGAGTGGTTGAGAATGAGTTATTGAGCAGTGCAAGGCAAGCTCTGCAGTAGGTAATGGATTGATGAGGCTGGATTTAGCAAGTCTGATCAATCTAAAGGAAGTTTCTGAATGTGTTTTTTGTAGTTAAAATACTCATAATTAAAACACTTATCACATTGTCACATTTTATTTTTAAATTGCAGGTAAACAAGTGAGAACCAAACTTTCACAGGCATTTAATCATTGGCTGAAAGTTCCAGAGGACAAGCTACAGGTATTAGGCAACTCTAACCTCATTAATCCCCAAGAAATTAATAGCTGTCGCATAAAAATATTCCTAGTTCTTGATTGAATTTAGTCCTCATGCAAGATATTATTTTATATTGAGGTTGCTAAATATTTATTAGTTGTGAAAATTAACACACCTGAGACTTTCATAATCTGTTAATTAAACTGAGTAAGTTTTGAATAGTTCAAATAAGTGAAATTTTCAATTTTTTTATTAGATTATTATTGAAGTGACAGAAATGTTGCATAATGCCAGTTTACTCATCGATGATATTGAAGACAACTCAAAACTCCGACGTGGCTTTCCAGTGGCCCACAGCATCTATGGAATCCCATCTGTCATCAATTCTGCCAATTACGTGTATTTCCTTGGCTTGGAGAAAGTCTTAACCCTTGATCACCCAGATGCAGTGAAGCTTTTTACCCGCCAGCTTTTGGAACTCCATCAGGGACAAGGCCTAGATATTTACTGGAGGGATAATTACACTTGTCCCACTGAAGAAGAATATAAAGCTATGGTGCTGCAGAAAACAGGTGGACTGTTTGGATTAGCAGTAGGTCTCATGCAGTTGTTCTCTGATTACAAAGAAGATTTAAAACCGCTACTTAATACACTTGGGCTCTTTTTCCAAATTAGGGATGATTATGCTAATCTACACTCCAAAGAATATAGTGAAAACAAAAGTTTTTGTGAAGATCTGACAGAGGGAAAGTTCTCATTTCCTACTATTCATGCTATTTGGTCAAGGCCTGAAAGCACCCAGGTGCAGAATATCTTGCGCCAGAGAACAGAAAACATAGATATAAAAAAATACTGTGTACATTATCTTGAGGATGTAGGTTCTTTTGAATACACTCGTAATACCCTTAAAGAGCTTGAAGCTAAAGCCTATAAACAGATTGATGCACGTGGTGGGAACCCTGAGCTAGTAGCCTTAGTAAAACACTTAAGTAAGATGTTCAAAGAAGAAAATGAATAATGTTAAGCCATTCTTGATTGGACCTCATAGCTTATTTTAGTTAATCTTTTTTTTGTCTTTTAGCCTTACCACCTTTTAAAAAATTTGTTATTCTCCAGAAACAGTAAATAGGTGAGTAGGGGTGGTGCAAGTGAATTCGTTTTCATTTAGAAGCCCCTCTGTACAGATAATCAAAATTCAAAGTTGAAAGAATCAAAAGCAGCCACAGTTATGTAGGTCTGATTTGAATGTCATAATTGCAGTGACAGGACATTGCCACCAACTCTATCCTACTACCATCAATGTTGTGTTTATTCCGTCAATAAAAAAGACTTGCTTCCAGGAATTTTTATCCATACACTTTCTAACTGTACTATCTGGGCAGTTCCAAGCCAGTTTCTATTAGCTAGCTGGACCAAAGACCACAAATCTCTTTTTTTCCTAAACGCTGCTGTAAGGAATATCTCACTTTTCCCCCCGGAAACACCCTCACTGAAGTCTTCTATGAAAAGGCTGATAATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCTCTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAGGGCTGATAATGATAAACAGTGAGCACTCCGGTCCTTTTTCTTAGGTTTTCCTTTTTTCCTTCCTCTCCACCCCACAAGTTTTGCTTTTTAACCAAGGTGTCTCTGCTTGATGAAATTCACATGCTAGTCTAAATCTTTTTTTCTCCCTTGTAACATTTATGTGCCCCAAACTGGTTAGTATATGGGTACAGCATTCCCTTTCCAATTGGGAAGCGGAAAAAGAGAGTATGGGATATTTTAGAAGGGAGCCTTTGAACCTTATTATATTTCCCCATCATTGATAGTGACAATCTTAAAAGGGTTGTTTTCTTACCTTAAGTACAAAAGCATGGAAAAATGCGCTTTTCCTTCCCGCCCACATCACCACCCCGACTTGAAGACAGTAGGTGCTTGAATGGAAAGTGAGTAGGCATCTTTAATCGCCCTGATTAAAGGAAAGTGTTAGCCTGAGAGGGCCTGACTGAAAAGTAACCAAAGGCTTAATATCAAACACTAATTAGCTTTTTAGTGCCTTAACCCTGACCTGGTTACCAGTTTTCTGTAGTTTCTACACCCAAGCCACTGAAGTCATCTGTGGCCCAAGAGGTAGGACAAAAAAAAAAAAAAAAAAAGCTGATTTCAATATTTGATTTGTTGACATCCCAAAATGAAAGTTTTATGTTTCCCTTAGAAACATGTTTTGCTTGGTTCTATAGTATGTTACTTAGGATCTATTTACCATATATTTGTATGAGAAATCCTCACCCAAGCATTCAACCTAAATCTTTGAAAAGTTGGGTGCTGTCTTTAGTAACTTTTAAAATAGTTTAAATCTCCCATTTTAATAGTGATAAGGAAACCTGTTAAAATCATGGCTATTGATGTTATAGTATGGAAAGTTGAACTTTATGAACCCATACTTTTAAAAAGCATTTTTAAAAATCTAACACTGACTATAGAAACAAATTAAAATGTCTACCTTTAAGTATAAAAATTGCTTAAGTAGATTTGTTCCTTGCCTATCAAATTAATTTTGGCCTGGTGTTCTTCATTATTCATTTGTTAATTTTATCTTGCCTTTGTCAATAACAGAAATGTTTGTCATTGAATTGGGAATTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCC
AGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAGAAAGAAAAAAAGAAGATACTGAAAAATAGATGTCCCTAGTCAAAATAATGAGATTAGCTTTTGACTAAACTCAGGATATTAAAAGGGAATACTTCAGTGCATGATGATCTCATTTTTGAAAGGAAAGAAGCAGAGCTTCCCCATCTCTAAAACCTTAATTCAAAGGAGAAATAGATAATTTCAAGAGGTATTTTTATGAGGTAATAGTAAAATATATTTTATTAACAGTACCTATAGTTATGTAAAATAGGTAGTGCCAATTAACTGACACTAAACTAGCTTCTTGGCCTGGCGCAGTGGCTCACGCCTGTAATCCAAACACTTTGGGAGGCCGATGCGGGTGTATCGCTTGGGCTCAGGAATTCAAGGCCAGCCTGGGCAACATATTAAAACCCCCTTTCTATAAAATATACAAAAATTAGCCAGGCATGGTGTGTGCCTGTAGTCCCAGATACTCAGGAGGCTGAGGCACGAGAATCATGTGAACCCAGGAGGTGGAGTTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAATAATTAATAAATAAACTAGCTTCCTTTTCAAAAAAAGAAATAAATTAGGTCCTAAGTCCTAAAAGCCCATCCTACTTTAAAATTGTTTATTCAAGTTCAGATGAAAAGAGTGGACTAGTAGGCAACTGAAGTGCTTTAGAGTCTCCCGTGCCTGCCCTAATTTTAGAAGGTTGTGCACTTTATGATCCAGATTTCTGAGTGGTTGAGAATGAGTTATTGAGCAGTGCAAGGCAAGCTCTGCAGTAGGTAATGGATTGATGAGGCTGGATTTAGCAAGTCTGATCAATCTAAAGGAAGTTTCTGAATGTGTTTTTTGTAGTTAAAATACTCATAATTAAAACACTTATCACATTGTCACATTTTATTTTTAAATTGCAGGTAAACAAGTGAGAACCAAACTTTCACAGGCATTTAATCATTGGCTGAAAGTTCCAGAGGACAAGCTACAGGTATTAGGCAACTCTAACCTCATTAATCCCCAAGAAATTAATAGCTGTCGCATAAAAATATTCCTAGTTCTTGATTGAATTTAGTCCTCATGCAAGATATTATTTTATATTGAGGTTGCTAAATATTTATTAGTTGTGAAAATTAACACACCTGAGACTTTCATAATCTGTTAATTAAACTGAGTAAGTTTTGAATAGTTCAAATAAGTGAAATTTTCAATTTTTTTATTAGATTATTATTGAAGTGACAGAAATGTTGCATAATGCCAGTTTACTCATCGATGATATTGAAGACAACTCAAAACTCCGACGTGGCTTTCCAGTGGCCCACAGCATCTATGGAATCCCATCTGTCATCAATTCTGCCAATTACGTGTATTTCCTTGGCTTGGAGAAAGTCTTAACCCTTGATCACCCAGATGCAGTGAAGCTTTTTACCCGCCAGCTTTTGGAACTCCATCAGGGACAAGGCCTAGATATTTACTGGAGGGATAATTACACTTGTCCCACTGAAGAAGAATATAAAGCTATGGTGCTGCAGAAAACAGGTGGACTGTTTGGATTAGCAGTAGGTCTCATGCAGTTGTTCTCTGATTACAAAGAAGATTTAAAACCGCTACTTAATACACTTGGGCTCTTTTTCCAAATTAGGGATGATTATGCTAATCTACACTCCAAAGAATATAGTGAAAACAAAAGTTTTTGTGAAGATCTGACAGAGGGAAAGTTCTCATTTCCTACTATTCATGCTATTTGGTCAAGGCCTGAAAGCACCCAGGTGCAGAATATCTTGCGCCAGAGAACAGAAAACATAGATATAAAAAAATACTGTGTACATTATCTTGAGGATGTAGGTTCTTTTGAATACACTGGTAATACCCTTAAAGAGCTTGAAGCTAAAGCCTATAAACAGATTGATGCACGTGGTGGGAACCCTGAGCTAGTAGCCTTAGTAAAACACTTAAGTAAGATGTTCAAAGAAGAAAATGAATAATGTTAAGCCATTCTTGATTGGACCTCATAGCTTATTTTAGTTAATCTTTTTTTTGTCTTTTAGCCTTACCACCTTTTAAAAAATTTGTTATTCTCCAGAAACAGTAAATAGGTGAGTAGGGGTGGTGCAAGTGAATTCGTTTTCATTTAGAAGCCCCTCTGTACAGATAATCAAAATTCAAAGTTGAAAGAATCAAAAGCAGCCACAGTTATGTAGGTCTGATTTGAATGTCATAATTGCAGTGACAGGACATTGCCACCAACTCTATCCTACTACCATCAATGTTGTGTTTATTCCGTCAATAAAAAAGACTTGCTTCCAGGAATTTTTATCCATACACTTTCTAACTGTACTATCTGGGCAGTTCCAAGCCAGTTTCTATTAGCTAGCTGGACCAAAGACCACAAATCTCTTTTTTTCCTAAACGCTGCTGTAAGGAATATCTCACTTTTCCCCCCGGAAACACCCTCACTGAAGTCTTCTATGAAAAGGCTGATAATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCTCTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAGGGCTGATAATGATAAACAGTGAGCACTCCGGTCCTTTTTCTTAGGTTTTCCTTTTTTCCTTCCTCTCCACCCCACAAGTTTTGCTTTTTAACCAAGGTGTCTCTGCTTGATGAAATTCACATGCTAGTCTAAATCTTTTTTTCTCCCTTGTAACATTTATGTGCCCCAAACTGGTTAGTATATGGGTACAGCATTCCCTTTCCAATTGGGAAGCGGAAAAAGAGAGTATGGGATATTTTAGAAGGGAGCCTTTGAACCTTATTATATTTCCCCATCATTGATAGTGACAATCTTAAAAGGGTTGTTTTCTTACCTTAAGTACAAAAGCATGGAAAAATGCGCTTTTCCTTCCCGCCCACATCACCACCCCGACTTGAAGACAGTAGGTGCTTGAATGGAAAGTGAGTAGGCATCTTTAATCGCCCTGATTAAAGGAAAGTGTTAGCCTGAGAGGGCCTGACTGAAAAGTAACCAAAGGCTTAATATCAAACACTAATTAGCTTTTTAGTGCCTTAACCCTGACCTGGTTACCAGTTTTCTGTAGTTTCTACACCCAAGCCACTGAAGTCATCTGTGGCCCAAGAGGTAGGACAAAAAAAAAAAAAAAAAAAGCTGATTTCAATATTTGATTTGTTGACATCCCAAAATGAAAGTTTTATGTTTCCCTTAGAAACATGTTTTGCTTGGTTCTATAGTATGTTACTTAGGATCTATTTACCATATATTTGTATGAGAAATCCTCACCCAAGCATTCAACCTAAATCTTTGAAAAGTTGGGTGCTGTCTTTAGTAACTTTTAAAATAGTTTAAATCTCCCATTTTAATAGTGATAAGGAAACCTGTTAAAATCATGGCTATTGATGTTATAGTATGGAAAGTTGAACTTTATGAACCCATACTTTTAAAAAGCATTTTTAAAAATCTAACACTGACTATAGAAACAAATTAAAATGTCTACCTTTAAGTATAAAAATTGCTTAAGTAGATTTGTTCCTTGCCTATCAAATTAATTTTGGCCTGGTGTTCTTCATTATTCATTTGTTAATTTTATCTTGCCTTTGTCAATAACAGAAATGTTTGTCATTGAATTGGGAATTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCC
Task1_train_2887
The gene GGPS1 (geranylgeranyl diphosphate synthase 1), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAGAAAGAAAAAAAGAAGATACTGAAAAATAGATGTCCCTAGTCAAAATAATGAGATTAGCTTTTGACTAAACTCAGGATATTAAAAGGGAATACTTCAGTGCATGATGATCTCATTTTTGAAAGGAAAGAAGCAGAGCTTCCCCATCTCTAAAACCTTAATTCAAAGGAGAAATAGATAATTTCAAGAGGTATTTTTATGAGGTAATAGTAAAATATATTTTATTAACAGTACCTATAGTTATGTAAAATAGGTAGTGCCAATTAACTGACACTAAACTAGCTTCTTGGCCTGGCGCAGTGGCTCACGCCTGTAATCCAAACACTTTGGGAGGCCGATGCGGGTGTATCGCTTGGGCTCAGGAATTCAAGGCCAGCCTGGGCAACATATTAAAACCCCCTTTCTATAAAATATACAAAAATTAGCCAGGCATGGTGTGTGCCTGTAGTCCCAGATACTCAGGAGGCTGAGGCACGAGAATCATGTGAACCCAGGAGGTGGAGTTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAATAATTAATAAATAAACTAGCTTCCTTTTCAAAAAAAGAAATAAATTAGGTCCTAAGTCCTAAAAGCCCATCCTACTTTAAAATTGTTTATTCAAGTTCAGATGAAAAGAGTGGACTAGTAGGCAACTGAAGTGCTTTAGAGTCTCCCGTGCCTGCCCTAATTTTAGAAGGTTGTGCACTTTATGATCCAGATTTCTGAGTGGTTGAGAATGAGTTATTGAGCAGTGCAAGGCAAGCTCTGCAGTAGGTAATGGATTGATGAGGCTGGATTTAGCAAGTCTGATCAATCTAAAGGAAGTTTCTGAATGTGTTTTTTGTAGTTAAAATACTCATAATTAAAACACTTATCACATTGTCACATTTTATTTTTAAATTGCAGGTAAACAAGTGAGAACCAAACTTTCACAGGCATTTAATCATTGGCTGAAAGTTCCAGAGGACAAGCTACAGGTATTAGGCAACTCTAACCTCATTAATCCCCAAGAAATTAATAGCTGTCGCATAAAAATATTCCTAGTTCTTGATTGAATTTAGTCCTCATGCAAGATATTATTTTATATTGAGGTTGCTAAATATTTATTAGTTGTGAAAATTAACACACCTGAGACTTTCATAATCTGTTAATTAAACTGAGTAAGTTTTGAATAGTTCAAATAAGTGAAATTTTCAATTTTTTTATTAGATTATTATTGAAGTGACAGAAATGTTGCATAATGCCAGTTTACTCATCGATGATATTGAAGACAACTCAAAACTCCGACGTGGCTTTCCAGTGGCCCACAGCATCTATGGAATCCCATCTGTCATCAATTCTGCCAATTACGTGTATTTCCTTGGCTTGGAGAAAGTCTTAACCCTTGATCACCCAGATGCAGTGAAGCTTTTTACCCGCCAGCTTTTGGAACTCCATCAGGGACAAGGCCTAGATATTTACTGGAGGGATAATTACACTTGTCCCACTGAAGAAGAATATAAAGCTATGGTGCTGCAGAAAACAGGTGGACTGTTTGGATTAGCAGTAGGTCTCATGCAGTTGTTCTCTGATTACAAAGAAGATTTAAAACCGCTACTTAATACACTTGGGCTCTTTTTCCAAATTAGGGATGATTATGCTAATCTACACTCCAAAGAATATAGTGAAAACAAAAGTTTTTGTGAAGATCTGACAGAGGGAAAGTTCTCATTTCCTACTATTCATGCTATTTGGTCAAGGCCTGAAAGCACCCAGGTGCAGAATATCTTGCGCCAGAGAACAGAAAACATAGATATAAAAAAATACTGTGTACATTATCTTGAGGATGTAGGTTCTTTTGAATACACTCGTAATACCCTTAAAGAGCTTGAAGCTAAAGCCTATAAACAGATTGATGCACGTGGTGGGAACCCTGAGCTAGTAGCCTTAGTAAAACACTTAAGTAAGATGTTCAAAGAAGAAAATGAATAATGTTAAGCCATTCTTGATTGGACCTCATAGCTTATTTTAGTTAATCTTTTTTTTGTCTTTTAGCCTTACCACCTTTTAAAAAATTTGTTATTCTCCAGAAACAGTAAATAGGTGAGTAGGGGTGGTGCAAGTGAATTCGTTTTCATTTAGAAGCCCCTCTGTACAGATAATCAAAATTCAAAGTTGAAAGAATCAAAAGCAGCCACAGTTATGTAGGTCTGATTTGAATGTCATAATTGCAGTGACAGGACATTGCCACCAACTCTATCCTACTACCATCAATGTTGTGTTTATTCCGTCAATAAAAAAGACTTGCTTCCAGGAATTTTTATCCATACACTTTCTAACTGTACTATCTGGGCAGTTCCAAGCCAGTTTCTATTAGCTAGCTGGACCAAAGACCACAAATCTCTTTTTTTCCTAAACGCTGCTGTAAGGAATATCTCACTTTTCCCCCCGGAAACACCCTCACTGAAGTCTTCTATGAAAAGGCTGATAATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCTCTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAGGGCTGATAATGATAAACAGTGAGCACTCCGGTCCTTTTTCTTAGGTTTTCCTTTTTTCCTTCCTCTCCACCCCACAAGTTTTGCTTTTTAACCAAGGTGTCTCTGCTTGATGAAATTCACATGCTAGTCTAAATCTTTTTTTCTCCCTTGTAACATTTATGTGCCCCAAACTGGTTAGTATATGGGTACAGCATTCCCTTTCCAATTGGGAAGCGGAAAAAGAGAGTATGGGATATTTTAGAAGGGAGCCTTTGAACCTTATTATATTTCCCCATCATTGATAGTGACAATCTTAAAAGGGTTGTTTTCTTACCTTAAGTACAAAAGCATGGAAAAATGCGCTTTTCCTTCCCGCCCACATCACCACCCCGACTTGAAGACAGTAGGTGCTTGAATGGAAAGTGAGTAGGCATCTTTAATCGCCCTGATTAAAGGAAAGTGTTAGCCTGAGAGGGCCTGACTGAAAAGTAACCAAAGGCTTAATATCAAACACTAATTAGCTTTTTAGTGCCTTAACCCTGACCTGGTTACCAGTTTTCTGTAGTTTCTACACCCAAGCCACTGAAGTCATCTGTGGCCCAAGAGGTAGGACAAAAAAAAAAAAAAAAAAAGCTGATTTCAATATTTGATTTGTTGACATCCCAAAATGAAAGTTTTATGTTTCCCTTAGAAACATGTTTTGCTTGGTTCTATAGTATGTTACTTAGGATCTATTTACCATATATTTGTATGAGAAATCCTCACCCAAGCATTCAACCTAAATCTTTGAAAAGTTGGGTGCTGTCTTTAGTAACTTTTAAAATAGTTTAAATCTCCCATTTTAATAGTGATAAGGAAACCTGTTAAAATCATGGCTATTGATGTTATAGTATGGAAAGTTGAACTTTATGAACCCATACTTTTAAAAAGCATTTTTAAAAATCTAACACTGACTATAGAAACAAATTAAAATGTCTACCTTTAAGTATAAAAATTGCTTAAGTAGATTTGTTCCTTGCCTATCAAATTAATTTTGGCCTGGTGTTCTTCATTATTCATTTGTTAATTTTATCTTGCCTTTGTCAATAACAGAAATGTTTGTCATTGAATTGGGAATTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCT
GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAGAAAGAAAAAAAGAAGATACTGAAAAATAGATGTCCCTAGTCAAAATAATGAGATTAGCTTTTGACTAAACTCAGGATATTAAAAGGGAATACTTCAGTGCATGATGATCTCATTTTTGAAAGGAAAGAAGCAGAGCTTCCCCATCTCTAAAACCTTAATTCAAAGGAGAAATAGATAATTTCAAGAGGTATTTTTATGAGGTAATAGTAAAATATATTTTATTAACAGTACCTATAGTTATGTAAAATAGGTAGTGCCAATTAACTGACACTAAACTAGCTTCTTGGCCTGGCGCAGTGGCTCACGCCTGTAATCCAAACACTTTGGGAGGCCGATGCGGGTGTATCGCTTGGGCTCAGGAATTCAAGGCCAGCCTGGGCAACATATTAAAACCCCCTTTCTATAAAATATACAAAAATTAGCCAGGCATGGTGTGTGCCTGTAGTCCCAGATACTCAGGAGGCTGAGGCACGAGAATCATGTGAACCCAGGAGGTGGAGTTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAATAATTAATAAATAAACTAGCTTCCTTTTCAAAAAAAGAAATAAATTAGGTCCTAAGTCCTAAAAGCCCATCCTACTTTAAAATTGTTTATTCAAGTTCAGATGAAAAGAGTGGACTAGTAGGCAACTGAAGTGCTTTAGAGTCTCCCGTGCCTGCCCTAATTTTAGAAGGTTGTGCACTTTATGATCCAGATTTCTGAGTGGTTGAGAATGAGTTATTGAGCAGTGCAAGGCAAGCTCTGCAGTAGGTAATGGATTGATGAGGCTGGATTTAGCAAGTCTGATCAATCTAAAGGAAGTTTCTGAATGTGTTTTTTGTAGTTAAAATACTCATAATTAAAACACTTATCACATTGTCACATTTTATTTTTAAATTGCAGGTAAACAAGTGAGAACCAAACTTTCACAGGCATTTAATCATTGGCTGAAAGTTCCAGAGGACAAGCTACAGGTATTAGGCAACTCTAACCTCATTAATCCCCAAGAAATTAATAGCTGTCGCATAAAAATATTCCTAGTTCTTGATTGAATTTAGTCCTCATGCAAGATATTATTTTATATTGAGGTTGCTAAATATTTATTAGTTGTGAAAATTAACACACCTGAGACTTTCATAATCTGTTAATTAAACTGAGTAAGTTTTGAATAGTTCAAATAAGTGAAATTTTCAATTTTTTTATTAGATTATTATTGAAGTGACAGAAATGTTGCATAATGCCAGTTTACTCATCGATGATATTGAAGACAACTCAAAACTCCGACGTGGCTTTCCAGTGGCCCACAGCATCTATGGAATCCCATCTGTCATCAATTCTGCCAATTACGTGTATTTCCTTGGCTTGGAGAAAGTCTTAACCCTTGATCACCCAGATGCAGTGAAGCTTTTTACCCGCCAGCTTTTGGAACTCCATCAGGGACAAGGCCTAGATATTTACTGGAGGGATAATTACACTTGTCCCACTGAAGAAGAATATAAAGCTATGGTGCTGCAGAAAACAGGTGGACTGTTTGGATTAGCAGTAGGTCTCATGCAGTTGTTCTCTGATTACAAAGAAGATTTAAAACCGCTACTTAATACACTTGGGCTCTTTTTCCAAATTAGGGATGATTATGCTAATCTACACTCCAAAGAATATAGTGAAAACAAAAGTTTTTGTGAAGATCTGACAGAGGGAAAGTTCTCATTTCCTACTATTCATGCTATTTGGTCAAGGCCTGAAAGCACCCAGGTGCAGAATATCTTGCGCCAGAGAACAGAAAACATAGATATAAAAAAATACTGTGTACATTATCTTGAGGATGTAGGTTCTTTTGAATACACTCGTAATACCCTTAAAGAGCTTGAAGCTAAAGCCTATAAACAGATTGATGCACGTGGTGGGAACCCTGAGCTAGGAGCCTTAGTAAAACACTTAAGTAAGATGTTCAAAGAAGAAAATGAATAATGTTAAGCCATTCTTGATTGGACCTCATAGCTTATTTTAGTTAATCTTTTTTTTGTCTTTTAGCCTTACCACCTTTTAAAAAATTTGTTATTCTCCAGAAACAGTAAATAGGTGAGTAGGGGTGGTGCAAGTGAATTCGTTTTCATTTAGAAGCCCCTCTGTACAGATAATCAAAATTCAAAGTTGAAAGAATCAAAAGCAGCCACAGTTATGTAGGTCTGATTTGAATGTCATAATTGCAGTGACAGGACATTGCCACCAACTCTATCCTACTACCATCAATGTTGTGTTTATTCCGTCAATAAAAAAGACTTGCTTCCAGGAATTTTTATCCATACACTTTCTAACTGTACTATCTGGGCAGTTCCAAGCCAGTTTCTATTAGCTAGCTGGACCAAAGACCACAAATCTCTTTTTTTCCTAAACGCTGCTGTAAGGAATATCTCACTTTTCCCCCCGGAAACACCCTCACTGAAGTCTTCTATGAAAAGGCTGATAATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCTCTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAGGGCTGATAATGATAAACAGTGAGCACTCCGGTCCTTTTTCTTAGGTTTTCCTTTTTTCCTTCCTCTCCACCCCACAAGTTTTGCTTTTTAACCAAGGTGTCTCTGCTTGATGAAATTCACATGCTAGTCTAAATCTTTTTTTCTCCCTTGTAACATTTATGTGCCCCAAACTGGTTAGTATATGGGTACAGCATTCCCTTTCCAATTGGGAAGCGGAAAAAGAGAGTATGGGATATTTTAGAAGGGAGCCTTTGAACCTTATTATATTTCCCCATCATTGATAGTGACAATCTTAAAAGGGTTGTTTTCTTACCTTAAGTACAAAAGCATGGAAAAATGCGCTTTTCCTTCCCGCCCACATCACCACCCCGACTTGAAGACAGTAGGTGCTTGAATGGAAAGTGAGTAGGCATCTTTAATCGCCCTGATTAAAGGAAAGTGTTAGCCTGAGAGGGCCTGACTGAAAAGTAACCAAAGGCTTAATATCAAACACTAATTAGCTTTTTAGTGCCTTAACCCTGACCTGGTTACCAGTTTTCTGTAGTTTCTACACCCAAGCCACTGAAGTCATCTGTGGCCCAAGAGGTAGGACAAAAAAAAAAAAAAAAAAAGCTGATTTCAATATTTGATTTGTTGACATCCCAAAATGAAAGTTTTATGTTTCCCTTAGAAACATGTTTTGCTTGGTTCTATAGTATGTTACTTAGGATCTATTTACCATATATTTGTATGAGAAATCCTCACCCAAGCATTCAACCTAAATCTTTGAAAAGTTGGGTGCTGTCTTTAGTAACTTTTAAAATAGTTTAAATCTCCCATTTTAATAGTGATAAGGAAACCTGTTAAAATCATGGCTATTGATGTTATAGTATGGAAAGTTGAACTTTATGAACCCATACTTTTAAAAAGCATTTTTAAAAATCTAACACTGACTATAGAAACAAATTAAAATGTCTACCTTTAAGTATAAAAATTGCTTAAGTAGATTTGTTCCTTGCCTATCAAATTAATTTTGGCCTGGTGTTCTTCATTATTCATTTGTTAATTTTATCTTGCCTTTGTCAATAACAGAAATGTTTGTCATTGAATTGGGAATTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCT
Task1_train_2888
This alteration in LYST (lysosomal trafficking regulator) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; CHEDIAK-HIGASHI SYNDROME, ADULT TYPE
TTCAGGGCAGGCATCACTTCCTCTGGGAAATCCCCCTCAGTCTTCATATGCTCTATGCTACCAGAAAACAAAAATGTTGACTGCCTTATCACTGTGCTTTCCACGTGGCATGATATAATCGTTTCTTTATCCTCTTTCCCTCAACTAGGCTGTAAACGTCTTAAGAGAGGGGACCATATTTTACCCATCTTTGTAACTAACCCACTCTCAGAATCTTTATCCACAGTCCTTTTTCCATGAAATGTGCTAAGCCTACCACAAAGTCATGCTATCTAATTTCATTTGGACATTTACTGCTGCTTATTTTATTCATTTACTACATTTCTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGGTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACATTCTCACCTAACTGCAACCACCGCTTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGCCAGGCTAATTTTTTTTTTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGTCAGGCAGGTCTTGAACTCCTGACCTCAGGTAATCTGCCTGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCCCATTTACTACATCTCTTAAAATGGCTATTGTACAACCAGTTTTCCAATGTAAATTTATGACTCAGCTTTCTTGTAGGTACATTCTTGCTTTCTTTCTTACATTACATTTCCCTGGTTCTTAAAAAAAACTGATTATTCCATCTTTCTCTTTTACTGATTCTTCATTCTTGTCCTACCCTCCAACTAGTAATACTACCAGCAGTTCTTTCCTTAGCTTTCTCTTTCCTTCTCTTGCTCTACTTTTCTTCAGTGGTCTCATCTGTTCTCAGAGCTTCACCTCACTTCTATGTGGACAGCTCCTTATAACCTACCCTTCCTTCTTCATGCTGTAACCCTCATTCCCAATTGCCTACTAGAAAATTATATTATAAATAACTGCAGGGCACCTCAAATACAACATATATTATACAACCAAAGCCATTATCCTTTTTCCTTAACACCTCCAGAGTCATTCCATCCTAAACTTCCCACTTCTCAATTTATCCCTCCTTTCCAGTTCCACTGTTACTATGCCCAGATTCTGTTATCCTGTCTCTCACGGACTACTATAATTGGCCTTACTGCCCCTAGTTCCTTATTCCTGAATTCTACTGCAATAATTTACTTATAGCCTTTGCTCAAAACAAACAAATAAAACCCTTTCAATGACCTATAACTAGAATACAAGTTCGAATTCTCTGGCCTTACATTCAAGGACCCATTTGATATGACTTTAGGGTAAAAATAAGTAAATGGTGGTCTTAAACTGTATTTATGGCATTATTTCTCACTATTCCTTTACAGATCCCCTATATATAGGTAAAACTCATTAGTCCTTATTTTCTATTTCCTTTTATCCTCCCTTTAAAGTCATTGTCTTTACCTGGAACACTAACTCTCCAATCTACCTATCAAATTCTACTCAAAATCTTCAATGTCTACATCAGATGTCATGTAACCTATTAAATATTCTCTCCACAGTGGTCGGATGAAACCCTCTGTCCACTGAAATCTCATTAGTTCTTCTTTTGTGTCTCTTTGATACTTACCAAATACACATTTTTTTTTTTTACTGTAGTTATTTGAGTCTATGTCTCCTTTCTCCACTTGGCATTTAGACTCCTTGAGGACAGAGGCCATGTCTAGTTCATTCTATAACTCTCTGCCCTATCCCAACCCCAATATGTAATTAGAGCAGCACAGAGGCCATTCAAATGTCAAACAAATGTGAATCAAGTGGGAAGAATAAAACAAAAGTGGAAATAGCCATGATCTAACAAAAATGATTATACCTACCTATGTGCAAAGAAAAGTAGAAGTTCGTGGGATTGTGACAAACGTAAGTATTAGTAGGAGGGTGAACTGCTAAAAGGAAATTGAAGATAATTGTCAATAATTCCAAATCTGGAGGAGATCCAAGGACTTCTGCTATAATTTTCACAAATGATCTACAAACCTCTCGGGGCATGGGTGTGAGTTGCCCCTCTTTGTATTCCTGAAAAAATAAAAAAAACTCTCTTTAGATTTAAAGAATTGTCAACTTAACTAAGATTTTTCATTTAGGCAAAATATTCTTTTTAAGATAGAATTCTGTTGGTTTACTACTCTAGTCTGATCATACTTACCATTACCATAACAACTCATTAAATTGAGTTATTTCCTAATTCAAGCAATCTTGTTATTAAAAATTCATTAACACAGATGGCAACTTAATTCTAGCCCATGTATCTTAATTAACTGAGGCAAACTTATATAACTCTCACAAGCGTGGTCTCAAAAGCCAGACTTCCTAGGTTTGCATTCTGGTTTCTCCACTCACTAGCCATGTGATCTTAGGTAAGTTACTTAACATCTGCATGCTTCACTTTCTTTGTCTATGTGAGTAATACTAGTGCTACTTTATAGGGTTGTTATAAGGACTAAATAACATAAACTCTTAGAATAGTGCCTTGCATATAGGTAAGCCCCATATAAATGTTAGTGATAAACTACAATCACTACTATTACTACTGCTACTATCTTTTCTTCTCCTTTTACTACTACTACTATTAGTAATATTAGTATAGGATTAGGACAGAAAACTTTTGATGGACAAAACTCGTTATACTAATACAATATGCTCCAGTTTACAAAGCTTTTTTTCACAACAGCTCTATGAGAGGTTTTAGCCCTCATTTCTAGAATATGAGGCACAAAGAGGTTATTTGACTAGTGTAAACCACACATAAAATATGTAGGTAGTACAATTATAACTCAAACTCAGGCCTCTGAACTCTTTCTACTGCACCATTTACTGTCTGGAATAATGAGGCTTGGCAAAATGCCAACTAATTACTAAAAATAAAGCTGTATATAAATAAATTGCTTATATCCTCCAATTCCATCTCCCCAGTGGGTAGCAGCTGGCCTCCAGATTAAGGGTATGGGAGGTAAAATTCCTCATCTTCCCTCTTCATATGTCCAAATATATATCTCTACATCCACTCTTCATTTACTCTTGGGTATTACTGAATTGGAGTACTTAAAATGTAGATGTTAATTTTGAAACAATTTAGTTCGACTACCTCAGATTTAAGAAGGGAACACTGAGTCTACAGAAGAAAACACAAAACTCCTTTGCCAAGTTCTCATAGCTGTCAAGTGGCAAAGACTAAGACAGGAACATAGATCTCCCGACTTCCAATTCAGAACTATTTCTGCTACAACCATCTGCATTTCTTCTAAACCATACTCCATGTATCTTCTTAACTTTCTTGGTTGCAGCATCAGTGATTCATTCCCAAGTCCAGCCCAGGTTACTTCTATCTTGCCCTCTCCACTGACTCTTTATCAATAGTCACTGGTATTCTATTTTATTATTTTTTTAATCCCTTAACTTTACCTTATATGAACATTCTGTTTCTGTCTTTGCTTTTGCTGCTGGACTTTTTAATAATCATTTGTTCTCACTGCCTTCAATGATCTGCCACACATGCTGTCCAAAGTCCCTGAAATCTGGCTCTTGCCTTATCCATGCTATTGAAATCTTGTAAGTCATTAAGAATTTCTGAGTCAATGGCCCTTTATCTGCCTACATTTTCTCTGAACTTTCTATATCATTTGGTTCAAGGTATCATCTTCTTCTCTACATGTTCTTCCCCCTCTGCCGACCTCTGGCTTTCACTTTACTGAGTCTCCTCTTAGCTTTTCAATTACTCTTTCTGTATCTCTTTCAATAGCCCCTTTTTCTGGTTTCACATCCTGAAAATGGGTATCTCCTGAGGTGTAAACCTCAGTCCTCTGATTCTCTCACTACGTTTCTCTGTCTTGGAGTGCTTCTCTATCCTGATGGCTTCACTATTACCAGTTCACTGTTGCTGAATATCCTGCTGTAATTTCAAATGTAGATACAAAAACTACAAAACTTACAAGGTTGCTTTTTTTTCTTATGAAATTATTGTTTTTCTGGTCTCCCGGCTTGAAATTTTAT
TTCAGGGCAGGCATCACTTCCTCTGGGAAATCCCCCTCAGTCTTCATATGCTCTATGCTACCAGAAAACAAAAATGTTGACTGCCTTATCACTGTGCTTTCCACGTGGCATGATATAATCGTTTCTTTATCCTCTTTCCCTCAACTAGGCTGTAAACGTCTTAAGAGAGGGGACCATATTTTACCCATCTTTGTAACTAACCCACTCTCAGAATCTTTATCCACAGTCCTTTTTCCATGAAATGTGCTAAGCCTACCACAAAGTCATGCTATCTAATTTCATTTGGACATTTACTGCTGCTTATTTTATTCATTTACTACATTTCTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGGTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACATTCTCACCTAACTGCAACCACCGCTTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGCCAGGCTAATTTTTTTTTTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGTCAGGCAGGTCTTGAACTCCTGACCTCAGGTAATCTGCCTGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCCCATTTACTACATCTCTTAAAATGGCTATTGTACAACCAGTTTTCCAATGTAAATTTATGACTCAGCTTTCTTGTAGGTACATTCTTGCTTTCTTTCTTACATTACATTTCCCTGGTTCTTAAAAAAAACTGATTATTCCATCTTTCTCTTTTACTGATTCTTCATTCTTGTCCTACCCTCCAACTAGTAATACTACCAGCAGTTCTTTCCTTAGCTTTCTCTTTCCTTCTCTTGCTCTACTTTTCTTCAGTGGTCTCATCTGTTCTCAGAGCTTCACCTCACTTCTATGTGGACAGCTCCTTATAACCTACCCTTCCTTCTTCATGCTGTAACCCTCATTCCCAATTGCCTACTAGAAAATTATATTATAAATAACTGCAGGGCACCTCAAATACAACATATATTATACAACCAAAGCCATTATCCTTTTTCCTTAACACCTCCAGAGTCATTCCATCCTAAACTTCCCACTTCTCAATTTATCCCTCCTTTCCAGTTCCACTGTTACTATGCCCAGATTCTGTTATCCTGTCTCTCACGGACTACTATAATTGGCCTTACTGCCCCTAGTTCCTTATTCCTGAATTCTACTGCAATAATTTACTTATAGCCTTTGCTCAAAACAAACAAATAAAACCCTTTCAATGACCTATAACTAGAATACAAGTTCGAATTCTCTGGCCTTACATTCAAGGACCCATTTGATATGACTTTAGGGTAAAAATAAGTAAATGGTGGTCTTAAACTGTATTTATGGCATTATTTCTCACTATTCCTTTACAGATCCCCTATATATAGGTAAAACTCATTAGTCCTTATTTTCTATTTCCTTTTATCCTCCCTTTAAAGTCATTGTCTTTACCTGGAACACTAACTCTCCAATCTACCTATCAAATTCTACTCAAAATCTTCAATGTCTACATCAGATGTCATGTAACCTATTAAATATTCTCTCCACAGTGGTCGGATGAAACCCTCTGTCCACTGAAATCTCATTAGTTCTTCTTTTGTGTCTCTTTGATACTTACCAAATACACATTTTTTTTTTTTACTGTAGTTATTTGAGTCTATGTCTCCTTTCTCCACTTGGCATTTAGACTCCTTGAGGACAGAGGCCATGTCTAGTTCATTCTATAACTCTCTGCCCTATCCCAACCCCAATATGTAATTAGAGCAGCACAGAGGCCATTCAAATGTCAAACAAATGTGAATCAAGTGGGAAGAATAAAACAAAAGTGGAAATAGCCATGATCTAACAAAAATGATTATACCTACCTATGTGCAAAGAAAAGTAGAAGTTCGTGGGATTGTGACAAACGTAAGTATTAGTAGGAGGGTGAACTGCTAAAAGGAAATTGAAGATAATTGTCAATAATTCCAAATCTGGAGGAGATCCAAGGTCTTCTGCTATAATTTTCACAAATGATCTACAAACCTCTCGGGGCATGGGTGTGAGTTGCCCCTCTTTGTATTCCTGAAAAAATAAAAAAAACTCTCTTTAGATTTAAAGAATTGTCAACTTAACTAAGATTTTTCATTTAGGCAAAATATTCTTTTTAAGATAGAATTCTGTTGGTTTACTACTCTAGTCTGATCATACTTACCATTACCATAACAACTCATTAAATTGAGTTATTTCCTAATTCAAGCAATCTTGTTATTAAAAATTCATTAACACAGATGGCAACTTAATTCTAGCCCATGTATCTTAATTAACTGAGGCAAACTTATATAACTCTCACAAGCGTGGTCTCAAAAGCCAGACTTCCTAGGTTTGCATTCTGGTTTCTCCACTCACTAGCCATGTGATCTTAGGTAAGTTACTTAACATCTGCATGCTTCACTTTCTTTGTCTATGTGAGTAATACTAGTGCTACTTTATAGGGTTGTTATAAGGACTAAATAACATAAACTCTTAGAATAGTGCCTTGCATATAGGTAAGCCCCATATAAATGTTAGTGATAAACTACAATCACTACTATTACTACTGCTACTATCTTTTCTTCTCCTTTTACTACTACTACTATTAGTAATATTAGTATAGGATTAGGACAGAAAACTTTTGATGGACAAAACTCGTTATACTAATACAATATGCTCCAGTTTACAAAGCTTTTTTTCACAACAGCTCTATGAGAGGTTTTAGCCCTCATTTCTAGAATATGAGGCACAAAGAGGTTATTTGACTAGTGTAAACCACACATAAAATATGTAGGTAGTACAATTATAACTCAAACTCAGGCCTCTGAACTCTTTCTACTGCACCATTTACTGTCTGGAATAATGAGGCTTGGCAAAATGCCAACTAATTACTAAAAATAAAGCTGTATATAAATAAATTGCTTATATCCTCCAATTCCATCTCCCCAGTGGGTAGCAGCTGGCCTCCAGATTAAGGGTATGGGAGGTAAAATTCCTCATCTTCCCTCTTCATATGTCCAAATATATATCTCTACATCCACTCTTCATTTACTCTTGGGTATTACTGAATTGGAGTACTTAAAATGTAGATGTTAATTTTGAAACAATTTAGTTCGACTACCTCAGATTTAAGAAGGGAACACTGAGTCTACAGAAGAAAACACAAAACTCCTTTGCCAAGTTCTCATAGCTGTCAAGTGGCAAAGACTAAGACAGGAACATAGATCTCCCGACTTCCAATTCAGAACTATTTCTGCTACAACCATCTGCATTTCTTCTAAACCATACTCCATGTATCTTCTTAACTTTCTTGGTTGCAGCATCAGTGATTCATTCCCAAGTCCAGCCCAGGTTACTTCTATCTTGCCCTCTCCACTGACTCTTTATCAATAGTCACTGGTATTCTATTTTATTATTTTTTTAATCCCTTAACTTTACCTTATATGAACATTCTGTTTCTGTCTTTGCTTTTGCTGCTGGACTTTTTAATAATCATTTGTTCTCACTGCCTTCAATGATCTGCCACACATGCTGTCCAAAGTCCCTGAAATCTGGCTCTTGCCTTATCCATGCTATTGAAATCTTGTAAGTCATTAAGAATTTCTGAGTCAATGGCCCTTTATCTGCCTACATTTTCTCTGAACTTTCTATATCATTTGGTTCAAGGTATCATCTTCTTCTCTACATGTTCTTCCCCCTCTGCCGACCTCTGGCTTTCACTTTACTGAGTCTCCTCTTAGCTTTTCAATTACTCTTTCTGTATCTCTTTCAATAGCCCCTTTTTCTGGTTTCACATCCTGAAAATGGGTATCTCCTGAGGTGTAAACCTCAGTCCTCTGATTCTCTCACTACGTTTCTCTGTCTTGGAGTGCTTCTCTATCCTGATGGCTTCACTATTACCAGTTCACTGTTGCTGAATATCCTGCTGTAATTTCAAATGTAGATACAAAAACTACAAAACTTACAAGGTTGCTTTTTTTTCTTATGAAATTATTGTTTTTCTGGTCTCCCGGCTTGAAATTTTAT
Task1_train_2889
The gene EDARADD (EDAR associated via death domain) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
CCCAGCAGCCCTCTGTTTCTGTGCTGGACACAGGGCACAGGTCTCTTTGCTGGTGCTGGGCCGCGGTCCCCGGGGGTTAGGCTGCTCTGTGCTGTCTCTGATGCAGTCTTGCCACCTTCATGCTCTGCAGATGTCTGTATCCTGCTCCATGGGAGGCAATGGCAAAGGCTCTCTCCATTCGTCCCCATTTCTCTTCAGTGACTGGAGGCTGCATAAAACAAAGAGATGTTGCCTTCTCGAAACTTCTTTGGGCATTATCAACACCTGCAGGGCAAAGAAACTGTGGAAAGTTCAGACACATTCTCAGCTGGGAAACACCTAGGAAGAACACACACAAATTATTATCTTGACAAATTGTCCTGCTGTGCTTATTTGGATCCCCAAAGGCATTCCCAGGACCTAATTCCTAGTCTGCAATATGTACTTAATGAGGATTTGGATCAAAAGTGAATGCTGACTCTTGGCGGACCCACGACTGCCACTTAGGGTACTGCAGGTCGTTCACTGCACAAATCTGGAGGATCCCACGCAAAAAGATTTGATTATTTACTGAGACAGCTCTCTGGCAGATGTCTTATAAAGCATTTTGGAGATGGGAAACTTTTCTAATTTGTACTAATTAGGTCCTGACTGAGGTCTGTGCCTTTTTCCGTATTTCCCCTTTAAATTCCTTCAATGCATCAAGTGATAAAGTATCAGAAACAAAATATTGAGAAATCAAGATTATTTTTGATAAAAAACTATGGTTTTTTCTTTATTAGTCCACATAAACAACATTCAGAAGATTAAGAAAAATGAGTTGCAGCAAAATAGGAAATCAGGAAAGAAGTAGATTCAGAATGGAGTCATTCCTGCCGAAGGTAGTGTCAAATTCAGTAGGCAAGAGAGTCATTAATGTGATGCCTGCATAGTTTGTGGTTGTTTGTAACTCTGGGTATTTGAAGATATTTATAGGTAACCTGTTCCAAAATATGGTGGGGTTTTTTATGTAGTTACTTTTTATATTTTTAATTAATTAATTTATTTTTTTGAGATGGAGTTTTGCTCTGTCACCCAGGCTGGAGGGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCTATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCACCACTATGCGAGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCTATGTTGGACCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCTGGCCTATAGTTTCTTTTTATTAATCTATTTCTTGATGCAATCTGAATCTGTTCCTCTTTATTTTGTCTCAACTAATAATTGGAAGTAAGACTTTCAGGCCAGGTGCGGTGTCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGGCCGGAAGCTCAAGGTTGTAGTGAGCTATGATTGTGCCACTGAGTGTACTCCAGCCTGGGCTACAGAGCAAACCCTATTTCTTTTTTCTTTCTTTCTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCACTGTGTTGGCTCACTGCAACCTCCGACTCCTGGGCTCAAGCGATTCTCCTCCCTCAGCCTCCTGGGTAGCTGGGATTACAGGCGCCCACCTAATTTTTATTTTTATTTTATTTTATTTTTTAGTAGAGACAGGGTTTTACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGCATGAGCTACCTCACCCAGCCAATCCTATTTCTTAAAAAAAAAAAAAAAAAAAGGAGTAAGGTTTTCTTCAGCCTAAGTAAAATTACTTGCCTCTGTATAGAGACAGTTATCAAAGGACTCATTTGTGGTTTTAAATTAAAGCAAACCCGCTCTATTTGTTTGTTTTTGTTCTTTTTACAGATCATATGGTAAAGGAACCAGTGGAAGACACAGACCCTAGCACTTTATCCTTTAATATGGTAGGTGACAAATTTTACACTAATGGTGATAATTATTGTTTTGCTTTTTTTCTTTGTTATTTCTTTACGTTTTTATTACTCAGTATTTACATGTGCATCAGAAACCCCAAAGTAAGATTTTTCTAAGATAACTGCTTTATCTTGGTATTCTACGTGATAATAATAAACTTTGGGTTTCTCCAGGCTAAAAATGGCGTTAGATTCTTTTCTTCTTTTGCTCATGTTGGAGGTGATATTACATTATGTGAGGGCTTTACCCACTTCCCTGGTTTTTTTTTATTTCATTTTTCATTTTTATTTTTTTTTAGACGGAGTCTTGCTCTCTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTTTTTTTTTTGGTAGAGTGGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAGGTGATCTGCCACCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGTACCTGGCCTACTTGCCTGTTTTTAATACTACTGGTCTGGTAATGGAGCAGCCTGGGATGCCAGATGGACACACGCTATTGGATTTACCTCAGTTACAGCGTTTAGTTCTAGCAGCTGCCTTCTGAGCCACATCCTCTCCCCACCCTCCCGTAACCATTCTGAGGCTATTGCTTTAAGGGTATCCAAAGATTTCACATATATTGGTTTTTTAAAATTCATTTTATGGTTTTATTATTATTATCATTTTAATTTCAGATTCCATGGGTACGTATGCAGCTTTGTTACGTGGATGCATAGCATAATGGTTAGGTTTGGGCTTCTCATAAATCCATCACCCACATAGTGAACGCTGTACCTAATAGGTAATTTTTCAACCCTGAGCCCTCCTCCCACCCTCCCCCCTTTTGGAGTCCCTAGTGTCTGTTATTTCCATCTTTATGTCCATGGGTACCCATTCTTTAGCTCCCACTTATAAGTGAGAACATGCAGTATTTGATTTTCTGTTTCTGAGTTATTTCACTTGGGATGATGGCTTCCAGCTGCATCCATGTGGCTGCAAAGGAGAGAATTGTGTTCTTTTTTATGGCTGCCATCATTATTTTTCAACCTCCCAAGATCCTCCCAACCATCCCTTGAGATGGTGGGGCACGTACCCCCATCCTACAGATGCAGAAAGGACAGTTAATGGAAGTGTGCCGCCACCTAGACCGGAGCCCTGTGCTCCTGCCCAGCACTGCTTCTTGCTGAGGGCCAAAGCGGTGCTCTCTGTCAGGCAGCGTGTGTGATGGGCATATTGTGTAGGACACATTCCTTCTGTTCCAGATCCTCAGAGGATGGGATCTACCAACTCATGAAAAGTTTTGGTTAACTGATTTAGTTACAGCGACACAGAATACACTTCATGTAATTCAACTAAATGTCTTTAAATCTTAGGTGTCTTGCGGACCTGAGGTGTTTGTTTTCCTGTCCTTTAATTACCCCTGGCTTGGTAAATTGTAGACAGCGTAGGGGGTCAAGCTTTGATACCCACTGGAAATTCCTATGAAAAATTCTCAGTCTCTTCACTCTGATCAAAATGGAACGAAGAACAACCCTGTGGCCATGGCTTATATGTCTCTGGAGTAGCTTGTTACTAAAGCCTTTGGTTTCTATAAAGTGTTATTCAGTTTGCCTTCTTTCCCTTCCCACTGCCCCCACCTGTGACTCTCCAGTTCTCCCTGGTATCCTGCTTACTTCCTGATACCAGGTTTTCTTTCCCTCCCTTGGAGCTATGTCCTTATGCTCACCTTGGGGCTCAGCTACCTCTAATTACTTCTCCATGCTGGGGACAAAGTGATCTTTCCAAAGTGTCCCTCTTACTAGTTTCTTAGGGCTGTCGCAACAGAATACCACAGACTGGGCAGCTTTCACAATAGAAATGTATTTGCTCCT
CCCAGCAGCCCTCTGTTTCTGTGCTGGACACAGGGCACAGGTCTCTTTGCTGGTGCTGGGCCGCGGTCCCCGGGGGTTAGGCTGCTCTGTGCTGTCTCTGATGCAGTCTTGCCACCTTCATGCTCTGCAGATGTCTGTATCCTGCTCCATGGGAGGCAATGGCAAAGGCTCTCTCCATTCGTCCCCATTTCTCTTCAGTGACTGGAGGCTGCATAAAACAAAGAGATGTTGCCTTCTCGAAACTTCTTTGGGCATTATCAACACCTGCAGGGCAAAGAAACTGTGGAAAGTTCAGACACATTCTCAGCTGGGAAACACCTAGGAAGAACACACACAAATTATTATCTTGACAAATTGTCCTGCTGTGCTTATTTGGATCCCCAAAGGCATTCCCAGGACCTAATTCCTAGTCTGCAATATGTACTTAATGAGGATTTGGATCAAAAGTGAATGCTGACTCTTGGCGGACCCACGACTGCCACTTAGGGTACTGCAGGTCGTTCACTGCACAAATCTGGAGGATCCCACGCAAAAAGATTTGATTATTTACTGAGACAGCTCTCTGGCAGATGTCTTATAAAGCATTTTGGAGATGGGAAACTTTTCTAATTTGTACTAATTAGGTCCTGACTGAGGTCTGTGCCTTTTTCCGTATTTCCCCTTTAAATTCCTTCAATGCATCAAGTGATAAAGTATCAGAAACAAAATATTGAGAAATCAAGATTATTTTTGATAAAAAACTATGGTTTTTTCTTTATTAGTCCACATAAACAACATTCAGAAGATTAAGAAAAATGAGTTGCAGCAAAATAGGAAATCAGGAAAGAAGTAGATTCAGAATGGAGTCATTCCTGCCGAAGGTAGTGTCAAATTCAGTAGGCAAGAGAGTCATTAATGTGATGCCTGCATAGTTTGTGGTTGTTTGTAACTCTGGGTATTTGAAGATATTTATAGGTAACCTGTTCCAAAATATGGTGGGGTTTTTTATGTAGTTACTTTTTATATTTTTAATTAATTAATTTATTTTTTTGAGATGGAGTTTTGCTCTGTCACCCAGGCTGGAGGGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCTATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCACCACTATGCGAGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCTATGTTGGACCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCTGGCCTATAGTTTCTTTTTATTAATCTATTTCTTGATGCAATCTGAATCTGTTCCTCTTTATTTTGTCTCAACTAATAATTGGAAGTAAGACTTTCAGGCCAGGTGCGGTGTCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGGCCGGAAGCTCAAGGTTGTAGTGAGCTATGATTGTGCCACTGAGTGTACTCCAGCCTGGGCTACAGAGCAAACCCTATTTCTTTTTTCTTTCTTTCTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCACTGTGTTGGCTCACTGCAACCTCCGACTCCTGGGCTCAAGCGATTCTCCTCCCTCAGCCTCCTGGGTAGCTGGGATTACAGGCGCCCACCTAATTTTTATTTTTATTTTATTTTATTTTTTAGTAGAGACAGGGTTTTACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGCATGAGCTACCTCACCCAGCCAATCCTATTTCTTAAAAAAAAAAAAAAAAAAAGGAGTAAGGTTTTCTTCAGCCTAAGTAAAATTACTTGCCTCTGTATAGAGACAGTTATCAAAGGACTCATTTGTGGTTTTAAATTAAAGCAAACCCGCTCTATTTGTTTGTTTTTGTTCTTTTTACAGATCATATGGTAAAGGAACCAGTGAAAGACACAGACCCTAGCACTTTATCCTTTAATATGGTAGGTGACAAATTTTACACTAATGGTGATAATTATTGTTTTGCTTTTTTTCTTTGTTATTTCTTTACGTTTTTATTACTCAGTATTTACATGTGCATCAGAAACCCCAAAGTAAGATTTTTCTAAGATAACTGCTTTATCTTGGTATTCTACGTGATAATAATAAACTTTGGGTTTCTCCAGGCTAAAAATGGCGTTAGATTCTTTTCTTCTTTTGCTCATGTTGGAGGTGATATTACATTATGTGAGGGCTTTACCCACTTCCCTGGTTTTTTTTTATTTCATTTTTCATTTTTATTTTTTTTTAGACGGAGTCTTGCTCTCTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTTTTTTTTTTGGTAGAGTGGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAGGTGATCTGCCACCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGTACCTGGCCTACTTGCCTGTTTTTAATACTACTGGTCTGGTAATGGAGCAGCCTGGGATGCCAGATGGACACACGCTATTGGATTTACCTCAGTTACAGCGTTTAGTTCTAGCAGCTGCCTTCTGAGCCACATCCTCTCCCCACCCTCCCGTAACCATTCTGAGGCTATTGCTTTAAGGGTATCCAAAGATTTCACATATATTGGTTTTTTAAAATTCATTTTATGGTTTTATTATTATTATCATTTTAATTTCAGATTCCATGGGTACGTATGCAGCTTTGTTACGTGGATGCATAGCATAATGGTTAGGTTTGGGCTTCTCATAAATCCATCACCCACATAGTGAACGCTGTACCTAATAGGTAATTTTTCAACCCTGAGCCCTCCTCCCACCCTCCCCCCTTTTGGAGTCCCTAGTGTCTGTTATTTCCATCTTTATGTCCATGGGTACCCATTCTTTAGCTCCCACTTATAAGTGAGAACATGCAGTATTTGATTTTCTGTTTCTGAGTTATTTCACTTGGGATGATGGCTTCCAGCTGCATCCATGTGGCTGCAAAGGAGAGAATTGTGTTCTTTTTTATGGCTGCCATCATTATTTTTCAACCTCCCAAGATCCTCCCAACCATCCCTTGAGATGGTGGGGCACGTACCCCCATCCTACAGATGCAGAAAGGACAGTTAATGGAAGTGTGCCGCCACCTAGACCGGAGCCCTGTGCTCCTGCCCAGCACTGCTTCTTGCTGAGGGCCAAAGCGGTGCTCTCTGTCAGGCAGCGTGTGTGATGGGCATATTGTGTAGGACACATTCCTTCTGTTCCAGATCCTCAGAGGATGGGATCTACCAACTCATGAAAAGTTTTGGTTAACTGATTTAGTTACAGCGACACAGAATACACTTCATGTAATTCAACTAAATGTCTTTAAATCTTAGGTGTCTTGCGGACCTGAGGTGTTTGTTTTCCTGTCCTTTAATTACCCCTGGCTTGGTAAATTGTAGACAGCGTAGGGGGTCAAGCTTTGATACCCACTGGAAATTCCTATGAAAAATTCTCAGTCTCTTCACTCTGATCAAAATGGAACGAAGAACAACCCTGTGGCCATGGCTTATATGTCTCTGGAGTAGCTTGTTACTAAAGCCTTTGGTTTCTATAAAGTGTTATTCAGTTTGCCTTCTTTCCCTTCCCACTGCCCCCACCTGTGACTCTCCAGTTCTCCCTGGTATCCTGCTTACTTCCTGATACCAGGTTTTCTTTCCCTCCCTTGGAGCTATGTCCTTATGCTCACCTTGGGGCTCAGCTACCTCTAATTACTTCTCCATGCTGGGGACAAAGTGATCTTTCCAAAGTGTCCCTCTTACTAGTTTCTTAGGGCTGTCGCAACAGAATACCACAGACTGGGCAGCTTTCACAATAGAAATGTATTTGCTCCT
Task1_train_2890
This is a variant in EDARADD (EDAR associated via death domain), located on Chromosome 1. Is this mutation a likely cause of disease or not?
Pathogenic; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
ACTGTAGACATTTTGGTTGTTTTTGAAACTTAATAATGTAAATAACACCGTGATAACAATGTTTATGTAAATTCATATTTTGGATTATCTCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGC
ACTGTAGACATTTTGGTTGTTTTTGAAACTTAATAATGTAAATAACACCGTGATAACAATGTTTATGTAAATTCATATTTTGGATTATCTCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACGAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGC
Task1_train_2891
Gene EDARADD (EDAR associated via death domain) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
TGTAGACATTTTGGTTGTTTTTGAAACTTAATAATGTAAATAACACCGTGATAACAATGTTTATGTAAATTCATATTTTGGATTATCTCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTG
TGTAGACATTTTGGTTGTTTTTGAAACTTAATAATGTAAATAACACCGTGATAACAATGTTTATGTAAATTCATATTTTGGATTATCTCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAAACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTG
Task1_train_2892
A mutation in EDARADD (EDAR associated via death domain), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
TGTAGACATTTTGGTTGTTTTTGAAACTTAATAATGTAAATAACACCGTGATAACAATGTTTATGTAAATTCATATTTTGGATTATCTCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTG
TGTAGACATTTTGGTTGTTTTTGAAACTTAATAATGTAAATAACACCGTGATAACAATGTTTATGTAAATTCATATTTTGGATTATCTCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAAACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTG
Task1_train_2893
This variant affects gene EDARADD (EDAR associated via death domain) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
TCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTGGGCAGCAAGGCTAAGTTTGCCGGCAGGAACTTCAGAAACCCCCCAGCCAAGTAAGCTGTGGGCAGGCAAGCCCTTCAGTCACCTGGT
TCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACAAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTGGGCAGCAAGGCTAAGTTTGCCGGCAGGAACTTCAGAAACCCCCCAGCCAAGTAAGCTGTGGGCAGGCAAGCCCTTCAGTCACCTGGT
Task1_train_2894
Given a variant located on Chromosome 1 and affecting EDARADD (EDAR associated via death domain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
CCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTGGGCAGCAAGGCTAAGTTTGCCGGCAGGAACTTCAGAAACCCCCCAGCCAAGTAAGCTGTGGGCAGGCAAGCCCTTCAGTCACCTGGTGGCTAATTAGACCCC
CCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGAAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTGGGCAGCAAGGCTAAGTTTGCCGGCAGGAACTTCAGAAACCCCCCAGCCAAGTAAGCTGTGGGCAGGCAAGCCCTTCAGTCACCTGGTGGCTAATTAGACCCC
Task1_train_2895
A change on Chromosome 1 affects gene EDARADD (EDAR associated via death domain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
CCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTGGGCAGCAAGGCTAAGTTTGCCGGCAGGAACTTCAGAAACCCCCCAGCCAAGTAAGCTGTGGGCAGGCAAGCCCTTCAGTCACCTGGTGGCTAATTAGACCCCTCCCCTTGTGTCAACTCCGGCAGCTCAAGACCCCCGAGCAACATTTGTAGGGGCCGCTGCTAGTTAGCTACCCTTGCCCACCGCCGTGGAGTTCGCACCTC
CCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGAAGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTGGGCAGCAAGGCTAAGTTTGCCGGCAGGAACTTCAGAAACCCCCCAGCCAAGTAAGCTGTGGGCAGGCAAGCCCTTCAGTCACCTGGTGGCTAATTAGACCCCTCCCCTTGTGTCAACTCCGGCAGCTCAAGACCCCCGAGCAACATTTGTAGGGGCCGCTGCTAGTTAGCTACCCTTGCCCACCGCCGTGGAGTTCGCACCTC
Task1_train_2896
A change on Chromosome 1 affects gene ACTN2 (actinin alpha 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Primary dilated cardiomyopathy
TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAATTAGCTAGGTGTGGTCGTGCATGCCTATAGTCCCAGCTACTTAGGGGGCTGAGGCAGGAGGATCAGTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCACACCACTGTTCTCCAGCCTGGGTGACAGAGCTGGATGACCCTGTCTCCAAAACAAAACAAAACACTGTTATTTATTCATCTATTCTGCTGCAAGCAAGCATATTTTGCATATTTGTGAGCAAGAAATAAGCACATCTTAATTTAATCTATCTTTTCTACAAAGTAAAAGGGTTTCAAAAGGTGAAGATACAGGTATAAATGTGGTGTCTTTTTAAATGGAAGGCAAAAATTCTTCAGGTTGGAATATCCAATAAGAGAGTCTTTATCTCTAAAGTGGAAAATTTACTAAAATCGTTCTTTTGGGTTTCCAGTTCTTCTTTCCATCAAATTCTGCATCCTCTAGAAGCCCAAGCAGCCCCAGCCTTGTAGATTCCCAAGAACGTGTAAGGTGTCAAGTGTCGTCTGTGAGGAAGGGATCTGAAATCCGATGGACCTGTGCTAAACCGTGTTTGGTTTTCTTTGCAGACCTTCACTGCCTGGTGTAACTCCCACCTAAGGAAAGCCGGCACCCAGATTGAGAACATCGAGGAAGACTTCAGGAATGGCCTTAAGCTCATGCTGCTTTTGGAAGTCATCTCAGGTTGGTGTTATATATCCCATCCTATGCTTTCATGTGTTATCAGTAGGTGAGCATCTATTTAAAGATGACTACATCAGAAGTTCGCTTTGAACTTGGCTGGGCAAGAACATGGTATTATTGCCAAAGAAAACCTTTCCAAAGAACAATCTGCCTGGAGTTATTTTTCCGTTCTAAAAAAAGGAGTGAATTCTCTTTAAAAATCACTTATTAAAATAATGTTTATACCACCAAGCTTGAAACAAAATAAGAGAAGAAAAAATGACTTCACACGACTCCCTCCATGCTGCCCTTTCTACTCTTCGTCCAGCTAGAGTGTATTCCAGAAATCATCTTGTATCCAAAAATCTACTGTACATGTTGGCAGAACTCTGAACATATAAGCTAAAATCCCAGTGGGGCTATGATTTGTCCTGAATTTCAGTTGGCTGATTTAGACTTTGGACTAGAGAATGGATCACCTTTGGAGAAGTGTGACTGGGAAGGATTATGGCAGATCTGCCCTGATCCATCTGTCTTCATAATCAGGTGTCGAACGAGCCCTGGCAGCCACCTCTGTGATTTTAACTGGCCATCCTGACTTCCTCTAACCGTTAGCCAGCAACTCTGAATACTCCAGGGACTCTAACCAGCTTCTCTTTTTACTCATTTGTAAGTTGGATCATGGGCCAAACCAGACTCTCCCTGCAGATCTGAAAAGCATGTGTCCTTCATAGTATGGCTCCCTGCTGGTCCATTTGATTCTGAAAGTTTCTGGGTTAGTGTTCCCTCATTGCTGTGATTTAGAGAGACCAGGCACACATCAGAAATAGTCATGTAACCTTCTCTTTTTAAGGAAAAGATGGATGCTTAGTTTTGGCATCTTGATTCCGCATCAAGAGGTCACTGTCTCTATGTCTGCATGATTCTCTTTTCATCCAACAGGGGAAAGGCTGCCCAAACCTGACCGGGGAAAAATGCGGTTCCACAAAATTGCTAATGTCAACAAAGCTTTGGATTACATAGCCAGCAAAGGGGTGAAACTGGTGTCCATTGGCGCTGAAGGTGAGAGGTGTGGTGGGTGGTCCTGTCTGCCACACTGACCTAATAGCGTAGGTGTGGGCTGCGACTTGAATTCTCCCCTTCTTCCCTCCCTTTCACCATTTACTGTACCTGCCTTGTATCAGGCTCTCTCTTAGGGCGCTCGGTGCACAAAGATAAGAACAAATGGTACCATGAGTGGGAGACCAAGCTCTAGGTTCTTTGTAAAGCATAGAATTAAATATAATGCTGTCATCTTCAGAAGACTTAAAGGACTGAGAAAGAACTTACACATCCCAATGACTCTTAATAAGAACTAACTAATAGGAAGGAAGTGGCCTCTTTGTTCTCTATGGGAGACTGGGAATTTGGTGAGGTCAGCGGGAGCTGAGATTTCCACCCATATCTCTGTATGCACAACTGAGTCCTGCTACTTGTCAGCTGCGGAATGCCGTAAGAAGGGTCAGGGTAAAGATGAGACTGTGTTCTCTTTATTTGATTATTTAAAACTTTAGCTCATGGCTGGGCACAGTGGCTCATGCTCATCCCAGCACTTTGAGAGGCTGAGGCGGGTAGATCACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAATTTACAAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCTTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGATCCCAGGAGGCGGAGGTTGCAGTGAGCCACGGTTGTGTCACTGCACTGCGGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAACCTTAGCTATTACATCTTAAAACTTTGGAAACTCCCGGGTGGTTTTCACTGATAATACATATGCAAGATTTGTGCTTATTATTAACTTAGAATTTATTTAAACTAGAGACATTTGGTTATGAATACTGTATTTATAACCAGACATACTGCGGTGCTTATAAAAACATAAACTGGTCTTTCCATCCATATGCACATTTTCCAATAGCTCTGAAGTCAACATTTATATATAGGAAAAAAGTTACGTACAGACTATGTTATCTTTACATTAATTTGTTGTTTTCTTACCTGCAGAAATTGTTGATGGCAACGTGAAAATGACCCTGGGTATGATCTGGACCATCATCCTTCGCTTTGCTATTCAGGATATTTCGGTTGAAGGTAAAAGACATGGTTAAAAGTCTAATTGTATAATCTGTAAATTGAGCTTGTGAATTAAAATTTGAGCAAGATGTTTTAAAGTCCAACAGTCACTTACATGATTGAATGAGAGACATGTAAGTGGGTTCTTATAAATTTTGTATGTGTATAGGAAAAGACCTCGGCAGCACTGTTTCATTCATGGGGGTGGAATCGGTTTGCAAAAGATGAGCACATGTTCAGAACAGAAGTCGCTTTTTAAAATGAGCATTTATTGAGCTTCTTGATTGCTTATTATACTAGTAAATTTACAGCTATGGCAGAGTTCTTTAGTCTTACAACTGAAACACTTTCTTTCCCCCTGGTATAAAAAAAGAATCTGTTGCAACCCATGTTTGTTATTTCCTTAACTTTCTTCCTCCCTATCTCTCTCCCTCTCTTTTTCTTTTTTCTTCTTTTTCTTTTTAAACAAGACCTCTATTGTCACTGTATCTTTTGGCCTAACTACTGTTTCATCATTATCATAGAATCTTAATCCTTGACACTGCCACTGAAGATAAAAATCTTTAGTCTTTTACACCAACTACACTCCCAAATATTTTGATGAATTCAGCACTGTTGAAAAGTGTCAAATTGGCATTCTTAAAATTGGAACTTTGCCTGTTTGGCCCTCAAATCACAAAGTGTATAACTGCAGAATGTGTTTCAGGGCTGCTGCATTGTCCAACTATTTGGCCCCTTCTGACTCTGTAATCCAGTAGGTAACCAGGTACCTGAGTGGTAAGGGGTGGAGACGTTATTTATAATTCTGCCCAGGCCACAGTAGCCTCTGACTCTGGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG
TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAATTAGCTAGGTGTGGTCGTGCATGCCTATAGTCCCAGCTACTTAGGGGGCTGAGGCAGGAGGATCAGTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCACACCACTGTTCTCCAGCCTGGGTGACAGAGCTGGATGACCCTGTCTCCAAAACAAAACAAAACACTGTTATTTATTCATCTATTCTGCTGCAAGCAAGCATATTTTGCATATTTGTGAGCAAGAAATAAGCACATCTTAATTTAATCTATCTTTTCTACAAAGTAAAAGGGTTTCAAAAGGTGAAGATACAGGTATAAATGTGGTGTCTTTTTAAATGGAAGGCAAAAATTCTTCAGGTTGGAATATCCAATAAGAGAGTCTTTATCTCTAAAGTGGAAAATTTACTAAAATCGTTCTTTTGGGTTTCCAGTTCTTCTTTCCATCAAATTCTGCATCCTCTAGAAGCCCAAGCAGCCCCAGCCTTGTAGATTCCCAAGAACGTGTAAGGTGTCAAGTGTCGTCTGTGAGGAAGGGATCTGAAATCCGATGGACCTGTGCTAAACCGTGTTTGGTTTTCTTTGCAGACCTTCACTGCCTGGTGTAACTCCCACCTAAGGAAAGCCGGCACCCAGATTGAGAACATCGAGGAAGACTTCAGGAATGGCCTTAAGCTCATGCTGCTTTTGGAAGTCATCTCAGGTTGGTGTTATATATCCCATCCTATGCTTTCATGTGTTATCAGTAGGTGAGCATCTATTTAAAGATGACTACATCAGAAGTTCGCTTTGAACTTGGCTGGGCAAGAACATGGTATTATTGCCAAAGAAAACCTTTCCAAAGAACAATCTGCCTGGAGTTATTTTTCCGTTCTAAAAAAAGGAGTGAATTCTCTTTAAAAATCACTTATTAAAATAATGTTTATACCACCAAGCTTGAAACAAAATAAGAGAAGAAAAAATGACTTCACACGACTCCCTCCATGCTGCCCTTTCTACTCTTCGTCCAGCTAGAGTGTATTCCAGAAATCATCTTGTATCCAAAAATCTACTGTACATGTTGGCAGAACTCTGAACATATAAGCTAAAATCCCAGTGGGGCTATGATTTGTCCTGAATTTCAGTTGGCTGATTTAGACTTTGGACTAGAGAATGGATCACCTTTGGAGAAGTGTGACTGGGAAGGATTATGGCAGATCTGCCCTGATCCATCTGTCTTCATAATCAGGTGTCGAACGAGCCCTGGCAGCCACCTCTGTGATTTTAACTGGCCATCCTGACTTCCTCTAACCGTTAGCCAGCAACTCTGAATACTCCAGGGACTCTAACCAGCTTCTCTTTTTACTCATTTGTAAGTTGGATCATGGGCCAAACCAGACTCTCCCTGCAGATCTGAAAAGCATGTGTCCTTCATAGTATGGCTCCCTGCTGGTCCATTTGATTCTGAAAGTTTCTGGGTTAGTGTTCCCTCATTGCTGTGATTTAGAGAGACCAGGCACACATCAGAAATAGTCATGTAACCTTCTCTTTTTAAGGAAAAGATGGATGCTTAGTTTTGGCATCTTGATTCCGCATCAAGAGGTCACTGTCTCTATGTCTGCATGATTCTCTTTTCATCCAACAGGGGAAAGGCTGCCCAAACCTGACCGGGGAAAAATGCGGTTCCACAAAATTGCTAATGTCAACAAAGCTTTGGATTACATAGCCAGCAAAGGGGTGAAACTGGTGTCCATTGGCACTGAAGGTGAGAGGTGTGGTGGGTGGTCCTGTCTGCCACACTGACCTAATAGCGTAGGTGTGGGCTGCGACTTGAATTCTCCCCTTCTTCCCTCCCTTTCACCATTTACTGTACCTGCCTTGTATCAGGCTCTCTCTTAGGGCGCTCGGTGCACAAAGATAAGAACAAATGGTACCATGAGTGGGAGACCAAGCTCTAGGTTCTTTGTAAAGCATAGAATTAAATATAATGCTGTCATCTTCAGAAGACTTAAAGGACTGAGAAAGAACTTACACATCCCAATGACTCTTAATAAGAACTAACTAATAGGAAGGAAGTGGCCTCTTTGTTCTCTATGGGAGACTGGGAATTTGGTGAGGTCAGCGGGAGCTGAGATTTCCACCCATATCTCTGTATGCACAACTGAGTCCTGCTACTTGTCAGCTGCGGAATGCCGTAAGAAGGGTCAGGGTAAAGATGAGACTGTGTTCTCTTTATTTGATTATTTAAAACTTTAGCTCATGGCTGGGCACAGTGGCTCATGCTCATCCCAGCACTTTGAGAGGCTGAGGCGGGTAGATCACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAATTTACAAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCTTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGATCCCAGGAGGCGGAGGTTGCAGTGAGCCACGGTTGTGTCACTGCACTGCGGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAACCTTAGCTATTACATCTTAAAACTTTGGAAACTCCCGGGTGGTTTTCACTGATAATACATATGCAAGATTTGTGCTTATTATTAACTTAGAATTTATTTAAACTAGAGACATTTGGTTATGAATACTGTATTTATAACCAGACATACTGCGGTGCTTATAAAAACATAAACTGGTCTTTCCATCCATATGCACATTTTCCAATAGCTCTGAAGTCAACATTTATATATAGGAAAAAAGTTACGTACAGACTATGTTATCTTTACATTAATTTGTTGTTTTCTTACCTGCAGAAATTGTTGATGGCAACGTGAAAATGACCCTGGGTATGATCTGGACCATCATCCTTCGCTTTGCTATTCAGGATATTTCGGTTGAAGGTAAAAGACATGGTTAAAAGTCTAATTGTATAATCTGTAAATTGAGCTTGTGAATTAAAATTTGAGCAAGATGTTTTAAAGTCCAACAGTCACTTACATGATTGAATGAGAGACATGTAAGTGGGTTCTTATAAATTTTGTATGTGTATAGGAAAAGACCTCGGCAGCACTGTTTCATTCATGGGGGTGGAATCGGTTTGCAAAAGATGAGCACATGTTCAGAACAGAAGTCGCTTTTTAAAATGAGCATTTATTGAGCTTCTTGATTGCTTATTATACTAGTAAATTTACAGCTATGGCAGAGTTCTTTAGTCTTACAACTGAAACACTTTCTTTCCCCCTGGTATAAAAAAAGAATCTGTTGCAACCCATGTTTGTTATTTCCTTAACTTTCTTCCTCCCTATCTCTCTCCCTCTCTTTTTCTTTTTTCTTCTTTTTCTTTTTAAACAAGACCTCTATTGTCACTGTATCTTTTGGCCTAACTACTGTTTCATCATTATCATAGAATCTTAATCCTTGACACTGCCACTGAAGATAAAAATCTTTAGTCTTTTACACCAACTACACTCCCAAATATTTTGATGAATTCAGCACTGTTGAAAAGTGTCAAATTGGCATTCTTAAAATTGGAACTTTGCCTGTTTGGCCCTCAAATCACAAAGTGTATAACTGCAGAATGTGTTTCAGGGCTGCTGCATTGTCCAACTATTTGGCCCCTTCTGACTCTGTAATCCAGTAGGTAACCAGGTACCTGAGTGGTAAGGGGTGGAGACGTTATTTATAATTCTGCCCAGGCCACAGTAGCCTCTGACTCTGGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG
Task1_train_2897
Given this context: Chromosome 1, gene ACTN2 (actinin alpha 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Hypertrophic cardiomyopathy
TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAATTAGCTAGGTGTGGTCGTGCATGCCTATAGTCCCAGCTACTTAGGGGGCTGAGGCAGGAGGATCAGTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCACACCACTGTTCTCCAGCCTGGGTGACAGAGCTGGATGACCCTGTCTCCAAAACAAAACAAAACACTGTTATTTATTCATCTATTCTGCTGCAAGCAAGCATATTTTGCATATTTGTGAGCAAGAAATAAGCACATCTTAATTTAATCTATCTTTTCTACAAAGTAAAAGGGTTTCAAAAGGTGAAGATACAGGTATAAATGTGGTGTCTTTTTAAATGGAAGGCAAAAATTCTTCAGGTTGGAATATCCAATAAGAGAGTCTTTATCTCTAAAGTGGAAAATTTACTAAAATCGTTCTTTTGGGTTTCCAGTTCTTCTTTCCATCAAATTCTGCATCCTCTAGAAGCCCAAGCAGCCCCAGCCTTGTAGATTCCCAAGAACGTGTAAGGTGTCAAGTGTCGTCTGTGAGGAAGGGATCTGAAATCCGATGGACCTGTGCTAAACCGTGTTTGGTTTTCTTTGCAGACCTTCACTGCCTGGTGTAACTCCCACCTAAGGAAAGCCGGCACCCAGATTGAGAACATCGAGGAAGACTTCAGGAATGGCCTTAAGCTCATGCTGCTTTTGGAAGTCATCTCAGGTTGGTGTTATATATCCCATCCTATGCTTTCATGTGTTATCAGTAGGTGAGCATCTATTTAAAGATGACTACATCAGAAGTTCGCTTTGAACTTGGCTGGGCAAGAACATGGTATTATTGCCAAAGAAAACCTTTCCAAAGAACAATCTGCCTGGAGTTATTTTTCCGTTCTAAAAAAAGGAGTGAATTCTCTTTAAAAATCACTTATTAAAATAATGTTTATACCACCAAGCTTGAAACAAAATAAGAGAAGAAAAAATGACTTCACACGACTCCCTCCATGCTGCCCTTTCTACTCTTCGTCCAGCTAGAGTGTATTCCAGAAATCATCTTGTATCCAAAAATCTACTGTACATGTTGGCAGAACTCTGAACATATAAGCTAAAATCCCAGTGGGGCTATGATTTGTCCTGAATTTCAGTTGGCTGATTTAGACTTTGGACTAGAGAATGGATCACCTTTGGAGAAGTGTGACTGGGAAGGATTATGGCAGATCTGCCCTGATCCATCTGTCTTCATAATCAGGTGTCGAACGAGCCCTGGCAGCCACCTCTGTGATTTTAACTGGCCATCCTGACTTCCTCTAACCGTTAGCCAGCAACTCTGAATACTCCAGGGACTCTAACCAGCTTCTCTTTTTACTCATTTGTAAGTTGGATCATGGGCCAAACCAGACTCTCCCTGCAGATCTGAAAAGCATGTGTCCTTCATAGTATGGCTCCCTGCTGGTCCATTTGATTCTGAAAGTTTCTGGGTTAGTGTTCCCTCATTGCTGTGATTTAGAGAGACCAGGCACACATCAGAAATAGTCATGTAACCTTCTCTTTTTAAGGAAAAGATGGATGCTTAGTTTTGGCATCTTGATTCCGCATCAAGAGGTCACTGTCTCTATGTCTGCATGATTCTCTTTTCATCCAACAGGGGAAAGGCTGCCCAAACCTGACCGGGGAAAAATGCGGTTCCACAAAATTGCTAATGTCAACAAAGCTTTGGATTACATAGCCAGCAAAGGGGTGAAACTGGTGTCCATTGGCGCTGAAGGTGAGAGGTGTGGTGGGTGGTCCTGTCTGCCACACTGACCTAATAGCGTAGGTGTGGGCTGCGACTTGAATTCTCCCCTTCTTCCCTCCCTTTCACCATTTACTGTACCTGCCTTGTATCAGGCTCTCTCTTAGGGCGCTCGGTGCACAAAGATAAGAACAAATGGTACCATGAGTGGGAGACCAAGCTCTAGGTTCTTTGTAAAGCATAGAATTAAATATAATGCTGTCATCTTCAGAAGACTTAAAGGACTGAGAAAGAACTTACACATCCCAATGACTCTTAATAAGAACTAACTAATAGGAAGGAAGTGGCCTCTTTGTTCTCTATGGGAGACTGGGAATTTGGTGAGGTCAGCGGGAGCTGAGATTTCCACCCATATCTCTGTATGCACAACTGAGTCCTGCTACTTGTCAGCTGCGGAATGCCGTAAGAAGGGTCAGGGTAAAGATGAGACTGTGTTCTCTTTATTTGATTATTTAAAACTTTAGCTCATGGCTGGGCACAGTGGCTCATGCTCATCCCAGCACTTTGAGAGGCTGAGGCGGGTAGATCACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAATTTACAAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCTTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGATCCCAGGAGGCGGAGGTTGCAGTGAGCCACGGTTGTGTCACTGCACTGCGGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAACCTTAGCTATTACATCTTAAAACTTTGGAAACTCCCGGGTGGTTTTCACTGATAATACATATGCAAGATTTGTGCTTATTATTAACTTAGAATTTATTTAAACTAGAGACATTTGGTTATGAATACTGTATTTATAACCAGACATACTGCGGTGCTTATAAAAACATAAACTGGTCTTTCCATCCATATGCACATTTTCCAATAGCTCTGAAGTCAACATTTATATATAGGAAAAAAGTTACGTACAGACTATGTTATCTTTACATTAATTTGTTGTTTTCTTACCTGCAGAAATTGTTGATGGCAACGTGAAAATGACCCTGGGTATGATCTGGACCATCATCCTTCGCTTTGCTATTCAGGATATTTCGGTTGAAGGTAAAAGACATGGTTAAAAGTCTAATTGTATAATCTGTAAATTGAGCTTGTGAATTAAAATTTGAGCAAGATGTTTTAAAGTCCAACAGTCACTTACATGATTGAATGAGAGACATGTAAGTGGGTTCTTATAAATTTTGTATGTGTATAGGAAAAGACCTCGGCAGCACTGTTTCATTCATGGGGGTGGAATCGGTTTGCAAAAGATGAGCACATGTTCAGAACAGAAGTCGCTTTTTAAAATGAGCATTTATTGAGCTTCTTGATTGCTTATTATACTAGTAAATTTACAGCTATGGCAGAGTTCTTTAGTCTTACAACTGAAACACTTTCTTTCCCCCTGGTATAAAAAAAGAATCTGTTGCAACCCATGTTTGTTATTTCCTTAACTTTCTTCCTCCCTATCTCTCTCCCTCTCTTTTTCTTTTTTCTTCTTTTTCTTTTTAAACAAGACCTCTATTGTCACTGTATCTTTTGGCCTAACTACTGTTTCATCATTATCATAGAATCTTAATCCTTGACACTGCCACTGAAGATAAAAATCTTTAGTCTTTTACACCAACTACACTCCCAAATATTTTGATGAATTCAGCACTGTTGAAAAGTGTCAAATTGGCATTCTTAAAATTGGAACTTTGCCTGTTTGGCCCTCAAATCACAAAGTGTATAACTGCAGAATGTGTTTCAGGGCTGCTGCATTGTCCAACTATTTGGCCCCTTCTGACTCTGTAATCCAGTAGGTAACCAGGTACCTGAGTGGTAAGGGGTGGAGACGTTATTTATAATTCTGCCCAGGCCACAGTAGCCTCTGACTCTGGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG
TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAATTAGCTAGGTGTGGTCGTGCATGCCTATAGTCCCAGCTACTTAGGGGGCTGAGGCAGGAGGATCAGTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCACACCACTGTTCTCCAGCCTGGGTGACAGAGCTGGATGACCCTGTCTCCAAAACAAAACAAAACACTGTTATTTATTCATCTATTCTGCTGCAAGCAAGCATATTTTGCATATTTGTGAGCAAGAAATAAGCACATCTTAATTTAATCTATCTTTTCTACAAAGTAAAAGGGTTTCAAAAGGTGAAGATACAGGTATAAATGTGGTGTCTTTTTAAATGGAAGGCAAAAATTCTTCAGGTTGGAATATCCAATAAGAGAGTCTTTATCTCTAAAGTGGAAAATTTACTAAAATCGTTCTTTTGGGTTTCCAGTTCTTCTTTCCATCAAATTCTGCATCCTCTAGAAGCCCAAGCAGCCCCAGCCTTGTAGATTCCCAAGAACGTGTAAGGTGTCAAGTGTCGTCTGTGAGGAAGGGATCTGAAATCCGATGGACCTGTGCTAAACCGTGTTTGGTTTTCTTTGCAGACCTTCACTGCCTGGTGTAACTCCCACCTAAGGAAAGCCGGCACCCAGATTGAGAACATCGAGGAAGACTTCAGGAATGGCCTTAAGCTCATGCTGCTTTTGGAAGTCATCTCAGGTTGGTGTTATATATCCCATCCTATGCTTTCATGTGTTATCAGTAGGTGAGCATCTATTTAAAGATGACTACATCAGAAGTTCGCTTTGAACTTGGCTGGGCAAGAACATGGTATTATTGCCAAAGAAAACCTTTCCAAAGAACAATCTGCCTGGAGTTATTTTTCCGTTCTAAAAAAAGGAGTGAATTCTCTTTAAAAATCACTTATTAAAATAATGTTTATACCACCAAGCTTGAAACAAAATAAGAGAAGAAAAAATGACTTCACACGACTCCCTCCATGCTGCCCTTTCTACTCTTCGTCCAGCTAGAGTGTATTCCAGAAATCATCTTGTATCCAAAAATCTACTGTACATGTTGGCAGAACTCTGAACATATAAGCTAAAATCCCAGTGGGGCTATGATTTGTCCTGAATTTCAGTTGGCTGATTTAGACTTTGGACTAGAGAATGGATCACCTTTGGAGAAGTGTGACTGGGAAGGATTATGGCAGATCTGCCCTGATCCATCTGTCTTCATAATCAGGTGTCGAACGAGCCCTGGCAGCCACCTCTGTGATTTTAACTGGCCATCCTGACTTCCTCTAACCGTTAGCCAGCAACTCTGAATACTCCAGGGACTCTAACCAGCTTCTCTTTTTACTCATTTGTAAGTTGGATCATGGGCCAAACCAGACTCTCCCTGCAGATCTGAAAAGCATGTGTCCTTCATAGTATGGCTCCCTGCTGGTCCATTTGATTCTGAAAGTTTCTGGGTTAGTGTTCCCTCATTGCTGTGATTTAGAGAGACCAGGCACACATCAGAAATAGTCATGTAACCTTCTCTTTTTAAGGAAAAGATGGATGCTTAGTTTTGGCATCTTGATTCCGCATCAAGAGGTCACTGTCTCTATGTCTGCATGATTCTCTTTTCATCCAACAGGGGAAAGGCTGCCCAAACCTGACCGGGGAAAAATGCGGTTCCACAAAATTGCTAATGTCAACAAAGCTTTGGATTACATAGCCAGCAAAGGGGTGAAACTGGTGTCCATTGGCACTGAAGGTGAGAGGTGTGGTGGGTGGTCCTGTCTGCCACACTGACCTAATAGCGTAGGTGTGGGCTGCGACTTGAATTCTCCCCTTCTTCCCTCCCTTTCACCATTTACTGTACCTGCCTTGTATCAGGCTCTCTCTTAGGGCGCTCGGTGCACAAAGATAAGAACAAATGGTACCATGAGTGGGAGACCAAGCTCTAGGTTCTTTGTAAAGCATAGAATTAAATATAATGCTGTCATCTTCAGAAGACTTAAAGGACTGAGAAAGAACTTACACATCCCAATGACTCTTAATAAGAACTAACTAATAGGAAGGAAGTGGCCTCTTTGTTCTCTATGGGAGACTGGGAATTTGGTGAGGTCAGCGGGAGCTGAGATTTCCACCCATATCTCTGTATGCACAACTGAGTCCTGCTACTTGTCAGCTGCGGAATGCCGTAAGAAGGGTCAGGGTAAAGATGAGACTGTGTTCTCTTTATTTGATTATTTAAAACTTTAGCTCATGGCTGGGCACAGTGGCTCATGCTCATCCCAGCACTTTGAGAGGCTGAGGCGGGTAGATCACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAATTTACAAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCTTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGATCCCAGGAGGCGGAGGTTGCAGTGAGCCACGGTTGTGTCACTGCACTGCGGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAACCTTAGCTATTACATCTTAAAACTTTGGAAACTCCCGGGTGGTTTTCACTGATAATACATATGCAAGATTTGTGCTTATTATTAACTTAGAATTTATTTAAACTAGAGACATTTGGTTATGAATACTGTATTTATAACCAGACATACTGCGGTGCTTATAAAAACATAAACTGGTCTTTCCATCCATATGCACATTTTCCAATAGCTCTGAAGTCAACATTTATATATAGGAAAAAAGTTACGTACAGACTATGTTATCTTTACATTAATTTGTTGTTTTCTTACCTGCAGAAATTGTTGATGGCAACGTGAAAATGACCCTGGGTATGATCTGGACCATCATCCTTCGCTTTGCTATTCAGGATATTTCGGTTGAAGGTAAAAGACATGGTTAAAAGTCTAATTGTATAATCTGTAAATTGAGCTTGTGAATTAAAATTTGAGCAAGATGTTTTAAAGTCCAACAGTCACTTACATGATTGAATGAGAGACATGTAAGTGGGTTCTTATAAATTTTGTATGTGTATAGGAAAAGACCTCGGCAGCACTGTTTCATTCATGGGGGTGGAATCGGTTTGCAAAAGATGAGCACATGTTCAGAACAGAAGTCGCTTTTTAAAATGAGCATTTATTGAGCTTCTTGATTGCTTATTATACTAGTAAATTTACAGCTATGGCAGAGTTCTTTAGTCTTACAACTGAAACACTTTCTTTCCCCCTGGTATAAAAAAAGAATCTGTTGCAACCCATGTTTGTTATTTCCTTAACTTTCTTCCTCCCTATCTCTCTCCCTCTCTTTTTCTTTTTTCTTCTTTTTCTTTTTAAACAAGACCTCTATTGTCACTGTATCTTTTGGCCTAACTACTGTTTCATCATTATCATAGAATCTTAATCCTTGACACTGCCACTGAAGATAAAAATCTTTAGTCTTTTACACCAACTACACTCCCAAATATTTTGATGAATTCAGCACTGTTGAAAAGTGTCAAATTGGCATTCTTAAAATTGGAACTTTGCCTGTTTGGCCCTCAAATCACAAAGTGTATAACTGCAGAATGTGTTTCAGGGCTGCTGCATTGTCCAACTATTTGGCCCCTTCTGACTCTGTAATCCAGTAGGTAACCAGGTACCTGAGTGGTAAGGGGTGGAGACGTTATTTATAATTCTGCCCAGGCCACAGTAGCCTCTGACTCTGGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG
Task1_train_2898
The variant affects gene ACTN2 (actinin alpha 2), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Dilated cardiomyopathy 1AA
TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAATTAGCTAGGTGTGGTCGTGCATGCCTATAGTCCCAGCTACTTAGGGGGCTGAGGCAGGAGGATCAGTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCACACCACTGTTCTCCAGCCTGGGTGACAGAGCTGGATGACCCTGTCTCCAAAACAAAACAAAACACTGTTATTTATTCATCTATTCTGCTGCAAGCAAGCATATTTTGCATATTTGTGAGCAAGAAATAAGCACATCTTAATTTAATCTATCTTTTCTACAAAGTAAAAGGGTTTCAAAAGGTGAAGATACAGGTATAAATGTGGTGTCTTTTTAAATGGAAGGCAAAAATTCTTCAGGTTGGAATATCCAATAAGAGAGTCTTTATCTCTAAAGTGGAAAATTTACTAAAATCGTTCTTTTGGGTTTCCAGTTCTTCTTTCCATCAAATTCTGCATCCTCTAGAAGCCCAAGCAGCCCCAGCCTTGTAGATTCCCAAGAACGTGTAAGGTGTCAAGTGTCGTCTGTGAGGAAGGGATCTGAAATCCGATGGACCTGTGCTAAACCGTGTTTGGTTTTCTTTGCAGACCTTCACTGCCTGGTGTAACTCCCACCTAAGGAAAGCCGGCACCCAGATTGAGAACATCGAGGAAGACTTCAGGAATGGCCTTAAGCTCATGCTGCTTTTGGAAGTCATCTCAGGTTGGTGTTATATATCCCATCCTATGCTTTCATGTGTTATCAGTAGGTGAGCATCTATTTAAAGATGACTACATCAGAAGTTCGCTTTGAACTTGGCTGGGCAAGAACATGGTATTATTGCCAAAGAAAACCTTTCCAAAGAACAATCTGCCTGGAGTTATTTTTCCGTTCTAAAAAAAGGAGTGAATTCTCTTTAAAAATCACTTATTAAAATAATGTTTATACCACCAAGCTTGAAACAAAATAAGAGAAGAAAAAATGACTTCACACGACTCCCTCCATGCTGCCCTTTCTACTCTTCGTCCAGCTAGAGTGTATTCCAGAAATCATCTTGTATCCAAAAATCTACTGTACATGTTGGCAGAACTCTGAACATATAAGCTAAAATCCCAGTGGGGCTATGATTTGTCCTGAATTTCAGTTGGCTGATTTAGACTTTGGACTAGAGAATGGATCACCTTTGGAGAAGTGTGACTGGGAAGGATTATGGCAGATCTGCCCTGATCCATCTGTCTTCATAATCAGGTGTCGAACGAGCCCTGGCAGCCACCTCTGTGATTTTAACTGGCCATCCTGACTTCCTCTAACCGTTAGCCAGCAACTCTGAATACTCCAGGGACTCTAACCAGCTTCTCTTTTTACTCATTTGTAAGTTGGATCATGGGCCAAACCAGACTCTCCCTGCAGATCTGAAAAGCATGTGTCCTTCATAGTATGGCTCCCTGCTGGTCCATTTGATTCTGAAAGTTTCTGGGTTAGTGTTCCCTCATTGCTGTGATTTAGAGAGACCAGGCACACATCAGAAATAGTCATGTAACCTTCTCTTTTTAAGGAAAAGATGGATGCTTAGTTTTGGCATCTTGATTCCGCATCAAGAGGTCACTGTCTCTATGTCTGCATGATTCTCTTTTCATCCAACAGGGGAAAGGCTGCCCAAACCTGACCGGGGAAAAATGCGGTTCCACAAAATTGCTAATGTCAACAAAGCTTTGGATTACATAGCCAGCAAAGGGGTGAAACTGGTGTCCATTGGCGCTGAAGGTGAGAGGTGTGGTGGGTGGTCCTGTCTGCCACACTGACCTAATAGCGTAGGTGTGGGCTGCGACTTGAATTCTCCCCTTCTTCCCTCCCTTTCACCATTTACTGTACCTGCCTTGTATCAGGCTCTCTCTTAGGGCGCTCGGTGCACAAAGATAAGAACAAATGGTACCATGAGTGGGAGACCAAGCTCTAGGTTCTTTGTAAAGCATAGAATTAAATATAATGCTGTCATCTTCAGAAGACTTAAAGGACTGAGAAAGAACTTACACATCCCAATGACTCTTAATAAGAACTAACTAATAGGAAGGAAGTGGCCTCTTTGTTCTCTATGGGAGACTGGGAATTTGGTGAGGTCAGCGGGAGCTGAGATTTCCACCCATATCTCTGTATGCACAACTGAGTCCTGCTACTTGTCAGCTGCGGAATGCCGTAAGAAGGGTCAGGGTAAAGATGAGACTGTGTTCTCTTTATTTGATTATTTAAAACTTTAGCTCATGGCTGGGCACAGTGGCTCATGCTCATCCCAGCACTTTGAGAGGCTGAGGCGGGTAGATCACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAATTTACAAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCTTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGATCCCAGGAGGCGGAGGTTGCAGTGAGCCACGGTTGTGTCACTGCACTGCGGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAACCTTAGCTATTACATCTTAAAACTTTGGAAACTCCCGGGTGGTTTTCACTGATAATACATATGCAAGATTTGTGCTTATTATTAACTTAGAATTTATTTAAACTAGAGACATTTGGTTATGAATACTGTATTTATAACCAGACATACTGCGGTGCTTATAAAAACATAAACTGGTCTTTCCATCCATATGCACATTTTCCAATAGCTCTGAAGTCAACATTTATATATAGGAAAAAAGTTACGTACAGACTATGTTATCTTTACATTAATTTGTTGTTTTCTTACCTGCAGAAATTGTTGATGGCAACGTGAAAATGACCCTGGGTATGATCTGGACCATCATCCTTCGCTTTGCTATTCAGGATATTTCGGTTGAAGGTAAAAGACATGGTTAAAAGTCTAATTGTATAATCTGTAAATTGAGCTTGTGAATTAAAATTTGAGCAAGATGTTTTAAAGTCCAACAGTCACTTACATGATTGAATGAGAGACATGTAAGTGGGTTCTTATAAATTTTGTATGTGTATAGGAAAAGACCTCGGCAGCACTGTTTCATTCATGGGGGTGGAATCGGTTTGCAAAAGATGAGCACATGTTCAGAACAGAAGTCGCTTTTTAAAATGAGCATTTATTGAGCTTCTTGATTGCTTATTATACTAGTAAATTTACAGCTATGGCAGAGTTCTTTAGTCTTACAACTGAAACACTTTCTTTCCCCCTGGTATAAAAAAAGAATCTGTTGCAACCCATGTTTGTTATTTCCTTAACTTTCTTCCTCCCTATCTCTCTCCCTCTCTTTTTCTTTTTTCTTCTTTTTCTTTTTAAACAAGACCTCTATTGTCACTGTATCTTTTGGCCTAACTACTGTTTCATCATTATCATAGAATCTTAATCCTTGACACTGCCACTGAAGATAAAAATCTTTAGTCTTTTACACCAACTACACTCCCAAATATTTTGATGAATTCAGCACTGTTGAAAAGTGTCAAATTGGCATTCTTAAAATTGGAACTTTGCCTGTTTGGCCCTCAAATCACAAAGTGTATAACTGCAGAATGTGTTTCAGGGCTGCTGCATTGTCCAACTATTTGGCCCCTTCTGACTCTGTAATCCAGTAGGTAACCAGGTACCTGAGTGGTAAGGGGTGGAGACGTTATTTATAATTCTGCCCAGGCCACAGTAGCCTCTGACTCTGGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG
TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAATTAGCTAGGTGTGGTCGTGCATGCCTATAGTCCCAGCTACTTAGGGGGCTGAGGCAGGAGGATCAGTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCACACCACTGTTCTCCAGCCTGGGTGACAGAGCTGGATGACCCTGTCTCCAAAACAAAACAAAACACTGTTATTTATTCATCTATTCTGCTGCAAGCAAGCATATTTTGCATATTTGTGAGCAAGAAATAAGCACATCTTAATTTAATCTATCTTTTCTACAAAGTAAAAGGGTTTCAAAAGGTGAAGATACAGGTATAAATGTGGTGTCTTTTTAAATGGAAGGCAAAAATTCTTCAGGTTGGAATATCCAATAAGAGAGTCTTTATCTCTAAAGTGGAAAATTTACTAAAATCGTTCTTTTGGGTTTCCAGTTCTTCTTTCCATCAAATTCTGCATCCTCTAGAAGCCCAAGCAGCCCCAGCCTTGTAGATTCCCAAGAACGTGTAAGGTGTCAAGTGTCGTCTGTGAGGAAGGGATCTGAAATCCGATGGACCTGTGCTAAACCGTGTTTGGTTTTCTTTGCAGACCTTCACTGCCTGGTGTAACTCCCACCTAAGGAAAGCCGGCACCCAGATTGAGAACATCGAGGAAGACTTCAGGAATGGCCTTAAGCTCATGCTGCTTTTGGAAGTCATCTCAGGTTGGTGTTATATATCCCATCCTATGCTTTCATGTGTTATCAGTAGGTGAGCATCTATTTAAAGATGACTACATCAGAAGTTCGCTTTGAACTTGGCTGGGCAAGAACATGGTATTATTGCCAAAGAAAACCTTTCCAAAGAACAATCTGCCTGGAGTTATTTTTCCGTTCTAAAAAAAGGAGTGAATTCTCTTTAAAAATCACTTATTAAAATAATGTTTATACCACCAAGCTTGAAACAAAATAAGAGAAGAAAAAATGACTTCACACGACTCCCTCCATGCTGCCCTTTCTACTCTTCGTCCAGCTAGAGTGTATTCCAGAAATCATCTTGTATCCAAAAATCTACTGTACATGTTGGCAGAACTCTGAACATATAAGCTAAAATCCCAGTGGGGCTATGATTTGTCCTGAATTTCAGTTGGCTGATTTAGACTTTGGACTAGAGAATGGATCACCTTTGGAGAAGTGTGACTGGGAAGGATTATGGCAGATCTGCCCTGATCCATCTGTCTTCATAATCAGGTGTCGAACGAGCCCTGGCAGCCACCTCTGTGATTTTAACTGGCCATCCTGACTTCCTCTAACCGTTAGCCAGCAACTCTGAATACTCCAGGGACTCTAACCAGCTTCTCTTTTTACTCATTTGTAAGTTGGATCATGGGCCAAACCAGACTCTCCCTGCAGATCTGAAAAGCATGTGTCCTTCATAGTATGGCTCCCTGCTGGTCCATTTGATTCTGAAAGTTTCTGGGTTAGTGTTCCCTCATTGCTGTGATTTAGAGAGACCAGGCACACATCAGAAATAGTCATGTAACCTTCTCTTTTTAAGGAAAAGATGGATGCTTAGTTTTGGCATCTTGATTCCGCATCAAGAGGTCACTGTCTCTATGTCTGCATGATTCTCTTTTCATCCAACAGGGGAAAGGCTGCCCAAACCTGACCGGGGAAAAATGCGGTTCCACAAAATTGCTAATGTCAACAAAGCTTTGGATTACATAGCCAGCAAAGGGGTGAAACTGGTGTCCATTGGCACTGAAGGTGAGAGGTGTGGTGGGTGGTCCTGTCTGCCACACTGACCTAATAGCGTAGGTGTGGGCTGCGACTTGAATTCTCCCCTTCTTCCCTCCCTTTCACCATTTACTGTACCTGCCTTGTATCAGGCTCTCTCTTAGGGCGCTCGGTGCACAAAGATAAGAACAAATGGTACCATGAGTGGGAGACCAAGCTCTAGGTTCTTTGTAAAGCATAGAATTAAATATAATGCTGTCATCTTCAGAAGACTTAAAGGACTGAGAAAGAACTTACACATCCCAATGACTCTTAATAAGAACTAACTAATAGGAAGGAAGTGGCCTCTTTGTTCTCTATGGGAGACTGGGAATTTGGTGAGGTCAGCGGGAGCTGAGATTTCCACCCATATCTCTGTATGCACAACTGAGTCCTGCTACTTGTCAGCTGCGGAATGCCGTAAGAAGGGTCAGGGTAAAGATGAGACTGTGTTCTCTTTATTTGATTATTTAAAACTTTAGCTCATGGCTGGGCACAGTGGCTCATGCTCATCCCAGCACTTTGAGAGGCTGAGGCGGGTAGATCACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAATTTACAAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCTTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGATCCCAGGAGGCGGAGGTTGCAGTGAGCCACGGTTGTGTCACTGCACTGCGGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAACCTTAGCTATTACATCTTAAAACTTTGGAAACTCCCGGGTGGTTTTCACTGATAATACATATGCAAGATTTGTGCTTATTATTAACTTAGAATTTATTTAAACTAGAGACATTTGGTTATGAATACTGTATTTATAACCAGACATACTGCGGTGCTTATAAAAACATAAACTGGTCTTTCCATCCATATGCACATTTTCCAATAGCTCTGAAGTCAACATTTATATATAGGAAAAAAGTTACGTACAGACTATGTTATCTTTACATTAATTTGTTGTTTTCTTACCTGCAGAAATTGTTGATGGCAACGTGAAAATGACCCTGGGTATGATCTGGACCATCATCCTTCGCTTTGCTATTCAGGATATTTCGGTTGAAGGTAAAAGACATGGTTAAAAGTCTAATTGTATAATCTGTAAATTGAGCTTGTGAATTAAAATTTGAGCAAGATGTTTTAAAGTCCAACAGTCACTTACATGATTGAATGAGAGACATGTAAGTGGGTTCTTATAAATTTTGTATGTGTATAGGAAAAGACCTCGGCAGCACTGTTTCATTCATGGGGGTGGAATCGGTTTGCAAAAGATGAGCACATGTTCAGAACAGAAGTCGCTTTTTAAAATGAGCATTTATTGAGCTTCTTGATTGCTTATTATACTAGTAAATTTACAGCTATGGCAGAGTTCTTTAGTCTTACAACTGAAACACTTTCTTTCCCCCTGGTATAAAAAAAGAATCTGTTGCAACCCATGTTTGTTATTTCCTTAACTTTCTTCCTCCCTATCTCTCTCCCTCTCTTTTTCTTTTTTCTTCTTTTTCTTTTTAAACAAGACCTCTATTGTCACTGTATCTTTTGGCCTAACTACTGTTTCATCATTATCATAGAATCTTAATCCTTGACACTGCCACTGAAGATAAAAATCTTTAGTCTTTTACACCAACTACACTCCCAAATATTTTGATGAATTCAGCACTGTTGAAAAGTGTCAAATTGGCATTCTTAAAATTGGAACTTTGCCTGTTTGGCCCTCAAATCACAAAGTGTATAACTGCAGAATGTGTTTCAGGGCTGCTGCATTGTCCAACTATTTGGCCCCTTCTGACTCTGTAATCCAGTAGGTAACCAGGTACCTGAGTGGTAAGGGGTGGAGACGTTATTTATAATTCTGCCCAGGCCACAGTAGCCTCTGACTCTGGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG
Task1_train_2899
Here is a variant affecting ACTN2 (actinin alpha 2) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Primary familial hypertrophic cardiomyopathy
TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAATTAGCTAGGTGTGGTCGTGCATGCCTATAGTCCCAGCTACTTAGGGGGCTGAGGCAGGAGGATCAGTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCACACCACTGTTCTCCAGCCTGGGTGACAGAGCTGGATGACCCTGTCTCCAAAACAAAACAAAACACTGTTATTTATTCATCTATTCTGCTGCAAGCAAGCATATTTTGCATATTTGTGAGCAAGAAATAAGCACATCTTAATTTAATCTATCTTTTCTACAAAGTAAAAGGGTTTCAAAAGGTGAAGATACAGGTATAAATGTGGTGTCTTTTTAAATGGAAGGCAAAAATTCTTCAGGTTGGAATATCCAATAAGAGAGTCTTTATCTCTAAAGTGGAAAATTTACTAAAATCGTTCTTTTGGGTTTCCAGTTCTTCTTTCCATCAAATTCTGCATCCTCTAGAAGCCCAAGCAGCCCCAGCCTTGTAGATTCCCAAGAACGTGTAAGGTGTCAAGTGTCGTCTGTGAGGAAGGGATCTGAAATCCGATGGACCTGTGCTAAACCGTGTTTGGTTTTCTTTGCAGACCTTCACTGCCTGGTGTAACTCCCACCTAAGGAAAGCCGGCACCCAGATTGAGAACATCGAGGAAGACTTCAGGAATGGCCTTAAGCTCATGCTGCTTTTGGAAGTCATCTCAGGTTGGTGTTATATATCCCATCCTATGCTTTCATGTGTTATCAGTAGGTGAGCATCTATTTAAAGATGACTACATCAGAAGTTCGCTTTGAACTTGGCTGGGCAAGAACATGGTATTATTGCCAAAGAAAACCTTTCCAAAGAACAATCTGCCTGGAGTTATTTTTCCGTTCTAAAAAAAGGAGTGAATTCTCTTTAAAAATCACTTATTAAAATAATGTTTATACCACCAAGCTTGAAACAAAATAAGAGAAGAAAAAATGACTTCACACGACTCCCTCCATGCTGCCCTTTCTACTCTTCGTCCAGCTAGAGTGTATTCCAGAAATCATCTTGTATCCAAAAATCTACTGTACATGTTGGCAGAACTCTGAACATATAAGCTAAAATCCCAGTGGGGCTATGATTTGTCCTGAATTTCAGTTGGCTGATTTAGACTTTGGACTAGAGAATGGATCACCTTTGGAGAAGTGTGACTGGGAAGGATTATGGCAGATCTGCCCTGATCCATCTGTCTTCATAATCAGGTGTCGAACGAGCCCTGGCAGCCACCTCTGTGATTTTAACTGGCCATCCTGACTTCCTCTAACCGTTAGCCAGCAACTCTGAATACTCCAGGGACTCTAACCAGCTTCTCTTTTTACTCATTTGTAAGTTGGATCATGGGCCAAACCAGACTCTCCCTGCAGATCTGAAAAGCATGTGTCCTTCATAGTATGGCTCCCTGCTGGTCCATTTGATTCTGAAAGTTTCTGGGTTAGTGTTCCCTCATTGCTGTGATTTAGAGAGACCAGGCACACATCAGAAATAGTCATGTAACCTTCTCTTTTTAAGGAAAAGATGGATGCTTAGTTTTGGCATCTTGATTCCGCATCAAGAGGTCACTGTCTCTATGTCTGCATGATTCTCTTTTCATCCAACAGGGGAAAGGCTGCCCAAACCTGACCGGGGAAAAATGCGGTTCCACAAAATTGCTAATGTCAACAAAGCTTTGGATTACATAGCCAGCAAAGGGGTGAAACTGGTGTCCATTGGCGCTGAAGGTGAGAGGTGTGGTGGGTGGTCCTGTCTGCCACACTGACCTAATAGCGTAGGTGTGGGCTGCGACTTGAATTCTCCCCTTCTTCCCTCCCTTTCACCATTTACTGTACCTGCCTTGTATCAGGCTCTCTCTTAGGGCGCTCGGTGCACAAAGATAAGAACAAATGGTACCATGAGTGGGAGACCAAGCTCTAGGTTCTTTGTAAAGCATAGAATTAAATATAATGCTGTCATCTTCAGAAGACTTAAAGGACTGAGAAAGAACTTACACATCCCAATGACTCTTAATAAGAACTAACTAATAGGAAGGAAGTGGCCTCTTTGTTCTCTATGGGAGACTGGGAATTTGGTGAGGTCAGCGGGAGCTGAGATTTCCACCCATATCTCTGTATGCACAACTGAGTCCTGCTACTTGTCAGCTGCGGAATGCCGTAAGAAGGGTCAGGGTAAAGATGAGACTGTGTTCTCTTTATTTGATTATTTAAAACTTTAGCTCATGGCTGGGCACAGTGGCTCATGCTCATCCCAGCACTTTGAGAGGCTGAGGCGGGTAGATCACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAATTTACAAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCTTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGATCCCAGGAGGCGGAGGTTGCAGTGAGCCACGGTTGTGTCACTGCACTGCGGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAACCTTAGCTATTACATCTTAAAACTTTGGAAACTCCCGGGTGGTTTTCACTGATAATACATATGCAAGATTTGTGCTTATTATTAACTTAGAATTTATTTAAACTAGAGACATTTGGTTATGAATACTGTATTTATAACCAGACATACTGCGGTGCTTATAAAAACATAAACTGGTCTTTCCATCCATATGCACATTTTCCAATAGCTCTGAAGTCAACATTTATATATAGGAAAAAAGTTACGTACAGACTATGTTATCTTTACATTAATTTGTTGTTTTCTTACCTGCAGAAATTGTTGATGGCAACGTGAAAATGACCCTGGGTATGATCTGGACCATCATCCTTCGCTTTGCTATTCAGGATATTTCGGTTGAAGGTAAAAGACATGGTTAAAAGTCTAATTGTATAATCTGTAAATTGAGCTTGTGAATTAAAATTTGAGCAAGATGTTTTAAAGTCCAACAGTCACTTACATGATTGAATGAGAGACATGTAAGTGGGTTCTTATAAATTTTGTATGTGTATAGGAAAAGACCTCGGCAGCACTGTTTCATTCATGGGGGTGGAATCGGTTTGCAAAAGATGAGCACATGTTCAGAACAGAAGTCGCTTTTTAAAATGAGCATTTATTGAGCTTCTTGATTGCTTATTATACTAGTAAATTTACAGCTATGGCAGAGTTCTTTAGTCTTACAACTGAAACACTTTCTTTCCCCCTGGTATAAAAAAAGAATCTGTTGCAACCCATGTTTGTTATTTCCTTAACTTTCTTCCTCCCTATCTCTCTCCCTCTCTTTTTCTTTTTTCTTCTTTTTCTTTTTAAACAAGACCTCTATTGTCACTGTATCTTTTGGCCTAACTACTGTTTCATCATTATCATAGAATCTTAATCCTTGACACTGCCACTGAAGATAAAAATCTTTAGTCTTTTACACCAACTACACTCCCAAATATTTTGATGAATTCAGCACTGTTGAAAAGTGTCAAATTGGCATTCTTAAAATTGGAACTTTGCCTGTTTGGCCCTCAAATCACAAAGTGTATAACTGCAGAATGTGTTTCAGGGCTGCTGCATTGTCCAACTATTTGGCCCCTTCTGACTCTGTAATCCAGTAGGTAACCAGGTACCTGAGTGGTAAGGGGTGGAGACGTTATTTATAATTCTGCCCAGGCCACAGTAGCCTCTGACTCTGGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG
TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAATTAGCTAGGTGTGGTCGTGCATGCCTATAGTCCCAGCTACTTAGGGGGCTGAGGCAGGAGGATCAGTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCACACCACTGTTCTCCAGCCTGGGTGACAGAGCTGGATGACCCTGTCTCCAAAACAAAACAAAACACTGTTATTTATTCATCTATTCTGCTGCAAGCAAGCATATTTTGCATATTTGTGAGCAAGAAATAAGCACATCTTAATTTAATCTATCTTTTCTACAAAGTAAAAGGGTTTCAAAAGGTGAAGATACAGGTATAAATGTGGTGTCTTTTTAAATGGAAGGCAAAAATTCTTCAGGTTGGAATATCCAATAAGAGAGTCTTTATCTCTAAAGTGGAAAATTTACTAAAATCGTTCTTTTGGGTTTCCAGTTCTTCTTTCCATCAAATTCTGCATCCTCTAGAAGCCCAAGCAGCCCCAGCCTTGTAGATTCCCAAGAACGTGTAAGGTGTCAAGTGTCGTCTGTGAGGAAGGGATCTGAAATCCGATGGACCTGTGCTAAACCGTGTTTGGTTTTCTTTGCAGACCTTCACTGCCTGGTGTAACTCCCACCTAAGGAAAGCCGGCACCCAGATTGAGAACATCGAGGAAGACTTCAGGAATGGCCTTAAGCTCATGCTGCTTTTGGAAGTCATCTCAGGTTGGTGTTATATATCCCATCCTATGCTTTCATGTGTTATCAGTAGGTGAGCATCTATTTAAAGATGACTACATCAGAAGTTCGCTTTGAACTTGGCTGGGCAAGAACATGGTATTATTGCCAAAGAAAACCTTTCCAAAGAACAATCTGCCTGGAGTTATTTTTCCGTTCTAAAAAAAGGAGTGAATTCTCTTTAAAAATCACTTATTAAAATAATGTTTATACCACCAAGCTTGAAACAAAATAAGAGAAGAAAAAATGACTTCACACGACTCCCTCCATGCTGCCCTTTCTACTCTTCGTCCAGCTAGAGTGTATTCCAGAAATCATCTTGTATCCAAAAATCTACTGTACATGTTGGCAGAACTCTGAACATATAAGCTAAAATCCCAGTGGGGCTATGATTTGTCCTGAATTTCAGTTGGCTGATTTAGACTTTGGACTAGAGAATGGATCACCTTTGGAGAAGTGTGACTGGGAAGGATTATGGCAGATCTGCCCTGATCCATCTGTCTTCATAATCAGGTGTCGAACGAGCCCTGGCAGCCACCTCTGTGATTTTAACTGGCCATCCTGACTTCCTCTAACCGTTAGCCAGCAACTCTGAATACTCCAGGGACTCTAACCAGCTTCTCTTTTTACTCATTTGTAAGTTGGATCATGGGCCAAACCAGACTCTCCCTGCAGATCTGAAAAGCATGTGTCCTTCATAGTATGGCTCCCTGCTGGTCCATTTGATTCTGAAAGTTTCTGGGTTAGTGTTCCCTCATTGCTGTGATTTAGAGAGACCAGGCACACATCAGAAATAGTCATGTAACCTTCTCTTTTTAAGGAAAAGATGGATGCTTAGTTTTGGCATCTTGATTCCGCATCAAGAGGTCACTGTCTCTATGTCTGCATGATTCTCTTTTCATCCAACAGGGGAAAGGCTGCCCAAACCTGACCGGGGAAAAATGCGGTTCCACAAAATTGCTAATGTCAACAAAGCTTTGGATTACATAGCCAGCAAAGGGGTGAAACTGGTGTCCATTGGCACTGAAGGTGAGAGGTGTGGTGGGTGGTCCTGTCTGCCACACTGACCTAATAGCGTAGGTGTGGGCTGCGACTTGAATTCTCCCCTTCTTCCCTCCCTTTCACCATTTACTGTACCTGCCTTGTATCAGGCTCTCTCTTAGGGCGCTCGGTGCACAAAGATAAGAACAAATGGTACCATGAGTGGGAGACCAAGCTCTAGGTTCTTTGTAAAGCATAGAATTAAATATAATGCTGTCATCTTCAGAAGACTTAAAGGACTGAGAAAGAACTTACACATCCCAATGACTCTTAATAAGAACTAACTAATAGGAAGGAAGTGGCCTCTTTGTTCTCTATGGGAGACTGGGAATTTGGTGAGGTCAGCGGGAGCTGAGATTTCCACCCATATCTCTGTATGCACAACTGAGTCCTGCTACTTGTCAGCTGCGGAATGCCGTAAGAAGGGTCAGGGTAAAGATGAGACTGTGTTCTCTTTATTTGATTATTTAAAACTTTAGCTCATGGCTGGGCACAGTGGCTCATGCTCATCCCAGCACTTTGAGAGGCTGAGGCGGGTAGATCACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAATTTACAAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCTTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGATCCCAGGAGGCGGAGGTTGCAGTGAGCCACGGTTGTGTCACTGCACTGCGGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAACCTTAGCTATTACATCTTAAAACTTTGGAAACTCCCGGGTGGTTTTCACTGATAATACATATGCAAGATTTGTGCTTATTATTAACTTAGAATTTATTTAAACTAGAGACATTTGGTTATGAATACTGTATTTATAACCAGACATACTGCGGTGCTTATAAAAACATAAACTGGTCTTTCCATCCATATGCACATTTTCCAATAGCTCTGAAGTCAACATTTATATATAGGAAAAAAGTTACGTACAGACTATGTTATCTTTACATTAATTTGTTGTTTTCTTACCTGCAGAAATTGTTGATGGCAACGTGAAAATGACCCTGGGTATGATCTGGACCATCATCCTTCGCTTTGCTATTCAGGATATTTCGGTTGAAGGTAAAAGACATGGTTAAAAGTCTAATTGTATAATCTGTAAATTGAGCTTGTGAATTAAAATTTGAGCAAGATGTTTTAAAGTCCAACAGTCACTTACATGATTGAATGAGAGACATGTAAGTGGGTTCTTATAAATTTTGTATGTGTATAGGAAAAGACCTCGGCAGCACTGTTTCATTCATGGGGGTGGAATCGGTTTGCAAAAGATGAGCACATGTTCAGAACAGAAGTCGCTTTTTAAAATGAGCATTTATTGAGCTTCTTGATTGCTTATTATACTAGTAAATTTACAGCTATGGCAGAGTTCTTTAGTCTTACAACTGAAACACTTTCTTTCCCCCTGGTATAAAAAAAGAATCTGTTGCAACCCATGTTTGTTATTTCCTTAACTTTCTTCCTCCCTATCTCTCTCCCTCTCTTTTTCTTTTTTCTTCTTTTTCTTTTTAAACAAGACCTCTATTGTCACTGTATCTTTTGGCCTAACTACTGTTTCATCATTATCATAGAATCTTAATCCTTGACACTGCCACTGAAGATAAAAATCTTTAGTCTTTTACACCAACTACACTCCCAAATATTTTGATGAATTCAGCACTGTTGAAAAGTGTCAAATTGGCATTCTTAAAATTGGAACTTTGCCTGTTTGGCCCTCAAATCACAAAGTGTATAACTGCAGAATGTGTTTCAGGGCTGCTGCATTGTCCAACTATTTGGCCCCTTCTGACTCTGTAATCCAGTAGGTAACCAGGTACCTGAGTGGTAAGGGGTGGAGACGTTATTTATAATTCTGCCCAGGCCACAGTAGCCTCTGACTCTGGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG