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_27400
Here is a mutation in FKRP (fukutin related protein) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTG
GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTGTGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTG
Task1_train_27401
A variant affecting Chromosome 19, within the gene FKRP (fukutin related protein), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
GTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAG
GTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGACTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAG
Task1_train_27402
This mutation occurs in FKRP (fukutin related protein) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Walker-Warburg congenital muscular dystrophy
CACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTAT
CACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGATGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTAT
Task1_train_27403
Here’s a variant in FKRP (fukutin related protein) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Muscular dystrophy-dystroglycanopathy type B5
CACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTAT
CACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGATGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTAT
Task1_train_27404
A mutation in FKRP (fukutin related protein), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2I
CACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTAT
CACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGATGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTAT
Task1_train_27405
A change on Chromosome 19 affects gene FKRP (fukutin related protein). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
CACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTAT
CACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGATGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTAT
Task1_train_27406
Gene FKRP (fukutin related protein), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
TTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTT
TTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTACCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTT
Task1_train_27407
Chromosome 19 houses a mutation in gene FKRP (fukutin related protein). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Walker-Warburg congenital muscular dystrophy
TTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAG
TTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCAACTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAG
Task1_train_27408
A genetic alteration is present in FKRP (fukutin related protein) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Walker-Warburg congenital muscular dystrophy
TTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAG
TTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCACCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAG
Task1_train_27409
The gene FKRP (fukutin related protein) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
TTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTC
TTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCTTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTC
Task1_train_27410
A mutation found in FKRP (fukutin related protein) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Walker-Warburg congenital muscular dystrophy
CAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTAAAAATACA
CAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGACGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTAAAAATACA
Task1_train_27411
A change on Chromosome 19 affects gene FKRP (fukutin related protein). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
CAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTAAAAATACA
CAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGACGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTAAAAATACA
Task1_train_27412
A variant affecting Chromosome 19, within the gene FKRP (fukutin related protein), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2I
CAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTAAAAATACA
CAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGACGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTAAAAATACA
Task1_train_27413
Located on Chromosome 19, this mutation impacts FKRP (fukutin related protein). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Muscular dystrophy-dystroglycanopathy type B5
CAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTAAAAATACA
CAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGACGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTAAAAATACA
Task1_train_27414
Assess the clinical impact of this variant on gene FKRP (fukutin related protein), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; not provided
GGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCTGGACATGGTGGCGGGCACC
GGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTGCTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACCAGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAGGGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTGGTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGCGCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGCGACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTCTACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAGTTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAGGCGCCTAACAACTCCCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAACCCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGAAGCCCTGATAACCTCGCCTTTGTTTTTCGGGGGTCTGTCTGGATGTGGAGAAGCTCTGTGTGAGCGGTGAGGGGTGGAGGGATGTCGCGGAGAGGGGAAGGGGGAAACTGACCAAGAAAGAAATTCTAAGGAGAGCATGAGAGAAGGCTGGCATTGGCAGGAGGAGAGCACCAGGACGAGGATGGGAAGCGACCTCCAGATTTATCAAATGGTCATGCCCACTGGGAGCCGTGGATATGCGTGGGGACATCCTGGGTCATCTCAGTCATGGAGGGAGACGGGGATGTCACGCCGTCCCGCAGGGCCCAGCACAGCCCCAGACCCGAAAAAAGTGTTCTGCCCAAGATTCCGAGAGCCCTGCGCTCTAGGGCAGGGGCAGAGTTTTGGAAACAGTGCAGGCTCTGGAGCCAGACTGGCGAGATTCAAATCCTGGCTCTATCGCTTCGGAGCCAGGTGGGCCTGGGGGGGCGTCGCAGTCTCTCTGTGCCTCAGTTGCTTCCAGGATGCGGGACCCTTGGCTGCAGGGGTTGCTTCCGCCACTAGAGGGCGCGCCGGTCCCGCTCCTGGTGGCCCACTGTGGCTGCCCGGGCGACAGTACGCCCAGGGCCTGTGTTCCATAGCCATCTACTCTCTTGAGCCTTTGGACTTCTCTCCAAGCCCCTGTGGGAGGCGGACAGCAGTGACCACCTCCCCTTCTTTTGGACTGCGACCTCCTTCCCTCCTGGGAGAGCCCTGTGACCTGCATGCTACTCTTAACTGTTCTATTCAAGACTGAATAGAAGTATTTCAGTCTTGCAGAGGAGGAAATGCTCAGAGCTCCGAGGTGCGGCTGTGGTCGAGAACCGGGTGCTGGGCCGGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGCCCAGGAGTCTGAGACCAGCCTCGGCAACATGCCAAGACCCCGTCTCTATTTTTAAAAAAGAAAAAGAACCGACTTCTGAATCGCAGCTCCACTCATGACTAATACCTCATTATTTCAGCTGTCTGCACCTAATTCCCCACTTGCACGGCAGTGTAGACAATAACCATAGCTCACACTCACTGAGCACCTACTGGGTACCAGGCACCATTCTCAGTGTTTCACCTGGATCAACTAATGCGTCCCTCACCTCAGCCCTCTGAAGTGACAGCTGCTATTATTTTCATTACACAGATGAAAAAGCTGAGGCCAGAATCGTGAAGTCACTTGCTCAAGGTCAGGCAGCTTAGGAAGGGGCAGATCGGGGGCTTGAACCCAGGTGGTCAGGCTCTGGAGCCCACAATTGTCTTACCCACTATGCCCCTCTCTAGTCATGGTCCCCAAGAGGGGCTTGGAGACCCACTTAGCAGGTGAAAGCAATGGCAGCCTTCCTTATTTGATTATGCACCTAAGAATAAATGGTATTTGGGCATGTATTCCCAATATGTGTATATTTATTTATAAATATATACAGATACTATTATCTGTATGTTAGTAATAAAGCTTAAATTATTCCATTTTAAAATTATGAATATGAATAGGGTTTTTTTTATGTTTCTTGCCTCATCCCAATGACTTTTGCACACCCAGGTGTGAGCACCCAGCATTCAAGACCACGGGTTAAAAAAAAAAAAAAAAAGCTGGCCGGGCGTGGTGGCTCACGCCTGTGATCCCAACACTTTTGGGAGGCTGAGACAGGAGGAACACTTGAGCTCGGGAGTTCGAGACCAGCCTGAGCAATAGAGCAAGACTCTTGTCAATTAAAAATAATAAATAAAGCCAGGCATGGTGGCTCACGCCTATAATCCCAACACTTTGGGAGCCCAAGGCGGACGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCTGGACATGGTGGCGGGCACC
Task1_train_27415
This alteration in AP2S1 (adaptor related protein complex 2 subunit sigma 1) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Familial hypocalciuric hypercalcemia 3
GCACCCACGACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGATTTCATCATGTTGGTCAGGCTGGTCTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGCGCCCGGCCGGCAAAAACAACTTTTCTACGGCTCCCATCTGACTCATAGTAAGAGCCCAAGTCTTCCCTGCAGCCCTGCACCAAGAGATTACCCTGTTATCTTCTCTCTTTCATCTCCTCCCCTTCCTGGCTGCATTCCTGCTATCCCTGGAACGCCCTAAGTATTCTCCTGCCCCAGGGACTTTACACTTGCTGTTCCCTTGGCTTGAAATGTTCCTCTCAGACATTGGCTCCTTCCTCCCCGTCAAGTCCTTCAGGTCTTGGCTCCAATGTCACCTTTTCAGCAATGCCATCCTAACCAAACCATTTAAACCTGCATCCTGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCAGGCAGATCACTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCAACATGGTGAGACCCCATCGCTACCAAAAATACAAATATTAGCTGGGCTTGGTAGTGCACAAGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGGTAGCTTGAACATAGGAAGTCAAGGCTGCTGTGAGCCATGTTCGTGCCACTGCACTCCCGCCTGGGTGACAGAATGAGCTCCTGTTTCAAAAAAAATTTTTTAAAGAGGGACAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGATCAGGAGGTCAAGACCAGTCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAATCCCAGCTCCTAGGGAGGCTGAGGCAGAGAATAGCTTGAACCCTGGAGGAGGTTGCAGTGAGCCAAGATTGCCCCCATTGCACTCCAGCCTGGGTGACTGAGACAGACTCCATTTCAGAAAAAAAAAAAAAAAAAGGCAAAAAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGAGGGTGGATTACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACCAAAAATACAAAATTAGCCTGGTGTTGTGGTGCACGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAGTAATTAATTAATTAATTAATTAATTAATTCAATTCAATCAAATAAAAAATAAAGACAAGGTCTTGCTACATTGCCCAGGCTGGTCTTGAACACCTGGGCTCAAGCAATCCTCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTATTCTCTCTACTTTTCTGTGTTTGAACATTCTATAGGAAGTTTGAAAAACGCACCAGCAAAAAAAATTTGACCAAAAAAAAAAATTCTTTTTTAATCGTAGGCAAAAAAAATTAATAATAACAATGCAGAACAAAAAGGCAAAATATTAATACTGATTAAATCTGGGTAGTAGGTATACGAATCTCCAATCTACTTTTCTTTCATTGTACTAATCTGTATGTTTATGATTTTTCACAATGAAAAGTACAAGTAAAGGAAGGGAAGAAGCAAGCAAGCTCAAAGCAGGTTGAGTGAATGATATAGGATGGATAGAGGGTCCAAGGGGTTCTTGCAACTAGAAGCTGGGCAGGGAGTGGCGAAGTAGGGCACGAGGAAGCAGCGGGGTGCAGGAGGCATGGAGCGGGCGTCACCTCCACAAAGTTGGTGTGTTTGGCGTCTCGGACGGTGACCACGGCATGCACCTCCTCGATCAGCTTCTGTTTCTCATCATCATCAAACTGCATGTACCACTTGGCCAGGCGCGTCTTGCCTGCCCGGTTCTGGATGAGGATAAAGCGGATCTGGGGGCAGCAGGAGGAGAAGGAGGAAGTGAGAGAGGCAGAGAGGGCGGGTTGGGTGCTGCCCAACGGCCCCACCCATCCACCCAGAGGGGAGATAGGGCTCAGGGCCTCCCTGCTGCCTGACTTCCAGGGGTCTCGGCTGCTCCCCAGACCCAAGCCAGGCCGGCCTGGCCACACGCTTCATCCCGGGTCCCTCCAGCACCCCTGTGGAGTGACTTCCCTTCCACAAGTCTCCAACTCTGGAGTCAGCTCCAGGGCCCCGAGTCCCAGGCTCCTCCACCACCTCTTATCTCTCTCTGTTTTTTTTTTTTTTTTTTTTTGTAGAGACAGAGTCTTGCTACGTTGCTGGTCTCAAACTCCTGGACTCAAGCAATTCTCCCACCTCGGCCTCCCAAACTGCTGGGATCACAGGTGTGAGCCACTGTGCCCTGCTTTGTCTGCCCCTCTAGGCCTGTTTCCTCACCAGCAAAACAAGTCTCCCAAGAAGATTCATCTCACCAGGGTGGTTTTTTCATTATATTTTTTGTTATTTTTAAATTTTCAGACAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCGATGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTGTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCTGGAAAATGTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCGCCCGCCTCTGCCTCCCAAAGTGTGGGGTTATAGGCATGGGCCACCACGCCCAGTCAGCCAGGGTTTTTTTAAAGGTTAAAAAAAAAGTTTATAAACTTAGTTCGGTGGCTGGTAGGTGGTAGATACTCAATAAACATTTGAGGTTCAGACTCCTTTGGGCTAAGTCTCAGCTCTGCCACTTCTTTTTTTCTCTTTGCTTCCTAACTTTTTATAAAATTGAAATGTAATTCACACACCATAAAATCCATCCACTTAAAATGTAGACAGTTAAATGGTTTTTGGTATATTCACTTAGTATATATTCACAGTTGTGTAAAAATCACCACTTTTTTTTTTTTTTTTGAGACAGGTTCTAGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGCGATCCCGCCTCACTGCAACCTCCACCTCCTGGGTGCAGGCCTCCCAGGTAGCTGGGACCGCAGGTGCACACCACCACGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGGCCTCAAGCGATCCACCCACCTCATCCCCCCAAAGTGCTGCATCAGGCGTGAGCCACTGCACCCCACCTAATATCACCACTATCTAATTTATTATCTAATACCAGAACATTTTCATCATCTCCCCCCAAAAAACTCCCCACCCATTAGCAGTCACTCTCCGTTCCCCCAGGGCCTGGCAGCCACGAGTCTCCTTTCTGTCTCTGTGGATGTGTCTGTTCTGGACATTGTATATGAGTGGAATCATGCACTCTGTGGCTTTCGTGTCTGGCTTCCTTCACTCAGCGTGACGTTTTCCAGGCTCATCTGTGGGGTGGCAAGCGGCAGAGCTGCAATTCCTTTCCGTGGCTGAGTGATCCTCTGTTGGATGGATAAGGCCGTACTTCGGGCATTTGGGTTGTTTCTGCTTTAGGGCTATTATGAATAATACTGCTATGAACATTCGTGTATGAGTTTTCGTGTGGATGGATCATTTCTCTTGGGTATATACCTAAGAGTGAGATTGCTGGCTCATAGGGTAACGCTATGTTTAACTTTCTCAGGAATTGCTAAACCGTTTTCCAAAGCGTCTGCCACTTTCATGACTTAACTTTGGTGCCACTTTGGTGCCTGAGTTTACTGTGAGGAGTAAAGGATATTCCTGGCCGGTCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCA
GCACCCACGACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGATTTCATCATGTTGGTCAGGCTGGTCTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGCGCCCGGCCGGCAAAAACAACTTTTCTACGGCTCCCATCTGACTCATAGTAAGAGCCCAAGTCTTCCCTGCAGCCCTGCACCAAGAGATTACCCTGTTATCTTCTCTCTTTCATCTCCTCCCCTTCCTGGCTGCATTCCTGCTATCCCTGGAACGCCCTAAGTATTCTCCTGCCCCAGGGACTTTACACTTGCTGTTCCCTTGGCTTGAAATGTTCCTCTCAGACATTGGCTCCTTCCTCCCCGTCAAGTCCTTCAGGTCTTGGCTCCAATGTCACCTTTTCAGCAATGCCATCCTAACCAAACCATTTAAACCTGCATCCTGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCAGGCAGATCACTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCAACATGGTGAGACCCCATCGCTACCAAAAATACAAATATTAGCTGGGCTTGGTAGTGCACAAGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGGTAGCTTGAACATAGGAAGTCAAGGCTGCTGTGAGCCATGTTCGTGCCACTGCACTCCCGCCTGGGTGACAGAATGAGCTCCTGTTTCAAAAAAAATTTTTTAAAGAGGGACAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGATCAGGAGGTCAAGACCAGTCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAATCCCAGCTCCTAGGGAGGCTGAGGCAGAGAATAGCTTGAACCCTGGAGGAGGTTGCAGTGAGCCAAGATTGCCCCCATTGCACTCCAGCCTGGGTGACTGAGACAGACTCCATTTCAGAAAAAAAAAAAAAAAAAGGCAAAAAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGAGGGTGGATTACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACCAAAAATACAAAATTAGCCTGGTGTTGTGGTGCACGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAGTAATTAATTAATTAATTAATTAATTAATTCAATTCAATCAAATAAAAAATAAAGACAAGGTCTTGCTACATTGCCCAGGCTGGTCTTGAACACCTGGGCTCAAGCAATCCTCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTATTCTCTCTACTTTTCTGTGTTTGAACATTCTATAGGAAGTTTGAAAAACGCACCAGCAAAAAAAATTTGACCAAAAAAAAAAATTCTTTTTTAATCGTAGGCAAAAAAAATTAATAATAACAATGCAGAACAAAAAGGCAAAATATTAATACTGATTAAATCTGGGTAGTAGGTATACGAATCTCCAATCTACTTTTCTTTCATTGTACTAATCTGTATGTTTATGATTTTTCACAATGAAAAGTACAAGTAAAGGAAGGGAAGAAGCAAGCAAGCTCAAAGCAGGTTGAGTGAATGATATAGGATGGATAGAGGGTCCAAGGGGTTCTTGCAACTAGAAGCTGGGCAGGGAGTGGCGAAGTAGGGCACGAGGAAGCAGCGGGGTGCAGGAGGCATGGAGCGGGCGTCACCTCCACAAAGTTGGTGTGTTTGGCGTCTCGGACGGTGACCACGGCATGCACCTCCTCGATCAGCTTCTGTTTCTCATCATCATCAAACTGCATGTACCACTTGGCCAGGAGCGTCTTGCCTGCCCGGTTCTGGATGAGGATAAAGCGGATCTGGGGGCAGCAGGAGGAGAAGGAGGAAGTGAGAGAGGCAGAGAGGGCGGGTTGGGTGCTGCCCAACGGCCCCACCCATCCACCCAGAGGGGAGATAGGGCTCAGGGCCTCCCTGCTGCCTGACTTCCAGGGGTCTCGGCTGCTCCCCAGACCCAAGCCAGGCCGGCCTGGCCACACGCTTCATCCCGGGTCCCTCCAGCACCCCTGTGGAGTGACTTCCCTTCCACAAGTCTCCAACTCTGGAGTCAGCTCCAGGGCCCCGAGTCCCAGGCTCCTCCACCACCTCTTATCTCTCTCTGTTTTTTTTTTTTTTTTTTTTTGTAGAGACAGAGTCTTGCTACGTTGCTGGTCTCAAACTCCTGGACTCAAGCAATTCTCCCACCTCGGCCTCCCAAACTGCTGGGATCACAGGTGTGAGCCACTGTGCCCTGCTTTGTCTGCCCCTCTAGGCCTGTTTCCTCACCAGCAAAACAAGTCTCCCAAGAAGATTCATCTCACCAGGGTGGTTTTTTCATTATATTTTTTGTTATTTTTAAATTTTCAGACAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCGATGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTGTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCTGGAAAATGTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCGCCCGCCTCTGCCTCCCAAAGTGTGGGGTTATAGGCATGGGCCACCACGCCCAGTCAGCCAGGGTTTTTTTAAAGGTTAAAAAAAAAGTTTATAAACTTAGTTCGGTGGCTGGTAGGTGGTAGATACTCAATAAACATTTGAGGTTCAGACTCCTTTGGGCTAAGTCTCAGCTCTGCCACTTCTTTTTTTCTCTTTGCTTCCTAACTTTTTATAAAATTGAAATGTAATTCACACACCATAAAATCCATCCACTTAAAATGTAGACAGTTAAATGGTTTTTGGTATATTCACTTAGTATATATTCACAGTTGTGTAAAAATCACCACTTTTTTTTTTTTTTTTGAGACAGGTTCTAGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGCGATCCCGCCTCACTGCAACCTCCACCTCCTGGGTGCAGGCCTCCCAGGTAGCTGGGACCGCAGGTGCACACCACCACGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGGCCTCAAGCGATCCACCCACCTCATCCCCCCAAAGTGCTGCATCAGGCGTGAGCCACTGCACCCCACCTAATATCACCACTATCTAATTTATTATCTAATACCAGAACATTTTCATCATCTCCCCCCAAAAAACTCCCCACCCATTAGCAGTCACTCTCCGTTCCCCCAGGGCCTGGCAGCCACGAGTCTCCTTTCTGTCTCTGTGGATGTGTCTGTTCTGGACATTGTATATGAGTGGAATCATGCACTCTGTGGCTTTCGTGTCTGGCTTCCTTCACTCAGCGTGACGTTTTCCAGGCTCATCTGTGGGGTGGCAAGCGGCAGAGCTGCAATTCCTTTCCGTGGCTGAGTGATCCTCTGTTGGATGGATAAGGCCGTACTTCGGGCATTTGGGTTGTTTCTGCTTTAGGGCTATTATGAATAATACTGCTATGAACATTCGTGTATGAGTTTTCGTGTGGATGGATCATTTCTCTTGGGTATATACCTAAGAGTGAGATTGCTGGCTCATAGGGTAACGCTATGTTTAACTTTCTCAGGAATTGCTAAACCGTTTTCCAAAGCGTCTGCCACTTTCATGACTTAACTTTGGTGCCACTTTGGTGCCTGAGTTTACTGTGAGGAGTAAAGGATATTCCTGGCCGGTCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCA
Task1_train_27416
A variant was discovered on Chromosome 19, affecting AP2S1 (adaptor related protein complex 2 subunit sigma 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Familial hypocalciuric hypercalcemia 3
GCACCCACGACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGATTTCATCATGTTGGTCAGGCTGGTCTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGCGCCCGGCCGGCAAAAACAACTTTTCTACGGCTCCCATCTGACTCATAGTAAGAGCCCAAGTCTTCCCTGCAGCCCTGCACCAAGAGATTACCCTGTTATCTTCTCTCTTTCATCTCCTCCCCTTCCTGGCTGCATTCCTGCTATCCCTGGAACGCCCTAAGTATTCTCCTGCCCCAGGGACTTTACACTTGCTGTTCCCTTGGCTTGAAATGTTCCTCTCAGACATTGGCTCCTTCCTCCCCGTCAAGTCCTTCAGGTCTTGGCTCCAATGTCACCTTTTCAGCAATGCCATCCTAACCAAACCATTTAAACCTGCATCCTGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCAGGCAGATCACTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCAACATGGTGAGACCCCATCGCTACCAAAAATACAAATATTAGCTGGGCTTGGTAGTGCACAAGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGGTAGCTTGAACATAGGAAGTCAAGGCTGCTGTGAGCCATGTTCGTGCCACTGCACTCCCGCCTGGGTGACAGAATGAGCTCCTGTTTCAAAAAAAATTTTTTAAAGAGGGACAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGATCAGGAGGTCAAGACCAGTCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAATCCCAGCTCCTAGGGAGGCTGAGGCAGAGAATAGCTTGAACCCTGGAGGAGGTTGCAGTGAGCCAAGATTGCCCCCATTGCACTCCAGCCTGGGTGACTGAGACAGACTCCATTTCAGAAAAAAAAAAAAAAAAAGGCAAAAAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGAGGGTGGATTACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACCAAAAATACAAAATTAGCCTGGTGTTGTGGTGCACGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAGTAATTAATTAATTAATTAATTAATTAATTCAATTCAATCAAATAAAAAATAAAGACAAGGTCTTGCTACATTGCCCAGGCTGGTCTTGAACACCTGGGCTCAAGCAATCCTCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTATTCTCTCTACTTTTCTGTGTTTGAACATTCTATAGGAAGTTTGAAAAACGCACCAGCAAAAAAAATTTGACCAAAAAAAAAAATTCTTTTTTAATCGTAGGCAAAAAAAATTAATAATAACAATGCAGAACAAAAAGGCAAAATATTAATACTGATTAAATCTGGGTAGTAGGTATACGAATCTCCAATCTACTTTTCTTTCATTGTACTAATCTGTATGTTTATGATTTTTCACAATGAAAAGTACAAGTAAAGGAAGGGAAGAAGCAAGCAAGCTCAAAGCAGGTTGAGTGAATGATATAGGATGGATAGAGGGTCCAAGGGGTTCTTGCAACTAGAAGCTGGGCAGGGAGTGGCGAAGTAGGGCACGAGGAAGCAGCGGGGTGCAGGAGGCATGGAGCGGGCGTCACCTCCACAAAGTTGGTGTGTTTGGCGTCTCGGACGGTGACCACGGCATGCACCTCCTCGATCAGCTTCTGTTTCTCATCATCATCAAACTGCATGTACCACTTGGCCAGGCGCGTCTTGCCTGCCCGGTTCTGGATGAGGATAAAGCGGATCTGGGGGCAGCAGGAGGAGAAGGAGGAAGTGAGAGAGGCAGAGAGGGCGGGTTGGGTGCTGCCCAACGGCCCCACCCATCCACCCAGAGGGGAGATAGGGCTCAGGGCCTCCCTGCTGCCTGACTTCCAGGGGTCTCGGCTGCTCCCCAGACCCAAGCCAGGCCGGCCTGGCCACACGCTTCATCCCGGGTCCCTCCAGCACCCCTGTGGAGTGACTTCCCTTCCACAAGTCTCCAACTCTGGAGTCAGCTCCAGGGCCCCGAGTCCCAGGCTCCTCCACCACCTCTTATCTCTCTCTGTTTTTTTTTTTTTTTTTTTTTGTAGAGACAGAGTCTTGCTACGTTGCTGGTCTCAAACTCCTGGACTCAAGCAATTCTCCCACCTCGGCCTCCCAAACTGCTGGGATCACAGGTGTGAGCCACTGTGCCCTGCTTTGTCTGCCCCTCTAGGCCTGTTTCCTCACCAGCAAAACAAGTCTCCCAAGAAGATTCATCTCACCAGGGTGGTTTTTTCATTATATTTTTTGTTATTTTTAAATTTTCAGACAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCGATGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTGTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCTGGAAAATGTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCGCCCGCCTCTGCCTCCCAAAGTGTGGGGTTATAGGCATGGGCCACCACGCCCAGTCAGCCAGGGTTTTTTTAAAGGTTAAAAAAAAAGTTTATAAACTTAGTTCGGTGGCTGGTAGGTGGTAGATACTCAATAAACATTTGAGGTTCAGACTCCTTTGGGCTAAGTCTCAGCTCTGCCACTTCTTTTTTTCTCTTTGCTTCCTAACTTTTTATAAAATTGAAATGTAATTCACACACCATAAAATCCATCCACTTAAAATGTAGACAGTTAAATGGTTTTTGGTATATTCACTTAGTATATATTCACAGTTGTGTAAAAATCACCACTTTTTTTTTTTTTTTTGAGACAGGTTCTAGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGCGATCCCGCCTCACTGCAACCTCCACCTCCTGGGTGCAGGCCTCCCAGGTAGCTGGGACCGCAGGTGCACACCACCACGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGGCCTCAAGCGATCCACCCACCTCATCCCCCCAAAGTGCTGCATCAGGCGTGAGCCACTGCACCCCACCTAATATCACCACTATCTAATTTATTATCTAATACCAGAACATTTTCATCATCTCCCCCCAAAAAACTCCCCACCCATTAGCAGTCACTCTCCGTTCCCCCAGGGCCTGGCAGCCACGAGTCTCCTTTCTGTCTCTGTGGATGTGTCTGTTCTGGACATTGTATATGAGTGGAATCATGCACTCTGTGGCTTTCGTGTCTGGCTTCCTTCACTCAGCGTGACGTTTTCCAGGCTCATCTGTGGGGTGGCAAGCGGCAGAGCTGCAATTCCTTTCCGTGGCTGAGTGATCCTCTGTTGGATGGATAAGGCCGTACTTCGGGCATTTGGGTTGTTTCTGCTTTAGGGCTATTATGAATAATACTGCTATGAACATTCGTGTATGAGTTTTCGTGTGGATGGATCATTTCTCTTGGGTATATACCTAAGAGTGAGATTGCTGGCTCATAGGGTAACGCTATGTTTAACTTTCTCAGGAATTGCTAAACCGTTTTCCAAAGCGTCTGCCACTTTCATGACTTAACTTTGGTGCCACTTTGGTGCCTGAGTTTACTGTGAGGAGTAAAGGATATTCCTGGCCGGTCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCA
GCACCCACGACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGATTTCATCATGTTGGTCAGGCTGGTCTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGCGCCCGGCCGGCAAAAACAACTTTTCTACGGCTCCCATCTGACTCATAGTAAGAGCCCAAGTCTTCCCTGCAGCCCTGCACCAAGAGATTACCCTGTTATCTTCTCTCTTTCATCTCCTCCCCTTCCTGGCTGCATTCCTGCTATCCCTGGAACGCCCTAAGTATTCTCCTGCCCCAGGGACTTTACACTTGCTGTTCCCTTGGCTTGAAATGTTCCTCTCAGACATTGGCTCCTTCCTCCCCGTCAAGTCCTTCAGGTCTTGGCTCCAATGTCACCTTTTCAGCAATGCCATCCTAACCAAACCATTTAAACCTGCATCCTGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCAGGCAGATCACTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCAACATGGTGAGACCCCATCGCTACCAAAAATACAAATATTAGCTGGGCTTGGTAGTGCACAAGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGGTAGCTTGAACATAGGAAGTCAAGGCTGCTGTGAGCCATGTTCGTGCCACTGCACTCCCGCCTGGGTGACAGAATGAGCTCCTGTTTCAAAAAAAATTTTTTAAAGAGGGACAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGATCAGGAGGTCAAGACCAGTCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAATCCCAGCTCCTAGGGAGGCTGAGGCAGAGAATAGCTTGAACCCTGGAGGAGGTTGCAGTGAGCCAAGATTGCCCCCATTGCACTCCAGCCTGGGTGACTGAGACAGACTCCATTTCAGAAAAAAAAAAAAAAAAAGGCAAAAAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGAGGGTGGATTACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACCAAAAATACAAAATTAGCCTGGTGTTGTGGTGCACGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAGTAATTAATTAATTAATTAATTAATTAATTCAATTCAATCAAATAAAAAATAAAGACAAGGTCTTGCTACATTGCCCAGGCTGGTCTTGAACACCTGGGCTCAAGCAATCCTCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTATTCTCTCTACTTTTCTGTGTTTGAACATTCTATAGGAAGTTTGAAAAACGCACCAGCAAAAAAAATTTGACCAAAAAAAAAAATTCTTTTTTAATCGTAGGCAAAAAAAATTAATAATAACAATGCAGAACAAAAAGGCAAAATATTAATACTGATTAAATCTGGGTAGTAGGTATACGAATCTCCAATCTACTTTTCTTTCATTGTACTAATCTGTATGTTTATGATTTTTCACAATGAAAAGTACAAGTAAAGGAAGGGAAGAAGCAAGCAAGCTCAAAGCAGGTTGAGTGAATGATATAGGATGGATAGAGGGTCCAAGGGGTTCTTGCAACTAGAAGCTGGGCAGGGAGTGGCGAAGTAGGGCACGAGGAAGCAGCGGGGTGCAGGAGGCATGGAGCGGGCGTCACCTCCACAAAGTTGGTGTGTTTGGCGTCTCGGACGGTGACCACGGCATGCACCTCCTCGATCAGCTTCTGTTTCTCATCATCATCAAACTGCATGTACCACTTGGCCAGGTGCGTCTTGCCTGCCCGGTTCTGGATGAGGATAAAGCGGATCTGGGGGCAGCAGGAGGAGAAGGAGGAAGTGAGAGAGGCAGAGAGGGCGGGTTGGGTGCTGCCCAACGGCCCCACCCATCCACCCAGAGGGGAGATAGGGCTCAGGGCCTCCCTGCTGCCTGACTTCCAGGGGTCTCGGCTGCTCCCCAGACCCAAGCCAGGCCGGCCTGGCCACACGCTTCATCCCGGGTCCCTCCAGCACCCCTGTGGAGTGACTTCCCTTCCACAAGTCTCCAACTCTGGAGTCAGCTCCAGGGCCCCGAGTCCCAGGCTCCTCCACCACCTCTTATCTCTCTCTGTTTTTTTTTTTTTTTTTTTTTGTAGAGACAGAGTCTTGCTACGTTGCTGGTCTCAAACTCCTGGACTCAAGCAATTCTCCCACCTCGGCCTCCCAAACTGCTGGGATCACAGGTGTGAGCCACTGTGCCCTGCTTTGTCTGCCCCTCTAGGCCTGTTTCCTCACCAGCAAAACAAGTCTCCCAAGAAGATTCATCTCACCAGGGTGGTTTTTTCATTATATTTTTTGTTATTTTTAAATTTTCAGACAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCGATGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTGTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCTGGAAAATGTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCGCCCGCCTCTGCCTCCCAAAGTGTGGGGTTATAGGCATGGGCCACCACGCCCAGTCAGCCAGGGTTTTTTTAAAGGTTAAAAAAAAAGTTTATAAACTTAGTTCGGTGGCTGGTAGGTGGTAGATACTCAATAAACATTTGAGGTTCAGACTCCTTTGGGCTAAGTCTCAGCTCTGCCACTTCTTTTTTTCTCTTTGCTTCCTAACTTTTTATAAAATTGAAATGTAATTCACACACCATAAAATCCATCCACTTAAAATGTAGACAGTTAAATGGTTTTTGGTATATTCACTTAGTATATATTCACAGTTGTGTAAAAATCACCACTTTTTTTTTTTTTTTTGAGACAGGTTCTAGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGCGATCCCGCCTCACTGCAACCTCCACCTCCTGGGTGCAGGCCTCCCAGGTAGCTGGGACCGCAGGTGCACACCACCACGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGGCCTCAAGCGATCCACCCACCTCATCCCCCCAAAGTGCTGCATCAGGCGTGAGCCACTGCACCCCACCTAATATCACCACTATCTAATTTATTATCTAATACCAGAACATTTTCATCATCTCCCCCCAAAAAACTCCCCACCCATTAGCAGTCACTCTCCGTTCCCCCAGGGCCTGGCAGCCACGAGTCTCCTTTCTGTCTCTGTGGATGTGTCTGTTCTGGACATTGTATATGAGTGGAATCATGCACTCTGTGGCTTTCGTGTCTGGCTTCCTTCACTCAGCGTGACGTTTTCCAGGCTCATCTGTGGGGTGGCAAGCGGCAGAGCTGCAATTCCTTTCCGTGGCTGAGTGATCCTCTGTTGGATGGATAAGGCCGTACTTCGGGCATTTGGGTTGTTTCTGCTTTAGGGCTATTATGAATAATACTGCTATGAACATTCGTGTATGAGTTTTCGTGTGGATGGATCATTTCTCTTGGGTATATACCTAAGAGTGAGATTGCTGGCTCATAGGGTAACGCTATGTTTAACTTTCTCAGGAATTGCTAAACCGTTTTCCAAAGCGTCTGCCACTTTCATGACTTAACTTTGGTGCCACTTTGGTGCCTGAGTTTACTGTGAGGAGTAAAGGATATTCCTGGCCGGTCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCA
Task1_train_27417
The gene AP2S1 (adaptor related protein complex 2 subunit sigma 1) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Familial hypocalciuric hypercalcemia 3
CACCCACGACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGATTTCATCATGTTGGTCAGGCTGGTCTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGCGCCCGGCCGGCAAAAACAACTTTTCTACGGCTCCCATCTGACTCATAGTAAGAGCCCAAGTCTTCCCTGCAGCCCTGCACCAAGAGATTACCCTGTTATCTTCTCTCTTTCATCTCCTCCCCTTCCTGGCTGCATTCCTGCTATCCCTGGAACGCCCTAAGTATTCTCCTGCCCCAGGGACTTTACACTTGCTGTTCCCTTGGCTTGAAATGTTCCTCTCAGACATTGGCTCCTTCCTCCCCGTCAAGTCCTTCAGGTCTTGGCTCCAATGTCACCTTTTCAGCAATGCCATCCTAACCAAACCATTTAAACCTGCATCCTGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCAGGCAGATCACTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCAACATGGTGAGACCCCATCGCTACCAAAAATACAAATATTAGCTGGGCTTGGTAGTGCACAAGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGGTAGCTTGAACATAGGAAGTCAAGGCTGCTGTGAGCCATGTTCGTGCCACTGCACTCCCGCCTGGGTGACAGAATGAGCTCCTGTTTCAAAAAAAATTTTTTAAAGAGGGACAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGATCAGGAGGTCAAGACCAGTCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAATCCCAGCTCCTAGGGAGGCTGAGGCAGAGAATAGCTTGAACCCTGGAGGAGGTTGCAGTGAGCCAAGATTGCCCCCATTGCACTCCAGCCTGGGTGACTGAGACAGACTCCATTTCAGAAAAAAAAAAAAAAAAAGGCAAAAAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGAGGGTGGATTACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACCAAAAATACAAAATTAGCCTGGTGTTGTGGTGCACGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAGTAATTAATTAATTAATTAATTAATTAATTCAATTCAATCAAATAAAAAATAAAGACAAGGTCTTGCTACATTGCCCAGGCTGGTCTTGAACACCTGGGCTCAAGCAATCCTCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTATTCTCTCTACTTTTCTGTGTTTGAACATTCTATAGGAAGTTTGAAAAACGCACCAGCAAAAAAAATTTGACCAAAAAAAAAAATTCTTTTTTAATCGTAGGCAAAAAAAATTAATAATAACAATGCAGAACAAAAAGGCAAAATATTAATACTGATTAAATCTGGGTAGTAGGTATACGAATCTCCAATCTACTTTTCTTTCATTGTACTAATCTGTATGTTTATGATTTTTCACAATGAAAAGTACAAGTAAAGGAAGGGAAGAAGCAAGCAAGCTCAAAGCAGGTTGAGTGAATGATATAGGATGGATAGAGGGTCCAAGGGGTTCTTGCAACTAGAAGCTGGGCAGGGAGTGGCGAAGTAGGGCACGAGGAAGCAGCGGGGTGCAGGAGGCATGGAGCGGGCGTCACCTCCACAAAGTTGGTGTGTTTGGCGTCTCGGACGGTGACCACGGCATGCACCTCCTCGATCAGCTTCTGTTTCTCATCATCATCAAACTGCATGTACCACTTGGCCAGGCGCGTCTTGCCTGCCCGGTTCTGGATGAGGATAAAGCGGATCTGGGGGCAGCAGGAGGAGAAGGAGGAAGTGAGAGAGGCAGAGAGGGCGGGTTGGGTGCTGCCCAACGGCCCCACCCATCCACCCAGAGGGGAGATAGGGCTCAGGGCCTCCCTGCTGCCTGACTTCCAGGGGTCTCGGCTGCTCCCCAGACCCAAGCCAGGCCGGCCTGGCCACACGCTTCATCCCGGGTCCCTCCAGCACCCCTGTGGAGTGACTTCCCTTCCACAAGTCTCCAACTCTGGAGTCAGCTCCAGGGCCCCGAGTCCCAGGCTCCTCCACCACCTCTTATCTCTCTCTGTTTTTTTTTTTTTTTTTTTTTGTAGAGACAGAGTCTTGCTACGTTGCTGGTCTCAAACTCCTGGACTCAAGCAATTCTCCCACCTCGGCCTCCCAAACTGCTGGGATCACAGGTGTGAGCCACTGTGCCCTGCTTTGTCTGCCCCTCTAGGCCTGTTTCCTCACCAGCAAAACAAGTCTCCCAAGAAGATTCATCTCACCAGGGTGGTTTTTTCATTATATTTTTTGTTATTTTTAAATTTTCAGACAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCGATGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTGTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCTGGAAAATGTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCGCCCGCCTCTGCCTCCCAAAGTGTGGGGTTATAGGCATGGGCCACCACGCCCAGTCAGCCAGGGTTTTTTTAAAGGTTAAAAAAAAAGTTTATAAACTTAGTTCGGTGGCTGGTAGGTGGTAGATACTCAATAAACATTTGAGGTTCAGACTCCTTTGGGCTAAGTCTCAGCTCTGCCACTTCTTTTTTTCTCTTTGCTTCCTAACTTTTTATAAAATTGAAATGTAATTCACACACCATAAAATCCATCCACTTAAAATGTAGACAGTTAAATGGTTTTTGGTATATTCACTTAGTATATATTCACAGTTGTGTAAAAATCACCACTTTTTTTTTTTTTTTTGAGACAGGTTCTAGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGCGATCCCGCCTCACTGCAACCTCCACCTCCTGGGTGCAGGCCTCCCAGGTAGCTGGGACCGCAGGTGCACACCACCACGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGGCCTCAAGCGATCCACCCACCTCATCCCCCCAAAGTGCTGCATCAGGCGTGAGCCACTGCACCCCACCTAATATCACCACTATCTAATTTATTATCTAATACCAGAACATTTTCATCATCTCCCCCCAAAAAACTCCCCACCCATTAGCAGTCACTCTCCGTTCCCCCAGGGCCTGGCAGCCACGAGTCTCCTTTCTGTCTCTGTGGATGTGTCTGTTCTGGACATTGTATATGAGTGGAATCATGCACTCTGTGGCTTTCGTGTCTGGCTTCCTTCACTCAGCGTGACGTTTTCCAGGCTCATCTGTGGGGTGGCAAGCGGCAGAGCTGCAATTCCTTTCCGTGGCTGAGTGATCCTCTGTTGGATGGATAAGGCCGTACTTCGGGCATTTGGGTTGTTTCTGCTTTAGGGCTATTATGAATAATACTGCTATGAACATTCGTGTATGAGTTTTCGTGTGGATGGATCATTTCTCTTGGGTATATACCTAAGAGTGAGATTGCTGGCTCATAGGGTAACGCTATGTTTAACTTTCTCAGGAATTGCTAAACCGTTTTCCAAAGCGTCTGCCACTTTCATGACTTAACTTTGGTGCCACTTTGGTGCCTGAGTTTACTGTGAGGAGTAAAGGATATTCCTGGCCGGTCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCAC
CACCCACGACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGATTTCATCATGTTGGTCAGGCTGGTCTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGCGCCCGGCCGGCAAAAACAACTTTTCTACGGCTCCCATCTGACTCATAGTAAGAGCCCAAGTCTTCCCTGCAGCCCTGCACCAAGAGATTACCCTGTTATCTTCTCTCTTTCATCTCCTCCCCTTCCTGGCTGCATTCCTGCTATCCCTGGAACGCCCTAAGTATTCTCCTGCCCCAGGGACTTTACACTTGCTGTTCCCTTGGCTTGAAATGTTCCTCTCAGACATTGGCTCCTTCCTCCCCGTCAAGTCCTTCAGGTCTTGGCTCCAATGTCACCTTTTCAGCAATGCCATCCTAACCAAACCATTTAAACCTGCATCCTGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCAGGCAGATCACTTGAGCTCAAGAGTTTGAGACCAGCCTGGGCAACATGGTGAGACCCCATCGCTACCAAAAATACAAATATTAGCTGGGCTTGGTAGTGCACAAGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGGTAGCTTGAACATAGGAAGTCAAGGCTGCTGTGAGCCATGTTCGTGCCACTGCACTCCCGCCTGGGTGACAGAATGAGCTCCTGTTTCAAAAAAAATTTTTTAAAGAGGGACAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGATCAGGAGGTCAAGACCAGTCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAATCCCAGCTCCTAGGGAGGCTGAGGCAGAGAATAGCTTGAACCCTGGAGGAGGTTGCAGTGAGCCAAGATTGCCCCCATTGCACTCCAGCCTGGGTGACTGAGACAGACTCCATTTCAGAAAAAAAAAAAAAAAAAGGCAAAAAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGAGGGTGGATTACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACCAAAAATACAAAATTAGCCTGGTGTTGTGGTGCACGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAGTAATTAATTAATTAATTAATTAATTAATTCAATTCAATCAAATAAAAAATAAAGACAAGGTCTTGCTACATTGCCCAGGCTGGTCTTGAACACCTGGGCTCAAGCAATCCTCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTATTCTCTCTACTTTTCTGTGTTTGAACATTCTATAGGAAGTTTGAAAAACGCACCAGCAAAAAAAATTTGACCAAAAAAAAAAATTCTTTTTTAATCGTAGGCAAAAAAAATTAATAATAACAATGCAGAACAAAAAGGCAAAATATTAATACTGATTAAATCTGGGTAGTAGGTATACGAATCTCCAATCTACTTTTCTTTCATTGTACTAATCTGTATGTTTATGATTTTTCACAATGAAAAGTACAAGTAAAGGAAGGGAAGAAGCAAGCAAGCTCAAAGCAGGTTGAGTGAATGATATAGGATGGATAGAGGGTCCAAGGGGTTCTTGCAACTAGAAGCTGGGCAGGGAGTGGCGAAGTAGGGCACGAGGAAGCAGCGGGGTGCAGGAGGCATGGAGCGGGCGTCACCTCCACAAAGTTGGTGTGTTTGGCGTCTCGGACGGTGACCACGGCATGCACCTCCTCGATCAGCTTCTGTTTCTCATCATCATCAAACTGCATGTACCACTTGGCCAGGCACGTCTTGCCTGCCCGGTTCTGGATGAGGATAAAGCGGATCTGGGGGCAGCAGGAGGAGAAGGAGGAAGTGAGAGAGGCAGAGAGGGCGGGTTGGGTGCTGCCCAACGGCCCCACCCATCCACCCAGAGGGGAGATAGGGCTCAGGGCCTCCCTGCTGCCTGACTTCCAGGGGTCTCGGCTGCTCCCCAGACCCAAGCCAGGCCGGCCTGGCCACACGCTTCATCCCGGGTCCCTCCAGCACCCCTGTGGAGTGACTTCCCTTCCACAAGTCTCCAACTCTGGAGTCAGCTCCAGGGCCCCGAGTCCCAGGCTCCTCCACCACCTCTTATCTCTCTCTGTTTTTTTTTTTTTTTTTTTTTGTAGAGACAGAGTCTTGCTACGTTGCTGGTCTCAAACTCCTGGACTCAAGCAATTCTCCCACCTCGGCCTCCCAAACTGCTGGGATCACAGGTGTGAGCCACTGTGCCCTGCTTTGTCTGCCCCTCTAGGCCTGTTTCCTCACCAGCAAAACAAGTCTCCCAAGAAGATTCATCTCACCAGGGTGGTTTTTTCATTATATTTTTTGTTATTTTTAAATTTTCAGACAGTGTCTCATTCTGTCACCCAGGCTGGAGTGCGATGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTGTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCTGGAAAATGTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCGCCCGCCTCTGCCTCCCAAAGTGTGGGGTTATAGGCATGGGCCACCACGCCCAGTCAGCCAGGGTTTTTTTAAAGGTTAAAAAAAAAGTTTATAAACTTAGTTCGGTGGCTGGTAGGTGGTAGATACTCAATAAACATTTGAGGTTCAGACTCCTTTGGGCTAAGTCTCAGCTCTGCCACTTCTTTTTTTCTCTTTGCTTCCTAACTTTTTATAAAATTGAAATGTAATTCACACACCATAAAATCCATCCACTTAAAATGTAGACAGTTAAATGGTTTTTGGTATATTCACTTAGTATATATTCACAGTTGTGTAAAAATCACCACTTTTTTTTTTTTTTTTGAGACAGGTTCTAGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGCGATCCCGCCTCACTGCAACCTCCACCTCCTGGGTGCAGGCCTCCCAGGTAGCTGGGACCGCAGGTGCACACCACCACGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACAGTGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGGCCTCAAGCGATCCACCCACCTCATCCCCCCAAAGTGCTGCATCAGGCGTGAGCCACTGCACCCCACCTAATATCACCACTATCTAATTTATTATCTAATACCAGAACATTTTCATCATCTCCCCCCAAAAAACTCCCCACCCATTAGCAGTCACTCTCCGTTCCCCCAGGGCCTGGCAGCCACGAGTCTCCTTTCTGTCTCTGTGGATGTGTCTGTTCTGGACATTGTATATGAGTGGAATCATGCACTCTGTGGCTTTCGTGTCTGGCTTCCTTCACTCAGCGTGACGTTTTCCAGGCTCATCTGTGGGGTGGCAAGCGGCAGAGCTGCAATTCCTTTCCGTGGCTGAGTGATCCTCTGTTGGATGGATAAGGCCGTACTTCGGGCATTTGGGTTGTTTCTGCTTTAGGGCTATTATGAATAATACTGCTATGAACATTCGTGTATGAGTTTTCGTGTGGATGGATCATTTCTCTTGGGTATATACCTAAGAGTGAGATTGCTGGCTCATAGGGTAACGCTATGTTTAACTTTCTCAGGAATTGCTAAACCGTTTTCCAAAGCGTCTGCCACTTTCATGACTTAACTTTGGTGCCACTTTGGTGCCTGAGTTTACTGTGAGGAGTAAAGGATATTCCTGGCCGGTCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCAC
Task1_train_27418
A change on Chromosome 19 affects gene DHX34 (DExH-box helicase 34). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Neurodevelopmental disorder
CTGGAGGGGTGGACCGAGTCAGTGGACATGCAGCATCCTCGGGAAGAGCTCGCCCTCCGGACTGGGGATGCTGAGCTGGCTGCATGGGCATGGTGTTGGAGGCAGCCTACGGTTGTGGTTGGCCGGCACATCTGGAGCCAGACACCTCAGCCACAGATCCCAGCTCTGCCATTTCTGACAGCGTGGCCCCGGGTGTGTTACTGCTTGTCTCTGGGCCTCAGCTTCCCCTCGATAAAAAGAGAGGATAAAAATAGCACTTGCCAGCCGGGCGTGGTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGGCGAGGTGGGTGGATCACGAGGTCAGGAGATCGTGACCATCCTGGACAACATGGTAAAACTCCGTCTCTTCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAGTCGTTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCCGAGATTGAGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACTCAAAAAAAAAAAAAAAAAAAGATTTGGGTTTCTCCTGCGCCCACACAGTTCTGCAGCTTGTTTCATAGATACTGTTCTCCATCTGAGTGCAGACAGACCTGCTGTTAGGTCCTTTTCCATGGTTGTATCCATGGATTGAGAATAGAATAAAAGGGTTCCTGGTGTAATCCATTCTGTTTGGTTGGAGATGGGCAAGCTGAGGCCCAGAGGGGGCAGTCACCCAGCCGACACCTCCGGTACCATTTCTGGGGTCCCGGTGTTGGGGACCACAGATGCCCCGATTGCTCTGAGCATGGGTCCCGAGTTCTCTCTGGCTGCTAGAGCAGTGTTCAGGCTTCATTGGTCCCCAGATGCTTTGAGAATCTAATGGAAAGTGTGAGCCCTTTGCACCCACATGCACACATACAGACACACATGCACGCACAATCTCCTGTGTCCTCCATCGGTCAGGGCTCAGCAGGAAACAGAAGGTCCAACCAAATTGGGTCACTTGAGGAATGTTGACAAGATGTGGGCACGGGGAGGGCAGGGGTCTCAGATTTTATGGGTCACAGGCAGCTGGAGGGTCTGTTGGGTCCAGATGGCCAACCCCGCCGAGCCCCCTCCTCTCTCCACTTGGTCGTTCTGGGATGAGGCCCAGGACTTGGCATTCCCAGCATGTGCCTAGATGCCCCAGGGCTACACTCAGAAGCACTAGTGCAGGACGCCCACCAGGGCTGTGTGGGAAAGCAGGGCCCCCCAGACCCAAGGGGCAGGTGGGGCAGTCAGCAGAGCCTGGAGCCAGCTGTGGGAAAAGGCACTGGACGCCCGCACCTGCCTCCTCTTGCCCCTGGCCCCGGTGTTCCCTCCACTGACCAGCGAGGACAGCTCTCTCTCTGGAGCAGCGATCCATGCCCAGCACCATGCGAGGGGCTGTTTTCAGCCCCCTTTGGGCACTAGCAGCCCTGCCACTGGGAGGGTCCCCATTTCCATGAGTCCAGAGCCCACTGAGTCTGCCCTGAGGCCCTCACCCCTACCCACCTGCCCCTAGGAGCTGTTGGAGGACCACGGGCTGCTGGCTGGGGCCCAGGCCGCGCAGGTAGGGGACAGCTACAGTCGGTTGCAGCAGCGCCGGGAGCGCCGGGCCCTGCACCAGCTGAAACGCCAGCACGAGGAGGGCGCGGGGCGCAGGCGCAAGGTGCTGCGGCTGCAGGAGGAGCAGGACGGCGGCTCCAGTGACGAGGACAGGGCTGGCCCAGCCCCCCCAGGGGCCAGTGATGGCGTGGACATCCAGGTGGGCGCCATGGGCTGTGGGGTGTGGGGGTTTACCAAGGTGGGCCTTGGCCTCTCCTGGGGGGGTCCCAGGGGACATGGCCCTGTCCTCATTTCAGGAGCCGGGTTTCCATGGACGGTGCTTGGTCCCAGGTATCTGCAGAGCCTGGGGGTCTGCGGATCATGGTAGGAGCCCCTCAGGTCCCCTAAGACTCTGCCTCCCCGTGCTCCCCCCAGGATGTGAAGTTCAAGCTTCGGCATGACCTGGCGCAGCTGCAGGCCGCTGCCAGCTCAGCCCAGGACCTGAGCCGCGAGCAGCTGGCTCTGCTGAAGCTGGTGCTGGGCCGGGGCCTGTACCCACAGCTGGCCGTCCCCGACGCCTTCAACAGCAGCCGAAAGGACTCAGACCAGGTGGGGCCTGTTCTGCCCCATCCTATGTTTTGTCCTCCAACACACGAACCCTGAGTGCCTGTCCTGTGCCGGGAATGCAGTGGTGACTGAAACAACCCTGGTTCTGTCCCCATGGGGCTCACAACCCAGTGGGAGGACAGACCCATCCCCAGACAACCCAGAGTGGGCAGGGCTTGGGGAGTCAAGAGCACTATAGGAGCCCACAGGGGGCATCTGCCCCAGATTTGGAGGAGTCAGGGAGGGCTTCCTGGAGGAGGGAACCTGGGCCAGAGGGTGGAGGAGAGGCATCCTGGGCAGAGGAGAGAGCAGATAGGAGGGCTTGTGCTTTCTCTCTGTCCTCCGCAGATTTTCCACACGCAGGCCAAGCAGGGCGCCGTGCTGCACCCCACCTGCGTCTTCGCTGGCAGCCCCGAGGTGCTGCACGCACAGGAGCTGGAGGCCAGCAACTGCGACGGAAGCCGAGGTACAGTGAGCCCAGGCGGAAGGAACCCCCATCCGGGATGTGAGGGGCAGGGATACCGTGAACTCCCAGGCCCCTCTGGCTGGGGCTCCCACACCGGCCCAGGCTGGTATTGACGGGGGCCCACAGGAGGGGAAGTTCCAGGGCCAGGCCTCCCTGGGTAGCCTTGGGTGACTCACCCCTGCTGGGCCTCACCTTCCGCATGGTGGTGATAGTCAACCTAAGCCAGTGTGGCTGTGCCCAGAGAGTGAGCACCGGTCAGGGGGCCTGTCCTATGGACTCTGTGAGCTCCCAGGTGGGTCCTGCAGAGGGAGGCCCCCCTGGCACCCGTGTGCATGGAAGGGTGTCTCGCTGCAGGCATGGCTGCGTGCTGGGAGTCACATTCAGATTTGGCTGACCTTCTTGTCTGAGCCAGGCCACCAAAGCCATGCCGTAAGCATACTCTTTCTATCGATGTGTACTTTGACCGGGTGGGACAGGCGGGCTTCTGATGGGCCTGGGTGGGCCAGGGTGGGCCTGAGCGGTCCTCCTCAACCTTTCAGACGACAAGGACAAGATGAGCAGCAAACACCAGCTCCTCAGCTTCGTGTCCCTGCTGGAGACCAACAAGCCGTACCTGGTGAACTGCGTCCGCATCCCTGCCCTCCAGGTGGGCCTCTGCCCCACCCCGCCCCCATGCCCAGATATGAGAGCTGCGTTGCCCAGGGTGGTGGGTGGGGGCACCGCGTGGGCTTGGAGGGGCCACCTGGCACCTGGGCTGGCCGCAGGCGTCAGCCTTGGGCCGTTGCTGTGGCTGCTTTTTCTCTCATTCATGGACTTGCTCAACAGTTAACCTGCCAAGTGCCTGCTGGGTGCCAGGCGCTGTGCCAGGTGCCAAGGGCGCAGCAGGGAACCAGGCATGAAGCCCAGCCCCTGCCCTCTCGGGCTCTAGTGGCAGGGGACAGTGACAGCAGTAGCACAGTGATGCCCTGAGCGACGTGTGGGAGGGTGGACACAGGGTGTGGTACAAGATAAGGCCACCTGGTGTCCCCAGGCAGAGACCCAAAGAGGAGAGCGTGTGGATCTCGGGGCAGAGTGTTCCAGGCAGTGGGGTGGCCTGCACAGAGGCTCCGAGGCAGACATGTGCCTGGCGTGCAGTCAGCAAGGGAGAGCGTGTGGAGATGAGGCCAGAGAGGCGAGGGAGACAGGACCCTGGGGACTTCTCAGAGCTGGGACAGGGTCCCAGCCAGGAGGGCTGGCAGCTGCCAGGAGGGAGAGGAGGGTGCTGCCCCGGTGGAGGCTGAGGCCGAACTCAGATCATGGATGCCCTTGCATGGGCACCGGCAGCAGAGCCATGGGCCCCATGGCAGCCACTGCCCTGCCCCTAGTGCTCCTCGAGCGTCTTTGTGATCCTAGGCCTGGCCTCGGAGTCCTCACGCAGCCCTGTGGGTCTC
CTGGAGGGGTGGACCGAGTCAGTGGACATGCAGCATCCTCGGGAAGAGCTCGCCCTCCGGACTGGGGATGCTGAGCTGGCTGCATGGGCATGGTGTTGGAGGCAGCCTACGGTTGTGGTTGGCCGGCACATCTGGAGCCAGACACCTCAGCCACAGATCCCAGCTCTGCCATTTCTGACAGCGTGGCCCCGGGTGTGTTACTGCTTGTCTCTGGGCCTCAGCTTCCCCTCGATAAAAAGAGAGGATAAAAATAGCACTTGCCAGCCGGGCGTGGTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGGCGAGGTGGGTGGATCACGAGGTCAGGAGATCGTGACCATCCTGGACAACATGGTAAAACTCCGTCTCTTCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAGGAGAGTCGTTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCCGAGATTGAGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACTCAAAAAAAAAAAAAAAAAAAGATTTGGGTTTCTCCTGCGCCCACACAGTTCTGCAGCTTGTTTCATAGATACTGTTCTCCATCTGAGTGCAGACAGACCTGCTGTTAGGTCCTTTTCCATGGTTGTATCCATGGATTGAGAATAGAATAAAAGGGTTCCTGGTGTAATCCATTCTGTTTGGTTGGAGATGGGCAAGCTGAGGCCCAGAGGGGGCAGTCACCCAGCCGACACCTCCGGTACCATTTCTGGGGTCCCGGTGTTGGGGACCACAGATGCCCCGATTGCTCTGAGCATGGGTCCCGAGTTCTCTCTGGCTGCTAGAGCAGTGTTCAGGCTTCATTGGTCCCCAGATGCTTTGAGAATCTAATGGAAAGTGTGAGCCCTTTGCACCCACATGCACACATACAGACACACATGCACGCACAATCTCCTGTGTCCTCCATCGGTCAGGGCTCAGCAGGAAACAGAAGGTCCAACCAAATTGGGTCACTTGAGGAATGTTGACAAGATGTGGGCACGGGGAGGGCAGGGGTCTCAGATTTTATGGGTCACAGGCAGCTGGAGGGTCTGTTGGGTCCAGATGGCCAACCCCGCCGAGCCCCCTCCTCTCTCCACTTGGTCGTTCTGGGATGAGGCCCAGGACTTGGCATTCCCAGCATGTGCCTAGATGCCCCAGGGCTACACTCAGAAGCACTAGTGCAGGACGCCCACCAGGGCTGTGTGGGAAAGCAGGGCCCCCCAGACCCAAGGGGCAGGTGGGGCAGTCAGCAGAGCCTGGAGCCAGCTGTGGGAAAAGGCACTGGACGCCCGCACCTGCCTCCTCTTGCCCCTGGCCCCGGTGTTCCCTCCACTGACCAGCGAGGACAGCTCTCTCTCTGGAGCAGCGATCCATGCCCAGCACCATGCGAGGGGCTGTTTTCAGCCCCCTTTGGGCACTAGCAGCCCTGCCACTGGGAGGGTCCCCATTTCCATGAGTCCAGAGCCCACTGAGTCTGCCCTGAGGCCCTCACCCCTACCCACCTGCCCCTAGGAGCTGTTGGAGGACCACGGGCTGCTGGCTGGGGCCCAGGCCGCGCAGGTAGGGGACAGCTACAGTCGGTTGCAGCAGCGCCGGGAGCGCCGGGCCCTGCACCAGCTGAAACGCCAGCACGAGGAGGGCGCGGGGCGCAGGCGCAAGGTGCTGCGGCTGCAGGAGGAGCAGGACGGCGGCTCCAGTGACGAGGACAGGGCTGGCCCAGCCCCCCCAGGGGCCAGTGATGGCGTGGACATCCAGGTGGGCGCCATGGGCTGTGGGGTGTGGGGGTTTACCAAGGTGGGCCTTGGCCTCTCCTGGGGGGGTCCCAGGGGACATGGCCCTGTCCTCATTTCAGGAGCCGGGTTTCCATGGACGGTGCTTGGTCCCAGGTATCTGCAGAGCCTGGGGGTCTGCGGATCATGGTAGGAGCCCCTCAGGTCCCCTAAGACTCTGCCTCCCCGTGCTCCCCCCAGGATGTGAAGTTCAAGCTTCCGCATGACCTGGCGCAGCTGCAGGCCGCTGCCAGCTCAGCCCAGGACCTGAGCCGCGAGCAGCTGGCTCTGCTGAAGCTGGTGCTGGGCCGGGGCCTGTACCCACAGCTGGCCGTCCCCGACGCCTTCAACAGCAGCCGAAAGGACTCAGACCAGGTGGGGCCTGTTCTGCCCCATCCTATGTTTTGTCCTCCAACACACGAACCCTGAGTGCCTGTCCTGTGCCGGGAATGCAGTGGTGACTGAAACAACCCTGGTTCTGTCCCCATGGGGCTCACAACCCAGTGGGAGGACAGACCCATCCCCAGACAACCCAGAGTGGGCAGGGCTTGGGGAGTCAAGAGCACTATAGGAGCCCACAGGGGGCATCTGCCCCAGATTTGGAGGAGTCAGGGAGGGCTTCCTGGAGGAGGGAACCTGGGCCAGAGGGTGGAGGAGAGGCATCCTGGGCAGAGGAGAGAGCAGATAGGAGGGCTTGTGCTTTCTCTCTGTCCTCCGCAGATTTTCCACACGCAGGCCAAGCAGGGCGCCGTGCTGCACCCCACCTGCGTCTTCGCTGGCAGCCCCGAGGTGCTGCACGCACAGGAGCTGGAGGCCAGCAACTGCGACGGAAGCCGAGGTACAGTGAGCCCAGGCGGAAGGAACCCCCATCCGGGATGTGAGGGGCAGGGATACCGTGAACTCCCAGGCCCCTCTGGCTGGGGCTCCCACACCGGCCCAGGCTGGTATTGACGGGGGCCCACAGGAGGGGAAGTTCCAGGGCCAGGCCTCCCTGGGTAGCCTTGGGTGACTCACCCCTGCTGGGCCTCACCTTCCGCATGGTGGTGATAGTCAACCTAAGCCAGTGTGGCTGTGCCCAGAGAGTGAGCACCGGTCAGGGGGCCTGTCCTATGGACTCTGTGAGCTCCCAGGTGGGTCCTGCAGAGGGAGGCCCCCCTGGCACCCGTGTGCATGGAAGGGTGTCTCGCTGCAGGCATGGCTGCGTGCTGGGAGTCACATTCAGATTTGGCTGACCTTCTTGTCTGAGCCAGGCCACCAAAGCCATGCCGTAAGCATACTCTTTCTATCGATGTGTACTTTGACCGGGTGGGACAGGCGGGCTTCTGATGGGCCTGGGTGGGCCAGGGTGGGCCTGAGCGGTCCTCCTCAACCTTTCAGACGACAAGGACAAGATGAGCAGCAAACACCAGCTCCTCAGCTTCGTGTCCCTGCTGGAGACCAACAAGCCGTACCTGGTGAACTGCGTCCGCATCCCTGCCCTCCAGGTGGGCCTCTGCCCCACCCCGCCCCCATGCCCAGATATGAGAGCTGCGTTGCCCAGGGTGGTGGGTGGGGGCACCGCGTGGGCTTGGAGGGGCCACCTGGCACCTGGGCTGGCCGCAGGCGTCAGCCTTGGGCCGTTGCTGTGGCTGCTTTTTCTCTCATTCATGGACTTGCTCAACAGTTAACCTGCCAAGTGCCTGCTGGGTGCCAGGCGCTGTGCCAGGTGCCAAGGGCGCAGCAGGGAACCAGGCATGAAGCCCAGCCCCTGCCCTCTCGGGCTCTAGTGGCAGGGGACAGTGACAGCAGTAGCACAGTGATGCCCTGAGCGACGTGTGGGAGGGTGGACACAGGGTGTGGTACAAGATAAGGCCACCTGGTGTCCCCAGGCAGAGACCCAAAGAGGAGAGCGTGTGGATCTCGGGGCAGAGTGTTCCAGGCAGTGGGGTGGCCTGCACAGAGGCTCCGAGGCAGACATGTGCCTGGCGTGCAGTCAGCAAGGGAGAGCGTGTGGAGATGAGGCCAGAGAGGCGAGGGAGACAGGACCCTGGGGACTTCTCAGAGCTGGGACAGGGTCCCAGCCAGGAGGGCTGGCAGCTGCCAGGAGGGAGAGGAGGGTGCTGCCCCGGTGGAGGCTGAGGCCGAACTCAGATCATGGATGCCCTTGCATGGGCACCGGCAGCAGAGCCATGGGCCCCATGGCAGCCACTGCCCTGCCCCTAGTGCTCCTCGAGCGTCTTTGTGATCCTAGGCCTGGCCTCGGAGTCCTCACGCAGCCCTGTGGGTCTC
Task1_train_27419
Here is a variant affecting BICRA (BRD4 interacting chromatin remodeling complex associated protein) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Coffin-Siris syndrome 12
ATTGTTTGTGGGGCTTTCCACACATATGCCTGCAGATATTTTTCCATGCGTGTCCTGGGTTGCAGTCCAGGATAGCATGAAAAGCACTTAAAAAGCATTGAGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACCAAAAATACAAAATTAGCCGGGCATGGTGGCACACGCCTGTAATCCCGGCTGCTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACTCGTGGGCGGAGATTGTGGTGAGCCAGGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGGAAACTCCGTCTCAAAAAAAACCCAAAGAAACAAAAAGCATTGAACTCACAGTGCGGTTGGCACAGAAGTTCACAAATGGGAGCCACTGCTGATGTGAGCTTTACTCCACCAGAACTACGACTGCTTGTCAGAAACCTTTAGGGCCAGGTGTGTTTCAGAATTTCGAATTTCTCCAATTCTGGAAAAGTGGTGCCATATGTGTGGTGTGTGTCATGTCACACGCTTGCCTTTCGGCGGCCAAACTTGGGATGTCACATCATGTGGATAAATGGATCCCACCTAAAGTGCCATGTTGGTTCTGGTCAGGTTTTGCTGCCAACAGAGCTATGAAAACAGTCTCAGTTCTTAGAGCTTTTTGGGTTTTGTAATTACAGATAAGTGTTGTGGGCCTATATCACTATTTAAACAATAGTTGCTTATTTTTATTTATTTTTGTTTTGTTTTGTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGGGCATTGGTAGGATCTCAGCTCATTACAGCCTCCACCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCACGTGCCACCACGCCTGGCTAATTTTCGTATTTTTAGTAGAGATGGTGTTTCACCATGTTGGTCAGGCAGGTCTCAAACTCCTAGGCTCAAGTGATCCACCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTAGACTTTATTTTTGTTTTTTGGGCGTCAGCTGGTAGAGATTGGGGGACAGCACCCCCGCGGGCTTGGGCTGGATGGGCATGGGCGTGCGATGCAGGATCACGTTGGGCGCCGGGACCAGTGGTGACAAGCTGAGGCCTGGGGCCACCACCAGCGGCTTTCCTGAGGGTGCCCCGCTGGGTCTTACTCTTGTCACTTAGGCTGGAGTACAGTGACACAATCATAGCTCACCGTAGCCTGGAACTCCTGGGCTTAAGAGATCCTCTCACCTCAGGCTCCCAAAGTGCTAAGATTACAGGCGTGAGTCACTGTGGCCTTGAACAGTAGTTTTTTTTATTACATTTTACTGATGGGTACAGATGAAGAAACTGAGGTCAGATCAAGCACGCCCTAGGTTACACAGCTAAGCCTTGGCAGAGCTGGGATTTGATCCCGGGTCCAGCCACTTGCAGGTGGAATGTTCTTTTTTCTTTTTTTTTTCTTTTTTTCTTCTTTTTTTTTTTTTCTTCTCAAAGTCTTGCCCTGTCACCGAGGCTGGAGTGTAGTGAAGTGCTCGTAGCTCCACTCTGCAGCCTCAAACTCCTGGGCTCCAGTGATCCTCTCACCTCAGCCTCCCAAGTAGCTAAGACCACAGGCACATGCTGCCACCCCTGACTAATTTTTCTTTTTTAAAATTTTTTTCTCACTGCGTTGCCCAGGCTGGTCTCAAACTCTTTGGCTCAAGCCATCCATCCTCCTACCTCAGCCTCCCAAAGTGCTGAGATTACAAGCGTGAACCACCATGCCAGGAGGGAATGTTCTTTCTTGAACGTGGCTGCCCTGTCACCTCAGCATTCTTTGCGGCAGCTGTGGCCTAAGCGTAGCCCCTTGCTAACCTCAGCTCTTTCCTTCCCACCTTTCCCGGCCTGCAGCTCCATGTGCAAGAAGCTTCCGGCAACCACCTGAACCCAGAGCCCAACCAGCCGGCCCCCAGTGTGGACCTAGACTTCCTGGAAGATGACATCCTGGGCTCTCCTGCGACAGGGGGCGGCGGCGGGGGCAGTGGGGGCGCTGACCAGCCCTGTGACATCCTCCAGCAGAGCCTCCAAGAGGCCAACATCACGGAGCAGACGCTGGAGGCCGAGGCTGAGCTGGACCTGGGTCCCTTCCAGCTGCCCACCCTGCAGCCTGCGGATGGCGGGGCAGGCCCGACGGGCGCTGGAGGGGCAGCGGCCGTGGCTGCGGGGCCCCAAGCCCTCTTCCCAGGCAGCACCGACCTGCTGGGGCTGCAGGGCCCGCCTACCGTGCTGACCCACCAGGCCCTGGTGCCGCCCCAGGACGTGGTCAACAAGGCCCTGAGTGTGCAGCCCTTCCTGCAGCCTGTGGGCCTGGGCAATGTGACACTGCAGCCCATCCCGGGCCTCCAAGGCCTGCCCAATGGCAGCCCTGGGGGTGCCACGGCGGCCACACTGGGCCTGGCGCCCATCCAGGTGGTGGGCCAGCCCGTCATGGCGCTCAACACGCCCACCTCCCAGCTCCTGGCCAAGCAGGTGCCCGTCAGCGGCTACCTGGCCTCGGCGGCTGGCCCCTCGGAGCCCGTGACGCTGGCGTCGGCCGGTGTCTCGCCACAGGGGGCTGGCCTGGTCATCCAGAAGAACCTCTCGGCCGCTGTGGCCACCACGCTCAATGGGAACTCTGTGTTCGGAGGCGCGGGGGCCGCCTCGGCTCCCACCGGGACGCCCTCGGGACAGCCGCTGGCGGTGGCCCCAGGCCTCGGCTCGTCGCCACTGGTCCCGGCGCCCAACGTGATCCTGCATCGCACACCCACGCCCATCCAGCCCAAGCCCGCGGGGGTGCTGCCGCCCAAGCTCTACCAGCTGACGCCCAAGCCGTTTGCGCCCGCGGGCGCCACGCTCACCATCCAGGGCGAGCCGGGGGCGCTCCCGCAGCAGCCCAAGGCCCCGCAGAACCTGACGTTCATGGCGGCGGGGAAGGCGGGCCAGAACGTGGTGCTGTCGGGCTTCCCCGCGCCTGCGCTGCAAGCGAACGTCTTCAAGCAGCCACCGGCCACCACCACCGGAGCGGCCCCGCCGCAGCCCCCCGGGGCCCTGAGCAAACCCATGAGCGTCCACCTCCTGAACCAAGGCAGCAGCATCGTCATCCCCGCCCAGCACATGCTGCCGGGCCAGAACCAGTTCCTACTGCCTGGCGCCCCGGCGGTCCAGCTCCCGCAGCAGCTCTCAGCCCTGCCGGCCAACGTGGGCGGGCAGATCCTGGCGGCCGCTGCCCCCCACACAGGTGGACAGCTCATCGCGAACCCCATCCTCACAAACCAGAACCTGGCGGGCCCACTGAGCCTGGGCCCCGTGTTGGCCCCCCACTCCGGGGCCCACAGCGCGCACATCCTCTCCGCCGCTCCCATCCAGGTGGGCCAGCCTGCGCTCTTCCAGATGCCCGTGTCGCTGGCGGCGGGCAGCCTGCCCACGCAGAGCCAGCCAGCGCCCGCCGGGCCGGCCGCCACCACTGTCCTCCAGGGGGTCACCCTGCCCCCCAGCGCCGTGGCCATGCTCAACACCCCCGACGGCCTGGTGCAGCCGGCCACCCCTGCCGCTGCCACCGGGGAGGCCGCGCCTGTCCTCACGGTGCAGCCTGCCCCCCAGGCGCCCCCCGCGGTCAGCACACCCCTGCCCCTGGGCCTCCAGCAGCCGCAGGCGCAGCAGCCCCCGCAGGCCCCCACCCCACAGGCCGCCGCCCCGCCTCAGGCCACCACCCCCCAGCCCAGCCCTGGCCTGGCGTCTAGCCCGGAGAAGATCGTCCTGGGGCAGCCGCCCTCTGCCACCCCCACGGCCATCCTCACTCAGGACTCCCTGCAGATGTTCCTGCCCCAGGTAAGCAGGGCGGGGCAAGGGAGCAGGTACCGGAGGAGGCGGGTTTGGGAGGAAGAGGGGTCCTGGGGCGAGGCGCCAAGATCCAAAAGTGGATGCCACTGTGGCAGCTGGGGGGGGAAGGTCTCAGTCATGG
ATTGTTTGTGGGGCTTTCCACACATATGCCTGCAGATATTTTTCCATGCGTGTCCTGGGTTGCAGTCCAGGATAGCATGAAAAGCACTTAAAAAGCATTGAGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACCAAAAATACAAAATTAGCCGGGCATGGTGGCACACGCCTGTAATCCCGGCTGCTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACTCGTGGGCGGAGATTGTGGTGAGCCAGGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGGAAACTCCGTCTCAAAAAAAACCCAAAGAAACAAAAAGCATTGAACTCACAGTGCGGTTGGCACAGAAGTTCACAAATGGGAGCCACTGCTGATGTGAGCTTTACTCCACCAGAACTACGACTGCTTGTCAGAAACCTTTAGGGCCAGGTGTGTTTCAGAATTTCGAATTTCTCCAATTCTGGAAAAGTGGTGCCATATGTGTGGTGTGTGTCATGTCACACGCTTGCCTTTCGGCGGCCAAACTTGGGATGTCACATCATGTGGATAAATGGATCCCACCTAAAGTGCCATGTTGGTTCTGGTCAGGTTTTGCTGCCAACAGAGCTATGAAAACAGTCTCAGTTCTTAGAGCTTTTTGGGTTTTGTAATTACAGATAAGTGTTGTGGGCCTATATCACTATTTAAACAATAGTTGCTTATTTTTATTTATTTTTGTTTTGTTTTGTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGGGCATTGGTAGGATCTCAGCTCATTACAGCCTCCACCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCACGTGCCACCACGCCTGGCTAATTTTCGTATTTTTAGTAGAGATGGTGTTTCACCATGTTGGTCAGGCAGGTCTCAAACTCCTAGGCTCAAGTGATCCACCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTAGACTTTATTTTTGTTTTTTGGGCGTCAGCTGGTAGAGATTGGGGGACAGCACCCCCGCGGGCTTGGGCTGGATGGGCATGGGCGTGCGATGCAGGATCACGTTGGGCGCCGGGACCAGTGGTGACAAGCTGAGGCCTGGGGCCACCACCAGCGGCTTTCCTGAGGGTGCCCCGCTGGGTCTTACTCTTGTCACTTAGGCTGGAGTACAGTGACACAATCATAGCTCACCGTAGCCTGGAACTCCTGGGCTTAAGAGATCCTCTCACCTCAGGCTCCCAAAGTGCTAAGATTACAGGCGTGAGTCACTGTGGCCTTGAACAGTAGTTTTTTTTATTACATTTTACTGATGGGTACAGATGAAGAAACTGAGGTCAGATCAAGCACGCCCTAGGTTACACAGCTAAGCCTTGGCAGAGCTGGGATTTGATCCCGGGTCCAGCCACTTGCAGGTGGAATGTTCTTTTTTCTTTTTTTTTTCTTTTTTTCTTCTTTTTTTTTTTTTCTTCTCAAAGTCTTGCCCTGTCACCGAGGCTGGAGTGTAGTGAAGTGCTCGTAGCTCCACTCTGCAGCCTCAAACTCCTGGGCTCCAGTGATCCTCTCACCTCAGCCTCCCAAGTAGCTAAGACCACAGGCACATGCTGCCACCCCTGACTAATTTTTCTTTTTTAAAATTTTTTTCTCACTGCGTTGCCCAGGCTGGTCTCAAACTCTTTGGCTCAAGCCATCCATCCTCCTACCTCAGCCTCCCAAAGTGCTGAGATTACAAGCGTGAACCACCATGCCAGGAGGGAATGTTCTTTCTTGAACGTGGCTGCCCTGTCACCTCAGCATTCTTTGCGGCAGCTGTGGCCTAAGCGTAGCCCCTTGCTAACCTCAGCTCTTTCCTTCCCACCTTTCCCGGCCTGCAGCTCCATGTGCAAGAAGCTTCCGGCAACCACCTGAACCCAGACCCCAACCAGCCGGCCCCCAGTGTGGACCTAGACTTCCTGGAAGATGACATCCTGGGCTCTCCTGCGACAGGGGGCGGCGGCGGGGGCAGTGGGGGCGCTGACCAGCCCTGTGACATCCTCCAGCAGAGCCTCCAAGAGGCCAACATCACGGAGCAGACGCTGGAGGCCGAGGCTGAGCTGGACCTGGGTCCCTTCCAGCTGCCCACCCTGCAGCCTGCGGATGGCGGGGCAGGCCCGACGGGCGCTGGAGGGGCAGCGGCCGTGGCTGCGGGGCCCCAAGCCCTCTTCCCAGGCAGCACCGACCTGCTGGGGCTGCAGGGCCCGCCTACCGTGCTGACCCACCAGGCCCTGGTGCCGCCCCAGGACGTGGTCAACAAGGCCCTGAGTGTGCAGCCCTTCCTGCAGCCTGTGGGCCTGGGCAATGTGACACTGCAGCCCATCCCGGGCCTCCAAGGCCTGCCCAATGGCAGCCCTGGGGGTGCCACGGCGGCCACACTGGGCCTGGCGCCCATCCAGGTGGTGGGCCAGCCCGTCATGGCGCTCAACACGCCCACCTCCCAGCTCCTGGCCAAGCAGGTGCCCGTCAGCGGCTACCTGGCCTCGGCGGCTGGCCCCTCGGAGCCCGTGACGCTGGCGTCGGCCGGTGTCTCGCCACAGGGGGCTGGCCTGGTCATCCAGAAGAACCTCTCGGCCGCTGTGGCCACCACGCTCAATGGGAACTCTGTGTTCGGAGGCGCGGGGGCCGCCTCGGCTCCCACCGGGACGCCCTCGGGACAGCCGCTGGCGGTGGCCCCAGGCCTCGGCTCGTCGCCACTGGTCCCGGCGCCCAACGTGATCCTGCATCGCACACCCACGCCCATCCAGCCCAAGCCCGCGGGGGTGCTGCCGCCCAAGCTCTACCAGCTGACGCCCAAGCCGTTTGCGCCCGCGGGCGCCACGCTCACCATCCAGGGCGAGCCGGGGGCGCTCCCGCAGCAGCCCAAGGCCCCGCAGAACCTGACGTTCATGGCGGCGGGGAAGGCGGGCCAGAACGTGGTGCTGTCGGGCTTCCCCGCGCCTGCGCTGCAAGCGAACGTCTTCAAGCAGCCACCGGCCACCACCACCGGAGCGGCCCCGCCGCAGCCCCCCGGGGCCCTGAGCAAACCCATGAGCGTCCACCTCCTGAACCAAGGCAGCAGCATCGTCATCCCCGCCCAGCACATGCTGCCGGGCCAGAACCAGTTCCTACTGCCTGGCGCCCCGGCGGTCCAGCTCCCGCAGCAGCTCTCAGCCCTGCCGGCCAACGTGGGCGGGCAGATCCTGGCGGCCGCTGCCCCCCACACAGGTGGACAGCTCATCGCGAACCCCATCCTCACAAACCAGAACCTGGCGGGCCCACTGAGCCTGGGCCCCGTGTTGGCCCCCCACTCCGGGGCCCACAGCGCGCACATCCTCTCCGCCGCTCCCATCCAGGTGGGCCAGCCTGCGCTCTTCCAGATGCCCGTGTCGCTGGCGGCGGGCAGCCTGCCCACGCAGAGCCAGCCAGCGCCCGCCGGGCCGGCCGCCACCACTGTCCTCCAGGGGGTCACCCTGCCCCCCAGCGCCGTGGCCATGCTCAACACCCCCGACGGCCTGGTGCAGCCGGCCACCCCTGCCGCTGCCACCGGGGAGGCCGCGCCTGTCCTCACGGTGCAGCCTGCCCCCCAGGCGCCCCCCGCGGTCAGCACACCCCTGCCCCTGGGCCTCCAGCAGCCGCAGGCGCAGCAGCCCCCGCAGGCCCCCACCCCACAGGCCGCCGCCCCGCCTCAGGCCACCACCCCCCAGCCCAGCCCTGGCCTGGCGTCTAGCCCGGAGAAGATCGTCCTGGGGCAGCCGCCCTCTGCCACCCCCACGGCCATCCTCACTCAGGACTCCCTGCAGATGTTCCTGCCCCAGGTAAGCAGGGCGGGGCAAGGGAGCAGGTACCGGAGGAGGCGGGTTTGGGAGGAAGAGGGGTCCTGGGGCGAGGCGCCAAGATCCAAAAGTGGATGCCACTGTGGCAGCTGGGGGGGGAAGGTCTCAGTCATGG
Task1_train_27420
The gene CRX (cone-rod homeobox) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Leber congenital amaurosis 7
GAGTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGC
GAGTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCAGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGC
Task1_train_27421
This mutation is located in gene CRX (cone-rod homeobox) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Cone-rod dystrophy 2
GAGTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGC
GAGTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCAGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGC
Task1_train_27422
A change on Chromosome 19 affects gene CRX (cone-rod homeobox). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Cone-rod dystrophy 2
GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCAT
GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGTGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCAT
Task1_train_27423
Here’s a variant in CRX (cone-rod homeobox) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Cone-rod dystrophy 2
GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCAT
GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGTGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCAT
Task1_train_27424
This sequence change occurs on Chromosome 19, altering CRX (cone-rod homeobox). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Leber congenital amaurosis 7
GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCAT
GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGTGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCAT
Task1_train_27425
A genomic change on Chromosome 19 affects CRX (cone-rod homeobox). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Retinal dystrophy
GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCAT
GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGTGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCAT
Task1_train_27426
The gene CRX (cone-rod homeobox) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Cone-rod dystrophy
GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCAT
GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGTGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCAT
Task1_train_27427
A variant was discovered in gene CRX (cone-rod homeobox), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Retinitis pigmentosa
GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCAT
GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGTGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCAT
Task1_train_27428
A genetic alteration is present in CRX (cone-rod homeobox) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Leber congenital amaurosis 7
AGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGG
AGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGTGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGG
Task1_train_27429
This gene mutation involves CRX (cone-rod homeobox) on Chromosome 19. Is it associated with any clinical condition, or is it benign?
Pathogenic; Cone-rod dystrophy 2
AGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGG
AGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGTGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGG
Task1_train_27430
A change on Chromosome 19 affects gene CRX (cone-rod homeobox). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Retinal dystrophy
AGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAAT
AGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCACACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAAT
Task1_train_27431
A variant has been detected on Chromosome 19 in CRX (cone-rod homeobox). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Leber congenital amaurosis 7
ATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATAT
ATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTAAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATAT
Task1_train_27432
This alteration in CRX (cone-rod homeobox) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Cone-rod dystrophy 2
ATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATAT
ATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTAAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATAT
Task1_train_27433
Given a variant located on Chromosome 19 and affecting CRX (cone-rod homeobox), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Leber congenital amaurosis 7
TTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATA
TTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGCGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATA
Task1_train_27434
A variant affecting Chromosome 19, within the gene CRX (cone-rod homeobox), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Cone-rod dystrophy 2
TTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATA
TTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGCGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATA
Task1_train_27435
The variant affects gene CRX (cone-rod homeobox), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Retinal dystrophy
TTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGAGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATA
TTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGCCATACACCAGCCCTCTGGGTTCATCTGAAATGTATGTCACTTAGAAAAACATTAGCAGTCCTAGAAATTCAGGACAGAGGTTCCTTTTGGGGTGAGGAAGAGGGGATGTAATCTGGAAGGGGAATCAAGAGGAATTTTCATCTGTTACCAAAACTTTATTATTTATTTATTTTTCAGAGACAAGGTCTCACACTCTGTCACCCAGGCTGGAGTGCAGTGGTGGTGGTCACGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGTGAGCCATTGTGCCTAGGCCCGGGGGGCACTTTTTTTTTTTAATTTTATTTTTGAGACAGGGTCTCACTCTGTTGCCCACTCTGAAGTGCAATGGTGCAATCACAGCTCACTACAGCCTCGAACTCCTGGGCTCAAGCGATCCTTTTGCCTTGGCCTCCCAAATAGCTAGGATTACAGGTGCACGCCACCATGCCTGGCTAACTTTTTTAAGTTTTTGTAGATTTTGCAGGATCTGGATTATACAAAACATAGAAAAAATTATTATTATTTTTTTTTTTGTAGAGATTGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGTCCAAATAATCCGCCTGACTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGCCTGCAAAGCCTTATTTCTTTTTCTTTTTTTTTCTTTCGAGACACAGTTTAGACGGAGTTTCGCTCCTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCTTTGCAACTTTTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCCAATTTTTGTAAAGCCTTATTTTTAAGAGAAGTGAGTACTCAGTTATTTGTAGCATTATTCTTTAGCTCTTGTTTTTTTTTTTTTTTTTTTCAAGACCGAGCCTTGTTCTGTTACCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGGTTCCCCATGTTGGCCAGGATAGTCTCAATTTCTTGACCTTGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCCAGCCCAGACTTGCTACTTTTATAGGCTAGAAACGGTTGAATGTCAGCAATGTCATGCTTCAACTGATTATGTCTTAGTGCATAAGAAAGTTTAGAAGAGGGAAAAACGACTCGCACACCTCCTTGTTGAGCTAAAGCCTTGGGGTCAGGCATGAGCCACAGAGTGCCAGGCACACAGTGAGGTGTAGAAGGGCAGGGAATGTGTATTCCATCCTTAGTTTAGGCAGATGGCAACCAGGATGGAATTCTTGGCATCCCACCCAGCCTCAGGGCCTCACACCAGCCCATGTGGATGACCTGAGGGTCCTGTTTCCCATCCCACCCCAGGCGCCCCCAGGAAGCAGCGGCGGGAGCGCACCACCTTCACCCGGAGCCAACTGGAGGAGCTGGAGGCACTGTTTGCCAAGACCCAGTACCCAGACGTCTATGCCCGTGAGGAGGTGGCTCTGAAGATCAATCTGCCTGGGTCCAGGGTTCAGGTGGGGTGGTGGGTCCCTGGACCCCTCCCGACACTTCCTGTGATCTCAGGAGGCCTGCCCGGAACAAAGAGTGATGGGAGGAGGGAGAGATCACAGAGTGACAGCCAAAGTTATAAAGGGGACAATAATCCCTCTCCCCACCATCCCACTGACCGCCTCATGGCTCTCATTGCCCCTCGCTCCTCTCCAGCTGCGCTGGCCCTGACCTGCCTGCCAAGCACCCTCCTGCCTTGGGCCTTTGCACTCAGTTTCCTCTATCTGGAATGCTTATTTCCAGATAACCACACAGCAGGCCCCATCGCCTTGTTCGAGTCTTTGCTTATCCATCAGTGAGACCCACACTGAACACAGCATTTAAAATTGCATATGATTTACATATGGTATCTCAGAGTCTGTTTATTTAGACTCTGTCTCTCCCAACTAGAATGTCAATTCCACTGACGGACACTCAGAGTAGTAGAAAATGGTTAATACATGTTTATTAACTGACTGAATAGACGGATGGATGGATGGGTGGGTGGATGCATAGATGAATGTATGTATGTGTGACTGTAGGTGTGCGTGTGCATGTATGACTGGAAGCATGGATGAGTGTATGTATGTGTATATATGAGTGTCTGTGTGTATGATGGGATGGATACATGTATATATGTGTGTTTGCATGAACGCACATAGGTATGATTAGATAGATGATGAATGTATGCATGCATGATATATGTATACGTGGTGTATGTGCACATGTATGTATACATGCTTGCATGATTGGATGGATGGGTATATTTATTTATTTGAAATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGATTACAGGCGTGTGCCACCACACCGGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGCAATCCTACTGCCTCGGCCTTCCAGAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATGGGTGTATTTATGTATATATGAGTGTATGCATGTATATATGATTGGACTGATAAATAAAATGTGTGTGTTAGTATGATTGTATATAGGTATGACTGGATGGATTAATGTATATGTATGCATGATGTATGTGTGTATGATGTATGGGTGTATAATTGTATATTTGTATGTTTGTATAATCAGATGGATGGATGAACATGCATATGATGTATGTATGATTAGATAGATCCATTAATGCATGTATGATGTATGTGTGTATGACCTATGTTTATATAATTATATGTATAAGATGGATGAATCTATGTATGATGTATGTGTGTACAATTGTATGTATCATCAGATGGATAAGTCTATGTATGATGTATGTATGATCAGATGGACTGGTGAATGTGTGTATGACATATATATGTGTGAGGTATGTATATATGATCAGATGGATGTCTACATAATGTATGTGTGTATGGTGTATGTATGTATAATTGTATGCGTGTATGTTTGTATGCTGTAGGTATGATGTTACATATATGTGCATACACACGTGTGTATGATTGGAAGGATAAATGAAATATGTATGTTTGTGTGATTGTATGCACATATGATTAGATAGATTAGTGTGTAGCTATGTATGCTGTATGTGTGTACAATGTATGTGCCTATAATTGTATGTTTGTATGTCTGTATGATCAGATGGATGAATATGTATATGATGTATGTATGATCAGATAGCTGGATAAATGTATGCATGATGCATGTGTGTATGGTGTATGCATGTATAATTGTATGTATGTTTGCATTAGATGGATAAATGCCTGTAGGTATCATGTATGTACGCATACATGCATGATTGGATGACTGGATGGGTTTATTTGTGTATATATGAGTGTACGCATGTATATATAATTAGATGGATAAATGAAATGTGTGTCTGCATGATTGTATGTATGGATTAATGTGTATATA
Task1_train_27436
Located on Chromosome 19, this mutation impacts LIG1 (DNA ligase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Immunodeficiency 96
TGATCTCCTCCCAATAAACCCCGCACTGTGCCACACTGGCCTAGATGGGCCTCAGGCCTTTGCACCCCTGACCACAGACCCTGGCAGAGTGCAAGTGTGTGGCAGACGCCCACCTTGGGGATGCGGCTGATGATGTCCGGGTACTTCCCAGTGTTGTCTTCCTGATTCCTGCTGAAGATCTTCACCTCCCCGCCTTCCAGGGCGTGGATCTGTCACGATGGGAGAAGGGAGGGGAAATCAGCTGAGTCCCCTCATGTGGCCTCAGCTTTCTCTTCTGACCCCACCTGCACTGGTAGAAGGTTCTGGAAGCTCTGGAGGAGGAACTGGTGCAGAGACTTGAGCGAATCATCTCCTCAGTTCCAACAGCACCTCCCAGCCCTGCTCTGGAAGGCCCTACCATCATTTTCTTCTTCATTTCCAATCCCTACACCTCTCCCCATGTAGGCACATGCACCTTGCTGCATGTGGGTGCTGATTTGTTTAAATGTCATTATGCTCTAGATCTCATTCTGATTTTTTTTTGAGGCGGAGTCTCGCCCAGGCTGGAGAGCAGTGGTGCAATCTCTGCTCAATGCAACCTCCACCTCCCGGGTTCAAGAGAGCCTTCCGCCTCAGCCTCCCAAGGAGCTGGGATTACAGGCGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGCCAGGCTGGTCTTGAACTTTCGACCTCAGGTGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTCTATGTCTATTTATTTTAAGACAGTCCGGTCACAGCCCTTGAGCAGGGCGGCATATATAGCATCTTATATGTTTGTTATTATTTCCAGGAACAGTTGTCAAGAAATCATTGTCACTATCGTAAATCATCTTGTGTCTTTTTTCTCAACACTATTTTGGAGATCCATCTCTGATCCTGTGTCTGTTGGATCCACCCTTTTTTTTTTTTTTTTTTTAAAAGATGGAGTCTCACTCTTATCGTGGAGGCTGTAGTGTAGTGGCACGATCTTGGCTCACTGCACCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACGCCACCACACTGGCTCATTTTTGTGGTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCTCAGGGGTCCACTTCCTGTAACTGCCCCGAGCCCTGTGGCTCCCACCCACTTTGCCTGCTTACCTATCCCCAGGTGAGAAGGCCCCACACTTGCCAGGACAGAAGAGACACAACACATTCTTACAGACCCCAGGACCAAGGACGCCTGAGGCCCTGGATCACAGGACACACATGCACGTCACGGCATGAAGGGGTCATGTAGGCACCTCCCAGAACGGCTGTTAAAATGAACACACCCACCAGCAGCATCAGCGGAGCCCACGTTTCATGAGCTCCCACTATCATCGGTCAGGACTCTGGAGGATTGTAGCTTCGGATAAGCTGGTGAGGTAGTTAAGACCACACCCTAGAGGCCAGGCACGATGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCATGAGGTCAAGAGATCGAGACCATCTTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCACGGTAGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAAGCCAGGAGGTGGAGGTTACAGTGAGCCAAGATCATGCCAATGCACTCCAGCCTGGATGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACACACTCACTGCATGGAGGTGGATGCTGAAGCCCAGAGAGATGAGCGAGGGCTCGGCAGTCTGTGGCGCAGGCCGGCTTGAAGCTCAGGCCTCAGTGACCCCACACCCCTGCTCTTTGACGTTTTCCTGTCTGTGGAAGGGACATGTCCCACTCCCCATACCTGTGCCCTCTGCCCGTCATATTTGTATTCGCAGGTGAAAGCTGCCTCCTCAAAGCGTTTCAGGACCTCGCTGATGCCCCGGGTGGGATGGGCCAACATTGGTTTCAGGGGAATCCCTGGGAAAGGAGGAGAGTGAGTTAGAGGAGAGGGAAGGCAATGGATTAGAGGGGGAACATGGAGAGGAGAACTGCTAATGGGCCCCAGGACCATTCTGCTTTCTTGCTATTCAGTCACGAAGCCTCCCACGTTTTAGAAGGGGACCTAGCCTCCCACTGGGGACTACAGCCCCCGGCCTTCCTTCCAGGTGGGAAAGGCCATGTGATTGGAACCCACGCAGCATGTGCAATGTCTGGCTCACATCCTTGCAAGGAATCTGGTTGCCTCCCCTCCCTCCTCTGCGTCCCTCCTCCCACAATTAGAACAGGGAAGTGAGCCACATTTGATCACAGACATTGGGGTGACAACCTTTGGAGGGCAGAGGGACACAGGAACCTGGGTCCCCGGGTCATCCCTGGGACACAGCTGCACACCTGTACCTTCCCTGGCCACCTCCCTTGCTCTGGACACTTCTGTGTGACAGAAAGAAATTCTATCTGGCCTGACCCACTGCCTTCTGGCCCATTTTTATTTACTTATTTATTGTCTCACTCTGTCGCCCAGCTGGAGTGCAGTAGCGCGATGACGGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGATCACAGGCACACGCCACCACGCCCGGCTCCTGTTTATCACAGCAGTGTCACCTACACCCTATCTACTCCACAAGGGGAAATTCCAAGGAGAAAAGCAGTGGGTTTCAGCACCAGGGAGGAGCATTTGGTTTTGGTGGGGGAGAGGACTCTGCAAGTTCTGAGAGGGGCGCCTACGATGGCCACCCTCACGCCGACTCAGGAGGGAGCAGGGCTGCTGCCAGGCTGGTGAGCGCCCCTGGGGCCTGTACCTGGGCTCAGCTTGCAGTGCTCCGGGAGACGTTCCAGGCCGTGCTCCAGCAGCACGGGGATAATTCGGTCCAGGTCGGGAACCTCGCTGGGGTGGCGGGTGAGAACAAGATAGGGGAAGCCTTTCTAGAACTCACACAGTTTGGAAAGAGAGCTCGGCCTGCTCCCAGAAGCCTGGGCTCCTGGATGCCTCTGCCCACTGAGTCACCACCTGCCAAGCTCCTCTTGCCACCCTGTCTCTGTGCTCTCCCTTCGTGTCACTATCTGTTGCTTTGTCTCCCTTAGTCTGGCCTTGCCCCTGTTCCCTATCTGTCACCACGAGACCAGCGATTCTCTACTCGGCTACACAGGAGACCACTCAAGAATACAGTTTTTAAAAAAAGGTTTTTGGCCGGGCATGGTGGCTCATGCCTACAGGCATGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGCATCACTTGAGCCCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAATCCCATCTTTACTAAAAATATAAAAGTTAGCTGGGGGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCACTTGAACCCTGGAGGCGGAAGTTGCAGTGAGCTGAGATTGTGCTGCTGCACTCCAGCCTGGATGACAGGGCGAGACTCCGTCTCAAACAAAATAAAAATAGACAAAGGTTTTCAAGGCTAGGTTCCACCTACAAAGATTTTGATGTAGCTGGTGTGGGGTAGGCCTGAGGTCAGCAGCTGATAGAGCCCCACGTGCAGGCAGAGTTGAGCTTGCTGCCCGGGCCTGTTCACCACTCTCTGCTCAGCACCCAGTGGGGGGCCCTGGCCCAGAGCAGGTGCTCTGAGGCCATCTGTGGAACTGCCATCGGCCCTCCTGCCTCTGACATCCTCTCTGGGGCAGTCATGATCTTGGAGTCACCAGCCCTGGGTCAGCTGCTGGCCTAGGTCCCTCCACATGGCTCTCTCTGGAGCCCTCGTGGCCGCTCCACGGATGTCCTCTCCATGACTGTCAAGACCCTTCACCATGTGTCAGTCACCTGCTCCTC
TGATCTCCTCCCAATAAACCCCGCACTGTGCCACACTGGCCTAGATGGGCCTCAGGCCTTTGCACCCCTGACCACAGACCCTGGCAGAGTGCAAGTGTGTGGCAGACGCCCACCTTGGGGATGCGGCTGATGATGTCCGGGTACTTCCCAGTGTTGTCTTCCTGATTCCTGCTGAAGATCTTCACCTCCCCGCCTTCCAGGGCGTGGATCTGTCACGATGGGAGAAGGGAGGGGAAATCAGCTGAGTCCCCTCATGTGGCCTCAGCTTTCTCTTCTGACCCCACCTGCACTGGTAGAAGGTTCTGGAAGCTCTGGAGGAGGAACTGGTGCAGAGACTTGAGCGAATCATCTCCTCAGTTCCAACAGCACCTCCCAGCCCTGCTCTGGAAGGCCCTACCATCATTTTCTTCTTCATTTCCAATCCCTACACCTCTCCCCATGTAGGCACATGCACCTTGCTGCATGTGGGTGCTGATTTGTTTAAATGTCATTATGCTCTAGATCTCATTCTGATTTTTTTTTGAGGCGGAGTCTCGCCCAGGCTGGAGAGCAGTGGTGCAATCTCTGCTCAATGCAACCTCCACCTCCCGGGTTCAAGAGAGCCTTCCGCCTCAGCCTCCCAAGGAGCTGGGATTACAGGCGCCCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGCCAGGCTGGTCTTGAACTTTCGACCTCAGGTGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCTCTATGTCTATTTATTTTAAGACAGTCCGGTCACAGCCCTTGAGCAGGGCGGCATATATAGCATCTTATATGTTTGTTATTATTTCCAGGAACAGTTGTCAAGAAATCATTGTCACTATCGTAAATCATCTTGTGTCTTTTTTCTCAACACTATTTTGGAGATCCATCTCTGATCCTGTGTCTGTTGGATCCACCCTTTTTTTTTTTTTTTTTTTAAAAGATGGAGTCTCACTCTTATCGTGGAGGCTGTAGTGTAGTGGCACGATCTTGGCTCACTGCACCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACGCCACCACACTGGCTCATTTTTGTGGTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCTCAGGGGTCCACTTCCTGTAACTGCCCCGAGCCCTGTGGCTCCCACCCACTTTGCCTGCTTACCTATCCCCAGGTGAGAAGGCCCCACACTTGCCAGGACAGAAGAGACACAACACATTCTTACAGACCCCAGGACCAAGGACGCCTGAGGCCCTGGATCACAGGACACACATGCACGTCACGGCATGAAGGGGTCATGTAGGCACCTCCCAGAACGGCTGTTAAAATGAACACACCCACCAGCAGCATCAGCGGAGCCCACGTTTCATGAGCTCCCACTATCATCGGTCAGGACTCTGGAGGATTGTAGCTTCGGATAAGCTGGTGAGGTAGTTAAGACCACACCCTAGAGGCCAGGCACGATGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCATGAGGTCAAGAGATCGAGACCATCTTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCACGGTAGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAAGCCAGGAGGTGGAGGTTACAGTGAGCCAAGATCATGCCAATGCACTCCAGCCTGGATGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACACACTCACTGCATGGAGGTGGATGCTGAAGCCCAGAGAGATGAGCGAGGGCTCGGCAGTCTGTGGCGCAGGCCGGCTTGAAGCTCAGGCCTCAGTGACCCCACACCCCTGCTCTTTGACGTTTTCCTGTCTGTGGAAGGGACATGTCCCACTCCCCATACCTGTGCCCTCTGCCCGTCATATTTGTATTTGCAGGTGAAAGCTGCCTCCTCAAAGCGTTTCAGGACCTCGCTGATGCCCCGGGTGGGATGGGCCAACATTGGTTTCAGGGGAATCCCTGGGAAAGGAGGAGAGTGAGTTAGAGGAGAGGGAAGGCAATGGATTAGAGGGGGAACATGGAGAGGAGAACTGCTAATGGGCCCCAGGACCATTCTGCTTTCTTGCTATTCAGTCACGAAGCCTCCCACGTTTTAGAAGGGGACCTAGCCTCCCACTGGGGACTACAGCCCCCGGCCTTCCTTCCAGGTGGGAAAGGCCATGTGATTGGAACCCACGCAGCATGTGCAATGTCTGGCTCACATCCTTGCAAGGAATCTGGTTGCCTCCCCTCCCTCCTCTGCGTCCCTCCTCCCACAATTAGAACAGGGAAGTGAGCCACATTTGATCACAGACATTGGGGTGACAACCTTTGGAGGGCAGAGGGACACAGGAACCTGGGTCCCCGGGTCATCCCTGGGACACAGCTGCACACCTGTACCTTCCCTGGCCACCTCCCTTGCTCTGGACACTTCTGTGTGACAGAAAGAAATTCTATCTGGCCTGACCCACTGCCTTCTGGCCCATTTTTATTTACTTATTTATTGTCTCACTCTGTCGCCCAGCTGGAGTGCAGTAGCGCGATGACGGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGATCACAGGCACACGCCACCACGCCCGGCTCCTGTTTATCACAGCAGTGTCACCTACACCCTATCTACTCCACAAGGGGAAATTCCAAGGAGAAAAGCAGTGGGTTTCAGCACCAGGGAGGAGCATTTGGTTTTGGTGGGGGAGAGGACTCTGCAAGTTCTGAGAGGGGCGCCTACGATGGCCACCCTCACGCCGACTCAGGAGGGAGCAGGGCTGCTGCCAGGCTGGTGAGCGCCCCTGGGGCCTGTACCTGGGCTCAGCTTGCAGTGCTCCGGGAGACGTTCCAGGCCGTGCTCCAGCAGCACGGGGATAATTCGGTCCAGGTCGGGAACCTCGCTGGGGTGGCGGGTGAGAACAAGATAGGGGAAGCCTTTCTAGAACTCACACAGTTTGGAAAGAGAGCTCGGCCTGCTCCCAGAAGCCTGGGCTCCTGGATGCCTCTGCCCACTGAGTCACCACCTGCCAAGCTCCTCTTGCCACCCTGTCTCTGTGCTCTCCCTTCGTGTCACTATCTGTTGCTTTGTCTCCCTTAGTCTGGCCTTGCCCCTGTTCCCTATCTGTCACCACGAGACCAGCGATTCTCTACTCGGCTACACAGGAGACCACTCAAGAATACAGTTTTTAAAAAAAGGTTTTTGGCCGGGCATGGTGGCTCATGCCTACAGGCATGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGCATCACTTGAGCCCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAATCCCATCTTTACTAAAAATATAAAAGTTAGCTGGGGGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCAGGAGACTGAGGCAGGAGAATCACTTGAACCCTGGAGGCGGAAGTTGCAGTGAGCTGAGATTGTGCTGCTGCACTCCAGCCTGGATGACAGGGCGAGACTCCGTCTCAAACAAAATAAAAATAGACAAAGGTTTTCAAGGCTAGGTTCCACCTACAAAGATTTTGATGTAGCTGGTGTGGGGTAGGCCTGAGGTCAGCAGCTGATAGAGCCCCACGTGCAGGCAGAGTTGAGCTTGCTGCCCGGGCCTGTTCACCACTCTCTGCTCAGCACCCAGTGGGGGGCCCTGGCCCAGAGCAGGTGCTCTGAGGCCATCTGTGGAACTGCCATCGGCCCTCCTGCCTCTGACATCCTCTCTGGGGCAGTCATGATCTTGGAGTCACCAGCCCTGGGTCAGCTGCTGGCCTAGGTCCCTCCACATGGCTCTCTCTGGAGCCCTCGTGGCCGCTCCACGGATGTCCTCTCCATGACTGTCAAGACCCTTCACCATGTGTCAGTCACCTGCTCCTC
Task1_train_27437
The gene ODAD1 (outer dynein arm docking complex subunit 1) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Primary ciliary dyskinesia
CTGGATGGATAGATATGGGACAGATGAAGGAATAGACCCTGGATAGATAGATGGATATGGGACAGATGGAGGTATAGAACCTGGATGGAGAGATAGATATAGGACAGATGAAGGAATAGATCCTGGATGAATGATGGATACAGGACAGTTGGAGGAATAGACCCTGGATGGATGGATGGATGGGTGGATGAATGGATGGATGGATGGATGAATGGATGGATGGATATAGGACAGATGGAGGGGTAGGTCCTGGATGGGTAGATAGATATAGAACAGATGAAGGAACAGACCCTGGATAGATAGATGGATATGGGACAGAATGGAGGGATAGACCCTGGATGGAGAGATAGATATAGGACAGATGAAGGAATAGATCCTGAATGGATGATGGATATAGGACAGTTGAAGGGATAGACTCTGAATGGATGGATGGATATAGGATAATTGGAGAGACAGACGTTGAATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATGGGACAGTTGGAGGGATCAACCCTAGATGGATGGATGGATGCATTGATAGATGGATGGATGGATGGGTGTAGGACAGTTGGAGGGACAGATGATGGATGGATAGATGGACATGGGACAGTTGGAGGGATAGACCCTGGTTGGAAAGATGGACAGATATGGGGCAACTGATAAGCAAGTGAACCAGGTTGTCCATGCAATGCCTCCAAGCCCCGCGGGCTGATGGTGTCCTTCCAAGTGGAGAAGCCAGGCTCGGGAGGGGGCGCCCATGGGTGCTCACCAGCCTTGAGCTTCTCCAGCTGTCCCCGCACATCCTGGAAGCGGGCCTCAAGGCGCTCAGCCTCCGAGTGCACCTTGTCCATGCGCTGCTGCAACACCTTCTGCTGCTGCTCCTGCAGCAAATGCTGGTCATCCTTGCTGGCACGTGCGCTCACCAAAGCCTCCTGCATCTGTGGGGACAGGGCTGAATGCTGGGCCAGATGGCAGCCTCGGGAGTTGGGGGTGTGGAGCTAGGAAGAAGCAGGAGGCAGGCTGAGGGAGGGAAGGGGGCGGGGAGGCCGGGAGGAGAGGAGGAGATGGAGAGGGCAGGCCTCACTCACCTCCTTGATCTCTTCCTGCACATGCTCCAGCTCCAAGTTCTGCTCGTTGATGAAGTTGAACTCAGCAAAGTTGCGCTCCTCGACTGGGAGAGTTGGGCAAGGCGGGGCCCAGAGAGAGGGAGACAGAGAAACAGAGACAGAGAGAACAGAGACAGAGAGGCATACAGAAGGCCAAAGAAAGTGAAGATGAGGAAGGCCACACAGAAACCAAGGCAGAGAGACGAACAGAGAGGAGTCACAGAGACAAAGAGGTGTGGGAAGATACGGCAGGTGGGACACAGAAATACACAGCAAGGCAGAGAGGGAAAGCCAGAGACTCGGCAATAGCAAGGGAGATGGGGAGATGCAGGCGGGGAGAACGGTAGATATGGGTAAGGAGAGAAACAGAGAGGGACAGGGTTGAGGGAAGGATGTGGAGAGTGACCCCAGGCCCAGGAGTTAGGAGGGGGTGGGGAGGGGCAGAGACAGGGCCACGGTAAGACGCCAGTGGACGCGGGCGGCGGGTCCCAGGCATGACGCCTTGTTCCTCCAGCACAGATGGAGGAGTTCCCCAGGGCCAGAGCTGAGGCCAGCCTGCACTGGACTCAGGGGGTGCCGGGGTCCCGGGCCTCCTCCCTCCACCCAGGGCCCCACTCACTCTCCAGATACTTCTGCACCAACAGGTCAGGGTCACTCTCCCCCATCAGCTGGGACAGTTTATTCAGGGCGTCCTCGTAGCAAAGCACCAGCCTCTCCTGGGAGGTCTTCCAGACGCCCTCGGCCACCTCCCCGGCTAGGGGAAGAGAGAACAGCAGGTCGGCCTCCTGGGTGGCCTCCAACACAGAGACCTCCTGGGTGAGGGGGAGCGAAGTGTGGTCCCACCTGGGGCACGAAGGTGTGCTGCAGGTGCCCCAGGGGCGGCCAGGCCCTTGAGATGCAAAGGCAGCAGCCCCAGCCTCACCCTGCTTTTCACGCTTCTCCAGGACATCGGGATCCGGCTGCCGGTCGTTGTTCTTGAGCTTGAGGAAGTGGTGCAGCTGCTCCAGGTGCAAGATCTGCCGCTGCAGGACCTGCGCCTCCATCTCGCTCTGGGCCTCCTCTTTCTCCGCGCGCTCCCGCAGCAAGCCCATCTTGGCCTTCGCCTCCTCCCTGCGGGGGTCAGCCGGGGTCAGGATGACTGGAGGCTGGACTGGGGTCGGCCTGGGGTCCTGGGGATGGGCGGGGTCAGCCAGAGGTTGTGGGGGGTGAGGTGGAGTCAGCTGGTGTCCCAGATGGGCAGGGCCAGCCTGGGGTCACAGGAATGGGGCTGAATCAGGTTGCAGTTATCCTGTGGTCACAAAAAGCAGAGAACTGGCTGGGCACGGTGGCTCAGGCTGTAATCCCAGCACTTTGGGAGGCAGGAGGATCACCTGCAGTCAGGAGTTTGAAACCAGCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCCAGACCTGGTGGTGCATGCCTGTAATCCCAACTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGTGAAGATTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGGCAAGAGCGAAACTGTCTCAAAAAAAAAAAAAAGACAGAAGCAAGAACTTCAAAAGAGTGCGACATCATATTAGAAACACAACACAAAACTCTCGGTGTGCTGCTGGCTCACGTTCTTTCAGCAGCCTGCTCTCCTCATCCTTCAGAGTGTACTGTCTCTCTCTAGGTAAACTCTCTGTTCTCTATTTGCCTTCAGTAAATTCTCTTTGTTGGCTAAATCAGTCTCTTGGCAGAATTCTTTCTCCCAAGTAAGACTAAAAAGCGAGGATTCCTGTACTTCCCGGTGGCAGGTAGTTTTCCTTTTGGAGTGATGGAAATATTTCAGATCTAGACAGAAGTGGTGCGGTTGCACGGCCCCGTGAATGTACTAAATGCTGCTACATTCTACGCTTTAAAATGGTGAATTTTGCCACGTTTGTTTTAACAGAGAGAGAGAAAGAGAGAAATCACAGAGACCCTAAGGCCGACCCAGGCCACAGCTGATGTCGATCAGGGACCATGAGAAAACAGAAGCCAGAGAAGAACTTAGTAGAAGGTAAGAAAGCATTTGGAGCAAAAGAAGAGGGCGAAGCTGAGAAAGAGACAGGGATGGAGTGAGAGAGAGAGCATGGAGCTCATGAGAGCCCCAGAGAGGGAGAGAGAAGCCAACACCTAAAGCAGCTTCAGCTCCTCAACTCCTTACAGTGTGCCTCTATCTGAAGGTGGCCCGAGAGGATCTCTGTCCCTTGCAACCAATGCTGACGAATAACAAATTCGCCAGATGCTTCCAGGAACCCTGCTGCACTATATATGTGCTAGATGCGCTTTTTTTTTTTTTTTCTCCTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCCCCCAGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGACACCCGCCACCATGCCCAGCTAAGTTTTTATATTTTTGGTAGAGATGGGATTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGAGCTCAAGCAATCTGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCTCGCCCAGCCAGTAGATACATTCTTATGTGCTAGATGGGGTCAGTAGAGGTTAATTTACATGCCCAAGAAAAAGAACAGGGCCGGTGGGGTGCAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTAGATCATGAGCTCAGGAGTTCAAGACCAGCCTGGTCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGCCACGGTGCCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCTGGGAGGTAGAGGTTGCA
CTGGATGGATAGATATGGGACAGATGAAGGAATAGACCCTGGATAGATAGATGGATATGGGACAGATGGAGGTATAGAACCTGGATGGAGAGATAGATATAGGACAGATGAAGGAATAGATCCTGGATGAATGATGGATACAGGACAGTTGGAGGAATAGACCCTGGATGGATGGATGGATGGGTGGATGAATGGATGGATGGATGGATGAATGGATGGATGGATATAGGACAGATGGAGGGGTAGGTCCTGGATGGGTAGATAGATATAGAACAGATGAAGGAACAGACCCTGGATAGATAGATGGATATGGGACAGAATGGAGGGATAGACCCTGGATGGAGAGATAGATATAGGACAGATGAAGGAATAGATCCTGAATGGATGATGGATATAGGACAGTTGAAGGGATAGACTCTGAATGGATGGATGGATATAGGATAATTGGAGAGACAGACGTTGAATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATGGGACAGTTGGAGGGATCAACCCTAGATGGATGGATGGATGCATTGATAGATGGATGGATGGATGGGTGTAGGACAGTTGGAGGGACAGATGATGGATGGATAGATGGACATGGGACAGTTGGAGGGATAGACCCTGGTTGGAAAGATGGACAGATATGGGGCAACTGATAAGCAAGTGAACCAGGTTGTCCATGCAATGCCTCCAAGCCCCGCGGGCTGATGGTGTCCTTCCAAGTGGAGAAGCCAGGCTCGGGAGGGGGCGCCCATGGGTGCTCACCAGCCTTGAGCTTCTCCAGCTGTCCCCGCACATCCTGGAAGCGGGCCTCAAGGCGCTCAGCCTCCGAGTGCACCTTGTCCATGCGCTGCTGCAACACCTTCTGCTGCTGCTCCTGCAGCAAATGCTGGTCATCCTTGCTGGCACGTGCGCTCACCAAAGCCTCCTGCATCTGTGGGGACAGGGCTGAATGCTGGGCCAGATGGCAGCCTCGGGAGTTGGGGGTGTGGAGCTAGGAAGAAGCAGGAGGCAGGCTGAGGGAGGGAAGGGGGCGGGGAGGCCGGGAGGAGAGGAGGAGATGGAGAGGGCAGGCCTCACTCACCTCCTTGATCTCTTCCTGCACATGCTCCAGCTCCAAGTTCTGCTCGTTGATGAAGTTGAACTCAGCAAAGTTGCGCTCCTCGACTGGGAGAGTTGGGCAAGGCGGGGCCCAGAGAGAGGGAGACAGAGAAACAGAGACAGAGAGAACAGAGACAGAGAGGCATACAGAAGGCCAAAGAAAGTGAAGATGAGGAAGGCCACACAGAAACCAAGGCAGAGAGACGAACAGAGAGGAGTCACAGAGACAAAGAGGTGTGGGAAGATACGGCAGGTGGGACACAGAAATACACAGCAAGGCAGAGAGGGAAAGCCAGAGACTCGGCAATAGCAAGGGAGATGGGGAGATGCAGGCGGGGAGAACGGTAGATATGGGTAAGGAGAGAAACAGAGAGGGACAGGGTTGAGGGAAGGATGTGGAGAGTGACCCCAGGCCCAGGAGTTAGGAGGGGGTGGGGAGGGGCAGAGACAGGGCCACGGTAAGACGCCAGTGGACGCGGGCGGCGGGTCCCAGGCATGACGCCTTGTTCCTCCAGCACAGATGGAGGAGTTCCCCAGGGCCAGAGCTGAGGCCAGCCTGCACTGGACTCAGGGGGTGCCGGGGTCCCGGGCCTCCTCCCTCCACCCAGGGCCCCACTCACTCTCCAGATACTTCTGCACCAACAGGTCAGGGTCACTCTCCCCCATCAGCTGGGACAGTTTATTCAGGGCGTCCTCGTAGCAAAGCACCAGCCTCTCCTGGGAGGTCTTCCAGACGCCCTCGGCCACCTCCCCGGCTAGGGGAAGAGAGAACAGCAGGTCGGCCTCCTGGGTGGCCTCCAACACAGAGACCTCCTGGGTGAGGGGGAGCGAAGTGTGGTCCCACCTGGGGCACGAAGGTGTGCTGCAGGTGCCCCAGGGGCGGCCAGGCCCTTGAGATGCAAAGGCAGCAGCCCCAGCCTCACTCTGCTTTTCACGCTTCTCCAGGACATCGGGATCCGGCTGCCGGTCGTTGTTCTTGAGCTTGAGGAAGTGGTGCAGCTGCTCCAGGTGCAAGATCTGCCGCTGCAGGACCTGCGCCTCCATCTCGCTCTGGGCCTCCTCTTTCTCCGCGCGCTCCCGCAGCAAGCCCATCTTGGCCTTCGCCTCCTCCCTGCGGGGGTCAGCCGGGGTCAGGATGACTGGAGGCTGGACTGGGGTCGGCCTGGGGTCCTGGGGATGGGCGGGGTCAGCCAGAGGTTGTGGGGGGTGAGGTGGAGTCAGCTGGTGTCCCAGATGGGCAGGGCCAGCCTGGGGTCACAGGAATGGGGCTGAATCAGGTTGCAGTTATCCTGTGGTCACAAAAAGCAGAGAACTGGCTGGGCACGGTGGCTCAGGCTGTAATCCCAGCACTTTGGGAGGCAGGAGGATCACCTGCAGTCAGGAGTTTGAAACCAGCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCCAGACCTGGTGGTGCATGCCTGTAATCCCAACTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGTGAAGATTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGGCAAGAGCGAAACTGTCTCAAAAAAAAAAAAAAGACAGAAGCAAGAACTTCAAAAGAGTGCGACATCATATTAGAAACACAACACAAAACTCTCGGTGTGCTGCTGGCTCACGTTCTTTCAGCAGCCTGCTCTCCTCATCCTTCAGAGTGTACTGTCTCTCTCTAGGTAAACTCTCTGTTCTCTATTTGCCTTCAGTAAATTCTCTTTGTTGGCTAAATCAGTCTCTTGGCAGAATTCTTTCTCCCAAGTAAGACTAAAAAGCGAGGATTCCTGTACTTCCCGGTGGCAGGTAGTTTTCCTTTTGGAGTGATGGAAATATTTCAGATCTAGACAGAAGTGGTGCGGTTGCACGGCCCCGTGAATGTACTAAATGCTGCTACATTCTACGCTTTAAAATGGTGAATTTTGCCACGTTTGTTTTAACAGAGAGAGAGAAAGAGAGAAATCACAGAGACCCTAAGGCCGACCCAGGCCACAGCTGATGTCGATCAGGGACCATGAGAAAACAGAAGCCAGAGAAGAACTTAGTAGAAGGTAAGAAAGCATTTGGAGCAAAAGAAGAGGGCGAAGCTGAGAAAGAGACAGGGATGGAGTGAGAGAGAGAGCATGGAGCTCATGAGAGCCCCAGAGAGGGAGAGAGAAGCCAACACCTAAAGCAGCTTCAGCTCCTCAACTCCTTACAGTGTGCCTCTATCTGAAGGTGGCCCGAGAGGATCTCTGTCCCTTGCAACCAATGCTGACGAATAACAAATTCGCCAGATGCTTCCAGGAACCCTGCTGCACTATATATGTGCTAGATGCGCTTTTTTTTTTTTTTTCTCCTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCCCCCAGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGACACCCGCCACCATGCCCAGCTAAGTTTTTATATTTTTGGTAGAGATGGGATTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGAGCTCAAGCAATCTGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCTCGCCCAGCCAGTAGATACATTCTTATGTGCTAGATGGGGTCAGTAGAGGTTAATTTACATGCCCAAGAAAAAGAACAGGGCCGGTGGGGTGCAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTAGATCATGAGCTCAGGAGTTCAAGACCAGCCTGGTCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGCCACGGTGCCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCTGGGAGGTAGAGGTTGCA
Task1_train_27438
The variant affects gene ODAD1 (outer dynein arm docking complex subunit 1), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Primary ciliary dyskinesia 20
CTGGATGGATAGATATGGGACAGATGAAGGAATAGACCCTGGATAGATAGATGGATATGGGACAGATGGAGGTATAGAACCTGGATGGAGAGATAGATATAGGACAGATGAAGGAATAGATCCTGGATGAATGATGGATACAGGACAGTTGGAGGAATAGACCCTGGATGGATGGATGGATGGGTGGATGAATGGATGGATGGATGGATGAATGGATGGATGGATATAGGACAGATGGAGGGGTAGGTCCTGGATGGGTAGATAGATATAGAACAGATGAAGGAACAGACCCTGGATAGATAGATGGATATGGGACAGAATGGAGGGATAGACCCTGGATGGAGAGATAGATATAGGACAGATGAAGGAATAGATCCTGAATGGATGATGGATATAGGACAGTTGAAGGGATAGACTCTGAATGGATGGATGGATATAGGATAATTGGAGAGACAGACGTTGAATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATGGGACAGTTGGAGGGATCAACCCTAGATGGATGGATGGATGCATTGATAGATGGATGGATGGATGGGTGTAGGACAGTTGGAGGGACAGATGATGGATGGATAGATGGACATGGGACAGTTGGAGGGATAGACCCTGGTTGGAAAGATGGACAGATATGGGGCAACTGATAAGCAAGTGAACCAGGTTGTCCATGCAATGCCTCCAAGCCCCGCGGGCTGATGGTGTCCTTCCAAGTGGAGAAGCCAGGCTCGGGAGGGGGCGCCCATGGGTGCTCACCAGCCTTGAGCTTCTCCAGCTGTCCCCGCACATCCTGGAAGCGGGCCTCAAGGCGCTCAGCCTCCGAGTGCACCTTGTCCATGCGCTGCTGCAACACCTTCTGCTGCTGCTCCTGCAGCAAATGCTGGTCATCCTTGCTGGCACGTGCGCTCACCAAAGCCTCCTGCATCTGTGGGGACAGGGCTGAATGCTGGGCCAGATGGCAGCCTCGGGAGTTGGGGGTGTGGAGCTAGGAAGAAGCAGGAGGCAGGCTGAGGGAGGGAAGGGGGCGGGGAGGCCGGGAGGAGAGGAGGAGATGGAGAGGGCAGGCCTCACTCACCTCCTTGATCTCTTCCTGCACATGCTCCAGCTCCAAGTTCTGCTCGTTGATGAAGTTGAACTCAGCAAAGTTGCGCTCCTCGACTGGGAGAGTTGGGCAAGGCGGGGCCCAGAGAGAGGGAGACAGAGAAACAGAGACAGAGAGAACAGAGACAGAGAGGCATACAGAAGGCCAAAGAAAGTGAAGATGAGGAAGGCCACACAGAAACCAAGGCAGAGAGACGAACAGAGAGGAGTCACAGAGACAAAGAGGTGTGGGAAGATACGGCAGGTGGGACACAGAAATACACAGCAAGGCAGAGAGGGAAAGCCAGAGACTCGGCAATAGCAAGGGAGATGGGGAGATGCAGGCGGGGAGAACGGTAGATATGGGTAAGGAGAGAAACAGAGAGGGACAGGGTTGAGGGAAGGATGTGGAGAGTGACCCCAGGCCCAGGAGTTAGGAGGGGGTGGGGAGGGGCAGAGACAGGGCCACGGTAAGACGCCAGTGGACGCGGGCGGCGGGTCCCAGGCATGACGCCTTGTTCCTCCAGCACAGATGGAGGAGTTCCCCAGGGCCAGAGCTGAGGCCAGCCTGCACTGGACTCAGGGGGTGCCGGGGTCCCGGGCCTCCTCCCTCCACCCAGGGCCCCACTCACTCTCCAGATACTTCTGCACCAACAGGTCAGGGTCACTCTCCCCCATCAGCTGGGACAGTTTATTCAGGGCGTCCTCGTAGCAAAGCACCAGCCTCTCCTGGGAGGTCTTCCAGACGCCCTCGGCCACCTCCCCGGCTAGGGGAAGAGAGAACAGCAGGTCGGCCTCCTGGGTGGCCTCCAACACAGAGACCTCCTGGGTGAGGGGGAGCGAAGTGTGGTCCCACCTGGGGCACGAAGGTGTGCTGCAGGTGCCCCAGGGGCGGCCAGGCCCTTGAGATGCAAAGGCAGCAGCCCCAGCCTCACCCTGCTTTTCACGCTTCTCCAGGACATCGGGATCCGGCTGCCGGTCGTTGTTCTTGAGCTTGAGGAAGTGGTGCAGCTGCTCCAGGTGCAAGATCTGCCGCTGCAGGACCTGCGCCTCCATCTCGCTCTGGGCCTCCTCTTTCTCCGCGCGCTCCCGCAGCAAGCCCATCTTGGCCTTCGCCTCCTCCCTGCGGGGGTCAGCCGGGGTCAGGATGACTGGAGGCTGGACTGGGGTCGGCCTGGGGTCCTGGGGATGGGCGGGGTCAGCCAGAGGTTGTGGGGGGTGAGGTGGAGTCAGCTGGTGTCCCAGATGGGCAGGGCCAGCCTGGGGTCACAGGAATGGGGCTGAATCAGGTTGCAGTTATCCTGTGGTCACAAAAAGCAGAGAACTGGCTGGGCACGGTGGCTCAGGCTGTAATCCCAGCACTTTGGGAGGCAGGAGGATCACCTGCAGTCAGGAGTTTGAAACCAGCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCCAGACCTGGTGGTGCATGCCTGTAATCCCAACTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGTGAAGATTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGGCAAGAGCGAAACTGTCTCAAAAAAAAAAAAAAGACAGAAGCAAGAACTTCAAAAGAGTGCGACATCATATTAGAAACACAACACAAAACTCTCGGTGTGCTGCTGGCTCACGTTCTTTCAGCAGCCTGCTCTCCTCATCCTTCAGAGTGTACTGTCTCTCTCTAGGTAAACTCTCTGTTCTCTATTTGCCTTCAGTAAATTCTCTTTGTTGGCTAAATCAGTCTCTTGGCAGAATTCTTTCTCCCAAGTAAGACTAAAAAGCGAGGATTCCTGTACTTCCCGGTGGCAGGTAGTTTTCCTTTTGGAGTGATGGAAATATTTCAGATCTAGACAGAAGTGGTGCGGTTGCACGGCCCCGTGAATGTACTAAATGCTGCTACATTCTACGCTTTAAAATGGTGAATTTTGCCACGTTTGTTTTAACAGAGAGAGAGAAAGAGAGAAATCACAGAGACCCTAAGGCCGACCCAGGCCACAGCTGATGTCGATCAGGGACCATGAGAAAACAGAAGCCAGAGAAGAACTTAGTAGAAGGTAAGAAAGCATTTGGAGCAAAAGAAGAGGGCGAAGCTGAGAAAGAGACAGGGATGGAGTGAGAGAGAGAGCATGGAGCTCATGAGAGCCCCAGAGAGGGAGAGAGAAGCCAACACCTAAAGCAGCTTCAGCTCCTCAACTCCTTACAGTGTGCCTCTATCTGAAGGTGGCCCGAGAGGATCTCTGTCCCTTGCAACCAATGCTGACGAATAACAAATTCGCCAGATGCTTCCAGGAACCCTGCTGCACTATATATGTGCTAGATGCGCTTTTTTTTTTTTTTTCTCCTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCCCCCAGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGACACCCGCCACCATGCCCAGCTAAGTTTTTATATTTTTGGTAGAGATGGGATTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGAGCTCAAGCAATCTGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCTCGCCCAGCCAGTAGATACATTCTTATGTGCTAGATGGGGTCAGTAGAGGTTAATTTACATGCCCAAGAAAAAGAACAGGGCCGGTGGGGTGCAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTAGATCATGAGCTCAGGAGTTCAAGACCAGCCTGGTCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGCCACGGTGCCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCTGGGAGGTAGAGGTTGCA
CTGGATGGATAGATATGGGACAGATGAAGGAATAGACCCTGGATAGATAGATGGATATGGGACAGATGGAGGTATAGAACCTGGATGGAGAGATAGATATAGGACAGATGAAGGAATAGATCCTGGATGAATGATGGATACAGGACAGTTGGAGGAATAGACCCTGGATGGATGGATGGATGGGTGGATGAATGGATGGATGGATGGATGAATGGATGGATGGATATAGGACAGATGGAGGGGTAGGTCCTGGATGGGTAGATAGATATAGAACAGATGAAGGAACAGACCCTGGATAGATAGATGGATATGGGACAGAATGGAGGGATAGACCCTGGATGGAGAGATAGATATAGGACAGATGAAGGAATAGATCCTGAATGGATGATGGATATAGGACAGTTGAAGGGATAGACTCTGAATGGATGGATGGATATAGGATAATTGGAGAGACAGACGTTGAATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATATGGGACAGTTGGAGGGATCAACCCTAGATGGATGGATGGATGCATTGATAGATGGATGGATGGATGGGTGTAGGACAGTTGGAGGGACAGATGATGGATGGATAGATGGACATGGGACAGTTGGAGGGATAGACCCTGGTTGGAAAGATGGACAGATATGGGGCAACTGATAAGCAAGTGAACCAGGTTGTCCATGCAATGCCTCCAAGCCCCGCGGGCTGATGGTGTCCTTCCAAGTGGAGAAGCCAGGCTCGGGAGGGGGCGCCCATGGGTGCTCACCAGCCTTGAGCTTCTCCAGCTGTCCCCGCACATCCTGGAAGCGGGCCTCAAGGCGCTCAGCCTCCGAGTGCACCTTGTCCATGCGCTGCTGCAACACCTTCTGCTGCTGCTCCTGCAGCAAATGCTGGTCATCCTTGCTGGCACGTGCGCTCACCAAAGCCTCCTGCATCTGTGGGGACAGGGCTGAATGCTGGGCCAGATGGCAGCCTCGGGAGTTGGGGGTGTGGAGCTAGGAAGAAGCAGGAGGCAGGCTGAGGGAGGGAAGGGGGCGGGGAGGCCGGGAGGAGAGGAGGAGATGGAGAGGGCAGGCCTCACTCACCTCCTTGATCTCTTCCTGCACATGCTCCAGCTCCAAGTTCTGCTCGTTGATGAAGTTGAACTCAGCAAAGTTGCGCTCCTCGACTGGGAGAGTTGGGCAAGGCGGGGCCCAGAGAGAGGGAGACAGAGAAACAGAGACAGAGAGAACAGAGACAGAGAGGCATACAGAAGGCCAAAGAAAGTGAAGATGAGGAAGGCCACACAGAAACCAAGGCAGAGAGACGAACAGAGAGGAGTCACAGAGACAAAGAGGTGTGGGAAGATACGGCAGGTGGGACACAGAAATACACAGCAAGGCAGAGAGGGAAAGCCAGAGACTCGGCAATAGCAAGGGAGATGGGGAGATGCAGGCGGGGAGAACGGTAGATATGGGTAAGGAGAGAAACAGAGAGGGACAGGGTTGAGGGAAGGATGTGGAGAGTGACCCCAGGCCCAGGAGTTAGGAGGGGGTGGGGAGGGGCAGAGACAGGGCCACGGTAAGACGCCAGTGGACGCGGGCGGCGGGTCCCAGGCATGACGCCTTGTTCCTCCAGCACAGATGGAGGAGTTCCCCAGGGCCAGAGCTGAGGCCAGCCTGCACTGGACTCAGGGGGTGCCGGGGTCCCGGGCCTCCTCCCTCCACCCAGGGCCCCACTCACTCTCCAGATACTTCTGCACCAACAGGTCAGGGTCACTCTCCCCCATCAGCTGGGACAGTTTATTCAGGGCGTCCTCGTAGCAAAGCACCAGCCTCTCCTGGGAGGTCTTCCAGACGCCCTCGGCCACCTCCCCGGCTAGGGGAAGAGAGAACAGCAGGTCGGCCTCCTGGGTGGCCTCCAACACAGAGACCTCCTGGGTGAGGGGGAGCGAAGTGTGGTCCCACCTGGGGCACGAAGGTGTGCTGCAGGTGCCCCAGGGGCGGCCAGGCCCTTGAGATGCAAAGGCAGCAGCCCCAGCCTCACTCTGCTTTTCACGCTTCTCCAGGACATCGGGATCCGGCTGCCGGTCGTTGTTCTTGAGCTTGAGGAAGTGGTGCAGCTGCTCCAGGTGCAAGATCTGCCGCTGCAGGACCTGCGCCTCCATCTCGCTCTGGGCCTCCTCTTTCTCCGCGCGCTCCCGCAGCAAGCCCATCTTGGCCTTCGCCTCCTCCCTGCGGGGGTCAGCCGGGGTCAGGATGACTGGAGGCTGGACTGGGGTCGGCCTGGGGTCCTGGGGATGGGCGGGGTCAGCCAGAGGTTGTGGGGGGTGAGGTGGAGTCAGCTGGTGTCCCAGATGGGCAGGGCCAGCCTGGGGTCACAGGAATGGGGCTGAATCAGGTTGCAGTTATCCTGTGGTCACAAAAAGCAGAGAACTGGCTGGGCACGGTGGCTCAGGCTGTAATCCCAGCACTTTGGGAGGCAGGAGGATCACCTGCAGTCAGGAGTTTGAAACCAGCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCCAGACCTGGTGGTGCATGCCTGTAATCCCAACTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGTGAAGATTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGTGGCAAGAGCGAAACTGTCTCAAAAAAAAAAAAAAGACAGAAGCAAGAACTTCAAAAGAGTGCGACATCATATTAGAAACACAACACAAAACTCTCGGTGTGCTGCTGGCTCACGTTCTTTCAGCAGCCTGCTCTCCTCATCCTTCAGAGTGTACTGTCTCTCTCTAGGTAAACTCTCTGTTCTCTATTTGCCTTCAGTAAATTCTCTTTGTTGGCTAAATCAGTCTCTTGGCAGAATTCTTTCTCCCAAGTAAGACTAAAAAGCGAGGATTCCTGTACTTCCCGGTGGCAGGTAGTTTTCCTTTTGGAGTGATGGAAATATTTCAGATCTAGACAGAAGTGGTGCGGTTGCACGGCCCCGTGAATGTACTAAATGCTGCTACATTCTACGCTTTAAAATGGTGAATTTTGCCACGTTTGTTTTAACAGAGAGAGAGAAAGAGAGAAATCACAGAGACCCTAAGGCCGACCCAGGCCACAGCTGATGTCGATCAGGGACCATGAGAAAACAGAAGCCAGAGAAGAACTTAGTAGAAGGTAAGAAAGCATTTGGAGCAAAAGAAGAGGGCGAAGCTGAGAAAGAGACAGGGATGGAGTGAGAGAGAGAGCATGGAGCTCATGAGAGCCCCAGAGAGGGAGAGAGAAGCCAACACCTAAAGCAGCTTCAGCTCCTCAACTCCTTACAGTGTGCCTCTATCTGAAGGTGGCCCGAGAGGATCTCTGTCCCTTGCAACCAATGCTGACGAATAACAAATTCGCCAGATGCTTCCAGGAACCCTGCTGCACTATATATGTGCTAGATGCGCTTTTTTTTTTTTTTTCTCCTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCCCCCAGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGACACCCGCCACCATGCCCAGCTAAGTTTTTATATTTTTGGTAGAGATGGGATTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGAGCTCAAGCAATCTGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCTCGCCCAGCCAGTAGATACATTCTTATGTGCTAGATGGGGTCAGTAGAGGTTAATTTACATGCCCAAGAAAAAGAACAGGGCCGGTGGGGTGCAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGTAGATCATGAGCTCAGGAGTTCAAGACCAGCCTGGTCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGCCACGGTGCCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGTTTGAACCTGGGAGGTAGAGGTTGCA
Task1_train_27439
This mutation is located in gene GRIN2D (glutamate ionotropic receptor NMDA type subunit 2D) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Developmental and epileptic encephalopathy, 46
CAGGACGTGGGAGGTGGTGAGTCGTAGCCCCAGACCTCAGGCATGGCAGAGGGTGTGGACTCCTGCATCCTGGCAGAGGGGGGGCTTGAGGTCGTGGACTAAGAGGGAGGAGGGGACAAGGAGCCTGGACTCCTGGGTCCTGGGATCTGAAGGTGGGAGGGGCTCCTGGGTCTTGGAAGAAGCTGCTGCCCACACACCTAGGTCTGAGGGAAGAGGATCATGGAGGCCAGGATACACCGGGAAGTCTTCCCAGGAAGCCTGACTCTCTTTCCCTTTGGCCAAGGTGGGCAGCTGGGAGCAGCAGACGCTCCGCCTCAAGTACCCGCTGTGGTCCCGCTATGGTCGCTTCCTGCAGCCAGTGGACGACACGCAGCACCTCACGGTGGCCACGCTGGAGGAAAGGCCGTTTGTCATCGTGGAGCCTGCAGACCCTATCAGCGGCACCTGCATCCGAGACTCCGTCCCCTGCCGGAGCCAGCTCAACCGAACCCACAGGTGACAGCTCGGGATCCAGGAGTTCCGGCTCCAAAACCCGCCTCCCGTGAAGCCCAGTAGTCTGGGCCCCCAGCCCCCTCCTCCCTTGGGACCCAGGACCCACAAAGCCCTCCAGCTTGGTGACCTTAGGCAAACCTCAGAATTCTTTGAGCCTGAGTTTCCCCTGAAAGCGCTAACCATAGTTTTAGCTGCCGCCTATCCCTTCCTCCATATCCTCTCTTCATGAGAGAGTCTAAGGAGGGGGTCCCCAAACTCCCCAAGCCTGGTCACTGCCCGCAGCCCTCCACCGGATGCCCCCCGCCCGGAAAAGCGCTGCTGCAAGGGTTTCTGCATCGACATTCTGAAGCGGCTGGCGCATACCATCGGCTTCAGCTACGACCTCTACCTGGTCACCAATGGCAAGCACGGAAAGAAGATCGATGGCGTCTGGAACGGCATGATCGGGGAGGTGAGGGGGCGGACGGGAGGCGGGGAATCTTCGGGGCGGAGTCGAGAGGCGGGCACAGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCGAATTGCCTGAGCTCAGGGGTTCGAGACCAGTTTGGGCAAAACGGTGAAACCCCGTCTCTACTAAAATGCAAAAAATTAGCCGTGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTAAGCGGAGATCGCGCCACTGCACTCCAGCCTGGGCACAGAGTGAGACTCAGTCTCAAAAAATAATAATAAAAAAAAAGAGGTCGGCACCCTGGGGCAGGGGCGCGGCCAAATTGAGGAAACACCTGATTGGGGCCTGGGGCGGGGTCGCGGGAGGGACATGCCTTGGAACAGGGGGCGGGGTCAGGAGGTGTCAGGGGCGGGGTTTGGAGGAGGGACTTTGGAGCAGAGGAGGCGGGGCTAGGAGGGTGGGACTCCTAGGGGAAGGGGGCAGGGCTGGGAGGAGGGACTTTGGGGCAGTGGAGGCGGGGCTAGGAGGGTGGGACTCCTAGGGGAAGGGGGCGGGGCTGGGAGGAGGGACTTTGGTACAGAGGAGGAGGGGCCAGGAGGGTGAGAATCTAGGGGAAGAGGGTGGGGCTGGGAAGATCTGGACCAAGGCCTTGAGGTCTTGCTGGGAGCAGCCGGGTAGGACGCGGGCTACCAATTCCCAATCTTGTTCCCCATTTCTCACCTCCGCCCTTCCCTGCCCCACTCTTCGTCCCCCTCCTCACCCACCTCGCAATCCCTCTTGGCCCCTTCCCTCACCCTGTCACTGGTCTGCTCCCGGGGCCCGTCTCTGCTCGCCGTCCGTGTCAGTCTGTCCGCTTGAGCCGGGTTCCCCCGCCCACTCCTCATCGCCCCCACCCCAGGTGTTCTACCAGCGCGCAGACATGGCCATCGGCTCCCTCACCATCAACGAGGAGCGCTCCGAGATCGTGGACTTCTCCGTCCCCTTCGTGGAGACCGGCATCAGCGTCATGGTGGCGCGCAGCAATGGCACGGTGTCCCCCTCGGCCTTCCTCGGTAATCTGGGGCCCTGGGACAGGGAGCTAGCCCTAGGCAAAGTAGCCGTCCCCAACCGTGTGGGCCCTGGGATCAGAAAACCTGGGTTCCCGGTATCATCGGTACTTGAACCCGCTGTGCAACTTCGGTGAAGTGACATCATTTCTGAACCTCAGTTTCCTAATCTACAAGATGGAAGAAATAATTTCCCTACCCAGAAGACATTTCATCAAGAGGCTAAAGAAGCTTGAGCTCAGGAGCCTTCTCTTGCACTGCAGCTTCCAAGCCCTGCACCTGGTTTTGTATTCATAAGGTTGAATTATTTTTTCTCAAAGAGAGCCCTCCAAATTGTGCAAGCTTCAGGCCCCACAAAACCCAAGTGTTTTCCTGTACTAGGTATGAGATGAAGAGAACAAATTAGCATGGTACCAATACCTTGTAAGCACTTAAGTCACCATCAGTGTTTACTGAGCATCTACTATGTGCCAGGTGGTGGGCTCCACACTGGGAACACAGTGGCAAATGAGGAAGACACAAATCCCTGTCCAGTAGGATCTCTCAGCCTTGTGAAGGAGGCAGAAGATAAGCTTCTACTTCTCTCTCTCTCTCTCTTTTTTTTTTTTTCAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAATGCAGTGGCACCATCTCGGCTCACTGCAACCTCAACCTGCCTCTCAGGTTTAAGCGATTCTCCTGCCTCAGCCTGCCAAGTAACTGGGATCACAGGCATGCACCACCACGCCTGGCCAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGGTGGCCAGCCTAATCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAATGCTGGAATTACAGGCGTGAGCCACTGCACCCGGACAAGGGTTTTAACTACAGAAGATGGTGTGGGGATATATAATCAGATTTAAGTTTTTAAAATATCCAGCTCTGTGTAATCCCAGCTACTCCGGAGGCTGAGGTGTAAGGATGGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACCGCACTCCAGCCTGGATGACAGAGCCAGACCCTATCTCTAAAAAAGAACAAAGAAAAAAATCCCACTCTGTGGAAGCAAGTGGCTGGTGGGGATGCTACTGCAAGGTTTATGCCAGAGACAGAGTGGGGGTGTGCAATAGGAAGGTGACAGCAGACAGATGCAGGGTGTGGTTAGAGAGCTGCCCACCAGATGGGCTGGTGGCTTTGAGATGGATTGGGTAGAGGGACCATTGCTGAGCTGGAGAAGCGTACATCGGCCAAGGGCAACAGTGCTTGTCAGTTCCCACTTGCTCTCTGAAGTGTGAGCAAAGCTCCTGGGAGAGGGGAGGGGCTGGAAGAAGAGCCATCCCTTCCTTTGTGTTTTGTTTTCTGTTTATTTCGCCCAGTGGTGTCTCCTGTGGCCTCCCCTTTGCACCAAGGTCTCTGCAGGGCACACTGAGAAGCACCACGTGGGGCCCCTGCTTGCAGGCAGCACACTGCAGAGGAGTGACAAGGTCCTATTTATGCCCCACCAAGTTGCCCAGCAGAGGTGACAGGCGTGTCCCCAGCTGCCGCAGTGACAGTCCAGGGTGCTGACCTTGCTGTGACGGGGGCAGTCCTGACAGCTCACACTTGGCCCTGGAAAGTTGAATCACCTGGTCCTAATCTCAATGAAATGGTGATTTGGGTTTATTGTTGGTGAGCTCCCAGGGGCTAAACACAGTTATCGAATGTGAGGAGGGGACACATGAATGGGAGGTTGTCTAATGGACAGGGCAGGGTGTTAACTCTAGCAGGGACACCTAGGAGACAAGGAAGAGAGGGTGTCGCTGATTCAGGCACCTGCGAGTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTACTGAGTAGTTGGGACTACAGGCGCCCACC
CAGGACGTGGGAGGTGGTGAGTCGTAGCCCCAGACCTCAGGCATGGCAGAGGGTGTGGACTCCTGCATCCTGGCAGAGGGGGGGCTTGAGGTCGTGGACTAAGAGGGAGGAGGGGACAAGGAGCCTGGACTCCTGGGTCCTGGGATCTGAAGGTGGGAGGGGCTCCTGGGTCTTGGAAGAAGCTGCTGCCCACACACCTAGGTCTGAGGGAAGAGGATCATGGAGGCCAGGATACACCGGGAAGTCTTCCCAGGAAGCCTGACTCTCTTTCCCTTTGGCCAAGGTGGGCAGCTGGGAGCAGCAGACGCTCCGCCTCAAGTACCCGCTGTGGTCCCGCTATGGTCGCTTCCTGCAGCCAGTGGACGACACGCAGCACCTCACGGTGGCCACGCTGGAGGAAAGGCCGTTTGTCATCGTGGAGCCTGCAGACCCTATCAGCGGCACCTGCATCCGAGACTCCGTCCCCTGCCGGAGCCAGCTCAACCGAACCCACAGGTGACAGCTCGGGATCCAGGAGTTCCGGCTCCAAAACCCGCCTCCCGTGAAGCCCAGTAGTCTGGGCCCCCAGCCCCCTCCTCCCTTGGGACCCAGGACCCACAAAGCCCTCCAGCTTGGTGACCTTAGGCAAACCTCAGAATTCTTTGAGCCTGAGTTTCCCCTGAAAGCGCTAACCATAGTTTTAGCTGCCGCCTATCCCTTCCTCCATATCCTCTCTTCATGAGAGAGTCTAAGGAGGGGGTCCCCAAACTCCCCAAGCCTGGTCACTGCCCGCAGCCCTCCACCGGATGCCCCCCGCCCGGAAAAGCGCTGCTGCAAGGGTTTCTGCATCGACATTCTGAAGCGGCTGGCGCATACCATCGGCTTCAGCTACGACCTCTACCTGGTCACCAATGGCAAGCACGGAAAGAAGATCGATGGCGTCTGGAACGGCATGATCGGGGAGGTGAGGGGGCGGACGGGAGGCGGGGAATCTTCGGGGCGGAGTCGAGAGGCGGGCACAGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCGAATTGCCTGAGCTCAGGGGTTCGAGACCAGTTTGGGCAAAACGGTGAAACCCCGTCTCTACTAAAATGCAAAAAATTAGCCGTGCGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTAAGCGGAGATCGCGCCACTGCACTCCAGCCTGGGCACAGAGTGAGACTCAGTCTCAAAAAATAATAATAAAAAAAAAGAGGTCGGCACCCTGGGGCAGGGGCGCGGCCAAATTGAGGAAACACCTGATTGGGGCCTGGGGCGGGGTCGCGGGAGGGACATGCCTTGGAACAGGGGGCGGGGTCAGGAGGTGTCAGGGGCGGGGTTTGGAGGAGGGACTTTGGAGCAGAGGAGGCGGGGCTAGGAGGGTGGGACTCCTAGGGGAAGGGGGCAGGGCTGGGAGGAGGGACTTTGGGGCAGTGGAGGCGGGGCTAGGAGGGTGGGACTCCTAGGGGAAGGGGGCGGGGCTGGGAGGAGGGACTTTGGTACAGAGGAGGAGGGGCCAGGAGGGTGAGAATCTAGGGGAAGAGGGTGGGGCTGGGAAGATCTGGACCAAGGCCTTGAGGTCTTGCTGGGAGCAGCCGGGTAGGACGCGGGCTACCAATTCCCAATCTTGTTCCCCATTTCTCACCTCCGCCCTTCCCTGCCCCACTCTTCGTCCCCCTCCTCACCCACCTCGCAATCCCTCTTGGCCCCTTCCCTCACCCTGTCACTGGTCTGCTCCCGGGGCCCGTCTCTGCTCGCCGTCCGTGTCAGTCTGTCCGCTTGAGCCGGGTTCCCCCGCCCACTCCTCATCGCCCCCACCCCAGGTGTTCTACCAGCGCGCAGACATGGCCATCGGCTCCCTCACCATCAACGAGGAGCGCTCCGAGATCGTGGACTTCTCCGTCCCCTTCGTGGAGACCGGCATCAGCGTCATGGTGGCGCGCAGCAATGGCACGGTGTTCCCCTCGGCCTTCCTCGGTAATCTGGGGCCCTGGGACAGGGAGCTAGCCCTAGGCAAAGTAGCCGTCCCCAACCGTGTGGGCCCTGGGATCAGAAAACCTGGGTTCCCGGTATCATCGGTACTTGAACCCGCTGTGCAACTTCGGTGAAGTGACATCATTTCTGAACCTCAGTTTCCTAATCTACAAGATGGAAGAAATAATTTCCCTACCCAGAAGACATTTCATCAAGAGGCTAAAGAAGCTTGAGCTCAGGAGCCTTCTCTTGCACTGCAGCTTCCAAGCCCTGCACCTGGTTTTGTATTCATAAGGTTGAATTATTTTTTCTCAAAGAGAGCCCTCCAAATTGTGCAAGCTTCAGGCCCCACAAAACCCAAGTGTTTTCCTGTACTAGGTATGAGATGAAGAGAACAAATTAGCATGGTACCAATACCTTGTAAGCACTTAAGTCACCATCAGTGTTTACTGAGCATCTACTATGTGCCAGGTGGTGGGCTCCACACTGGGAACACAGTGGCAAATGAGGAAGACACAAATCCCTGTCCAGTAGGATCTCTCAGCCTTGTGAAGGAGGCAGAAGATAAGCTTCTACTTCTCTCTCTCTCTCTCTTTTTTTTTTTTTCAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAATGCAGTGGCACCATCTCGGCTCACTGCAACCTCAACCTGCCTCTCAGGTTTAAGCGATTCTCCTGCCTCAGCCTGCCAAGTAACTGGGATCACAGGCATGCACCACCACGCCTGGCCAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGGTGGCCAGCCTAATCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAATGCTGGAATTACAGGCGTGAGCCACTGCACCCGGACAAGGGTTTTAACTACAGAAGATGGTGTGGGGATATATAATCAGATTTAAGTTTTTAAAATATCCAGCTCTGTGTAATCCCAGCTACTCCGGAGGCTGAGGTGTAAGGATGGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCACCACCGCACTCCAGCCTGGATGACAGAGCCAGACCCTATCTCTAAAAAAGAACAAAGAAAAAAATCCCACTCTGTGGAAGCAAGTGGCTGGTGGGGATGCTACTGCAAGGTTTATGCCAGAGACAGAGTGGGGGTGTGCAATAGGAAGGTGACAGCAGACAGATGCAGGGTGTGGTTAGAGAGCTGCCCACCAGATGGGCTGGTGGCTTTGAGATGGATTGGGTAGAGGGACCATTGCTGAGCTGGAGAAGCGTACATCGGCCAAGGGCAACAGTGCTTGTCAGTTCCCACTTGCTCTCTGAAGTGTGAGCAAAGCTCCTGGGAGAGGGGAGGGGCTGGAAGAAGAGCCATCCCTTCCTTTGTGTTTTGTTTTCTGTTTATTTCGCCCAGTGGTGTCTCCTGTGGCCTCCCCTTTGCACCAAGGTCTCTGCAGGGCACACTGAGAAGCACCACGTGGGGCCCCTGCTTGCAGGCAGCACACTGCAGAGGAGTGACAAGGTCCTATTTATGCCCCACCAAGTTGCCCAGCAGAGGTGACAGGCGTGTCCCCAGCTGCCGCAGTGACAGTCCAGGGTGCTGACCTTGCTGTGACGGGGGCAGTCCTGACAGCTCACACTTGGCCCTGGAAAGTTGAATCACCTGGTCCTAATCTCAATGAAATGGTGATTTGGGTTTATTGTTGGTGAGCTCCCAGGGGCTAAACACAGTTATCGAATGTGAGGAGGGGACACATGAATGGGAGGTTGTCTAATGGACAGGGCAGGGTGTTAACTCTAGCAGGGACACCTAGGAGACAAGGAAGAGAGGGTGTCGCTGATTCAGGCACCTGCGAGTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTACTGAGTAGTTGGGACTACAGGCGCCCACC
Task1_train_27440
The gene GRIN2D, LOC130064857 (glutamate ionotropic receptor NMDA type subunit 2D| ATAC-STARR-seq lymphoblastoid active region 14894), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Developmental and epileptic encephalopathy, 46
AGCACACTGCAGAGGAGTGACAAGGTCCTATTTATGCCCCACCAAGTTGCCCAGCAGAGGTGACAGGCGTGTCCCCAGCTGCCGCAGTGACAGTCCAGGGTGCTGACCTTGCTGTGACGGGGGCAGTCCTGACAGCTCACACTTGGCCCTGGAAAGTTGAATCACCTGGTCCTAATCTCAATGAAATGGTGATTTGGGTTTATTGTTGGTGAGCTCCCAGGGGCTAAACACAGTTATCGAATGTGAGGAGGGGACACATGAATGGGAGGTTGTCTAATGGACAGGGCAGGGTGTTAACTCTAGCAGGGACACCTAGGAGACAAGGAAGAGAGGGTGTCGCTGATTCAGGCACCTGCGAGTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTACTGAGTAGTTGGGACTACAGGCGCCCACCACGACACCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAGGTGATCCTCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAACCACCACACCCAGCCACCTGTGAGTTTTGAGTAAAGCATGGGTGCTTGAGAGAGTGATCAGGACAGAAAGGAGAGTGTGACAAGGCTGAGTGGCAGGGACTTTGTCCTGGGGGTGCTAGGGAGCCTGGGGAGGGCTGTAAGCAGGGGAGGGGCCAGGTCCTCTCTGTGCTGTGTGGGGGATAGGCTGTAGGGGACAGACAGGAGCTCAGGAGGCTGGGGAAATGGTTGGTGGGAGGAGATGAGGCCTGAGCCCTGTTGGCCATGAGAATGGAGAGGAGAGGCCCAAGTAGCATCAGGGGCAGGAGCGTGGGGCTGGATACTGACAGGCTGTGGCCAGCGAGGGAGAAGGAGGGAGGAAGGGAGGACGGCAAATGAGGTTTGGGCCTGTGACTGGGTGGATGGTGGGGCTCCCATCATGAGGAGCGTGGGAGCTGGTCTGGGCTCAGCATGGGACATGATGAATGGCCTGAGGAGATGGCTGGGGTAGGTGGAGGCTTGGGCCTGTGACTCAGGAAACATTTAGGAGACAGTTTCTATTTGGTGGCTGAAACCACAGAAATGCCTGCGACGGCTCTCTTTGAGAATGGCTGCCTCCTAGGGGTATGGGTGTGCCATAAGACTATCTTGGAGATGGAGAAGCAGAGATAGGGCCAGAATAGGATGGGGTCAGATCTGGGCTGCACCTTGTTCCCTGCTGGTAGTACCCTAGGGTTTTTTTTCTTTCTTTTTTCTTCCTTTTTTTTTTTTGTAGAGACAGGGAGTTCAAGGCCAGTCTGGTCTTGAACTCCAGGCGTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTTCTGGGAGTACAGGCGTGAGGCACCGCCCCAGCCTGATCCCCGAGTCTTTTGCTTGGCTGAGCCATAACCACGCACTCCCTTGTCCCCAGAGCCCTACAGCCCCGCCGTGTGGGTGATGATGTTCGTCATGTGCCTCACTGTGGTCGCCGTCACTGTTTTCATCTTCGAGTACCTCAGTCCTGTTGGTTACAACCGCAGCCTGGCCACGGGCAAGCGTGAGTCCCCCTTCCTCCATCCCCCGCCTCGGAGATCCCGAACCACAGAGACAGAGAACTACATTTCCCAGCAGCCCCTGGAGGGGGGGCGGTCAAGCTAGGGCCTCTCGGGAGGTGCCAGATGCCTTGAGGGCCACTGGGAATTGTAGTTCTTTCTTTTTTTTTTTTTCCCTTCCTTATTGAGAAGGGATTTGGGGTCCATGTCCACGTCCTGGCCCCCTGCAGGCCCTGGCGGTTCAACCTTCACCATTGGGAAATCCATCTGGCTGCTCTGGGCCCTGGTGTTCAATAATTCGGTGCCCGTGGAGAACCCCCGGGGAACCACCAGCAAAATCATGGTGCTGGTGTGGGCCTTCTTCGCCGTCATCTTCCTCGCCAGCTACACAGCCAACCTGGCCGCCTTCATGATCCAGGAGGAGTACGTGGATACTGTGTCTGGGCTCAGTGACCGCAAGGTGTGTGTGGGCCCAGGGCTGGGCTGGAGCTGGGGCTGGGGCTGGAGGTCACAGAGCTTGTCATGTGGTAGATTAGAGGGGATTCTTGCGGGGGGCGGGGGTGAGAGGGGTGGGGGGAGGGCGGGAAGGGGTCTCTTCCCAAGGAGAATTCCAGAATGGTAGAATGGAATGTTGTGGATGAAGAAAGAACACGGTTCACGATGAGCTATTTAAAATATTCCTAGGGAAGAGGGTGTCCCTGAATGTTCTAGGGGCAGTTGTGTCAAATAGGATATTCTAGAACCAGTGCTTCTCTCAAACTGTGAGGAAGGATTAATTTTTGAAACTTCTAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTTCTAAAAGTACATAAAATTAGCCGGGCGTGGTGACAGGCACCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCCCCACTGCACTCCAGCCAGCGCGACAGAGTTAGACTCTGTCTCAAAAAAACAAAAAACTGCTAGTCCATTGCAGACAATGCTTTTGTAAAATTCAACGGAAATGAATTATTAGAAAAGTAAAATAAGATCTAAAACCAAGACAGACAAAAGTCAAACCTGGCCAGGAACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCAGGCGTGGTAGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCATGATTACGCCACAAATAGAACTGATTCCTAGCCTGGGTGACAGAGCGAGACTCTGCCTAAAAAAAAGCCAAACTCACATTTTTATTTATTAGATTCAACAGACGAAAAAGAATTCTGTCAAATCACTCTAAATGCTCACTCTCTCCATTCCTGTACACATCTCACTGCAATCACCGTTTGTTGAGGGACTGGTGGTTTGCAGAGCATACTTTGAGACTAAAGTGATTAACTAGCTGGGTGTCATGACCTATTAGAGGCTTGAGAAATCAGTTTGATGGGTTGCAATAAGCATTTTTTAATGGAATGGAGTAGAATAGAATAGTTGCCTGCATCTTATGTATAAGTTTGGTTTTACAAAACTTGTTTTAGTTGTCTGGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGGTAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAACTGGCTGGGCATGGTGGTATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCAGTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGACAGTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAGACTCCGTTTAAAAAAAAAAAAGTGAACTATTTCTGAACGGATTGGTAAATAGCAACAGCTCCCAGCTCCTGCCATGCCAGCCTCTACTCCCAGGACCTCCCGCGATTCAGTAAGTGAAGACTTAACACCTGGCACATCAGGGGCCTCAGGGAGGCTTCTCGTGAACTTTTGGATCACGTGTCTGCAACCGTGTGTGCTGGGTGGGAGTGGAAAAGCATTCCCTAATGTAGTGAGCGAGTGTTGAGAAATATTGAACACTCCTGGGACTGGGGTGTCTGCCAGATAGCGGGTGTGTCTCAGAATGGGTGATTTATGTTAGGGATGTCCCTGCGGAGGGTGCCCTAATCAC
AGCACACTGCAGAGGAGTGACAAGGTCCTATTTATGCCCCACCAAGTTGCCCAGCAGAGGTGACAGGCGTGTCCCCAGCTGCCGCAGTGACAGTCCAGGGTGCTGACCTTGCTGTGACGGGGGCAGTCCTGACAGCTCACACTTGGCCCTGGAAAGTTGAATCACCTGGTCCTAATCTCAATGAAATGGTGATTTGGGTTTATTGTTGGTGAGCTCCCAGGGGCTAAACACAGTTATCGAATGTGAGGAGGGGACACATGAATGGGAGGTTGTCTAATGGACAGGGCAGGGTGTTAACTCTAGCAGGGACACCTAGGAGACAAGGAAGAGAGGGTGTCGCTGATTCAGGCACCTGCGAGTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTACTGAGTAGTTGGGACTACAGGCGCCCACCACGACACCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAGGTGATCCTCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAACCACCACACCCAGCCACCTGTGAGTTTTGAGTAAAGCATGGGTGCTTGAGAGAGTGATCAGGACAGAAAGGAGAGTGTGACAAGGCTGAGTGGCAGGGACTTTGTCCTGGGGGTGCTAGGGAGCCTGGGGAGGGCTGTAAGCAGGGGAGGGGCCAGGTCCTCTCTGTGCTGTGTGGGGGATAGGCTGTAGGGGACAGACAGGAGCTCAGGAGGCTGGGGAAATGGTTGGTGGGAGGAGATGAGGCCTGAGCCCTGTTGGCCATGAGAATGGAGAGGAGAGGCCCAAGTAGCATCAGGGGCAGGAGCGTGGGGCTGGATACTGACAGGCTGTGGCCAGCGAGGGAGAAGGAGGGAGGAAGGGAGGACGGCAAATGAGGTTTGGGCCTGTGACTGGGTGGATGGTGGGGCTCCCATCATGAGGAGCGTGGGAGCTGGTCTGGGCTCAGCATGGGACATGATGAATGGCCTGAGGAGATGGCTGGGGTAGGTGGAGGCTTGGGCCTGTGACTCAGGAAACATTTAGGAGACAGTTTCTATTTGGTGGCTGAAACCACAGAAATGCCTGCGACGGCTCTCTTTGAGAATGGCTGCCTCCTAGGGGTATGGGTGTGCCATAAGACTATCTTGGAGATGGAGAAGCAGAGATAGGGCCAGAATAGGATGGGGTCAGATCTGGGCTGCACCTTGTTCCCTGCTGGTAGTACCCTAGGGTTTTTTTTCTTTCTTTTTTCTTCCTTTTTTTTTTTTGTAGAGACAGGGAGTTCAAGGCCAGTCTGGTCTTGAACTCCAGGCGTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTTCTGGGAGTACAGGCGTGAGGCACCGCCCCAGCCTGATCCCCGAGTCTTTTGCTTGGCTGAGCCATAACCACGCACTCCCTTGTCCCCAGAGCCCTACAGCCCCGCCGTGTGGGTGATGATGTTCGTCATGTGCCTCACTGTGGTCGCCGTCACTGTTTTCATCTTCGAGTACCTCAGTCCTGTTGGTTACAACCGCAGCCTGGCCACGGGCAAGCGTGAGTCCCCCTTCCTCCATCCCCCGCCTCGGAGATCCCGAACCACAGAGACAGAGAACTACATTTCCCAGCAGCCCCTGGAGGGGGGGCGGTCAAGCTAGGGCCTCTCGGGAGGTGCCAGATGCCTTGAGGGCCACTGGGAATTGTAGTTCTTTCTTTTTTTTTTTTTCCCTTCCTTATTGAGAAGGGATTTGGGGTCCATGTCCACGTCCTGGCCCCCTGCAGGCCCTGGCGGTTCAACCTTCACCATTGGGAAATCCATCTGGCTGCTCTGGGCCCTGGTGTTCAATAATTCGGTGCCCGTGGAGAACCCCCGGGGAACCACCAGCAAAATCATGGTGCTGGTGTGGGCCTTCTTCGTCGTCATCTTCCTCGCCAGCTACACAGCCAACCTGGCCGCCTTCATGATCCAGGAGGAGTACGTGGATACTGTGTCTGGGCTCAGTGACCGCAAGGTGTGTGTGGGCCCAGGGCTGGGCTGGAGCTGGGGCTGGGGCTGGAGGTCACAGAGCTTGTCATGTGGTAGATTAGAGGGGATTCTTGCGGGGGGCGGGGGTGAGAGGGGTGGGGGGAGGGCGGGAAGGGGTCTCTTCCCAAGGAGAATTCCAGAATGGTAGAATGGAATGTTGTGGATGAAGAAAGAACACGGTTCACGATGAGCTATTTAAAATATTCCTAGGGAAGAGGGTGTCCCTGAATGTTCTAGGGGCAGTTGTGTCAAATAGGATATTCTAGAACCAGTGCTTCTCTCAAACTGTGAGGAAGGATTAATTTTTGAAACTTCTAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTTCTAAAAGTACATAAAATTAGCCGGGCGTGGTGACAGGCACCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCCCCACTGCACTCCAGCCAGCGCGACAGAGTTAGACTCTGTCTCAAAAAAACAAAAAACTGCTAGTCCATTGCAGACAATGCTTTTGTAAAATTCAACGGAAATGAATTATTAGAAAAGTAAAATAAGATCTAAAACCAAGACAGACAAAAGTCAAACCTGGCCAGGAACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCAGGCGTGGTAGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCATGATTACGCCACAAATAGAACTGATTCCTAGCCTGGGTGACAGAGCGAGACTCTGCCTAAAAAAAAGCCAAACTCACATTTTTATTTATTAGATTCAACAGACGAAAAAGAATTCTGTCAAATCACTCTAAATGCTCACTCTCTCCATTCCTGTACACATCTCACTGCAATCACCGTTTGTTGAGGGACTGGTGGTTTGCAGAGCATACTTTGAGACTAAAGTGATTAACTAGCTGGGTGTCATGACCTATTAGAGGCTTGAGAAATCAGTTTGATGGGTTGCAATAAGCATTTTTTAATGGAATGGAGTAGAATAGAATAGTTGCCTGCATCTTATGTATAAGTTTGGTTTTACAAAACTTGTTTTAGTTGTCTGGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGGTAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAACTGGCTGGGCATGGTGGTATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCAGTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGACAGTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAGACTCCGTTTAAAAAAAAAAAAGTGAACTATTTCTGAACGGATTGGTAAATAGCAACAGCTCCCAGCTCCTGCCATGCCAGCCTCTACTCCCAGGACCTCCCGCGATTCAGTAAGTGAAGACTTAACACCTGGCACATCAGGGGCCTCAGGGAGGCTTCTCGTGAACTTTTGGATCACGTGTCTGCAACCGTGTGTGCTGGGTGGGAGTGGAAAAGCATTCCCTAATGTAGTGAGCGAGTGTTGAGAAATATTGAACACTCCTGGGACTGGGGTGTCTGCCAGATAGCGGGTGTGTCTCAGAATGGGTGATTTATGTTAGGGATGTCCCTGCGGAGGGTGCCCTAATCAC
Task1_train_27441
A change on Chromosome 19 affects gene GRIN2D (glutamate ionotropic receptor NMDA type subunit 2D). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; not provided
CTATTTATGCCCCACCAAGTTGCCCAGCAGAGGTGACAGGCGTGTCCCCAGCTGCCGCAGTGACAGTCCAGGGTGCTGACCTTGCTGTGACGGGGGCAGTCCTGACAGCTCACACTTGGCCCTGGAAAGTTGAATCACCTGGTCCTAATCTCAATGAAATGGTGATTTGGGTTTATTGTTGGTGAGCTCCCAGGGGCTAAACACAGTTATCGAATGTGAGGAGGGGACACATGAATGGGAGGTTGTCTAATGGACAGGGCAGGGTGTTAACTCTAGCAGGGACACCTAGGAGACAAGGAAGAGAGGGTGTCGCTGATTCAGGCACCTGCGAGTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTACTGAGTAGTTGGGACTACAGGCGCCCACCACGACACCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAGGTGATCCTCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAACCACCACACCCAGCCACCTGTGAGTTTTGAGTAAAGCATGGGTGCTTGAGAGAGTGATCAGGACAGAAAGGAGAGTGTGACAAGGCTGAGTGGCAGGGACTTTGTCCTGGGGGTGCTAGGGAGCCTGGGGAGGGCTGTAAGCAGGGGAGGGGCCAGGTCCTCTCTGTGCTGTGTGGGGGATAGGCTGTAGGGGACAGACAGGAGCTCAGGAGGCTGGGGAAATGGTTGGTGGGAGGAGATGAGGCCTGAGCCCTGTTGGCCATGAGAATGGAGAGGAGAGGCCCAAGTAGCATCAGGGGCAGGAGCGTGGGGCTGGATACTGACAGGCTGTGGCCAGCGAGGGAGAAGGAGGGAGGAAGGGAGGACGGCAAATGAGGTTTGGGCCTGTGACTGGGTGGATGGTGGGGCTCCCATCATGAGGAGCGTGGGAGCTGGTCTGGGCTCAGCATGGGACATGATGAATGGCCTGAGGAGATGGCTGGGGTAGGTGGAGGCTTGGGCCTGTGACTCAGGAAACATTTAGGAGACAGTTTCTATTTGGTGGCTGAAACCACAGAAATGCCTGCGACGGCTCTCTTTGAGAATGGCTGCCTCCTAGGGGTATGGGTGTGCCATAAGACTATCTTGGAGATGGAGAAGCAGAGATAGGGCCAGAATAGGATGGGGTCAGATCTGGGCTGCACCTTGTTCCCTGCTGGTAGTACCCTAGGGTTTTTTTTCTTTCTTTTTTCTTCCTTTTTTTTTTTTGTAGAGACAGGGAGTTCAAGGCCAGTCTGGTCTTGAACTCCAGGCGTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTTCTGGGAGTACAGGCGTGAGGCACCGCCCCAGCCTGATCCCCGAGTCTTTTGCTTGGCTGAGCCATAACCACGCACTCCCTTGTCCCCAGAGCCCTACAGCCCCGCCGTGTGGGTGATGATGTTCGTCATGTGCCTCACTGTGGTCGCCGTCACTGTTTTCATCTTCGAGTACCTCAGTCCTGTTGGTTACAACCGCAGCCTGGCCACGGGCAAGCGTGAGTCCCCCTTCCTCCATCCCCCGCCTCGGAGATCCCGAACCACAGAGACAGAGAACTACATTTCCCAGCAGCCCCTGGAGGGGGGGCGGTCAAGCTAGGGCCTCTCGGGAGGTGCCAGATGCCTTGAGGGCCACTGGGAATTGTAGTTCTTTCTTTTTTTTTTTTTCCCTTCCTTATTGAGAAGGGATTTGGGGTCCATGTCCACGTCCTGGCCCCCTGCAGGCCCTGGCGGTTCAACCTTCACCATTGGGAAATCCATCTGGCTGCTCTGGGCCCTGGTGTTCAATAATTCGGTGCCCGTGGAGAACCCCCGGGGAACCACCAGCAAAATCATGGTGCTGGTGTGGGCCTTCTTCGCCGTCATCTTCCTCGCCAGCTACACAGCCAACCTGGCCGCCTTCATGATCCAGGAGGAGTACGTGGATACTGTGTCTGGGCTCAGTGACCGCAAGGTGTGTGTGGGCCCAGGGCTGGGCTGGAGCTGGGGCTGGGGCTGGAGGTCACAGAGCTTGTCATGTGGTAGATTAGAGGGGATTCTTGCGGGGGGCGGGGGTGAGAGGGGTGGGGGGAGGGCGGGAAGGGGTCTCTTCCCAAGGAGAATTCCAGAATGGTAGAATGGAATGTTGTGGATGAAGAAAGAACACGGTTCACGATGAGCTATTTAAAATATTCCTAGGGAAGAGGGTGTCCCTGAATGTTCTAGGGGCAGTTGTGTCAAATAGGATATTCTAGAACCAGTGCTTCTCTCAAACTGTGAGGAAGGATTAATTTTTGAAACTTCTAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTTCTAAAAGTACATAAAATTAGCCGGGCGTGGTGACAGGCACCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCCCCACTGCACTCCAGCCAGCGCGACAGAGTTAGACTCTGTCTCAAAAAAACAAAAAACTGCTAGTCCATTGCAGACAATGCTTTTGTAAAATTCAACGGAAATGAATTATTAGAAAAGTAAAATAAGATCTAAAACCAAGACAGACAAAAGTCAAACCTGGCCAGGAACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCAGGCGTGGTAGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCATGATTACGCCACAAATAGAACTGATTCCTAGCCTGGGTGACAGAGCGAGACTCTGCCTAAAAAAAAGCCAAACTCACATTTTTATTTATTAGATTCAACAGACGAAAAAGAATTCTGTCAAATCACTCTAAATGCTCACTCTCTCCATTCCTGTACACATCTCACTGCAATCACCGTTTGTTGAGGGACTGGTGGTTTGCAGAGCATACTTTGAGACTAAAGTGATTAACTAGCTGGGTGTCATGACCTATTAGAGGCTTGAGAAATCAGTTTGATGGGTTGCAATAAGCATTTTTTAATGGAATGGAGTAGAATAGAATAGTTGCCTGCATCTTATGTATAAGTTTGGTTTTACAAAACTTGTTTTAGTTGTCTGGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGGTAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAACTGGCTGGGCATGGTGGTATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCAGTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGACAGTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAGACTCCGTTTAAAAAAAAAAAAGTGAACTATTTCTGAACGGATTGGTAAATAGCAACAGCTCCCAGCTCCTGCCATGCCAGCCTCTACTCCCAGGACCTCCCGCGATTCAGTAAGTGAAGACTTAACACCTGGCACATCAGGGGCCTCAGGGAGGCTTCTCGTGAACTTTTGGATCACGTGTCTGCAACCGTGTGTGCTGGGTGGGAGTGGAAAAGCATTCCCTAATGTAGTGAGCGAGTGTTGAGAAATATTGAACACTCCTGGGACTGGGGTGTCTGCCAGATAGCGGGTGTGTCTCAGAATGGGTGATTTATGTTAGGGATGTCCCTGCGGAGGGTGCCCTAATCACTCCCCATTCTGCCCCAGTTCCAGAGGC
CTATTTATGCCCCACCAAGTTGCCCAGCAGAGGTGACAGGCGTGTCCCCAGCTGCCGCAGTGACAGTCCAGGGTGCTGACCTTGCTGTGACGGGGGCAGTCCTGACAGCTCACACTTGGCCCTGGAAAGTTGAATCACCTGGTCCTAATCTCAATGAAATGGTGATTTGGGTTTATTGTTGGTGAGCTCCCAGGGGCTAAACACAGTTATCGAATGTGAGGAGGGGACACATGAATGGGAGGTTGTCTAATGGACAGGGCAGGGTGTTAACTCTAGCAGGGACACCTAGGAGACAAGGAAGAGAGGGTGTCGCTGATTCAGGCACCTGCGAGTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTACTGAGTAGTTGGGACTACAGGCGCCCACCACGACACCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAGGTGATCCTCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAACCACCACACCCAGCCACCTGTGAGTTTTGAGTAAAGCATGGGTGCTTGAGAGAGTGATCAGGACAGAAAGGAGAGTGTGACAAGGCTGAGTGGCAGGGACTTTGTCCTGGGGGTGCTAGGGAGCCTGGGGAGGGCTGTAAGCAGGGGAGGGGCCAGGTCCTCTCTGTGCTGTGTGGGGGATAGGCTGTAGGGGACAGACAGGAGCTCAGGAGGCTGGGGAAATGGTTGGTGGGAGGAGATGAGGCCTGAGCCCTGTTGGCCATGAGAATGGAGAGGAGAGGCCCAAGTAGCATCAGGGGCAGGAGCGTGGGGCTGGATACTGACAGGCTGTGGCCAGCGAGGGAGAAGGAGGGAGGAAGGGAGGACGGCAAATGAGGTTTGGGCCTGTGACTGGGTGGATGGTGGGGCTCCCATCATGAGGAGCGTGGGAGCTGGTCTGGGCTCAGCATGGGACATGATGAATGGCCTGAGGAGATGGCTGGGGTAGGTGGAGGCTTGGGCCTGTGACTCAGGAAACATTTAGGAGACAGTTTCTATTTGGTGGCTGAAACCACAGAAATGCCTGCGACGGCTCTCTTTGAGAATGGCTGCCTCCTAGGGGTATGGGTGTGCCATAAGACTATCTTGGAGATGGAGAAGCAGAGATAGGGCCAGAATAGGATGGGGTCAGATCTGGGCTGCACCTTGTTCCCTGCTGGTAGTACCCTAGGGTTTTTTTTCTTTCTTTTTTCTTCCTTTTTTTTTTTTGTAGAGACAGGGAGTTCAAGGCCAGTCTGGTCTTGAACTCCAGGCGTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTTCTGGGAGTACAGGCGTGAGGCACCGCCCCAGCCTGATCCCCGAGTCTTTTGCTTGGCTGAGCCATAACCACGCACTCCCTTGTCCCCAGAGCCCTACAGCCCCGCCGTGTGGGTGATGATGTTCGTCATGTGCCTCACTGTGGTCGCCGTCACTGTTTTCATCTTCGAGTACCTCAGTCCTGTTGGTTACAACCGCAGCCTGGCCACGGGCAAGCGTGAGTCCCCCTTCCTCCATCCCCCGCCTCGGAGATCCCGAACCACAGAGACAGAGAACTACATTTCCCAGCAGCCCCTGGAGGGGGGGCGGTCAAGCTAGGGCCTCTCGGGAGGTGCCAGATGCCTTGAGGGCCACTGGGAATTGTAGTTCTTTCTTTTTTTTTTTTTCCCTTCCTTATTGAGAAGGGATTTGGGGTCCATGTCCACGTCCTGGCCCCCTGCAGGCCCTGGCGGTTCAACCTTCACCATTGGGAAATCCATCTGGCTGCTCTGGGCCCTGGTGTTCAATAATTCGGTGCCCGTGGAGAACCCCCGGGGAACCACCAGCAAAATCATGGTGCTGGTGTGGGCCTTCTTCGCCGTCATCTTCCTCGCCAGCTACACAGACAACCTGGCCGCCTTCATGATCCAGGAGGAGTACGTGGATACTGTGTCTGGGCTCAGTGACCGCAAGGTGTGTGTGGGCCCAGGGCTGGGCTGGAGCTGGGGCTGGGGCTGGAGGTCACAGAGCTTGTCATGTGGTAGATTAGAGGGGATTCTTGCGGGGGGCGGGGGTGAGAGGGGTGGGGGGAGGGCGGGAAGGGGTCTCTTCCCAAGGAGAATTCCAGAATGGTAGAATGGAATGTTGTGGATGAAGAAAGAACACGGTTCACGATGAGCTATTTAAAATATTCCTAGGGAAGAGGGTGTCCCTGAATGTTCTAGGGGCAGTTGTGTCAAATAGGATATTCTAGAACCAGTGCTTCTCTCAAACTGTGAGGAAGGATTAATTTTTGAAACTTCTAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTTCTAAAAGTACATAAAATTAGCCGGGCGTGGTGACAGGCACCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCCCCACTGCACTCCAGCCAGCGCGACAGAGTTAGACTCTGTCTCAAAAAAACAAAAAACTGCTAGTCCATTGCAGACAATGCTTTTGTAAAATTCAACGGAAATGAATTATTAGAAAAGTAAAATAAGATCTAAAACCAAGACAGACAAAAGTCAAACCTGGCCAGGAACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCAGGCGTGGTAGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCATGATTACGCCACAAATAGAACTGATTCCTAGCCTGGGTGACAGAGCGAGACTCTGCCTAAAAAAAAGCCAAACTCACATTTTTATTTATTAGATTCAACAGACGAAAAAGAATTCTGTCAAATCACTCTAAATGCTCACTCTCTCCATTCCTGTACACATCTCACTGCAATCACCGTTTGTTGAGGGACTGGTGGTTTGCAGAGCATACTTTGAGACTAAAGTGATTAACTAGCTGGGTGTCATGACCTATTAGAGGCTTGAGAAATCAGTTTGATGGGTTGCAATAAGCATTTTTTAATGGAATGGAGTAGAATAGAATAGTTGCCTGCATCTTATGTATAAGTTTGGTTTTACAAAACTTGTTTTAGTTGTCTGGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGGTAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAACTGGCTGGGCATGGTGGTATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCAGTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGACAGTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAGACTCCGTTTAAAAAAAAAAAAGTGAACTATTTCTGAACGGATTGGTAAATAGCAACAGCTCCCAGCTCCTGCCATGCCAGCCTCTACTCCCAGGACCTCCCGCGATTCAGTAAGTGAAGACTTAACACCTGGCACATCAGGGGCCTCAGGGAGGCTTCTCGTGAACTTTTGGATCACGTGTCTGCAACCGTGTGTGCTGGGTGGGAGTGGAAAAGCATTCCCTAATGTAGTGAGCGAGTGTTGAGAAATATTGAACACTCCTGGGACTGGGGTGTCTGCCAGATAGCGGGTGTGTCTCAGAATGGGTGATTTATGTTAGGGATGTCCCTGCGGAGGGTGCCCTAATCACTCCCCATTCTGCCCCAGTTCCAGAGGC
Task1_train_27442
The variant affects gene GRIN2D (glutamate ionotropic receptor NMDA type subunit 2D), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Developmental and epileptic encephalopathy, 46
TTGCCCAGCAGAGGTGACAGGCGTGTCCCCAGCTGCCGCAGTGACAGTCCAGGGTGCTGACCTTGCTGTGACGGGGGCAGTCCTGACAGCTCACACTTGGCCCTGGAAAGTTGAATCACCTGGTCCTAATCTCAATGAAATGGTGATTTGGGTTTATTGTTGGTGAGCTCCCAGGGGCTAAACACAGTTATCGAATGTGAGGAGGGGACACATGAATGGGAGGTTGTCTAATGGACAGGGCAGGGTGTTAACTCTAGCAGGGACACCTAGGAGACAAGGAAGAGAGGGTGTCGCTGATTCAGGCACCTGCGAGTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTACTGAGTAGTTGGGACTACAGGCGCCCACCACGACACCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAGGTGATCCTCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAACCACCACACCCAGCCACCTGTGAGTTTTGAGTAAAGCATGGGTGCTTGAGAGAGTGATCAGGACAGAAAGGAGAGTGTGACAAGGCTGAGTGGCAGGGACTTTGTCCTGGGGGTGCTAGGGAGCCTGGGGAGGGCTGTAAGCAGGGGAGGGGCCAGGTCCTCTCTGTGCTGTGTGGGGGATAGGCTGTAGGGGACAGACAGGAGCTCAGGAGGCTGGGGAAATGGTTGGTGGGAGGAGATGAGGCCTGAGCCCTGTTGGCCATGAGAATGGAGAGGAGAGGCCCAAGTAGCATCAGGGGCAGGAGCGTGGGGCTGGATACTGACAGGCTGTGGCCAGCGAGGGAGAAGGAGGGAGGAAGGGAGGACGGCAAATGAGGTTTGGGCCTGTGACTGGGTGGATGGTGGGGCTCCCATCATGAGGAGCGTGGGAGCTGGTCTGGGCTCAGCATGGGACATGATGAATGGCCTGAGGAGATGGCTGGGGTAGGTGGAGGCTTGGGCCTGTGACTCAGGAAACATTTAGGAGACAGTTTCTATTTGGTGGCTGAAACCACAGAAATGCCTGCGACGGCTCTCTTTGAGAATGGCTGCCTCCTAGGGGTATGGGTGTGCCATAAGACTATCTTGGAGATGGAGAAGCAGAGATAGGGCCAGAATAGGATGGGGTCAGATCTGGGCTGCACCTTGTTCCCTGCTGGTAGTACCCTAGGGTTTTTTTTCTTTCTTTTTTCTTCCTTTTTTTTTTTTGTAGAGACAGGGAGTTCAAGGCCAGTCTGGTCTTGAACTCCAGGCGTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTTCTGGGAGTACAGGCGTGAGGCACCGCCCCAGCCTGATCCCCGAGTCTTTTGCTTGGCTGAGCCATAACCACGCACTCCCTTGTCCCCAGAGCCCTACAGCCCCGCCGTGTGGGTGATGATGTTCGTCATGTGCCTCACTGTGGTCGCCGTCACTGTTTTCATCTTCGAGTACCTCAGTCCTGTTGGTTACAACCGCAGCCTGGCCACGGGCAAGCGTGAGTCCCCCTTCCTCCATCCCCCGCCTCGGAGATCCCGAACCACAGAGACAGAGAACTACATTTCCCAGCAGCCCCTGGAGGGGGGGCGGTCAAGCTAGGGCCTCTCGGGAGGTGCCAGATGCCTTGAGGGCCACTGGGAATTGTAGTTCTTTCTTTTTTTTTTTTTCCCTTCCTTATTGAGAAGGGATTTGGGGTCCATGTCCACGTCCTGGCCCCCTGCAGGCCCTGGCGGTTCAACCTTCACCATTGGGAAATCCATCTGGCTGCTCTGGGCCCTGGTGTTCAATAATTCGGTGCCCGTGGAGAACCCCCGGGGAACCACCAGCAAAATCATGGTGCTGGTGTGGGCCTTCTTCGCCGTCATCTTCCTCGCCAGCTACACAGCCAACCTGGCCGCCTTCATGATCCAGGAGGAGTACGTGGATACTGTGTCTGGGCTCAGTGACCGCAAGGTGTGTGTGGGCCCAGGGCTGGGCTGGAGCTGGGGCTGGGGCTGGAGGTCACAGAGCTTGTCATGTGGTAGATTAGAGGGGATTCTTGCGGGGGGCGGGGGTGAGAGGGGTGGGGGGAGGGCGGGAAGGGGTCTCTTCCCAAGGAGAATTCCAGAATGGTAGAATGGAATGTTGTGGATGAAGAAAGAACACGGTTCACGATGAGCTATTTAAAATATTCCTAGGGAAGAGGGTGTCCCTGAATGTTCTAGGGGCAGTTGTGTCAAATAGGATATTCTAGAACCAGTGCTTCTCTCAAACTGTGAGGAAGGATTAATTTTTGAAACTTCTAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTTCTAAAAGTACATAAAATTAGCCGGGCGTGGTGACAGGCACCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCCCCACTGCACTCCAGCCAGCGCGACAGAGTTAGACTCTGTCTCAAAAAAACAAAAAACTGCTAGTCCATTGCAGACAATGCTTTTGTAAAATTCAACGGAAATGAATTATTAGAAAAGTAAAATAAGATCTAAAACCAAGACAGACAAAAGTCAAACCTGGCCAGGAACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCAGGCGTGGTAGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCATGATTACGCCACAAATAGAACTGATTCCTAGCCTGGGTGACAGAGCGAGACTCTGCCTAAAAAAAAGCCAAACTCACATTTTTATTTATTAGATTCAACAGACGAAAAAGAATTCTGTCAAATCACTCTAAATGCTCACTCTCTCCATTCCTGTACACATCTCACTGCAATCACCGTTTGTTGAGGGACTGGTGGTTTGCAGAGCATACTTTGAGACTAAAGTGATTAACTAGCTGGGTGTCATGACCTATTAGAGGCTTGAGAAATCAGTTTGATGGGTTGCAATAAGCATTTTTTAATGGAATGGAGTAGAATAGAATAGTTGCCTGCATCTTATGTATAAGTTTGGTTTTACAAAACTTGTTTTAGTTGTCTGGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGGTAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAACTGGCTGGGCATGGTGGTATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCAGTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGACAGTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAGACTCCGTTTAAAAAAAAAAAAGTGAACTATTTCTGAACGGATTGGTAAATAGCAACAGCTCCCAGCTCCTGCCATGCCAGCCTCTACTCCCAGGACCTCCCGCGATTCAGTAAGTGAAGACTTAACACCTGGCACATCAGGGGCCTCAGGGAGGCTTCTCGTGAACTTTTGGATCACGTGTCTGCAACCGTGTGTGCTGGGTGGGAGTGGAAAAGCATTCCCTAATGTAGTGAGCGAGTGTTGAGAAATATTGAACACTCCTGGGACTGGGGTGTCTGCCAGATAGCGGGTGTGTCTCAGAATGGGTGATTTATGTTAGGGATGTCCCTGCGGAGGGTGCCCTAATCACTCCCCATTCTGCCCCAGTTCCAGAGGCCCCAGGAGCAGTACCCGCC
TTGCCCAGCAGAGGTGACAGGCGTGTCCCCAGCTGCCGCAGTGACAGTCCAGGGTGCTGACCTTGCTGTGACGGGGGCAGTCCTGACAGCTCACACTTGGCCCTGGAAAGTTGAATCACCTGGTCCTAATCTCAATGAAATGGTGATTTGGGTTTATTGTTGGTGAGCTCCCAGGGGCTAAACACAGTTATCGAATGTGAGGAGGGGACACATGAATGGGAGGTTGTCTAATGGACAGGGCAGGGTGTTAACTCTAGCAGGGACACCTAGGAGACAAGGAAGAGAGGGTGTCGCTGATTCAGGCACCTGCGAGTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTACTGAGTAGTTGGGACTACAGGCGCCCACCACGACACCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAGGTGATCCTCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAACCACCACACCCAGCCACCTGTGAGTTTTGAGTAAAGCATGGGTGCTTGAGAGAGTGATCAGGACAGAAAGGAGAGTGTGACAAGGCTGAGTGGCAGGGACTTTGTCCTGGGGGTGCTAGGGAGCCTGGGGAGGGCTGTAAGCAGGGGAGGGGCCAGGTCCTCTCTGTGCTGTGTGGGGGATAGGCTGTAGGGGACAGACAGGAGCTCAGGAGGCTGGGGAAATGGTTGGTGGGAGGAGATGAGGCCTGAGCCCTGTTGGCCATGAGAATGGAGAGGAGAGGCCCAAGTAGCATCAGGGGCAGGAGCGTGGGGCTGGATACTGACAGGCTGTGGCCAGCGAGGGAGAAGGAGGGAGGAAGGGAGGACGGCAAATGAGGTTTGGGCCTGTGACTGGGTGGATGGTGGGGCTCCCATCATGAGGAGCGTGGGAGCTGGTCTGGGCTCAGCATGGGACATGATGAATGGCCTGAGGAGATGGCTGGGGTAGGTGGAGGCTTGGGCCTGTGACTCAGGAAACATTTAGGAGACAGTTTCTATTTGGTGGCTGAAACCACAGAAATGCCTGCGACGGCTCTCTTTGAGAATGGCTGCCTCCTAGGGGTATGGGTGTGCCATAAGACTATCTTGGAGATGGAGAAGCAGAGATAGGGCCAGAATAGGATGGGGTCAGATCTGGGCTGCACCTTGTTCCCTGCTGGTAGTACCCTAGGGTTTTTTTTCTTTCTTTTTTCTTCCTTTTTTTTTTTTGTAGAGACAGGGAGTTCAAGGCCAGTCTGGTCTTGAACTCCAGGCGTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTTCTGGGAGTACAGGCGTGAGGCACCGCCCCAGCCTGATCCCCGAGTCTTTTGCTTGGCTGAGCCATAACCACGCACTCCCTTGTCCCCAGAGCCCTACAGCCCCGCCGTGTGGGTGATGATGTTCGTCATGTGCCTCACTGTGGTCGCCGTCACTGTTTTCATCTTCGAGTACCTCAGTCCTGTTGGTTACAACCGCAGCCTGGCCACGGGCAAGCGTGAGTCCCCCTTCCTCCATCCCCCGCCTCGGAGATCCCGAACCACAGAGACAGAGAACTACATTTCCCAGCAGCCCCTGGAGGGGGGGCGGTCAAGCTAGGGCCTCTCGGGAGGTGCCAGATGCCTTGAGGGCCACTGGGAATTGTAGTTCTTTCTTTTTTTTTTTTTCCCTTCCTTATTGAGAAGGGATTTGGGGTCCATGTCCACGTCCTGGCCCCCTGCAGGCCCTGGCGGTTCAACCTTCACCATTGGGAAATCCATCTGGCTGCTCTGGGCCCTGGTGTTCAATAATTCGGTGCCCGTGGAGAACCCCCGGGGAACCACCAGCAAAATCATGGTGCTGGTGTGGGCCTTCTTCGCCGTCATCTTCCTCGCCAGCTACACAGCCAACCTGGCCGCCTTCATCATCCAGGAGGAGTACGTGGATACTGTGTCTGGGCTCAGTGACCGCAAGGTGTGTGTGGGCCCAGGGCTGGGCTGGAGCTGGGGCTGGGGCTGGAGGTCACAGAGCTTGTCATGTGGTAGATTAGAGGGGATTCTTGCGGGGGGCGGGGGTGAGAGGGGTGGGGGGAGGGCGGGAAGGGGTCTCTTCCCAAGGAGAATTCCAGAATGGTAGAATGGAATGTTGTGGATGAAGAAAGAACACGGTTCACGATGAGCTATTTAAAATATTCCTAGGGAAGAGGGTGTCCCTGAATGTTCTAGGGGCAGTTGTGTCAAATAGGATATTCTAGAACCAGTGCTTCTCTCAAACTGTGAGGAAGGATTAATTTTTGAAACTTCTAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTTCTAAAAGTACATAAAATTAGCCGGGCGTGGTGACAGGCACCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCCCCACTGCACTCCAGCCAGCGCGACAGAGTTAGACTCTGTCTCAAAAAAACAAAAAACTGCTAGTCCATTGCAGACAATGCTTTTGTAAAATTCAACGGAAATGAATTATTAGAAAAGTAAAATAAGATCTAAAACCAAGACAGACAAAAGTCAAACCTGGCCAGGAACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCAGGCGTGGTAGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCATGATTACGCCACAAATAGAACTGATTCCTAGCCTGGGTGACAGAGCGAGACTCTGCCTAAAAAAAAGCCAAACTCACATTTTTATTTATTAGATTCAACAGACGAAAAAGAATTCTGTCAAATCACTCTAAATGCTCACTCTCTCCATTCCTGTACACATCTCACTGCAATCACCGTTTGTTGAGGGACTGGTGGTTTGCAGAGCATACTTTGAGACTAAAGTGATTAACTAGCTGGGTGTCATGACCTATTAGAGGCTTGAGAAATCAGTTTGATGGGTTGCAATAAGCATTTTTTAATGGAATGGAGTAGAATAGAATAGTTGCCTGCATCTTATGTATAAGTTTGGTTTTACAAAACTTGTTTTAGTTGTCTGGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGGTAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAACTGGCTGGGCATGGTGGTATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCAGTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGACAGTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAGACTCCGTTTAAAAAAAAAAAAGTGAACTATTTCTGAACGGATTGGTAAATAGCAACAGCTCCCAGCTCCTGCCATGCCAGCCTCTACTCCCAGGACCTCCCGCGATTCAGTAAGTGAAGACTTAACACCTGGCACATCAGGGGCCTCAGGGAGGCTTCTCGTGAACTTTTGGATCACGTGTCTGCAACCGTGTGTGCTGGGTGGGAGTGGAAAAGCATTCCCTAATGTAGTGAGCGAGTGTTGAGAAATATTGAACACTCCTGGGACTGGGGTGTCTGCCAGATAGCGGGTGTGTCTCAGAATGGGTGATTTATGTTAGGGATGTCCCTGCGGAGGGTGCCCTAATCACTCCCCATTCTGCCCCAGTTCCAGAGGCCCCAGGAGCAGTACCCGCC
Task1_train_27443
This mutation occurs in GRIN2D (glutamate ionotropic receptor NMDA type subunit 2D) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Developmental and epileptic encephalopathy, 46
GCAGTGACAGTCCAGGGTGCTGACCTTGCTGTGACGGGGGCAGTCCTGACAGCTCACACTTGGCCCTGGAAAGTTGAATCACCTGGTCCTAATCTCAATGAAATGGTGATTTGGGTTTATTGTTGGTGAGCTCCCAGGGGCTAAACACAGTTATCGAATGTGAGGAGGGGACACATGAATGGGAGGTTGTCTAATGGACAGGGCAGGGTGTTAACTCTAGCAGGGACACCTAGGAGACAAGGAAGAGAGGGTGTCGCTGATTCAGGCACCTGCGAGTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTACTGAGTAGTTGGGACTACAGGCGCCCACCACGACACCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAGGTGATCCTCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAACCACCACACCCAGCCACCTGTGAGTTTTGAGTAAAGCATGGGTGCTTGAGAGAGTGATCAGGACAGAAAGGAGAGTGTGACAAGGCTGAGTGGCAGGGACTTTGTCCTGGGGGTGCTAGGGAGCCTGGGGAGGGCTGTAAGCAGGGGAGGGGCCAGGTCCTCTCTGTGCTGTGTGGGGGATAGGCTGTAGGGGACAGACAGGAGCTCAGGAGGCTGGGGAAATGGTTGGTGGGAGGAGATGAGGCCTGAGCCCTGTTGGCCATGAGAATGGAGAGGAGAGGCCCAAGTAGCATCAGGGGCAGGAGCGTGGGGCTGGATACTGACAGGCTGTGGCCAGCGAGGGAGAAGGAGGGAGGAAGGGAGGACGGCAAATGAGGTTTGGGCCTGTGACTGGGTGGATGGTGGGGCTCCCATCATGAGGAGCGTGGGAGCTGGTCTGGGCTCAGCATGGGACATGATGAATGGCCTGAGGAGATGGCTGGGGTAGGTGGAGGCTTGGGCCTGTGACTCAGGAAACATTTAGGAGACAGTTTCTATTTGGTGGCTGAAACCACAGAAATGCCTGCGACGGCTCTCTTTGAGAATGGCTGCCTCCTAGGGGTATGGGTGTGCCATAAGACTATCTTGGAGATGGAGAAGCAGAGATAGGGCCAGAATAGGATGGGGTCAGATCTGGGCTGCACCTTGTTCCCTGCTGGTAGTACCCTAGGGTTTTTTTTCTTTCTTTTTTCTTCCTTTTTTTTTTTTGTAGAGACAGGGAGTTCAAGGCCAGTCTGGTCTTGAACTCCAGGCGTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTTCTGGGAGTACAGGCGTGAGGCACCGCCCCAGCCTGATCCCCGAGTCTTTTGCTTGGCTGAGCCATAACCACGCACTCCCTTGTCCCCAGAGCCCTACAGCCCCGCCGTGTGGGTGATGATGTTCGTCATGTGCCTCACTGTGGTCGCCGTCACTGTTTTCATCTTCGAGTACCTCAGTCCTGTTGGTTACAACCGCAGCCTGGCCACGGGCAAGCGTGAGTCCCCCTTCCTCCATCCCCCGCCTCGGAGATCCCGAACCACAGAGACAGAGAACTACATTTCCCAGCAGCCCCTGGAGGGGGGGCGGTCAAGCTAGGGCCTCTCGGGAGGTGCCAGATGCCTTGAGGGCCACTGGGAATTGTAGTTCTTTCTTTTTTTTTTTTTCCCTTCCTTATTGAGAAGGGATTTGGGGTCCATGTCCACGTCCTGGCCCCCTGCAGGCCCTGGCGGTTCAACCTTCACCATTGGGAAATCCATCTGGCTGCTCTGGGCCCTGGTGTTCAATAATTCGGTGCCCGTGGAGAACCCCCGGGGAACCACCAGCAAAATCATGGTGCTGGTGTGGGCCTTCTTCGCCGTCATCTTCCTCGCCAGCTACACAGCCAACCTGGCCGCCTTCATGATCCAGGAGGAGTACGTGGATACTGTGTCTGGGCTCAGTGACCGCAAGGTGTGTGTGGGCCCAGGGCTGGGCTGGAGCTGGGGCTGGGGCTGGAGGTCACAGAGCTTGTCATGTGGTAGATTAGAGGGGATTCTTGCGGGGGGCGGGGGTGAGAGGGGTGGGGGGAGGGCGGGAAGGGGTCTCTTCCCAAGGAGAATTCCAGAATGGTAGAATGGAATGTTGTGGATGAAGAAAGAACACGGTTCACGATGAGCTATTTAAAATATTCCTAGGGAAGAGGGTGTCCCTGAATGTTCTAGGGGCAGTTGTGTCAAATAGGATATTCTAGAACCAGTGCTTCTCTCAAACTGTGAGGAAGGATTAATTTTTGAAACTTCTAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTTCTAAAAGTACATAAAATTAGCCGGGCGTGGTGACAGGCACCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCCCCACTGCACTCCAGCCAGCGCGACAGAGTTAGACTCTGTCTCAAAAAAACAAAAAACTGCTAGTCCATTGCAGACAATGCTTTTGTAAAATTCAACGGAAATGAATTATTAGAAAAGTAAAATAAGATCTAAAACCAAGACAGACAAAAGTCAAACCTGGCCAGGAACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCAGGCGTGGTAGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCATGATTACGCCACAAATAGAACTGATTCCTAGCCTGGGTGACAGAGCGAGACTCTGCCTAAAAAAAAGCCAAACTCACATTTTTATTTATTAGATTCAACAGACGAAAAAGAATTCTGTCAAATCACTCTAAATGCTCACTCTCTCCATTCCTGTACACATCTCACTGCAATCACCGTTTGTTGAGGGACTGGTGGTTTGCAGAGCATACTTTGAGACTAAAGTGATTAACTAGCTGGGTGTCATGACCTATTAGAGGCTTGAGAAATCAGTTTGATGGGTTGCAATAAGCATTTTTTAATGGAATGGAGTAGAATAGAATAGTTGCCTGCATCTTATGTATAAGTTTGGTTTTACAAAACTTGTTTTAGTTGTCTGGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGGTAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAACTGGCTGGGCATGGTGGTATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCAGTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGACAGTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAGACTCCGTTTAAAAAAAAAAAAGTGAACTATTTCTGAACGGATTGGTAAATAGCAACAGCTCCCAGCTCCTGCCATGCCAGCCTCTACTCCCAGGACCTCCCGCGATTCAGTAAGTGAAGACTTAACACCTGGCACATCAGGGGCCTCAGGGAGGCTTCTCGTGAACTTTTGGATCACGTGTCTGCAACCGTGTGTGCTGGGTGGGAGTGGAAAAGCATTCCCTAATGTAGTGAGCGAGTGTTGAGAAATATTGAACACTCCTGGGACTGGGGTGTCTGCCAGATAGCGGGTGTGTCTCAGAATGGGTGATTTATGTTAGGGATGTCCCTGCGGAGGGTGCCCTAATCACTCCCCATTCTGCCCCAGTTCCAGAGGCCCCAGGAGCAGTACCCGCCCCTGAAGTTTGGGACCGTGCCCAACGGCTCCACGGAG
GCAGTGACAGTCCAGGGTGCTGACCTTGCTGTGACGGGGGCAGTCCTGACAGCTCACACTTGGCCCTGGAAAGTTGAATCACCTGGTCCTAATCTCAATGAAATGGTGATTTGGGTTTATTGTTGGTGAGCTCCCAGGGGCTAAACACAGTTATCGAATGTGAGGAGGGGACACATGAATGGGAGGTTGTCTAATGGACAGGGCAGGGTGTTAACTCTAGCAGGGACACCTAGGAGACAAGGAAGAGAGGGTGTCGCTGATTCAGGCACCTGCGAGTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTACTGAGTAGTTGGGACTACAGGCGCCCACCACGACACCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAGGTGATCCTCCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAACCACCACACCCAGCCACCTGTGAGTTTTGAGTAAAGCATGGGTGCTTGAGAGAGTGATCAGGACAGAAAGGAGAGTGTGACAAGGCTGAGTGGCAGGGACTTTGTCCTGGGGGTGCTAGGGAGCCTGGGGAGGGCTGTAAGCAGGGGAGGGGCCAGGTCCTCTCTGTGCTGTGTGGGGGATAGGCTGTAGGGGACAGACAGGAGCTCAGGAGGCTGGGGAAATGGTTGGTGGGAGGAGATGAGGCCTGAGCCCTGTTGGCCATGAGAATGGAGAGGAGAGGCCCAAGTAGCATCAGGGGCAGGAGCGTGGGGCTGGATACTGACAGGCTGTGGCCAGCGAGGGAGAAGGAGGGAGGAAGGGAGGACGGCAAATGAGGTTTGGGCCTGTGACTGGGTGGATGGTGGGGCTCCCATCATGAGGAGCGTGGGAGCTGGTCTGGGCTCAGCATGGGACATGATGAATGGCCTGAGGAGATGGCTGGGGTAGGTGGAGGCTTGGGCCTGTGACTCAGGAAACATTTAGGAGACAGTTTCTATTTGGTGGCTGAAACCACAGAAATGCCTGCGACGGCTCTCTTTGAGAATGGCTGCCTCCTAGGGGTATGGGTGTGCCATAAGACTATCTTGGAGATGGAGAAGCAGAGATAGGGCCAGAATAGGATGGGGTCAGATCTGGGCTGCACCTTGTTCCCTGCTGGTAGTACCCTAGGGTTTTTTTTCTTTCTTTTTTCTTCCTTTTTTTTTTTTGTAGAGACAGGGAGTTCAAGGCCAGTCTGGTCTTGAACTCCAGGCGTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTTCTGGGAGTACAGGCGTGAGGCACCGCCCCAGCCTGATCCCCGAGTCTTTTGCTTGGCTGAGCCATAACCACGCACTCCCTTGTCCCCAGAGCCCTACAGCCCCGCCGTGTGGGTGATGATGTTCGTCATGTGCCTCACTGTGGTCGCCGTCACTGTTTTCATCTTCGAGTACCTCAGTCCTGTTGGTTACAACCGCAGCCTGGCCACGGGCAAGCGTGAGTCCCCCTTCCTCCATCCCCCGCCTCGGAGATCCCGAACCACAGAGACAGAGAACTACATTTCCCAGCAGCCCCTGGAGGGGGGGCGGTCAAGCTAGGGCCTCTCGGGAGGTGCCAGATGCCTTGAGGGCCACTGGGAATTGTAGTTCTTTCTTTTTTTTTTTTTCCCTTCCTTATTGAGAAGGGATTTGGGGTCCATGTCCACGTCCTGGCCCCCTGCAGGCCCTGGCGGTTCAACCTTCACCATTGGGAAATCCATCTGGCTGCTCTGGGCCCTGGTGTTCAATAATTCGGTGCCCGTGGAGAACCCCCGGGGAACCACCAGCAAAATCATGGTGCTGGTGTGGGCCTTCTTCGCCGTCATCTTCCTCGCCAGCTACACAGCCAACCTGGCCGCCTTCATGATCCAGGAGGAGTACGTGGATACTGTGTCTGGGCTCCGTGACCGCAAGGTGTGTGTGGGCCCAGGGCTGGGCTGGAGCTGGGGCTGGGGCTGGAGGTCACAGAGCTTGTCATGTGGTAGATTAGAGGGGATTCTTGCGGGGGGCGGGGGTGAGAGGGGTGGGGGGAGGGCGGGAAGGGGTCTCTTCCCAAGGAGAATTCCAGAATGGTAGAATGGAATGTTGTGGATGAAGAAAGAACACGGTTCACGATGAGCTATTTAAAATATTCCTAGGGAAGAGGGTGTCCCTGAATGTTCTAGGGGCAGTTGTGTCAAATAGGATATTCTAGAACCAGTGCTTCTCTCAAACTGTGAGGAAGGATTAATTTTTGAAACTTCTAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACGTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTTCTAAAAGTACATAAAATTAGCCGGGCGTGGTGACAGGCACCTGTAGTCCCAGCTACCCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCCCCACTGCACTCCAGCCAGCGCGACAGAGTTAGACTCTGTCTCAAAAAAACAAAAAACTGCTAGTCCATTGCAGACAATGCTTTTGTAAAATTCAACGGAAATGAATTATTAGAAAAGTAAAATAAGATCTAAAACCAAGACAGACAAAAGTCAAACCTGGCCAGGAACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCGTCTCTAATAAAAATACAAAAATTAGCCAGGCGTGGTAGTGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTACAGTGAGCCATGATTACGCCACAAATAGAACTGATTCCTAGCCTGGGTGACAGAGCGAGACTCTGCCTAAAAAAAAGCCAAACTCACATTTTTATTTATTAGATTCAACAGACGAAAAAGAATTCTGTCAAATCACTCTAAATGCTCACTCTCTCCATTCCTGTACACATCTCACTGCAATCACCGTTTGTTGAGGGACTGGTGGTTTGCAGAGCATACTTTGAGACTAAAGTGATTAACTAGCTGGGTGTCATGACCTATTAGAGGCTTGAGAAATCAGTTTGATGGGTTGCAATAAGCATTTTTTAATGGAATGGAGTAGAATAGAATAGTTGCCTGCATCTTATGTATAAGTTTGGTTTTACAAAACTTGTTTTAGTTGTCTGGGCGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACCTGAGGTTGGTAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAACTGGCTGGGCATGGTGGTATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCAGTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGACAGTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAGACTCCGTTTAAAAAAAAAAAAGTGAACTATTTCTGAACGGATTGGTAAATAGCAACAGCTCCCAGCTCCTGCCATGCCAGCCTCTACTCCCAGGACCTCCCGCGATTCAGTAAGTGAAGACTTAACACCTGGCACATCAGGGGCCTCAGGGAGGCTTCTCGTGAACTTTTGGATCACGTGTCTGCAACCGTGTGTGCTGGGTGGGAGTGGAAAAGCATTCCCTAATGTAGTGAGCGAGTGTTGAGAAATATTGAACACTCCTGGGACTGGGGTGTCTGCCAGATAGCGGGTGTGTCTCAGAATGGGTGATTTATGTTAGGGATGTCCCTGCGGAGGGTGCCCTAATCACTCCCCATTCTGCCCCAGTTCCAGAGGCCCCAGGAGCAGTACCCGCCCCTGAAGTTTGGGACCGTGCCCAACGGCTCCACGGAG
Task1_train_27444
The gene SULT2B1 (sulfotransferase family 2B member 1) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Autosomal recessive congenital ichthyosis 1
TCAACGACTTAGCAAAACTCATAGTGTTCAGCAAAGCTGCTGGACTCCCGGGTTATAGTCAATTACAATGAAAGCAAACGTGAAAATCAGGCAAGGGGGCCGGGCGCGGTGGCTCACGCCTGAAATCCCAGCACTTTCAGAGGCCAAGGTGAGCAGTTGATTGAGCCCAGGAGTTCAAGACCAGCTGGGCAACTTAGAAACACCCATCTCTACAAAAAAGTTTAAAAATTCGTCACGTGTAGTGGCATACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAAGATCACTTGAGCCTGGGAGTTTCAGGCTGCAGTGAGCCATGATTGTGCCACAGGCACTCCAGCCTCAAGGACAGAACAAGACCTTGTTTCTTTTCTTTTTTCTTTTTCTTTCTTTTTTCTTTTTTTGAGACAGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTGCCCCTCTGCCTCCAGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCGCCCACCACCATGCCCAGCTAATTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACACCTGACCTCAGGTGATCCACCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACAGTGCCTGGCCGACAAGACCTTGTTTCTAAAAAATAAGACTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAAGCAGATGGATCACTTGAGGCCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACCCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGAGACACAGCGAGACTTCGTCTAAAACAAAACAAAACAAAACAAAAAAATCCAAGGGATTAGGAAATACCTCTCAGGACCTAGGGGCAAGGGCCAGGCCTTTCTCTGGGCAGAAAGGAATCCTCTACAGCACAGGAATCAGGAAGGAGCCCTGGAAAGCACCAATGTTATTACAAGACCTCACACCAGCAGCCACGTTTCTCTAAGTCTGTTTTCATTTAGTTTTTGGTGGATCTGGGGGTGTTTTGTTTTGTTTTTTGGTTTATTTGTTTTTGAGGCAGGGTCTCGTTCTGTCATGTAGGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGTGATCCTCCTGCCTTAGCCTCCCGAGTAGCTGGGACCACGGGCACGCACCACCACATCAGCTAATTTTTGTATTCTTTGTAGAATGGGGGTCTCATTATGTTGTCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTTATCCTCCTGTCTCGTCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGCAGCTGGCCAAGTGTTCTTTCTCAGCCTCCCTCCCTTTATGCCTTTGTCATTCCCTCAAGCAATTTCCAGAACCTCCTGTGTGTGGGGCTCTGGGCTAAGGCTCTAGGAACGTGTAAGACCTTGCCTGTCCTCAAGGGGTTCCTCAATCTGTGAGTAACCAACATGGTAAAACCCCATCTCTACTAAACATACAAAAATTATCCTGATGTGGTGGCACGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGACACAGGAGAATCGCCTGAACCCAGGAGGCAGAGGTTGCAATGAGCTGAGATGGCGCCACTGCACTCCAGCCTGGGCGAAACAGAGTCAGACTCCATCGCAAAAAAAAAAGAGTCTGCCCTGAGTCCTTCCTGCTTCAGGGTCAGAAGAGAGGGGTCTCCAGGGCAGGAGGCCTCAGGGGCTGGGGTCTTGCCTGTGTCTGACGCCTTCTCCCCTCTCCTCACCATCCGCACACAGGTGATCTACATGGGCCGCAACCCCCGGGACGTTGTGGTCTCCCTCTATCATTACTCCAAGATCGCCGGGCAGTTAAAGGACCCGGGCACACCCGACCAGTTCCTGAGGGACTTCCTCAAAGGCGAAGGTGGGGACAGGGTAAAGCGGGGCAGGAGGGGTGGGGAGGAGCCCCAGAGGACCCTGATGGGCAGAGGGACAGAGGAGGGGTAAGAAAGGGAGAGAGACAGAGACACAGGGCATCAAAAGGGGCAATAGAGACAGAGAGCAGGTGGCCAGGAGAAGAGACGGAGGGAGAGAGGCTGAGAGACCGAAAGACACAGGACAGGCAAAGGACAGAGGAGACAGAGACAGGGAGAGACACAGATACAAAAAGACTGAGAGAGAGGGCAACAAAAGAGACAGGGGCCCGGCATGGTGGCTCATGCGTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCTTGAACTTGGGAGGTGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAAAATAAAAAATAAAAAGAGATAAGGAAATAAATGCAGAAAGAGAGATGGAGTCAGAGAGAGACAGGGAGAGACAAGGAAACAGGAGGAGACAGGCCCCTGGTACTAAGAAAGGCAGCGCCCTTTGGCCACGTGTTCCTTTCTCTGCTGCTGTCAGAGACCCTGGCTTTGGAGGGAAATCCAGGTGTGTGGAGGCGGACTGGATGGACAGATAGACAAAGGCCCCCCAAGATGGGCAACCAGGGGAGAAGCAGGTTGGAAGAGCCCCAGAACTTGGTGGAAATGTGGGGGCTCTGGGGGAGGGCATCCAGCTCTGGGGGCTGGACCTGGGGGTTTGTGGGGCACAGCTAGTTAGACCCATGAGCCCCAGTGGGGCTGGGGGAACCCCGCCACTCAGCCCTCACCCCACTTGTCCCTCTGCCCACAGTGCAGTTTGGCTCCTGGTTCGACCACATTAAGGGCTGGCTTCGGATGAAGGGCAAAGACAACTTCCTATTTATCACCTACGAGGAGCTGCAGCAGGTGAGTCCCCACCTCCTCCAGGTGCAGCGTCCCCCCCATACCCTCTGCTCACACCCCACACTCTCCCCTTCCCGAGGGTCTCAGGACCCCTCCGCTTCCCCATGCAATGCGCCAGCCCCTGGGGATACTGCAGGAACAGAACAGAGGCCCTGAGCCTGTGAGCAAGACCACAGACAAAATCCCTAAACCACACAGCAGGCTGGCGGGGCAGAGGAGCTGAGGAGCAAAGGCGAGTGGGAAGGAAGATAAGGAATGGTCAGGGGCGAGATTTAACCCAGGAGGGTTGGCCGGACACAGTGGTAGTGGCTCACACCTGTAATCCTAATGCTTTGGGAGCCTGAGGCGGGAGGACCCCTTGAGCCCAAGAGGTCAAGGCCACAATGAGCTATGATGGTGCCACTGTACTCCGGCCTGGGCAGCAGAGCAAAACCCTGTCTCAAAAGAGAGAGAGAAGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGCCCAAGGCAGGTGGATCACTTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCACAGTGGCACATGCCTGTAGTCCCAGCTGCTCAGGAGGCTAAGGCAGGAGAATGGCTTGAACCTGGGAGGTGGAGGTTGCAGTGGGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTGTTCCAAAAAATAGAAAGAAAAAAGATTGAACCACATGAAATGCCTGCATTCAACCAGTTTTTATTTATTTTTATTTATTTTATTTAATTAATTTATTTATTTTTGAGACAGAGTTTCGCTCTTGTGGCCCA
TCAACGACTTAGCAAAACTCATAGTGTTCAGCAAAGCTGCTGGACTCCCGGGTTATAGTCAATTACAATGAAAGCAAACGTGAAAATCAGGCAAGGGGGCCGGGCGCGGTGGCTCACGCCTGAAATCCCAGCACTTTCAGAGGCCAAGGTGAGCAGTTGATTGAGCCCAGGAGTTCAAGACCAGCTGGGCAACTTAGAAACACCCATCTCTACAAAAAAGTTTAAAAATTCGTCACGTGTAGTGGCATACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAAGATCACTTGAGCCTGGGAGTTTCAGGCTGCAGTGAGCCATGATTGTGCCACAGGCACTCCAGCCTCAAGGACAGAACAAGACCTTGTTTCTTTTCTTTTTTCTTTTTCTTTCTTTTTTCTTTTTTTGAGACAGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTGCCCCTCTGCCTCCAGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAATAGCTGGGATTACAGGCGCCCACCACCATGCCCAGCTAATTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACACCTGACCTCAGGTGATCCACCCGCCTTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACAGTGCCTGGCCGACAAGACCTTGTTTCTAAAAAATAAGACTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAAGCAGATGGATCACTTGAGGCCGGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACCCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGAGACACAGCGAGACTTCGTCTAAAACAAAACAAAACAAAACAAAAAAATCCAAGGGATTAGGAAATACCTCTCAGGACCTAGGGGCAAGGGCCAGGCCTTTCTCTGGGCAGAAAGGAATCCTCTACAGCACAGGAATCAGGAAGGAGCCCTGGAAAGCACCAATGTTATTACAAGACCTCACACCAGCAGCCACGTTTCTCTAAGTCTGTTTTCATTTAGTTTTTGGTGGATCTGGGGGTGTTTTGTTTTGTTTTTTGGTTTATTTGTTTTTGAGGCAGGGTCTCGTTCTGTCATGTAGGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGCAGCCTCGACCTCCCGGGCTCAAGTGATCCTCCTGCCTTAGCCTCCCGAGTAGCTGGGACCACGGGCACGCACCACCACATCAGCTAATTTTTGTATTCTTTGTAGAATGGGGGTCTCATTATGTTGTCCAGGCTGGTCTCAAACTCCTGGGTTCAAGTTATCCTCCTGTCTCGTCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGCAGCTGGCCAAGTGTTCTTTCTCAGCCTCCCTCCCTTTATGCCTTTGTCATTCCCTCAAGCAATTTCCAGAACCTCCTGTGTGTGGGGCTCTGGGCTAAGGCTCTAGGAACGTGTAAGACCTTGCCTGTCCTCAAGGGGTTCCTCAATCTGTGAGTAACCAACATGGTAAAACCCCATCTCTACTAAACATACAAAAATTATCCTGATGTGGTGGCACGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGACACAGGAGAATCGCCTGAACCCAGGAGGCAGAGGTTGCAATGAGCTGAGATGGCGCCACTGCACTCCAGCCTGGGCGAAACAGAGTCAGACTCCATCGCAAAAAAAAAAGAGTCTGCCCTGAGTCCTTCCTGCTTCAGGGTCAGAAGAGAGGGGTCTCCAGGGCAGGAGGCCTCAGGGGCTGGGGTCTTGCCTGTGTCTGACGCCTTCTCCCCTCTCCTCACCATCCGCACACAGGTGATCTACATGGGCCGCAACCTCCGGGACGTTGTGGTCTCCCTCTATCATTACTCCAAGATCGCCGGGCAGTTAAAGGACCCGGGCACACCCGACCAGTTCCTGAGGGACTTCCTCAAAGGCGAAGGTGGGGACAGGGTAAAGCGGGGCAGGAGGGGTGGGGAGGAGCCCCAGAGGACCCTGATGGGCAGAGGGACAGAGGAGGGGTAAGAAAGGGAGAGAGACAGAGACACAGGGCATCAAAAGGGGCAATAGAGACAGAGAGCAGGTGGCCAGGAGAAGAGACGGAGGGAGAGAGGCTGAGAGACCGAAAGACACAGGACAGGCAAAGGACAGAGGAGACAGAGACAGGGAGAGACACAGATACAAAAAGACTGAGAGAGAGGGCAACAAAAGAGACAGGGGCCCGGCATGGTGGCTCATGCGTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCTTGAACTTGGGAGGTGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAAAATAAAAAATAAAAAGAGATAAGGAAATAAATGCAGAAAGAGAGATGGAGTCAGAGAGAGACAGGGAGAGACAAGGAAACAGGAGGAGACAGGCCCCTGGTACTAAGAAAGGCAGCGCCCTTTGGCCACGTGTTCCTTTCTCTGCTGCTGTCAGAGACCCTGGCTTTGGAGGGAAATCCAGGTGTGTGGAGGCGGACTGGATGGACAGATAGACAAAGGCCCCCCAAGATGGGCAACCAGGGGAGAAGCAGGTTGGAAGAGCCCCAGAACTTGGTGGAAATGTGGGGGCTCTGGGGGAGGGCATCCAGCTCTGGGGGCTGGACCTGGGGGTTTGTGGGGCACAGCTAGTTAGACCCATGAGCCCCAGTGGGGCTGGGGGAACCCCGCCACTCAGCCCTCACCCCACTTGTCCCTCTGCCCACAGTGCAGTTTGGCTCCTGGTTCGACCACATTAAGGGCTGGCTTCGGATGAAGGGCAAAGACAACTTCCTATTTATCACCTACGAGGAGCTGCAGCAGGTGAGTCCCCACCTCCTCCAGGTGCAGCGTCCCCCCCATACCCTCTGCTCACACCCCACACTCTCCCCTTCCCGAGGGTCTCAGGACCCCTCCGCTTCCCCATGCAATGCGCCAGCCCCTGGGGATACTGCAGGAACAGAACAGAGGCCCTGAGCCTGTGAGCAAGACCACAGACAAAATCCCTAAACCACACAGCAGGCTGGCGGGGCAGAGGAGCTGAGGAGCAAAGGCGAGTGGGAAGGAAGATAAGGAATGGTCAGGGGCGAGATTTAACCCAGGAGGGTTGGCCGGACACAGTGGTAGTGGCTCACACCTGTAATCCTAATGCTTTGGGAGCCTGAGGCGGGAGGACCCCTTGAGCCCAAGAGGTCAAGGCCACAATGAGCTATGATGGTGCCACTGTACTCCGGCCTGGGCAGCAGAGCAAAACCCTGTCTCAAAAGAGAGAGAGAAGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGCCCAAGGCAGGTGGATCACTTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCACAGTGGCACATGCCTGTAGTCCCAGCTGCTCAGGAGGCTAAGGCAGGAGAATGGCTTGAACCTGGGAGGTGGAGGTTGCAGTGGGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTGTTCCAAAAAATAGAAAGAAAAAAGATTGAACCACATGAAATGCCTGCATTCAACCAGTTTTTATTTATTTTTATTTATTTTATTTAATTAATTTATTTATTTTTGAGACAGAGTTTCGCTCTTGTGGCCCA
Task1_train_27445
Located on Chromosome 19, this mutation impacts SULT2B1 (sulfotransferase family 2B member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Autosomal recessive congenital ichthyosis 2
AAAATTAGCCAGGCATGGTGGTGCATGCCTATAATCCCAGCAGCTACTTTGGAGGCTGAGGCAGGAGAATCACTGGAACCCAGGAGGTGGAGGTTGCAGTAAGCTGAGATAGCACCACTGCACTCCAGCCTGGGTGACAGAGCCAGGCTTAGTCTCATTGTAATCCCAGCACTTTGGGAGGCCGAAGTGAGCAGATCACCCGAGGGTGGGAGTTCGAGACTACCCTGACCAACATGGAGAAACCCTGTCTTTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTGAGACGAGATCATGCCATTGCACTCCAGCCTGGACAAAAAGAGCGAAACTCCGTCTAAAAAAAAAAAGGCAGAGGGGCACAGGGGAGGACTAAGGGCTCCAGGGACCTGAGCTCCTCTCTGGCTGTGTGGCCTTGGACAAGTGTCTCTCCCTCTCTGGGCCTCTGTTTACCAATTGAGATAATGACACTTCCCTTGCAAAGCTGATGGTGGGATCGGCACAAATGTATGGGGGGCTTGGATCAGAGCTTGGTACATAGTAGACACTCAGAAAGGAAGGTGATATTTGAGCTGCAGCCGTGGCAATGGGCCCTTCTGGAAGCCCCATGCCAAGGCCCAGAGGGAGGAATGTGTAGGGAATGGTGAGTCCCAGAAGGAGAGGGTGGGAAAGGTATTGGAAGAGCTGTGACCAGACCACATCTGTTTTTTGGGTTTTTTTTTGTTGTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGCCACCCAGGCTGTAGTATAGTGGTGAGATCTCGGCTCACTGCAAACTCCACCTCCCAGTTCAAACGATTCTCCTGCCTCAGTCTCCCGAGCACCTGGGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTGTTAGTAGAAACAGGGTTTTACCATGTTGGCCAGACTGGTCTCGAACTCCCGACACCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACTGCACCTGCCCCACATCTGTGCTTGAAAGCCGGGTCTGGGTCTGGGACTGTGTCCCAGGGCACTCGGGAGCCACGGAAGAGTTGGGAGCCAGTGAGGAGCAGGGTCAGCTGGGGTGTGGGGGATGAGCTGGAGGGGGATGGAGACTGGAGGCAGGAAGGCTGTGGAGCAGCCGGCTGCTGAGGCATGGATCCAGGAAGGGGAGGATGAGGCCTAAGCAGTTCTAGGCTACAGGGACACAGAGGAGGGGATATGGCAAGGGGAGGCAGGTGGGGAGGGACAGGGCTCATGATGGACAGGTTTTGGGGGTGAGGGGTACCCAGAGAGGGAGGCCAGGCTCCTGGGTGGATGGTGGGGCCATCCTGCAATGGGGGCCTGGGGGAGGAGCAGGTTTGAGATGTAGACCAGCCAATGCCTGTCTCTAACCTGAAGGAGGGTGATTCCAGGTAAGGTGATGCACTGACCTCTGCCCCCGGATGTGACCTCTGCCCCCCACTGTGACCTCTGCCCCCGGCTGTGACCTCTGCCCCCTGCTGTGACCTCTGCCCCCTGCTGTGACCTCTGCCCCAAGCCCACCTATTCCCTCCCACCTAGAGAACCCTCCAAAGACAGAAACTGCAAAAACCCTTAGAGGCGATATAGCCCAACCCCTCAGTTTGGAGTTGGGGAAACTGAGGCAAAGAGGCAGCGTCCCTCAGGCAGCCCCAGGTTAGGACCCAGACATGCGGATCCCAGGTTCCACGCTCCTTCCTTGGCCGAGTGCCCTCCCTCCGCTGACCCCTCTCCCCTGCCTGCAGGACTTACAGGGCTCCGTGGAGCGCATCTGTGGGTTCCTGGGCCGTCCGCTGGGCAAGGAGGCACTGGGCTCCGTCGTGGCACACTCAACCTTCAGCGCCATGAAGGCCAACACCATGTCCAACTACACGCTGCTGCCTCCCAGCCTGCTGGACCACCGTCGCGGGGCCTTCCTCCGGAAAGGTGCGGGGGTTCTGGGGTTCAGAGCCCACTAGGCCACTGCCCGGCTGTGTGACCTGGGAGAGTTACTTAACCTCTCTGGGCCTCAGTTTCTCACCCAGCTGTAACATTGGGTGAACAGGGTCACTGTGGCCCCAGGGTTGATCACGCACGGGGCTTAGCACTGACTCAGCACACGTGCCAGCCACCCGAGGCGTCCCCATCCAGAGAACTCCCAACGACAGCAAAACATCCAGGAGTACTGCCAACGCCAGGTTTACCCGAGAGAGATTTAGAGTCTTCATGAGTCCTCCTCGACGGCCATGTTCACGGCAGAAATACTCAAGCCCTGGGTTACGGGGCGCAGGCGGTAGCATAGTTGTTTCCTCTTCCTGCTGTAACAAAAACACCGCAAACTCCATGACTCAAAACACGTTTACTCTTTTTTTTTTTTTTTTTTTTGAAAGAGTCTCGCTCTGTCGCCCAGGCTGGCTGGAGGTTGCAGTGGCGCGATCTCGGCTCACTGCGACCTCCACCTCCCAGGTTCAAGTGATTCTCCTTCCTCAGCATCCTTAAGTAGCTGAGACTACAGGCACCTGAAACCATGTCAGGTTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGTCAGGATGGTCTCAATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTCTTTTTTCTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGTGACTATAGGCACCCACCACCACGCCTGGCTAATTTTTTGTATTTCTAGTAGAGACAGGTTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCACCCGCCTCTTCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCGCCCGGCCAAGTGAAGCATCTTCTAATCTCTGACCCTCCTCCCTTCTATAGGGACCCAGGTGATGACACTGAGCCCACCCAGATACTTCAGGGTCCTCTCCCCATCTCCAGATCTTTAGCTTAATCCTATCTGCAAAATCCCTTTTGCCACATAAGGTCACATATTCACAGGTTCCAAGGATTAGGACGTGGATATGGAGGGAGTCTTTATTCAGCCCACCCCAGGGAACCCCTCCCCACAACCTCATTAAGGGTGCTGGGTAACATGGGGCACGTGCACTTGCCAAAAGGCAAACTACGGTCCTCTGAATGCCATGAGCCCCAGGTTTCCAGGTGAGGGGTGATGCCCCTGTGATAGCCCCACAATGAGAAAACTGAGGCTTGGGAGGGGTGCCGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGACCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTTAAACGCCATCTCTACTAAAAATATAAAAATTAGCCGGGCGTGGTGGTGCGTGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCGGAGGTTGCAGTGAGCCGTGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAGAAAAAAAATGGAAAACTGAGGCTTGGAGGGTTCCTGAGGCTCGCTTGCTGCGCCAATCAGCAAATTGTTTGCAAGCCCTGAGCACAGAGCCTGCAGAAGGGGGTCCCTTCCATGTCCAAGCAGTAATGGCTGCAGCATGGAGCGTTGTGGGGGCATTGAGACAGGAGGCCTTGTTCTAGCAGGGGAGGTTTGGGACTGGTCGCAGAGGAGGTGACACAAGCTGTAAGGTGGGCAGGAATTCAGGGTTGGAGGCAGAGGTTCTGGGCAGAGACTTAAAGGGTCCGGGATAAAGGGGAGGACTGGCAGGAATCCTGCAGTAGCAGAGGCAGTGAGGGCGGAGGTGAGAACGGCGCCAGGTGACAGGCCAAGACT
AAAATTAGCCAGGCATGGTGGTGCATGCCTATAATCCCAGCAGCTACTTTGGAGGCTGAGGCAGGAGAATCACTGGAACCCAGGAGGTGGAGGTTGCAGTAAGCTGAGATAGCACCACTGCACTCCAGCCTGGGTGACAGAGCCAGGCTTAGTCTCATTGTAATCCCAGCACTTTGGGAGGCCGAAGTGAGCAGATCACCCGAGGGTGGGAGTTCGAGACTACCCTGACCAACATGGAGAAACCCTGTCTTTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTGAGACGAGATCATGCCATTGCACTCCAGCCTGGACAAAAAGAGCGAAACTCCGTCTAAAAAAAAAAAGGCAGAGGGGCACAGGGGAGGACTAAGGGCTCCAGGGACCTGAGCTCCTCTCTGGCTGTGTGGCCTTGGACAAGTGTCTCTCCCTCTCTGGGCCTCTGTTTACCAATTGAGATAATGACACTTCCCTTGCAAAGCTGATGGTGGGATCGGCACAAATGTATGGGGGGCTTGGATCAGAGCTTGGTACATAGTAGACACTCAGAAAGGAAGGTGATATTTGAGCTGCAGCCGTGGCAATGGGCCCTTCTGGAAGCCCCATGCCAAGGCCCAGAGGGAGGAATGTGTAGGGAATGGTGAGTCCCAGAAGGAGAGGGTGGGAAAGGTATTGGAAGAGCTGTGACCAGACCACATCTGTTTTTTGGGTTTTTTTTTGTTGTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGCCACCCAGGCTGTAGTATAGTGGTGAGATCTCGGCTCACTGCAAACTCCACCTCCCAGTTCAAACGATTCTCCTGCCTCAGTCTCCCGAGCACCTGGGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTGTTAGTAGAAACAGGGTTTTACCATGTTGGCCAGACTGGTCTCGAACTCCCGACACCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACTGCACCTGCCCCACATCTGTGCTTGAAAGCCGGGTCTGGGTCTGGGACTGTGTCCCAGGGCACTCGGGAGCCACGGAAGAGTTGGGAGCCAGTGAGGAGCAGGGTCAGCTGGGGTGTGGGGGATGAGCTGGAGGGGGATGGAGACTGGAGGCAGGAAGGCTGTGGAGCAGCCGGCTGCTGAGGCATGGATCCAGGAAGGGGAGGATGAGGCCTAAGCAGTTCTAGGCTACAGGGACACAGAGGAGGGGATATGGCAAGGGGAGGCAGGTGGGGAGGGACAGGGCTCATGATGGACAGGTTTTGGGGGTGAGGGGTACCCAGAGAGGGAGGCCAGGCTCCTGGGTGGATGGTGGGGCCATCCTGCAATGGGGGCCTGGGGGAGGAGCAGGTTTGAGATGTAGACCAGCCAATGCCTGTCTCTAACCTGAAGGAGGGTGATTCCAGGTAAGGTGATGCACTGACCTCTGCCCCCGGATGTGACCTCTGCCCCCCACTGTGACCTCTGCCCCCGGCTGTGACCTCTGCCCCCTGCTGTGACCTCTGCCCCCTGCTGTGACCTCTGCCCCAAGCCCACCTATTCCCTCCCACCTAGAGAACCCTCCAAAGACAGAAACTGCAAAAACCCTTAGAGGCGATATAGCCCAACCCCTCAGTTTGGAGTTGGGGAAACTGAGGCAAAGAGGCAGCGTCCCTCAGGCAGCCCCAGGTTAGGACCCAGACATGCGGATCCCAGGTTCCACGCTCCTTCCTTGGCCGAGTGCCCTCCCTCCGCTGACCCCTCTCCCCTGCCTGCAGGACTTACAGGGCTCCGTGGAGCGCATCTGTGGGTTCCTGGGCCGTCCGCTGGGCAAGGAGGCACTGGGCTCCGTCGTGGCACACTCAACCTTCAGCGCCATGAAGGCCAACACCATGTCCAACTACACGCTGCTGCCTCCCAGCCTGCTGGACCACCGTCGCGGGGCCTTCCTCCAGAAAGGTGCGGGGGTTCTGGGGTTCAGAGCCCACTAGGCCACTGCCCGGCTGTGTGACCTGGGAGAGTTACTTAACCTCTCTGGGCCTCAGTTTCTCACCCAGCTGTAACATTGGGTGAACAGGGTCACTGTGGCCCCAGGGTTGATCACGCACGGGGCTTAGCACTGACTCAGCACACGTGCCAGCCACCCGAGGCGTCCCCATCCAGAGAACTCCCAACGACAGCAAAACATCCAGGAGTACTGCCAACGCCAGGTTTACCCGAGAGAGATTTAGAGTCTTCATGAGTCCTCCTCGACGGCCATGTTCACGGCAGAAATACTCAAGCCCTGGGTTACGGGGCGCAGGCGGTAGCATAGTTGTTTCCTCTTCCTGCTGTAACAAAAACACCGCAAACTCCATGACTCAAAACACGTTTACTCTTTTTTTTTTTTTTTTTTTTGAAAGAGTCTCGCTCTGTCGCCCAGGCTGGCTGGAGGTTGCAGTGGCGCGATCTCGGCTCACTGCGACCTCCACCTCCCAGGTTCAAGTGATTCTCCTTCCTCAGCATCCTTAAGTAGCTGAGACTACAGGCACCTGAAACCATGTCAGGTTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGTCAGGATGGTCTCAATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTCTTTTTTCTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGTGACTATAGGCACCCACCACCACGCCTGGCTAATTTTTTGTATTTCTAGTAGAGACAGGTTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCACCCGCCTCTTCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCGCCCGGCCAAGTGAAGCATCTTCTAATCTCTGACCCTCCTCCCTTCTATAGGGACCCAGGTGATGACACTGAGCCCACCCAGATACTTCAGGGTCCTCTCCCCATCTCCAGATCTTTAGCTTAATCCTATCTGCAAAATCCCTTTTGCCACATAAGGTCACATATTCACAGGTTCCAAGGATTAGGACGTGGATATGGAGGGAGTCTTTATTCAGCCCACCCCAGGGAACCCCTCCCCACAACCTCATTAAGGGTGCTGGGTAACATGGGGCACGTGCACTTGCCAAAAGGCAAACTACGGTCCTCTGAATGCCATGAGCCCCAGGTTTCCAGGTGAGGGGTGATGCCCCTGTGATAGCCCCACAATGAGAAAACTGAGGCTTGGGAGGGGTGCCGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGACCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTTAAACGCCATCTCTACTAAAAATATAAAAATTAGCCGGGCGTGGTGGTGCGTGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCGGAGGTTGCAGTGAGCCGTGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAGAAAAAAAATGGAAAACTGAGGCTTGGAGGGTTCCTGAGGCTCGCTTGCTGCGCCAATCAGCAAATTGTTTGCAAGCCCTGAGCACAGAGCCTGCAGAAGGGGGTCCCTTCCATGTCCAAGCAGTAATGGCTGCAGCATGGAGCGTTGTGGGGGCATTGAGACAGGAGGCCTTGTTCTAGCAGGGGAGGTTTGGGACTGGTCGCAGAGGAGGTGACACAAGCTGTAAGGTGGGCAGGAATTCAGGGTTGGAGGCAGAGGTTCTGGGCAGAGACTTAAAGGGTCCGGGATAAAGGGGAGGACTGGCAGGAATCCTGCAGTAGCAGAGGCAGTGAGGGCGGAGGTGAGAACGGCGCCAGGTGACAGGCCAAGACT
Task1_train_27446
The gene RPL18 (ribosomal protein L18) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Diamond-Blackfan anemia 18
TAACACACACAGAGCACTGTCAGCAAAAATCTTTTTAATAAGAGAGTAGGATCCAGGGTTAGTTTTTGTAGCCTCGGCTGGCCCGTCGGCCTCTGGCACGCTCGAACTTCCGGCCCTTGGAGCGGACGTAGGGTCTGTGGGGAGAGGAGGGAGTGAGAGGGGGGCCCTCTTAAAGGAGGCCATTGTGGAGTGGCACAGGAACACCACAAGCCTGTCACATTCAGCCCCAGGAGAGTCAATGCTGCTGGAAAAGCTTGGCAGAGTGGGAAGCCAAGGAGCCAGGAGGGGCTATGGAAGCACCTGCCCCACCACCTGGAGGGTCCCAGCCTGGGCTGGCAAAGGCCGGTGAACTGCATGCTCCCCAGGAGATGCCTGCTCAGGCCCTGGAAAACACAGCTCCAAGCAGTGTTGAAGGGAAAAGCAGGCAGGATGAGGCAGCTGAGAGTTCCAGAAGGCCTGGGGCTGGCTGGTACGAGGGATAGGAGAAGCAGCCCAAGTGTGGCCAGGCCTGGCCCTGCAGGCTGAGTCTGGGGAGAGGGCAGGGCTGGGGGCCTGATACTCACTTGGTGTGGCTGTGCGGGGTTCCTGGGGCCTTGCCGAAATGCCGGTACACCTCTCGGCCCTTGCGAGGACCTAGGGAAGGGGAAGGAGAACCGGGTGAGACAGGGATCTGGCGCCCAGCTTCTGGCCTCCCAGATCCAGGAGGGTGAAGGCTGCCAGTAGCCACACAGCTCAGTCCAAACCCGTCGACCACGTATCACTCACCGGAGAGCAGGACAGTGCCACAGCCCTTAGGGGAGTCCAGGGCCAGCTGGTCGAAAGTGAGGATCTTGCCCCCTGCCCTGAGGATGCGGCTGCGGGCCCGGCTGGTCACGCGCAGTGCACATACCTGGTGGAGAGGACAAGGCTGGCGGGTCAGACCCCTGCGTGGTCACCCAGGGGCTGCCAGGACTCACCCTCCACTGCCTTGGCGCAGCAGAGCCCTGGTAACCAACACTATCGTTTACTACCCGGAGCACCCTGGGCTGACAGCAGCAGTTCTCAACACTTCCGGAACTTTCACCACCACATCCCTGGTGTTATGCTAGAAACTACAGCAAGGAAGCTGGGCCAAAAAAAGACCTGTGCAGAGGTGACAAAGGAGTCTAGACTTGAGCCCAGGCTGTCTGGCTCTAGGGGCCAGCACTAACAGTTTACAACTTGCCCCAGAAGAAGCTTGCCCAGGGGACCCCACCATCAACCATGCCAGAGACGACCCACACCAATCCTCAAAGCCACTCAGACAGGCAGGATGCTTGCCTCACCAGCGGTGGCAAGACTGAGGATGGACCAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGTACAGCAAGGGTCTGATGGGTCTGCCCAGCCCCCGCCAGCTCACCTTCAGTTTGGGTACCTCCTGAACCCGCACATCATCAGTTATGGTCCCCACAACCACGGCCGTCTTGTTTTCCCGGCCAGGAAGCTTCATCTTCCGGATCTTAGGGTGGGGAGGATGTACGTCGTAAGTTGTTCTGGTGTTTACATTCAGCCCCGCTTGAGGCATCCCCAGGCCAGGGCAGCTGTGCCCTCTAACGGGACCCCCCACTCACACCACACCCCTTAAACCCCACAGGCCTCTCCTCAGGTCCAGCTGGGGAAAGCTCCAGATAAAAAAAAAAATGCAGACTGTTCAATAGGGCCTCCCTCAGCAGAGCCTTTGACATAAAACTCAGTTATGACTTGGGGCAATCTCCTGAAGCCACCAGGACACCTCCACCTCACAAAGAGAAGGAGAGGAGGACCAGGAGACTTGCCCACTGCCCATGGACACTCAGTTCCAACCAACAGTCCAAGCTCTACGCTCGCGACTGGCTGAGACAAACCCTTGATGCCCTGGTTGCTCCCAGAGCTCCAAGTCCTGCCTCCCTTCCAGACAGACAAGACCCAGCGGCTCCCAGGTCTACCGTGCTCTCTGGACCAGCCACTCACCATCCGGGAAAGGGACAGAGGCGGCCGGTTGGTGCGACTCATAAACAACCTCTTCAACACAACCTGGTTGAATGTGGAGTTGGTTCTTCTGGCCAGAAACCTGTATAACTGGAGGGACGGGAAGACAGTGAGAAGCTGGGACAGCCTGCTCCCCCGCAGCCTTCCAGTGAAGGGGCAAACACATGATGATCTGGACTAAAATAATCTTTATCCCTTTCCCCCAACCCACCGACCTAGAGGGAGAAAGCTGGCCCAGGTCCTTCCTGGCCAAGGACCTAGAAAATCCTGGCTCCACTCCCGAGCTGTACACAGCCTAGAGGCTGAAAATACAAATGCAGGAGACCCTGGAACAGAACCAGAGACCCGAGACTGCTCTGCAGGCCCCTGGGAGGAGCTTGGTGCCAGCACTAGAATGGAGGATCTGCAAGTCAGACCTGGGGTGACCCTTCCCAAAGACCTCAGGGCCCAGCCTCACCTTGACCAACAGCCTCAGGTAGATATCCTGGCTCTTGGGCTCCTTGCGCCGAACCTTTCGGTCCTTGTTATGGCGGATGTCCACTCCCTGTGGGGGTGAAGAGGCAACCATGGACCCAATTACCCCCAACCATAGCCAATTATTACTTATTTCTGAAACTGAGAGCTGGGACACAAGCCCAGGTCTGAACACACCAGCTCAAATCCCAGGCCCACCACCAGGAGACCTGTGGGCTGCCACTGATCCCTCTGTAAAAAGGGGCTGTTTACAAAGCCTTCAGCCCATGGCACACAGAACCCTGAAACATCGTAACACAGCAATCATATTAACTTAATACAAAAAGGTCAATTCTTTACAACTTGTATTTTGCAACAATGTTATCAAAACTGGTTCCCATACCCGGAGGGATAACCAAAAATATCAAACCAATGGCAGTAATGATGAAAACGAATCCTTATTCAGAACCTAGCAATACTACTAGAACCACCTCTCCTACAGCATCAGTCAATCCAACAACCCTTACCAAATAGTGTCTTTTTAAAACATCGTTTTTAAAGTGGAGACAGGGTCTCACAATATTGGCCAGGCTGGTCTTGATCTCCTGGGCAAGGAATCCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATAACAAGCGTGAGCCGCCTCGCCAGGCTCCTACCGCCCTGCTGCCTTTCTGAGCAACTTAAGTTTTTCAGACTGTGTTGACAATTACAAGAACTATTTAATAGCTCCACTTATGCAGCACTTACTGTGTGCAAAACCCCGTGATGAGCATCTCCTGTGAATTATTTCTTCCCAAATTCACAAACTTGTCAGATGAGATTACTGTGTACCCAACGAACAGCCAGACACTGGGGCAAAGGCTCAAAAACCATCACAAGGTGGGAAGGGGCCTGAGACTCAGAGACCTGCCTGGTCCCCAAATCCAGTTATTCGGCTCTCGATCCTCTCACCCGCCGCGGCCCCCATCGAACCCGACTTTTCATACTAGAAAGTGACAGGTCCAGATAAAGGCAGCAAAGCCAAATAACTAAGAGTGGCTGCGGGTCCAGCCACCTGGGTCGGAATCCTGGCTCTGCCACTTCCTGGCTTTGTAAACCCAGTCATATCAGCCTCCGAGTACCTCCACTTGGTCATCTACTAAGTGGGGGCGGTAGGCTATGACTGACCCATCCCTGCTTTCCTGGCCCCCAGAGTAGGTCCCCAGTATCGGGAATTGCTCCCTCCGGGCAGCCGCAGACCCCCTGCCGCCCTCCAGCGTGCCCCTAGCCCAAAACCACGGCGGATGGCAGCGGATTATCCAGCCCCGAACGCCGCAAAGCGAGCTCACCATGATGGCGCCTCCTGCTCGGCCAGGTCCGGAAAGAGAGAACGGGCTGGGGTGGGCGGGGAAAGCCTCAAGCGAGTGGCGCCGCCGTGACGTCACATGGGTGCGACGCGGCGCTCTACCACGATCCGGACTTCTCTGTGGTGAGTTGGACGACTGACTAGCCGGGCGATAACGGCAGAGAGCATAGAGCGCAGGAACAAGCGCAACGTCCAAGAGGGAAGGGCCAGCACGTCGGGGGCCTCTCTGGCCCTACCCAGGCCGTGTTCTCG
TAACACACACAGAGCACTGTCAGCAAAAATCTTTTTAATAAGAGAGTAGGATCCAGGGTTAGTTTTTGTAGCCTCGGCTGGCCCGTCGGCCTCTGGCACGCTCGAACTTCCGGCCCTTGGAGCGGACGTAGGGTCTGTGGGGAGAGGAGGGAGTGAGAGGGGGGCCCTCTTAAAGGAGGCCATTGTGGAGTGGCACAGGAACACCACAAGCCTGTCACATTCAGCCCCAGGAGAGTCAATGCTGCTGGAAAAGCTTGGCAGAGTGGGAAGCCAAGGAGCCAGGAGGGGCTATGGAAGCACCTGCCCCACCACCTGGAGGGTCCCAGCCTGGGCTGGCAAAGGCCGGTGAACTGCATGCTCCCCAGGAGATGCCTGCTCAGGCCCTGGAAAACACAGCTCCAAGCAGTGTTGAAGGGAAAAGCAGGCAGGATGAGGCAGCTGAGAGTTCCAGAAGGCCTGGGGCTGGCTGGTACGAGGGATAGGAGAAGCAGCCCAAGTGTGGCCAGGCCTGGCCCTGCAGGCTGAGTCTGGGGAGAGGGCAGGGCTGGGGGCCTGATACTCACTTGGTGTGGCTGTGCGGGGTTCCTGGGGCCTTGCCGAAATGCCGGTACACCTCTCGGCCCTTGCGAGGACCTAGGGAAGGGGAAGGAGAACCGGGTGAGACAGGGATCTGGCGCCCAGCTTCTGGCCTCCCAGATCCAGGAGGGTGAAGGCTGCCAGTAGCCACACAGCTCAGTCCAAACCCGTCGACCACGTATCACTCACCGGAGAGCAGGACAGTGCCACAGCCCTTAGGGGAGTCCAGGGCCAGCTGGTCGAAAGTGAGGATCTTGCCCCCTGCCCTGAGGATGCGGCTGCGGGCCCGGCTGGTCACGCGCAGTGCACATACCTGGTGGAGAGGACAAGGCTGGCGGGTCAGACCCCTGCGTGGTCACCCAGGGGCTGCCAGGACTCACCCTCCACTGCCTTGGCGCAGCAGAGCCCTGGTAACCAACACTATCGTTTACTACCCGGAGCACCCTGGGCTGACAGCAGCAGTTCTCAACACTTCCGGAACTTTCACCACCACATCCCTGGTGTTATGCTAGAAACTACAGCAAGGAAGCTGGGCCAAAAAAAGACCTGTGCAGAGGTGACAAAGGAGTCTAGACTTGAGCCCAGGCTGTCTGGCTCTAGGGGCCAGCACTAACAGTTTACAACTTGCCCCAGAAGAAGCTTGCCCAGGGGACCCCACCATCAACCATGCCAGAGACGACCCACACCAATCCTCAAAGCCACTCAGACAGGCAGGATGCTTGCCTCACCAGCGGTGGCAAGACTGAGGATGGACCAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGTACAGCAAGGGTCTGATGGGTCTGCCCAGCCCCCGCCAGCTCACCTTCAGTTTGGGTACCTCCTGAACCCGCACATCATCAGTTATGGTCCCCACAACCACGGCCGTCTTGTTTTCCCGGCCAGGAAGCTTCATCTTCCGGATCTTAGGGTGGGGAGGATGTACGTCGTAAGTTGTTCTGGTGTTTACATTCAGCCCCGCTTGAGGCATCCCCAGGCCAGGGCAGCTGTGCCCTCTAACGGGACCCCCCACTCACACCACACCCCTTAAACCCCACAGGCCTCTCCTCAGGTCCAGCTGGGGAAAGCTCCAGATAAAAAAAAAAATGCAGACTGTTCAATAGGGCCTCCCTCAGCAGAGCCTTTGACATAAAACTCAGTTATGACTTGGGGCAATCTCCTGAAGCCACCAGGACACCTCCACCTCACAAAGAGAAGGAGAGGAGGACCAGGAGACTTGCCCACTGCCCATGGACACTCAGTTCCAACCAACAGTCCAAGCTCTACGCTCGCGACTGGCTGAGACAAACCCTTGATGCCCTGGTTGCTCCCAGAGCTCCAAGTCCTGCCTCCCTTCCAGACAGACAAGACCCAGCGGCTCCCAGGTCTACCGTGCTCTCTGGACCAGCCACTCACCATCCGGGAAAGGGACAGAGGCGGCCGGTTGGTGCGACTCATAAACGACCTCTTCAACACAACCTGGTTGAATGTGGAGTTGGTTCTTCTGGCCAGAAACCTGTATAACTGGAGGGACGGGAAGACAGTGAGAAGCTGGGACAGCCTGCTCCCCCGCAGCCTTCCAGTGAAGGGGCAAACACATGATGATCTGGACTAAAATAATCTTTATCCCTTTCCCCCAACCCACCGACCTAGAGGGAGAAAGCTGGCCCAGGTCCTTCCTGGCCAAGGACCTAGAAAATCCTGGCTCCACTCCCGAGCTGTACACAGCCTAGAGGCTGAAAATACAAATGCAGGAGACCCTGGAACAGAACCAGAGACCCGAGACTGCTCTGCAGGCCCCTGGGAGGAGCTTGGTGCCAGCACTAGAATGGAGGATCTGCAAGTCAGACCTGGGGTGACCCTTCCCAAAGACCTCAGGGCCCAGCCTCACCTTGACCAACAGCCTCAGGTAGATATCCTGGCTCTTGGGCTCCTTGCGCCGAACCTTTCGGTCCTTGTTATGGCGGATGTCCACTCCCTGTGGGGGTGAAGAGGCAACCATGGACCCAATTACCCCCAACCATAGCCAATTATTACTTATTTCTGAAACTGAGAGCTGGGACACAAGCCCAGGTCTGAACACACCAGCTCAAATCCCAGGCCCACCACCAGGAGACCTGTGGGCTGCCACTGATCCCTCTGTAAAAAGGGGCTGTTTACAAAGCCTTCAGCCCATGGCACACAGAACCCTGAAACATCGTAACACAGCAATCATATTAACTTAATACAAAAAGGTCAATTCTTTACAACTTGTATTTTGCAACAATGTTATCAAAACTGGTTCCCATACCCGGAGGGATAACCAAAAATATCAAACCAATGGCAGTAATGATGAAAACGAATCCTTATTCAGAACCTAGCAATACTACTAGAACCACCTCTCCTACAGCATCAGTCAATCCAACAACCCTTACCAAATAGTGTCTTTTTAAAACATCGTTTTTAAAGTGGAGACAGGGTCTCACAATATTGGCCAGGCTGGTCTTGATCTCCTGGGCAAGGAATCCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATAACAAGCGTGAGCCGCCTCGCCAGGCTCCTACCGCCCTGCTGCCTTTCTGAGCAACTTAAGTTTTTCAGACTGTGTTGACAATTACAAGAACTATTTAATAGCTCCACTTATGCAGCACTTACTGTGTGCAAAACCCCGTGATGAGCATCTCCTGTGAATTATTTCTTCCCAAATTCACAAACTTGTCAGATGAGATTACTGTGTACCCAACGAACAGCCAGACACTGGGGCAAAGGCTCAAAAACCATCACAAGGTGGGAAGGGGCCTGAGACTCAGAGACCTGCCTGGTCCCCAAATCCAGTTATTCGGCTCTCGATCCTCTCACCCGCCGCGGCCCCCATCGAACCCGACTTTTCATACTAGAAAGTGACAGGTCCAGATAAAGGCAGCAAAGCCAAATAACTAAGAGTGGCTGCGGGTCCAGCCACCTGGGTCGGAATCCTGGCTCTGCCACTTCCTGGCTTTGTAAACCCAGTCATATCAGCCTCCGAGTACCTCCACTTGGTCATCTACTAAGTGGGGGCGGTAGGCTATGACTGACCCATCCCTGCTTTCCTGGCCCCCAGAGTAGGTCCCCAGTATCGGGAATTGCTCCCTCCGGGCAGCCGCAGACCCCCTGCCGCCCTCCAGCGTGCCCCTAGCCCAAAACCACGGCGGATGGCAGCGGATTATCCAGCCCCGAACGCCGCAAAGCGAGCTCACCATGATGGCGCCTCCTGCTCGGCCAGGTCCGGAAAGAGAGAACGGGCTGGGGTGGGCGGGGAAAGCCTCAAGCGAGTGGCGCCGCCGTGACGTCACATGGGTGCGACGCGGCGCTCTACCACGATCCGGACTTCTCTGTGGTGAGTTGGACGACTGACTAGCCGGGCGATAACGGCAGAGAGCATAGAGCGCAGGAACAAGCGCAACGTCCAAGAGGGAAGGGCCAGCACGTCGGGGGCCTCTCTGGCCCTACCCAGGCCGTGTTCTCG
Task1_train_27447
Gene FUT1 (fucosyltransferase 1 (H blood group)) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Para-Bombay phenotype
AGACTGTGAACAGAGCAAGACGCTGGCCAACTAGAGATGGTTTGTTTTCCATCTCAATTTTTCCAGCAATGGTGGAACATTCATTAGATGCTACAATTAGGTTGCACATTCATTAGATTCTTCACTTGGCCCGGTGTGCTGGCTCACATCTATAAACCCAGCATTCTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCCCAGGAGTTGAAGAACAGCCTGGGCAATATCACAAGACCTCGTCTCTACAAAAATTAAAAAAAATTATCCGGGCCAGGCATGGTGGCTCACGCCGGTAATCCCAGCACTGTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCTGGCCTGGGCTACAGAGCAAGACTCCGTCTCAATAAATAAATAAATAAATAAATAATTAAAAAAAAAATATCCGGGCTGGGCACAGTGGCTCATGCCAGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATGACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATAATGGCCTGTGCCTGTAGTCCCATCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACACAGGAGGCGGAAGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCCAAAAAAAAAAAAAAAAAACTAAAAAGATTCTTCACCTTAGTTATCTGGATTTCCAGAACCCCATCCTGTCCATAAGGGCCCTGCAGGGTTCTTCACAGGCATCAAACCTGGTCCTCTCTAGAACAAGTCTCCCTCTAGAATCACTCCAGAAACACAGAAGGGGACTTGGTGAATGCTTGCTCTGGAGCAATCATATGCTCCTTCAGTCTTTGGAGGACCCAGGGGAGAAGTAACCCCTCTTCTAGAGTAGACCAGAGGGAGAGTTCCCCATTCCTGGGGGCAGCCATCTGGAAGTACTGTAGATATGGGCTGGGAAGAGCAGGTGGGCACTGTGGCTTCTAGAACTGCCTGCCAGCCATCAGGAAAAGATGTTTTGCTAGTTCTAGAATATTCAGACAGTTCCAGAAACGTCCCCCTTCTCTCCAACTCTCCCAACTAGAATCACTCTGGATACGGGCACCCATTTGCTTCAGGAACACCACAAGCTTCTCCAGAAGATGCCAGGCCTCTGAAGCCACGTACTGCTGGCTCTAGAAAGATCAGGCTACTTCAGAAAGTCTCCCTGGCTCTCAAGGCTTAGCCAATGTCCAGAGTGGAGACAAGTCTGCATTAATGCCCACCCACTCGGGCAGGAAGGCCGCCTCCGGCTTAAAGATCTTCAGGAACTCAGAGTCTGGCAGGGTGAAGTTGGCCAGGTAGACAGTGTCTCCGCCAGCCAGGTAGGCAGCCCAGAAGCCGAAGGTGCCAATGGTCATAATGGTGTGGTTGCACTGTGTGAGCAGGGCAAAGTCTTTCCACGGTGTAGCCTCCTGTCCATCGCCAGCAAACGTCACATCGCCCTGGGAGGTGTCGATGTTTTCTTTACACCACTCCATGCCGTTGCTGGTGACCACGAAAACGGGGGCTTCGTGCCGTGCCCGGAACCAGTCCATGGCCTGCCGGAGGTAGGCGCTGTCGCCCACCACACCCTTCCAGCGCTGAGGCATAACCTGCAGATAGTCCCCACGGCGCACGTGGACGCCGACAAAGGTGCGCGGGCGGTCCCCTGTGCGGCCCAGGCGGAGCTGACCCAGCACACTCTGCGCCTCTTCCCGAAGGTGGTCGTGCAGGGTGAACTCTCTGCGGATCTGTTCCCGGAGATGGTGGAAGAAAGTCCAAGAGCAGGGGAAGCCAGAGAGCTTCAGGAAAGGATCTCTCAAGTCCGCGTACTCCTCCGACATCCAGTCGTGAAGCTGCAGCTCCCGCCACGGCGTGCGGCTGTCCACTTCTGGGGCCAGCACGGGCAGGGTGATGCGGAATACCGGGGCCAGGGCGGCATGCATGGCAGGCAGGATAAAGGCCCGGCGGCCGTTGAGCTGGGCCAGAGCCAGCAGCGTGGCATACTGTCCCATCTGATTACCAAACCGGCCATTGGGGTAGACAGTCCAGGTGCCGGAGAGGGAAGCAGGGTGCTGGGGACAGGAAGAGGAGGCGTTGGGGCCCATCGCAGTACCCGGCAGGCAGAAGATGGCCACTGGGGGTGTCACCAGGCGGCGGTCTGGACACAGGATCGACAGGCCTAGGCCATGTGGAAAGCTGTCTTGATGGATATGGAGGAAGAAGATTACAGAGAGGACACAGACTAGCAGGAAGGCCAGGCAGAGCTGACGATGGCTCCGGAGCCACATGGCTGCAGGGGAGGAAAGGCGAATTAGCAAATGCTCTGAGGCTGAGGAGGGGAGGCTGAGGAGGGATGTGGGGTAAGGGAGGCGCCTGGGGTGCAGCACTCCTTAGTCCCAGGGAAAGAGGAAGTTAAAGGTTTAGACTCCTGGGGCTGAGGTAGGGAGAGCCTGAGTCCTAGGTTTCAGGGATGAGAGCCTTGGAATTTCGGGGCATGGGGACTGGAAGACAAGTGGTTTTCAAGATAGCCATGGTTTGGCTGGGCACTGTGGCTCACACCTGTAATCCCAGCATATTGGGAGGCTGAGATGGGAGGATCCCTTGAGCCCAGGAGTTCAAGATCAGCCTGGGCAACAGAGCACTCTTACAAAAAAATTTTAAAATTAGCTTGGCATGGGCCAGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACGTGGAGAAACCCTGTCTCTACTTAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCGCCTGAACCCGGGGGGCGGGAGTTGCGGTGAGCTGAGATCATGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCCAAAAAAAAATAAATAAAATTAGCTTGGCATGGTGGCACATGTCTGTGGTCTCAGCTACACCGGATGCTAAGGCGGGAGGATCCCCGGAGCTCACAATGAGCCGCGATAGCACCGCTGACTGCACTCCAGCTTGCGCGACAGAGAGGGACCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTGGTCCAGGTTCCTACACCTTTCCTGAAGGAATCTCGAGTCTCCCCTCCTGTAAGTTCCGCTGATACTGGACTCTTCCACCAGCCTGTTTCTCAGGAGTACCTGTCTGTGAGGCGCAAAATCCACCACAGAGGTGGTGATGGGAAACGATAGTTCAAGTAAAACAAGAGAGGCTGGAGGGTCAGGAGCGGAAGGAGCATCTTGGTTCCTGGAGGAGTAATGGCTGGGGAGGTGGCGGAGATTCCTAGGGCCTTAGGAAGACCTGGAGAAGAGGTTGGGGGTGCACCTCCTGGTTCTGAAGGAGTTGTTCCTGGGTCCCAGGAACAACTGAGTGGGGCAGTCCCCACTTACCCGAGCTGCTTGCAGGTGGCAGATCCACAGTCCGCTTTTCGTGGCCGGAGCGCACCCTCCGCAAAGGCAGGCCACATCCGGCCGCCCCTGGAACGCCAGGCGTCCGGCTATCCGGCCCGGCAGCCCTCCCCTCCGCGCAGCCTGTCCGGACTGGCAGCGAGGGCTTGGGGAGGAGAGGAAGGAGAGGGCGCGGCCGGGAGTCTCGCAGCGTCCGCCCTCCCGGGCCGGGCGGATGGCTGGAAGGTGGAGCCCCGCCCGTCACTTGGCGCCGAGCCCCAGCGCCAGGGGCTAAGGCGATGGCCCCTGGGCCCACCGCTCCCCAGATCGGGGATGCAGGGGACCGCGCCCT
AGACTGTGAACAGAGCAAGACGCTGGCCAACTAGAGATGGTTTGTTTTCCATCTCAATTTTTCCAGCAATGGTGGAACATTCATTAGATGCTACAATTAGGTTGCACATTCATTAGATTCTTCACTTGGCCCGGTGTGCTGGCTCACATCTATAAACCCAGCATTCTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCCCAGGAGTTGAAGAACAGCCTGGGCAATATCACAAGACCTCGTCTCTACAAAAATTAAAAAAAATTATCCGGGCCAGGCATGGTGGCTCACGCCGGTAATCCCAGCACTGTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCTGGCCTGGGCTACAGAGCAAGACTCCGTCTCAATAAATAAATAAATAAATAAATAATTAAAAAAAAAATATCCGGGCTGGGCACAGTGGCTCATGCCAGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATGACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATAATGGCCTGTGCCTGTAGTCCCATCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACACAGGAGGCGGAAGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCCAAAAAAAAAAAAAAAAAACTAAAAAGATTCTTCACCTTAGTTATCTGGATTTCCAGAACCCCATCCTGTCCATAAGGGCCCTGCAGGGTTCTTCACAGGCATCAAACCTGGTCCTCTCTAGAACAAGTCTCCCTCTAGAATCACTCCAGAAACACAGAAGGGGACTTGGTGAATGCTTGCTCTGGAGCAATCATATGCTCCTTCAGTCTTTGGAGGACCCAGGGGAGAAGTAACCCCTCTTCTAGAGTAGACCAGAGGGAGAGTTCCCCATTCCTGGGGGCAGCCATCTGGAAGTACTGTAGATATGGGCTGGGAAGAGCAGGTGGGCACTGTGGCTTCTAGAACTGCCTGCCAGCCATCAGGAAAAGATGTTTTGCTAGTTCTAGAATATTCAGACAGTTCCAGAAACGTCCCCCTTCTCTCCAACTCTCCCAACTAGAATCACTCTGGATACGGGCACCCATTTGCTTCAGGAACACCACAAGCTTCTCCAGAAGATGCCAGGCCTCTGAAGCCACGTACTGCTGGCTCTAGAAAGATCAGGCTACTTCAGAAAGTCTCCCTGGCTCTCAAGGCTTAGCCAATGTCCAGAGTGGAGACAAGTCTGCATTAATGCCCACCCACTCGGGCAGGAAGGCCGCCTCCGGCTTAAAGATCTTCAGGAACTCAGAGTCTGGCAGGGTGAAGTTGGCCAGGTAGACAGTGTCTCCGCCAGCCAGGTAGGCAGCCCAGAAGCCGAAGGTGCCAATGGTCATAATGGTGTGGTTGCACTGTGTGAGCAGGGCAAAGTCTTTCCACGGTGTAGCCTCCTGTCCATCGCCAGCAAACGTCACATCGCCCTGGGAGGTGTCGATGTTTTCTTTACACCACTCCATGCCGTTGCTGGTGACCACGAAAACGGGGGCTTCGTGCCGTGCCCGGAACCAGTCCATGGCCTGCCGGAGGTAGGCGCTGTCGCCCACCACACCCTTCCAGCGCTGAGGCATAACCTGCAGATAGTCCCCACGGCGCACGTGGACGCCGACAAAGGTGCGCGGGCGGTCCCCTGTGCGGCCCAGGCGGAGCTGACCCAGCACACTCTGCGCCTCTTCCCGAAGGTGGTCGTGCAGGGTGAACTCTCTGCGGATCTGTTCCCGGAGATGGTGGAAGAAAGTCCAAGAGCAGGGGAAGCCAGAGTGCTTCAGGAAAGGATCTCTCAAGTCCGCGTACTCCTCCGACATCCAGTCGTGAAGCTGCAGCTCCCGCCACGGCGTGCGGCTGTCCACTTCTGGGGCCAGCACGGGCAGGGTGATGCGGAATACCGGGGCCAGGGCGGCATGCATGGCAGGCAGGATAAAGGCCCGGCGGCCGTTGAGCTGGGCCAGAGCCAGCAGCGTGGCATACTGTCCCATCTGATTACCAAACCGGCCATTGGGGTAGACAGTCCAGGTGCCGGAGAGGGAAGCAGGGTGCTGGGGACAGGAAGAGGAGGCGTTGGGGCCCATCGCAGTACCCGGCAGGCAGAAGATGGCCACTGGGGGTGTCACCAGGCGGCGGTCTGGACACAGGATCGACAGGCCTAGGCCATGTGGAAAGCTGTCTTGATGGATATGGAGGAAGAAGATTACAGAGAGGACACAGACTAGCAGGAAGGCCAGGCAGAGCTGACGATGGCTCCGGAGCCACATGGCTGCAGGGGAGGAAAGGCGAATTAGCAAATGCTCTGAGGCTGAGGAGGGGAGGCTGAGGAGGGATGTGGGGTAAGGGAGGCGCCTGGGGTGCAGCACTCCTTAGTCCCAGGGAAAGAGGAAGTTAAAGGTTTAGACTCCTGGGGCTGAGGTAGGGAGAGCCTGAGTCCTAGGTTTCAGGGATGAGAGCCTTGGAATTTCGGGGCATGGGGACTGGAAGACAAGTGGTTTTCAAGATAGCCATGGTTTGGCTGGGCACTGTGGCTCACACCTGTAATCCCAGCATATTGGGAGGCTGAGATGGGAGGATCCCTTGAGCCCAGGAGTTCAAGATCAGCCTGGGCAACAGAGCACTCTTACAAAAAAATTTTAAAATTAGCTTGGCATGGGCCAGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACGTGGAGAAACCCTGTCTCTACTTAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCGCCTGAACCCGGGGGGCGGGAGTTGCGGTGAGCTGAGATCATGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCCAAAAAAAAATAAATAAAATTAGCTTGGCATGGTGGCACATGTCTGTGGTCTCAGCTACACCGGATGCTAAGGCGGGAGGATCCCCGGAGCTCACAATGAGCCGCGATAGCACCGCTGACTGCACTCCAGCTTGCGCGACAGAGAGGGACCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTGGTCCAGGTTCCTACACCTTTCCTGAAGGAATCTCGAGTCTCCCCTCCTGTAAGTTCCGCTGATACTGGACTCTTCCACCAGCCTGTTTCTCAGGAGTACCTGTCTGTGAGGCGCAAAATCCACCACAGAGGTGGTGATGGGAAACGATAGTTCAAGTAAAACAAGAGAGGCTGGAGGGTCAGGAGCGGAAGGAGCATCTTGGTTCCTGGAGGAGTAATGGCTGGGGAGGTGGCGGAGATTCCTAGGGCCTTAGGAAGACCTGGAGAAGAGGTTGGGGGTGCACCTCCTGGTTCTGAAGGAGTTGTTCCTGGGTCCCAGGAACAACTGAGTGGGGCAGTCCCCACTTACCCGAGCTGCTTGCAGGTGGCAGATCCACAGTCCGCTTTTCGTGGCCGGAGCGCACCCTCCGCAAAGGCAGGCCACATCCGGCCGCCCCTGGAACGCCAGGCGTCCGGCTATCCGGCCCGGCAGCCCTCCCCTCCGCGCAGCCTGTCCGGACTGGCAGCGAGGGCTTGGGGAGGAGAGGAAGGAGAGGGCGCGGCCGGGAGTCTCGCAGCGTCCGCCCTCCCGGGCCGGGCGGATGGCTGGAAGGTGGAGCCCCGCCCGTCACTTGGCGCCGAGCCCCAGCGCCAGGGGCTAAGGCGATGGCCCCTGGGCCCACCGCTCCCCAGATCGGGGATGCAGGGGACCGCGCCCT
Task1_train_27448
The variant affects gene FUT1 (fucosyltransferase 1 (H blood group)), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Para-Bombay phenotype
CTCACATCTATAAACCCAGCATTCTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCCCAGGAGTTGAAGAACAGCCTGGGCAATATCACAAGACCTCGTCTCTACAAAAATTAAAAAAAATTATCCGGGCCAGGCATGGTGGCTCACGCCGGTAATCCCAGCACTGTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCTGGCCTGGGCTACAGAGCAAGACTCCGTCTCAATAAATAAATAAATAAATAAATAATTAAAAAAAAAATATCCGGGCTGGGCACAGTGGCTCATGCCAGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATGACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATAATGGCCTGTGCCTGTAGTCCCATCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACACAGGAGGCGGAAGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCCAAAAAAAAAAAAAAAAAACTAAAAAGATTCTTCACCTTAGTTATCTGGATTTCCAGAACCCCATCCTGTCCATAAGGGCCCTGCAGGGTTCTTCACAGGCATCAAACCTGGTCCTCTCTAGAACAAGTCTCCCTCTAGAATCACTCCAGAAACACAGAAGGGGACTTGGTGAATGCTTGCTCTGGAGCAATCATATGCTCCTTCAGTCTTTGGAGGACCCAGGGGAGAAGTAACCCCTCTTCTAGAGTAGACCAGAGGGAGAGTTCCCCATTCCTGGGGGCAGCCATCTGGAAGTACTGTAGATATGGGCTGGGAAGAGCAGGTGGGCACTGTGGCTTCTAGAACTGCCTGCCAGCCATCAGGAAAAGATGTTTTGCTAGTTCTAGAATATTCAGACAGTTCCAGAAACGTCCCCCTTCTCTCCAACTCTCCCAACTAGAATCACTCTGGATACGGGCACCCATTTGCTTCAGGAACACCACAAGCTTCTCCAGAAGATGCCAGGCCTCTGAAGCCACGTACTGCTGGCTCTAGAAAGATCAGGCTACTTCAGAAAGTCTCCCTGGCTCTCAAGGCTTAGCCAATGTCCAGAGTGGAGACAAGTCTGCATTAATGCCCACCCACTCGGGCAGGAAGGCCGCCTCCGGCTTAAAGATCTTCAGGAACTCAGAGTCTGGCAGGGTGAAGTTGGCCAGGTAGACAGTGTCTCCGCCAGCCAGGTAGGCAGCCCAGAAGCCGAAGGTGCCAATGGTCATAATGGTGTGGTTGCACTGTGTGAGCAGGGCAAAGTCTTTCCACGGTGTAGCCTCCTGTCCATCGCCAGCAAACGTCACATCGCCCTGGGAGGTGTCGATGTTTTCTTTACACCACTCCATGCCGTTGCTGGTGACCACGAAAACGGGGGCTTCGTGCCGTGCCCGGAACCAGTCCATGGCCTGCCGGAGGTAGGCGCTGTCGCCCACCACACCCTTCCAGCGCTGAGGCATAACCTGCAGATAGTCCCCACGGCGCACGTGGACGCCGACAAAGGTGCGCGGGCGGTCCCCTGTGCGGCCCAGGCGGAGCTGACCCAGCACACTCTGCGCCTCTTCCCGAAGGTGGTCGTGCAGGGTGAACTCTCTGCGGATCTGTTCCCGGAGATGGTGGAAGAAAGTCCAAGAGCAGGGGAAGCCAGAGAGCTTCAGGAAAGGATCTCTCAAGTCCGCGTACTCCTCCGACATCCAGTCGTGAAGCTGCAGCTCCCGCCACGGCGTGCGGCTGTCCACTTCTGGGGCCAGCACGGGCAGGGTGATGCGGAATACCGGGGCCAGGGCGGCATGCATGGCAGGCAGGATAAAGGCCCGGCGGCCGTTGAGCTGGGCCAGAGCCAGCAGCGTGGCATACTGTCCCATCTGATTACCAAACCGGCCATTGGGGTAGACAGTCCAGGTGCCGGAGAGGGAAGCAGGGTGCTGGGGACAGGAAGAGGAGGCGTTGGGGCCCATCGCAGTACCCGGCAGGCAGAAGATGGCCACTGGGGGTGTCACCAGGCGGCGGTCTGGACACAGGATCGACAGGCCTAGGCCATGTGGAAAGCTGTCTTGATGGATATGGAGGAAGAAGATTACAGAGAGGACACAGACTAGCAGGAAGGCCAGGCAGAGCTGACGATGGCTCCGGAGCCACATGGCTGCAGGGGAGGAAAGGCGAATTAGCAAATGCTCTGAGGCTGAGGAGGGGAGGCTGAGGAGGGATGTGGGGTAAGGGAGGCGCCTGGGGTGCAGCACTCCTTAGTCCCAGGGAAAGAGGAAGTTAAAGGTTTAGACTCCTGGGGCTGAGGTAGGGAGAGCCTGAGTCCTAGGTTTCAGGGATGAGAGCCTTGGAATTTCGGGGCATGGGGACTGGAAGACAAGTGGTTTTCAAGATAGCCATGGTTTGGCTGGGCACTGTGGCTCACACCTGTAATCCCAGCATATTGGGAGGCTGAGATGGGAGGATCCCTTGAGCCCAGGAGTTCAAGATCAGCCTGGGCAACAGAGCACTCTTACAAAAAAATTTTAAAATTAGCTTGGCATGGGCCAGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACGTGGAGAAACCCTGTCTCTACTTAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCGCCTGAACCCGGGGGGCGGGAGTTGCGGTGAGCTGAGATCATGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCCAAAAAAAAATAAATAAAATTAGCTTGGCATGGTGGCACATGTCTGTGGTCTCAGCTACACCGGATGCTAAGGCGGGAGGATCCCCGGAGCTCACAATGAGCCGCGATAGCACCGCTGACTGCACTCCAGCTTGCGCGACAGAGAGGGACCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTGGTCCAGGTTCCTACACCTTTCCTGAAGGAATCTCGAGTCTCCCCTCCTGTAAGTTCCGCTGATACTGGACTCTTCCACCAGCCTGTTTCTCAGGAGTACCTGTCTGTGAGGCGCAAAATCCACCACAGAGGTGGTGATGGGAAACGATAGTTCAAGTAAAACAAGAGAGGCTGGAGGGTCAGGAGCGGAAGGAGCATCTTGGTTCCTGGAGGAGTAATGGCTGGGGAGGTGGCGGAGATTCCTAGGGCCTTAGGAAGACCTGGAGAAGAGGTTGGGGGTGCACCTCCTGGTTCTGAAGGAGTTGTTCCTGGGTCCCAGGAACAACTGAGTGGGGCAGTCCCCACTTACCCGAGCTGCTTGCAGGTGGCAGATCCACAGTCCGCTTTTCGTGGCCGGAGCGCACCCTCCGCAAAGGCAGGCCACATCCGGCCGCCCCTGGAACGCCAGGCGTCCGGCTATCCGGCCCGGCAGCCCTCCCCTCCGCGCAGCCTGTCCGGACTGGCAGCGAGGGCTTGGGGAGGAGAGGAAGGAGAGGGCGCGGCCGGGAGTCTCGCAGCGTCCGCCCTCCCGGGCCGGGCGGATGGCTGGAAGGTGGAGCCCCGCCCGTCACTTGGCGCCGAGCCCCAGCGCCAGGGGCTAAGGCGATGGCCCCTGGGCCCACCGCTCCCCAGATCGGGGATGCAGGGGACCGCGCCCTGCCCCTCCGCCCCGTCATTGACCTGCGCGAAGGCTTCACCCAGGGCAGGCTACCTGGCTTCTGAGCAGCCGCAGCATCATTGCGTGGACCAGGAGACGGAGCGCCCAGTTGCAATGCTGGAGCCGGGAGGTCCAATCCGCCG
CTCACATCTATAAACCCAGCATTCTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCCCAGGAGTTGAAGAACAGCCTGGGCAATATCACAAGACCTCGTCTCTACAAAAATTAAAAAAAATTATCCGGGCCAGGCATGGTGGCTCACGCCGGTAATCCCAGCACTGTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCTGGCCTGGGCTACAGAGCAAGACTCCGTCTCAATAAATAAATAAATAAATAAATAATTAAAAAAAAAATATCCGGGCTGGGCACAGTGGCTCATGCCAGTAATCCCAGCACTTTGGGAGGCCAAGACAGGTGGATGACAAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATAATGGCCTGTGCCTGTAGTCCCATCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACACAGGAGGCGGAAGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCCAAAAAAAAAAAAAAAAAACTAAAAAGATTCTTCACCTTAGTTATCTGGATTTCCAGAACCCCATCCTGTCCATAAGGGCCCTGCAGGGTTCTTCACAGGCATCAAACCTGGTCCTCTCTAGAACAAGTCTCCCTCTAGAATCACTCCAGAAACACAGAAGGGGACTTGGTGAATGCTTGCTCTGGAGCAATCATATGCTCCTTCAGTCTTTGGAGGACCCAGGGGAGAAGTAACCCCTCTTCTAGAGTAGACCAGAGGGAGAGTTCCCCATTCCTGGGGGCAGCCATCTGGAAGTACTGTAGATATGGGCTGGGAAGAGCAGGTGGGCACTGTGGCTTCTAGAACTGCCTGCCAGCCATCAGGAAAAGATGTTTTGCTAGTTCTAGAATATTCAGACAGTTCCAGAAACGTCCCCCTTCTCTCCAACTCTCCCAACTAGAATCACTCTGGATACGGGCACCCATTTGCTTCAGGAACACCACAAGCTTCTCCAGAAGATGCCAGGCCTCTGAAGCCACGTACTGCTGGCTCTAGAAAGATCAGGCTACTTCAGAAAGTCTCCCTGGCTCTCAAGGCTTAGCCAATGTCCAGAGTGGAGACAAGTCTGCATTAATGCCCACCCACTCGGGCAGGAAGGCCGCCTCCGGCTTAAAGATCTTCAGGAACTCAGAGTCTGGCAGGGTGAAGTTGGCCAGGTAGACAGTGTCTCCGCCAGCCAGGTAGGCAGCCCAGAAGCCGAAGGTGCCAATGGTCATAATGGTGTGGTTGCACTGTGTGAGCAGGGCAAAGTCTTTCCACGGTGTAGCCTCCTGTCCATCGCCAGCAAACGTCACATCGCCCTGGGAGGTGTCGATGTTTTCTTTACACCACTCCATGCCGTTGCTGGTGACCACGAAAACGGGGGCTTCGTGCCGTGCCCGGAACCAGTCCATGGCCTGCCGGAGGTAGGCGCTGTCGCCCACCACACCCTTCCAGCGCTGAGGCATAACCTGCAGATAGTCCCCACGGCGCACGTGGACGCCGACAAAGGTGCGCGGGCGGTCCCCTGTGCGGCCCAGGCGGAGCTGACCCAGCACACTCTGCGCCTCTTCCCGAAGGTGGTCGTGCAGGGTGAACTCTCTGCGGATCTGTTCCCGGAGATGGTGGAAGAAAGTCCAAGAGCAGGGGAAGCCAGAGAGCTTCAGGAAAGGATCTCTCAAGTCCGCGTACTCCTCCGACATCCAGTCGTGAAGCTGCAGCTCCCGCCACGGCGTGCGGCTGTCCACTTCTGGGGCCAGCACGGGCAGGGTGATGCGGAATACCGGGGCCAGGGCGGCATACATGGCAGGCAGGATAAAGGCCCGGCGGCCGTTGAGCTGGGCCAGAGCCAGCAGCGTGGCATACTGTCCCATCTGATTACCAAACCGGCCATTGGGGTAGACAGTCCAGGTGCCGGAGAGGGAAGCAGGGTGCTGGGGACAGGAAGAGGAGGCGTTGGGGCCCATCGCAGTACCCGGCAGGCAGAAGATGGCCACTGGGGGTGTCACCAGGCGGCGGTCTGGACACAGGATCGACAGGCCTAGGCCATGTGGAAAGCTGTCTTGATGGATATGGAGGAAGAAGATTACAGAGAGGACACAGACTAGCAGGAAGGCCAGGCAGAGCTGACGATGGCTCCGGAGCCACATGGCTGCAGGGGAGGAAAGGCGAATTAGCAAATGCTCTGAGGCTGAGGAGGGGAGGCTGAGGAGGGATGTGGGGTAAGGGAGGCGCCTGGGGTGCAGCACTCCTTAGTCCCAGGGAAAGAGGAAGTTAAAGGTTTAGACTCCTGGGGCTGAGGTAGGGAGAGCCTGAGTCCTAGGTTTCAGGGATGAGAGCCTTGGAATTTCGGGGCATGGGGACTGGAAGACAAGTGGTTTTCAAGATAGCCATGGTTTGGCTGGGCACTGTGGCTCACACCTGTAATCCCAGCATATTGGGAGGCTGAGATGGGAGGATCCCTTGAGCCCAGGAGTTCAAGATCAGCCTGGGCAACAGAGCACTCTTACAAAAAAATTTTAAAATTAGCTTGGCATGGGCCAGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACGTGGAGAAACCCTGTCTCTACTTAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAATCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCGCCTGAACCCGGGGGGCGGGAGTTGCGGTGAGCTGAGATCATGCCATTACACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCCAAAAAAAAATAAATAAAATTAGCTTGGCATGGTGGCACATGTCTGTGGTCTCAGCTACACCGGATGCTAAGGCGGGAGGATCCCCGGAGCTCACAATGAGCCGCGATAGCACCGCTGACTGCACTCCAGCTTGCGCGACAGAGAGGGACCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTGGTCCAGGTTCCTACACCTTTCCTGAAGGAATCTCGAGTCTCCCCTCCTGTAAGTTCCGCTGATACTGGACTCTTCCACCAGCCTGTTTCTCAGGAGTACCTGTCTGTGAGGCGCAAAATCCACCACAGAGGTGGTGATGGGAAACGATAGTTCAAGTAAAACAAGAGAGGCTGGAGGGTCAGGAGCGGAAGGAGCATCTTGGTTCCTGGAGGAGTAATGGCTGGGGAGGTGGCGGAGATTCCTAGGGCCTTAGGAAGACCTGGAGAAGAGGTTGGGGGTGCACCTCCTGGTTCTGAAGGAGTTGTTCCTGGGTCCCAGGAACAACTGAGTGGGGCAGTCCCCACTTACCCGAGCTGCTTGCAGGTGGCAGATCCACAGTCCGCTTTTCGTGGCCGGAGCGCACCCTCCGCAAAGGCAGGCCACATCCGGCCGCCCCTGGAACGCCAGGCGTCCGGCTATCCGGCCCGGCAGCCCTCCCCTCCGCGCAGCCTGTCCGGACTGGCAGCGAGGGCTTGGGGAGGAGAGGAAGGAGAGGGCGCGGCCGGGAGTCTCGCAGCGTCCGCCCTCCCGGGCCGGGCGGATGGCTGGAAGGTGGAGCCCCGCCCGTCACTTGGCGCCGAGCCCCAGCGCCAGGGGCTAAGGCGATGGCCCCTGGGCCCACCGCTCCCCAGATCGGGGATGCAGGGGACCGCGCCCTGCCCCTCCGCCCCGTCATTGACCTGCGCGAAGGCTTCACCCAGGGCAGGCTACCTGGCTTCTGAGCAGCCGCAGCATCATTGCGTGGACCAGGAGACGGAGCGCCCAGTTGCAATGCTGGAGCCGGGAGGTCCAATCCGCCG
Task1_train_27449
This sequence variant lies in BCAT2 (branched chain amino acid transaminase 2) on Chromosome 19. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Hypervalinemia and hyperleucine-isoleucinemia
ACGACAAGGAGTAATGGGCGGACCTGAACCCGCGACGAGGGGCTGGGGGCCAAGATGCCTGGGTCGGCCCTTACGGCTTTGGGAGTGTCGCAACCACATGGGGGCGCCAGAGACCCAGACGCCGCCCGCTGGCCTTTTATTTCGTATTGCACTTCAGGTGAGTCATTGGTAGGGAGGCGAGTGCTGGCGTGACGAGATGCTACGGGTCGGTGGATCTGGAGCACAGCCTGCAGCTTCACACCGGGAACATCCACTCGTGGGCTCTGATTCCGTACTGCGGAACAACGGAGGCAGTGCGTGAGGTGGAAGCTGCACTACAACTCCCAGTAGGCCCTGGGGTGTTCCAGGCCGAGTGCCTACGGAGCTGTGCCCCAGCGGCTCACGGGAAATGTAGTCCACTTCCCAGAGGGCCCCAACAATGATGGGAACGGGGAATCAAGGCTAAGGCGGCGCAGAGGCTTCCGGGAGATGTAGTTCTGAAGACAGGAATTATGGCCAGGCCTCTAAGGCTCTTGGAAAAAGTCACTTTCAGCTCAGAAAGCCCAGATAGTCAGAGGATGTGTAGTTCTAGGTCCTGATGCACAAAAGTTTACAGAAATGTAGCTCTAGGTCTGGGAAAGGAGCCCAGAGATTCTTGGGAAAGAGATCTTGGCCCAGAAGATGGGAATACCCCCAGAGATTTATGGGATTAAACAGTCTGGTGCCAGAGAGGGGCCAAGGTCCAGAGGCTCATGGGAGGAAGCTTTCTCCGGCCAAAGGGATAGCCCAGGGCTCCAGGGAATCTTGGGAGGCCAACCTCTGAGATGGCCAGAGGGCTGGCTAAGGTCTCAGTGATTCATGGAAAGGGCCTTTCTCCCACCAGGGCACCCGGGGCAGCAGAGGATCACAGGGAGGGAGTTTCTCCCACCAGGGCACCCAGGGGCCTCAGAGGCCCACGGAGAGGGGGTTTCTCCTACCAGGGCACCCAGGAGCCGCAGAGGATCACAGGAAGGGGTTTCCAAAGCTGAAGACATATCCAGGGCTCCGGGAGCTCCCAGGAAAGGGTGATTTAGCCCCAAGGGGTTTTCCAGGCCACAGAGCAGCACAGAAAGCCCACTCTCCAGGGCCTCAATAAGAAAGGCCATTATCTGTTCCTGGTACTACTGAAGGAGGCTGGCTGTTAGTCCAGGGGCTCATGGGACACCAACTTCTCCAGGGAACAAGCTCCCAGCCCATTCCCCAGCTCCCTGCAGCTCACCTGGATCTCCTTCAGCTCCTTCTGGAAGCGGAGGATCAGCTCAGGCCCATTTTCCATGGTGGGAATGTGGAGGTTCTGGGACAGAAGGTGCGGTGAGGACCAAGCCCCTCCCCTCCTTCCCTCCCACCCACAATGGCAGCCCCGCCTCACCCTGTCTTTGTACAGGATTCGGTGCACTGGGCAGACCTGGCAAGCGGTGCCCGAGCCAAAGACTTCCCGCACGCGGCCCTCCTCCAGGGCCCGCAGCAACTGCTTCATGGTGATCGTGCGCTCCACCACCCGGAACTCACCCTGCAGGGCAGTTGGCAGAGACACGTGTCCCCAGAGGGTTGCCCTGCTGCAGACCTCCACCTCTCCCTCCCTGAGGATAGTGAGAAAGACAGAGGCCCAACGGGAGAGACAGACCCAGGAGAAGGGGCAGAGACATGCCAGTGTGCCCCAGTCCCAGCCCTCTGATGCCCTGGCCCCTGGCACATGGCGCCCATCACCAGAAGATGCCATGTCCTCACCCAGGTCTGAGCCATGTCCAGTAGACTCTGTCTGACCACTCCAGGCAGGATAACACCATTCAGCGGGGGCGTCACCAGCTCCAGCACTAGGGCAGGTGTAAGGGGTGGAAGATGTTACCTCTCACCCCCTAGCACCGCCGTCTTAAGAGCCACCCCCTTCCCCCATCCCAGAATCCCTGGGGCCTGTAACCTGCCAGGAATGATGGTGCCACCCACTTCCACCAGGGTTCGGGCTGGGTCATGGGTGGGCTTACCCCCATCTTCGTGGGTCCAGTAGACAAAGATGTTCATGGTTCCCACCTCGGTGAGCTGGTGGTCGGGCCCATACAGCCAGAGGACCTGTTCACAGCCCCGCTTGAGTGCCTCCTGTTGCACTAACACGGTGGGCCCATAATTCCTGGTGGAGGGCAGTCTGGTTGGGTGGGGCAAGGGAGCCCCATCCTTCCCCAGCCCAGCCCCAGAGGAGGCTCATCCTACTCTCTCCCGTCTCCCTGCTCACAGCTCTCACAGGGCTCCCCAGTTCCCCTGAGATGGAATCCTTGACTTTTCATTTGGCATCAGGACCCTAAATGGTTATGTCCCCTCTCTCCTGTCTCTTCCCACTTTTCTTTCTTTTCTTTTCTTTTTTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCTCTTGACCTGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTCACCCATTTCATACTGACCAAATCCTCAGCTGTCATTCAAAACCATTTCTTTTTTTCTTTTTTTCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGAGGCTAGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCTCGGGTCCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAACTGGAGTAACTGGGGCATGCAGCACCATGTCCGGCTAATTTATATTCACATTTATATTTATATGCCCGCCTCAGCCCCCCAAAGTGCTGGGATTACAAGAGTGAGCCACAGCGCCCGGCCTTACTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCTACCGCGCCTGGCTCCAAAACCGTTTCTGTTGTCACCTCCTCGAGAGGTGTTTCCAGACCTCCAGGCTGGGTGCTGGACCTTCCCTGGACTCCCCCAGTGAACTGGGCTACCTGGATGACTTTCTGAGTCTCTCTCCCAGAGATAGCCTCTCCCCTCAGCTGCTAACAAGCCTCCCATGGCTCCCCAGTGCCCCAGGACAAGACCCTAGCCTCCTTCCGGCATTCCAGGCCTGCCTGGGTCTAATGAATACTTGCTAAGCATTTTTCAAAACCCAAACTTATTTTTGTAACCTGAACATCTTCTGTGATCCTATTCCTTCTGTCCCTGTACACATGGTTCCCAGGACTGGAAACAGTTTGCTGACTTTTGTACCCAGGAAACCCCCTCCTCCCTCCTCGTCAGACCTAGTTGAAGGGTCGCCTCCTCTGCGAAACCTTTCTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGTCTCCTGGGTTCTCGCCATTGTCCTGCCTCAGCCTCCTGAGTAGCTGCGACTACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAATCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCCTCTGGCCTCTGTGAAGGCTTTCACAATGCCCTGGGTCACCTCACCAGAGAACATGCAGCTCCGAATACTGGGGCTCCCACCAGCCTGGGAGACCCAGGAGAGCAGGGCTCGGGGCTGACTCATCTGTGTCCCCAGCTTCTGCCAGCACAGGGCCTGGCCCTCAGGAGACCTCACAGGATGTGGCTGAAAGGACCTGAATGCACCCCCAGCTGGGGCCACATTCCTGTCCCAACACGCCAGTGCCCACCCTCTGCCTTGGTTGCCCAGGAGACCCAGCTGTCTCCTTCCTGCCCTGCTGAGCTGAGGCCACTGGGAGACAGATTTACACAGAAAGTCCACACGGGGGTGAGGGGCTTTG
ACGACAAGGAGTAATGGGCGGACCTGAACCCGCGACGAGGGGCTGGGGGCCAAGATGCCTGGGTCGGCCCTTACGGCTTTGGGAGTGTCGCAACCACATGGGGGCGCCAGAGACCCAGACGCCGCCCGCTGGCCTTTTATTTCGTATTGCACTTCAGGTGAGTCATTGGTAGGGAGGCGAGTGCTGGCGTGACGAGATGCTACGGGTCGGTGGATCTGGAGCACAGCCTGCAGCTTCACACCGGGAACATCCACTCGTGGGCTCTGATTCCGTACTGCGGAACAACGGAGGCAGTGCGTGAGGTGGAAGCTGCACTACAACTCCCAGTAGGCCCTGGGGTGTTCCAGGCCGAGTGCCTACGGAGCTGTGCCCCAGCGGCTCACGGGAAATGTAGTCCACTTCCCAGAGGGCCCCAACAATGATGGGAACGGGGAATCAAGGCTAAGGCGGCGCAGAGGCTTCCGGGAGATGTAGTTCTGAAGACAGGAATTATGGCCAGGCCTCTAAGGCTCTTGGAAAAAGTCACTTTCAGCTCAGAAAGCCCAGATAGTCAGAGGATGTGTAGTTCTAGGTCCTGATGCACAAAAGTTTACAGAAATGTAGCTCTAGGTCTGGGAAAGGAGCCCAGAGATTCTTGGGAAAGAGATCTTGGCCCAGAAGATGGGAATACCCCCAGAGATTTATGGGATTAAACAGTCTGGTGCCAGAGAGGGGCCAAGGTCCAGAGGCTCATGGGAGGAAGCTTTCTCCGGCCAAAGGGATAGCCCAGGGCTCCAGGGAATCTTGGGAGGCCAACCTCTGAGATGGCCAGAGGGCTGGCTAAGGTCTCAGTGATTCATGGAAAGGGCCTTTCTCCCACCAGGGCACCCGGGGCAGCAGAGGATCACAGGGAGGGAGTTTCTCCCACCAGGGCACCCAGGGGCCTCAGAGGCCCACGGAGAGGGGGTTTCTCCTACCAGGGCACCCAGGAGCCGCAGAGGATCACAGGAAGGGGTTTCCAAAGCTGAAGACATATCCAGGGCTCCGGGAGCTCCCAGGAAAGGGTGATTTAGCCCCAAGGGGTTTTCCAGGCCACAGAGCAGCACAGAAAGCCCACTCTCCAGGGCCTCAATAAGAAAGGCCATTATCTGTTCCTGGTACTACTGAAGGAGGCTGGCTGTTAGTCCAGGGGCTCATGGGACACCAACTTCTCCAGGGAACAAGCTCCCAGCCCATTCCCCAGCTCCCTGCAGCTCACCTGGATCTCCTTCAGCTCCTTCTGGAAGCGGAGGATCAGCTCAGGCCCATTTTCCATGGTGGGAATGTGGAGGTTCTGGGACAGAAGGTGCGGTGAGGACCAAGCCCCTCCCCTCCTTCCCTCCCACCCACAATGGCAGCCCCGCCTCACCCTGTCTTTGTACAGGATTCGGTGCACTGGGCAGACCTGGCAAGCGGTGCCCGAGCCAAAGACTTCCCGCACGCGGCCCTCCTCCAGGGCCCGCAGCAACTGCTTCATGGTGATCGTGCGCTCCACCACCCGGAACTCACCCTGCAGGGCAGTTGGCAGAGACACGTGTCCCCAGAGGGTTGCCCTGCTGCAGACCTCCACCTCTCCCTCCCTGAGGATAGTGAGAAAGACAGAGGCCCAACGGGAGAGACAGACCCAGGAGAAGGGGCAGAGACATGCCAGTGTGCCCCAGTCCCAGCCCTCTGATGCCCTGGCCCCTGGCACATGGCGCCCATCACCAGAAGATGCCATGTCCTCACCCAGGTCTGAGCCATGTCCAGTAGACTCTGTCTGACCACTCCAGGCAGGATAACACCATTCAGCGGGGGCGTCACCAGCTCCAGCACTAGGGCAGGTGTAAGGGGTGGAAGATGTTACCTCTCACCCCCTAGCACCGCCGTCTTAAGAGCCACCCCCTTCCCCCATCCCAGAATCCCTGGGGCCTGTAACCTGCCAGGAATGATGGTGCCACCCACTTCCACCAGGGTTCGGGCTGGGTCATGGGTGGGCTTACCCCCATCTTCGTGGGTCCAGTAGACAAAGATGTTCATGGTTCCCACCTTGGTGAGCTGGTGGTCGGGCCCATACAGCCAGAGGACCTGTTCACAGCCCCGCTTGAGTGCCTCCTGTTGCACTAACACGGTGGGCCCATAATTCCTGGTGGAGGGCAGTCTGGTTGGGTGGGGCAAGGGAGCCCCATCCTTCCCCAGCCCAGCCCCAGAGGAGGCTCATCCTACTCTCTCCCGTCTCCCTGCTCACAGCTCTCACAGGGCTCCCCAGTTCCCCTGAGATGGAATCCTTGACTTTTCATTTGGCATCAGGACCCTAAATGGTTATGTCCCCTCTCTCCTGTCTCTTCCCACTTTTCTTTCTTTTCTTTTCTTTTTTTTTTAAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCCTCAGCCTCTCTTGACCTGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTCACCCATTTCATACTGACCAAATCCTCAGCTGTCATTCAAAACCATTTCTTTTTTTCTTTTTTTCTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGAGGCTAGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCTCGGGTCCAAGCGATTCTCGTGCCTCAGCCTCCTGAGTAACTGGAGTAACTGGGGCATGCAGCACCATGTCCGGCTAATTTATATTCACATTTATATTTATATGCCCGCCTCAGCCCCCCAAAGTGCTGGGATTACAAGAGTGAGCCACAGCGCCCGGCCTTACTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCTACCGCGCCTGGCTCCAAAACCGTTTCTGTTGTCACCTCCTCGAGAGGTGTTTCCAGACCTCCAGGCTGGGTGCTGGACCTTCCCTGGACTCCCCCAGTGAACTGGGCTACCTGGATGACTTTCTGAGTCTCTCTCCCAGAGATAGCCTCTCCCCTCAGCTGCTAACAAGCCTCCCATGGCTCCCCAGTGCCCCAGGACAAGACCCTAGCCTCCTTCCGGCATTCCAGGCCTGCCTGGGTCTAATGAATACTTGCTAAGCATTTTTCAAAACCCAAACTTATTTTTGTAACCTGAACATCTTCTGTGATCCTATTCCTTCTGTCCCTGTACACATGGTTCCCAGGACTGGAAACAGTTTGCTGACTTTTGTACCCAGGAAACCCCCTCCTCCCTCCTCGTCAGACCTAGTTGAAGGGTCGCCTCCTCTGCGAAACCTTTCTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGTCTCCTGGGTTCTCGCCATTGTCCTGCCTCAGCCTCCTGAGTAGCTGCGACTACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAATCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCCTCTGGCCTCTGTGAAGGCTTTCACAATGCCCTGGGTCACCTCACCAGAGAACATGCAGCTCCGAATACTGGGGCTCCCACCAGCCTGGGAGACCCAGGAGAGCAGGGCTCGGGGCTGACTCATCTGTGTCCCCAGCTTCTGCCAGCACAGGGCCTGGCCCTCAGGAGACCTCACAGGATGTGGCTGAAAGGACCTGAATGCACCCCCAGCTGGGGCCACATTCCTGTCCCAACACGCCAGTGCCCACCCTCTGCCTTGGTTGCCCAGGAGACCCAGCTGTCTCCTTCCTGCCCTGCTGAGCTGAGGCCACTGGGAGACAGATTTACACAGAAAGTCCACACGGGGGTGAGGGGCTTTG
Task1_train_27450
Chromosome 19 houses a mutation in gene BCAT2 (branched chain amino acid transaminase 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Hypervalinemia and hyperleucine-isoleucinemia
AACTGGGGCATGCAGCACCATGTCCGGCTAATTTATATTCACATTTATATTTATATGCCCGCCTCAGCCCCCCAAAGTGCTGGGATTACAAGAGTGAGCCACAGCGCCCGGCCTTACTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCTACCGCGCCTGGCTCCAAAACCGTTTCTGTTGTCACCTCCTCGAGAGGTGTTTCCAGACCTCCAGGCTGGGTGCTGGACCTTCCCTGGACTCCCCCAGTGAACTGGGCTACCTGGATGACTTTCTGAGTCTCTCTCCCAGAGATAGCCTCTCCCCTCAGCTGCTAACAAGCCTCCCATGGCTCCCCAGTGCCCCAGGACAAGACCCTAGCCTCCTTCCGGCATTCCAGGCCTGCCTGGGTCTAATGAATACTTGCTAAGCATTTTTCAAAACCCAAACTTATTTTTGTAACCTGAACATCTTCTGTGATCCTATTCCTTCTGTCCCTGTACACATGGTTCCCAGGACTGGAAACAGTTTGCTGACTTTTGTACCCAGGAAACCCCCTCCTCCCTCCTCGTCAGACCTAGTTGAAGGGTCGCCTCCTCTGCGAAACCTTTCTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGTCTCCTGGGTTCTCGCCATTGTCCTGCCTCAGCCTCCTGAGTAGCTGCGACTACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAATCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCCTCTGGCCTCTGTGAAGGCTTTCACAATGCCCTGGGTCACCTCACCAGAGAACATGCAGCTCCGAATACTGGGGCTCCCACCAGCCTGGGAGACCCAGGAGAGCAGGGCTCGGGGCTGACTCATCTGTGTCCCCAGCTTCTGCCAGCACAGGGCCTGGCCCTCAGGAGACCTCACAGGATGTGGCTGAAAGGACCTGAATGCACCCCCAGCTGGGGCCACATTCCTGTCCCAACACGCCAGTGCCCACCCTCTGCCTTGGTTGCCCAGGAGACCCAGCTGTCTCCTTCCTGCCCTGCTGAGCTGAGGCCACTGGGAGACAGATTTACACAGAAAGTCCACACGGGGGTGAGGGGCTTTGGAGGCTCAAACGACTGTGGGAGCTGGGTATGGGGAGCGCAGCCCAGCCTGGGGGATCAGGGGAGGCTTCTGGGGCGAGAAGCCAATGAGCTGAGTGTAAGCTTCACTCCTGGAGGCTTCCAGGGACCAGTCCTGGTTTCCCCACTGACCTCCACCCAATGCCTTCCCATCTGTGAGCCTTTTTGTCCATCTGAAAAATAATCCCCTCCTCCTTCCTTCCATGGTTTGTTTTCAGGGACCAGGGAGGTCACTTAGCACTGAGCCCTGCACGGTGCTGATGATGTCACCTTCATGTGACATCCAGAGGCATGGCCGAAAGCACGCACGCTGGTCCCTGTGTCTCCAACGCCCAGTGCGCCAGTCGTTCTGGGGATGGGGGTGCTACTTACCCACCTAACTTGTAGTTGCCGACCCCGCCCACCCAGGCCCGGATGAAGGCTGGGTCGGCCAGGAGGGAGACCGGGGTCACGGAGCCTCCAGGGAAGTAGGCACCCACTGGGCAGAGAATGACGAACAGGAGCGCGCGCGTGGGCTGGCTGACACCCAGCGAGGGCTGCGACGGGCAAAGGGACAGCGTCAGGAGTCCAGGCCCCCAGTCCCTTCCCGTCCCCAGGCCCAGGCCTCCAGGACCCCACCCCTGCCCTGCAGAATCCAACCCCCGCAGCCCAGCTTCCCAGCCCTGGAGTTGGGCCCACCTCGTTCCCAATGAGCACAGGCCGCACATAGAGGCTGGTGCCGGCGGCATCGGGGACCCAGTCCTTGTCCACTTCGATGAGCCGGCGGATGCACTCCAGCAACTCCAGCTTGTCGAAACTCTGGGTGGGATTCTGAATGAGTCAAGGGGCCCTTGCTGCCCCGGCCCCAGCCCTCCTCCCCACCCCGGTGGACCGGGACCCCTCACCGGCAGGCACAGGCGCATGGCTGAGCGCAGCATCCGGTCCATGTTGAGCCAGGGGCGGAAGAGGCGCACCTGCTGGTCTTTGCCTTTGAACGCCTTCATGCCCTCAAACAGCTGCGGGGACACGCGGGTGGGGAGGCTCAGAGACTTCTCCAGACAGTCATGAGAGACACCAAGACAGACAGAGACAGATACACAAAGACACAGACAACTGAAAGATGGAGGCCAAGAGGAGAGCACCGGGGAGATTTAGCAGCTGGGTCAGAGAGATGGAGAAAAAGAGAGACAGATATAGACAGGGAGACAAACAGGTAGAGACACACGGAGACTCTAGAAAGCAAAGGACACGACCGGGCTCAGTGGCTCACTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGTGTAGGAGTTCGTGACCAGCCCAGGCATTATAGCAAGACCCCATCTCTACCAAAAAATACGAAAATTAGCCAGACGTGGTAGCACGTGACTGGAGTCCCAGGTATTTGGAAGGTGGTGGGAGGATCACTTGAGCCTGGGAGTTTGAGACTGCAGTGAGCCACGATCATGCCACTGCACTCCAGCCTGGGACCTAGTTTTTTTTTTCTGGAGACTCTGTCCCTGATCACTGCCCCATGGTTCCAAGTTTGCTTGTTCAGCATCTGCTCCACTGCAGAGTGGAAGAGCCTGGAAGGCAGGGATTACCCTTGACACGTTTACCAGACAGCCTCTCCTGCAGTCCCATGCACCAGGGTAGGCAGCGCTTGGCACAGAGTGTTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCTGATTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTTGTGCCTCGGCCTCCTGGGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGGGTGAGCCACTGCACCCAGCCAGACTTTTTTTTTTTTTCCCATAGTGGGTTTTTGATGAATGAATAGATAAATGAATGGAAGACAAGCAAAACTAGCTACAATATTTTGGGGGGATAAAAACCACCACCACAAAAATGAGGGGCAAGATGGGGCAGGGGCAGGGAGTAGCCATATCAGGTAGTAAAACATTATAAATCTACAATACTTAAAACAGAGTGACACTGCTATATGAGTGGACAGACTGAATAATGGAATAGATAACCAAATATCCATCTAGAGAAAAACTACGTTGAATCTCTATTTCACACCTCACACCAGAAAAAATTCCAGGTGCATTAAAAGTCTAAACAAAATATATATATATATATTACACCATAAAAGCTATAGAAGGAAACAAAAATAACTGTTTTATATCTTGGATTGGGAATTTTATTTTTTATTTTATTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCTCTATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCAATTCTTTTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGTGCCTACAACCACGCCCGGCTAATTTTTGTGTTTTTGGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATGCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGACTGGACTTTTTTTTTTTTTCCAATTTCTTGTACAGATAGGGTCTTACTATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCCCCTGCCTCTTCTTCCCAGCCCCAGATGA
AACTGGGGCATGCAGCACCATGTCCGGCTAATTTATATTCACATTTATATTTATATGCCCGCCTCAGCCCCCCAAAGTGCTGGGATTACAAGAGTGAGCCACAGCGCCCGGCCTTACTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCTACCGCGCCTGGCTCCAAAACCGTTTCTGTTGTCACCTCCTCGAGAGGTGTTTCCAGACCTCCAGGCTGGGTGCTGGACCTTCCCTGGACTCCCCCAGTGAACTGGGCTACCTGGATGACTTTCTGAGTCTCTCTCCCAGAGATAGCCTCTCCCCTCAGCTGCTAACAAGCCTCCCATGGCTCCCCAGTGCCCCAGGACAAGACCCTAGCCTCCTTCCGGCATTCCAGGCCTGCCTGGGTCTAATGAATACTTGCTAAGCATTTTTCAAAACCCAAACTTATTTTTGTAACCTGAACATCTTCTGTGATCCTATTCCTTCTGTCCCTGTACACATGGTTCCCAGGACTGGAAACAGTTTGCTGACTTTTGTACCCAGGAAACCCCCTCCTCCCTCCTCGTCAGACCTAGTTGAAGGGTCGCCTCCTCTGCGAAACCTTTCTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGTCTCCTGGGTTCTCGCCATTGTCCTGCCTCAGCCTCCTGAGTAGCTGCGACTACAGGCGCCCGCCACCAAGCCCGGCTAATTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAATCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCCTCTGGCCTCTGTGAAGGCTTTCACAATGCCCTGGGTCACCTCACCAGAGAACATGCAGCTCCGAATACTGGGGCTCCCACCAGCCTGGGAGACCCAGGAGAGCAGGGCTCGGGGCTGACTCATCTGTGTCCCCAGCTTCTGCCAGCACAGGGCCTGGCCCTCAGGAGACCTCACAGGATGTGGCTGAAAGGACCTGAATGCACCCCCAGCTGGGGCCACATTCCTGTCCCAACACGCCAGTGCCCACCCTCTGCCTTGGTTGCCCAGGAGACCCAGCTGTCTCCTTCCTGCCCTGCTGAGCTGAGGCCACTGGGAGACAGATTTACACAGAAAGTCCACACGGGGGTGAGGGGCTTTGGAGGCTCAAACGACTGTGGGAGCTGGGTATGGGGAGCGCAGCCCAGCCTGGGGGATCAGGGGAGGCTTCTGGGGCGAGAAGCCAATGAGCTGAGTGTAAGCTTCACTCCTGGAGGCTTCCAGGGACCAGTCCTGGTTTCCCCACTGACCTCCACCCAATGCCTTCCCATCTGTGAGCCTTTTTGTCCATCTGAAAAATAATCCCCTCCTCCTTCCTTCCATGGTTTGTTTTCAGGGACCAGGGAGGTCACTTAGCACTGAGCCCTGCACGGTGCTGATGATGTCACCTTCATGTGACATCCAGAGGCATGGCCGAAAGCACGCACGCTGGTCCCTGTGTCTCCAACGCCCAGTGCGCCAGTCGTTCTGGGGATGGGGGTGCTACTTACCCACCTAACTTGTAGTTGCCGACCCCGCCCACCCAGGCCCGGATGAAGGCTGGGTCGGCCAGGAGGGAGACCGGGGTCACGGAGCCTCCAGGGAAGTAGGCACCCACTGGGCAGAGAATGACGAACAGGAGCGCGCGCGTGGGCTGGCTGACACCCAGCGAGGGCTGCGACGGGCAAAGGGACAGCGTCAGGAGTCCAGGCCCCCAGTCCCTTCCCGTCCCCAGGCCCAGGCCTCCAGGACCCCACCCCTGCCCTGCAGAATCCAACCCCCGCAGCCCAGCTTCCCAGCCCTGGAGTTGGGCCCACCTCGTTCCCAATGAGCACAGGCTGCACATAGAGGCTGGTGCCGGCGGCATCGGGGACCCAGTCCTTGTCCACTTCGATGAGCCGGCGGATGCACTCCAGCAACTCCAGCTTGTCGAAACTCTGGGTGGGATTCTGAATGAGTCAAGGGGCCCTTGCTGCCCCGGCCCCAGCCCTCCTCCCCACCCCGGTGGACCGGGACCCCTCACCGGCAGGCACAGGCGCATGGCTGAGCGCAGCATCCGGTCCATGTTGAGCCAGGGGCGGAAGAGGCGCACCTGCTGGTCTTTGCCTTTGAACGCCTTCATGCCCTCAAACAGCTGCGGGGACACGCGGGTGGGGAGGCTCAGAGACTTCTCCAGACAGTCATGAGAGACACCAAGACAGACAGAGACAGATACACAAAGACACAGACAACTGAAAGATGGAGGCCAAGAGGAGAGCACCGGGGAGATTTAGCAGCTGGGTCAGAGAGATGGAGAAAAAGAGAGACAGATATAGACAGGGAGACAAACAGGTAGAGACACACGGAGACTCTAGAAAGCAAAGGACACGACCGGGCTCAGTGGCTCACTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACTTGAGTGTAGGAGTTCGTGACCAGCCCAGGCATTATAGCAAGACCCCATCTCTACCAAAAAATACGAAAATTAGCCAGACGTGGTAGCACGTGACTGGAGTCCCAGGTATTTGGAAGGTGGTGGGAGGATCACTTGAGCCTGGGAGTTTGAGACTGCAGTGAGCCACGATCATGCCACTGCACTCCAGCCTGGGACCTAGTTTTTTTTTTCTGGAGACTCTGTCCCTGATCACTGCCCCATGGTTCCAAGTTTGCTTGTTCAGCATCTGCTCCACTGCAGAGTGGAAGAGCCTGGAAGGCAGGGATTACCCTTGACACGTTTACCAGACAGCCTCTCCTGCAGTCCCATGCACCAGGGTAGGCAGCGCTTGGCACAGAGTGTTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCTGCTGATTGCAACCTCCGCCTCCCAGGTCCAAGTGATTCTTGTGCCTCGGCCTCCTGGGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGGGTGAGCCACTGCACCCAGCCAGACTTTTTTTTTTTTTCCCATAGTGGGTTTTTGATGAATGAATAGATAAATGAATGGAAGACAAGCAAAACTAGCTACAATATTTTGGGGGGATAAAAACCACCACCACAAAAATGAGGGGCAAGATGGGGCAGGGGCAGGGAGTAGCCATATCAGGTAGTAAAACATTATAAATCTACAATACTTAAAACAGAGTGACACTGCTATATGAGTGGACAGACTGAATAATGGAATAGATAACCAAATATCCATCTAGAGAAAAACTACGTTGAATCTCTATTTCACACCTCACACCAGAAAAAATTCCAGGTGCATTAAAAGTCTAAACAAAATATATATATATATATTACACCATAAAAGCTATAGAAGGAAACAAAAATAACTGTTTTATATCTTGGATTGGGAATTTTATTTTTTATTTTATTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCTCTATCTTGGCTCACTGCAACCTCTACCTCCCAGGTTCAAGCAATTCTTTTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGTGCCTACAACCACGCCCGGCTAATTTTTGTGTTTTTGGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATGCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGACTGGACTTTTTTTTTTTTTCCAATTTCTTGTACAGATAGGGTCTTACTATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCCCCTGCCTCTTCTTCCCAGCCCCAGATGA
Task1_train_27451
This variant affects gene BAX (BCL2 associated X, apoptosis regulator) located on Chromosome 19. Evaluate its biological effect and specify any disease association.
Pathogenic; T-cell acute lymphoblastic leukemia
CTTGAACCCGGAGGCAGAGGTTGCAGTAAGCCGAGATCGTGCCATTGCACTCCATCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATGTGTATACCCATGTAAACACCATTCAGATAAAAATATGGCATATTTGGGGCACCCGGGGAGTGTCTCTTGTGGCCCCTCCCCTCCATACCCTGCTGATCTATCAGCACAGATTAGTTTCTGCCACTTTTTAAACTTCATATTCCTTTTCTTTTTACACAAACACAAACATTCGAGTCATGACTGGGTGGGGTGGCTCAAGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGCGAGGATCGCTTGAGTCTGGGAGTTCAGAGACCAGCCTGGGCAACATAGAGAGACCTCATCTCCACATAAAAAGTTTTAAAAATTAACCAGGGGCGGTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGCTTCAGCCCGGGAATTCCAGACTGCAGTGAGCCATGATTGGGCCACTGCACTCCAGCCTGGGCAACACAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAACAGGAAAAAACAAACAAACAGAAAAGCAGGCCTGGCGCGGTAGCTCATGCCTGTAATCCCAGCGCTTTGGAAGGCTGAGACGGGGTTATCTCTTGGGCTCACAAGTTAGAGACAAGCCTGGGCGTGGGCTATATTGCTAGATCCAGGTCTCTGCAAAAAACAAAACCACTCAGTTTTTAGTCATCTATAACGTCCTGCCTGGAAGCATGCTATTTTGGGCCTCTGAGCTTTTGCACTTGCTAATTCCTTCTGCGCTGGGGAGAGCTCAAACCCTGCCCGAAACTTCTAAAAATGGTGCCTGGATAAATGAAGGCATTAGAGCTGCGATTGGACGGACGGCTGTTGGACGGCGCCACTGCTGGCACTTATCGGGAGATGCTCATTGGACAGTCACGTGACGGGACCAAACCTCCCGAGGGAGCGAGGCAGGTGCGGTCACGTGACCCGGCGGCGCTGCGGGGCAGCGGCCATTTTGCGGGGCGGCCACGTGAAGGACGCACGTTCAGCGGGGCTCTCACGTGACCCGGGCGCGCTGCGGCCGCCCGCGCGGACCCGGCGAGAGGCGGCGGCGGGAGCGGCGGTGATGGACGGGTCCGGGGAGCAGCCCAGAGGCGGGGGTGAGGCGGGAGGCAGACGGGCGGGAGGAGGGCGAGCCCCCTCGCCGGCCCGTCCGGGATCCTTCCTACCGGCCTGGGGCTGTGCGATCTCCAAGCACTGAGGGGCAGAAACTCCCGGATCGGGCGCTGCCAGCCTCCAGTCCCCTCCGTCCTCGGAGGTTCCTGGCTCTCTGATCCCCGTGTCCCGATCCCTGCCTCTCTGGCGCTCTCGGACCCTCGAGAACCAGGGGATCTCGGAAGCCAAGCCCCCGGGCAGGCCCGGGCTTGTCGCCCGCACCACTTCCTGCCTCTGGCACTGGTGGGAGGGGCGGGTCTCGCCTCTGCCCCCTCAGGCCAGGGGTCTGGATGCATATAGCGTTCCCCTAGCCTCTTTCCCCGGGGAGAATGTAGGATACAGGCCCAGCCTCCTGGCCTTTCTCCATCAGGGACTCAGTTGTCTGGGCCCCCCCGTCACTTTATCTGCTAGGGTCCCAGAAGTCCAGGGTCCCCAGCTCTGTCCTCCCTCAGGGGCCGTGAGTCTCCACAGTCTCCTGATCCCCTAGAACCCAAGAGTCCAGGTACCTCTTCCCTTCCTTTCTCCTCTAGGGCCCACCAGCTCTGAGCAGATCATGAAGACAGGGGCCCTTTTGCTTCAGGGGTGAGTTTGAGGTCTGATTATTGTGGCACAGATTTGAGGAGTGACACCCCGTTCTGATTCTGCACCCTCACTCCATCCCCACTCTAGTTTCATCCAGGATCGAGCAGGGCGAATGGGGGGGGAGGCACCCGAGCTGGCCCTGGACCCGGTGCCTCAGGATGCGTCCACCAAGAAGCTGAGCGAGTGTCTCAAGCGCATCGGGGACGAACTGGACAGTAACATGGAGCTGCAGAGGTGTGGGCCCCTGAGGACCCAGAAGTCCAGCCACTGGGCTCCTTCAGGACACAGGACTCTCAGCCCCGCATTCTCCTCCTCCCCTAAGAACTAGGAGTCTGGGCCCCACAACTCAGCGCAAACATTCCGGACTCCCAGCCCTCCTCTCTGCCAGGATCTTAAAACCCTCCTTCAGGGAGTCATTTTTCCCACCTTCCTAAATGTCTGTCTTGTCCCCTTCCCTTGTCCCCCGTTGGCCTGTTGCTTTTCATTTCAGCCTGGCTTGGGGCTCAGTCTCCTTATCTTTAGTGTGCGGTGGATGCGGGAATTTTCCACCATCAGCCTGATGCCTGCTCCCCGGCACTGGTTCTCCTCTCTCCTGCAGGATGATTGCCGCCGTGGACACAGACTCCCCCCGAGAGGTCTTTTTCCGAGTGGCAGCTGACATGTTTTCTGACGGCAACTTCAACTGGGGCCGGGTTGTCGCCCTTTTCTACTTTGCCAGCAAACTGGTGCTCAAGGTGGGCAGCTGCAGGGCAGTGAGCCCAGGGATGCTCCCCCTCAGATCTGTGAGGACCTGGGGATCGTGGTATCAACCCCCTGCAGTGGCCCAGTGACCACAGAGGGCATGGAGAGAGATGGCTGTGCACTGGGTGTCTGCTCCTTCTTTTATTCATTCAACAAGCATTTACTGGACCTGCTATGTGCCAGGCCTATACCTGGCACCTGGGACACAGCACTGTACAAAGCAGGCTACATCCCTGCTCTCAGGGAGTTCACGTGCAGGGGTGAAGTAAAGTGGGCAGTGTGATTTAGCAGAGTGGTCAGGAAAGATTTCTATTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTTGAGTGCAATGGCATGATCTTGGTTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTATGGGTGTGCACCATTATCCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCAACAAGCCAGGAAAGACTTCTAAGGGCAGGTGACATCAAAGAGCAGGTGACATTAAAGCCAAAGCTAGAATGATAAGAAGCATGCAGTGATCTATAGTGATCGGGGGGAAGAGGCATCTGGTAGAGGGAACAGCAAGTGCAAAGGCCCTGAGGTAGGACCAAGCCTCATCTTTTGACAGTAGGGAGGAGGCCAGTGCTGTTGGAACAGAGTGAACTGGGGAGAGGGTGGGAAAGGAAGGCACAGTTGGGCAGGGGCAGATTGTGTGGAGTTTTTCGGGCTGCTGGAAAGACTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGACTCTCATGCTTTAGCCTCCCAAGTAGCTAGAATTACAGGCACACACCACCATGCCTGGCTAGTTTTTGTATTTTTAGTAGAGACGGAGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTGCACCCAGCCTGGAAAGACTTTAACTTTACTCTGAGTGTGATGGGAGTGATTGGCTGGTTTTAAATACGGAAGCGACAAGACCTGATTTATAACTTTAAGAGATTATTCTAGCAAGTATAGATGCCCCTTGACTTGCAATGGTGTTACATCCTAGTAATCCCATCATAAATTGAAAATAACATAAGTTGAAAATGCATTCAATGCCCCGATAAACCCATAGTAAGGTCAAAATTGTAAGTCAAACCGTCATAAGTTGGGGACTGTCTGTATAGCAAAATGTT
CTTGAACCCGGAGGCAGAGGTTGCAGTAAGCCGAGATCGTGCCATTGCACTCCATCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATGTGTATACCCATGTAAACACCATTCAGATAAAAATATGGCATATTTGGGGCACCCGGGGAGTGTCTCTTGTGGCCCCTCCCCTCCATACCCTGCTGATCTATCAGCACAGATTAGTTTCTGCCACTTTTTAAACTTCATATTCCTTTTCTTTTTACACAAACACAAACATTCGAGTCATGACTGGGTGGGGTGGCTCAAGCCTGTAATCTCAGCACTTTGGGAGGCCAAGGTGCGAGGATCGCTTGAGTCTGGGAGTTCAGAGACCAGCCTGGGCAACATAGAGAGACCTCATCTCCACATAAAAAGTTTTAAAAATTAACCAGGGGCGGTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGCTTCAGCCCGGGAATTCCAGACTGCAGTGAGCCATGATTGGGCCACTGCACTCCAGCCTGGGCAACACAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAACAGGAAAAAACAAACAAACAGAAAAGCAGGCCTGGCGCGGTAGCTCATGCCTGTAATCCCAGCGCTTTGGAAGGCTGAGACGGGGTTATCTCTTGGGCTCACAAGTTAGAGACAAGCCTGGGCGTGGGCTATATTGCTAGATCCAGGTCTCTGCAAAAAACAAAACCACTCAGTTTTTAGTCATCTATAACGTCCTGCCTGGAAGCATGCTATTTTGGGCCTCTGAGCTTTTGCACTTGCTAATTCCTTCTGCGCTGGGGAGAGCTCAAACCCTGCCCGAAACTTCTAAAAATGGTGCCTGGATAAATGAAGGCATTAGAGCTGCGATTGGACGGACGGCTGTTGGACGGCGCCACTGCTGGCACTTATCGGGAGATGCTCATTGGACAGTCACGTGACGGGACCAAACCTCCCGAGGGAGCGAGGCAGGTGCGGTCACGTGACCCGGCGGCGCTGCGGGGCAGCGGCCATTTTGCGGGGCGGCCACGTGAAGGACGCACGTTCAGCGGGGCTCTCACGTGACCCGGGCGCGCTGCGGCCGCCCGCGCGGACCCGGCGAGAGGCGGCGGCGGGAGCGGCGGTGATGGACGGGTCCGGGGAGCAGCCCAGAGGCGGGGGTGAGGCGGGAGGCAGACGGGCGGGAGGAGGGCGAGCCCCCTCGCCGGCCCGTCCGGGATCCTTCCTACCGGCCTGGGGCTGTGCGATCTCCAAGCACTGAGGGGCAGAAACTCCCGGATCGGGCGCTGCCAGCCTCCAGTCCCCTCCGTCCTCGGAGGTTCCTGGCTCTCTGATCCCCGTGTCCCGATCCCTGCCTCTCTGGCGCTCTCGGACCCTCGAGAACCAGGGGATCTCGGAAGCCAAGCCCCCGGGCAGGCCCGGGCTTGTCGCCCGCACCACTTCCTGCCTCTGGCACTGGTGGGAGGGGCGGGTCTCGCCTCTGCCCCCTCAGGCCAGGGGTCTGGATGCATATAGCGTTCCCCTAGCCTCTTTCCCCGGGGAGAATGTAGGATACAGGCCCAGCCTCCTGGCCTTTCTCCATCAGGGACTCAGTTGTCTGGGCCCCCCCGTCACTTTATCTGCTAGGGTCCCAGAAGTCCAGGGTCCCCAGCTCTGTCCTCCCTCAGGGGCCGTGAGTCTCCACAGTCTCCTGATCCCCTAGAACCCAAGAGTCCAGGTACCTCTTCCCTTCCTTTCTCCTCTAGGGCCCACCAGCTCTGAGCAGATCATGAAGACAGGGGCCCTTTTGCTTCAGGGGTGAGTTTGAGGTCTGATTATTGTGGCACAGATTTGAGGAGTGACACCCCGTTCTGATTCTGCACCCTCACTCCATCCCCACTCTAGTTTCATCCAGGATCGAGCAGGGCGAATGGGGGGGGAGGCACCCGAGCTGGCCCTGGACCCGGTGCCTCAGGATGCGTCCACCAAGAAGCTGAGCGAGTGTCTCAAGCGCATCAGGGACGAACTGGACAGTAACATGGAGCTGCAGAGGTGTGGGCCCCTGAGGACCCAGAAGTCCAGCCACTGGGCTCCTTCAGGACACAGGACTCTCAGCCCCGCATTCTCCTCCTCCCCTAAGAACTAGGAGTCTGGGCCCCACAACTCAGCGCAAACATTCCGGACTCCCAGCCCTCCTCTCTGCCAGGATCTTAAAACCCTCCTTCAGGGAGTCATTTTTCCCACCTTCCTAAATGTCTGTCTTGTCCCCTTCCCTTGTCCCCCGTTGGCCTGTTGCTTTTCATTTCAGCCTGGCTTGGGGCTCAGTCTCCTTATCTTTAGTGTGCGGTGGATGCGGGAATTTTCCACCATCAGCCTGATGCCTGCTCCCCGGCACTGGTTCTCCTCTCTCCTGCAGGATGATTGCCGCCGTGGACACAGACTCCCCCCGAGAGGTCTTTTTCCGAGTGGCAGCTGACATGTTTTCTGACGGCAACTTCAACTGGGGCCGGGTTGTCGCCCTTTTCTACTTTGCCAGCAAACTGGTGCTCAAGGTGGGCAGCTGCAGGGCAGTGAGCCCAGGGATGCTCCCCCTCAGATCTGTGAGGACCTGGGGATCGTGGTATCAACCCCCTGCAGTGGCCCAGTGACCACAGAGGGCATGGAGAGAGATGGCTGTGCACTGGGTGTCTGCTCCTTCTTTTATTCATTCAACAAGCATTTACTGGACCTGCTATGTGCCAGGCCTATACCTGGCACCTGGGACACAGCACTGTACAAAGCAGGCTACATCCCTGCTCTCAGGGAGTTCACGTGCAGGGGTGAAGTAAAGTGGGCAGTGTGATTTAGCAGAGTGGTCAGGAAAGATTTCTATTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTTGAGTGCAATGGCATGATCTTGGTTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTATGGGTGTGCACCATTATCCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCAACAAGCCAGGAAAGACTTCTAAGGGCAGGTGACATCAAAGAGCAGGTGACATTAAAGCCAAAGCTAGAATGATAAGAAGCATGCAGTGATCTATAGTGATCGGGGGGAAGAGGCATCTGGTAGAGGGAACAGCAAGTGCAAAGGCCCTGAGGTAGGACCAAGCCTCATCTTTTGACAGTAGGGAGGAGGCCAGTGCTGTTGGAACAGAGTGAACTGGGGAGAGGGTGGGAAAGGAAGGCACAGTTGGGCAGGGGCAGATTGTGTGGAGTTTTTCGGGCTGCTGGAAAGACTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGACTCTCATGCTTTAGCCTCCCAAGTAGCTAGAATTACAGGCACACACCACCATGCCTGGCTAGTTTTTGTATTTTTAGTAGAGACGGAGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTGCACCCAGCCTGGAAAGACTTTAACTTTACTCTGAGTGTGATGGGAGTGATTGGCTGGTTTTAAATACGGAAGCGACAAGACCTGATTTATAACTTTAAGAGATTATTCTAGCAAGTATAGATGCCCCTTGACTTGCAATGGTGTTACATCCTAGTAATCCCATCATAAATTGAAAATAACATAAGTTGAAAATGCATTCAATGCCCCGATAAACCCATAGTAAGGTCAAAATTGTAAGTCAAACCGTCATAAGTTGGGGACTGTCTGTATAGCAAAATGTT
Task1_train_27452
A variant was discovered on Chromosome 19, affecting FTL (ferritin light chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Neuroferritinopathy
GGCTTCTCTTTGTGGGCCTGAAGGAGCACACGTCAGGCAAGACACGAGGGCAACTTCAGAGACACTGTTCAGGGCCACGGAGAATTCTCGAAGTCTGTGAGTTGTCTCCAAAACAGCCTCCAGGAAATGCAATCCCAGAGACACCGCAAAGCTCAAAACAGACTTTTCATTCCTCCCCATTTCCACTCCCAGAAAAAGCCTGGGCCCCTGAAAGAGCTCCAAGGTATCCCCAAAGTCCCAGCCCATCTTTGGAGGGTTCCAGAGGGCTGTCCAGGGTTCCAGAAGTCACCCTACCTCATACAATGCTCCTCCTGGGCTTCCCGCACTGGGTGAAACCCACGGCTCCAGAATAACTGCCCTTTCCAACTTGCAGAGCACCTCAAGAACCTAAAGATTTCCCCGGGGAGGGCTCCAAAATATAGAGAGTTTGCATCGTGAACCCCCACCCCTGTAAATCCCAGGACTCCAGTCCCCGCAACACTCCATCTTCCAGAGATCTCCAGGGGTCCAGAAATAACACCTCACAGCCTTCCAAGCTTCCCAAGGATCCGGAGACTCCTTATCTCGCAGCGCAAACCTCAGGCAACTACAGGTCCTCCCTGCACCTTTGAGGTGCCCCTCCCCCCACTCAAGGTTCCAGAAAAATCCATGCCCTCGGAAACCCCAGAATCTTACTTTCCCGAGGCACCCCAGGACCCCAGGGTCATCAGTTCACAGGGCTGTTAGTGCTCCCATAAAACTCTAGCCTCCCAGAGGGACCCCAGCCCCCACCCTCCCGCCCACGAACCCCTGCATTTCCAGAATCAGCCCCAGGGCCCCAACCCCCCCAAGCCCCCATTTCACAACACGCTGGCGCTACAGGCGCGTGACTTCCCCTTGCTTTGGGGCGGGGGGCTGAGACTCCTATGTGCTCCGGATTGGTCAGGCACGGCCTTCGGCCCCGCCTCCTGCCACCGCAGATTGGCCGCTAGCCCTCCCCGAGCGCCCTGCCTCCGAGGGCCGGCGCACCATAAAAGAAGCCGCCCTAGCCACGTCCCCTCGCAGTTCGGCGGTCCCGCGGGTCTGTCTCTTGCTTCAACAGTGTTTGGACGGAACAGATCCGGGGACTCTCTTCCAGCCTCCGACCGCCCTCCGATTTCCTCTCCGCTTGCAACCTCCGGGACCATCTTCTCGGCCATCTCCTGCTTCTGGGACCTGCCAGCACCGTTTTTGTGGTTAGCTCCTTCTTGCCAACCAACCATGAGCTCCCAGATTCGTCAGAATTATTCCACCGACGTGGAGGCAGCCGTCAACAGCCTGGTCAATTTGTACCTGCAGGCCTCCTACACCTACCTCTCTCTGGTGAGTCCCCAGGACGCCCCTGGCCCTAATTTCCTCCAGCTGCGCACCTCCGGCCCTCACTGCACGCGCCAGCCTTCTTTGTGCGGTCGGGTAAACAGAGGGCGGAGTCCCCTTGGCCTCGCCTCCCGCTAACCATTGTTGCCTCCATCTCTTCCCGTAGGGCTTCTATTTCGACCGCGATGATGTGGCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAATTGGCCGAGGAGAAGCGCGAGGGCTACGAGCGTCTCCTGAAGATGCAAAACCAGCGTGGCGGCCGCGCTCTCTTCCAGGACATCAAGGTAACTAGTGTGTGGGTAATGGACTACATCTCCCAGCAGGCCGTGCGCGCGAGGAGCCTTGATTTGAGGGCGTAGGTGTCGCGTGGGCTTCTGGGAGATTGAGTTCGGTCTTGTGAGCCCTCTTAACCGCTGGAAATAGAGGCGCACCTCGTGCAGTGCCCACAACACGCGGCAGTCCACACCGCTGCGTGGTCTTAGGGACGTATAGCTGTAAGAGCTAGGACAGGGTGCGGAGAGTGATAAATACAAGCTGTCACATGTCTTTGTGGCCTGGGCCTCTGACCCCCAACGACTCTTGGGAAATGTAGGTTTAGTTCTATGTGCCGAGTGTGTGTATTCTGAGCCATTTCTCCCTTCTATATAGAAGCCAGCTGAAGATGAGTGGGGTAAAACCCCAGACGCCATGAAAGCTGCCATGGCCCTGGAGAAAAAGCTGAACCAGGCCCTTTTGGATCTTCATGCCCTGGGTTCTGCCCGCACGGACCCCCATGTACGTACCCGCTGCATCCATGGCTACCCAACCATACCCCTCAAGCCTCTGCTCCCTTTGGGCAAATTTCCTTCAGAGCCTCATTTCACACCTGTCACATTTTAATCTGCAACTGGCTGCTCTCTCCCCCTCTTTTCCAGGGATTGGGTTTCTAATTTCTCCCTCTTCTCTCTCAGCTCTGTGACTTCCTGGAGACTCACTTCCTAGATGAGGAAGTGAAGCTTATCAAGAAGATGGGTGACCACCTGACCAACCTCCACAGGCTGGGTGGCCCGGAGGCTGGGCTGGGCGAGTATCTCTTCGAAAGGCTCACTCTCAAGCACGACTAAGAGCCTTCTGAGCCCAGCGACTTCTGAAGGGCCCCTTGCAAAGTAATAGGGCTTCTGCCTAAGCCTCTCCCTCCAGCCAATAGGCAGCTTTCTTAACTATCCTAACAAGCCTTGGACCAAATGGAAATAAAGCTTTTTGATGCAGCTGGTGGTTTTGTGTGTGGTGTGGAAGATGAGGTGGGATCTGTTCTCATAAAGCTTCTGGCTGGGTTGGGATGCCAGTGAAAGAGGAGTTGGCCCCATCTCCCATTTTCTTAACTGTCCTAAGACAAGAGGCTATCTGGGTAGTGTTGAACCTGAGGGTTCTCTGCTTGCCTGGCTGTTAACTGTCCCTCCCAGATGGTAGAGATAGACTCCAGGGAGTTGAATTAAGACCTAGGTTGGTATCTAGAAACAGATGTTAGGTCTCAGCCAGAAACAGCCCTATTTAACGAGTGATTATGGGGCCAGGTGGGTCGCTCACCTGATGTCAGGAGTTCGAGACCAGCCTGACCAACATGAAGAAACCCCGTCTCTACTAAAATACAAAATTAGCTGGGTGTGGTGGCTCATACCTGTAATCCCAGCTAGTCAGGAGGTTGAGGTAGGAGAATCGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGCGTCATTGCACTCCAGCCTGGGCAAAAAGAGTGGAACTCCCATCTCAAACAAAAAACATGTCTGCCTCACGGAAGTTGCGGTGAGCTGAGATGGCGCCACTGTGCTCCAGCTTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAGAAAAAAGCCTCAATTCTGGGAGGCAGTTGGAATTATTAGGCCCTTTATATGGGCACATTGACGCTATTGCTATGCAACTTGCATGGCAACCGGGGGGCTCACTGAGGTCTTTGCTCCAGAGTTTAAGAGATTATGGCCCGAGCTTGAGTGATCCCAATGTGAGGCGCACACTGAGAGGAACTGGCCAGTGGAGCTGAGCAGCCAGGAACACGTGATGCCCAAGCAATGCTGGACAAGGGGTTTAGGGTTCATCACAGAAATGGGATGTGAAACCTTGGGCCGGATTCTCCAAATGGGAACTGAAGAAGCTTAAAACAGGCCTTAAAAAGCACTTGCTGTGTCCAAGCTGCAAAACTGCTGTGTCAGCTCTGACTCTTCCCCTTCTCCTTCCCCTGGGTCTGGGGCAGGGTGGTTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGACGATCACTTGAGCCCAGGAGGTTGAGACCAGCCTAAGCAACATAGGGAGACCCCCCAAGTCTCTCTAGAATAAGAGGATGAGCTCAGACCAGGGAAGGGGTGGTACTGGGGGGACGTCACAGCCAGGCCCACCAAGTGTCATGTCTGACCACACCTGGGATTCTTAAATATAGATGTATTTTTTTCATCTCATCTCCGGACACACTCCAATCACACCCCTCCTGCCCTCCCCTCTCAACTGCAAACCAAGCGGTGCAGACACAGCACAGCACACATGAGGGGCCCTCCCTTTCACCAAAGCTGAAGGCAGGGCACAGTTTGGGGATGGAAGAGCCTCGAGGTAAATGTGGGGGTTCTAGAACCCAGTGACCTCAGTTCTGGATCATGGGAAAGGG
GGCTTCTCTTTGTGGGCCTGAAGGAGCACACGTCAGGCAAGACACGAGGGCAACTTCAGAGACACTGTTCAGGGCCACGGAGAATTCTCGAAGTCTGTGAGTTGTCTCCAAAACAGCCTCCAGGAAATGCAATCCCAGAGACACCGCAAAGCTCAAAACAGACTTTTCATTCCTCCCCATTTCCACTCCCAGAAAAAGCCTGGGCCCCTGAAAGAGCTCCAAGGTATCCCCAAAGTCCCAGCCCATCTTTGGAGGGTTCCAGAGGGCTGTCCAGGGTTCCAGAAGTCACCCTACCTCATACAATGCTCCTCCTGGGCTTCCCGCACTGGGTGAAACCCACGGCTCCAGAATAACTGCCCTTTCCAACTTGCAGAGCACCTCAAGAACCTAAAGATTTCCCCGGGGAGGGCTCCAAAATATAGAGAGTTTGCATCGTGAACCCCCACCCCTGTAAATCCCAGGACTCCAGTCCCCGCAACACTCCATCTTCCAGAGATCTCCAGGGGTCCAGAAATAACACCTCACAGCCTTCCAAGCTTCCCAAGGATCCGGAGACTCCTTATCTCGCAGCGCAAACCTCAGGCAACTACAGGTCCTCCCTGCACCTTTGAGGTGCCCCTCCCCCCACTCAAGGTTCCAGAAAAATCCATGCCCTCGGAAACCCCAGAATCTTACTTTCCCGAGGCACCCCAGGACCCCAGGGTCATCAGTTCACAGGGCTGTTAGTGCTCCCATAAAACTCTAGCCTCCCAGAGGGACCCCAGCCCCCACCCTCCCGCCCACGAACCCCTGCATTTCCAGAATCAGCCCCAGGGCCCCAACCCCCCCAAGCCCCCATTTCACAACACGCTGGCGCTACAGGCGCGTGACTTCCCCTTGCTTTGGGGCGGGGGGCTGAGACTCCTATGTGCTCCGGATTGGTCAGGCACGGCCTTCGGCCCCGCCTCCTGCCACCGCAGATTGGCCGCTAGCCCTCCCCGAGCGCCCTGCCTCCGAGGGCCGGCGCACCATAAAAGAAGCCGCCCTAGCCACGTCCCCTCGCAGTTCGGCGGTCCCGCGGGTCTGTCTCTTGCTTCAACAGTGTTTGGACGGAACAGATCCGGGGACTCTCTTCCAGCCTCCGACCGCCCTCCGATTTCCTCTCCGCTTGCAACCTCCGGGACCATCTTCTCGGCCATCTCCTGCTTCTGGGACCTGCCAGCACCGTTTTTGTGGTTAGCTCCTTCTTGCCAACCAACCATGAGCTCCCAGATTCGTCAGAATTATTCCACCGACGTGGAGGCAGCCGTCAACAGCCTGGTCAATTTGTACCTGCAGGCCTCCTACACCTACCTCTCTCTGGTGAGTCCCCAGGACGCCCCTGGCCCTAATTTCCTCCAGCTGCGCACCTCCGGCCCTCACTGCACGCGCCAGCCTTCTTTGTGCGGTCGGGTAAACAGAGGGCGGAGTCCCCTTGGCCTCGCCTCCCGCTAACCATTGTTGCCTCCATCTCTTCCCGTAGGGCTTCTATTTCGACCGCGATGATGTGGCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAATTGGCCGAGGAGAAGCGCGAGGGCTACGAGCGTCTCCTGAAGATGCAAAACCAGCGTGGCGGCCGCGCTCTCTTCCAGGACATCAAGGTAACTAGTGTGTGGGTAATGGACTACATCTCCCAGCAGGCCGTGCGCGCGAGGAGCCTTGATTTGAGGGCGTAGGTGTCGCGTGGGCTTCTGGGAGATTGAGTTCGGTCTTGTGAGCCCTCTTAACCGCTGGAAATAGAGGCGCACCTCGTGCAGTGCCCACAACACGCGGCAGTCCACACCGCTGCGTGGTCTTAGGGACGTATAGCTGTAAGAGCTAGGACAGGGTGCGGAGAGTGATAAATACAAGCTGTCACATGTCTTTGTGGCCTGGGCCTCTGACCCCCAACGACTCTTGGGAAATGTAGGTTTAGTTCTATGTGCCGAGTGTGTGTATTCTGAGCCATTTCTCCCTTCTATATAGAAGCCAGCTGAAGATGAGTGGGGTAAAACCCCAGACACCATGAAAGCTGCCATGGCCCTGGAGAAAAAGCTGAACCAGGCCCTTTTGGATCTTCATGCCCTGGGTTCTGCCCGCACGGACCCCCATGTACGTACCCGCTGCATCCATGGCTACCCAACCATACCCCTCAAGCCTCTGCTCCCTTTGGGCAAATTTCCTTCAGAGCCTCATTTCACACCTGTCACATTTTAATCTGCAACTGGCTGCTCTCTCCCCCTCTTTTCCAGGGATTGGGTTTCTAATTTCTCCCTCTTCTCTCTCAGCTCTGTGACTTCCTGGAGACTCACTTCCTAGATGAGGAAGTGAAGCTTATCAAGAAGATGGGTGACCACCTGACCAACCTCCACAGGCTGGGTGGCCCGGAGGCTGGGCTGGGCGAGTATCTCTTCGAAAGGCTCACTCTCAAGCACGACTAAGAGCCTTCTGAGCCCAGCGACTTCTGAAGGGCCCCTTGCAAAGTAATAGGGCTTCTGCCTAAGCCTCTCCCTCCAGCCAATAGGCAGCTTTCTTAACTATCCTAACAAGCCTTGGACCAAATGGAAATAAAGCTTTTTGATGCAGCTGGTGGTTTTGTGTGTGGTGTGGAAGATGAGGTGGGATCTGTTCTCATAAAGCTTCTGGCTGGGTTGGGATGCCAGTGAAAGAGGAGTTGGCCCCATCTCCCATTTTCTTAACTGTCCTAAGACAAGAGGCTATCTGGGTAGTGTTGAACCTGAGGGTTCTCTGCTTGCCTGGCTGTTAACTGTCCCTCCCAGATGGTAGAGATAGACTCCAGGGAGTTGAATTAAGACCTAGGTTGGTATCTAGAAACAGATGTTAGGTCTCAGCCAGAAACAGCCCTATTTAACGAGTGATTATGGGGCCAGGTGGGTCGCTCACCTGATGTCAGGAGTTCGAGACCAGCCTGACCAACATGAAGAAACCCCGTCTCTACTAAAATACAAAATTAGCTGGGTGTGGTGGCTCATACCTGTAATCCCAGCTAGTCAGGAGGTTGAGGTAGGAGAATCGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATGGCGTCATTGCACTCCAGCCTGGGCAAAAAGAGTGGAACTCCCATCTCAAACAAAAAACATGTCTGCCTCACGGAAGTTGCGGTGAGCTGAGATGGCGCCACTGTGCTCCAGCTTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAGAAAAAAGCCTCAATTCTGGGAGGCAGTTGGAATTATTAGGCCCTTTATATGGGCACATTGACGCTATTGCTATGCAACTTGCATGGCAACCGGGGGGCTCACTGAGGTCTTTGCTCCAGAGTTTAAGAGATTATGGCCCGAGCTTGAGTGATCCCAATGTGAGGCGCACACTGAGAGGAACTGGCCAGTGGAGCTGAGCAGCCAGGAACACGTGATGCCCAAGCAATGCTGGACAAGGGGTTTAGGGTTCATCACAGAAATGGGATGTGAAACCTTGGGCCGGATTCTCCAAATGGGAACTGAAGAAGCTTAAAACAGGCCTTAAAAAGCACTTGCTGTGTCCAAGCTGCAAAACTGCTGTGTCAGCTCTGACTCTTCCCCTTCTCCTTCCCCTGGGTCTGGGGCAGGGTGGTTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGACGATCACTTGAGCCCAGGAGGTTGAGACCAGCCTAAGCAACATAGGGAGACCCCCCAAGTCTCTCTAGAATAAGAGGATGAGCTCAGACCAGGGAAGGGGTGGTACTGGGGGGACGTCACAGCCAGGCCCACCAAGTGTCATGTCTGACCACACCTGGGATTCTTAAATATAGATGTATTTTTTTCATCTCATCTCCGGACACACTCCAATCACACCCCTCCTGCCCTCCCCTCTCAACTGCAAACCAAGCGGTGCAGACACAGCACAGCACACATGAGGGGCCCTCCCTTTCACCAAAGCTGAAGGCAGGGCACAGTTTGGGGATGGAAGAGCCTCGAGGTAAATGTGGGGGTTCTAGAACCCAGTGACCTCAGTTCTGGATCATGGGAAAGGG
Task1_train_27453
The variant affects gene LHB (luteinizing hormone subunit beta), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Isolated lutropin deficiency
CTTGATCCAGTAATCCTGGAGGCAGAGATCTAGCTTAAAGCAGCCCAGCTCCGCGGAAAGGTGCCCTTGGGGGACTGACGCAGCTGTGGAAGGCTGCGTCATCAGGGGTGATGTCATCATGTGACAGGAGACGCGAGCTAAAGGTTAAGTGGTGTTGGGCCCAGTGAGTGGGTGGCGATGGGAGGTGAGAGTGTTCCCAGCAAAGGGAATGAAGAGGGAACATGCCCCTGACAGCCCCCTCTTTCTGCCTCTTCCTCAGAATCCGGGGCACCAGCTACCAGAGCCCTCACGGCATCCCCATAGACCTGCTGGACCGGCTGCTTATCGTCTCCACCACCCCCTACAGCGAGAAAGACACGAAGCAGATCCTCCGCATCCGGTGCGGGCAGGACCAGGCCGTGCGCCTGAGACGCAGGGCTGGGGTCTACCCTGTTTGACAAATGCTGACACTGAGGTCCAGCGGAGTGGCATGGTGGCTGGGCCTACAGGAGAGAGGGCTGAGCGGGCACCCAGACGGTGGCCTCCGATCCGGGAGCAGGAGCCACGGTGGGAAAGGGAGGCGAGGTACCCGTGACTGGTGTTGGGGCCAGCGCCCTGGGGGTGGTCAGGAGGCCTCGGTTTTAGGTCCAGCCCAGCCCCTGTCTCCGTGGCTCTTCTAGCCTCAGCATTCTATGGTTCTAAGATGCAGGCGCCACATATTCCCAGTGGGGAAGGGCCAGAGGGTTGCTGTGGCCACTTCTGCTGCAGTCAGAGGCTGGGCCCCGGCTGAGCCACCCCTGTCCCCCACTGCTTGCAGGTGCGAGGAAGAAGATGTGGAGATGAGTGAGGACGCCTACACGGTGCTGACCCGCATCGGGCTGGAGACGTCACTGCGCTACGCCATCCAGCTCATCACAGCTGCCAGCTTGGTGTGCCGGAAACGCAAGGTCAGCCGGCCGAATTAGCCAGCAGGGCCAGATGGCGGCAGTGAGTGACACAGTACTTCAGGGGCTTCCAGGGTTCCGATTTCATCCTAGAATGTACGTTTTCAGACGCAGGGAATTTTCATCCCTCAGGTTGGCTTCTGTATCATCCAGCCTGGCCTATAGTAGGTATCAGTAAATCTCTCTTGACTTAAGTAGATGCTGTTAGGTCCACCTTACAGATAAAGAAACTGAGGAATGAAGAGGCTGGGCCCACAACAAGGAGATGGCCAGGCAGGATTTGAACCCAGGCAATCTGGCCCAGAATGCCCTCCCCTCACATGCCACACTCTGCTGCCTAGAGCATGGAGGTGGCATACGCTGGGGTCTGTGCCTTGAGCCTCACGGAGAGGGGCCCAACTGAGGACTCGCCCTCCCCCTCCAGGGTACAGAAGTGCAGGTGGATGACATCAAGCGGGTCTACTCACTCTTCCTGGACGAGTCCCGCTCCACGCAGTACATGAAGGAGTACCAGGACGCCTTCCTCTTCAACGAACTCAGTAAGAATCCCCACCCCGCACCTGCACTGCCAGAGCCAACCTCAGAGGGAGGAAGAGGGAGCTCGGCGTAGAAGGCTCAGGCCCTGCCACCTGGGCGACACTGACCATGTGGCCTTCCTTCTCCCCACAGAAGGCGAGACCATGGACACCTCCTGAGTTGGATGTCATCCCCCGACCCCACCCTGTTTTCCACCAGAGTTCTGACACTGTGACTCTGTATAAAATGGTTGGGAAGCTGCACCCACCCTGTGTATGTGTGGTTGCCCTGAGCCCACAGAAAGACACCTCCAGAGTGCGGATTGAGAAGCCTTTATTGTGGGAGGATCGGGGTGTCAGGGCTCCAGGAGTCGGGATGGACTTGGAAGGCTGCGGGGAGGGTCTTTAGAGGAAGAGGAGGCCTGAGAGTTGGGGGTGGTCACAGGTCAAGGGGTGGTCTTTGGGACCCCCACAGTCAGAGGTGCTGCGGCGGCAGGGTCCACAGCGACAGCTGAGAGCCACAGGGAAGGAGACCACGGGGTCCACACCACGCGGGCAGCCAGGGAGCCGGATGGACTCGAAGCGCACATCACGGTAGGTGCACACCACCTGAGGCAGGGGCGGCAGGACCGCCTGCAGCACGCGCATCTGGAGGCCGTGTGAGTGGGGGAATGAGCATGTGCCTGAGGCCAGCGCCTCAGCTGAGCTCCCAAGCTGACCCCACAGGTCCTGGACTCAGGAGCCCAGGAAGCCCTCTGTTCCTGCCTTCCCACACCCCATTCCCCAACCGCAGGCCAGAGAGGCAGACCACCCTTCCTCCCCCGCTGCCTCTGTGGGTCTGGCCCTGAGGTGGCAGCATCTGCCCCTGGCCCCAGGCAGCTCACCATGGTGGGGCAGTAGCCGGCACAGATGGTGGTGTTGACGGTGATGCACACTGGGCAGCCCTCCTTCTCGACAGCCAGGATGGCATTGATGGGGTGGCACCATGGCCGAAGCGGCTCCCTGGATGCCCATGCCCCGCCCATGCTCAGCAGCAGCAACAGCAGCAGCCCCTGGGACAAGGACACTGCTTCACCCAGGTCTGAGACCGCAGCCCCGAGTCCTGGCCTTCCCATCCCGCGTGGTACACCACCCACAAAGACCCAGAGACCCTTCCCGGCATCTCCTATTCAGGACCCACCACCCGGACACCTGCCTTTCAGAGCCCACCCCACAGCCCAGAGGACCTGAGATGCCCCAACATTTCAGATCCCCACCCTCAGGAACTGCCCCACCTGAAGCTTACTGGGGGTCATGCCCCTCCAGAAAGAGGCCTCCTTCCACAGCTCACACGGGTCTGCCCCTTCTCATGCCAGTGATGGCCTGGAAGGAGGTGGAAGGTGCCCAGGGGCCCTGTAGTCTTACCTGGAGCATCTCCATCCTTGGTGCATCCCCTGCCTCGTGTATCTGGCTATATACCTCGGGGTTGTGGGGGCGGCAAGGCCACCAGGAGGTGATAGGATGCTGGGGTAACCTGGACACTAATCCCCCCGGGGGCGAGAGGTGCACATGGCCAGGGAGGCGCAGGAGTGGCTCAGCAGAGCGCCCCAGCCCTCTCCCCTCAGTGGTCTAGCGCCAGAGGTGAGGCAGAGACCACGGTGAAGTGACCTCAGAGACCCAGTTGTCGAGTGCTAGGGACTAGTCGAGCCTGGAGGCACAGGGAGTAGGGTGTAGGAAGGCCTGCCTCTGCCAATTGTGGGGTCTTGGGAGCCAGGAGGAGGCCATGACCCGAGAAAGGTGCTGGACTGAAGCCTCAACCCTCCACTTGAGGCTTTCCTGCACCACAGTCCAACCTAACAGGAGGGGCGCTGCTTCGGACTTAGCTTCTGCCCAGTGAGAGAGGGTCTCCCCGTGACTGTGCTGCCAGGGAAGCCACTTGACCCAGATGCCCCCAAGGAGGGATTAAGCCCGAGCCCCACCTCTCCCTTAGGGACCTCCGCCCACCCTACCCTCAAGCCAGGATGCCCGGAGCGTCCCCGGAAGTGGGTGTGGTTCAGGTGATTTAACTCATTATTTAATACGCCCGCAGGGTGCGTGTCTTGCCCCCGGGGCCACAGCCTGCAAGGACATTATCTGGACTTAGTCCCCTCTCCGTGATGCCGCAGCTGAGTGGGTGTCTGGGCTAGTCCCGCCCCCACGTTGCCAATAGACGTAATGAGTGCGACTCAGGCTGGGTCCGGAACCCTTCCTAGTGAGCGGAGGTCCCGAGCTCCGCTCGGCAGCGCGGCCCTGGGGGCGGGTCTGGGGTGGGGCTGGCCCTGACGGCTCACACCAGCGCCGGCTTCAAGCTGCCATAGCTGGAGTTCTCGGTACTGTAGGCTTTCGGCACGCTGTAGATGCCCCGCAGGGGCTTCCAGTGCGGGCCGCCCCAGGGCGCCTCCAGCGGGCAGAAGCGGTCGAGCCGCCGGAGCGGGTGCAGCAGGGGGCTGTAGGACTCCTGAGCCAGAGACAGGGCTCCCCGGTGCGGCATGGCCGAGGTCACCGGGCTGACGCGCGGCACGCGGACCCGCGGTGGTCGGGGCGGCCGGGAGGAGCGCGGACAGGGCGGCCGCTGCGGGCCGTGGCTCCAGACCTGGGGCGTCTCTTCGAAGCTCCAGTAGGTCAGGGAGTCCTTGCGGG
CTTGATCCAGTAATCCTGGAGGCAGAGATCTAGCTTAAAGCAGCCCAGCTCCGCGGAAAGGTGCCCTTGGGGGACTGACGCAGCTGTGGAAGGCTGCGTCATCAGGGGTGATGTCATCATGTGACAGGAGACGCGAGCTAAAGGTTAAGTGGTGTTGGGCCCAGTGAGTGGGTGGCGATGGGAGGTGAGAGTGTTCCCAGCAAAGGGAATGAAGAGGGAACATGCCCCTGACAGCCCCCTCTTTCTGCCTCTTCCTCAGAATCCGGGGCACCAGCTACCAGAGCCCTCACGGCATCCCCATAGACCTGCTGGACCGGCTGCTTATCGTCTCCACCACCCCCTACAGCGAGAAAGACACGAAGCAGATCCTCCGCATCCGGTGCGGGCAGGACCAGGCCGTGCGCCTGAGACGCAGGGCTGGGGTCTACCCTGTTTGACAAATGCTGACACTGAGGTCCAGCGGAGTGGCATGGTGGCTGGGCCTACAGGAGAGAGGGCTGAGCGGGCACCCAGACGGTGGCCTCCGATCCGGGAGCAGGAGCCACGGTGGGAAAGGGAGGCGAGGTACCCGTGACTGGTGTTGGGGCCAGCGCCCTGGGGGTGGTCAGGAGGCCTCGGTTTTAGGTCCAGCCCAGCCCCTGTCTCCGTGGCTCTTCTAGCCTCAGCATTCTATGGTTCTAAGATGCAGGCGCCACATATTCCCAGTGGGGAAGGGCCAGAGGGTTGCTGTGGCCACTTCTGCTGCAGTCAGAGGCTGGGCCCCGGCTGAGCCACCCCTGTCCCCCACTGCTTGCAGGTGCGAGGAAGAAGATGTGGAGATGAGTGAGGACGCCTACACGGTGCTGACCCGCATCGGGCTGGAGACGTCACTGCGCTACGCCATCCAGCTCATCACAGCTGCCAGCTTGGTGTGCCGGAAACGCAAGGTCAGCCGGCCGAATTAGCCAGCAGGGCCAGATGGCGGCAGTGAGTGACACAGTACTTCAGGGGCTTCCAGGGTTCCGATTTCATCCTAGAATGTACGTTTTCAGACGCAGGGAATTTTCATCCCTCAGGTTGGCTTCTGTATCATCCAGCCTGGCCTATAGTAGGTATCAGTAAATCTCTCTTGACTTAAGTAGATGCTGTTAGGTCCACCTTACAGATAAAGAAACTGAGGAATGAAGAGGCTGGGCCCACAACAAGGAGATGGCCAGGCAGGATTTGAACCCAGGCAATCTGGCCCAGAATGCCCTCCCCTCACATGCCACACTCTGCTGCCTAGAGCATGGAGGTGGCATACGCTGGGGTCTGTGCCTTGAGCCTCACGGAGAGGGGCCCAACTGAGGACTCGCCCTCCCCCTCCAGGGTACAGAAGTGCAGGTGGATGACATCAAGCGGGTCTACTCACTCTTCCTGGACGAGTCCCGCTCCACGCAGTACATGAAGGAGTACCAGGACGCCTTCCTCTTCAACGAACTCAGTAAGAATCCCCACCCCGCACCTGCACTGCCAGAGCCAACCTCAGAGGGAGGAAGAGGGAGCTCGGCGTAGAAGGCTCAGGCCCTGCCACCTGGGCGACACTGACCATGTGGCCTTCCTTCTCCCCACAGAAGGCGAGACCATGGACACCTCCTGAGTTGGATGTCATCCCCCGACCCCACCCTGTTTTCCACCAGAGTTCTGACACTGTGACTCTGTATAAAATGGTTGGGAAGCTGCACCCACCCTGTGTATGTGTGGTTGCCCTGAGCCCACAGAAAGACACCTCCAGAGTGCGGATTGAGAAGCCTTTATTGTGGGAGGATCGGGGTGTCAGGGCTCCAGGAGTCGGGATGGACTTGGAAGGCTGCGGGGAGGGTCTTTAGAGGAAGAGGAGGCCTGAGAGTTGGGGGTGGTCACAGGTCAAGGGGTGGTCTTTGGGACCCCCACAGTCAGAGGTGCTGCGGCGGCAGGGTCCACAGCGACAGCTGAGAGCCACAGGGAAGGAGACCACGGGGTCCACACCACGCGGGCAGCCAGGGAGCCGGATGGACTCGAAGCGCACATCACGGTAGGTGCACACCACCCGAGGCAGGGGCGGCAGGACCGCCTGCAGCACGCGCATCTGGAGGCCGTGTGAGTGGGGGAATGAGCATGTGCCTGAGGCCAGCGCCTCAGCTGAGCTCCCAAGCTGACCCCACAGGTCCTGGACTCAGGAGCCCAGGAAGCCCTCTGTTCCTGCCTTCCCACACCCCATTCCCCAACCGCAGGCCAGAGAGGCAGACCACCCTTCCTCCCCCGCTGCCTCTGTGGGTCTGGCCCTGAGGTGGCAGCATCTGCCCCTGGCCCCAGGCAGCTCACCATGGTGGGGCAGTAGCCGGCACAGATGGTGGTGTTGACGGTGATGCACACTGGGCAGCCCTCCTTCTCGACAGCCAGGATGGCATTGATGGGGTGGCACCATGGCCGAAGCGGCTCCCTGGATGCCCATGCCCCGCCCATGCTCAGCAGCAGCAACAGCAGCAGCCCCTGGGACAAGGACACTGCTTCACCCAGGTCTGAGACCGCAGCCCCGAGTCCTGGCCTTCCCATCCCGCGTGGTACACCACCCACAAAGACCCAGAGACCCTTCCCGGCATCTCCTATTCAGGACCCACCACCCGGACACCTGCCTTTCAGAGCCCACCCCACAGCCCAGAGGACCTGAGATGCCCCAACATTTCAGATCCCCACCCTCAGGAACTGCCCCACCTGAAGCTTACTGGGGGTCATGCCCCTCCAGAAAGAGGCCTCCTTCCACAGCTCACACGGGTCTGCCCCTTCTCATGCCAGTGATGGCCTGGAAGGAGGTGGAAGGTGCCCAGGGGCCCTGTAGTCTTACCTGGAGCATCTCCATCCTTGGTGCATCCCCTGCCTCGTGTATCTGGCTATATACCTCGGGGTTGTGGGGGCGGCAAGGCCACCAGGAGGTGATAGGATGCTGGGGTAACCTGGACACTAATCCCCCCGGGGGCGAGAGGTGCACATGGCCAGGGAGGCGCAGGAGTGGCTCAGCAGAGCGCCCCAGCCCTCTCCCCTCAGTGGTCTAGCGCCAGAGGTGAGGCAGAGACCACGGTGAAGTGACCTCAGAGACCCAGTTGTCGAGTGCTAGGGACTAGTCGAGCCTGGAGGCACAGGGAGTAGGGTGTAGGAAGGCCTGCCTCTGCCAATTGTGGGGTCTTGGGAGCCAGGAGGAGGCCATGACCCGAGAAAGGTGCTGGACTGAAGCCTCAACCCTCCACTTGAGGCTTTCCTGCACCACAGTCCAACCTAACAGGAGGGGCGCTGCTTCGGACTTAGCTTCTGCCCAGTGAGAGAGGGTCTCCCCGTGACTGTGCTGCCAGGGAAGCCACTTGACCCAGATGCCCCCAAGGAGGGATTAAGCCCGAGCCCCACCTCTCCCTTAGGGACCTCCGCCCACCCTACCCTCAAGCCAGGATGCCCGGAGCGTCCCCGGAAGTGGGTGTGGTTCAGGTGATTTAACTCATTATTTAATACGCCCGCAGGGTGCGTGTCTTGCCCCCGGGGCCACAGCCTGCAAGGACATTATCTGGACTTAGTCCCCTCTCCGTGATGCCGCAGCTGAGTGGGTGTCTGGGCTAGTCCCGCCCCCACGTTGCCAATAGACGTAATGAGTGCGACTCAGGCTGGGTCCGGAACCCTTCCTAGTGAGCGGAGGTCCCGAGCTCCGCTCGGCAGCGCGGCCCTGGGGGCGGGTCTGGGGTGGGGCTGGCCCTGACGGCTCACACCAGCGCCGGCTTCAAGCTGCCATAGCTGGAGTTCTCGGTACTGTAGGCTTTCGGCACGCTGTAGATGCCCCGCAGGGGCTTCCAGTGCGGGCCGCCCCAGGGCGCCTCCAGCGGGCAGAAGCGGTCGAGCCGCCGGAGCGGGTGCAGCAGGGGGCTGTAGGACTCCTGAGCCAGAGACAGGGCTCCCCGGTGCGGCATGGCCGAGGTCACCGGGCTGACGCGCGGCACGCGGACCCGCGGTGGTCGGGGCGGCCGGGAGGAGCGCGGACAGGGCGGCCGCTGCGGGCCGTGGCTCCAGACCTGGGGCGTCTCTTCGAAGCTCCAGTAGGTCAGGGAGTCCTTGCGGG
Task1_train_27454
This mutation is located in gene LHB (luteinizing hormone subunit beta) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Isolated lutropin deficiency
GGCATCCCCATAGACCTGCTGGACCGGCTGCTTATCGTCTCCACCACCCCCTACAGCGAGAAAGACACGAAGCAGATCCTCCGCATCCGGTGCGGGCAGGACCAGGCCGTGCGCCTGAGACGCAGGGCTGGGGTCTACCCTGTTTGACAAATGCTGACACTGAGGTCCAGCGGAGTGGCATGGTGGCTGGGCCTACAGGAGAGAGGGCTGAGCGGGCACCCAGACGGTGGCCTCCGATCCGGGAGCAGGAGCCACGGTGGGAAAGGGAGGCGAGGTACCCGTGACTGGTGTTGGGGCCAGCGCCCTGGGGGTGGTCAGGAGGCCTCGGTTTTAGGTCCAGCCCAGCCCCTGTCTCCGTGGCTCTTCTAGCCTCAGCATTCTATGGTTCTAAGATGCAGGCGCCACATATTCCCAGTGGGGAAGGGCCAGAGGGTTGCTGTGGCCACTTCTGCTGCAGTCAGAGGCTGGGCCCCGGCTGAGCCACCCCTGTCCCCCACTGCTTGCAGGTGCGAGGAAGAAGATGTGGAGATGAGTGAGGACGCCTACACGGTGCTGACCCGCATCGGGCTGGAGACGTCACTGCGCTACGCCATCCAGCTCATCACAGCTGCCAGCTTGGTGTGCCGGAAACGCAAGGTCAGCCGGCCGAATTAGCCAGCAGGGCCAGATGGCGGCAGTGAGTGACACAGTACTTCAGGGGCTTCCAGGGTTCCGATTTCATCCTAGAATGTACGTTTTCAGACGCAGGGAATTTTCATCCCTCAGGTTGGCTTCTGTATCATCCAGCCTGGCCTATAGTAGGTATCAGTAAATCTCTCTTGACTTAAGTAGATGCTGTTAGGTCCACCTTACAGATAAAGAAACTGAGGAATGAAGAGGCTGGGCCCACAACAAGGAGATGGCCAGGCAGGATTTGAACCCAGGCAATCTGGCCCAGAATGCCCTCCCCTCACATGCCACACTCTGCTGCCTAGAGCATGGAGGTGGCATACGCTGGGGTCTGTGCCTTGAGCCTCACGGAGAGGGGCCCAACTGAGGACTCGCCCTCCCCCTCCAGGGTACAGAAGTGCAGGTGGATGACATCAAGCGGGTCTACTCACTCTTCCTGGACGAGTCCCGCTCCACGCAGTACATGAAGGAGTACCAGGACGCCTTCCTCTTCAACGAACTCAGTAAGAATCCCCACCCCGCACCTGCACTGCCAGAGCCAACCTCAGAGGGAGGAAGAGGGAGCTCGGCGTAGAAGGCTCAGGCCCTGCCACCTGGGCGACACTGACCATGTGGCCTTCCTTCTCCCCACAGAAGGCGAGACCATGGACACCTCCTGAGTTGGATGTCATCCCCCGACCCCACCCTGTTTTCCACCAGAGTTCTGACACTGTGACTCTGTATAAAATGGTTGGGAAGCTGCACCCACCCTGTGTATGTGTGGTTGCCCTGAGCCCACAGAAAGACACCTCCAGAGTGCGGATTGAGAAGCCTTTATTGTGGGAGGATCGGGGTGTCAGGGCTCCAGGAGTCGGGATGGACTTGGAAGGCTGCGGGGAGGGTCTTTAGAGGAAGAGGAGGCCTGAGAGTTGGGGGTGGTCACAGGTCAAGGGGTGGTCTTTGGGACCCCCACAGTCAGAGGTGCTGCGGCGGCAGGGTCCACAGCGACAGCTGAGAGCCACAGGGAAGGAGACCACGGGGTCCACACCACGCGGGCAGCCAGGGAGCCGGATGGACTCGAAGCGCACATCACGGTAGGTGCACACCACCTGAGGCAGGGGCGGCAGGACCGCCTGCAGCACGCGCATCTGGAGGCCGTGTGAGTGGGGGAATGAGCATGTGCCTGAGGCCAGCGCCTCAGCTGAGCTCCCAAGCTGACCCCACAGGTCCTGGACTCAGGAGCCCAGGAAGCCCTCTGTTCCTGCCTTCCCACACCCCATTCCCCAACCGCAGGCCAGAGAGGCAGACCACCCTTCCTCCCCCGCTGCCTCTGTGGGTCTGGCCCTGAGGTGGCAGCATCTGCCCCTGGCCCCAGGCAGCTCACCATGGTGGGGCAGTAGCCGGCACAGATGGTGGTGTTGACGGTGATGCACACTGGGCAGCCCTCCTTCTCGACAGCCAGGATGGCATTGATGGGGTGGCACCATGGCCGAAGCGGCTCCCTGGATGCCCATGCCCCGCCCATGCTCAGCAGCAGCAACAGCAGCAGCCCCTGGGACAAGGACACTGCTTCACCCAGGTCTGAGACCGCAGCCCCGAGTCCTGGCCTTCCCATCCCGCGTGGTACACCACCCACAAAGACCCAGAGACCCTTCCCGGCATCTCCTATTCAGGACCCACCACCCGGACACCTGCCTTTCAGAGCCCACCCCACAGCCCAGAGGACCTGAGATGCCCCAACATTTCAGATCCCCACCCTCAGGAACTGCCCCACCTGAAGCTTACTGGGGGTCATGCCCCTCCAGAAAGAGGCCTCCTTCCACAGCTCACACGGGTCTGCCCCTTCTCATGCCAGTGATGGCCTGGAAGGAGGTGGAAGGTGCCCAGGGGCCCTGTAGTCTTACCTGGAGCATCTCCATCCTTGGTGCATCCCCTGCCTCGTGTATCTGGCTATATACCTCGGGGTTGTGGGGGCGGCAAGGCCACCAGGAGGTGATAGGATGCTGGGGTAACCTGGACACTAATCCCCCCGGGGGCGAGAGGTGCACATGGCCAGGGAGGCGCAGGAGTGGCTCAGCAGAGCGCCCCAGCCCTCTCCCCTCAGTGGTCTAGCGCCAGAGGTGAGGCAGAGACCACGGTGAAGTGACCTCAGAGACCCAGTTGTCGAGTGCTAGGGACTAGTCGAGCCTGGAGGCACAGGGAGTAGGGTGTAGGAAGGCCTGCCTCTGCCAATTGTGGGGTCTTGGGAGCCAGGAGGAGGCCATGACCCGAGAAAGGTGCTGGACTGAAGCCTCAACCCTCCACTTGAGGCTTTCCTGCACCACAGTCCAACCTAACAGGAGGGGCGCTGCTTCGGACTTAGCTTCTGCCCAGTGAGAGAGGGTCTCCCCGTGACTGTGCTGCCAGGGAAGCCACTTGACCCAGATGCCCCCAAGGAGGGATTAAGCCCGAGCCCCACCTCTCCCTTAGGGACCTCCGCCCACCCTACCCTCAAGCCAGGATGCCCGGAGCGTCCCCGGAAGTGGGTGTGGTTCAGGTGATTTAACTCATTATTTAATACGCCCGCAGGGTGCGTGTCTTGCCCCCGGGGCCACAGCCTGCAAGGACATTATCTGGACTTAGTCCCCTCTCCGTGATGCCGCAGCTGAGTGGGTGTCTGGGCTAGTCCCGCCCCCACGTTGCCAATAGACGTAATGAGTGCGACTCAGGCTGGGTCCGGAACCCTTCCTAGTGAGCGGAGGTCCCGAGCTCCGCTCGGCAGCGCGGCCCTGGGGGCGGGTCTGGGGTGGGGCTGGCCCTGACGGCTCACACCAGCGCCGGCTTCAAGCTGCCATAGCTGGAGTTCTCGGTACTGTAGGCTTTCGGCACGCTGTAGATGCCCCGCAGGGGCTTCCAGTGCGGGCCGCCCCAGGGCGCCTCCAGCGGGCAGAAGCGGTCGAGCCGCCGGAGCGGGTGCAGCAGGGGGCTGTAGGACTCCTGAGCCAGAGACAGGGCTCCCCGGTGCGGCATGGCCGAGGTCACCGGGCTGACGCGCGGCACGCGGACCCGCGGTGGTCGGGGCGGCCGGGAGGAGCGCGGACAGGGCGGCCGCTGCGGGCCGTGGCTCCAGACCTGGGGCGTCTCTTCGAAGCTCCAGTAGGTCAGGGAGTCCTTGCGGGGGTATCCGGACAGCTCCGTCCTGTGGGAGCAGGGCGGGATGGTGAGGATACAGCTGGATCCTTGGGGACGAGTTTCAGACCTCGGGATCTAAGGAGTCTGCACATTCAAACTCCTGCATTTCCAGGCGAGCACCCCTTAGGAAGGACGCGACCCGGCACGCGTTGCCTGCGTTCCTGGGTCCTCGAGGTACTTAACGTCCTGGAAACTGAGCTTTCGCATCCTAGGGAAGTAAAAGGGGACTTTCGCTTCCTTGGGAAGGAGTATCTGGGGGCTCAAGTACCGAAGGAGG
GGCATCCCCATAGACCTGCTGGACCGGCTGCTTATCGTCTCCACCACCCCCTACAGCGAGAAAGACACGAAGCAGATCCTCCGCATCCGGTGCGGGCAGGACCAGGCCGTGCGCCTGAGACGCAGGGCTGGGGTCTACCCTGTTTGACAAATGCTGACACTGAGGTCCAGCGGAGTGGCATGGTGGCTGGGCCTACAGGAGAGAGGGCTGAGCGGGCACCCAGACGGTGGCCTCCGATCCGGGAGCAGGAGCCACGGTGGGAAAGGGAGGCGAGGTACCCGTGACTGGTGTTGGGGCCAGCGCCCTGGGGGTGGTCAGGAGGCCTCGGTTTTAGGTCCAGCCCAGCCCCTGTCTCCGTGGCTCTTCTAGCCTCAGCATTCTATGGTTCTAAGATGCAGGCGCCACATATTCCCAGTGGGGAAGGGCCAGAGGGTTGCTGTGGCCACTTCTGCTGCAGTCAGAGGCTGGGCCCCGGCTGAGCCACCCCTGTCCCCCACTGCTTGCAGGTGCGAGGAAGAAGATGTGGAGATGAGTGAGGACGCCTACACGGTGCTGACCCGCATCGGGCTGGAGACGTCACTGCGCTACGCCATCCAGCTCATCACAGCTGCCAGCTTGGTGTGCCGGAAACGCAAGGTCAGCCGGCCGAATTAGCCAGCAGGGCCAGATGGCGGCAGTGAGTGACACAGTACTTCAGGGGCTTCCAGGGTTCCGATTTCATCCTAGAATGTACGTTTTCAGACGCAGGGAATTTTCATCCCTCAGGTTGGCTTCTGTATCATCCAGCCTGGCCTATAGTAGGTATCAGTAAATCTCTCTTGACTTAAGTAGATGCTGTTAGGTCCACCTTACAGATAAAGAAACTGAGGAATGAAGAGGCTGGGCCCACAACAAGGAGATGGCCAGGCAGGATTTGAACCCAGGCAATCTGGCCCAGAATGCCCTCCCCTCACATGCCACACTCTGCTGCCTAGAGCATGGAGGTGGCATACGCTGGGGTCTGTGCCTTGAGCCTCACGGAGAGGGGCCCAACTGAGGACTCGCCCTCCCCCTCCAGGGTACAGAAGTGCAGGTGGATGACATCAAGCGGGTCTACTCACTCTTCCTGGACGAGTCCCGCTCCACGCAGTACATGAAGGAGTACCAGGACGCCTTCCTCTTCAACGAACTCAGTAAGAATCCCCACCCCGCACCTGCACTGCCAGAGCCAACCTCAGAGGGAGGAAGAGGGAGCTCGGCGTAGAAGGCTCAGGCCCTGCCACCTGGGCGACACTGACCATGTGGCCTTCCTTCTCCCCACAGAAGGCGAGACCATGGACACCTCCTGAGTTGGATGTCATCCCCCGACCCCACCCTGTTTTCCACCAGAGTTCTGACACTGTGACTCTGTATAAAATGGTTGGGAAGCTGCACCCACCCTGTGTATGTGTGGTTGCCCTGAGCCCACAGAAAGACACCTCCAGAGTGCGGATTGAGAAGCCTTTATTGTGGGAGGATCGGGGTGTCAGGGCTCCAGGAGTCGGGATGGACTTGGAAGGCTGCGGGGAGGGTCTTTAGAGGAAGAGGAGGCCTGAGAGTTGGGGGTGGTCACAGGTCAAGGGGTGGTCTTTGGGACCCCCACAGTCAGAGGTGCTGCGGCGGCAGGGTCCACAGCGACAGCTGAGAGCCACAGGGAAGGAGACCACGGGGTCCACACCACGCGGGCAGCCAGGGAGCCGGATGGACTCGAAGCGCACATCACGGTAGGTGCACACCACCTGAGGCAGGGGCGGCAGGACCGCCTGCAGCACGCGCATCTGGAGGCCGTGTGAGTGGGGGAATGAGCATGTGCCTGAGGCCAGCGCCTCAGCTGAGCTCCCAAGCTGACCCCACAGGTCCTGGACTCAGGAGCCCAGGAAGCCCTCTGTTCCTGCCTTCCCACACCCCATTCCCCAACCGCAGGCCAGAGAGGCAGACCACCCTTCCTCCCCCGCTGCCTCTGTGGGTCTGGCCCTGAGGTGGCAGCATCTGCCCCTGGCCCCAGGCAGCTCACCATGGTGGGGCAGTAGTCGGCACAGATGGTGGTGTTGACGGTGATGCACACTGGGCAGCCCTCCTTCTCGACAGCCAGGATGGCATTGATGGGGTGGCACCATGGCCGAAGCGGCTCCCTGGATGCCCATGCCCCGCCCATGCTCAGCAGCAGCAACAGCAGCAGCCCCTGGGACAAGGACACTGCTTCACCCAGGTCTGAGACCGCAGCCCCGAGTCCTGGCCTTCCCATCCCGCGTGGTACACCACCCACAAAGACCCAGAGACCCTTCCCGGCATCTCCTATTCAGGACCCACCACCCGGACACCTGCCTTTCAGAGCCCACCCCACAGCCCAGAGGACCTGAGATGCCCCAACATTTCAGATCCCCACCCTCAGGAACTGCCCCACCTGAAGCTTACTGGGGGTCATGCCCCTCCAGAAAGAGGCCTCCTTCCACAGCTCACACGGGTCTGCCCCTTCTCATGCCAGTGATGGCCTGGAAGGAGGTGGAAGGTGCCCAGGGGCCCTGTAGTCTTACCTGGAGCATCTCCATCCTTGGTGCATCCCCTGCCTCGTGTATCTGGCTATATACCTCGGGGTTGTGGGGGCGGCAAGGCCACCAGGAGGTGATAGGATGCTGGGGTAACCTGGACACTAATCCCCCCGGGGGCGAGAGGTGCACATGGCCAGGGAGGCGCAGGAGTGGCTCAGCAGAGCGCCCCAGCCCTCTCCCCTCAGTGGTCTAGCGCCAGAGGTGAGGCAGAGACCACGGTGAAGTGACCTCAGAGACCCAGTTGTCGAGTGCTAGGGACTAGTCGAGCCTGGAGGCACAGGGAGTAGGGTGTAGGAAGGCCTGCCTCTGCCAATTGTGGGGTCTTGGGAGCCAGGAGGAGGCCATGACCCGAGAAAGGTGCTGGACTGAAGCCTCAACCCTCCACTTGAGGCTTTCCTGCACCACAGTCCAACCTAACAGGAGGGGCGCTGCTTCGGACTTAGCTTCTGCCCAGTGAGAGAGGGTCTCCCCGTGACTGTGCTGCCAGGGAAGCCACTTGACCCAGATGCCCCCAAGGAGGGATTAAGCCCGAGCCCCACCTCTCCCTTAGGGACCTCCGCCCACCCTACCCTCAAGCCAGGATGCCCGGAGCGTCCCCGGAAGTGGGTGTGGTTCAGGTGATTTAACTCATTATTTAATACGCCCGCAGGGTGCGTGTCTTGCCCCCGGGGCCACAGCCTGCAAGGACATTATCTGGACTTAGTCCCCTCTCCGTGATGCCGCAGCTGAGTGGGTGTCTGGGCTAGTCCCGCCCCCACGTTGCCAATAGACGTAATGAGTGCGACTCAGGCTGGGTCCGGAACCCTTCCTAGTGAGCGGAGGTCCCGAGCTCCGCTCGGCAGCGCGGCCCTGGGGGCGGGTCTGGGGTGGGGCTGGCCCTGACGGCTCACACCAGCGCCGGCTTCAAGCTGCCATAGCTGGAGTTCTCGGTACTGTAGGCTTTCGGCACGCTGTAGATGCCCCGCAGGGGCTTCCAGTGCGGGCCGCCCCAGGGCGCCTCCAGCGGGCAGAAGCGGTCGAGCCGCCGGAGCGGGTGCAGCAGGGGGCTGTAGGACTCCTGAGCCAGAGACAGGGCTCCCCGGTGCGGCATGGCCGAGGTCACCGGGCTGACGCGCGGCACGCGGACCCGCGGTGGTCGGGGCGGCCGGGAGGAGCGCGGACAGGGCGGCCGCTGCGGGCCGTGGCTCCAGACCTGGGGCGTCTCTTCGAAGCTCCAGTAGGTCAGGGAGTCCTTGCGGGGGTATCCGGACAGCTCCGTCCTGTGGGAGCAGGGCGGGATGGTGAGGATACAGCTGGATCCTTGGGGACGAGTTTCAGACCTCGGGATCTAAGGAGTCTGCACATTCAAACTCCTGCATTTCCAGGCGAGCACCCCTTAGGAAGGACGCGACCCGGCACGCGTTGCCTGCGTTCCTGGGTCCTCGAGGTACTTAACGTCCTGGAAACTGAGCTTTCGCATCCTAGGGAAGTAAAAGGGGACTTTCGCTTCCTTGGGAAGGAGTATCTGGGGGCTCAAGTACCGAAGGAGG
Task1_train_27455
This mutation occurs in NTF4 (neurotrophin 4) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Glaucoma 1, open angle, O
GAAAGGGATCTAGAGAGAAGTGCACCGGACCATAGCGAAAAAGATGGGCTTTGATGAGTGAGGAATAAATACAACAAGAAAGGGGAGAGACAGGGAGGAAGAAAGAGACCACGATGGAAAGGGAGCTATTAGTACTACCCAGAGGCGACAGACACTGGAAGTTAGAGACAGAGATGAAGGTGGCAAAAACGACCAAAGTCACAGATGGAAAACAAGGAGACGTAGAAACTGAGGCAGCCACGCCCCACCCTGCCCAGGGGCCTGGTCTGTATAGATGCGGGGAGAAGTTGCCTATGTCCTTTGCTCAAAGCTGGACCTGAGAGAGAGAGAGAGAGTTGGTGGGGCGATGGGTAACATGTGAAGGGCTATTGTGAAGGCCTGTGGTCTGTCCCTGGCTTCCCTTGTCACTTCTTCACTATAAACAGCTTTTGATCACCGGGCGCAGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCGAGGCATGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGCGAAACCCTGTCTCTACCAAAAAATACAAAAAGTAGCCGGGCGTGGTGGCGCACACCTGTAATCCCAACTAAGGCAGAAGAATCACTTCAACCCGGGAGGTGAAGGCTGCAGTGAGCTCAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTTTTGGTCAAGGCCTCTGACTGCTCAACCCCCATTATCTCATCCTACCAGCCCATTCTGCAGACAAGGAAAACTGAGGCTACTTTCTGCAGCCATGCCCAGGATCCCACTTACCCCTCCTCCCCCATTCAGGCTTCTGGGGCCTTTCTGTTGGATTTTGCTGGCCCTACTCAACAGCTCTCAATGGACAGTGACCCCCTGATCCTAGCCAGGGGGCCGATGAGTTAGTCAGAAACTCATGCCCCACTCAAGCTGGACAAAATTTTTTTCTTTTTTTTGAAATGGAGTTTCGCTCTTTTTGCCAAGGCTGGAGTGCAATGGTACAGTCTTGGCTTACTGCAACCTCTGCCTCCTGAGTTCAAGCAATTCTCCTACCTCACCCTTCAGAGTAGCTTGGATTACAGGCATCCGCCACCACGACCAGCTAATTTCTTTATATAATTTTAGTAGAGTCGGGTTTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATTCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAATGAGCCATCGCACCTGGCCATCAAGCTGGAAAATTTTAAGGTCTGTTTCTTTCCCAATGTAGAGTAAAGGTTGGGACAGGGAAGAGGGCTAGAAACCTGACTTCAGCTCCCTGCCGAGGGCTGAACTCTCCAGCATCCTGATCACTTCTCATTCAACCTTGCTTGTACTCCTCTGTGATCGGTAGCTTATTACCTCAAAACAGAATATTCTAAGTCAACCTTTGCCCCCTCTTACCAAGTAAGATTTCCCATTTGAACCCCATCTCCCAGATACTTAAAGGCCTTCTGTGGGCCACGTTCTCAAGGTCCCCTGGCCATCTGCTTGCCTGTTCTAGTTTCTCTCCTCCTCCACCCACATCGTGAAATGTCCCCTCCCACTCCCCAGCAAGGTGGTGTCCTCTGAGACTGAGTAGTCAGCAACTTAACACCAAGGGCCACCAATGATCAAATCCATGAGAGTTGATCTGAGGAGTTATGTATTAGGGATAAGAAACAGTAAACACTCAGTAAATAGTGGCTATTATTATTATATCATCATCATTATTACCCTCAAGTTGCTCCAGGAGAACTCCTATTCAACCTCCAAAACCCCATGTGGTTTCACCCATCCTGCAGAGATTGAGCTCAAAATCAGAGAATTGTGATTTTGTGATTATTTGATGAGTTCCCAAACTGGGGTCCTTAGATCAGCTGGGCCATCCCTGAGGTCTCTCAGCATCCAGCTCTGTTATTTTCCTGGGCATGGGTCTCAGGCCCGGCCAGTCCGGCTGAGGAGTGTGCAGACGCAGGCAGTGTCAATTCGAATCCATCGCCAGCCCACACGGCCCTGGGCATCAGCGGTCAATGCCCGCACATAGGACTGCTTGGCCTTGCACTCAGATACCCAGTGCCTCCTGTCCACTCCCCGGCAGCCCCCTCCACCTGCCCCCGGGCCACCTTCCTCAGCGTTATCAGCCTTGCAGCGGGTTTCAAAGAAGTACTGGCGGAGGGGACTGCCGCCAGCTGCAGGCACCTCGCCCAACACCTCCACCTCGCGCCCACGCAAGTCCACAGCGGTCCGGCGGTCTGTCACCCAGCCACTGACTGCATCGCACACAGCCAGCTCACCCCGACGACTCGCTGGTGCAGTTTCGCTCACCCCACGCCGGCTGCGGTTGGCCGGGGCACCTGCTGACTCCCGAAAGGCCCCAGCCTCCAGCAGGAAGAGCAGAGGGGGCCCAGCAGGGGCACCCCTAGACAGGACTACTCGGGGGGAGAGAAGGTCCCACTCAGGGGCCAGAAAAGGGGGCAATGTTGAGGGTGGGGGTTGGGACTCAATTGGCACACTGGGGAGGAGGAAAAGGAGGAGGATGGGGAGGGAGCATGAGGGGAGAGGGAGCATCTCTCGGAGCACCTGGAGACAGAAAGAGGGAGGCTGGGATTAGAGAAGGGGGTAAAAACTTCAGTGGGGAAAGAAGTTGGGAACCCCAGGGGAGGCTTGCCTGCCAGGATTGTGGGGAAGCCCTTGTTCTAGAAGTTTGGGGGACCCTATATCTAGGGCTTGCGTAATGCGCAACTTGTAGATTAATAATAAATATTCAACTACTACAGGCCAGGCACTGTGCCCCACACCTCTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATGACTTGAGGTCAGGAGTTCCAGAGCAGCCTGGCCAACATGGTGAAACCTCATCTCTACCAAAAATACCAAAATTAACCGGGCATAGTGCTGCACGCCTGTAATCCCAGCTACTCAGTAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCCGAGGTTGCAGTGAGCAGAGAGTGCACCACTCCCCTGCCACCTGGGCGACAAGAGTGAGACTCTGTCTCAAAAGTAAAAATAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGATGGGCGGCTCACCTGAGGTGAGGAGTTCCAGACCAGCTTGGTCAACATGGTGAAACCCCTTCTCTACTAAAAATACAGAATTACCCGGGTGTGGTGGCGCATGTCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAGGGCAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGGGCTGAGATTGAACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTTAAAAAACAATAATAATAATAAAATAAAAATAAAAATAATTCAACTACTATTACTTAACAGTAACAGATGTTGAAATACAGGCTCAGAGAAGTTAATGATTTGTGCCCGGTCACACAGCCAGCAAATGGCAGAGATGGGACTTCACCTCTGGGCAACTGCACTCTGCCGTCCTTCCTGTGCAACTCTGAGGAACCGACAGTCTTGCATCTTGGAGGATGTTCCAAACAATTTTTTTTTTTTGAGACAGAATCTCACTCTGTTGGCCAGGCTGGAGTACAGTGGCACAATCCTGGCTCACTGCAATGTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGGTGGGATTACAAGCACCTGCCACTGTGCCCAGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTTGAACTCCCAACCTCAAGCAATAGTCGTGTCCTGGCCTCCCAAAGTGCTGGGATTACAAGCATAAGCCACCATGCCTGGTCCCAAACAAAATTTTTTTTTTTTTTTTTTTGAGATGGAATCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCCGCCTCCCAAGTTCATGGCATTCTCC
GAAAGGGATCTAGAGAGAAGTGCACCGGACCATAGCGAAAAAGATGGGCTTTGATGAGTGAGGAATAAATACAACAAGAAAGGGGAGAGACAGGGAGGAAGAAAGAGACCACGATGGAAAGGGAGCTATTAGTACTACCCAGAGGCGACAGACACTGGAAGTTAGAGACAGAGATGAAGGTGGCAAAAACGACCAAAGTCACAGATGGAAAACAAGGAGACGTAGAAACTGAGGCAGCCACGCCCCACCCTGCCCAGGGGCCTGGTCTGTATAGATGCGGGGAGAAGTTGCCTATGTCCTTTGCTCAAAGCTGGACCTGAGAGAGAGAGAGAGAGTTGGTGGGGCGATGGGTAACATGTGAAGGGCTATTGTGAAGGCCTGTGGTCTGTCCCTGGCTTCCCTTGTCACTTCTTCACTATAAACAGCTTTTGATCACCGGGCGCAGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCGAGGCATGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGCGAAACCCTGTCTCTACCAAAAAATACAAAAAGTAGCCGGGCGTGGTGGCGCACACCTGTAATCCCAACTAAGGCAGAAGAATCACTTCAACCCGGGAGGTGAAGGCTGCAGTGAGCTCAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTTTTGGTCAAGGCCTCTGACTGCTCAACCCCCATTATCTCATCCTACCAGCCCATTCTGCAGACAAGGAAAACTGAGGCTACTTTCTGCAGCCATGCCCAGGATCCCACTTACCCCTCCTCCCCCATTCAGGCTTCTGGGGCCTTTCTGTTGGATTTTGCTGGCCCTACTCAACAGCTCTCAATGGACAGTGACCCCCTGATCCTAGCCAGGGGGCCGATGAGTTAGTCAGAAACTCATGCCCCACTCAAGCTGGACAAAATTTTTTTCTTTTTTTTGAAATGGAGTTTCGCTCTTTTTGCCAAGGCTGGAGTGCAATGGTACAGTCTTGGCTTACTGCAACCTCTGCCTCCTGAGTTCAAGCAATTCTCCTACCTCACCCTTCAGAGTAGCTTGGATTACAGGCATCCGCCACCACGACCAGCTAATTTCTTTATATAATTTTAGTAGAGTCGGGTTTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATTCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAATGAGCCATCGCACCTGGCCATCAAGCTGGAAAATTTTAAGGTCTGTTTCTTTCCCAATGTAGAGTAAAGGTTGGGACAGGGAAGAGGGCTAGAAACCTGACTTCAGCTCCCTGCCGAGGGCTGAACTCTCCAGCATCCTGATCACTTCTCATTCAACCTTGCTTGTACTCCTCTGTGATCGGTAGCTTATTACCTCAAAACAGAATATTCTAAGTCAACCTTTGCCCCCTCTTACCAAGTAAGATTTCCCATTTGAACCCCATCTCCCAGATACTTAAAGGCCTTCTGTGGGCCACGTTCTCAAGGTCCCCTGGCCATCTGCTTGCCTGTTCTAGTTTCTCTCCTCCTCCACCCACATCGTGAAATGTCCCCTCCCACTCCCCAGCAAGGTGGTGTCCTCTGAGACTGAGTAGTCAGCAACTTAACACCAAGGGCCACCAATGATCAAATCCATGAGAGTTGATCTGAGGAGTTATGTATTAGGGATAAGAAACAGTAAACACTCAGTAAATAGTGGCTATTATTATTATATCATCATCATTATTACCCTCAAGTTGCTCCAGGAGAACTCCTATTCAACCTCCAAAACCCCATGTGGTTTCACCCATCCTGCAGAGATTGAGCTCAAAATCAGAGAATTGTGATTTTGTGATTATTTGATGAGTTCCCAAACTGGGGTCCTTAGATCAGCTGGGCCATCCCTGAGGTCTCTCAGCATCCAGCTCTGTTATTTTCCTGGGCATGGGTCTCAGGCCCGGCCAGTCTGGCTGAGGAGTGTGCAGACGCAGGCAGTGTCAATTCGAATCCATCGCCAGCCCACACGGCCCTGGGCATCAGCGGTCAATGCCCGCACATAGGACTGCTTGGCCTTGCACTCAGATACCCAGTGCCTCCTGTCCACTCCCCGGCAGCCCCCTCCACCTGCCCCCGGGCCACCTTCCTCAGCGTTATCAGCCTTGCAGCGGGTTTCAAAGAAGTACTGGCGGAGGGGACTGCCGCCAGCTGCAGGCACCTCGCCCAACACCTCCACCTCGCGCCCACGCAAGTCCACAGCGGTCCGGCGGTCTGTCACCCAGCCACTGACTGCATCGCACACAGCCAGCTCACCCCGACGACTCGCTGGTGCAGTTTCGCTCACCCCACGCCGGCTGCGGTTGGCCGGGGCACCTGCTGACTCCCGAAAGGCCCCAGCCTCCAGCAGGAAGAGCAGAGGGGGCCCAGCAGGGGCACCCCTAGACAGGACTACTCGGGGGGAGAGAAGGTCCCACTCAGGGGCCAGAAAAGGGGGCAATGTTGAGGGTGGGGGTTGGGACTCAATTGGCACACTGGGGAGGAGGAAAAGGAGGAGGATGGGGAGGGAGCATGAGGGGAGAGGGAGCATCTCTCGGAGCACCTGGAGACAGAAAGAGGGAGGCTGGGATTAGAGAAGGGGGTAAAAACTTCAGTGGGGAAAGAAGTTGGGAACCCCAGGGGAGGCTTGCCTGCCAGGATTGTGGGGAAGCCCTTGTTCTAGAAGTTTGGGGGACCCTATATCTAGGGCTTGCGTAATGCGCAACTTGTAGATTAATAATAAATATTCAACTACTACAGGCCAGGCACTGTGCCCCACACCTCTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATGACTTGAGGTCAGGAGTTCCAGAGCAGCCTGGCCAACATGGTGAAACCTCATCTCTACCAAAAATACCAAAATTAACCGGGCATAGTGCTGCACGCCTGTAATCCCAGCTACTCAGTAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCCGAGGTTGCAGTGAGCAGAGAGTGCACCACTCCCCTGCCACCTGGGCGACAAGAGTGAGACTCTGTCTCAAAAGTAAAAATAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCGGCACTTTGGGAGGCCGAGATGGGCGGCTCACCTGAGGTGAGGAGTTCCAGACCAGCTTGGTCAACATGGTGAAACCCCTTCTCTACTAAAAATACAGAATTACCCGGGTGTGGTGGCGCATGTCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAGGGCAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGGGCTGAGATTGAACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTTAAAAAACAATAATAATAATAAAATAAAAATAAAAATAATTCAACTACTATTACTTAACAGTAACAGATGTTGAAATACAGGCTCAGAGAAGTTAATGATTTGTGCCCGGTCACACAGCCAGCAAATGGCAGAGATGGGACTTCACCTCTGGGCAACTGCACTCTGCCGTCCTTCCTGTGCAACTCTGAGGAACCGACAGTCTTGCATCTTGGAGGATGTTCCAAACAATTTTTTTTTTTTGAGACAGAATCTCACTCTGTTGGCCAGGCTGGAGTACAGTGGCACAATCCTGGCTCACTGCAATGTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGGTGGGATTACAAGCACCTGCCACTGTGCCCAGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGACTGGTCTTGAACTCCCAACCTCAAGCAATAGTCGTGTCCTGGCCTCCCAAAGTGCTGGGATTACAAGCATAAGCCACCATGCCTGGTCCCAAACAAAATTTTTTTTTTTTTTTTTTTGAGATGGAATCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCCGCCTCCCAAGTTCATGGCATTCTCC
Task1_train_27456
A genomic change on Chromosome 19 affects LOC130064903, PPFIA3 (ATAC-STARR-seq lymphoblastoid silent region 10914| PTPRF interacting protein alpha 3). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; not provided
TTTGTTTGTTTGTTTGTTTTGTTTTTTTTTGAGACTGGGTCTCTCTATATCGCCAAGCTGGAGTGCAGTGGCACGATCTTGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCAAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCAATCTCTTGACCTCGTGATCCAACAGCCTCAGCCTCCCAAAGTGCTGGGATTACATGAGTGGGCCACCTTGCCCGGCCGTTACTGTGTTTTTTTTTTGAAATGGAATCTCACACTGTTGCCCAGGCTGGAGTTCAGTGGTGCTATCTCGGCTCACTCTAACCTCCACCTCCCGGGTTCAAGCGATTCTTGTGCCTCAGCCTCCCCAGTGGCTGGGACTACAGGTGCATGCCACCATGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGGTCACCATGTTGCACAGCCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGTCCTGGCCTTGCTTTTTTTTTTTTTTTTTTTTCTTTTCCCGAATGGAGTAGGTCTTTAGATTCTTAGGGAGCCGGGGTCCAGATTTCTGGGAAATTGAAGGAGGCAGGAGTTGGGCTGGCTAGTAGGTGAGACCAACCCTGTGACATTATACAGGTAACCACATCCTAGTGACCTAATCCTGGGTCCCTTGGCCCTGTGGCCTTCTTAAGGCATGGTTCTGGTCTGGGCCTCAGTTTTCCTACCCATGCAGTGGGTTGAGGGGGATTCTCAGTAGAGCCAGAATAGGTAGACACTGATTTTCTCCACATTCACTCATACGATACCAGGGTCGGCCAGCTTTGGTTCCTTTGAGTGGGCTAGGCTTAGGTTTGCTGCCACTGTCTGTTGGAGTCTGACCTCAGTTTTCCCAAATCCTCTCACCCAGGTAGCCAGGACTGTTTTCCTAAGAGCAATGGCACAGGCACAGTGGCATACTTTGGGATGCTGAGGCAGGAGGATCCCTTGAGTCCAGGAGTGAGACCTCATCTCCACAAAAAAAAAAAAAAAAAAAAAGGTCAGGCGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTTCCTGTAATCCCAGCTACTCGGGAGGCTGAGGGAGGAGAATTGCTTGAACCGGGACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCGCATCACTGCACTCCAGCCTGGGTGACAGATCACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTAGGGAAAGGAAAAGAAAAGAAAAGAAAAGAAAAAAATTAGCCAGGTATGCTGGTGTGTGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGTTGGGAGGACTGCTCGAGTCTGGGTCGTTCAGGCTGCAGTGGGCCGTGATCGCGCCACTGAACTCCAGCCTGGGTGACAGAGTGAGACCCTGTTAAAAAAAAATAATAATAATAATAGGCCTCAGTTTCCCCTGGCAGCACCTGGTGGCCAATCTTTGGTTTCCCCGGTGGAGTGACAGGGTGGCGGTGCCTGTTTCCCTGTGTCATGATCACAGTGCCTGGGCCTCAGTTTCTTCTGTGCAGTGCTTGGTTTGCCCCCAACTATTTCCCCTACGTGGTATCCGAGTGGCTGTGCCTCAGTTTCTCTGTTGTGCCTTGACAAGGCCGGTCTGTTCCTTGCCCTCCCCGCCCCGCAGGCCCGCACCGCCGCCATGATGTGCGAGGTGATGCCCACCATCAGCGAGGATGGCCGGCGGGGCTCGGCGCTGGGCCCGGACGAGGCGGGCGGGGAGCTGGAGCGCCTCATGGTCACGATGCTCACGGAGCGCGAGCGCCTGCTGGAGACGCTGCGCGAGGCACAGGACGGGTTGGCTACAGCGCAGCTGCGGCTGCGCGAGCTCGGCCACGAGAAGGACTCGCTGCAGCGCCAGCTCAGCATCGCGCTGCCCCAGGTCTGGGCGGGACAGGGGCGGGGCATGAGGGGGCGGGGCCTCGGGGGGAAGAAGGCGGTCCGGAAGGGGCCGGGCTTGGCGCCTGGAAGGGAGGAGTCTGGGCGAGGCTTGCCGTTAATGGGCGGGGCCTGAGTGGCAAGGGACAGCGGGACTTAGCAGGGAGGGCGGGACCTTCAAACTTCCAGTCCCAGTGAATGAAGGAGACAGGGAAAGGATTGAGCCGAATGTCCAGATCCTGCCAATGTCTGGACAGGAGTTTGCAGCTCTGACGAAGGAGCTGAACTTATGTCGGGAGCAGCTGCTGGAGAGGGAGGAAGAGATTGCAGAGCTGAAGGCGGAACGGAACAACACGCGGGTGAGGGGTGTTGAGGGCGGGGCCTAAGTGGGGGCGGGGCCTCGTGGTGTTGAAGTGGGGGGCGGGGCCTCTCAGTGTTGCAGCGTGACCTATTTTTTTCCCCCATCTCGCCTTTCTGTCTTCTCCTCTTCCCTGCTCCCACTTCCTGGCTGGTCTCCCACTCTGGTGCCACTCCTTCCTCCCTGTCTCCATAACTTTTCTCTTTTCTGTACCACCGGTTCCTTGACCCCGACCTCCTCTCTTTTCCTGACCTGTCTCGGTGCTCCTTTATATGGCTCCATCTTTTCCTCCATGTGTCCGCCCTACCTGTCACCCTTTTTCTCACATCTGCCCCTTTTCCCTTGCCTCTTTTCCTTGACCCCATGCCGTGTGCTTGCAGCTGCTCCTGGAACACCTGGAGTGCCTGGTGTCCAGGCACGAGAGGTCACTGCGCATGACCGTGGTGAAGCGCCAGGCCCAGTCCCCGGGTGGGGTCTCCTCGGAGGTAGAAGTGCTCAAAGCTCTAAAGTCTCTCTTCGAGCACCACAAGGCCCTGGATGAGAAGGTATGAGAATTAGAAGAGCAGGGGTGGAGAATGGAAACCTATAGTTGACTGGGGCTGTTCTGAGTGGGAGAGATTCTGGCCGTGATTGGTTGGGGATGTTCTGAGTTGGAAGAATGTTGACTGTGATTGATTGGGACAGGATACATAGACTGGGACCTGACTGGTTGATAGCAGAAAAATAAACCAGGATGGGGGCTAACAGTGGATGGGGCAGATTGGATAGCTGGTTGCGGCTGCATACCCGTTATGGAGACAGGAGCCCCAACGCTGCCCTATCGGATCCGTCCCAGGGGTGTTCTGGACCAGGGGCAACTGTCCTAAACTGGATCTTGTCTCCAGCTGACTGTTGCCCTGCCCCGATCCCCAGGTCCGGGAGCGGCTGCGGATGGCGCTGGAGCGCGTGGCAGTGCTCGAGGAGGAGCTGGAACTGAGCAATCAGGAGGTGTGGGTGTGGCCAAGACAGGGAATTTGAATCCAAGGGGAGGGGCTAAGGGGCTGCCCACGGGGCGGAGCCGGTTGGGTGGGTTCCAGAGAGAATCTATTGGGGCAGGACTAGGGCAGACAAGCTATGGGGTTGGACTATGGAGAGAAACCAGTGGGGTTCCTAAGTGGGCACGCATTGCGCAGGGCTACGGGGAGAATCTCCCAGTGAGAGTGAGATTAAGGGTAGAACCAGGGGCTGGGGCTCAGGCTGGGACTAAGGAGGAAGTGATTGAATGGGGAAAAGCGGGGCTAAAGCGGAAACTTTGTCCAGGAGGCTAAGGGGAAGAGTAAGGGTAGACGCCCTCCGTGGTGGCAGCTAAGGAGGGATATAAGGAGGGAGGGAGCCTAAGGGTAAACCGTGGGGTAGGCATGGCCCCAGCACGACCGGAGGCATCTCATATGGGGCCGCCTATCCCCTTAGAGGGCCAATGCCAGTGAGAACTAGAGCTGGGGGTTCAGGGAGCCCCTGTGCTCTGATTCCCCTTTCACACTTCCAGACTCTGAACCTTCGAGAACAGCTGTCTAGGCGGCGGTCAGGGC
TTTGTTTGTTTGTTTGTTTTGTTTTTTTTTGAGACTGGGTCTCTCTATATCGCCAAGCTGGAGTGCAGTGGCACGATCTTGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCAAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCAATCTCTTGACCTCGTGATCCAACAGCCTCAGCCTCCCAAAGTGCTGGGATTACATGAGTGGGCCACCTTGCCCGGCCGTTACTGTGTTTTTTTTTTGAAATGGAATCTCACACTGTTGCCCAGGCTGGAGTTCAGTGGTGCTATCTCGGCTCACTCTAACCTCCACCTCCCGGGTTCAAGCGATTCTTGTGCCTCAGCCTCCCCAGTGGCTGGGACTACAGGTGCATGCCACCATGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGGTCACCATGTTGCACAGCCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGTCCTGGCCTTGCTTTTTTTTTTTTTTTTTTTTCTTTTCCCGAATGGAGTAGGTCTTTAGATTCTTAGGGAGCCGGGGTCCAGATTTCTGGGAAATTGAAGGAGGCAGGAGTTGGGCTGGCTAGTAGGTGAGACCAACCCTGTGACATTATACAGGTAACCACATCCTAGTGACCTAATCCTGGGTCCCTTGGCCCTGTGGCCTTCTTAAGGCATGGTTCTGGTCTGGGCCTCAGTTTTCCTACCCATGCAGTGGGTTGAGGGGGATTCTCAGTAGAGCCAGAATAGGTAGACACTGATTTTCTCCACATTCACTCATACGATACCAGGGTCGGCCAGCTTTGGTTCCTTTGAGTGGGCTAGGCTTAGGTTTGCTGCCACTGTCTGTTGGAGTCTGACCTCAGTTTTCCCAAATCCTCTCACCCAGGTAGCCAGGACTGTTTTCCTAAGAGCAATGGCACAGGCACAGTGGCATACTTTGGGATGCTGAGGCAGGAGGATCCCTTGAGTCCAGGAGTGAGACCTCATCTCCACAAAAAAAAAAAAAAAAAAAAAGGTCAGGCGCGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGTTCCTGTAATCCCAGCTACTCGGGAGGCTGAGGGAGGAGAATTGCTTGAACCGGGACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATCGCATCACTGCACTCCAGCCTGGGTGACAGATCACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTAGGGAAAGGAAAAGAAAAGAAAAGAAAAGAAAAAAATTAGCCAGGTATGCTGGTGTGTGCCTGTAGTCGCAGCTACTCAGGAGGCTGAGTTGGGAGGACTGCTCGAGTCTGGGTCGTTCAGGCTGCAGTGGGCCGTGATCGCGCCACTGAACTCCAGCCTGGGTGACAGAGTGAGACCCTGTTAAAAAAAAATAATAATAATAATAGGCCTCAGTTTCCCCTGGCAGCACCTGGTGGCCAATCTTTGGTTTCCCCGGTGGAGTGACAGGGTGGCGGTGCCTGTTTCCCTGTGTCATGATCACAGTGCCTGGGCCTCAGTTTCTTCTGTGCAGTGCTTGGTTTGCCCCCAACTATTTCCCCTACGTGGTATCCGAGTGGCTGTGCCTCAGTTTCTCTGTTGTGCCTTGACAAGGCCGGTCTGTTCCTTGCCCTCCCCGCCCCGCAGGCCCGCACCGCCGCCATGATGTGCGAGGTGATGCCCACCATCAGCGAGGATGGCCGGCGGGGCTCGGCGCTGGGCCCGGACGAGGCGGGCGGGGAGCTGGAGCGCCTCATGGTCACGATGCTCACGGAGTGCGAGCGCCTGCTGGAGACGCTGCGCGAGGCACAGGACGGGTTGGCTACAGCGCAGCTGCGGCTGCGCGAGCTCGGCCACGAGAAGGACTCGCTGCAGCGCCAGCTCAGCATCGCGCTGCCCCAGGTCTGGGCGGGACAGGGGCGGGGCATGAGGGGGCGGGGCCTCGGGGGGAAGAAGGCGGTCCGGAAGGGGCCGGGCTTGGCGCCTGGAAGGGAGGAGTCTGGGCGAGGCTTGCCGTTAATGGGCGGGGCCTGAGTGGCAAGGGACAGCGGGACTTAGCAGGGAGGGCGGGACCTTCAAACTTCCAGTCCCAGTGAATGAAGGAGACAGGGAAAGGATTGAGCCGAATGTCCAGATCCTGCCAATGTCTGGACAGGAGTTTGCAGCTCTGACGAAGGAGCTGAACTTATGTCGGGAGCAGCTGCTGGAGAGGGAGGAAGAGATTGCAGAGCTGAAGGCGGAACGGAACAACACGCGGGTGAGGGGTGTTGAGGGCGGGGCCTAAGTGGGGGCGGGGCCTCGTGGTGTTGAAGTGGGGGGCGGGGCCTCTCAGTGTTGCAGCGTGACCTATTTTTTTCCCCCATCTCGCCTTTCTGTCTTCTCCTCTTCCCTGCTCCCACTTCCTGGCTGGTCTCCCACTCTGGTGCCACTCCTTCCTCCCTGTCTCCATAACTTTTCTCTTTTCTGTACCACCGGTTCCTTGACCCCGACCTCCTCTCTTTTCCTGACCTGTCTCGGTGCTCCTTTATATGGCTCCATCTTTTCCTCCATGTGTCCGCCCTACCTGTCACCCTTTTTCTCACATCTGCCCCTTTTCCCTTGCCTCTTTTCCTTGACCCCATGCCGTGTGCTTGCAGCTGCTCCTGGAACACCTGGAGTGCCTGGTGTCCAGGCACGAGAGGTCACTGCGCATGACCGTGGTGAAGCGCCAGGCCCAGTCCCCGGGTGGGGTCTCCTCGGAGGTAGAAGTGCTCAAAGCTCTAAAGTCTCTCTTCGAGCACCACAAGGCCCTGGATGAGAAGGTATGAGAATTAGAAGAGCAGGGGTGGAGAATGGAAACCTATAGTTGACTGGGGCTGTTCTGAGTGGGAGAGATTCTGGCCGTGATTGGTTGGGGATGTTCTGAGTTGGAAGAATGTTGACTGTGATTGATTGGGACAGGATACATAGACTGGGACCTGACTGGTTGATAGCAGAAAAATAAACCAGGATGGGGGCTAACAGTGGATGGGGCAGATTGGATAGCTGGTTGCGGCTGCATACCCGTTATGGAGACAGGAGCCCCAACGCTGCCCTATCGGATCCGTCCCAGGGGTGTTCTGGACCAGGGGCAACTGTCCTAAACTGGATCTTGTCTCCAGCTGACTGTTGCCCTGCCCCGATCCCCAGGTCCGGGAGCGGCTGCGGATGGCGCTGGAGCGCGTGGCAGTGCTCGAGGAGGAGCTGGAACTGAGCAATCAGGAGGTGTGGGTGTGGCCAAGACAGGGAATTTGAATCCAAGGGGAGGGGCTAAGGGGCTGCCCACGGGGCGGAGCCGGTTGGGTGGGTTCCAGAGAGAATCTATTGGGGCAGGACTAGGGCAGACAAGCTATGGGGTTGGACTATGGAGAGAAACCAGTGGGGTTCCTAAGTGGGCACGCATTGCGCAGGGCTACGGGGAGAATCTCCCAGTGAGAGTGAGATTAAGGGTAGAACCAGGGGCTGGGGCTCAGGCTGGGACTAAGGAGGAAGTGATTGAATGGGGAAAAGCGGGGCTAAAGCGGAAACTTTGTCCAGGAGGCTAAGGGGAAGAGTAAGGGTAGACGCCCTCCGTGGTGGCAGCTAAGGAGGGATATAAGGAGGGAGGGAGCCTAAGGGTAAACCGTGGGGTAGGCATGGCCCCAGCACGACCGGAGGCATCTCATATGGGGCCGCCTATCCCCTTAGAGGGCCAATGCCAGTGAGAACTAGAGCTGGGGGTTCAGGGAGCCCCTGTGCTCTGATTCCCCTTTCACACTTCCAGACTCTGAACCTTCGAGAACAGCTGTCTAGGCGGCGGTCAGGGC
Task1_train_27457
Gene PPFIA3 (PTPRF interacting protein alpha 3), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; not provided
TGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCGGGCGTGATGTCGGGCGCCCGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCCGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTTGAGGCATAAGAATCACTTGAGCTTGGGAGGTGGAAGTTGCAGTAAGCCGAGATCCGTACCACTGCACTCCAGCCAGAGTGCTGGTTGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCACATCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATCGTGAAACCCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCATGGCAGCGGGTGCCTGTAATCCCAGCTACTTGAGAGGTTGAGGCAGGAGAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGACGGAGCAAGACTCTCTCTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGAGAGAGAGAACCTTCATCTGGGATTTTAAGCCTGGATAGCCGCAGGGGCTATTGGGAAATGTAGCCCCACCACGTGGGCTACCAGATGAGGGTCCATCTCCCATAAGAAGTTGAAGCACTTCTTTTGGGGTTCTAGGCCTCTGGTACCCTGGTAGCTCTTGAGAGGTGTTGCCTTCTAGGTAGAAGGGATCCTTATTTCCCATGAGACCCCAGGACACTTGCTGTTTGATTCTAAGTCTGCTCTATGCCAGAAATTAGTGAGAAATCCAAGGCCTGGGTTTTGAGGAGAGGGCTGGAGTGGAGACTTCACATCCCACAGGCCTCAGATCCTCTGAACCTGGAGGATCTGAGCCTGCAGTGTCCTAGAAGCTCATGGGAGGTGTAGCATCACCATTTTAACTCGCAGGTAGGTGGCAGGGACTTAAGATGGGCTAGTCCTGGGAGCTCTTAGCGGGTGTGACACCACCATTCTGACTCCCATGTCAGGGCACTTTGTTTCCCAGGGAACAAGGGGGTTCCCCGTCCTCTCCCCCAGGGGCTCGCAGTCCACGGGGCCCTTTGCTACCTCCGCAGGCGCTGGCGCAGCGGGAAGATATGGAGGAGCGGATTACAACACTGGAGAAGCGCTACCTGAGCGCCCAGCGGGAGGCCACGTCTCTGCACGACGCCAACGACAAACTGGAGAACGAGTTAGCTAGCAAGGAGTCGTTGTATCGGCAGGTGGGGGCGCGGCCGGGAGGGGCGATGGGGGCGGTGCCGGGGCCCAAGTGACCCAGCCCGTCCCCTCCCCCTGCCTCTCCCTCCCCCAGAGTGAAGAGAAGAGCCGTCAGCTGGCCGAGTGGTTGGACGACGCCAAGCAGAAGCTGCAGCAGACGCTGCAGAAAGCGGAGACCTTGCCCGAGATAGAGGCGCAGCTGGCGCAGCGCGTGGCGGCGCTCAACAAGGTGCGGGGAGGACTCGGGTCGGGGCCTTGCGTGGGGAAGGGGTGGGGCCTAGAGGAGGCGGGGCCGTGAATCTGGAGGGGTAGGAGCGAGGTCAGAACCCCGGATTTGGGGGAAAGGGTGGGGCCTAGGGGCTGGGAAAGGGACAGGACTTGGAATGGGGAGGGCCTGGAGGTTTGCGCGGGGGACGGATGGGAGCGGGGTTCTCTAGCCTGGACTGAAAGGACCGGTGGCCTGGAACCTGAGAGGGAAGGAACAGGTCCTGAAAAAGTGGACTAGGCGCAGGGGCGGGGCCTGACTCAAAGGTGCAGGGGAGGAGCCTGGCGCTGTGGGGGCGGAGCCTGGCGCTCAGCCTTGGAGGAGGTGGGGCTGGGAGCCTGACTGATCCTGGAAGGGTAAGTCACACGCCATGGGTTCCATCTCCTAGGCCGAGGAACGTCATGGGAATTTTGAGGAGCGGCTTCGGCAGCTGGAGGCCCAGCTGGAAGAGAAGAATCAAGAGCTGCAGCGGGTGAGGGGGCGGAAGACTGCACAGAGGGTGGGGCTTCGAGGCTGGGGCGGAGCTTAATAAGGAGGCTGGGCTGGGCCCGGGGGTGGGGCTTAGAGGAAGGGCCGTGGTCTGGGCAGGGTGGGCTTAACAACCCGCCCCGCTCTGCTTTGCGCAGGCCCGGCAGCGGGAGAAGATGAACGATGACCACAATAAGCGGCTGTCCGAGACGGTGGACAAGCTGCTGAGCGAGTCCAACGAGCGCTTACAGCTTCACCTCAAGGAGCGCATGGGGGCGCTGGAGGAGAAGGTGCGCCCCCCATACAGGACTGCGGGACGCGGAATTCCGGGACTACCTCTTGCTGGAATCCTGGGGCCCCAGGCCTTTCCCTCAGATCTGTTATCGGAGGCCTCCCTAAACCCCGGCATCCTGAGTTGGGCAGCCTTCTCTGCTCTATTGCCCAGACCGCTTTTTCACCTATTCTAGACGTTCCAAGAGCCGAATTCTGGGGCACCCATGCCTCGAGTCCTTGACTTTTCCCAAAGCCTCCAACCCCATGGGTCTCCAAACCCTGAACCCTCTGAGATTGCACAGGACGTCGCATCCCGGGGCTTCTCTCCCCAGAAACATCGTTGCCCCTGCTCCCCCGAAACTCACCACTTGTGTCCATCTCATTCCTCCTGGGTCCCCTCAGGCCTGTCTGTGTGCACTGGGAGCTGCCTGCAGCCCCACGGGCGTGGCCCCTCAGGCCTCACTCCCTCACTTCACCTCTGTCTCCACAGAACTCCCTGAGCGAGGAGATAGCCAACATGAAGAAGCTTCAGGATGAGTTGCTGCTAAACAAGGTAGGGGGCCCTGAGGGGACAGGAGGAGGATGTTGGGGCAGTGGTTGCTGAGGCTAGGGTCTGCAAGTCTGGCAGGGGCTGTTCCTCCTGGGCGGAGCAGATTCTAACCCGACACCTCCAACACCGGCCCCCAGGAGCAGCTCTTGGCCGAAATGGAGCGGATGCAGATGGAGATCGACCAGCTGCGGGGGAGGCCACCATCCTCCTACTCCAGGTGACAGCAGCCCTTCTGCCCTGCCCCCACCATGGAGCCCCGTTGGCCAAGCGCCAAGCTCCTCCCTTCTGATCCCCACTTCCTGTCCTCCTGAGACTTCTGACCCCTCTGTTTTTGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAATGCAGTGGCACGATTCCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCACCACAGCCGGCTAATTTTTGTAGTTTTAGTAGACACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTGGAACCCCAGGCCTCAAGTGATCCTCCCCCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCTCAGCCCACTCTGGTTTTTTACCCTGACTTTATTTATTTATTTTTTCTTTCTTTTGAGACAGAGTCTCACTCTGCTGCCTGGGCTAGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCTAGAGTGGCAGGGATTACAGGAGCCCACCACCACATCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGCTTCACCAGGTTGGCCTGGTCTCAAACTCCTGACCTCAAGTTATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCTTGAGCCACCAGGCCTGGCCCCTTGACCTTGACTTCAGGACCCCTGGCCCTAGGTCTGTCTCTGTGACCCTTACCTCTGTGCTCTTTTCCTGACCCCTTGGTCTCTGACTGCTTTCCTCATGCCCACAGGTCTCTCCCTGGCAGTGCCCTGGAGCTCCGTTACTCTCAGGCACCCACTTTACCTTCTGGTGCCCACCTGGATCCCTATGTGGCTGGCAGTGGTCGGGCAGGCAAGAGGGGCCGCTGGTCAGGGGTCAAGGAGGAGCCCTCCAAGG
TGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCGGGCGTGATGTCGGGCGCCCGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCCGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTTGAGGCATAAGAATCACTTGAGCTTGGGAGGTGGAAGTTGCAGTAAGCCGAGATCCGTACCACTGCACTCCAGCCAGAGTGCTGGTTGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCACATCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATCGTGAAACCCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCATGGCAGCGGGTGCCTGTAATCCCAGCTACTTGAGAGGTTGAGGCAGGAGAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGTGACGGAGCAAGACTCTCTCTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGAGAGAGAGAACCTTCATCTGGGATTTTAAGCCTGGATAGCCGCAGGGGCTATTGGGAAATGTAGCCCCACCACGTGGGCTACCAGATGAGGGTCCATCTCCCATAAGAAGTTGAAGCACTTCTTTTGGGGTTCTAGGCCTCTGGTACCCTGGTAGCTCTTGAGAGGTGTTGCCTTCTAGGTAGAAGGGATCCTTATTTCCCATGAGACCCCAGGACACTTGCTGTTTGATTCTAAGTCTGCTCTATGCCAGAAATTAGTGAGAAATCCAAGGCCTGGGTTTTGAGGAGAGGGCTGGAGTGGAGACTTCACATCCCACAGGCCTCAGATCCTCTGAACCTGGAGGATCTGAGCCTGCAGTGTCCTAGAAGCTCATGGGAGGTGTAGCATCACCATTTTAACTCGCAGGTAGGTGGCAGGGACTTAAGATGGGCTAGTCCTGGGAGCTCTTAGCGGGTGTGACACCACCATTCTGACTCCCATGTCAGGGCACTTTGTTTCCCAGGGAACAAGGGGGTTCCCCGTCCTCTCCCCCAGGGGCTCGCAGTCCACGGGGCCCTTTGCTACCTCCGCAGGCGCTGGCGCAGCGGGAAGATATGGAGGAGCGGATTACAACACTGGAGAAGCGCTACCTGAGCGCCCAGCGGGAGGCCACGTCTCTGCACGACGCCAACGACAAACTGGAGAACGAGTTAGCTAGCAAGGAGTCGTTGTATCGGCAGGTGGGGGCGCGGCCGGGAGGGGCGATGGGGGCGGTGCCGGGGCCCAAGTGACCCAGCCCGTCCCCTCCCCCTGCCTCTCCCTCCCCCAGAGTGAAGAGAAGAGCCGTCAGCTGGCCGAGTGGTTGGACGACGCCAAGCAGAAGCTGCAGCAGACGCTGCAGAAAGCGGAGACCTTGCCCGAGATAGAGGCGCAGCTGGCGCAGCGCGTGGCGGCGCTCAACAAGGTGCGGGGAGGACTCGGGTCGGGGCCTTGCGTGGGGAAGGGGTGGGGCCTAGAGGAGGCGGGGCCGTGAATCTGGAGGGGTAGGAGCGAGGTCAGAACCCCGGATTTGGGGGAAAGGGTGGGGCCTAGGGGCTGGGAAAGGGACAGGACTTGGAATGGGGAGGGCCTGGAGGTTTGCGCGGGGGACGGATGGGAGCGGGGTTCTCTAGCCTGGACTGAAAGGACCGGTGGCCTGGAACCTGAGAGGGAAGGAACAGGTCCTGAAAAAGTGGACTAGGCGCAGGGGCGGGGCCTGACTCAAAGGTGCAGGGGAGGAGCCTGGCGCTGTGGGGGCGGAGCCTGGCGCTCAGCCTTGGAGGAGGTGGGGCTGGGAGCCTGACTGATCCTGGAAGGGTAAGTCACACGCCATGGGTTCCATCTCCTAGGCCGAGGAACGTCATGGGAATTTTGAGGAGCGGCTTCGGCAGCTGGAGGCCCAGCTGGAAGAGAAGAATCAAGAGCTGCAGTGGGTGAGGGGGCGGAAGACTGCACAGAGGGTGGGGCTTCGAGGCTGGGGCGGAGCTTAATAAGGAGGCTGGGCTGGGCCCGGGGGTGGGGCTTAGAGGAAGGGCCGTGGTCTGGGCAGGGTGGGCTTAACAACCCGCCCCGCTCTGCTTTGCGCAGGCCCGGCAGCGGGAGAAGATGAACGATGACCACAATAAGCGGCTGTCCGAGACGGTGGACAAGCTGCTGAGCGAGTCCAACGAGCGCTTACAGCTTCACCTCAAGGAGCGCATGGGGGCGCTGGAGGAGAAGGTGCGCCCCCCATACAGGACTGCGGGACGCGGAATTCCGGGACTACCTCTTGCTGGAATCCTGGGGCCCCAGGCCTTTCCCTCAGATCTGTTATCGGAGGCCTCCCTAAACCCCGGCATCCTGAGTTGGGCAGCCTTCTCTGCTCTATTGCCCAGACCGCTTTTTCACCTATTCTAGACGTTCCAAGAGCCGAATTCTGGGGCACCCATGCCTCGAGTCCTTGACTTTTCCCAAAGCCTCCAACCCCATGGGTCTCCAAACCCTGAACCCTCTGAGATTGCACAGGACGTCGCATCCCGGGGCTTCTCTCCCCAGAAACATCGTTGCCCCTGCTCCCCCGAAACTCACCACTTGTGTCCATCTCATTCCTCCTGGGTCCCCTCAGGCCTGTCTGTGTGCACTGGGAGCTGCCTGCAGCCCCACGGGCGTGGCCCCTCAGGCCTCACTCCCTCACTTCACCTCTGTCTCCACAGAACTCCCTGAGCGAGGAGATAGCCAACATGAAGAAGCTTCAGGATGAGTTGCTGCTAAACAAGGTAGGGGGCCCTGAGGGGACAGGAGGAGGATGTTGGGGCAGTGGTTGCTGAGGCTAGGGTCTGCAAGTCTGGCAGGGGCTGTTCCTCCTGGGCGGAGCAGATTCTAACCCGACACCTCCAACACCGGCCCCCAGGAGCAGCTCTTGGCCGAAATGGAGCGGATGCAGATGGAGATCGACCAGCTGCGGGGGAGGCCACCATCCTCCTACTCCAGGTGACAGCAGCCCTTCTGCCCTGCCCCCACCATGGAGCCCCGTTGGCCAAGCGCCAAGCTCCTCCCTTCTGATCCCCACTTCCTGTCCTCCTGAGACTTCTGACCCCTCTGTTTTTGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAATGCAGTGGCACGATTCCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCACCACAGCCGGCTAATTTTTGTAGTTTTAGTAGACACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTGGAACCCCAGGCCTCAAGTGATCCTCCCCCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCTCAGCCCACTCTGGTTTTTTACCCTGACTTTATTTATTTATTTTTTCTTTCTTTTGAGACAGAGTCTCACTCTGCTGCCTGGGCTAGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCTAGAGTGGCAGGGATTACAGGAGCCCACCACCACATCCAGCTAATTTTTTTTATTTTTAGTAGAGACAGGGCTTCACCAGGTTGGCCTGGTCTCAAACTCCTGACCTCAAGTTATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCTTGAGCCACCAGGCCTGGCCCCTTGACCTTGACTTCAGGACCCCTGGCCCTAGGTCTGTCTCTGTGACCCTTACCTCTGTGCTCTTTTCCTGACCCCTTGGTCTCTGACTGCTTTCCTCATGCCCACAGGTCTCTCCCTGGCAGTGCCCTGGAGCTCCGTTACTCTCAGGCACCCACTTTACCTTCTGGTGCCCACCTGGATCCCTATGTGGCTGGCAGTGGTCGGGCAGGCAAGAGGGGCCGCTGGTCAGGGGTCAAGGAGGAGCCCTCCAAGG
Task1_train_27458
Here is a mutation in TRPM4 (transient receptor potential cation channel subfamily M member 4) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; TRPM4-related disorder
GTATTGAGGCCCTAGAATGGGGGGAAAGGAACATGGCCCCCAACACACGTGCCCATGACCTCCTGTCCCTGGAACTCAGATCTGGGGGCAGGGACTGGGCTAGGCCAGGGCTATAAATACAGCTGGGAGGGGTAGGGGGACTCAGGTTACGGAGGCCACAGCTGTCCCCATCACAGAGGGCTGGCAGGAGACAAGTGGCCTTGCCCGTCTCTGTGTGTCAGTATTTCCTACTCCTCACCCTTCATGACTGCCCCCACTAGGGTCTCCTTTCCTGTTCACGGGTCCTCCTCTCTCTTCAATTCTGTCATCTGCTCTCTCAGGGTCCCTGTCCCTCCTCCATGGGATTGCCTCTCCCTCTCACTCTGGGCTTCTGTCCCACTCTTATCTTAGTGTCAGTCCTCCCCCAAGTCTGTGTCCCTCTCTCTCCCCTAAATCTCTGGCCCCTCCTTTCTGAGTTCCTGCCCTTCCCCCAATTCTTTGGTTTTTGCATCCCCCTCTGCCCCTTGCCTCAGTCAAGGTGTCTCCTCCCCATCTCTGGCATCCACCTCTCTGGGTCTCTGTCCCCACTCTCTCTCAGAGTCTCTGTCCCCCTCTGTCTCAGAGTCTCTGTCCACCTCTCCCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCCCTGGGTCTCTGTCCCCCTCTCTCTGTGGATCTCTGTCCCCCTCTCTCTGGGTCTCTGTTCCCCTCTCTCTGTGGGTCTCTGTCCCCCTCTCTCTGTGGATCTCTGTCCCCCTCTCTCTGGGTCTCTGTTCCCCTCTCTCTGTGGGTCTCTGTCCCCCTCTCTCTCTGGGTCTCTGTTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCAGGGTCTCTGTCCCCCTCTGTCTCAGAGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCTCTCCCTGGGTCTCTGTACCCCTCTCCGTGGGTCTCTGTCCCCTCTCCCTGGGTCTCTGTCCCCCCATCCCTGGGTCTCTGTCCCCCCCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCTCCTCTCTCTCTGGGTCTCTGTTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCGTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCTCCTCTCTCTCTGGGTCTCTGTTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCGTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCTCTCCCTGGGTCTCTGTCCCCCTCTCCGTGGGTCTCTGTCCCCTCTCCCTGGGTCTCTGTCCCCCCCTCCCTGGGTCTCTGTCCCCCCCTCTCTGGGTCTCTGTCCCCCCCTCTCTGGGTCTCTGTCCTCCTCTCCCTGGGTCTCTGTCCCCCTCTCTCTGTGGGTCTCTGTCCCACTCTCTCTGGGTCTCTGTCCCACTCTCTCTGGGTCTCTGTCCCCTCTCCCTGGGTCTCTGTCCCCCTCTCTCTGTGGGTCTCTGTCCCCCTCTCTCTCTGTCTATCCCTGGGTCCCTGCTGCCCCACCTTCTGATTCTCTGTCCCCTAAGTCTTTGTCTCCCCCTCTTTGGGTTAAATTGTCCCCTCCCTGTCTGGCATCCTCCTTTCTGAGTCTGTTCCCTCTCCGCCACTGGCCCCCAACTCCTTCTGTTCCCATCTCGCGCTTGCCCTTGGAGTCTCCCCTGTGTGTCTCTCTCCCCCCGGCCCGGACCTCTGCACCCCCCAGGTCGCTGTCCCTCTGTCCCCTTATCGCGGCCTGGGACCCGCCCTCTCCCCGCCTCCCGCTTTGGCGTCTCCAAGACTCCCCGCCCCCCAGACCTCGCCCCGCCCCAGGCTAGGCTGGAAAGTGGAGGATCCGGTTTGCTCTGGGCGGGTCTGGAAGCAGAGCCGGCGGAGGGAGCGCCGGGGCCCTGGGCTGCAGGAGGTTGCGGCGGCCGCGGCAGCATGGTGGTGCCGGAGAAGGAGCAGGTGAGCGCCGGACCAGGGTCTGCGGGAGCGCGGAGCTGGGGACCTCGCCTCCAGGCTCCCAGAGAGGAGGGCGCTGGACACCCAGATTCCTGGGTCAGACGGAGGAGGGGGATGGGAGGGTCCAGGTTCCAGGGTCCAGGGCATGGGGGTCGAGACTCCTGAGTCTGGAGCGGGAGGGCGCTGGGGGCCCGGACTCCTGTGTCCGTGGGGAGCGCACGGGGTGGGTGGCTCTGTGTCCCATAGGACAGAACTGGGTGCCCTCTCACCCCACTTCCACCCCTACATTTGTTCCTGTCCCCAGAGCTGGATCCCCAAGATCTTCAAGAAGAAGACCTGCACGACGTTCATAGTTGACTCCACAGATCCGGGGTGAGGAGTTCGCCCCTGGACTGACCCCAGAGGGTCCGCGGCCCGCTGACCCCGCCCGCGGATGGTCACGCCCCAGCCCTGCTCCTTCCCCATTCCTGGACTCGGGGACCTTCCCAAGGGCGTTCCTTGCCGACGCTCTCCCTCTAGGAGCGTTTGGGTCTGTGTAGACACCCCTCATTCCCCATTCGCCATTCTCCCGCTCAGGGTCAGTGTAGACGCTCCAGGGCTCGGTTCTGCTTCTTTCCTCCCCGATGTCTCTTCTATGTGCTTCTGTCTCTTCGTGTCACTTTCTGTGTCTCTGTCTTTCCCTTTTGGGTATTTCTGTTTCATTCATTCATTCATTCATTCATTCATTCATTCATCCATCCATGCAAGAAACCCTCACTCAGCGCTCCCAAGGTCCCTTTAGCCTAATTCAACGGCCCTGCCAGGGTTCCAATTTCCCCTGGGACACGTGCTGTGTGGCTTCGGGCAAATCATTTCACCTCTCTGGGTCCCGTTTCTCATCTGGGCATCAAAAGAGGCTTGATCTCCTGGGGTTATTATGAGAATTAAACAAGTTAATGCTTGTGATATTCCTGGCACAGCGCCCAGCACAGGACGCTGGGAAATATCTGCAGCTCCCACTGGGAGGTGGCAATTATTACCGCGGGCGGGCCCTGTCTTGGTGGCCGGGGACACCAATTGAGCTAGATAGGGTGTGTGCGTCCGCGAGGAGCTCCCGCCCTTCAGTGACGGCCTCTCAAGCGGATCCAGGCTTTCTAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGTGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCGTTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGATCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCCCTCAAAGTACTGGGATTACAGGCGTGAGCCATCGCGCTGGGCCAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTGCACCGTGTTAGCCAGATGGTCTCGATCTCCTGACCTCATGATCCGCCGGCCTCGGCCTCCCAAAGCGCTAGGATTACAGGTGTGAGCCACCGCACCTGGCCCAGGCTTTCTAGTTTTTTGTTTTTTGTTTTTTTGAGACAGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGTTGCGATATCAGCTCACTGCAACATCCACCTCCTGGGTTCAAGCAGTTCTCATGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGCCTACCACCATGCCCAGCTAATTTTTTGTATTTTAGTAGAGACGGGATTTCACCCTGTTGCCCAGGTTGGTCTTGAACTCTTGATCTCAGGCAATGCACCTGCCTTGGCTTTCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCCTCTAGTTGTTTTTCAAGACAGTTTTTGGGGTGCGGGAAGTATCCACATTCCTACTTCAGTGTGTATTTTGTTATGACTATATATTAGTGCAGTATGGCTTGTAAATGATGGATAAATAAACAGATATGCGCTTGTTGGACGTGAGTGCT
GTATTGAGGCCCTAGAATGGGGGGAAAGGAACATGGCCCCCAACACACGTGCCCATGACCTCCTGTCCCTGGAACTCAGATCTGGGGGCAGGGACTGGGCTAGGCCAGGGCTATAAATACAGCTGGGAGGGGTAGGGGGACTCAGGTTACGGAGGCCACAGCTGTCCCCATCACAGAGGGCTGGCAGGAGACAAGTGGCCTTGCCCGTCTCTGTGTGTCAGTATTTCCTACTCCTCACCCTTCATGACTGCCCCCACTAGGGTCTCCTTTCCTGTTCACGGGTCCTCCTCTCTCTTCAATTCTGTCATCTGCTCTCTCAGGGTCCCTGTCCCTCCTCCATGGGATTGCCTCTCCCTCTCACTCTGGGCTTCTGTCCCACTCTTATCTTAGTGTCAGTCCTCCCCCAAGTCTGTGTCCCTCTCTCTCCCCTAAATCTCTGGCCCCTCCTTTCTGAGTTCCTGCCCTTCCCCCAATTCTTTGGTTTTTGCATCCCCCTCTGCCCCTTGCCTCAGTCAAGGTGTCTCCTCCCCATCTCTGGCATCCACCTCTCTGGGTCTCTGTCCCCACTCTCTCTCAGAGTCTCTGTCCCCCTCTGTCTCAGAGTCTCTGTCCACCTCTCCCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCCCTGGGTCTCTGTCCCCCTCTCTCTGTGGATCTCTGTCCCCCTCTCTCTGGGTCTCTGTTCCCCTCTCTCTGTGGGTCTCTGTCCCCCTCTCTCTGTGGATCTCTGTCCCCCTCTCTCTGGGTCTCTGTTCCCCTCTCTCTGTGGGTCTCTGTCCCCCTCTCTCTCTGGGTCTCTGTTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCAGGGTCTCTGTCCCCCTCTGTCTCAGAGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCTCTCCCTGGGTCTCTGTACCCCTCTCCGTGGGTCTCTGTCCCCTCTCCCTGGGTCTCTGTCCCCCCATCCCTGGGTCTCTGTCCCCCCCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCTCCTCTCTCTCTGGGTCTCTGTTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCGTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCTCCTCTCTCTCTGGGTCTCTGTTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCGTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCCCTCTCCCTGGGTCTCTGTCCCCCTCTCCGTGGGTCTCTGTCCCCTCTCCCTGGGTCTCTGTCCCCCCCTCCCTGGGTCTCTGTCCCCCCCTCTCTGGGTCTCTGTCCCCCCCTCTCTGGGTCTCTGTCCTCCTCTCCCTGGGTCTCTGTCCCCCTCTCTCTGTGGGTCTCTGTCCCACTCTCTCTGGGTCTCTGTCCCACTCTCTCTGGGTCTCTGTCCCCTCTCCCTGGGTCTCTGTCCCCCTCTCTCTGTGGGTCTCTGTCCCCCTCTCTCTCTGTCTATCCCTGGGTCCCTGCTGCCCCACCTTCTGATTCTCTGTCCCCTAAGTCTTTGTCTCCCCCTCTTTGGGTTAAATTGTCCCCTCCCTGTCTGGCATCCTCCTTTCTGAGTCTGTTCCCTCTCCGCCACTGGCCCCCAACTCCTTCTGTTCCCATCTCGCGCTTGCCCTTGGAGTCTCCCCTGTGTGTCTCTCTCCCCCCGGCCCGGACCTCTGCACCCCCCAGGTCGCTGTCCCTCTGTCCCCTTATCGCGGCCTGGGACCCGCCCTCTCCCCGCCTCCCGCTTTGGCGTCTCCAAGACTCCCCGCCCCCCAGACCTCGCCCCGCCCCAGGCTAGGCTGGAAAGTGGAGGATCCGGTTTGCTCTGGGCGGGTCTGGAAGCAGAGCCGGCGGAGGGAGCGCCGGGGCCCTGGGCTGCAGGAGGTTGCGGCGGCCGCGGCAGCATGGTGGTGCCGGAGAAGAAGCAGGTGAGCGCCGGACCAGGGTCTGCGGGAGCGCGGAGCTGGGGACCTCGCCTCCAGGCTCCCAGAGAGGAGGGCGCTGGACACCCAGATTCCTGGGTCAGACGGAGGAGGGGGATGGGAGGGTCCAGGTTCCAGGGTCCAGGGCATGGGGGTCGAGACTCCTGAGTCTGGAGCGGGAGGGCGCTGGGGGCCCGGACTCCTGTGTCCGTGGGGAGCGCACGGGGTGGGTGGCTCTGTGTCCCATAGGACAGAACTGGGTGCCCTCTCACCCCACTTCCACCCCTACATTTGTTCCTGTCCCCAGAGCTGGATCCCCAAGATCTTCAAGAAGAAGACCTGCACGACGTTCATAGTTGACTCCACAGATCCGGGGTGAGGAGTTCGCCCCTGGACTGACCCCAGAGGGTCCGCGGCCCGCTGACCCCGCCCGCGGATGGTCACGCCCCAGCCCTGCTCCTTCCCCATTCCTGGACTCGGGGACCTTCCCAAGGGCGTTCCTTGCCGACGCTCTCCCTCTAGGAGCGTTTGGGTCTGTGTAGACACCCCTCATTCCCCATTCGCCATTCTCCCGCTCAGGGTCAGTGTAGACGCTCCAGGGCTCGGTTCTGCTTCTTTCCTCCCCGATGTCTCTTCTATGTGCTTCTGTCTCTTCGTGTCACTTTCTGTGTCTCTGTCTTTCCCTTTTGGGTATTTCTGTTTCATTCATTCATTCATTCATTCATTCATTCATTCATCCATCCATGCAAGAAACCCTCACTCAGCGCTCCCAAGGTCCCTTTAGCCTAATTCAACGGCCCTGCCAGGGTTCCAATTTCCCCTGGGACACGTGCTGTGTGGCTTCGGGCAAATCATTTCACCTCTCTGGGTCCCGTTTCTCATCTGGGCATCAAAAGAGGCTTGATCTCCTGGGGTTATTATGAGAATTAAACAAGTTAATGCTTGTGATATTCCTGGCACAGCGCCCAGCACAGGACGCTGGGAAATATCTGCAGCTCCCACTGGGAGGTGGCAATTATTACCGCGGGCGGGCCCTGTCTTGGTGGCCGGGGACACCAATTGAGCTAGATAGGGTGTGTGCGTCCGCGAGGAGCTCCCGCCCTTCAGTGACGGCCTCTCAAGCGGATCCAGGCTTTCTAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGTGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCGTTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGATCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCCCTCAAAGTACTGGGATTACAGGCGTGAGCCATCGCGCTGGGCCAATTTTTTGTATTTTTTTTTTAGTAGAGACGGGGTTGCACCGTGTTAGCCAGATGGTCTCGATCTCCTGACCTCATGATCCGCCGGCCTCGGCCTCCCAAAGCGCTAGGATTACAGGTGTGAGCCACCGCACCTGGCCCAGGCTTTCTAGTTTTTTGTTTTTTGTTTTTTTGAGACAGAGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGTTGCGATATCAGCTCACTGCAACATCCACCTCCTGGGTTCAAGCAGTTCTCATGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGCCTACCACCATGCCCAGCTAATTTTTTGTATTTTAGTAGAGACGGGATTTCACCCTGTTGCCCAGGTTGGTCTTGAACTCTTGATCTCAGGCAATGCACCTGCCTTGGCTTTCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCCTCTAGTTGTTTTTCAAGACAGTTTTTGGGGTGCGGGAAGTATCCACATTCCTACTTCAGTGTGTATTTTGTTATGACTATATATTAGTGCAGTATGGCTTGTAAATGATGGATAAATAAACAGATATGCGCTTGTTGGACGTGAGTGCT
Task1_train_27459
Gene TRPM4 (transient receptor potential cation channel subfamily M member 4) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Progressive familial heart block type IB
GCTTAAAAGGGAGAAACGGGCCTGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGTGAAAAGAGCAAAACTCTGTCAAAAAAAAAAAAAAAAAAAAAAGGGAGAAATGTCTAATCATCTCCGGAATTGAATGGATGAATCATCCTTTGTTTCGCCAGTTCCCTCTAGATGGACATTTAGGTTCTCTCTTTCTTTCTTTTTTTGTTTTAAATAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGTCTCAAACTCCAGGGCTCAAGCAATCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACTATGCTCAGCCTTCTGTTTTTTTATTATTCCAAAATAATAAAAGTTTACATCCCAGATGTAAAGTTTATGGGTCAAAGGGTACATTTATTTTTGACATGGATAGATTTCCTTCTAAGTAGCTTCACTCATTTCCACACCTGCCATCAGGGTAAGAGAGTGCCCCCTTGAGGCCATGCTCGACAATGCCTGATACTTTCACTCTAAAATGTAGCTCTCAATTTAACTGAAAAAAAATTTGCCAATTTAATGGGTAAACATGACCTCTCCTTGTTATAATTTATGCACTCTTGACTACCAGATAGGTTGGACATCTTTTCCTAAGCTTAATGGCCATATGTCCTTGTGCCCCCTTGTTTTTTTTTTGGTTTTTGTTTTTGTTTTTGTTTTTGAGACGGAGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTACTGAGTAGCTGGGACTACAGGTGCCTGCCTCCACGCCCGGCTAATTTTTTGTATTTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAAGATGTTCTCGATCTCCTGACCCCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGACCGGCCACCCTCCCGTTTTTTTAATTGGGGTTCATTGATTTGTATATGTATAAATGTATATACTCCTTATACTCTGGATCCTAATCCTCGGTAGTTTTGTTGGTCTTAATATCTTCATATCTTCTCGAAGTCTGTGGCTTGTCTTTTCACTTTCACTTTTGTATGTTTCTTTTCTTTTCTTTTTTTTGAGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCTGTCCATACACTAGGTTTTTAATCCATCCAAAGTTTAAGTACATGAGGATGCAAAATAGGGGTAGAATTTTTATTTTCCCCATAGGAATTATTGATGTTTACTGGCCGTTTGAACGTCCTCTGTGAATTGTACGTGGTATCCTTTATCTGGCTTCCTTCCTTTTGCGTATTAGTTTGTAAGGACTCTATATGTTTTGCCTTTTATAGGTTGGACAGATATTCCGGCAGTTTTTCCAGCTTGATTCTTACAGGGACCAGCTCTTTGCTAAGGCCATCGTTCATTCAGTCATTACTTAATAGGCGCAGCCATTTTAAAAATGGGTGCCAGGGCCCTGCATGGACCAGCTTGGTACTGAATAAATTTGAGTAAACCCCGGGTGACTGGGAGGGTCCTGGTCCTGCCCGGTGGAGGCTGCAGCTTCCTCTGAAGGATGGCATTGGGAAGACTTCCATTTTCCTTGGCGTCTTGTGACACTTGACCCTTGTGGCATCTCCCCACACCCCAGGCTGACCCCGGGTTTGTACCACCTGGGCCGCACTGTCCTCTGCATCGACTTCATGGTTTTCACGGTGCGGCTGCTTCACATCTTCACGGTCAACAAACAGCTGGGGCCCAAGATCGTCATCGTGAGCAAGATGGTGAGGCAGGGGCGGGGCCAAAGTGGGCGGGGACATAGGGAAAGGGGTGGGGCCAGGGAGGGAGTGGTCCGTGGAGAAGGGGCGTGACTTTGGGGAGCAATGGGGCGTGTTTTTGGGATATAGGGGTGGGGCCAGAGTAGGAAAGGGCGGGGCCAGACTCAGCCACATCTCCCCACAGATGAAGGACGTGTTCTTCTTCCTCTTCTTCCTCGGCGTGTGGCTGGTAGCCTATGGCGTGGCCACGGAGGGGCTCCTGAGGCCACGGGACAGTGACTTCCCAAGTATCCTGCGCCGCGTCTTCTACCGTCCCTACCTGCAGATCTTCGGGCAGATTCCCCAGGAGGACATGGACGGTAGGGGGGATGACGGCCTGACAGCCTTCCTCTGAGTCTCTGTCCCCGCTCCCTGGGTCTCTGTCCTCCTGGCTCTAAGAAAATATCTGTCTCTCTGAGTCTCTGTCTCCCTCTTTCTCTGGATCTCTGAGTGATACCCTATATTCCCCATCATCATCTCTCTGGGTCTCTGCCTACCCCACCCCCTCTGTCTTTCTGTCTGTCTTTCTTTTTTCTTTTTTTTTTTCTTTTTTTTTGAGATGGATGTTAGAAATGTTTATTTTGTGGTGTCGTAAAGAAATAGTACTTGAACATAAATTTAATTTTTTTAGTAAAGCCATTTTTATTTTTTGTAGAAAGGGTACACTCGCCAGCAGTTTTGTCATGAGAGTACACGGAACAAAGGAGATAGGGTCATTTATAACCTGACGCGTCTATTTTACTGCTGTGTCTGGTTTTTATTGGCTGGAACCGGACTTTACATTTTGTATTTGTCTTGATTGGCTAGTAACTTAGAAGTTTTTAAAAGAAGCGAAGGCAGAGGAGAACAAAGGAAGGAGGAAGTAACTTGTGGAATGTTGAGAAAGGTAAAAACACTTTTAAATAAGGAAGAGGAACAGGCTATGATCTAATGCTTGCTTGAACCAGTATAAGTATGTCAGGGCAAATATTTAGGCTAAATTGTGAGAGCTAAGAACATAAAGTACATTGATTTATTTTTTATGGCTAGTAGATATTTAAGAATGTTAGCACAGGTGTTTGAATAAATTTTGTTTCTAAGAGAAGTTACTATTTATTGTTAATTAGATGGGGAGGAAAGTCTTTGAAGAGGAACCTGTACTTTACTTTTTACATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGATCGAAGCGATTCTCCTATCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCTGGCTAACAGTTTTGTGTTTTTAGTAGAGATGGGGTTTCATCACATTGGTCAGGCTAGTCTCAAACTCCCCACCTCAGGTGATCCGGCCATCTCAGCCTCCCAAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAGTCTTCCTGTCTTTCTTAGGTCTCTGTCCCCCTCACCCCATCTCTGAATGTCTCTCTTCACAGTGGCCCTCATGGAGCACAGCAACTGCTCGTCGGAGCCCGGCTTCTGGGCACACCCTCCTGGGGCCCAGGCGGGCACCTGCGTCTCCCAGTATGCCAACTGGCTGGTGGTGCTGCTCCTCGTCATCTTCCTGCTCGTGGCCAACATCCTGCTGGTCAACTTGCTCATTGCCATGTTCAGGTGAGGCCTGACTGCTCTCTGATCTGACCCCACCCAGCATGACCCGTGGCCCTCTCATGACTCTTGAACCCCGTCTAATGAATTCTGTTTTTAGTCCCTGAACTCTGATCCAATCTAATGCTGCCTTCTCCCCAAACCCAACCAGACCCTGCTTGTAATTTGGACTTTGGACTGATCCTCTCCCTGAGCCCAGGTTGAACTTCCTTATTTGTATTTTTTTGAGACAGGGTCTCACTCTGTCGCCAAGGCTAGAGTGTGGTGATGTGATCGTAGCTTACTGCAGCCTCGACCTCCTGGACTC
GCTTAAAAGGGAGAAACGGGCCTGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGTGAAAAGAGCAAAACTCTGTCAAAAAAAAAAAAAAAAAAAAAAGGGAGAAATGTCTAATCATCTCCGGAATTGAATGGATGAATCATCCTTTGTTTCGCCAGTTCCCTCTAGATGGACATTTAGGTTCTCTCTTTCTTTCTTTTTTTGTTTTAAATAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGTCTCAAACTCCAGGGCTCAAGCAATCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCTACTATGCTCAGCCTTCTGTTTTTTTATTATTCCAAAATAATAAAAGTTTACATCCCAGATGTAAAGTTTATGGGTCAAAGGGTACATTTATTTTTGACATGGATAGATTTCCTTCTAAGTAGCTTCACTCATTTCCACACCTGCCATCAGGGTAAGAGAGTGCCCCCTTGAGGCCATGCTCGACAATGCCTGATACTTTCACTCTAAAATGTAGCTCTCAATTTAACTGAAAAAAAATTTGCCAATTTAATGGGTAAACATGACCTCTCCTTGTTATAATTTATGCACTCTTGACTACCAGATAGGTTGGACATCTTTTCCTAAGCTTAATGGCCATATGTCCTTGTGCCCCCTTGTTTTTTTTTTGGTTTTTGTTTTTGTTTTTGTTTTTGAGACGGAGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTACTGAGTAGCTGGGACTACAGGTGCCTGCCTCCACGCCCGGCTAATTTTTTGTATTTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAAGATGTTCTCGATCTCCTGACCCCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGACCGGCCACCCTCCCGTTTTTTTAATTGGGGTTCATTGATTTGTATATGTATAAATGTATATACTCCTTATACTCTGGATCCTAATCCTCGGTAGTTTTGTTGGTCTTAATATCTTCATATCTTCTCGAAGTCTGTGGCTTGTCTTTTCACTTTCACTTTTGTATGTTTCTTTTCTTTTCTTTTTTTTGAGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCTGTCCATACACTAGGTTTTTAATCCATCCAAAGTTTAAGTACATGAGGATGCAAAATAGGGGTAGAATTTTTATTTTCCCCATAGGAATTATTGATGTTTACTGGCCGTTTGAACGTCCTCTGTGAATTGTACGTGGTATCCTTTATCTGGCTTCCTTCCTTTTGCGTATTAGTTTGTAAGGACTCTATATGTTTTGCCTTTTATAGGTTGGACAGATATTCCGGCAGTTTTTCCAGCTTGATTCTTACAGGGACCAGCTCTTTGCTAAGGCCATCGTTCATTCAGTCATTACTTAATAGGCGCAGCCATTTTAAAAATGGGTGCCAGGGCCCTGCATGGACCAGCTTGGTACTGAATAAATTTGAGTAAACCCCGGGTGACTGGGAGGGTCCTGGTCCTGCCCGGTGGAGGCTGCAGCTTCCTCTGAAGGATGGCATTGGGAAGACTTCCATTTTCCTTGGCGTCTTGTGACACTTGACCCTTGTGGCATCTCCCCACACCCCAGGCTGACCCCGGGTTTGTACCACCTGGGCCGCACTGTCCTCTGCATCGACTTCATGGTTTTCACGGTGCGGCTGCTTCACATCTTCACGGTCAACAGACAGCTGGGGCCCAAGATCGTCATCGTGAGCAAGATGGTGAGGCAGGGGCGGGGCCAAAGTGGGCGGGGACATAGGGAAAGGGGTGGGGCCAGGGAGGGAGTGGTCCGTGGAGAAGGGGCGTGACTTTGGGGAGCAATGGGGCGTGTTTTTGGGATATAGGGGTGGGGCCAGAGTAGGAAAGGGCGGGGCCAGACTCAGCCACATCTCCCCACAGATGAAGGACGTGTTCTTCTTCCTCTTCTTCCTCGGCGTGTGGCTGGTAGCCTATGGCGTGGCCACGGAGGGGCTCCTGAGGCCACGGGACAGTGACTTCCCAAGTATCCTGCGCCGCGTCTTCTACCGTCCCTACCTGCAGATCTTCGGGCAGATTCCCCAGGAGGACATGGACGGTAGGGGGGATGACGGCCTGACAGCCTTCCTCTGAGTCTCTGTCCCCGCTCCCTGGGTCTCTGTCCTCCTGGCTCTAAGAAAATATCTGTCTCTCTGAGTCTCTGTCTCCCTCTTTCTCTGGATCTCTGAGTGATACCCTATATTCCCCATCATCATCTCTCTGGGTCTCTGCCTACCCCACCCCCTCTGTCTTTCTGTCTGTCTTTCTTTTTTCTTTTTTTTTTTCTTTTTTTTTGAGATGGATGTTAGAAATGTTTATTTTGTGGTGTCGTAAAGAAATAGTACTTGAACATAAATTTAATTTTTTTAGTAAAGCCATTTTTATTTTTTGTAGAAAGGGTACACTCGCCAGCAGTTTTGTCATGAGAGTACACGGAACAAAGGAGATAGGGTCATTTATAACCTGACGCGTCTATTTTACTGCTGTGTCTGGTTTTTATTGGCTGGAACCGGACTTTACATTTTGTATTTGTCTTGATTGGCTAGTAACTTAGAAGTTTTTAAAAGAAGCGAAGGCAGAGGAGAACAAAGGAAGGAGGAAGTAACTTGTGGAATGTTGAGAAAGGTAAAAACACTTTTAAATAAGGAAGAGGAACAGGCTATGATCTAATGCTTGCTTGAACCAGTATAAGTATGTCAGGGCAAATATTTAGGCTAAATTGTGAGAGCTAAGAACATAAAGTACATTGATTTATTTTTTATGGCTAGTAGATATTTAAGAATGTTAGCACAGGTGTTTGAATAAATTTTGTTTCTAAGAGAAGTTACTATTTATTGTTAATTAGATGGGGAGGAAAGTCTTTGAAGAGGAACCTGTACTTTACTTTTTACATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGATCGAAGCGATTCTCCTATCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCTGGCTAACAGTTTTGTGTTTTTAGTAGAGATGGGGTTTCATCACATTGGTCAGGCTAGTCTCAAACTCCCCACCTCAGGTGATCCGGCCATCTCAGCCTCCCAAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAGTCTTCCTGTCTTTCTTAGGTCTCTGTCCCCCTCACCCCATCTCTGAATGTCTCTCTTCACAGTGGCCCTCATGGAGCACAGCAACTGCTCGTCGGAGCCCGGCTTCTGGGCACACCCTCCTGGGGCCCAGGCGGGCACCTGCGTCTCCCAGTATGCCAACTGGCTGGTGGTGCTGCTCCTCGTCATCTTCCTGCTCGTGGCCAACATCCTGCTGGTCAACTTGCTCATTGCCATGTTCAGGTGAGGCCTGACTGCTCTCTGATCTGACCCCACCCAGCATGACCCGTGGCCCTCTCATGACTCTTGAACCCCGTCTAATGAATTCTGTTTTTAGTCCCTGAACTCTGATCCAATCTAATGCTGCCTTCTCCCCAAACCCAACCAGACCCTGCTTGTAATTTGGACTTTGGACTGATCCTCTCCCTGAGCCCAGGTTGAACTTCCTTATTTGTATTTTTTTGAGACAGGGTCTCACTCTGTCGCCAAGGCTAGAGTGTGGTGATGTGATCGTAGCTTACTGCAGCCTCGACCTCCTGGACTC
Task1_train_27460
This sequence variant lies in TRPM4 (transient receptor potential cation channel subfamily M member 4) on Chromosome 19. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Erythrokeratodermia variabilis et progressiva 6
AAGGCCATCGTTCATTCAGTCATTACTTAATAGGCGCAGCCATTTTAAAAATGGGTGCCAGGGCCCTGCATGGACCAGCTTGGTACTGAATAAATTTGAGTAAACCCCGGGTGACTGGGAGGGTCCTGGTCCTGCCCGGTGGAGGCTGCAGCTTCCTCTGAAGGATGGCATTGGGAAGACTTCCATTTTCCTTGGCGTCTTGTGACACTTGACCCTTGTGGCATCTCCCCACACCCCAGGCTGACCCCGGGTTTGTACCACCTGGGCCGCACTGTCCTCTGCATCGACTTCATGGTTTTCACGGTGCGGCTGCTTCACATCTTCACGGTCAACAAACAGCTGGGGCCCAAGATCGTCATCGTGAGCAAGATGGTGAGGCAGGGGCGGGGCCAAAGTGGGCGGGGACATAGGGAAAGGGGTGGGGCCAGGGAGGGAGTGGTCCGTGGAGAAGGGGCGTGACTTTGGGGAGCAATGGGGCGTGTTTTTGGGATATAGGGGTGGGGCCAGAGTAGGAAAGGGCGGGGCCAGACTCAGCCACATCTCCCCACAGATGAAGGACGTGTTCTTCTTCCTCTTCTTCCTCGGCGTGTGGCTGGTAGCCTATGGCGTGGCCACGGAGGGGCTCCTGAGGCCACGGGACAGTGACTTCCCAAGTATCCTGCGCCGCGTCTTCTACCGTCCCTACCTGCAGATCTTCGGGCAGATTCCCCAGGAGGACATGGACGGTAGGGGGGATGACGGCCTGACAGCCTTCCTCTGAGTCTCTGTCCCCGCTCCCTGGGTCTCTGTCCTCCTGGCTCTAAGAAAATATCTGTCTCTCTGAGTCTCTGTCTCCCTCTTTCTCTGGATCTCTGAGTGATACCCTATATTCCCCATCATCATCTCTCTGGGTCTCTGCCTACCCCACCCCCTCTGTCTTTCTGTCTGTCTTTCTTTTTTCTTTTTTTTTTTCTTTTTTTTTGAGATGGATGTTAGAAATGTTTATTTTGTGGTGTCGTAAAGAAATAGTACTTGAACATAAATTTAATTTTTTTAGTAAAGCCATTTTTATTTTTTGTAGAAAGGGTACACTCGCCAGCAGTTTTGTCATGAGAGTACACGGAACAAAGGAGATAGGGTCATTTATAACCTGACGCGTCTATTTTACTGCTGTGTCTGGTTTTTATTGGCTGGAACCGGACTTTACATTTTGTATTTGTCTTGATTGGCTAGTAACTTAGAAGTTTTTAAAAGAAGCGAAGGCAGAGGAGAACAAAGGAAGGAGGAAGTAACTTGTGGAATGTTGAGAAAGGTAAAAACACTTTTAAATAAGGAAGAGGAACAGGCTATGATCTAATGCTTGCTTGAACCAGTATAAGTATGTCAGGGCAAATATTTAGGCTAAATTGTGAGAGCTAAGAACATAAAGTACATTGATTTATTTTTTATGGCTAGTAGATATTTAAGAATGTTAGCACAGGTGTTTGAATAAATTTTGTTTCTAAGAGAAGTTACTATTTATTGTTAATTAGATGGGGAGGAAAGTCTTTGAAGAGGAACCTGTACTTTACTTTTTACATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGATCGAAGCGATTCTCCTATCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCTGGCTAACAGTTTTGTGTTTTTAGTAGAGATGGGGTTTCATCACATTGGTCAGGCTAGTCTCAAACTCCCCACCTCAGGTGATCCGGCCATCTCAGCCTCCCAAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAGTCTTCCTGTCTTTCTTAGGTCTCTGTCCCCCTCACCCCATCTCTGAATGTCTCTCTTCACAGTGGCCCTCATGGAGCACAGCAACTGCTCGTCGGAGCCCGGCTTCTGGGCACACCCTCCTGGGGCCCAGGCGGGCACCTGCGTCTCCCAGTATGCCAACTGGCTGGTGGTGCTGCTCCTCGTCATCTTCCTGCTCGTGGCCAACATCCTGCTGGTCAACTTGCTCATTGCCATGTTCAGGTGAGGCCTGACTGCTCTCTGATCTGACCCCACCCAGCATGACCCGTGGCCCTCTCATGACTCTTGAACCCCGTCTAATGAATTCTGTTTTTAGTCCCTGAACTCTGATCCAATCTAATGCTGCCTTCTCCCCAAACCCAACCAGACCCTGCTTGTAATTTGGACTTTGGACTGATCCTCTCCCTGAGCCCAGGTTGAACTTCCTTATTTGTATTTTTTTGAGACAGGGTCTCACTCTGTCGCCAAGGCTAGAGTGTGGTGATGTGATCGTAGCTTACTGCAGCCTCGACCTCCTGGACTCAAGCAATCCTCCTGCCTTCGCCCCATAAGTAGCTGGGACTACTTAAAATTAGCCAGGCCAGCAGGCCTGCCTAATTTAAAAAAATTTTTGGAGAGAGGGGTCTCACTATGTTGTCCATGCTAGTCTCGAGCTCCTGGACTCAAGTGATCCTCCCTCCTCAGCCTCCCAAAGTGCTGGGATAATCTGTCACCTAGGCTGGAGTGTAGTGGCAAGTTCTCAGCTCACTGCAACCTCCACTTCCCACTCCCCCATACCCAGTTAATTTTTTGTATTTGTAGTAGAGATAGGGTTTCACCATGTTGGCCTTGAACTCTTGACCTCAAGTGATTGGCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCATCGCGCCCAGCCAACTTTGTTTTTTATTGTGGTAAAATTATATAAAATTTTCCATTTTTACTTCTTTTTTTTTTTTTTTTTTTTTGACGGAGTCTCGCTGTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTCACAATCTCAGCTCACTACAAGCTCCGCCACCCGGGTTCACGCCATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAACCCGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCCGCCTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTTACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTTTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACTGACATGAGCCACCGCGGCCGGAGTTGATTTTTACCATTTTTAAGTGTACAAGTCAGTGACATTAATTACATTTACAGTACTCTCCAACCATCACCACTATCTATTTTCAATACGTTCTATCACCCAGAACAGAAAGTGTGTCCCCATGAAACAGCAACTCCCCACTTCCCCTCCCCACAGGTCTTAGTAACCTCCAGTGTATTTTCTGTCTCTATGGATTTAGTCTAGATGTTTCATGTAAGTGGAATTATGCGATATTTGTCTTTTGGTGTCTGGCTGATTTTACTGAGCATGTTTTCAAGGCTCATCCCTGTTGTAGTGTGCATCAGAACTTCATTCATTCCGTTTTATGAATGAGTAATATTCTATTGTACAAATAGACCACATTTGGGCCCAGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGCAGGACCCCCTTTTTACTAAAAATACAAAAATTAGCTGGGCTCATGTCTGTAATTCCAGCTACTTGGGAGGCTCAGGCACGAGAGTCGCTTGAACCCAGGAGGCGGAGGCTACAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAGAAGACCACATTTGATTTACCCGCTCATCT
AAGGCCATCGTTCATTCAGTCATTACTTAATAGGCGCAGCCATTTTAAAAATGGGTGCCAGGGCCCTGCATGGACCAGCTTGGTACTGAATAAATTTGAGTAAACCCCGGGTGACTGGGAGGGTCCTGGTCCTGCCCGGTGGAGGCTGCAGCTTCCTCTGAAGGATGGCATTGGGAAGACTTCCATTTTCCTTGGCGTCTTGTGACACTTGACCCTTGTGGCATCTCCCCACACCCCAGGCTGACCCCGGGTTTGTACCACCTGGGCCGCACTGTCCTCTGCATCGACTTCATGGTTTTCACGGTGCGGCTGCTTCACATCTTCACGGTCAACAAACAGCTGGGGCCCAAGATCGTCATCGTGAGCAAGATGGTGAGGCAGGGGCGGGGCCAAAGTGGGCGGGGACATAGGGAAAGGGGTGGGGCCAGGGAGGGAGTGGTCCGTGGAGAAGGGGCGTGACTTTGGGGAGCAATGGGGCGTGTTTTTGGGATATAGGGGTGGGGCCAGAGTAGGAAAGGGCGGGGCCAGACTCAGCCACATCTCCCCACAGATGAAGGACGTGTTCTTCTTCCTCTTCTTCCTCGGCGTGTGGCTGGTAGCCTATGGCGTGGCCACGGAGGGGCTCCTGAGGCCACGGGACAGTGACTTCCCAAGTATCCTGCGCCGCGTCTTCTACCGTCCCTACCTGCAGATCTTCGGGCAGATTCCCCAGGAGGACATGGACGGTAGGGGGGATGACGGCCTGACAGCCTTCCTCTGAGTCTCTGTCCCCGCTCCCTGGGTCTCTGTCCTCCTGGCTCTAAGAAAATATCTGTCTCTCTGAGTCTCTGTCTCCCTCTTTCTCTGGATCTCTGAGTGATACCCTATATTCCCCATCATCATCTCTCTGGGTCTCTGCCTACCCCACCCCCTCTGTCTTTCTGTCTGTCTTTCTTTTTTCTTTTTTTTTTTCTTTTTTTTTGAGATGGATGTTAGAAATGTTTATTTTGTGGTGTCGTAAAGAAATAGTACTTGAACATAAATTTAATTTTTTTAGTAAAGCCATTTTTATTTTTTGTAGAAAGGGTACACTCGCCAGCAGTTTTGTCATGAGAGTACACGGAACAAAGGAGATAGGGTCATTTATAACCTGACGCGTCTATTTTACTGCTGTGTCTGGTTTTTATTGGCTGGAACCGGACTTTACATTTTGTATTTGTCTTGATTGGCTAGTAACTTAGAAGTTTTTAAAAGAAGCGAAGGCAGAGGAGAACAAAGGAAGGAGGAAGTAACTTGTGGAATGTTGAGAAAGGTAAAAACACTTTTAAATAAGGAAGAGGAACAGGCTATGATCTAATGCTTGCTTGAACCAGTATAAGTATGTCAGGGCAAATATTTAGGCTAAATTGTGAGAGCTAAGAACATAAAGTACATTGATTTATTTTTTATGGCTAGTAGATATTTAAGAATGTTAGCACAGGTGTTTGAATAAATTTTGTTTCTAAGAGAAGTTACTATTTATTGTTAATTAGATGGGGAGGAAAGTCTTTGAAGAGGAACCTGTACTTTACTTTTTACATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCAGATCGAAGCGATTCTCCTATCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCTGGCTAACAGTTTTGTGTTTTTAGTAGAGATGGGGTTTCATCACATTGGTCAGGCTAGTCTCAAACTCCCCACCTCAGGTGATCCGGCCATCTCAGCCTCCCAAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAGTCTTCCTGTCTTTCTTAGGTCTCTGTCCCCCTCACCCCATCTCTGAATGTCTCTCTTCACAGTGGCCCTCATGGAGCACAGCAACTGCTCGTCGGAGCCCGGCTTCTGGGCACACCCTCCTGGGGCCCAGGCGGGCACCTGCGTCTCCCAGTATGCCAACTGGCTGGTGGTGCTGCTCCTCGTCATCTTCCTGCTCGTGGCCAACATGCTGCTGGTCAACTTGCTCATTGCCATGTTCAGGTGAGGCCTGACTGCTCTCTGATCTGACCCCACCCAGCATGACCCGTGGCCCTCTCATGACTCTTGAACCCCGTCTAATGAATTCTGTTTTTAGTCCCTGAACTCTGATCCAATCTAATGCTGCCTTCTCCCCAAACCCAACCAGACCCTGCTTGTAATTTGGACTTTGGACTGATCCTCTCCCTGAGCCCAGGTTGAACTTCCTTATTTGTATTTTTTTGAGACAGGGTCTCACTCTGTCGCCAAGGCTAGAGTGTGGTGATGTGATCGTAGCTTACTGCAGCCTCGACCTCCTGGACTCAAGCAATCCTCCTGCCTTCGCCCCATAAGTAGCTGGGACTACTTAAAATTAGCCAGGCCAGCAGGCCTGCCTAATTTAAAAAAATTTTTGGAGAGAGGGGTCTCACTATGTTGTCCATGCTAGTCTCGAGCTCCTGGACTCAAGTGATCCTCCCTCCTCAGCCTCCCAAAGTGCTGGGATAATCTGTCACCTAGGCTGGAGTGTAGTGGCAAGTTCTCAGCTCACTGCAACCTCCACTTCCCACTCCCCCATACCCAGTTAATTTTTTGTATTTGTAGTAGAGATAGGGTTTCACCATGTTGGCCTTGAACTCTTGACCTCAAGTGATTGGCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCATCGCGCCCAGCCAACTTTGTTTTTTATTGTGGTAAAATTATATAAAATTTTCCATTTTTACTTCTTTTTTTTTTTTTTTTTTTTTGACGGAGTCTCGCTGTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTCACAATCTCAGCTCACTACAAGCTCCGCCACCCGGGTTCACGCCATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAACCCGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCCGCCTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTTACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTTTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACTGACATGAGCCACCGCGGCCGGAGTTGATTTTTACCATTTTTAAGTGTACAAGTCAGTGACATTAATTACATTTACAGTACTCTCCAACCATCACCACTATCTATTTTCAATACGTTCTATCACCCAGAACAGAAAGTGTGTCCCCATGAAACAGCAACTCCCCACTTCCCCTCCCCACAGGTCTTAGTAACCTCCAGTGTATTTTCTGTCTCTATGGATTTAGTCTAGATGTTTCATGTAAGTGGAATTATGCGATATTTGTCTTTTGGTGTCTGGCTGATTTTACTGAGCATGTTTTCAAGGCTCATCCCTGTTGTAGTGTGCATCAGAACTTCATTCATTCCGTTTTATGAATGAGTAATATTCTATTGTACAAATAGACCACATTTGGGCCCAGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGCAGGACCCCCTTTTTACTAAAAATACAAAAATTAGCTGGGCTCATGTCTGTAATTCCAGCTACTTGGGAGGCTCAGGCACGAGAGTCGCTTGAACCCAGGAGGCGGAGGCTACAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAGAAGACCACATTTGATTTACCCGCTCATCT
Task1_train_27461
Consider this mutation in CPT1C (carnitine palmitoyltransferase 1C) on Chromosome 19. Is this a benign change or a disease-causing variant?
Pathogenic; Hereditary spastic paraplegia 73
CCGGCCTGCAGCGAGGGGGCTAGCGCAGTGCCCAGCTCGCTGGGTGACCTCGGGCACGGCTCGTCCCCTCCTCGGCTTCAGTTTGCCTATCTGTATGTTGGAGCTTCTACTCCACATTTCTTCTCCCCTAACTCCAGCCCCTGAAACCGTCTTCCCCAGTCCCTCCCCGGGCTGCGACTAGGTTGGACCTAGAAGCACACGGGACCAGGCTGGGCGAAGAACACTGACGCCCAGAGCCGAATAAACAAGAGTTCCGTGTTTCAGTCTCTGCTTCTCTGTACCTATTTCGACCTCTCAGTCGAGGCTGGGTCTCTAATATACCTTTCTCTATTAGCCATGCTGCTTCTCCCTCACGGAAGTCCCACTGTCTACCTTGAATCCAACCCGCTGTGGCGCCTTTCTTGCCAACTCAATCCATGCACCTTCCGTGGGTGGTTTTGGCGGGCCGTCCTGACCCCCAAACATCCCTCCTCCCTCCCTGGCGTGAAAGGGCTGAGATTTGCTCCGGCACCCTACGCGCCTGACGTTATAATGCACCTGGGGTGGGCTGCGACCTCCCAGCTGAGCCTTGTTCCTCGAAGAGACAGGAGACTAAGAGACAATGAGCTGAGTGAGGAGCCCAGGAACCCGGGTTCCGAACAGCTGCGTAGAATGCGAGCGGCCAAATGGTGGAGAATCTGGCCGGGTAAAAGGAGACGGAGGACTGGGGATCGAACGGATGTAGGGGATTGGACGCCGTGGCTCGAAGGGGGCGGGGATAGAACGCGGGGATTGGAAGGAGGCGGGGATAAAACCCGGGACCTGAATACCCGGCTAGGGACACGAGAGAGAGGAATCGGGGTTTCTGGGTGACGGTGATCTCGGGGTGGGCAGGACTCCAAAGGCCCGTCGACCCGGTGGTGGACTCCTTGCACTGGGATTGGACATATGCAAGCGGGAGATTTGGGGCCGGCGCTCAAAATCGGGGGGCGGGGGTGGACTCGGGTTTGGACCCCAGGATCCGATCAGCGGACCCTTGATTCAACGTGGTAAGTACTGGACCCCAGGGGCTCGGGCTCCGGCGGGGCCTGGAGTCCTGTGTCTAGGGTTGGGCGTGCAAGCCTCTCCATCACTTGTCCTCGACGCTCGCCTCCGCTCACAGCCTCAGCATCCCAGGCTGCGAGGCATGCGCAGTGGGTGCTTCCTTCCCCATTCCCTCCAGCACGGGCGGGGGGAGGGGACGCTGAGCGGATGAATTTATAGACACCATCCCCCTCGCCTTGGCATGAAAAGCGGCAATGGGGTGGACAGCGTCAATGTCTAACAGGTGTTTGTTTCATATGGGTCTAAAACTAATGCTTTTCTCAAGACCCCGCAACTCAGCCTGGACCAGTTTCCCTCCTCCACCCACCCCCGAATCTTGAGAATCCTGTACTGGGGGGAGGGCACTGCCCCCGCACCATGTTCTTGGGAGAGCAGGTAAAGGGGTTAACGCGAGCTATCCCTCTGGCCTCTCTATGCGTTCCCAGAGGTCCCGAATTGACGTCCTTCCCTCAAAACCTCCGGGTCTACAAACCAGGACCCTCAAGACCCTTCAGGTGCTTAGAGAAGGATGAGCTAGGTTATGTAGTCCTGGGTCGGCGCAAAAAGGCAGCTGAAAGCGTGAGATCCCGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGGCTTCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGATCTGAGAGAGGAGGGGCTGGGGCCTGGGCTTCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGATCTGAGAGAGGAGGGACTGGGGCCTGGACTCCTGGGTATGAAGGAGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCTGAGGGCGGAGGGGCTGGGGTCCTGAAGTATGACTCTGCCCGACTCAGGGCTCCAGCGTGACATGGCTGAAGCGCACCAGGCCGTGGGCTTCCGACCCTCGCTGACCTCGGACGGGGCTGAAGTGGAACTCAGTGCCCCTGTGCTGCAGGAGATCTACCTCTCTGGCCTGCGCTCCTGGAAAAGGCATCTCTCACGTTTCTGGGTGAGGAGCGGTGCTGGTCGGTTTCCTTCCGGGGATCCAGGTTTCTGCTTCCGGGATGTCTGAGGCTCACTTCCGGCATTTCAGCTGGTTCATTTCTGGGAGACTATCACCCCTTTTTCTTAGAATTTTGATGTCTGCTCCCAGGACCCCTTTAGCAATTTCTCCGTGGCTCACTTCTGGGATCCACAGCCCCACCTGCTGAGAACCTCTGCTCACTTCTTTCACCCAAGAGGGGAACTGGGCCCCCCAAAAACTACCCACTTCCAGTTTCTAGAACTCCATATCCTTCCCTTATGGTGAAATTATCATTTCTTCCTTTCATCTCCAGCTTCTTTTGTAGTTGTTGTTTCTGAGACACAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCCCTGCCTCAGCCTCCCAGGTAGCCGGGATTATTGGCGCACGCCACCATGCCTGGCTTATTTATTTATTTATTTATGAGACAGAGTCTCACTCTGTTGCCCAGACTGGAATGCAGTGGGGTGATCTTGGCTCACTGCAACCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGGATTATACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCAACATGTTGGCCAGGCTAATCTCGATCTCCTGACCTCAAGTGATCTGCCTCCCAAAGCGCTTGGGTTACAGGAATGAGCCACCGCGCCCGGCCCAAACTCCTGCTCTGTCCCTGTTCTGGAATGCGCATGCCCAATGTGTAACCAGCACCCATGTCTGTCCCAGGGTTTCTGGTTCTAGAACTCTTGCACTGTCTCCATACAGGGACTCCCTGCTTGTCACATCCTCTGTGTGTGAACTGGGGTCTGGAACACCTGTGGGGTCATGATTGAGTTTGAATCCTGACTCCACCGCTTAGTAGCTGTGTCATCTTGGGCAAGCACCTCTCTTGGAGTCGCAGTTTCCCCTCGTGGAAAACATGGGTGTTGACAGCACCTCCCTCACAGGATAGCCTTGAAGACTAAATTAATTCTTCTATGTCCTGGCCCATGGCGAGGTCTGAGTGTTAGCTTCTGATATTGTTCTTCATTCATTCACCATATATTTATGGGGCATCCGGTAAGGGCCTGGCCCTCTTTAGCATGGAGAACACAGCAGATATCAACAGACAGAATCACGCCTGGGCACTGCGGGCTCACGGCTTTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGACTTGGACACCAGCCTGGACAACATAGGGAGACCCCATCTCTATTAAAAAAATAAAGACAGGTCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGACGGACGGATCATGAGGTCAGGAGATCGAGACCCTTCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACACACACACACAAATTAGCCTGGTGTGGTAGTGGGTGCCTGTAGTTCCAATTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAATAAAATAAAATAAAAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAAGACAGAATCCTGCTTTTATAGAGTTCTCATTCGAGTTGGGGGAGAAGGCAATAAAACAGATGAGCAAAACAGAAGGCAATAAAACAGATGAGCAAAATATAGGGTATGGTGACATTCTATAGTGTCATCTGATATTGATGGTGACACATGCTATGGTGAATGATAAATCGGGTAGAGAAGAGTGATGTGGGGGTGTTGCAGTTAAATAAGGGGGTGGCAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGACAGA
CCGGCCTGCAGCGAGGGGGCTAGCGCAGTGCCCAGCTCGCTGGGTGACCTCGGGCACGGCTCGTCCCCTCCTCGGCTTCAGTTTGCCTATCTGTATGTTGGAGCTTCTACTCCACATTTCTTCTCCCCTAACTCCAGCCCCTGAAACCGTCTTCCCCAGTCCCTCCCCGGGCTGCGACTAGGTTGGACCTAGAAGCACACGGGACCAGGCTGGGCGAAGAACACTGACGCCCAGAGCCGAATAAACAAGAGTTCCGTGTTTCAGTCTCTGCTTCTCTGTACCTATTTCGACCTCTCAGTCGAGGCTGGGTCTCTAATATACCTTTCTCTATTAGCCATGCTGCTTCTCCCTCACGGAAGTCCCACTGTCTACCTTGAATCCAACCCGCTGTGGCGCCTTTCTTGCCAACTCAATCCATGCACCTTCCGTGGGTGGTTTTGGCGGGCCGTCCTGACCCCCAAACATCCCTCCTCCCTCCCTGGCGTGAAAGGGCTGAGATTTGCTCCGGCACCCTACGCGCCTGACGTTATAATGCACCTGGGGTGGGCTGCGACCTCCCAGCTGAGCCTTGTTCCTCGAAGAGACAGGAGACTAAGAGACAATGAGCTGAGTGAGGAGCCCAGGAACCCGGGTTCCGAACAGCTGCGTAGAATGCGAGCGGCCAAATGGTGGAGAATCTGGCCGGGTAAAAGGAGACGGAGGACTGGGGATCGAACGGATGTAGGGGATTGGACGCCGTGGCTCGAAGGGGGCGGGGATAGAACGCGGGGATTGGAAGGAGGCGGGGATAAAACCCGGGACCTGAATACCCGGCTAGGGACACGAGAGAGAGGAATCGGGGTTTCTGGGTGACGGTGATCTCGGGGTGGGCAGGACTCCAAAGGCCCGTCGACCCGGTGGTGGACTCCTTGCACTGGGATTGGACATATGCAAGCGGGAGATTTGGGGCCGGCGCTCAAAATCGGGGGGCGGGGGTGGACTCGGGTTTGGACCCCAGGATCCGATCAGCGGACCCTTGATTCAACGTGGTAAGTACTGGACCCCAGGGGCTCGGGCTCCGGCGGGGCCTGGAGTCCTGTGTCTAGGGTTGGGCGTGCAAGCCTCTCCATCACTTGTCCTCGACGCTCGCCTCCGCTCACAGCCTCAGCATCCCAGGCTGCGAGGCATGCGCAGTGGGTGCTTCCTTCCCCATTCCCTCCAGCACGGGCGGGGGGAGGGGACGCTGAGCGGATGAATTTATAGACACCATCCCCCTCGCCTTGGCATGAAAAGCGGCAATGGGGTGGACAGCGTCAATGTCTAACAGGTGTTTGTTTCATATGGGTCTAAAACTAATGCTTTTCTCAAGACCCCGCAACTCAGCCTGGACCAGTTTCCCTCCTCCACCCACCCCCGAATCTTGAGAATCCTGTACTGGGGGGAGGGCACTGCCCCCGCACCATGTTCTTGGGAGAGCAGGTAAAGGGGTTAACGCGAGCTATCCCTCTGGCCTCTCTATGCGTTCCCAGAGGTCCCGAATTGACGTCCTTCCCTCAAAACCTCCGGGTCTACAAACCAGGACCCTCAAGACCCTTCAGGTGCTTAGAGAAGGATGAGCTAGGTTATGTAGTCCTGGGTCGGCGCAAAAAGGCAGCTGAAAGCGTGAGATCCCGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGGCTTCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGATCTGAGAGAGGAGGGGCTGGGGCCTGGGCTTCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGATCTGAGAGAGGAGGGACTGGGGCCTGGACTCCTGGGTATGAAGGAGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGTCTGAGGGCGGAGGGGCTGGGGTCCTGAAGTATGACTCTGCCCGACTCAGGGCTCCAGCGTGACATGGCTGAAGCGCACCAGGCCGTGGGCTTCCGACCCTCGCTGACCTCGGACGGGGCTGAAGTGGAACTCAGTGCCCCTGTGCTGCAGGAGATCTACCTCTCTGGCCTGTGCTCCTGGAAAAGGCATCTCTCACGTTTCTGGGTGAGGAGCGGTGCTGGTCGGTTTCCTTCCGGGGATCCAGGTTTCTGCTTCCGGGATGTCTGAGGCTCACTTCCGGCATTTCAGCTGGTTCATTTCTGGGAGACTATCACCCCTTTTTCTTAGAATTTTGATGTCTGCTCCCAGGACCCCTTTAGCAATTTCTCCGTGGCTCACTTCTGGGATCCACAGCCCCACCTGCTGAGAACCTCTGCTCACTTCTTTCACCCAAGAGGGGAACTGGGCCCCCCAAAAACTACCCACTTCCAGTTTCTAGAACTCCATATCCTTCCCTTATGGTGAAATTATCATTTCTTCCTTTCATCTCCAGCTTCTTTTGTAGTTGTTGTTTCTGAGACACAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCCCTGCCTCAGCCTCCCAGGTAGCCGGGATTATTGGCGCACGCCACCATGCCTGGCTTATTTATTTATTTATTTATGAGACAGAGTCTCACTCTGTTGCCCAGACTGGAATGCAGTGGGGTGATCTTGGCTCACTGCAACCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGGATTATACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCAACATGTTGGCCAGGCTAATCTCGATCTCCTGACCTCAAGTGATCTGCCTCCCAAAGCGCTTGGGTTACAGGAATGAGCCACCGCGCCCGGCCCAAACTCCTGCTCTGTCCCTGTTCTGGAATGCGCATGCCCAATGTGTAACCAGCACCCATGTCTGTCCCAGGGTTTCTGGTTCTAGAACTCTTGCACTGTCTCCATACAGGGACTCCCTGCTTGTCACATCCTCTGTGTGTGAACTGGGGTCTGGAACACCTGTGGGGTCATGATTGAGTTTGAATCCTGACTCCACCGCTTAGTAGCTGTGTCATCTTGGGCAAGCACCTCTCTTGGAGTCGCAGTTTCCCCTCGTGGAAAACATGGGTGTTGACAGCACCTCCCTCACAGGATAGCCTTGAAGACTAAATTAATTCTTCTATGTCCTGGCCCATGGCGAGGTCTGAGTGTTAGCTTCTGATATTGTTCTTCATTCATTCACCATATATTTATGGGGCATCCGGTAAGGGCCTGGCCCTCTTTAGCATGGAGAACACAGCAGATATCAACAGACAGAATCACGCCTGGGCACTGCGGGCTCACGGCTTTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGACTTGGACACCAGCCTGGACAACATAGGGAGACCCCATCTCTATTAAAAAAATAAAGACAGGTCGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGACGGACGGATCATGAGGTCAGGAGATCGAGACCCTTCTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACACACACACACAAATTAGCCTGGTGTGGTAGTGGGTGCCTGTAGTTCCAATTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAATAAAATAAAATAAAAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAAGACAGAATCCTGCTTTTATAGAGTTCTCATTCGAGTTGGGGGAGAAGGCAATAAAACAGATGAGCAAAACAGAAGGCAATAAAACAGATGAGCAAAATATAGGGTATGGTGACATTCTATAGTGTCATCTGATATTGATGGTGACACATGCTATGGTGAATGATAAATCGGGTAGAGAAGAGTGATGTGGGGGTGTTGCAGTTAAATAAGGGGGTGGCAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGACAGA
Task1_train_27462
A variant affecting Chromosome 19, within the gene MED25 (mediator complex subunit 25), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
TTATGTTTTAAAATATTTACTGGCCATTCAAAATTTTGTGTGTGTGTTTGTGTGAAACTAGTCAGGTTTCTTTTTATTTATTTATTTTTATTTTTTTTGAGACGGAGTCTAACTCTGCCGCCCAGGCTGGAATGCAGTGGCACAATCTCAGTTGACTGCAACCTCCGCCTCCCGGGTTCAGGAGAATCTCCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCACCAGGACGGCTAATTTTTTTATTTTTAGTAGTTAGAAGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACCCCTTACCTCGGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACGGCGTCCGGCCCTGGTCAGGTTTCTTTCTATTAAAACAAATATAAAGTGGCAGGGCACGATGGCTAACACCTGGGATCGCTTTAGCCGAGGAGTTTGAGACACGCCAGAGCAACACAGTGAGACCCCATCTCTACAAAAAATTTAAAAATTAGCTGGAAGTGGTAGTGCGCGGCTGTGGTCCCAGCTGCTCCACAGGCTGAAGAGTGGCTCCAGTGCGAGTAGAGGCTGCCGTGAGCCAAGATTGGGCCACTGCACTTCAACCTGCACAACAGAAAGAGACCCTGCCTCAAAAAATAAAAATTAAAATTAAAAGATAATAGTAATGAAGTGTTTCTATTTTTCTATATTGTTATTCATCAGTAAGATTTATTTGCGTAGTACATTTCTGTCAACAAACACGCTAGAAAGATTTTCCCAGTTGGCCGTATATTTTTCAACTTGGTTTATACAGTCTTTTGGGAAAAATTAATGAAGACTACGTTTTCTAACTTTGCTGTAGTGCTAAGAAACTCCATGGCAGTCATTAAGATTTTTTCCCTTCAGATAGTTTTCGGGTTTCATTTGTTGCACTTACATTTTTAATCCACCTGGAATGTATTTACGTTCTAAGCCAGTTTCTGGCTCCTCTCCCAGAAAACAACGCTCAGGTGTTGCTTAGCAACCCGCACTTGGTTTGGTGTTCGGCTTCTTTTCGGGGGGGAAAACAACTGCCCTCCCTTCCAAGTTGAGGACGACCTTAAAGCGTCGCCTAGTAACCTCGTTTCCGCCGATGTGATTGGATCCTTCTCGCGTCCCTCCCCTAGTCCCCACGCCCGAAAGAACAGAACCAGAAACTTAATCTAACGGTTACAAAACAAGGGCAGCGGGCCCGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAAGCCAAGGCGGGCGAATCACTTGAGGTCAGGAGTTCGAGAACAGCCTGGCCCACAGGGTGAAACTCTTTCTCTACTAAAAATACAAAAATTAGCGGGGCGTGGTTGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGCGGAGGTTGTAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGGGCGAGACTCCCGTTTCGAAAAAACAAACAAACAAAAAACAAAACACAAAAACGAAAACAAGGGCAGCGTACGCGTTGCATAGCAACCAGGTCTCCTGCCCCTCCCTTTGAGACAAGAGGCGGACCTGGACGCCCCGCTCAAAGATGGCGGCTGACTGAGCCGCTTTCAATTTATTTAGCTTTTGACAATAATTCCGTCTAACCCATCAGGCCCCTAGAAGGGCTAACTATGCCCTTTCTGAGTCTTCCACGCGGTGGGGGCGAAGGAGGATGGAGCTAGAACGAAGCCTCAGCGCGTGCCCCGCACAAACATGGCAGCATTCCCAGCAGCCCTAAACCGCCCGACGCGAGCGCGCGCGCGGCGCAGGCGCATTTCTGCTCATTCCGCGGCGTCGGCTGCGGCTGCAGTGGTGGTGGCGGGTACCGCACGGGGTATGGTCCCCGGGTCCGAGGGCCCGGCCCGCGCCGGGAGCGTGGTGGCCGACGTGGTGTTTGTGATTGAGGGTACGGCCAACCTGGGACCCTACTTCGAGGGGCTCCGCAAGCACTACCTGCTCCCGGCCATCGAGTGAGTGCTGTTTCCGCGACTCTAACCCCGCCCTCCCACTTCAGTTTCGCACAGTTTCTTGCCTGACTCCGACCTTTCACTTCCTACCCTCACAGGTATTTTAATGGTGGTCCTCCTGCTGAGACGGACTTCGGGGGAGACGTGAGTCTAGGGACTCCTGGGCCTGAGGGAGGAGGGGCCGGGGGCCTGGACTCCTGGGTCTGAGGGAGGGAGAAAGGGCTGGGCCTGGACTCCTGAGTTTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTTGTTCTGAGGGAGGAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGTGGAGGCGCTGGGGCCCGGATTCCTGGGTCCGAGGGAGGAGGGAGCTAGGGGCCCAGATCCCTGGGTCTGAGGGAGGAAGGGCTGGGCGTCTGGACTGCTGGGTCTGAGAAAGGAGGAGCTGAGGCCTGGATTCCTGGGTCTGAGGGAGGAGGTGCTGGGGCCTGGGCTCCTGGGTCTGAGGGAGGAGGGGCCGGGGGCCTGGATTCCTGGGTCTGAGGGAGAAGGGGCTGGGGCCGAGATTGCTGGGTCTGAGGAAGGAGGAAGCTGAGGAGTTCCTGGTTCTGGAGGAACGGGAAGCTGGGAGCCCTGATTCCTTCTCTAAGGGAAAAGGGAATTGAGGTCCCAGATTAAAAGTTTTCTGTCCTCCCCTCCCAGTATGGGGGGACCCAGTACAGCCTCGTGGTGTTCAACACAGTGGACTGCGCTCCCGAGTCCTACGTACAATGTCACGCTCCCACCAGCAGCGCCTATGAGTTTGTCACCTGGCTCGATGGCATTAAGTGAGCTTTCCCCCACTTGGGGTGGGTTGCTGGTCCCTGTGAGGGGCCGTGAATGAGTGATGGCTTGGGGTGGTTGGTGTCCCCGTGAGAGGCTGTGAATAAGTGATGGCTTGGGGTGGTTGGTGTCCCCGTGAGGGGCTGTGAATAAGTAATGGCTTGGGGTGGTTGGGGTCCCTGCGAGGGGCCGTGAATGAGCGATGGCTTGGGTTTGAGCTGCAGGAAACATCTCATACATTAAGGGATTGAAAGGACTTTGAGGGTGATTGTGTTTTTGTCAGAAGTCACTTTTGTGGTGGCTTCTGTGTGCTCAGCAATGTTGCCATCAGTTTAGAAGTAGGAAAAACCTTCCCATTCAGGGAGGCCTGGCTGAGCTCCAGCAGCCACCTTGTACTCCCTGTGTGATTGTCCCCTTTCTGTCCTCTCTTTTTCCGTCTACCCCTGTCCTCCTTTTCCAGATGGGTACATTGTAGCCTCAGTGCAGGGGGATGGGTCAGAGCCAGGATAGATCCCTCTGTGGCTTGGGTCAGAATTTTTTTTTTTTTTTTTGAAACAGTGTCTTGCTCTGTCTCCCAGGCTTGTAGTGCAGTGGCACAGTCGTGGCTCACTGCAACCTGTACCTCCTGGGTTGAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACGCCACTATGCCCAGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCCACTGTTGCGGGATTCAGGACGACAGGAGAGAGCCCTCGGGTTAAAGCAGGAGAATCTTTCATTGAGTGCACTCAGGCCCAAGCCGACTCACGTCCAAAGACGGCCCAGAACAAAGGTAGCACTTGACTTTTATACACACTTCACAAAAGGGGGTGGGCTAGCTTGAAGCAAGCTTACAGTGGCGTGACAGCAGGGATACAGAGGCAGAACAAAAACAGTTAATCAAATTGTTGTAACAGGTTTATAACTCAGGATTGCACATAACCGTTGCTATGCAACCCAGATGTCCCTTATCTAGGTTAGCCTAGGCACGGGCTTATCCCATAACCTTCACTGTGGTGCCCAGGCAGCTCAGGCTTCTCATGACCTTCGCTGTACTTCT
TTATGTTTTAAAATATTTACTGGCCATTCAAAATTTTGTGTGTGTGTTTGTGTGAAACTAGTCAGGTTTCTTTTTATTTATTTATTTTTATTTTTTTTGAGACGGAGTCTAACTCTGCCGCCCAGGCTGGAATGCAGTGGCACAATCTCAGTTGACTGCAACCTCCGCCTCCCGGGTTCAGGAGAATCTCCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCACCAGGACGGCTAATTTTTTTATTTTTAGTAGTTAGAAGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACCCCTTACCTCGGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACGGCGTCCGGCCCTGGTCAGGTTTCTTTCTATTAAAACAAATATAAAGTGGCAGGGCACGATGGCTAACACCTGGGATCGCTTTAGCCGAGGAGTTTGAGACACGCCAGAGCAACACAGTGAGACCCCATCTCTACAAAAAATTTAAAAATTAGCTGGAAGTGGTAGTGCGCGGCTGTGGTCCCAGCTGCTCCACAGGCTGAAGAGTGGCTCCAGTGCGAGTAGAGGCTGCCGTGAGCCAAGATTGGGCCACTGCACTTCAACCTGCACAACAGAAAGAGACCCTGCCTCAAAAAATAAAAATTAAAATTAAAAGATAATAGTAATGAAGTGTTTCTATTTTTCTATATTGTTATTCATCAGTAAGATTTATTTGCGTAGTACATTTCTGTCAACAAACACGCTAGAAAGATTTTCCCAGTTGGCCGTATATTTTTCAACTTGGTTTATACAGTCTTTTGGGAAAAATTAATGAAGACTACGTTTTCTAACTTTGCTGTAGTGCTAAGAAACTCCATGGCAGTCATTAAGATTTTTTCCCTTCAGATAGTTTTCGGGTTTCATTTGTTGCACTTACATTTTTAATCCACCTGGAATGTATTTACGTTCTAAGCCAGTTTCTGGCTCCTCTCCCAGAAAACAACGCTCAGGTGTTGCTTAGCAACCCGCACTTGGTTTGGTGTTCGGCTTCTTTTCGGGGGGGAAAACAACTGCCCTCCCTTCCAAGTTGAGGACGACCTTAAAGCGTCGCCTAGTAACCTCGTTTCCGCCGATGTGATTGGATCCTTCTCGCGTCCCTCCCCTAGTCCCCACGCCCGAAAGAACAGAACCAGAAACTTAATCTAACGGTTACAAAACAAGGGCAGCGGGCCCGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAAGCCAAGGCGGGCGAATCACTTGAGGTCAGGAGTTCGAGAACAGCCTGGCCCACAGGGTGAAACTCTTTCTCTACTAAAAATACAAAAATTAGCGGGGCGTGGTTGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGCGGAGGTTGTAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGGGCGAGACTCCCGTTTCGAAAAAACAAACAAACAAAAAACAAAACACAAAAACGAAAACAAGGGCAGCGTACGCGTTGCATAGCAACCAGGTCTCCTGCCCCTCCCTTTGAGACAAGAGGCGGACCTGGACGCCCCGCTCAAAGATGGCGGCTGACTGAGCCGCTTTCAATTTATTTAGCTTTTGACAATAATTCCGTCTAACCCATCAGGCCCCTAGAAGGGCTAACTATGCCCTTTCTGAGTCTTCCACGCGGTGGGGGCGAAGGAGGATGGAGCTAGAACGAAGCCTCAGCGCGTGCCCCGCACAAACATGGCAGCATTCCCAGCAGCCCTAAACCGCCCGACGCGAGCGCGCGCGCGGCGCAGGCGCATTTCTGCTCATTCCGCGGCGTCGGCTGCGGCTGCAGTGGTGGTGGCGGGTACCGCACGGGGTATGGTCCCCGGGTCCGAGGGCCCGGCCCGCGCCGGGAGCGTGGTGGCCGACGTGGTGTTTGTGATTGAGGGTACGGCCAACCTGGGACCCTACTTCGAGGGGCTCCGCAAGCACTGCCTGCTCCCGGCCATCGAGTGAGTGCTGTTTCCGCGACTCTAACCCCGCCCTCCCACTTCAGTTTCGCACAGTTTCTTGCCTGACTCCGACCTTTCACTTCCTACCCTCACAGGTATTTTAATGGTGGTCCTCCTGCTGAGACGGACTTCGGGGGAGACGTGAGTCTAGGGACTCCTGGGCCTGAGGGAGGAGGGGCCGGGGGCCTGGACTCCTGGGTCTGAGGGAGGGAGAAAGGGCTGGGCCTGGACTCCTGAGTTTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTTGTTCTGAGGGAGGAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGTGGAGGCGCTGGGGCCCGGATTCCTGGGTCCGAGGGAGGAGGGAGCTAGGGGCCCAGATCCCTGGGTCTGAGGGAGGAAGGGCTGGGCGTCTGGACTGCTGGGTCTGAGAAAGGAGGAGCTGAGGCCTGGATTCCTGGGTCTGAGGGAGGAGGTGCTGGGGCCTGGGCTCCTGGGTCTGAGGGAGGAGGGGCCGGGGGCCTGGATTCCTGGGTCTGAGGGAGAAGGGGCTGGGGCCGAGATTGCTGGGTCTGAGGAAGGAGGAAGCTGAGGAGTTCCTGGTTCTGGAGGAACGGGAAGCTGGGAGCCCTGATTCCTTCTCTAAGGGAAAAGGGAATTGAGGTCCCAGATTAAAAGTTTTCTGTCCTCCCCTCCCAGTATGGGGGGACCCAGTACAGCCTCGTGGTGTTCAACACAGTGGACTGCGCTCCCGAGTCCTACGTACAATGTCACGCTCCCACCAGCAGCGCCTATGAGTTTGTCACCTGGCTCGATGGCATTAAGTGAGCTTTCCCCCACTTGGGGTGGGTTGCTGGTCCCTGTGAGGGGCCGTGAATGAGTGATGGCTTGGGGTGGTTGGTGTCCCCGTGAGAGGCTGTGAATAAGTGATGGCTTGGGGTGGTTGGTGTCCCCGTGAGGGGCTGTGAATAAGTAATGGCTTGGGGTGGTTGGGGTCCCTGCGAGGGGCCGTGAATGAGCGATGGCTTGGGTTTGAGCTGCAGGAAACATCTCATACATTAAGGGATTGAAAGGACTTTGAGGGTGATTGTGTTTTTGTCAGAAGTCACTTTTGTGGTGGCTTCTGTGTGCTCAGCAATGTTGCCATCAGTTTAGAAGTAGGAAAAACCTTCCCATTCAGGGAGGCCTGGCTGAGCTCCAGCAGCCACCTTGTACTCCCTGTGTGATTGTCCCCTTTCTGTCCTCTCTTTTTCCGTCTACCCCTGTCCTCCTTTTCCAGATGGGTACATTGTAGCCTCAGTGCAGGGGGATGGGTCAGAGCCAGGATAGATCCCTCTGTGGCTTGGGTCAGAATTTTTTTTTTTTTTTTTGAAACAGTGTCTTGCTCTGTCTCCCAGGCTTGTAGTGCAGTGGCACAGTCGTGGCTCACTGCAACCTGTACCTCCTGGGTTGAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACGCCACTATGCCCAGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGCCACTGTTGCGGGATTCAGGACGACAGGAGAGAGCCCTCGGGTTAAAGCAGGAGAATCTTTCATTGAGTGCACTCAGGCCCAAGCCGACTCACGTCCAAAGACGGCCCAGAACAAAGGTAGCACTTGACTTTTATACACACTTCACAAAAGGGGGTGGGCTAGCTTGAAGCAAGCTTACAGTGGCGTGACAGCAGGGATACAGAGGCAGAACAAAAACAGTTAATCAAATTGTTGTAACAGGTTTATAACTCAGGATTGCACATAACCGTTGCTATGCAACCCAGATGTCCCTTATCTAGGTTAGCCTAGGCACGGGCTTATCCCATAACCTTCACTGTGGTGCCCAGGCAGCTCAGGCTTCTCATGACCTTCGCTGTACTTCT
Task1_train_27463
Mutation context: Chromosome 19, Gene MED25 (mediator complex subunit 25). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Charcot-Marie-Tooth disease type 2
TGGGTTGGTTCCAGTCTTGATGGACACGGTTGGGCCTGTAGACGTTCATTCACTTAGCCTACATTTCCTGAGGCCTCACATGTGCCCCGCTGTGGTGGGCAAGCCTGGGGGTAAGAGAGGACTCAGACCCCATCCCCGCCTGTGGGAGAGGTAGGATCAGAGACCACACTTCAGGGGGACAGGGCCCTCAAGACCCTCAGAGGGGTGCTCGGTCTCCACACACGTCCCCTGCAGCAAAGGTCAGCCTCTCACGACCACGTGACCGGAATAATGGTGGCAACCACAGCTGCCCTTGAGGAGAGGCCATCCCCGGGCCACAACCCATGTGGGACGGATGCTGCGACGCGACTGCAGATCAGGCGGAGGAGAAACGAGAGTCTGTGTGTGTTAGTTTCCCAGGCTGCCGTAGCAAAGTATGAGAAACTGGCCAGAAGAATGGAAATTGATGTCTCAGGGTTCTGGAGGCTGGAAGTCCAAAATCCAGGTGGTAGGGCCAGGCTGTCTCTGAAATCTTACAGGGGAAGGGCCCTTCTGCCTTTCCTGGTGCCTGCTGAGGCTGCATCACCCGTCCTCACATGGCCTCTCCCTGTGTCTCTCTGTGTCCTTGTGTCTTCCCTCTGTGTGTGTGTCCGTGTCCACGTTTCTCCTTTTCACAGACACCAGCCATAGTGGATTAGGGCCCGCAATTTAACTCGATTACCTGTGTAAAGATCTTTCCAAATTAGGTCACCTTCTGAGGTACTGGGGCTTAGGACCTCAACCTGTCTTTTTGAAGGGGGCACACTTGAACCCATAAGACTAGGAGGACAGAGGAGGCCCCCGTCTCTGGCTGGGAAGGTGAAGTGGGGCCAGGACTGATTTGGAGCAGACAGCCCAGAGAGGGGAGGGGACAGCAGGAGGCTGGGCATGGAGTCAGTCACTCCAGGGTTGGAGTCAGCACAGGATCCTAGGCTTGGGGTCCCCAGCCCTTTCCCATTCCCTCCCAGTCCTCATGATTAAAGACAACAAATGTCGGCCGGGTGTGGTGGCTCACTCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCAAGTGGATCATGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCCAGGAAGCGGAGCTTGCAGTGAACTGAGATCATGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAACACAGACAGCAAATGTCCCCTGTCCTGTCTGGGACTGGTGCTGTGCTAGCACCAGGGATTGGGTAGGGAACTCAGCAGGGTCCCCGTCATCCCAAGGTGCATAGCCCAGGATAGAGTGGGGGACAGCATGGGAGCAGGCTCTTCAAGCATAGCCTGGGGATGGGGATGATGGCAACCCTGGGGGCTGACCGCTCTGCCCCTGCAGGTTCATGGGCGGGGGTGGTGAGAGCTGCAGCCTCATCGCGGAAGGACTCAGCACAGCCTTGCAGCTGTTTGATGACTTCAAGAAGATGCGCGAGCAGATGTGAGTGCCCCCTCCACCCAGGCCGGGCCGGTCTCTCTCTGCCTGGCCTGGAACCACTTTGCCTGTCGAGTGGTTCTACCTCCAGCCTCACCCTGTAGGGCATGGGCTCTGTGTCCCCAAGCACGCTGAGCCAGGAGGCTGCAGGTGTGTCCTTGGGGGACGCCTGGCCAGTGCCCGGTCTCAGCATCCCCATCAGGAAGCAGTGCCAACTCTGGGTGTCACTCCTGCCTGCCCTGCCTGCTGGGTGACGTAGAGCACATCCCAGAACCTCTTGGAGCCTCAGTGTTCTCAGCTGTAAAGTAGGGGCGTTGCTTCTGATTCCATGTGAGGCGGAATATGTGCATCTCCGCTGGTGCTGGGTCTGGGTTCCTTCTCAGGGCCTCTGTTGCTGCTGGCTCCATGTCTTCTCTCTTTCCTGGTAGTGGCCAGACGCACCGGGTCTGCCTCCTCATCTGCAACTCACCCCCATACTTGTTGCCTGCTGTTGAGAGCACCACGTACTCTGGATGCACAACTGAGAATCTTGTGCAGCAGATTGGGGAGGTGAGGACTCCAGGGTCTGAGGGACGAGGGTCTGGGGGCCCGGAGTCTTGGGTCTGAGGCAGGAGGCACTGAGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGCACTGGGGGCCTGGACTCTTGGGTCTAAGCGGGGAGGCACTGGGGGCCTGGACTCAGACACAGAATAGTCACAGACTGGTGACCAGCTTTGCTTACTCTCTTTTCGAAACAGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCCCACTGCAGCCTCTGCCTCCAGGGTTCAAGCAATTCTCATGTTTCAGCCTCCCGAGTAGCTGGGATTATAGACGCCCGCCACCACGCCCAGCTGATTTTTGTATCTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGACTGCTCTCAAACTCCTGGCCTCATGTGATCTGCCTGACTCGGTCTCACAAAATCCTGGGATTACAGACGTGAGCCTCCACACCTGGCCCACTTAGTCTTACTGACAAAACTAGAACCCAGAGTCTCCCGGGGCAGGTGATACCTGGTTTCAGGGTCTCCTGCCTCAAAGCCCAATGGGAATTGTGGTTGTAGGGCTGGTGCCGTCCAGCCACACAGCAGTTGTGGTAGGTTGGGGGCCGGCCCCAACACCCTTATGGAGGGGGCCCGTCATGACTGCTCGGCCCCTCTCCTACAGCGGGGGATCCACTTCTCCATTGTGTCTCCCCGGAAGCTGCCTGCGCTTCGGCTTCTGTTTGAGAAGGCAGCCCCCCCGGCCTTGCTGGAGCCGCTGCAGCCTCCGACAGATGTGAGCCAGGACCCGAGGCACATGGTGCTGGTTCGGGGACTCGTGCTGCCTGGTGAGGCCTGGGCACCGTGCGCGGGGATGGGGGCTCGACGTGTTTCCCCAGCTCCCTCTGACTTGGATTTTGGATTTCTCTCCTTTCTCTGCATCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGTGGCTCAGCCCCAGGCCCCCTCCAGTCAAAGCAGCCAGTCCCCCTGCCTCCCGCCGCACCCTCAGGTGCCACTCTCTCAGCAGCCCCCCAGCAGCCTCTGCCCCCCGTCCCCCCGCAGTACCAGGTATGGATATTTCCGGGAAGGGACATGCTTCTGGGGACTTGCTGGAGCCCTGGCCCCTGGGGAGAAATCTAGTTGCATGTTGGAGCTTGTGGGATGATGGGAGTCCCATGGGACATTGGGAAGGTGGGACTCTTGGGGCCATGGAAGCTCATGTGCTGTGTGATGGGTGTTGTGAGCTAAGCTATCCCAGCTGGTGCCTCATGGGGCCATGGGTGGTGTGACCTCGTGGGATACCAGGACTGGGGGGCCATGGTCCTCACCAGTCCCTTCCCTTCTTCCCTTCTACCCACAGGTTCCCGGGAACCTGAGTGCAGCTCAGGTGGCCGCGCAGAATGCAGTGGAGGCTGCCAAGAACCAGAAGGCTGGGCTGGGCCCTCGCTGTGAGTCCTGGAGTGAGGATGAAGGGCGGGCAGGGGCCAGGCAGGCCTCTCTCCACACACTTGTTCCCCACTTCTTCCCTTGGTCTCTCCCACAGTCTCGCCCATCACCCCTCTCCAACAAGCTGCTCCCGGAGTGGGTCCCCCCTTCAGCCAGGCCCCAGCTCCCCAACTACCCCCAGGACCCCCTGGCGCCCCCAAGCCACCACCTGCTTCCCAGCCCAGTCTGGTCTCCACTGTGGCCCCTGGCTCCGGCCTGGCTCCCACGGCACAGCCCGGGGCACCGTCCATGGTAGGTGCCTGCACGCCTCCTGCCCCTGCTCCTTCCTCCTGCTGTCCACAGCTAGGACAGTTAGAGGATGAGTCATTTGCCTTCCAGGGGGATGTGGCTCTCGTGGTTCTGGGGCTTTGGGGGCTCGTGGTGTGTGTGCTGCA
TGGGTTGGTTCCAGTCTTGATGGACACGGTTGGGCCTGTAGACGTTCATTCACTTAGCCTACATTTCCTGAGGCCTCACATGTGCCCCGCTGTGGTGGGCAAGCCTGGGGGTAAGAGAGGACTCAGACCCCATCCCCGCCTGTGGGAGAGGTAGGATCAGAGACCACACTTCAGGGGGACAGGGCCCTCAAGACCCTCAGAGGGGTGCTCGGTCTCCACACACGTCCCCTGCAGCAAAGGTCAGCCTCTCACGACCACGTGACCGGAATAATGGTGGCAACCACAGCTGCCCTTGAGGAGAGGCCATCCCCGGGCCACAACCCATGTGGGACGGATGCTGCGACGCGACTGCAGATCAGGCGGAGGAGAAACGAGAGTCTGTGTGTGTTAGTTTCCCAGGCTGCCGTAGCAAAGTATGAGAAACTGGCCAGAAGAATGGAAATTGATGTCTCAGGGTTCTGGAGGCTGGAAGTCCAAAATCCAGGTGGTAGGGCCAGGCTGTCTCTGAAATCTTACAGGGGAAGGGCCCTTCTGCCTTTCCTGGTGCCTGCTGAGGCTGCATCACCCGTCCTCACATGGCCTCTCCCTGTGTCTCTCTGTGTCCTTGTGTCTTCCCTCTGTGTGTGTGTCCGTGTCCACGTTTCTCCTTTTCACAGACACCAGCCATAGTGGATTAGGGCCCGCAATTTAACTCGATTACCTGTGTAAAGATCTTTCCAAATTAGGTCACCTTCTGAGGTACTGGGGCTTAGGACCTCAACCTGTCTTTTTGAAGGGGGCACACTTGAACCCATAAGACTAGGAGGACAGAGGAGGCCCCCGTCTCTGGCTGGGAAGGTGAAGTGGGGCCAGGACTGATTTGGAGCAGACAGCCCAGAGAGGGGAGGGGACAGCAGGAGGCTGGGCATGGAGTCAGTCACTCCAGGGTTGGAGTCAGCACAGGATCCTAGGCTTGGGGTCCCCAGCCCTTTCCCATTCCCTCCCAGTCCTCATGATTAAAGACAACAAATGTCGGCCGGGTGTGGTGGCTCACTCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCAAGTGGATCATGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCCAGGAAGCGGAGCTTGCAGTGAACTGAGATCATGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAACACAGACAGCAAATGTCCCCTGTCCTGTCTGGGACTGGTGCTGTGCTAGCACCAGGGATTGGGTAGGGAACTCAGCAGGGTCCCCGTCATCCCAAGGTGCATAGCCCAGGATAGAGTGGGGGACAGCATGGGAGCAGGCTCTTCAAGCATAGCCTGGGGATGGGGATGATGGCAACCCTGGGGGCTGACCGCTCTGCCCCTGCAGGTTCATGGGCGGGGGTGGTGAGAGCTGCAGCCTCATCGCGGAAGGACTCAGCACAGCCTTGCAGCTGTTTGATGACTTCAAGAAGATGCGCGAGCAGATGTGAGTGCCCCCTCCACCCAGGCCGGGCCGGTCTCTCTCTGCCTGGCCTGGAACCACTTTGCCTGTCGAGTGGTTCTACCTCCAGCCTCACCCTGTAGGGCATGGGCTCTGTGTCCCCAAGCACGCTGAGCCAGGAGGCTGCAGGTGTGTCCTTGGGGGACGCCTGGCCAGTGCCCGGTCTCAGCATCCCCATCAGGAAGCAGTGCCAACTCTGGGTGTCACTCCTGCCTGCCCTGCCTGCTGGGTGACGTAGAGCACATCCCAGAACCTCTTGGAGCCTCAGTGTTCTCAGCTGTAAAGTAGGGGCGTTGCTTCTGATTCCATGTGAGGCGGAATATGTGCATCTCCGCTGGTGCTGGGTCTGGGTTCCTTCTCAGGGCCTCTGTTGCTGCTGGCTCCATGTCTTCTCTCTTTCCTGGTAGTGGCCAGACGCACTGGGTCTGCCTCCTCATCTGCAACTCACCCCCATACTTGTTGCCTGCTGTTGAGAGCACCACGTACTCTGGATGCACAACTGAGAATCTTGTGCAGCAGATTGGGGAGGTGAGGACTCCAGGGTCTGAGGGACGAGGGTCTGGGGGCCCGGAGTCTTGGGTCTGAGGCAGGAGGCACTGAGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGCACTGGGGGCCTGGACTCTTGGGTCTAAGCGGGGAGGCACTGGGGGCCTGGACTCAGACACAGAATAGTCACAGACTGGTGACCAGCTTTGCTTACTCTCTTTTCGAAACAGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCCCACTGCAGCCTCTGCCTCCAGGGTTCAAGCAATTCTCATGTTTCAGCCTCCCGAGTAGCTGGGATTATAGACGCCCGCCACCACGCCCAGCTGATTTTTGTATCTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGACTGCTCTCAAACTCCTGGCCTCATGTGATCTGCCTGACTCGGTCTCACAAAATCCTGGGATTACAGACGTGAGCCTCCACACCTGGCCCACTTAGTCTTACTGACAAAACTAGAACCCAGAGTCTCCCGGGGCAGGTGATACCTGGTTTCAGGGTCTCCTGCCTCAAAGCCCAATGGGAATTGTGGTTGTAGGGCTGGTGCCGTCCAGCCACACAGCAGTTGTGGTAGGTTGGGGGCCGGCCCCAACACCCTTATGGAGGGGGCCCGTCATGACTGCTCGGCCCCTCTCCTACAGCGGGGGATCCACTTCTCCATTGTGTCTCCCCGGAAGCTGCCTGCGCTTCGGCTTCTGTTTGAGAAGGCAGCCCCCCCGGCCTTGCTGGAGCCGCTGCAGCCTCCGACAGATGTGAGCCAGGACCCGAGGCACATGGTGCTGGTTCGGGGACTCGTGCTGCCTGGTGAGGCCTGGGCACCGTGCGCGGGGATGGGGGCTCGACGTGTTTCCCCAGCTCCCTCTGACTTGGATTTTGGATTTCTCTCCTTTCTCTGCATCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGTGGCTCAGCCCCAGGCCCCCTCCAGTCAAAGCAGCCAGTCCCCCTGCCTCCCGCCGCACCCTCAGGTGCCACTCTCTCAGCAGCCCCCCAGCAGCCTCTGCCCCCCGTCCCCCCGCAGTACCAGGTATGGATATTTCCGGGAAGGGACATGCTTCTGGGGACTTGCTGGAGCCCTGGCCCCTGGGGAGAAATCTAGTTGCATGTTGGAGCTTGTGGGATGATGGGAGTCCCATGGGACATTGGGAAGGTGGGACTCTTGGGGCCATGGAAGCTCATGTGCTGTGTGATGGGTGTTGTGAGCTAAGCTATCCCAGCTGGTGCCTCATGGGGCCATGGGTGGTGTGACCTCGTGGGATACCAGGACTGGGGGGCCATGGTCCTCACCAGTCCCTTCCCTTCTTCCCTTCTACCCACAGGTTCCCGGGAACCTGAGTGCAGCTCAGGTGGCCGCGCAGAATGCAGTGGAGGCTGCCAAGAACCAGAAGGCTGGGCTGGGCCCTCGCTGTGAGTCCTGGAGTGAGGATGAAGGGCGGGCAGGGGCCAGGCAGGCCTCTCTCCACACACTTGTTCCCCACTTCTTCCCTTGGTCTCTCCCACAGTCTCGCCCATCACCCCTCTCCAACAAGCTGCTCCCGGAGTGGGTCCCCCCTTCAGCCAGGCCCCAGCTCCCCAACTACCCCCAGGACCCCCTGGCGCCCCCAAGCCACCACCTGCTTCCCAGCCCAGTCTGGTCTCCACTGTGGCCCCTGGCTCCGGCCTGGCTCCCACGGCACAGCCCGGGGCACCGTCCATGGTAGGTGCCTGCACGCCTCCTGCCCCTGCTCCTTCCTCCTGCTGTCCACAGCTAGGACAGTTAGAGGATGAGTCATTTGCCTTCCAGGGGGATGTGGCTCTCGTGGTTCTGGGGCTTTGGGGGCTCGTGGTGTGTGTGCTGCA
Task1_train_27464
A variant affecting Chromosome 19, within the gene MED25 (mediator complex subunit 25), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
TGGGTTGGTTCCAGTCTTGATGGACACGGTTGGGCCTGTAGACGTTCATTCACTTAGCCTACATTTCCTGAGGCCTCACATGTGCCCCGCTGTGGTGGGCAAGCCTGGGGGTAAGAGAGGACTCAGACCCCATCCCCGCCTGTGGGAGAGGTAGGATCAGAGACCACACTTCAGGGGGACAGGGCCCTCAAGACCCTCAGAGGGGTGCTCGGTCTCCACACACGTCCCCTGCAGCAAAGGTCAGCCTCTCACGACCACGTGACCGGAATAATGGTGGCAACCACAGCTGCCCTTGAGGAGAGGCCATCCCCGGGCCACAACCCATGTGGGACGGATGCTGCGACGCGACTGCAGATCAGGCGGAGGAGAAACGAGAGTCTGTGTGTGTTAGTTTCCCAGGCTGCCGTAGCAAAGTATGAGAAACTGGCCAGAAGAATGGAAATTGATGTCTCAGGGTTCTGGAGGCTGGAAGTCCAAAATCCAGGTGGTAGGGCCAGGCTGTCTCTGAAATCTTACAGGGGAAGGGCCCTTCTGCCTTTCCTGGTGCCTGCTGAGGCTGCATCACCCGTCCTCACATGGCCTCTCCCTGTGTCTCTCTGTGTCCTTGTGTCTTCCCTCTGTGTGTGTGTCCGTGTCCACGTTTCTCCTTTTCACAGACACCAGCCATAGTGGATTAGGGCCCGCAATTTAACTCGATTACCTGTGTAAAGATCTTTCCAAATTAGGTCACCTTCTGAGGTACTGGGGCTTAGGACCTCAACCTGTCTTTTTGAAGGGGGCACACTTGAACCCATAAGACTAGGAGGACAGAGGAGGCCCCCGTCTCTGGCTGGGAAGGTGAAGTGGGGCCAGGACTGATTTGGAGCAGACAGCCCAGAGAGGGGAGGGGACAGCAGGAGGCTGGGCATGGAGTCAGTCACTCCAGGGTTGGAGTCAGCACAGGATCCTAGGCTTGGGGTCCCCAGCCCTTTCCCATTCCCTCCCAGTCCTCATGATTAAAGACAACAAATGTCGGCCGGGTGTGGTGGCTCACTCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCAAGTGGATCATGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCCAGGAAGCGGAGCTTGCAGTGAACTGAGATCATGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAACACAGACAGCAAATGTCCCCTGTCCTGTCTGGGACTGGTGCTGTGCTAGCACCAGGGATTGGGTAGGGAACTCAGCAGGGTCCCCGTCATCCCAAGGTGCATAGCCCAGGATAGAGTGGGGGACAGCATGGGAGCAGGCTCTTCAAGCATAGCCTGGGGATGGGGATGATGGCAACCCTGGGGGCTGACCGCTCTGCCCCTGCAGGTTCATGGGCGGGGGTGGTGAGAGCTGCAGCCTCATCGCGGAAGGACTCAGCACAGCCTTGCAGCTGTTTGATGACTTCAAGAAGATGCGCGAGCAGATGTGAGTGCCCCCTCCACCCAGGCCGGGCCGGTCTCTCTCTGCCTGGCCTGGAACCACTTTGCCTGTCGAGTGGTTCTACCTCCAGCCTCACCCTGTAGGGCATGGGCTCTGTGTCCCCAAGCACGCTGAGCCAGGAGGCTGCAGGTGTGTCCTTGGGGGACGCCTGGCCAGTGCCCGGTCTCAGCATCCCCATCAGGAAGCAGTGCCAACTCTGGGTGTCACTCCTGCCTGCCCTGCCTGCTGGGTGACGTAGAGCACATCCCAGAACCTCTTGGAGCCTCAGTGTTCTCAGCTGTAAAGTAGGGGCGTTGCTTCTGATTCCATGTGAGGCGGAATATGTGCATCTCCGCTGGTGCTGGGTCTGGGTTCCTTCTCAGGGCCTCTGTTGCTGCTGGCTCCATGTCTTCTCTCTTTCCTGGTAGTGGCCAGACGCACCGGGTCTGCCTCCTCATCTGCAACTCACCCCCATACTTGTTGCCTGCTGTTGAGAGCACCACGTACTCTGGATGCACAACTGAGAATCTTGTGCAGCAGATTGGGGAGGTGAGGACTCCAGGGTCTGAGGGACGAGGGTCTGGGGGCCCGGAGTCTTGGGTCTGAGGCAGGAGGCACTGAGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGCACTGGGGGCCTGGACTCTTGGGTCTAAGCGGGGAGGCACTGGGGGCCTGGACTCAGACACAGAATAGTCACAGACTGGTGACCAGCTTTGCTTACTCTCTTTTCGAAACAGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCCCACTGCAGCCTCTGCCTCCAGGGTTCAAGCAATTCTCATGTTTCAGCCTCCCGAGTAGCTGGGATTATAGACGCCCGCCACCACGCCCAGCTGATTTTTGTATCTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGACTGCTCTCAAACTCCTGGCCTCATGTGATCTGCCTGACTCGGTCTCACAAAATCCTGGGATTACAGACGTGAGCCTCCACACCTGGCCCACTTAGTCTTACTGACAAAACTAGAACCCAGAGTCTCCCGGGGCAGGTGATACCTGGTTTCAGGGTCTCCTGCCTCAAAGCCCAATGGGAATTGTGGTTGTAGGGCTGGTGCCGTCCAGCCACACAGCAGTTGTGGTAGGTTGGGGGCCGGCCCCAACACCCTTATGGAGGGGGCCCGTCATGACTGCTCGGCCCCTCTCCTACAGCGGGGGATCCACTTCTCCATTGTGTCTCCCCGGAAGCTGCCTGCGCTTCGGCTTCTGTTTGAGAAGGCAGCCCCCCCGGCCTTGCTGGAGCCGCTGCAGCCTCCGACAGATGTGAGCCAGGACCCGAGGCACATGGTGCTGGTTCGGGGACTCGTGCTGCCTGGTGAGGCCTGGGCACCGTGCGCGGGGATGGGGGCTCGACGTGTTTCCCCAGCTCCCTCTGACTTGGATTTTGGATTTCTCTCCTTTCTCTGCATCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGTGGCTCAGCCCCAGGCCCCCTCCAGTCAAAGCAGCCAGTCCCCCTGCCTCCCGCCGCACCCTCAGGTGCCACTCTCTCAGCAGCCCCCCAGCAGCCTCTGCCCCCCGTCCCCCCGCAGTACCAGGTATGGATATTTCCGGGAAGGGACATGCTTCTGGGGACTTGCTGGAGCCCTGGCCCCTGGGGAGAAATCTAGTTGCATGTTGGAGCTTGTGGGATGATGGGAGTCCCATGGGACATTGGGAAGGTGGGACTCTTGGGGCCATGGAAGCTCATGTGCTGTGTGATGGGTGTTGTGAGCTAAGCTATCCCAGCTGGTGCCTCATGGGGCCATGGGTGGTGTGACCTCGTGGGATACCAGGACTGGGGGGCCATGGTCCTCACCAGTCCCTTCCCTTCTTCCCTTCTACCCACAGGTTCCCGGGAACCTGAGTGCAGCTCAGGTGGCCGCGCAGAATGCAGTGGAGGCTGCCAAGAACCAGAAGGCTGGGCTGGGCCCTCGCTGTGAGTCCTGGAGTGAGGATGAAGGGCGGGCAGGGGCCAGGCAGGCCTCTCTCCACACACTTGTTCCCCACTTCTTCCCTTGGTCTCTCCCACAGTCTCGCCCATCACCCCTCTCCAACAAGCTGCTCCCGGAGTGGGTCCCCCCTTCAGCCAGGCCCCAGCTCCCCAACTACCCCCAGGACCCCCTGGCGCCCCCAAGCCACCACCTGCTTCCCAGCCCAGTCTGGTCTCCACTGTGGCCCCTGGCTCCGGCCTGGCTCCCACGGCACAGCCCGGGGCACCGTCCATGGTAGGTGCCTGCACGCCTCCTGCCCCTGCTCCTTCCTCCTGCTGTCCACAGCTAGGACAGTTAGAGGATGAGTCATTTGCCTTCCAGGGGGATGTGGCTCTCGTGGTTCTGGGGCTTTGGGGGCTCGTGGTGTGTGTGCTGCA
TGGGTTGGTTCCAGTCTTGATGGACACGGTTGGGCCTGTAGACGTTCATTCACTTAGCCTACATTTCCTGAGGCCTCACATGTGCCCCGCTGTGGTGGGCAAGCCTGGGGGTAAGAGAGGACTCAGACCCCATCCCCGCCTGTGGGAGAGGTAGGATCAGAGACCACACTTCAGGGGGACAGGGCCCTCAAGACCCTCAGAGGGGTGCTCGGTCTCCACACACGTCCCCTGCAGCAAAGGTCAGCCTCTCACGACCACGTGACCGGAATAATGGTGGCAACCACAGCTGCCCTTGAGGAGAGGCCATCCCCGGGCCACAACCCATGTGGGACGGATGCTGCGACGCGACTGCAGATCAGGCGGAGGAGAAACGAGAGTCTGTGTGTGTTAGTTTCCCAGGCTGCCGTAGCAAAGTATGAGAAACTGGCCAGAAGAATGGAAATTGATGTCTCAGGGTTCTGGAGGCTGGAAGTCCAAAATCCAGGTGGTAGGGCCAGGCTGTCTCTGAAATCTTACAGGGGAAGGGCCCTTCTGCCTTTCCTGGTGCCTGCTGAGGCTGCATCACCCGTCCTCACATGGCCTCTCCCTGTGTCTCTCTGTGTCCTTGTGTCTTCCCTCTGTGTGTGTGTCCGTGTCCACGTTTCTCCTTTTCACAGACACCAGCCATAGTGGATTAGGGCCCGCAATTTAACTCGATTACCTGTGTAAAGATCTTTCCAAATTAGGTCACCTTCTGAGGTACTGGGGCTTAGGACCTCAACCTGTCTTTTTGAAGGGGGCACACTTGAACCCATAAGACTAGGAGGACAGAGGAGGCCCCCGTCTCTGGCTGGGAAGGTGAAGTGGGGCCAGGACTGATTTGGAGCAGACAGCCCAGAGAGGGGAGGGGACAGCAGGAGGCTGGGCATGGAGTCAGTCACTCCAGGGTTGGAGTCAGCACAGGATCCTAGGCTTGGGGTCCCCAGCCCTTTCCCATTCCCTCCCAGTCCTCATGATTAAAGACAACAAATGTCGGCCGGGTGTGGTGGCTCACTCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCAAGTGGATCATGAGGTCAGGAGATGGAGACCATCCTGGCTAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCCAGGAAGCGGAGCTTGCAGTGAACTGAGATCATGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAACACAGACAGCAAATGTCCCCTGTCCTGTCTGGGACTGGTGCTGTGCTAGCACCAGGGATTGGGTAGGGAACTCAGCAGGGTCCCCGTCATCCCAAGGTGCATAGCCCAGGATAGAGTGGGGGACAGCATGGGAGCAGGCTCTTCAAGCATAGCCTGGGGATGGGGATGATGGCAACCCTGGGGGCTGACCGCTCTGCCCCTGCAGGTTCATGGGCGGGGGTGGTGAGAGCTGCAGCCTCATCGCGGAAGGACTCAGCACAGCCTTGCAGCTGTTTGATGACTTCAAGAAGATGCGCGAGCAGATGTGAGTGCCCCCTCCACCCAGGCCGGGCCGGTCTCTCTCTGCCTGGCCTGGAACCACTTTGCCTGTCGAGTGGTTCTACCTCCAGCCTCACCCTGTAGGGCATGGGCTCTGTGTCCCCAAGCACGCTGAGCCAGGAGGCTGCAGGTGTGTCCTTGGGGGACGCCTGGCCAGTGCCCGGTCTCAGCATCCCCATCAGGAAGCAGTGCCAACTCTGGGTGTCACTCCTGCCTGCCCTGCCTGCTGGGTGACGTAGAGCACATCCCAGAACCTCTTGGAGCCTCAGTGTTCTCAGCTGTAAAGTAGGGGCGTTGCTTCTGATTCCATGTGAGGCGGAATATGTGCATCTCCGCTGGTGCTGGGTCTGGGTTCCTTCTCAGGGCCTCTGTTGCTGCTGGCTCCATGTCTTCTCTCTTTCCTGGTAGTGGCCAGACGCACTGGGTCTGCCTCCTCATCTGCAACTCACCCCCATACTTGTTGCCTGCTGTTGAGAGCACCACGTACTCTGGATGCACAACTGAGAATCTTGTGCAGCAGATTGGGGAGGTGAGGACTCCAGGGTCTGAGGGACGAGGGTCTGGGGGCCCGGAGTCTTGGGTCTGAGGCAGGAGGCACTGAGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGCACTGGGGGCCTGGACTCTTGGGTCTAAGCGGGGAGGCACTGGGGGCCTGGACTCAGACACAGAATAGTCACAGACTGGTGACCAGCTTTGCTTACTCTCTTTTCGAAACAGTCTGGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCCCACTGCAGCCTCTGCCTCCAGGGTTCAAGCAATTCTCATGTTTCAGCCTCCCGAGTAGCTGGGATTATAGACGCCCGCCACCACGCCCAGCTGATTTTTGTATCTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGACTGCTCTCAAACTCCTGGCCTCATGTGATCTGCCTGACTCGGTCTCACAAAATCCTGGGATTACAGACGTGAGCCTCCACACCTGGCCCACTTAGTCTTACTGACAAAACTAGAACCCAGAGTCTCCCGGGGCAGGTGATACCTGGTTTCAGGGTCTCCTGCCTCAAAGCCCAATGGGAATTGTGGTTGTAGGGCTGGTGCCGTCCAGCCACACAGCAGTTGTGGTAGGTTGGGGGCCGGCCCCAACACCCTTATGGAGGGGGCCCGTCATGACTGCTCGGCCCCTCTCCTACAGCGGGGGATCCACTTCTCCATTGTGTCTCCCCGGAAGCTGCCTGCGCTTCGGCTTCTGTTTGAGAAGGCAGCCCCCCCGGCCTTGCTGGAGCCGCTGCAGCCTCCGACAGATGTGAGCCAGGACCCGAGGCACATGGTGCTGGTTCGGGGACTCGTGCTGCCTGGTGAGGCCTGGGCACCGTGCGCGGGGATGGGGGCTCGACGTGTTTCCCCAGCTCCCTCTGACTTGGATTTTGGATTTCTCTCCTTTCTCTGCATCTTGAATCCCTTCTCTCTGGGGTTGGCCATCCCTCCTGCTCTCAGTTGGGGGTGGCTCAGCCCCAGGCCCCCTCCAGTCAAAGCAGCCAGTCCCCCTGCCTCCCGCCGCACCCTCAGGTGCCACTCTCTCAGCAGCCCCCCAGCAGCCTCTGCCCCCCGTCCCCCCGCAGTACCAGGTATGGATATTTCCGGGAAGGGACATGCTTCTGGGGACTTGCTGGAGCCCTGGCCCCTGGGGAGAAATCTAGTTGCATGTTGGAGCTTGTGGGATGATGGGAGTCCCATGGGACATTGGGAAGGTGGGACTCTTGGGGCCATGGAAGCTCATGTGCTGTGTGATGGGTGTTGTGAGCTAAGCTATCCCAGCTGGTGCCTCATGGGGCCATGGGTGGTGTGACCTCGTGGGATACCAGGACTGGGGGGCCATGGTCCTCACCAGTCCCTTCCCTTCTTCCCTTCTACCCACAGGTTCCCGGGAACCTGAGTGCAGCTCAGGTGGCCGCGCAGAATGCAGTGGAGGCTGCCAAGAACCAGAAGGCTGGGCTGGGCCCTCGCTGTGAGTCCTGGAGTGAGGATGAAGGGCGGGCAGGGGCCAGGCAGGCCTCTCTCCACACACTTGTTCCCCACTTCTTCCCTTGGTCTCTCCCACAGTCTCGCCCATCACCCCTCTCCAACAAGCTGCTCCCGGAGTGGGTCCCCCCTTCAGCCAGGCCCCAGCTCCCCAACTACCCCCAGGACCCCCTGGCGCCCCCAAGCCACCACCTGCTTCCCAGCCCAGTCTGGTCTCCACTGTGGCCCCTGGCTCCGGCCTGGCTCCCACGGCACAGCCCGGGGCACCGTCCATGGTAGGTGCCTGCACGCCTCCTGCCCCTGCTCCTTCCTCCTGCTGTCCACAGCTAGGACAGTTAGAGGATGAGTCATTTGCCTTCCAGGGGGATGTGGCTCTCGTGGTTCTGGGGCTTTGGGGGCTCGTGGTGTGTGTGCTGCA
Task1_train_27465
The gene PNKP (polynucleotide kinase 3'-phosphatase) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Developmental and epileptic encephalopathy, 12
AGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGAT
AGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCAAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGAT
Task1_train_27466
A variant affecting Chromosome 19, within the gene PNKP (polynucleotide kinase 3'-phosphatase), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Inborn genetic diseases
AGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGAT
AGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCAAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGAT
Task1_train_27467
This alteration occurs within gene PNKP (polynucleotide kinase 3'-phosphatase) located on Chromosome 19. Is it associated with a disease or is it a benign variant?
Pathogenic; Microcephaly, seizures, and developmental delay
AGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGAT
AGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCAAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGAT
Task1_train_27468
This genomic variant is located on Chromosome 19, within the PNKP (polynucleotide kinase 3'-phosphatase) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Ataxia - oculomotor apraxia type 4
AGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGAT
AGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCAAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGAT
Task1_train_27469
This is a variant in PNKP (polynucleotide kinase 3'-phosphatase), located on Chromosome 19. Is this mutation a likely cause of disease or not?
Pathogenic; Abnormality of the nervous system
GCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGA
GCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTTCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGA
Task1_train_27470
A change on Chromosome 19 affects gene PNKP (polynucleotide kinase 3'-phosphatase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Developmental and epileptic encephalopathy, 12
GCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGA
GCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGACGGTCCCCACCCCTCTACGTTTCCCCAATAAAGCCTTTTAAAAACCTGCCTGCCTTCTCTGCTCACTGCCCGATGCCTTGCAGCCCCCTAGCTCTAAGGTGGCCCAGCAGGCTGGACAGCCCGGGAACTCACTGGGTCTGGCTCTCGGCTGTCCACACCCTCTTCCCCCCCGAATCTCCAGACCCGCAGGCCTTGGGTTCAAGTTCAGTGTCACAGAACCTGAGCTGGATTTTGTCCTCAGGGGTCACACCTGGCCTTGAGCCAGCCCCTCGGTTGAGGCTCGTGGGCTCACCAGCTGGCTCTCGGGGGGCCACACAGCGCCCTCCCTGTGTGTTCCCCGGCTAATGTCTAAAGTGCTCATGCCAGGTCCCAGCTGGACTCCCCTCGGTAGGGCCCCACCTTTTGTTACCTGAAAATGTCCTTAAAGCCTCCTCCATGTAAGAAACTGGCAGGCCTGGAGCCCCTCCCCCGTGGGGACCACCCTCCTTCCAGCAAAATGCCGGCCAAGCTCAAGGAGAAACAGCGTTTATTGTGGAGGGGAGCTGGGCGGGGCTCAGCCCTCGGAGAACTGGCAGTACAGCCGCCCCAGCCTCGGCTCCACCCATAGCCGGAACGGGATCTCCAGGATGGCAGAGAAGCCTTCAGCCAGCGTTGGGGCCTCGAACTGCTTCCTGGCAGTGGTGGGAACAGTGAGGGACAGCCTGGATCATGTGGCCCAGCCAGTGCCCCTGCCCCCTGCTATCCCCAACAGTACCTGTAGCCATACATGACCATGTCTGACACGGGGATATGAGAGGAGTCCGTCATCTCTCGAAACTGTGGGGAACATCAGAGGGGCGGCAGGCCCAGGGGTCAGGGGAGGAGGGGGGTCAGGGGGTGCAGCCCGGGGGGTGTCCGGGCTGAGCGGGCTCACCCGGTTGTTGTGGCGCGCCTGCTCCAGAGTGGCGGTGAAGAGGAAGCAGCGGCAGGGGACGCCCGCGGCTCGGGCACACTGGACGTACCTGTGGGGGAAGGAGCTGGATGTGCAGGCCCCGCCCACCCCGCCGCAGGCCACCTACGGCCCCGCGGTCACGCTACCTGGCGCGGCTCGCGGCGTCTGGGTTTGTGTTGTCGATGGCGACCCGTTTCCCTTGCTTCAGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAGACCCCGAGCGGGGACGGGGAGGCAATGATGGAGGAAAGCCGCCCCAAACCAGTTGAGAGGTGGAGATGGGAACTTTATAATAGATTTGGGGCGGCAAAAGCCTGGTCATACCCTGTTCACGTGGACATATCCGGCCGACACGAGGTGCTTCTTGAGAAAGGTGGACTTCCCGGCTGTGTGGGGGGCAGTGTCGGTGGGTGGCCTAGGACCCAGGCGGGGCTCAGGGCACGCGCACAGGAACAGGACACTTACCCCCAGGGAATCCCACTGCGACAACCACCTCCGGGCTGGCGCTCAGGAGGGCCCTGGACTCGGGGAGGCAGAGAGGCCCTGAGCGGGAGACAGTCCTCTGCGAGGGGCGGGGGACACGCGTGAGATGCCGTCCCCATCCCCGGGAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTTCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGA
Task1_train_27471
Consider a variant on Chromosome 19 in gene PNKP (polynucleotide kinase 3'-phosphatase). Determine its clinical classification and disease relevance.
Pathogenic; Microcephaly, seizures, and developmental delay
GAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAGCGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTCCTGTTACTCCTTATGACGCCAGCCCCAGGATTACAGTCTTTAAAATGGGGGTTAATGTCTTACCCAGCCTCCTTCTTCCCCTGGCCTTCACCACCTCGGTGGGCTAATAACCGTGAAAATAAAAGCAGGAGCAAAGCTTTGGGTGCTAACTGCATGTCAGGAACTATGCCACGTGCTTTTTTTATGGATTCAGCATCGTAGAGATGAGACACATGGGACTCAGAATGTGGTGGTAACAGCATTTGAACTCAAGTCTCTCTGGACATAAAAAATCCTCATCGTAATAGCTCCTACTGAGACAGTCATGGTCATTGCTGATTACTGGGTGGTCACTGTGGGTAACGCAGGAGCTGACATATATCATTCTCCCCACTGCTTAACTGCTTACAACGATCCCTGCATTTATCATTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCCCCAATCAGATTTTCCTAATGTACCCCTTCACTGACGGCTTGCAATTCCTCCCCAAATCCCATCCCCAGGCCTTGCTGGCCCTTGCAGAGGCACTGATACCTGTTTCACTGCCACTGTCCGGGTC
GAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAGGGAGGCGTCCCAGCCCACCCTCAGCAGCCTCCAGGCCCTTACCTCCCACAAAGATGCTGTCCCCGATGGATATGGGCGTGCCGTCGTTGGCCTACGGGAGACGGTAGTGAGGAGGCCCTTCCCACAAATGTCCCCCCGCAGCGGTAGCGGGTCCCTGGGGCTGCTTCGCCTGGTCTGTGCCCCACATCAGGAATCATCCCCCGACCTTTCATGTCCTCACTCTCCAGCCACTTTGCACCGTGCTCCTGGCCCCCTCCCCCCTCCGTGGTCTCTCCACACAGCCCCCTCCCTCCAGGTCTCCCGACTTCACCTCCTCCCGTTCCCCACGCGGCCACCGGAGGGCACCCACCCTGCTACAGCTCCAGCCTCCGGCGTGCCGGCGCCTCCCAGGTTCCCCCTCCCTCAGGGCAAAAGCGGGGCCCTCCCTGTGGCCCTGCCCTCTCCCCTCCCTCGCTTAGAGCCAGCCGCATGGGCCTCGCTGTCCCTAACTAGCCCAGGCTAGGGACTGCCTCAGGGCCTTTGCACTTGCTGTCACTCCCACAAGGGGGGGGACCGCTTTCCCCAGGTGTCCACCTGGCTCCCTCCTTTCCCTGCCTTAGGCCTTTTCCTCTGATGTCACCTCCTCAGAGGCCATCCCTGCCCACCACGGGTGATGCCTGCTTTCTCCAGCTCCCTCCCTCCTGCTGTTTTACACGCCAGTCTGCCCATCCGCCTAGAGTCACCGCCCTCGCCGTGAGGGCCCTGCTGGAGCAGGCCGTCCCGCTCACTGATACCTTCAGCTCAAGAATGCGCTAAACTTCAGAACAAATGCACACACAAACGAATGAACGAAGGAATGAACAGCTTCCCTACTACTCTGATGTAGAAAGTCTGAAAGCACTGGTCTCGTAAACCAACATCTAAGATGTCACAGCAAAAAACAGAAGGAGGGAGCGAGAGAGGACAGAGGAGTAAGGAGGCCCCAACCGGAGGCCGGGGAGCCCAGGAGTGAGGGGCTGGAGTGAGGAAAAGGAGGGGGGCCGGGCAGGCTGCAAGACTCACCTGCTCCTGCAGATGGTCCCACATGCCCGTCACCGGCTTCCGGTACAAGCCTGCGTGCGTGGCCACCAGCACCTGTGGATGGGAGGGGGCCACCAGCTTTAGCTCCCCCTCAAGCACCTACTGGATGCCACCCCAGCCCAGAATTTGTAGCTGATGATGGGTTCCTATCAGCATCACACTGCCTGAGGCCTCCGCCCCGCTTACCCTGGAGTCTAAAGCCCTCGCTCTGGATCTCTGTGCCCCCACATAGCTCCCAGCCTCCCTTCCAGCCATACCTGGAAGGGGACCCCCAGCTTCTCCACCACAGCCTCCACCTTGGCCTTGAACTCCTCGGCTGGCAGCTTCCCGCGCCCGATGCTCATCTGGTTGGTGAAGATCACCAGCTGGGGAGCAAAGGGTGTCACCAGACGCTCTGCTCACCAGGGCCTTGGTCTGACTGCGGTCGGACCGCCACGTGCACGTGCCCATGCAGACAGGCGGCTGCACATACCTTGTAGCCCTCGGCTTCCAGCTCTCGGAGCTTACGGGGAATCTCTGGGTACAAGATCCTACGGCAGGTATGAAGCGGCAGGGGTGACCCGGGGCCAGAGGTGGACTCCAGGCCTCACTCACTCCCTTGTTTTGCCTCTTATCACCTCCAGTCACTGGGGCCAGTGGGAAAGACCTTCCCAGAGCGTGTGGTGATGAACGTCCCGTCCAGATCAAAGCCAGCCACCTGGTGTCACCAAGGAAAGACAAACAGCAGCACTGTGATACCTCTGACCCTCCTCACTCACAGGCTGACTCACACCAACCCTGCCAGGCAGGGTGTTATCACTGCCATCTCACAGATGGGGAAACCGAGTCACAGAGCACCTCCATCTCAAGCATCCGTGATGCCTCTGAGTGGGGCCCGACATCTTAACCTTACTGTCTCCTGTTACTCCTTATGACGCCAGCCCCAGGATTACAGTCTTTAAAATGGGGGTTAATGTCTTACCCAGCCTCCTTCTTCCCCTGGCCTTCACCACCTCGGTGGGCTAATAACCGTGAAAATAAAAGCAGGAGCAAAGCTTTGGGTGCTAACTGCATGTCAGGAACTATGCCACGTGCTTTTTTTATGGATTCAGCATCGTAGAGATGAGACACATGGGACTCAGAATGTGGTGGTAACAGCATTTGAACTCAAGTCTCTCTGGACATAAAAAATCCTCATCGTAATAGCTCCTACTGAGACAGTCATGGTCATTGCTGATTACTGGGTGGTCACTGTGGGTAACGCAGGAGCTGACATATATCATTCTCCCCACTGCTTAACTGCTTACAACGATCCCTGCATTTATCATTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCCCCAATCAGATTTTCCTAATGTACCCCTTCACTGACGGCTTGCAATTCCTCCCCAAATCCCATCCCCAGGCCTTGCTGGCCCTTGCAGAGGCACTGATACCTGTTTCACTGCCACTGTCCGGGTC
Task1_train_27472
Consider a variant on Chromosome 19 in gene PNKP (polynucleotide kinase 3'-phosphatase). Determine its clinical classification and disease relevance.
Pathogenic; not provided
ATCATTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCCCCAATCAGATTTTCCTAATGTACCCCTTCACTGACGGCTTGCAATTCCTCCCCAAATCCCATCCCCAGGCCTTGCTGGCCCTTGCAGAGGCACTGATACCTGTTTCACTGCCACTGTCCGGGTCTCAGGATCTGCGACCAGCTCCACTGAGGATTGGAGGGGTGGAGTCAGGATTTGCATCCTTGTGTGATTGGGTCCCTCATTTCTGGGGAGTGTGGCCTGCTTCAGGCTATAGCATCCAGGGAGTAAGAGGCAGTTTATTTCTACATGGGATTGGCTCCTTGACATGCAGTAGCCAGATAGTGGCACTAGGATTGCCTGACACTGGTCCTTGCAAGGGACAGGGAGGTACTTTTCTCTACAGAATTGGTTTCCTCCTTGACAAAAAATGTGGCTAGATATAGGTCCGGGGCTTGGCCTGTTACCATCCATCCCAACCTAGCGACATTTACTTTTCTCCACAGGATCATTTTTCTCTTGACGAAGGTCGTCGCCTGTTTCTGGATTTCCCGATGGCCTGAGCATCATCCGCGCAGTGAACATCCTCCCTAAATCGGCTCGATCCCCTCTCCCCCAAAGGATCTAGCTAATTCTAAATCAAGCACAAACTTTATCTTCCTGTACTCCCTAGAGAGCACCTTCCGACTTCGGGGCTGGCTGCACCACTGCAATCCCGCGTAGCAGCCAAGCGTCCCTCTGGATTGTTCCCGCTTTTGCAGCAGGCCACACCCCCTCCAGCTCAGGCCCCGCTCACCTTGAGTTCTGGAGCACTTCCGGTCCGTAACCTGGGTCAGGGGTCCCCTGCCCAGGACCAGGGCTTGCCCGTCCGAGGGCAGGAAGATGGGGGGCGCTCCCCCAGGGGGGCTCTCGAGCCACAAGCGGCCCGGGGCCTCCACCTCGCCCATCCTGGGTGCCGGCCTGGGGAGCAGGTAAACGGGCTTGAGCGGCGCACAGCCCCAATTTGCTGCAGGAAGTCCCGCCTCCTCCCACATCCACTAGAAAGTTTCCCCACCATTAACTGCTCCGGAAGTCCCACCCGCTCGCCTTCCGCGGGTCGACCCGTTTCCCAGGCGACGACGCGTGCTCCATCCCTCCCCGAGTTGCAATCCCCACTTTCCAGCGTACAGGCAGAGAGCCTCGCACATGCCTCCGCCCCGCCCCGTACTCACCCGGGACCGCGGCTTGGGCTCACGGCCACTTCCGACCAGGGAGGTCCTGCCCGAGGTGCCCCGCCTGCAACCCGGCCGGCGGCGGTCGGTTCCTCGGCGGACGGAAATGACTCGTCCCCTCGTGGGTGGGGGGCGGGGCCTGGCCTCCTCCCACAGCAGCCACGCCCCTTCCCCGACTCCCGGCCCCCAGGGTCTCTCGGCAGCCCTGACCTTCATCTCTCTTGCTGCAACGCGAGGCTCAGGCCGGTAGCGGGGACTGGATCCTCCGTTAGCAGATTTGCCTCTTTCCACCTTGACTTCTAATTTTCATCCCAGGGAGGAAGATTTTTTTCCCATCTGATGGTCATTGTCAGTCGAGGAAACCTCCGCCCCCGACAGCGCCCCTAAGTCCTTCTTTGGCTTCACCCTCGATGTTCTAGTTTCCTCATCTATAAAAAGGATAATCGTTTCCGCTTCGTGGGGTTACCATGACGATTAAAGGAGCTAACACGTGACAAAAGCTTTAAAAAATGGGTGGTAGTGAGCCCTGTTTAAGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCTGCAAGCTCCGCCTCCCGGGTTGACGCCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGACGGTCTCGATCTCCTGATCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTCAGATCCGTTTAAGTCTTATTTAGTGTTAGCATTCTTTCGGTAGTGGTCTGGTGGGACTACGTTTACCTAGTCCTAATTTCGGACGAGGTTCCACCTGCTTTCTAACCTCCAGCCATTTTTTTTTCCCTTTGGAGAAGGGGTCTCACTGTGCTGCCCAGGCTGATCTCGACCTCCTGGTGTCATGTGATCCTCCCGCCTTGGCCTCCCAGCGTGTTGGGCTTATAGGCGTGAGGCACCAAGCCCAGTTGCTCCAGTCCTTTTATAATAGAAGACTCCCGGCTGGAGTTCCTGGCTTTGCTGGTGAATATGTGGGCTCTGTCTCCAACACTCACCTCCTCAAGATTGGGTTCCATGGTCACATAAGACTGGGATGCTCTCCTCCACCCCATGAACCTGTGTCTTCATATCTATAAAATGGGCACAAAGCCAGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCATCCTGACCAACATGATGAAACCCTGTTTCTACTGAAAATACAAAAATTACCCGGGCGGCAGTGGCGCGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGCGAGAGTGGGACCCTGTCTCAAAAAAGTAAATAAAATGGGCACAGTAATTCCAACCCCCAGCTATTCACTGATAATCAGACGCTGCCATTCGGTTTCAGAAAATGTTGAATGAACACTCACAACACACTTCACATTTATCTCAGAGGTAAAACTCTTTAATCTCAGAGCGCCCCTCCCAACTGCCGATCCCCCAACCCCT
ATCATTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGGAGGCCATTGACCAAATACAGTGTGTCCCCCACCCCCAGAGAGCCCTCCAACCCCGGCTTCAACTCCTGGGTCCCGGTAGTTGAGGGGTTAACTCCCAGCTGCAGAAAGAGAGGGAGGAGCTGGGACTGGCTCCGCCCCCACCGGGAGCTTCCTCCAATCAAATACCCAGCGGAAAAATCAGCCCTTCTCCACCACTATCAGACCCTTAGGCCCCACCTCTTCACTTTGGAACGGGCTTTGGAACGGTTACAGGTTTTCAGCCTTGTCCGAATCTTTTTTTTTTTTTTTTTTTTTTTTCCCCTGGAGATATAGGCTTGTTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCATTGAAACCTGTGCCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCTACCCGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCCGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCACAAACTCCTGATCTCGGGTGATCCGCCCGCCTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCGCCTTGTCCAATTTCTAAGGTCTTGGACAGGTACCCACCCCACTGAAACAGGCAACACTTCTTTCTTTACTGGACACATCCCCTTCTCTCCCAGCCATATTTTTTCTTTTCTTTTTTTGAGACAGGTTCTCGCTCTGTCACCCAGGCTGAAGTACAGTGTGGTGATCACTGCTCACTACACCCTTGACCTACTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCGATTAGGAACTACAAGGACGCGCCACCATTCCCGCTAATTTTTTAGAGAGACAGGTTTCACCATGTCGCTCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCCCCAATCAGATTTTCCTAATGTACCCCTTCACTGACGGCTTGCAATTCCTCCCCAAATCCCATCCCCAGGCCTTGCTGGCCCTTGCAGAGGCACTGATACCTGTTTCACTGCCACTGTCCGGGTCTCAGGATCTGCGACCAGCTCCACTGAGGATTGGAGGGGTGGAGTCAGGATTTGCATCCTTGTGTGATTGGGTCCCTCATTTCTGGGGAGTGTGGCCTGCTTCAGGCTATAGCATCCAGGGAGTAAGAGGCAGTTTATTTCTACATGGGATTGGCTCCTTGACATGCAGTAGCCAGATAGTGGCACTAGGATTGCCTGACACTGGTCCTTGCAAGGGACAGGGAGGTACTTTTCTCTACAGAATTGGTTTCCTCCTTGACAAAAAATGTGGCTAGATATAGGTCCGGGGCTTGGCCTGTTACCATCCATCCCAACCTAGCGACATTTACTTTTCTCCACAGGATCATTTTTCTCTTGACGAAGGTCGTCGCCTGTTTCTGGATTTCCCGATGGCCTGAGCATCATCCGCGCAGTGAACATCCTCCCTAAATCGGCTCGATCCCCTCTCCCCCAAAGGATCTAGCTAATTCTAAATCAAGCACAAACTTTATCTTCCTGTACTCCCTAGAGAGCACCTTCCGACTTCGGGGCTGGCTGCACCACTGCAATCCCGCGTAGCAGCCAAGCGTCCCTCTGGATTGTTCCCGCTTTTGCAGCAGGCCACACCCCCTCCAGCTCAGGCCCCGCTCACCTTCAGTTCTGGAGCACTTCCGGTCCGTAACCTGGGTCAGGGGTCCCCTGCCCAGGACCAGGGCTTGCCCGTCCGAGGGCAGGAAGATGGGGGGCGCTCCCCCAGGGGGGCTCTCGAGCCACAAGCGGCCCGGGGCCTCCACCTCGCCCATCCTGGGTGCCGGCCTGGGGAGCAGGTAAACGGGCTTGAGCGGCGCACAGCCCCAATTTGCTGCAGGAAGTCCCGCCTCCTCCCACATCCACTAGAAAGTTTCCCCACCATTAACTGCTCCGGAAGTCCCACCCGCTCGCCTTCCGCGGGTCGACCCGTTTCCCAGGCGACGACGCGTGCTCCATCCCTCCCCGAGTTGCAATCCCCACTTTCCAGCGTACAGGCAGAGAGCCTCGCACATGCCTCCGCCCCGCCCCGTACTCACCCGGGACCGCGGCTTGGGCTCACGGCCACTTCCGACCAGGGAGGTCCTGCCCGAGGTGCCCCGCCTGCAACCCGGCCGGCGGCGGTCGGTTCCTCGGCGGACGGAAATGACTCGTCCCCTCGTGGGTGGGGGGCGGGGCCTGGCCTCCTCCCACAGCAGCCACGCCCCTTCCCCGACTCCCGGCCCCCAGGGTCTCTCGGCAGCCCTGACCTTCATCTCTCTTGCTGCAACGCGAGGCTCAGGCCGGTAGCGGGGACTGGATCCTCCGTTAGCAGATTTGCCTCTTTCCACCTTGACTTCTAATTTTCATCCCAGGGAGGAAGATTTTTTTCCCATCTGATGGTCATTGTCAGTCGAGGAAACCTCCGCCCCCGACAGCGCCCCTAAGTCCTTCTTTGGCTTCACCCTCGATGTTCTAGTTTCCTCATCTATAAAAAGGATAATCGTTTCCGCTTCGTGGGGTTACCATGACGATTAAAGGAGCTAACACGTGACAAAAGCTTTAAAAAATGGGTGGTAGTGAGCCCTGTTTAAGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCTGCAAGCTCCGCCTCCCGGGTTGACGCCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTGAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGACGGTCTCGATCTCCTGATCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTCAGATCCGTTTAAGTCTTATTTAGTGTTAGCATTCTTTCGGTAGTGGTCTGGTGGGACTACGTTTACCTAGTCCTAATTTCGGACGAGGTTCCACCTGCTTTCTAACCTCCAGCCATTTTTTTTTCCCTTTGGAGAAGGGGTCTCACTGTGCTGCCCAGGCTGATCTCGACCTCCTGGTGTCATGTGATCCTCCCGCCTTGGCCTCCCAGCGTGTTGGGCTTATAGGCGTGAGGCACCAAGCCCAGTTGCTCCAGTCCTTTTATAATAGAAGACTCCCGGCTGGAGTTCCTGGCTTTGCTGGTGAATATGTGGGCTCTGTCTCCAACACTCACCTCCTCAAGATTGGGTTCCATGGTCACATAAGACTGGGATGCTCTCCTCCACCCCATGAACCTGTGTCTTCATATCTATAAAATGGGCACAAAGCCAGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTCAAGACCATCCTGACCAACATGATGAAACCCTGTTTCTACTGAAAATACAAAAATTACCCGGGCGGCAGTGGCGCGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTGGGCGAGAGTGGGACCCTGTCTCAAAAAAGTAAATAAAATGGGCACAGTAATTCCAACCCCCAGCTATTCACTGATAATCAGACGCTGCCATTCGGTTTCAGAAAATGTTGAATGAACACTCACAACACACTTCACATTTATCTCAGAGGTAAAACTCTTTAATCTCAGAGCGCCCCTCCCAACTGCCGATCCCCCAACCCCT
Task1_train_27473
This mutation is located in gene IL4I1, NUP62 (interleukin 4 induced 1| nucleoporin 62) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Infantile bilateral striatal necrosis
TTCCTCTTCTACCACTAGCACCACCCCTTCCTGGAGCAAACCACGATTTGCATTTGTCTATTACTCTGTCTCATCAAACAAAAGCTGCTTCATCGCATACCCCTATGTCTATGCAAGCACTACTTCATTTGCTTGCCTGTGCGTTTCATGTGAATGGCACCCCTGCAGAGTCTCCTGGAACCTGCTCTTTTTACTCAGCTTTCTCCTCCTAACATTTATCCATATTAACAGCAGCTGTTTTGGTTTCACAATACATTTATTTAGAAAAGCAACATACAGTAATAGGTATTTCAGAGAATTCAGCAAAGTATAAAGACAAATACAAAAGATGCTTGGGATACAACCGCTAGCTTCTGCCTTCCACACACAGTGGATTTTACTGTAACTGACTAGAGTTACTCTGGTGCCACTAAGTTCCGAGCCAAGTCTACGGCCACCACTGGAAGCTGTGGCTATTTCTGTGGACTGACGTTACACTGGGCTTCATTGTTCTTTCATTTAACAAATGTGACAGGGACCGGGCTGGGGACACACGGGGAACGACAGTGGGTCTCTGCCCATGGGAACTCACAATCTAACAGCGAGACGAGGCACAAACGGCTAGCACAGGATAGCATAACAAGTGCCACCCAAGGTACAGGCTCAGGGTGCTACGGGGACCTGCAAGAAGGCCACCTGAGCTTCGGGTAGCTGGGAAGGCTTCCTGGAGGAGGTGAGGCCCAAGGTGGGGGTGAGCCTGGGCCAGGCAAAAGGCAGGCCTCTCGGCGCCCATCTGTGGTTCCTCAACACCCTGTGTGTGCAGGCCCCTCAGCTGACCTGTCTTCTGTGAAATTCTTGATCCCGCTCTGTTCTATTCACACTGTGCTGCTTTGCCTTGGTGGTTAGCATGGTTAGCTTTCACAAGCACAAGCTCACACTCGAAAACTAGGCTGCTGTCTCCTGGGAGTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGTGATCTTGGTTCACTGCAACACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTGAGATCACAGGCGTCCACCACACCTGACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTCATCTGCCCGCCTTGGCCACCCAAAGTGCTGAGATTACAGGGGTGAGCCACTGCGCCCTGACTTGGAGGTTCTCTTACATTTGGTATTTTTTCATGACACCTATGACTATGCTTTGGAGAGAGTGGCTGCCCCCACGACCCTGGCTGGGACCAAGACCATCAGCACTTCTCCATCACCAGGCTGAGCCAGGATGAGGTGGGTGGTCGCAGTAGGTGAAAAGGGGCCAAAGATACTCAAATGAAAGCCACAGAAGCCACACCCATGAGGCTGCTGCCTGGGCAGAAGGCCCAGAATACCCTCCTAAATGGAAAAACGCAAAGCACACAGCGATCATGTCAAGGGCAGTCATGTGAAAGAAAGAAACAAACAAACAAGTATCTTGCCACAACCCCAAACTACAGACAACAGGGCGCATTCCCCTCATGAACTCCCTAGGGACCTGCGGGCCCCAGGGCTGCTGTCGCTCAGTCAAAGGTGATCCGGAAGCTGCGCTCCTGCTCCTTGCGCCGGCCCTCGCACACCTTGGTCACCTCCTCCACCTTCCTCTGCAGCAGGGCCGAGTTCTGGTCGATCCACTGCAGTGAGTCCATGTGCGCATTGAGGATCTTGCAGATCTGCTGCAGTGGGTCACTGGTGTCGGCGGGGGCCCCGGACGTGTTCAGGTGCTCGATGATGTCCTTGAGATCCTGGGCCATGCGCTTGAGCTGTGCATCGATGTTCTCAGCCAGCTTGTAGGTTTTCTCACGCTCCTCATCCGCGTGCTGCAGGTAGATGGTCCCGCTCTGCTCCTTGACCAACTCCTCCAGTGGGCTCAGCAGGTCTTCCAGCTCCTTCTGCTGGGACAGGATGAAGTCGAGCTCCTGGTCCAGCCTCTTCTGGTCCAGCTTCACCTTCTCCACCTCGCGGTGCAGGCTGGTGATCTTTTCTCCATTCTCGATCAGCGTGCGGTCCCAGGCGTTGACCTGGGTGGCCTGCTGGAGGAAGTGCCGCTCCTGGTCCTCTAGCTCCAGGCTCCATTTGTTGATCAGGCTCTCCAGCTGCGCGTAGGTCATGGCGGAGCTGGCAGCCGCCCCTGCAGCTGCGCCAGGGCCAGGTGGAGCGGTCACGGCAGCTGCTGTATTGCTGGGGATCCCGGCTGGCGCCAGTGGTTTTAAATTCAAGGCAAAGCCGGTGGTGCTGCTGCTGCTGGTGGTGGTGGCGGTGGCGGTGGCAGCGGTGGATGTTGTTGTGGAGGTGCCGGAAGCTGCTCCAGGTGCCTTTAAGCTGAAGCCCTGTGTCCCAGCAGTGGGGGCGCCCGCTGTGGTCACAGGGGTACAGAGGGAGAGTCCAGTGGTGGCAGATGAGGTTGGAGCAGTTGCTATTGACGCAAAGAGGCTGGGCCCAGTGCTGGTGATGGTGGCTGTGGGTGTGGGAGCAGCTGGCTGTGTGGCACCTGCTGTGGTGGCTGCTGGCGTGGCCGGAGTGAAGGGCAACGTGGCAGGTGCCGTGGGCTGGGCTGAATTCCCTGCTGAGCCAATGTTGAAACCGGAGGGTTGGGCCGTGCTTCCACCAGTGAATGAGAAGCCTCCAGATGTGGTAGCTGGAGCCACAGAGGTGGTGGAGGGGCCAAACACAAAGCCGGTGGGTGCTGTGCCCTGGCTGGAGGTGACGGTGCTCGATATGGCATTAGTGAGGTTGCTGCTGCCCAGCCCAAAGCCGCTGGGGTTTGCCATGGCTGGGGTGGCAGCTGTGTTGCTCAAGTTGAGCTTTGAAGCACCGATCCCCAAAGAAAATCCAGTTCCCCCCGAAGCAAGAGTCGCTGTTCCAAAAGTGAAGCCTGTCGTCTGTGTGGCCGGAGTCTGGGTGGCAAGTGAGAACAGGCCGGTGGAAGGGGTACTTGTGGCTGGTTGGAAGGGAGCCCCAAAATTAAACCCTCCAGTGCCAGAGGTGGAGAAAGAAAACCCTGTAGCAGGTGTGGTTGTTGCCGTCTTTGCAGTGCCAAACGTGAACCCGCCTGTAGGGGCCCCAGTGCCTCCAAAATTAAACCCGCTCATGGCTCCGGACTCTGGTGGCGGCAGCTACTCTGGCTCCCAAAGCAAATCCGTCGGTGTCTGCAGCCTTGGGAAGATTTCTAAAGCAGAGGAAGTGACATTGTCAGATGGCAGTTTTGGAAAGGCAAGCTCAGTGGCATGACTGGGCACAGTCGGTTTGGAGGGTGGTGGGATGGGATAATGATGCATGCTGTGTAACCTAAACTAGGCTCTGCTACATCGAGAAGGATCCAGAAGCACAAAAGCACGCCCCAGGGGTCAGGTACGAGGAGCCGGGGTGCTAGGGACGTGCGTGGCCATGTTCAGCCCAGTGGAAAGCTCCCACTCTGTGGAGGACGAGGCGGGAGAACAGGACCTTGGACCCACCTCAGCCTGAGGAGATCAGATTTGAGGCACTGCCACAAGCGGGACTAGGACACACAAGAACAGCTGTAGGACCTGCTCCCAGCGTGGGACCCAGTGAGGTTCCCTGGCTGACTCTAGCAGGGTGTGAGCGGATCAGCTCTTGCCACCCTGAGGGCCTCTCTGGACCTCAGAGAGAGAGATGGGGCCGGGAACCCAGGCTGGATGGCAGGGTCTGGGTTGCTGAAGGCCCCCCAGGCCCACACCTGCACTCTCTAAGAGCAGGAGAGGACACTGGAACTCCTCCTCCTAACTCAGGGGAGGGTCTGAAACCCATGTGCTCAGAGCACAGATGCCCCTGGCTGCAGTGATTGGCTCAAGGATAAACTGAGACCTGAGCCAGGCAATCGGAGCCTCCCCTGGGGTTTTCTCCAGGCTTGGAAGGCAGCTGCCTCCTTCACCTGTAGGTGTGGTGTGGAGGATTGCACCTGGGCCTCCCTTGGACACCTTCTCAACCATCTGCAGACACTGGGACAT
TTCCTCTTCTACCACTAGCACCACCCCTTCCTGGAGCAAACCACGATTTGCATTTGTCTATTACTCTGTCTCATCAAACAAAAGCTGCTTCATCGCATACCCCTATGTCTATGCAAGCACTACTTCATTTGCTTGCCTGTGCGTTTCATGTGAATGGCACCCCTGCAGAGTCTCCTGGAACCTGCTCTTTTTACTCAGCTTTCTCCTCCTAACATTTATCCATATTAACAGCAGCTGTTTTGGTTTCACAATACATTTATTTAGAAAAGCAACATACAGTAATAGGTATTTCAGAGAATTCAGCAAAGTATAAAGACAAATACAAAAGATGCTTGGGATACAACCGCTAGCTTCTGCCTTCCACACACAGTGGATTTTACTGTAACTGACTAGAGTTACTCTGGTGCCACTAAGTTCCGAGCCAAGTCTACGGCCACCACTGGAAGCTGTGGCTATTTCTGTGGACTGACGTTACACTGGGCTTCATTGTTCTTTCATTTAACAAATGTGACAGGGACCGGGCTGGGGACACACGGGGAACGACAGTGGGTCTCTGCCCATGGGAACTCACAATCTAACAGCGAGACGAGGCACAAACGGCTAGCACAGGATAGCATAACAAGTGCCACCCAAGGTACAGGCTCAGGGTGCTACGGGGACCTGCAAGAAGGCCACCTGAGCTTCGGGTAGCTGGGAAGGCTTCCTGGAGGAGGTGAGGCCCAAGGTGGGGGTGAGCCTGGGCCAGGCAAAAGGCAGGCCTCTCGGCGCCCATCTGTGGTTCCTCAACACCCTGTGTGTGCAGGCCCCTCAGCTGACCTGTCTTCTGTGAAATTCTTGATCCCGCTCTGTTCTATTCACACTGTGCTGCTTTGCCTTGGTGGTTAGCATGGTTAGCTTTCACAAGCACAAGCTCACACTCGAAAACTAGGCTGCTGTCTCCTGGGAGTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGTGATCTTGGTTCACTGCAACACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTGAGATCACAGGCGTCCACCACACCTGACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTCATCTGCCCGCCTTGGCCACCCAAAGTGCTGAGATTACAGGGGTGAGCCACTGCGCCCTGACTTGGAGGTTCTCTTACATTTGGTATTTTTTCATGACACCTATGACTATGCTTTGGAGAGAGTGGCTGCCCCCACGACCCTGGCTGGGACCAAGACCATCAGCACTTCTCCATCACCAGGCTGAGCCAGGATGAGGTGGGTGGTCGCAGTAGGTGAAAAGGGGCCAAAGATACTCAAATGAAAGCCACAGAAGCCACACCCATGAGGCTGCTGCCTGGGCAGAAGGCCCAGAATACCCTCCTAAATGGAAAAACGCAAAGCACACAGCGATCATGTCAAGGGCAGTCATGTGAAAGAAAGAAACAAACAAACAAGTATCTTGCCACAACCCCAAACTACAGACAACAGGGCGCATTCCCCTCATGAACTCCCTAGGGACCTGCGGGCCCCAGGGCTGCTGTCGCTCAGTCAAAGGTGATCCGGAAGCTGCGCTCCTGCTCCTTGCGCCGGCCCTCGCACACCTTGGTCACCTCCTCCACCTTCCTCTGCAGCAGGGCCGAGTTCTGGTCGATCCACTGCAGTGAGTCCATGTGCGCATTGAGGATCTTGCAGATCTGCTGCAGTGGGTCACTGGTGTCGGCGGGGGCCCCGGACGTGTTCAGGTGCTCGATGATGTCCTTGAGATCCTGGGCCATGCGCTTGAGCTGTGCATCGATGTTCTCAGCCAGCTTGTAGGTTTTCTCACGCTCCTCATCCGCGTGCTGCAGGTAGATGGTCCCGCTCTGCTCCTTGACCAACTCCTCCAGTGGGCTCAGCAGGTCTTCCAGCTCCTTCTGCTGGGACAGGATGAAGTCGAGCTCCGGGTCCAGCCTCTTCTGGTCCAGCTTCACCTTCTCCACCTCGCGGTGCAGGCTGGTGATCTTTTCTCCATTCTCGATCAGCGTGCGGTCCCAGGCGTTGACCTGGGTGGCCTGCTGGAGGAAGTGCCGCTCCTGGTCCTCTAGCTCCAGGCTCCATTTGTTGATCAGGCTCTCCAGCTGCGCGTAGGTCATGGCGGAGCTGGCAGCCGCCCCTGCAGCTGCGCCAGGGCCAGGTGGAGCGGTCACGGCAGCTGCTGTATTGCTGGGGATCCCGGCTGGCGCCAGTGGTTTTAAATTCAAGGCAAAGCCGGTGGTGCTGCTGCTGCTGGTGGTGGTGGCGGTGGCGGTGGCAGCGGTGGATGTTGTTGTGGAGGTGCCGGAAGCTGCTCCAGGTGCCTTTAAGCTGAAGCCCTGTGTCCCAGCAGTGGGGGCGCCCGCTGTGGTCACAGGGGTACAGAGGGAGAGTCCAGTGGTGGCAGATGAGGTTGGAGCAGTTGCTATTGACGCAAAGAGGCTGGGCCCAGTGCTGGTGATGGTGGCTGTGGGTGTGGGAGCAGCTGGCTGTGTGGCACCTGCTGTGGTGGCTGCTGGCGTGGCCGGAGTGAAGGGCAACGTGGCAGGTGCCGTGGGCTGGGCTGAATTCCCTGCTGAGCCAATGTTGAAACCGGAGGGTTGGGCCGTGCTTCCACCAGTGAATGAGAAGCCTCCAGATGTGGTAGCTGGAGCCACAGAGGTGGTGGAGGGGCCAAACACAAAGCCGGTGGGTGCTGTGCCCTGGCTGGAGGTGACGGTGCTCGATATGGCATTAGTGAGGTTGCTGCTGCCCAGCCCAAAGCCGCTGGGGTTTGCCATGGCTGGGGTGGCAGCTGTGTTGCTCAAGTTGAGCTTTGAAGCACCGATCCCCAAAGAAAATCCAGTTCCCCCCGAAGCAAGAGTCGCTGTTCCAAAAGTGAAGCCTGTCGTCTGTGTGGCCGGAGTCTGGGTGGCAAGTGAGAACAGGCCGGTGGAAGGGGTACTTGTGGCTGGTTGGAAGGGAGCCCCAAAATTAAACCCTCCAGTGCCAGAGGTGGAGAAAGAAAACCCTGTAGCAGGTGTGGTTGTTGCCGTCTTTGCAGTGCCAAACGTGAACCCGCCTGTAGGGGCCCCAGTGCCTCCAAAATTAAACCCGCTCATGGCTCCGGACTCTGGTGGCGGCAGCTACTCTGGCTCCCAAAGCAAATCCGTCGGTGTCTGCAGCCTTGGGAAGATTTCTAAAGCAGAGGAAGTGACATTGTCAGATGGCAGTTTTGGAAAGGCAAGCTCAGTGGCATGACTGGGCACAGTCGGTTTGGAGGGTGGTGGGATGGGATAATGATGCATGCTGTGTAACCTAAACTAGGCTCTGCTACATCGAGAAGGATCCAGAAGCACAAAAGCACGCCCCAGGGGTCAGGTACGAGGAGCCGGGGTGCTAGGGACGTGCGTGGCCATGTTCAGCCCAGTGGAAAGCTCCCACTCTGTGGAGGACGAGGCGGGAGAACAGGACCTTGGACCCACCTCAGCCTGAGGAGATCAGATTTGAGGCACTGCCACAAGCGGGACTAGGACACACAAGAACAGCTGTAGGACCTGCTCCCAGCGTGGGACCCAGTGAGGTTCCCTGGCTGACTCTAGCAGGGTGTGAGCGGATCAGCTCTTGCCACCCTGAGGGCCTCTCTGGACCTCAGAGAGAGAGATGGGGCCGGGAACCCAGGCTGGATGGCAGGGTCTGGGTTGCTGAAGGCCCCCCAGGCCCACACCTGCACTCTCTAAGAGCAGGAGAGGACACTGGAACTCCTCCTCCTAACTCAGGGGAGGGTCTGAAACCCATGTGCTCAGAGCACAGATGCCCCTGGCTGCAGTGATTGGCTCAAGGATAAACTGAGACCTGAGCCAGGCAATCGGAGCCTCCCCTGGGGTTTTCTCCAGGCTTGGAAGGCAGCTGCCTCCTTCACCTGTAGGTGTGGTGTGGAGGATTGCACCTGGGCCTCCCTTGGACACCTTCTCAACCATCTGCAGACACTGGGACAT
Task1_train_27474
A mutation in MYH14 (myosin heavy chain 14), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; MYH14-related disorder
GTAAAAAAGGAACGGGTAACATTAATTTAATGATATATTTTATTTAACCCAGTAGATTGAAAATATTATCATTTCAGCATGTCATCAAATATTTAAAATCTCAGCAAACTATCTTTTTGTTGTACTAAGTCTTGGAAATCTGGTGTGTATCTTACACTTAGAACTCCAGATGGGGATATTTATATTTAAATTTTAAGATGGGGCTCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGGAGCCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGTCTGGGCAACATAGAAGACCCTGTCTCTACAAAACAAATTTAAAAATTAGTAGGCATGGTGGCATGCCTGTTAATACATTTATTTTTTAATTAATAAATTTCAGACATGAATCACCTGAGGCTGGGAAGTCAAGGATGTGGTGAGCCGTGGTTGTACCACTGCACTCCAGCCTGAGCAACGGAGTGAAACCTCATCTCAAAATAAAATAAAATAGATTGAATTTAAATGAATGAAATTGAAAATGTGTTTCCTCAGTGACACATGCCACATTGCAAGTACCCGGTAGTGCACAGGTGGTGGTGGCTTCTGCAGTGGACAGCCCGGGGCTAGAAAGTAAACTTTTGGAGGCAGGCGTCTTCTTCCAGCTTGTCTGTTGCTCCATTGTCAGTGCCCAGAACTGAGCCTGGCCAGGAGTGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCTGCCTGGACAACATAGTGAGACCCTAATTTCTACAAAAATTGAAAATAATTGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCAGGTCAGGGGATCGAGACCAACCTGGATAACACAGTGAAACGCTGTCTCTACTAAAAATAGAAAACAATAGCCGGGTATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACACAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAATAATTAGCCGGGGCCGGGTGTGGTAGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGATGCCGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTGACCCTCTGAGCCTGGTTCACAGCCTAGCTTATTAAAGAATGAATGAGTGCCTAGAGAGGTGAATGAATGAAATGAGTAAGCTGGGTCTGTTAACCCACTTTGCAGAAGTATGGCAAGAGGTCTGGTAAAGGAAGGCAGAGGTGGCTGCCTGGGGAATTTGGGGTAGGGAAGGGAGGCCCGGGGGACGGAGCCCCATCTGACCCCCACCCTCTTTCTTTGCCCCTGCAGACCATGGCAGCCGTGACCATGTCGGTGCCCGGGCGGAAGGCGCCCCCCAGGCCGGGCCCAGTGCCCGAGGCGGCCCAGCCGTTCCTGTTCACGCCCCGCGGGCCCAGCGCGGGTGGCGGGCCTGGCTCGGGCACCTCCCCGCAGGTGGAGTGGACGGCCCGGCGTCTCGTGTGGGTGCCTTCGGAGCTTCACGGGTTCGAGGCGGCGGCGCTGCGGGACGAAGGCGAGGAGGAGGCGGAGGTGGAGCTGGCGGAGAGCGGGAGGCGGCTGCGACTGCCGCGGGACCAGATCCAGCGCATGAACCCGCCCAAGTTCAGCAAGGCCGAGGACATGGCCGAGCTGACCTGCCTCAACGAGGCCTCGGTCCTGCACAACCTCCGGGAGCGGTACTACTCCGGCCTCATCTACGTGAGTGGGCTCCTGCTGGGGGGCGCGTGCGGCGGAGTTGCTGCCGGTTGGGGAACCAGGTCCACCACCCGGCTCCCCTGCATTAACTTGAGGCTGTTTATCATCTGTATCCCATGTCCCGTGACTGTTCCTACACTTACATGGTTGCCAAATTATGAATTGTTGGATTACTAGGACAGCCTCGGAACCTACTGGGGACATTGCATGATACATATGGTAGATAAACTGTATTATTTTCCTAAAGTATAAAACGTTCCAATTTCTCAGATATAGCTCATCCCGAGTTTTAAGGAACGGAAACAGATGTGTGACAATCATTAATGTGAATCACTGAGTATAGAAATGTGTTGCTTGAGGTTCAAGACCAGCCTGGGCAACAAAACGAGACCCTATCTCTTAAAAAAAGATAAATTAGCCAGGTGTGGTGGTGGCCCGTGCCTTTAGTCTCACCTTCTAGGAAGACTGAGGCAGGAGGATCACTTGAGCCCGGGAGGTCAAGGCTGCAGTGAGCTATGATGATACCACTGCACTCCAGCCTGGGTGACAGCACAAGACCCTGTCTCAAAAAAAGACAAAAAGCAAAAACCTTATGCTAGGCTCTGTGCTAAATGCCTATCTATTAATTCATTCAATCTCACCATAGGAAAGATAGAGTCTATTATTATTACCATTTTACCTAAGAGGCAAATGAGGCCCAGAGAGAGTTAATAACAATAAAAATGAACATTTATTAAACATTTACCAACCATTCTTCCAAGCTTTCTAAAATACATTGCCTCTGTACATTTTCAGAATTATAAAGCATCTGATCCTCATTTTACAGGTAAGAAAACTGAGGCACAGAGAGTTCAAGGTCACACAATTAGACCTGACAGAGCCAGGTAGTCTGTCTTCTCACTTTGCTGTGGTGCCTCTTAAGATTGAGATGGGGCTGGGAATGGTGGTTCATGCCTGTAATCTCAGTACTTTGAGAGGCTGAGGTGGGTGGATTGCTTGAGCCCAGGAGTTCGGGACCATCCTGGGCATGGCAAAACCCCATCCCTGCAAAAAAAAAAAAAATACAATAAATTAGCTGGGCATGGTGGCACACTCTTGTAGTCCCAGTTACTTGGGAGGCTGAGGTGGGAGAATCACCTGAGCCCTGAAGGTGGAGGCTGCAGTGAGCTGTGATGGCGCTACTGTACTCCAGCCTGGGTAACAAATCAAGACCCTGTCTCAAACAAAACGAAACAATACAAAAACCCATTGAGAAGAGATTGATGATACTTAGGTTGACTATGGTAGTCTTCCCACGTCTGTGCTAAGCATTGGAGGTTCGTTGCATTTTTAAAACTCTTTACAGCAAACGGATGGGGTAGAGCAGTGGTTCTTAACCCCACCTCTATGGTAGAATCATTTGGGGAATTCTTAGAAAATACCAGTGACGGAGCCCCACCCCAGAACTTTCAGTCGAGCTCTCTGGGGCTGTGACATGAACATTGGTATTTTTAATAAGCTTCCAAGGAGGTTCTAATGGGCAGCCAAGGGGTTATTAATTTCATTGAACAAAAGAGCAAACAGGATTAGAGAGATTGACAAGGAATATGGACAATCATAATGAAAAATAATAATAAGAGGAGGCTAGCAAATATTTAATCGAGCACTCGTGATGTGCCAAGCACTGTTCTAAGTGTGGCGTGTGAGTTATCAGCTTCCCTCTGGGCCAGGGACTGCTGATATCACCTGATGTTCAGGATGTTAAGTGACCCACAGCCATGAAGGAATCACGCCAGGATTTGAACCCAGGCAGCTGGTTCCAGAGTCATGCTCCAAACTCTAGCTTAGACTGGTGGGGTCTCACAGCTTTGCTCCAACATCCACCCCTCTGAGGTTCACAAAGCGGAAGATTAGAATATTTTTGTGAAGTCCCACTCCTACTTGGAGATCGAGGCTCTGAGATAAGCAGTGGCTGGCTCAGGGTCCCTCAGCTTGTGGTGGCAGGTGTGGAATTTGAATCGAGGG
GTAAAAAAGGAACGGGTAACATTAATTTAATGATATATTTTATTTAACCCAGTAGATTGAAAATATTATCATTTCAGCATGTCATCAAATATTTAAAATCTCAGCAAACTATCTTTTTGTTGTACTAAGTCTTGGAAATCTGGTGTGTATCTTACACTTAGAACTCCAGATGGGGATATTTATATTTAAATTTTAAGATGGGGCTCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGGAGCCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGTCTGGGCAACATAGAAGACCCTGTCTCTACAAAACAAATTTAAAAATTAGTAGGCATGGTGGCATGCCTGTTAATACATTTATTTTTTAATTAATAAATTTCAGACATGAATCACCTGAGGCTGGGAAGTCAAGGATGTGGTGAGCCGTGGTTGTACCACTGCACTCCAGCCTGAGCAACGGAGTGAAACCTCATCTCAAAATAAAATAAAATAGATTGAATTTAAATGAATGAAATTGAAAATGTGTTTCCTCAGTGACACATGCCACATTGCAAGTACCCGGTAGTGCACAGGTGGTGGTGGCTTCTGCAGTGGACAGCCCGGGGCTAGAAAGTAAACTTTTGGAGGCAGGCGTCTTCTTCCAGCTTGTCTGTTGCTCCATTGTCAGTGCCCAGAACTGAGCCTGGCCAGGAGTGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCTGCCTGGACAACATAGTGAGACCCTAATTTCTACAAAAATTGAAAATAATTGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCAGGTCAGGGGATCGAGACCAACCTGGATAACACAGTGAAACGCTGTCTCTACTAAAAATAGAAAACAATAGCCGGGTATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACACAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAATAATTAGCCGGGGCCGGGTGTGGTAGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGATGCCGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTGACCCTCTGAGCCTGGTTCACAGCCTAGCTTATTAAAGAATGAATGAGTGCCTAGAGAGGTGAATGAATGAAATGAGTAAGCTGGGTCTGTTAACCCACTTTGCAGAAGTATGGCAAGAGGTCTGGTAAAGGAAGGCAGAGGTGGCTGCCTGGGGAATTTGGGGTAGGGAAGGGAGGCCCGGGGGACGGAGCCCCATCTGACCCCCACCCTCTTTCTTTGCCCCTGCAGACCATGGCAGCCGTGACCATGTCGGTGCCCGGGCGGAAGGCGCCCCCCAGGCCGGGCCCAGTGCCCGAGGCGGCCCAGCCGTTCCTGTTCACGCCCCGCGGGCCCAGCGCGGGTGGCGGGCCTGGCTCGGGCACCTCCCCGCAGGTGGAGTGGACGGCCCGGCGTCTCGTGTGGGTGCCTTCGGAGCTTCACGGGTTCGAGGCGGCGGCGCTGCGGGACGAAGGCGAGGAGGAGGCGGAGGTGGAGCTGGCGGAGAGCGGGAGGCGGCTGCGACTGCCGCGGGACCAGATCCAGCGCATGAACCCGCCCAAGTTCAGCAAGGCCGAGGACATGGCCGAGCTGACCTGCCTCAACGAGGCCTTGGTCCTGCACAACCTCCGGGAGCGGTACTACTCCGGCCTCATCTACGTGAGTGGGCTCCTGCTGGGGGGCGCGTGCGGCGGAGTTGCTGCCGGTTGGGGAACCAGGTCCACCACCCGGCTCCCCTGCATTAACTTGAGGCTGTTTATCATCTGTATCCCATGTCCCGTGACTGTTCCTACACTTACATGGTTGCCAAATTATGAATTGTTGGATTACTAGGACAGCCTCGGAACCTACTGGGGACATTGCATGATACATATGGTAGATAAACTGTATTATTTTCCTAAAGTATAAAACGTTCCAATTTCTCAGATATAGCTCATCCCGAGTTTTAAGGAACGGAAACAGATGTGTGACAATCATTAATGTGAATCACTGAGTATAGAAATGTGTTGCTTGAGGTTCAAGACCAGCCTGGGCAACAAAACGAGACCCTATCTCTTAAAAAAAGATAAATTAGCCAGGTGTGGTGGTGGCCCGTGCCTTTAGTCTCACCTTCTAGGAAGACTGAGGCAGGAGGATCACTTGAGCCCGGGAGGTCAAGGCTGCAGTGAGCTATGATGATACCACTGCACTCCAGCCTGGGTGACAGCACAAGACCCTGTCTCAAAAAAAGACAAAAAGCAAAAACCTTATGCTAGGCTCTGTGCTAAATGCCTATCTATTAATTCATTCAATCTCACCATAGGAAAGATAGAGTCTATTATTATTACCATTTTACCTAAGAGGCAAATGAGGCCCAGAGAGAGTTAATAACAATAAAAATGAACATTTATTAAACATTTACCAACCATTCTTCCAAGCTTTCTAAAATACATTGCCTCTGTACATTTTCAGAATTATAAAGCATCTGATCCTCATTTTACAGGTAAGAAAACTGAGGCACAGAGAGTTCAAGGTCACACAATTAGACCTGACAGAGCCAGGTAGTCTGTCTTCTCACTTTGCTGTGGTGCCTCTTAAGATTGAGATGGGGCTGGGAATGGTGGTTCATGCCTGTAATCTCAGTACTTTGAGAGGCTGAGGTGGGTGGATTGCTTGAGCCCAGGAGTTCGGGACCATCCTGGGCATGGCAAAACCCCATCCCTGCAAAAAAAAAAAAAATACAATAAATTAGCTGGGCATGGTGGCACACTCTTGTAGTCCCAGTTACTTGGGAGGCTGAGGTGGGAGAATCACCTGAGCCCTGAAGGTGGAGGCTGCAGTGAGCTGTGATGGCGCTACTGTACTCCAGCCTGGGTAACAAATCAAGACCCTGTCTCAAACAAAACGAAACAATACAAAAACCCATTGAGAAGAGATTGATGATACTTAGGTTGACTATGGTAGTCTTCCCACGTCTGTGCTAAGCATTGGAGGTTCGTTGCATTTTTAAAACTCTTTACAGCAAACGGATGGGGTAGAGCAGTGGTTCTTAACCCCACCTCTATGGTAGAATCATTTGGGGAATTCTTAGAAAATACCAGTGACGGAGCCCCACCCCAGAACTTTCAGTCGAGCTCTCTGGGGCTGTGACATGAACATTGGTATTTTTAATAAGCTTCCAAGGAGGTTCTAATGGGCAGCCAAGGGGTTATTAATTTCATTGAACAAAAGAGCAAACAGGATTAGAGAGATTGACAAGGAATATGGACAATCATAATGAAAAATAATAATAAGAGGAGGCTAGCAAATATTTAATCGAGCACTCGTGATGTGCCAAGCACTGTTCTAAGTGTGGCGTGTGAGTTATCAGCTTCCCTCTGGGCCAGGGACTGCTGATATCACCTGATGTTCAGGATGTTAAGTGACCCACAGCCATGAAGGAATCACGCCAGGATTTGAACCCAGGCAGCTGGTTCCAGAGTCATGCTCCAAACTCTAGCTTAGACTGGTGGGGTCTCACAGCTTTGCTCCAACATCCACCCCTCTGAGGTTCACAAAGCGGAAGATTAGAATATTTTTGTGAAGTCCCACTCCTACTTGGAGATCGAGGCTCTGAGATAAGCAGTGGCTGGCTCAGGGTCCCTCAGCTTGTGGTGGCAGGTGTGGAATTTGAATCGAGGG
Task1_train_27475
Given this context: Chromosome 19, gene MYH14 (myosin heavy chain 14) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Autosomal dominant nonsyndromic hearing loss 4A
CTACCTTACAGGCTGTGTGAGGTCCTTCATATGTAAAGTGCCAGTTGTGATAAATGATAAGACCCTTGACCTTTGGCCCAGGTCCCTAAAACTGACCCTGACCTCCTTCTCTCTCTCTCTGCATCTCCATCTGACAGTGGAGGGCATCGTGGGGCTGGAACAGGTGAGCAGCCTGGGCGACGGCCCACCAGGTGGCCGCCCCCGTCGGGGTATGTTCCGGACAGTGGGACAGCTCTACAAGGAGTCCCTGAGCCGCCTCATGGCCACACTCAGCAACACCAACCCCAGTTTTGTCCGCTGCATTGTCCCCAACCACGAGAAGAGGGTGAGTGACTCAGCCTGGGGAGGAAGGGGTGGCTGTGGCTGTGGGTTAAGGTTTGGCCTCTGGACTTGGCTGGAGCCACATCTGATTCGAGGACCCTCAAATTAGCTGTGTGGCTTTGAGCAAATTGCTTCTATTCCTAGGCTCAGGGTCCGGTTGGGAAAATTCATGCATTCATATGACTTAATGTATTAAGCATCTACTGTGCTGGGAACAGGTACTGGGGAGGCATTGGAGAGAAAGGCACAGCCAACTCCTGTTCTCAGGGAGCTCACAGTCTGATGGGGAGCATAGACATTCATCTAACCATCCAAAATGAACGTCCAGTTAAATCTGTAGGGGTGGTGAGTATCACACAGGGCTTGATCTGGTCAGTGAAGTTAGGGAAGGTTCCCTGGGGGACGTGATGACTGAGCCCTGAAGGATACGTGATATTCCAGGCAGAGAAGAGTTTGTACAAAGGCCCAATGGTAGGTTGGAGCACGCGAGGTACAAGGGATAGAGGAAGGCCATCAGGGCTGGGCTTGTTGCATGGGTGTGACAAGACCATGGCCAGCCTCACTGGCCACTGATTTTCATGTTGAGAAAATCAGAGAATGGGCCCTACAGAGAAGGGTCAATGGGAATGGAAAACAACATGTTTGCCATGTTGCCCAGGCTGCTCTCGAACTCCTGAGCTCAAGCGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCTGAGATCCCATATTTTATCAAATCTAAGCCATGTATTCCTCCCCACTAGCGTCTCTGAAGTCGAGATGTAGCTTAGTCAACGGCCTGTCAGGGTTTAATTACCAGTCTTTTTCCTTTCTTGGTGGCATATTTAACGACAGCGTGTGCCACTGGAATTTTTGTACTGTTTAGATTTTTGCCATTTGTGCATTACTGTTGAAAAGAGAAAAGGCGGCCTGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAATGGCGAAACGCCGTCTCTACTCAAAATACAAAAATTAGCTGGGCATAGTGGTGTGCACCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAGCTCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAACGAACAAACAAACAAACAAAAACCAAAAAAACATGATTTACCAGCTTTGGACAGACATCAGCTTCCCAGGAGGCCTTTTGGCGACTCTCTTGCGTGCAAATTCAGCCCCACCCACATCCCTCCCTGCGGATCTTTTCTCCTTAGCACTTAGTATTTCTTCTTTATTAGTGACTGCTTCACCTAGGGTATTTCTAGTTTCTCCTACTGAACTCTCAGTTCCCCAGGGCAGGATTTCCCCCTGGTTTGAGCATTGCTGTCTTCCCAGGGCCTAGAACCGTTCCTAGGCACCTAGTAGGTGCTCAGTAAATTACATGTGGAAACAGGAAATTGCCAAGCTTGACCGTTTGGCGCCCCCGTGTGGCCGCCGCTGACCCCCGCGTGTCCGTCCGCTCTCCCCAGGCCGGGAAGCTGGAGCCACGGCTGGTGCTGGACCAGCTTCGCTGCAACGGGGTCCTGGAGGGCATCCGCATCTGTCGCCAGGGCTTCCCCAACCGCATCCTCTTCCAGGAGTTCCGGCAGCGGTGAGCTAGAGCGAGGGCCCAGGCCCGGCGGAGGGGCTGGGTGGGACCCGGGTCTGGAAGCCGACACACCTGCATTCAGGTCTCCACCCACTCTTGTTCCTTCTGCGCTGGGGAAGTTGAGGCAGATTACTCACTTTGCTGAGCCTCAGTTTACTCGTCTGTGTATGGGAGAACAATAGCCCACTTGATGCACTCCTGAGAGAAAGCACACAGAGTCTATGGGGATCTGGGGTACATTGCTGCTGCTGTTTAGGGCAGTAGGCCCCAAACTATGAACGTGAAATCACTGCATGGTGTTACAAATCTGCATGTCTTTAAAAATGAAGTAGAAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCGGAAGTTCGAGACCAGCCTGACCAACGTGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTAGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCGGGAAGGGGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAATAAATAAGTAAATAAAGAAGTAGAATAGGACAGAATAGAAAATACCAAGGCCTAATGAGCAAGTAATACAGCAAATGTAACAAAAATGATGCTTCACACAAGCTGTGTAGAGCAGCACCGTCCCTTAGAAGTAGAATGGGAAGCCTTGTACACAATTGAACATTTTCTAATAGCTACACTTTTACAAGTGAAAAAAATGAAATTAATTTTAACAAGATATTTTACTAAAGCCAATACATCCAAAATACTGGCCAATACTGGCTGGGCACTGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTCAGGTCAGGAGTTCAAGACAGCCTGGCCATCATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACATGCCTGAATCCCAGCTACCTGGTAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTCGCAGTGAGGCAAGATCTGACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAACAAACAAAACAAAAAACTGAAACAGTCGATCATTGTCGATGTTGCTGTCCTTGGTGGTGGCGTGAATGCTCAGATGTGAGTTTTGTGACTGTCCTTGTTATTGTCACTGTTGTTCCTGCTGTGTGTCACTCTGAGCCCAGTGCCTGGCCCGCAGCAGGCACTAGGTGAGCGTTTGCTGTAACTCTCTCCTCCCCACCCCTCCCTGCTCATTGCAGATACGAGATCCTGACACCCAATGCCATCCCCAAGGGCTTCATGGATGGGAAGCAGGCCTGTGAAAAGATGGTGAGTGGGGCAGAGCCTGGAATGCGTGTGTGCGTGTGTGTGTGTGCGTGCATGAGTGTGCGTGCATGTGTGTGTGCATGCATATGTGTGCATGCGTGTGTGTGCAAGTGTGTGTGCATGCACGTGTGTGCGTGTGTGTGTGCATGCATATGTGTGCATGCGTGTGTGTGCATGTGTGTGTGTGCATGCGTTTGTGTGCAGGGGCCCAGGTGGTCGGGGAGTGGGGCTGGGATCTCCCCTTCATTGACCTTCCTCATTACCTCTCCCTATCACCGCCCCCACCCCCGCTTCCTCATCATCCCCTATCACCCCCCTCCCCGTCACCCCATCACCCCCTCCCCATCACCACTCCCCCATCGCCCCCTCCCTATAACTCTTCTCCCCTATCACCCTCCTCCACATCACCCCCTCCCCCATCACCCCCTCTCCCCAATCACCACCCCCTCCCAATCACTGCCCCTCCTCACCACCCCCCCATCATCCCCTGCCCCATCACCCCCTTCCTATAACTCCCCTCCCCTATCACTCTTCACATCACCCCC
CTACCTTACAGGCTGTGTGAGGTCCTTCATATGTAAAGTGCCAGTTGTGATAAATGATAAGACCCTTGACCTTTGGCCCAGGTCCCTAAAACTGACCCTGACCTCCTTCTCTCTCTCTCTGCATCTCCATCTGACAGTGGAGGGCATCGTGGGGCTGGAACAGGTGAGCAGCCTGGGCGACGGCCCACCAGGTGGCCGCCCCCGTCGGGGTATGTTCCGGACAGTGGGACAGCTCTACAAGGAGTCCCTGAGCCGCCTCATGGCCACACTCAGCAACACCAACCCCAGTTTTGTCCGCTGCATTGTCCCCAACCACGAGAAGAGGGTGAGTGACTCAGCCTGGGGAGGAAGGGGTGGCTGTGGCTGTGGGTTAAGGTTTGGCCTCTGGACTTGGCTGGAGCCACATCTGATTCGAGGACCCTCAAATTAGCTGTGTGGCTTTGAGCAAATTGCTTCTATTCCTAGGCTCAGGGTCCGGTTGGGAAAATTCATGCATTCATATGACTTAATGTATTAAGCATCTACTGTGCTGGGAACAGGTACTGGGGAGGCATTGGAGAGAAAGGCACAGCCAACTCCTGTTCTCAGGGAGCTCACAGTCTGATGGGGAGCATAGACATTCATCTAACCATCCAAAATGAACGTCCAGTTAAATCTGTAGGGGTGGTGAGTATCACACAGGGCTTGATCTGGTCAGTGAAGTTAGGGAAGGTTCCCTGGGGGACGTGATGACTGAGCCCTGAAGGATACGTGATATTCCAGGCAGAGAAGAGTTTGTACAAAGGCCCAATGGTAGGTTGGAGCACGCGAGGTACAAGGGATAGAGGAAGGCCATCAGGGCTGGGCTTGTTGCATGGGTGTGACAAGACCATGGCCAGCCTCACTGGCCACTGATTTTCATGTTGAGAAAATCAGAGAATGGGCCCTACAGAGAAGGGTCAATGGGAATGGAAAACAACATGTTTGCCATGTTGCCCAGGCTGCTCTCGAACTCCTGAGCTCAAGCGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCTGAGATCCCATATTTTATCAAATCTAAGCCATGTATTCCTCCCCACTAGCGTCTCTGAAGTCGAGATGTAGCTTAGTCAACGGCCTGTCAGGGTTTAATTACCAGTCTTTTTCCTTTCTTGGTGGCATATTTAACGACAGCGTGTGCCACTGGAATTTTTGTACTGTTTAGATTTTTGCCATTTGTGCATTACTGTTGAAAAGAGAAAAGGCGGCCTGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAATGGCGAAACGCCGTCTCTACTCAAAATACAAAAATTAGCTGGGCATAGTGGTGTGCACCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAGCTCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAACGAACAAACAAACAAACAAAAACCAAAAAAACATGATTTACCAGCTTTGGACAGACATCAGCTTCCCAGGAGGCCTTTTGGCGACTCTCTTGCGTGCAAATTCAGCCCCACCCACATCCCTCCCTGCGGATCTTTTCTCCTTAGCACTTAGTATTTCTTCTTTATTAGTGACTGCTTCACCTAGGGTATTTCTAGTTTCTCCTACTGAACTCTCAGTTCCCCAGGGCAGGATTTCCCCCTGGTTTGAGCATTGCTGTCTTCCCAGGGCCTAGAACCGTTCCTAGGCACCTAGTAGGTGCTCAGTAAATTACATGTGGAAACAGGAAATTGCCAAGCTTGACCGTTTGGCGCCCCCGTGTGGCCGCCGCTGACCCCCGCGTGTCCGTCCGCTCTCCCCAGGCCGGGAAGCTGGAGCCACGGCTGGTGCTGGACCAGCTTCGCTGCAACGGGGTCCTGGAGGGCATCAGCATCTGTCGCCAGGGCTTCCCCAACCGCATCCTCTTCCAGGAGTTCCGGCAGCGGTGAGCTAGAGCGAGGGCCCAGGCCCGGCGGAGGGGCTGGGTGGGACCCGGGTCTGGAAGCCGACACACCTGCATTCAGGTCTCCACCCACTCTTGTTCCTTCTGCGCTGGGGAAGTTGAGGCAGATTACTCACTTTGCTGAGCCTCAGTTTACTCGTCTGTGTATGGGAGAACAATAGCCCACTTGATGCACTCCTGAGAGAAAGCACACAGAGTCTATGGGGATCTGGGGTACATTGCTGCTGCTGTTTAGGGCAGTAGGCCCCAAACTATGAACGTGAAATCACTGCATGGTGTTACAAATCTGCATGTCTTTAAAAATGAAGTAGAAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTCGGAAGTTCGAGACCAGCCTGACCAACGTGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTAGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCGGGAAGGGGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAATAAATAAGTAAATAAAGAAGTAGAATAGGACAGAATAGAAAATACCAAGGCCTAATGAGCAAGTAATACAGCAAATGTAACAAAAATGATGCTTCACACAAGCTGTGTAGAGCAGCACCGTCCCTTAGAAGTAGAATGGGAAGCCTTGTACACAATTGAACATTTTCTAATAGCTACACTTTTACAAGTGAAAAAAATGAAATTAATTTTAACAAGATATTTTACTAAAGCCAATACATCCAAAATACTGGCCAATACTGGCTGGGCACTGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTCAGGTCAGGAGTTCAAGACAGCCTGGCCATCATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACATGCCTGAATCCCAGCTACCTGGTAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGCGGAGGTCGCAGTGAGGCAAGATCTGACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAACAAACAAAACAAAAAACTGAAACAGTCGATCATTGTCGATGTTGCTGTCCTTGGTGGTGGCGTGAATGCTCAGATGTGAGTTTTGTGACTGTCCTTGTTATTGTCACTGTTGTTCCTGCTGTGTGTCACTCTGAGCCCAGTGCCTGGCCCGCAGCAGGCACTAGGTGAGCGTTTGCTGTAACTCTCTCCTCCCCACCCCTCCCTGCTCATTGCAGATACGAGATCCTGACACCCAATGCCATCCCCAAGGGCTTCATGGATGGGAAGCAGGCCTGTGAAAAGATGGTGAGTGGGGCAGAGCCTGGAATGCGTGTGTGCGTGTGTGTGTGTGCGTGCATGAGTGTGCGTGCATGTGTGTGTGCATGCATATGTGTGCATGCGTGTGTGTGCAAGTGTGTGTGCATGCACGTGTGTGCGTGTGTGTGTGCATGCATATGTGTGCATGCGTGTGTGTGCATGTGTGTGTGTGCATGCGTTTGTGTGCAGGGGCCCAGGTGGTCGGGGAGTGGGGCTGGGATCTCCCCTTCATTGACCTTCCTCATTACCTCTCCCTATCACCGCCCCCACCCCCGCTTCCTCATCATCCCCTATCACCCCCCTCCCCGTCACCCCATCACCCCCTCCCCATCACCACTCCCCCATCGCCCCCTCCCTATAACTCTTCTCCCCTATCACCCTCCTCCACATCACCCCCTCCCCCATCACCCCCTCTCCCCAATCACCACCCCCTCCCAATCACTGCCCCTCCTCACCACCCCCCCATCATCCCCTGCCCCATCACCCCCTTCCTATAACTCCCCTCCCCTATCACTCTTCACATCACCCCC
Task1_train_27476
A variant on Chromosome 19 in gene MYH14 (myosin heavy chain 14) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
CTGAATCATGCCATGTAAAGCTCATCTCTCACTAAGGACCTTGGACTAACAGGCTTAAGAAACACTGGCCTTTGGCCAGGCATGGTGGCTCATGCCTATATCCCAACACTTTGGGAGGCTGAGGTGGGTGGATTACTTGAGGCCGGGAGTTGGAGACCAGCCTGGCCAACATAGCGAAACCCTCTCTACTGAAAGCACAAAAATTAGCCGGACGTGGTGGCATACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCCCACCACTGCACTCCAGCCTGGGCGAGAGAGCAAGACTCTGTCGAAAGGAAGGAAGGAAGGGAGGAAAAAAGGAAGGAAGGAAGGACTGTTCCACAGAATAGCAGCAGCCACAGTACACAGTGTCTCTTGGATGTGGAAGGATCCTTTAGCCAGAGAGATTAGATAGATCAATAGTGTATTTAGTGGTGCTTGCCTGTACCTGTCAGTGTTCTAGGCCTGTGACCAGGGACTGTTGCCAAGGCGGGGACACACAGCTAATAGGTGGAGGAGAAGGGATTTGAACCCAGAAACTCAAACCCCACTAAGAGTGTGAGGTCTTGGCGCCTGAAGTCAGCCATTCCACCCCTTTCACCTCCACCTAGGTGAAGCCACTGCTGCAGGTGACGCGGCAGGATGAGGTGCTGCAGGCACGGGCCCAGGAGCTGCAGAAAGTGCAGGAGCTACAGCAGCAGAGCGCCCGCGAAGTTGGGGAGCTCCAGGGCCGAGTGGCACAGGTGAGGGGGCGGGGGCAGGGCGTGGGGGCGTGTCTTCGGGGTGGGGCTGTGTCGCATGGGTGGAGCCAGGTGTGAGGGGCGGGGCTTCCGGCTGAGCCAGCCTGTGCCCAGGCAGGGCTGTCGGGAGGATGGGAGCAAAGCTAAGGTGTACTGAGGCCGGGCGGGGATTGGGGCTGTTTAGTTTGGTTGAGTCGTGACGTACAGGGAGCAGGGCCCTGGGGGTGTAGCCAGGGTATGGGCCGGGTAGGGGTGGGGTGGGAGAGTCCTGCAGAGCCAGAATGGAGCTGGGCTGTAGGATCTGGGGGCAGGGGCCTCAGCTGTGGCCGGGCTATGGTATGCAGGTGGCGAACTTATAACTGTTTCCAGTATTTCAGCTATCTTAAAATAATGCTAGAACATTTGGGAGGCTGACGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCACTCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCGGGTGTGATGGCGCACGCCTGTAATCCCAGCTACTCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGCGCCACCGCACTCCAGCCTGGTCGGCAGAGTGAGACTCTGTCTCAAAAATAATAATAATAATAATAATAATGCTAGAACAAACCCCTTCTTGAGCATTTTTCTGTTTGCCTTTTCTGCATTATTTCCTGTGGTTACATTTTAGGTATGAAATGTATTAAATGAAATGTGAGGTAGTAGAAAGACCCCTCGGGGGTTATTTGAAGGATGGACTGGAAGGGGAAAGGCTAGAGTCTGGGAGGCTGGGGAGGAGGCTGGAGAGAGACAGGTGAGAGAAGGAAAGACCTGAGCCTGTTGGGGCTGTAGGGACAGAGAGGAGGGGCCAGAGAGAGCAGGGGTGCAGACTGATGGCTGTGAGAGGTGAGGGAGGGCATCCCCAGGATTCTGACTTAGTGATTAGGGGGATGTGGGCTCATCCTGAGATGGGGACCTGAGGGGGAGGAGGTGGGGACACCGTGTCCTCCTGCCCCTCAGTCCTGCCCTGGAGAACTTAAAGGCCAAAGCAAGTTACAAGGCAGTAGGCACCCAGTGCAGGTTGCCCTGGGAGCACTGCCTGCTGACCACTAACCTCCCACACACTCCCCAGCTGGAAGAGGAGCGCGCCCGCCTGGCAGAGCAATTGCGAGCAGAGGCAGAACTGTGTGCAGAGGCCGAGGAGACGCGGGGGAGGCTGGCAGCCCGCAAGCAGGAGCTGGAGCTGGTGGTGTCAGAGCTGGAGGCTCGCGTGGGCGAGGAGGAGGAGTGCAGCCGTCAAATGCAAACCGAGAAGAAGAGGCTGCAGCAGCACATACAGGTCTGGCCCCTTGCATGCCCACCAGGCCACCCTCCAGACCCCTCTGTCTACACCATCCACCTTTGCTTCTACAAACCGTGTGTCTTTGGGCCATGAATTTGTAGAAAACTCAGTTCTAAGTGAATTTGCAAAAAGAATACATTTTTGATTCAGATCGCGGGAGACCTTAAAATGTGTGAGCTTCACCTATGGATGGATCCAGGCATCCAAGTGATATGTTCAGCTTCAGGCCTGGCTGGATCCAGGTGTCTGAGTGATTTCCTCAGCTTCAGGCATGGCTGGATGCAGGAATCCAAGTGATATCCTCAGCTTCAGGCATGGCTGGATCCAGGCGCCTAAGTGATGTCCTCAGCTTCAGGCATGGCTGGATCCAGGCATCCAAGTGATATCCTCAGCTTCAGGCATGGCTGGATCCAGGTGCCCAAGTGATGTCCTTAGCTTCAGGCATGGCTGGATCCAGGCATTCAGGCAATGTTCTCAGTACTCCCCCTCTCTCCGTCTCCTGGCTGCATTCACGGGCAGGCTGCCCTCATGGTTCCCCTTCAAAATCTAGTGTGTATTTTACACTACAGCACATCTCAATTCAGATGCTAAATTTTCATTGGAAATACTTGATCTGTATTTCTATTTCATAATTTCTGCAGTTTATAAAAACTAGATTCACATGGCCAAGTTGTTCCAAACATGCTTAAAAGCTTTTCAGTGATTGGGTGTCTGGTTTTAAATTTAAAATAAATAAAATTAAATAAGACAGAAAATTTAGTTCATCAGTCCACATCAGCCACATTTCAAAAGCTCAGTAATGTTTTTTTGTTTTTTGTTTTTTTGAGTCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAACCTCCGTCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCCTCTACAGCAGTATCTGGGATTACAGGTGTGTGCCACCATGCCCAGCTAATGTTTTTTTATTTTTAGTAGAGACAGGGTTTCAGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTTCCAAGGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCAGTAGTGTTTTAATCAACTTCTCTTGATCCCTTTGGTGAGGGAGGGACCCTACCCTAGGTTTATGGGGATGGCTGAGCACACAGCACTGGGCACCAGACAGGTGAGGGGGGCCGACATCACACCACAGACGGCCACATGGATGTTGCCCTCAAGAGCAGAGTGAACAAGCAGGGGCTGTGGGAAACAGGCTTTGTCACAACAACAGGTGGAGGTGACCCCTGGGTGCCGTGGGAAAATGTGTTTGGTTTGTTTCAGTAATTCCATGGGCTGGCAGGGAGCTGGAATGTGCTTCTCAGGGATAAGCAGGCACTGTGCCTGGTCCCCAGGATAAGGAGGGTCCCCAGATAAGGCTGGGGGACCTTATCTATGGGAGCAGAGGGAGTAGGAGGACTTCTGTTTAGGCCATTTGAGGCCCCTGCTACTTTTAGCAAATGTCAAGGCAGCACATAAAATTGAGTCTTGGCTAGGTGCAGTGGCTCAATGTGTAATCCCGGCACTTTGGGAGGATCTCTTAAGCCCAGAGGTTCAAGACCAGCCTAGGCAATGAAGTGAAACCCTTTCTCTACAAAAACAAAAACACAAAAATTAGCCAGGCATGGTGTCACACACCTGTGGTGTTGTCACACTACCCACGAGGCCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTGTGATGGCACCACTGCACTCCAGCCTGGATGACAGAGTGAGACCTTTCTCAAACAGAATAAAATAGGCTGGGCGCAATGGCTCACTCCTGTAATCCCAATACTTTGGGAGGCCGAGGTTGGTGGATCACCT
CTGAATCATGCCATGTAAAGCTCATCTCTCACTAAGGACCTTGGACTAACAGGCTTAAGAAACACTGGCCTTTGGCCAGGCATGGTGGCTCATGCCTATATCCCAACACTTTGGGAGGCTGAGGTGGGTGGATTACTTGAGGCCGGGAGTTGGAGACCAGCCTGGCCAACATAGCGAAACCCTCTCTACTGAAAGCACAAAAATTAGCCGGACGTGGTGGCATACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCCCACCACTGCACTCCAGCCTGGGCGAGAGAGCAAGACTCTGTCGAAAGGAAGGAAGGAAGGGAGGAAAAAAGGAAGGAAGGAAGGACTGTTCCACAGAATAGCAGCAGCCACAGTACACAGTGTCTCTTGGATGTGGAAGGATCCTTTAGCCAGAGAGATTAGATAGATCAATAGTGTATTTAGTGGTGCTTGCCTGTACCTGTCAGTGTTCTAGGCCTGTGACCAGGGACTGTTGCCAAGGCGGGGACACACAGCTAATAGGTGGAGGAGAAGGGATTTGAACCCAGAAACTCAAACCCCACTAAGAGTGTGAGGTCTTGGCGCCTGAAGTCAGCCATTCCACCCCTTTCACCTCCACCTAGGTGAAGCCACTGCTGCAGGTGACGCGGCAGGATGAGGTGCTGCAGGCACGGGCCCAGGAGCTGCAGAAAGTGCAGGAGCTACAGCAGCAGAGCGCCCGCGAAGTTGGGGAGCTCCAGGGCCGAGTGGCACAGGTGAGGGGGCGGGGGCAGGGCGTGGGGGCGTGTCTTCGGGGTGGGGCTGTGTCGCATGGGTGGAGCCAGGTGTGAGGGGCGGGGCTTCCGGCTGAGCCAGCCTGTGCCCAGGCAGGGCTGTCGGGAGGATGGGAGCAAAGCTAAGGTGTACTGAGGCCGGGCGGGGATTGGGGCTGTTTAGTTTGGTTGAGTCGTGACGTACAGGGAGCAGGGCCCTGGGGGTGTAGCCAGGGTATGGGCCGGGTAGGGGTGGGGTGGGAGAGTCCTGCAGAGCCAGAATGGAGCTGGGCTGTAGGATCTGGGGGCAGGGGCCTCAGCTGTGGCCGGGCTATGGTATGCAGGTGGCGAACTTATAACTGTTTCCAGTATTTCAGCTATCTTAAAATAATGCTAGAACATTTGGGAGGCTGACGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCACTCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGCCGGGTGTGATGGCGCACGCCTGTAATCCCAGCTACTCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGCGCCACCGCACTCCAGCCTGGTCGGCAGAGTGAGACTCTGTCTCAAAAATAATAATAATAATAATAATAATGCTAGAACAAACCCCTTCTTGAGCATTTTTCTGTTTGCCTTTTCTGCATTATTTCCTGTGGTTACATTTTAGGTATGAAATGTATTAAATGAAATGTGAGGTAGTAGAAAGACCCCTCGGGGGTTATTTGAAGGATGGACTGGAAGGGGAAAGGCTAGAGTCTGGGAGGCTGGGGAGGAGGCTGGAGAGAGACAGGTGAGAGAAGGAAAGACCTGAGCCTGTTGGGGCTGTAGGGACAGAGAGGAGGGGCCAGAGAGAGCAGGGGTGCAGACTGATGGCTGTGAGAGGTGAGGGAGGGCATCCCCAGGATTCTGACTTAGTGATTAGGGGGATGTGGGCTCATCCTGAGATGGGGACCTGAGGGGGAGGAGGTGGGGACACCGTGTCCTCCTGCCCCTCAGTCCTGCCCTGGAGAACTTAAAGGCCAAAGCAAGTTACAAGGCAGTAGGCACCCAGTGCAGGTTGCCCTGGGAGCACTGCCTGCTGACCACTAACCTCCCACACACTCCCCAGCTGGAAGAGGAGCGCGCCCGCCTGGCAGAGCAATTGCGAGCAGAGGCAGAACTGTGTGCAGAGGCCGAGGAGACGCGGGGGAGGCTGGCAGCCCTCAAGCAGGAGCTGGAGCTGGTGGTGTCAGAGCTGGAGGCTCGCGTGGGCGAGGAGGAGGAGTGCAGCCGTCAAATGCAAACCGAGAAGAAGAGGCTGCAGCAGCACATACAGGTCTGGCCCCTTGCATGCCCACCAGGCCACCCTCCAGACCCCTCTGTCTACACCATCCACCTTTGCTTCTACAAACCGTGTGTCTTTGGGCCATGAATTTGTAGAAAACTCAGTTCTAAGTGAATTTGCAAAAAGAATACATTTTTGATTCAGATCGCGGGAGACCTTAAAATGTGTGAGCTTCACCTATGGATGGATCCAGGCATCCAAGTGATATGTTCAGCTTCAGGCCTGGCTGGATCCAGGTGTCTGAGTGATTTCCTCAGCTTCAGGCATGGCTGGATGCAGGAATCCAAGTGATATCCTCAGCTTCAGGCATGGCTGGATCCAGGCGCCTAAGTGATGTCCTCAGCTTCAGGCATGGCTGGATCCAGGCATCCAAGTGATATCCTCAGCTTCAGGCATGGCTGGATCCAGGTGCCCAAGTGATGTCCTTAGCTTCAGGCATGGCTGGATCCAGGCATTCAGGCAATGTTCTCAGTACTCCCCCTCTCTCCGTCTCCTGGCTGCATTCACGGGCAGGCTGCCCTCATGGTTCCCCTTCAAAATCTAGTGTGTATTTTACACTACAGCACATCTCAATTCAGATGCTAAATTTTCATTGGAAATACTTGATCTGTATTTCTATTTCATAATTTCTGCAGTTTATAAAAACTAGATTCACATGGCCAAGTTGTTCCAAACATGCTTAAAAGCTTTTCAGTGATTGGGTGTCTGGTTTTAAATTTAAAATAAATAAAATTAAATAAGACAGAAAATTTAGTTCATCAGTCCACATCAGCCACATTTCAAAAGCTCAGTAATGTTTTTTTGTTTTTTGTTTTTTTGAGTCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAACCTCCGTCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCCTCTACAGCAGTATCTGGGATTACAGGTGTGTGCCACCATGCCCAGCTAATGTTTTTTTATTTTTAGTAGAGACAGGGTTTCAGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTTCCAAGGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCAGTAGTGTTTTAATCAACTTCTCTTGATCCCTTTGGTGAGGGAGGGACCCTACCCTAGGTTTATGGGGATGGCTGAGCACACAGCACTGGGCACCAGACAGGTGAGGGGGGCCGACATCACACCACAGACGGCCACATGGATGTTGCCCTCAAGAGCAGAGTGAACAAGCAGGGGCTGTGGGAAACAGGCTTTGTCACAACAACAGGTGGAGGTGACCCCTGGGTGCCGTGGGAAAATGTGTTTGGTTTGTTTCAGTAATTCCATGGGCTGGCAGGGAGCTGGAATGTGCTTCTCAGGGATAAGCAGGCACTGTGCCTGGTCCCCAGGATAAGGAGGGTCCCCAGATAAGGCTGGGGGACCTTATCTATGGGAGCAGAGGGAGTAGGAGGACTTCTGTTTAGGCCATTTGAGGCCCCTGCTACTTTTAGCAAATGTCAAGGCAGCACATAAAATTGAGTCTTGGCTAGGTGCAGTGGCTCAATGTGTAATCCCGGCACTTTGGGAGGATCTCTTAAGCCCAGAGGTTCAAGACCAGCCTAGGCAATGAAGTGAAACCCTTTCTCTACAAAAACAAAAACACAAAAATTAGCCAGGCATGGTGTCACACACCTGTGGTGTTGTCACACTACCCACGAGGCCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTGTGATGGCACCACTGCACTCCAGCCTGGATGACAGAGTGAGACCTTTCTCAAACAGAATAAAATAGGCTGGGCGCAATGGCTCACTCCTGTAATCCCAATACTTTGGGAGGCCGAGGTTGGTGGATCACCT
Task1_train_27477
Given this variant in gene MYH14 (myosin heavy chain 14) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; not provided
TTCAGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTTCCAAGGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCAGTAGTGTTTTAATCAACTTCTCTTGATCCCTTTGGTGAGGGAGGGACCCTACCCTAGGTTTATGGGGATGGCTGAGCACACAGCACTGGGCACCAGACAGGTGAGGGGGGCCGACATCACACCACAGACGGCCACATGGATGTTGCCCTCAAGAGCAGAGTGAACAAGCAGGGGCTGTGGGAAACAGGCTTTGTCACAACAACAGGTGGAGGTGACCCCTGGGTGCCGTGGGAAAATGTGTTTGGTTTGTTTCAGTAATTCCATGGGCTGGCAGGGAGCTGGAATGTGCTTCTCAGGGATAAGCAGGCACTGTGCCTGGTCCCCAGGATAAGGAGGGTCCCCAGATAAGGCTGGGGGACCTTATCTATGGGAGCAGAGGGAGTAGGAGGACTTCTGTTTAGGCCATTTGAGGCCCCTGCTACTTTTAGCAAATGTCAAGGCAGCACATAAAATTGAGTCTTGGCTAGGTGCAGTGGCTCAATGTGTAATCCCGGCACTTTGGGAGGATCTCTTAAGCCCAGAGGTTCAAGACCAGCCTAGGCAATGAAGTGAAACCCTTTCTCTACAAAAACAAAAACACAAAAATTAGCCAGGCATGGTGTCACACACCTGTGGTGTTGTCACACTACCCACGAGGCCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTGTGATGGCACCACTGCACTCCAGCCTGGATGACAGAGTGAGACCTTTCTCAAACAGAATAAAATAGGCTGGGCGCAATGGCTCACTCCTGTAATCCCAATACTTTGGGAGGCCGAGGTTGGTGGATCACCTGAAGTTAGGAGTTCAAGGCCAGTCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTAGCGGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAAAGTCACTTGAACCCCGGGAGGTGGAGATTGCAGTGAGCCAAGACTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAAAATTTAAACAGAATAAAATAAAATAAATTCAAAAAATAAAATTGAGTCTTGATTTCCAGTGTGCCCAATGACTGTCATGTTGGCAGTACCCATTTCTATAATTTGTGTATTTACTATGTTTATTTTATTTTTAAAATTATTTATTATTTATTTATTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATTTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCACTGCGCCTGACCTATTTACTATGTTTATAGTTTATAATCTGTACCCCTAACCCCCACACAAGAATGTGATTTCCACAAGGATAGGTGTTCCTTTTTTTTTTCAGAGGCAAGATCTCGCTCTGTTACCCAGACTTCAGTGCAGTGGTGCGGTCATCTCTCACTGCAGAAGGACAGTCACTTTTACCCATCCTCAGTGCCTAGAACCGTGCCTGGCATACACTAGGCACTCAATAAATGCTTGTTGCGCTAATGAATGAAATGGGAAAGCCAATAAGAGTTTGATCCTTCCCGGCCTCACCCAGGGCATGGACATCTCTGAACCACAAGCCGCGGGGATCCGTGGGCCAGCCATCCCCGCTCCCATCCTTCCCCATCACACTCCATCTATTGGCCCAGTATCCTCACTCCTCCTGCCTTCCCACCCCAGGAGCTAGAGGCCCACCTTGAGGCTGAGGAGGGTGCGCGGCAGAAGCTGCAGCTGGAGAAGGTGACGACAGAGGCAAAAATGAAGAAATTTGAAGAGGACCTGCTGCTCCTGGAAGACCAGAATTCCAAGCTGAGCAAGGTTGGGGGCCTGAGGGCAGCTGGGAAAGTGGGGATGGGGTGCATTGGTGGGTTAATGAATGGTGAACTTCACGCCATGGGGGTTACCACACTGCGGTTCTCAGGTGTGCACCGGTGGGGGTGGGATGGGTCTATAGCCCCAAGGGAATGGGAAGGAGAGGGAGGTGTAGGGGGAGGAAGGTCAGAGAAGGGTGAAAAGGAGCAGAAACATAGATGAGAACAACACCAGAAGCTGCAGATCAGGTAAGGGCTGCTCCTGGCCCAACTCCTCCTGACTGCCCCCCATCCCACTCCACCCCTCAGGAGCGGAAGCTGCTGGAAGATCGTCTGGCCGAGTTCTCATCCCAGGCAGCTGAGGAGGAGGAGAAGGTCAAGAGCCTCAATAAGCTACGGCTCAAATATGAGGCCACAATCGCAGACATGGAGGGTGAGCTCCCGCCCAGCCAGTAGGGGTCTGTGTGTGCTCTAATGGGGGACCTCAGGCAAGCCCCATGTGCTACAGGGCCTCAGTGGCTGTGTCTGCTAAATGGGATAGGAAGGAAGGCTCAGGGCAGATTGAGTGTCCTCCCAGCTCTTGAGTTCTTAATGCATCTCTAAATCCAACTCTCTTTCTCTCCTTGGTGTCTTGGGTTGTCCTCCTTTCTTCCCATCTGACTGTCCCACTGTCTGTCTGTTTCAGACATGTTTTTGTCTCCCTGTCCCTTCCTGTTGACTTAGAATCAGAAACAGAAGGGAAGGGGCACAGGGAGGAGGCAGGGCTGTAGACACAGGGCAGAGAGAGTCAGAGGGTGGAGGCATGGGCTGTTGGTGGGGATGAGGAGGAGAGGACAGTGCGTCTAGGACAACATTGTGGGAAGAGTCCCTGAGATAGATGGGGAAGGTGGGAGGAGGAGAAGGCGTTAAGGGAGGTGCTGAGCTTAGCCTTATATGTGACTGGGGACCTGTGGTCTCTGTGAGAGCGGCTGAGTGTGCAGGCCTGGAGTCCTCATGCACGGCCCCCACCCCTGCCTCCAGACCGCCTACGGAAGGAGGAGAAGGGTCGCCAGGAGCTGGAGAAGCTGAAGCGGAGGCTGGATGGGGAGAGCTCAGAGCTGCAGGAGCAGATGGTGGAGCAGCAACAGCGGGCAGAGGAGCTGCGGGCCCAGCTGGGCCGGAAGGAGGAGGAGCTGCAGGCTGCCCTGGCCAGGTGCAGGGTGGGGTGGGCTTGGTGGGGTAAGCAGCATGGGTGCACGGCCAGCCAGCGTGGGGTGCCCAAGTCAGAAGCTCCTGGGTACAAACCCCAGTGGAGCCACTCACCAGCCACAGACAGGCCACATCCCCTCCGAGCCTCAGTGTCCCCTTCTGTCAAATGAAGATAGCAAGAGTTCCAGGCCCACTAGGTTAAGGGAAAAGTGAAACAAGACTCTATGTGTCTGGTAACTTGCATAACAGTGCACAATGGGAACAAGAAAATGCTATTTCTAGGCCAAGTACGATGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAAACCAGCCTGGCTAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGACTTAAGCACGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCAACAGAGCAAGACTATGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCTATTTCTTCCTCTTCCCTGCTTGGCCTCCCCACACCAAACAGCCCAGAATCAGCTGAGATTTGCCAAGTGGCCTATGTTAGGAATCATAATAATTATATTTACACTCGTTCACAGTAATTGAGCTCCTACTGTATGCCAAATGTGGTGCTT
TTCAGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTTCCAAGGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCAGTAGTGTTTTAATCAACTTCTCTTGATCCCTTTGGTGAGGGAGGGACCCTACCCTAGGTTTATGGGGATGGCTGAGCACACAGCACTGGGCACCAGACAGGTGAGGGGGGCCGACATCACACCACAGACGGCCACATGGATGTTGCCCTCAAGAGCAGAGTGAACAAGCAGGGGCTGTGGGAAACAGGCTTTGTCACAACAACAGGTGGAGGTGACCCCTGGGTGCCGTGGGAAAATGTGTTTGGTTTGTTTCAGTAATTCCATGGGCTGGCAGGGAGCTGGAATGTGCTTCTCAGGGATAAGCAGGCACTGTGCCTGGTCCCCAGGATAAGGAGGGTCCCCAGATAAGGCTGGGGGACCTTATCTATGGGAGCAGAGGGAGTAGGAGGACTTCTGTTTAGGCCATTTGAGGCCCCTGCTACTTTTAGCAAATGTCAAGGCAGCACATAAAATTGAGTCTTGGCTAGGTGCAGTGGCTCAATGTGTAATCCCGGCACTTTGGGAGGATCTCTTAAGCCCAGAGGTTCAAGACCAGCCTAGGCAATGAAGTGAAACCCTTTCTCTACAAAAACAAAAACACAAAAATTAGCCAGGCATGGTGTCACACACCTGTGGTGTTGTCACACTACCCACGAGGCCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTGTGATGGCACCACTGCACTCCAGCCTGGATGACAGAGTGAGACCTTTCTCAAACAGAATAAAATAGGCTGGGCGCAATGGCTCACTCCTGTAATCCCAATACTTTGGGAGGCCGAGGTTGGTGGATCACCTGAAGTTAGGAGTTCAAGGCCAGTCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTAGCGGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAAAGTCACTTGAACCCCGGGAGGTGGAGATTGCAGTGAGCCAAGACTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAAAAATTTAAACAGAATAAAATAAAATAAATTCAAAAAATAAAATTGAGTCTTGATTTCCAGTGTGCCCAATGACTGTCATGTTGGCAGTACCCATTTCTATAATTTGTGTATTTACTATGTTTATTTTATTTTTAAAATTATTTATTATTTATTTATTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATTTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTGCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCACTGCGCCTGACCTATTTACTATGTTTATAGTTTATAATCTGTACCCCTAACCCCCACACAAGAATGTGATTTCCACAAGGATAGGTGTTCCTTTTTTTTTTCAGAGGCAAGATCTCGCTCTGTTACCCAGACTTCAGTGCAGTGGTGCGGTCATCTCTCACTGCAGAAGGACAGTCACTTTTACCCATCCTCAGTGCCTAGAACCGTGCCTGGCATACACTAGGCACTCAATAAATGCTTGTTGCGCTAATGAATGAAATGGGAAAGCCAATAAGAGTTTGATCCTTCCCGGCCTCACCCAGGGCATGGACATCTCTGAACCACAAGCCGCGGGGATCCGTGGGCCAGCCATCCCCGCTCCCATCCTTCCCCATCACACTCCATCTATTGGCCCAGTATCCTCACTCCTCCTGCCTTCCCACCCCAGGAGCTAGAGGCCCACTTTGAGGCTGAGGAGGGTGCGCGGCAGAAGCTGCAGCTGGAGAAGGTGACGACAGAGGCAAAAATGAAGAAATTTGAAGAGGACCTGCTGCTCCTGGAAGACCAGAATTCCAAGCTGAGCAAGGTTGGGGGCCTGAGGGCAGCTGGGAAAGTGGGGATGGGGTGCATTGGTGGGTTAATGAATGGTGAACTTCACGCCATGGGGGTTACCACACTGCGGTTCTCAGGTGTGCACCGGTGGGGGTGGGATGGGTCTATAGCCCCAAGGGAATGGGAAGGAGAGGGAGGTGTAGGGGGAGGAAGGTCAGAGAAGGGTGAAAAGGAGCAGAAACATAGATGAGAACAACACCAGAAGCTGCAGATCAGGTAAGGGCTGCTCCTGGCCCAACTCCTCCTGACTGCCCCCCATCCCACTCCACCCCTCAGGAGCGGAAGCTGCTGGAAGATCGTCTGGCCGAGTTCTCATCCCAGGCAGCTGAGGAGGAGGAGAAGGTCAAGAGCCTCAATAAGCTACGGCTCAAATATGAGGCCACAATCGCAGACATGGAGGGTGAGCTCCCGCCCAGCCAGTAGGGGTCTGTGTGTGCTCTAATGGGGGACCTCAGGCAAGCCCCATGTGCTACAGGGCCTCAGTGGCTGTGTCTGCTAAATGGGATAGGAAGGAAGGCTCAGGGCAGATTGAGTGTCCTCCCAGCTCTTGAGTTCTTAATGCATCTCTAAATCCAACTCTCTTTCTCTCCTTGGTGTCTTGGGTTGTCCTCCTTTCTTCCCATCTGACTGTCCCACTGTCTGTCTGTTTCAGACATGTTTTTGTCTCCCTGTCCCTTCCTGTTGACTTAGAATCAGAAACAGAAGGGAAGGGGCACAGGGAGGAGGCAGGGCTGTAGACACAGGGCAGAGAGAGTCAGAGGGTGGAGGCATGGGCTGTTGGTGGGGATGAGGAGGAGAGGACAGTGCGTCTAGGACAACATTGTGGGAAGAGTCCCTGAGATAGATGGGGAAGGTGGGAGGAGGAGAAGGCGTTAAGGGAGGTGCTGAGCTTAGCCTTATATGTGACTGGGGACCTGTGGTCTCTGTGAGAGCGGCTGAGTGTGCAGGCCTGGAGTCCTCATGCACGGCCCCCACCCCTGCCTCCAGACCGCCTACGGAAGGAGGAGAAGGGTCGCCAGGAGCTGGAGAAGCTGAAGCGGAGGCTGGATGGGGAGAGCTCAGAGCTGCAGGAGCAGATGGTGGAGCAGCAACAGCGGGCAGAGGAGCTGCGGGCCCAGCTGGGCCGGAAGGAGGAGGAGCTGCAGGCTGCCCTGGCCAGGTGCAGGGTGGGGTGGGCTTGGTGGGGTAAGCAGCATGGGTGCACGGCCAGCCAGCGTGGGGTGCCCAAGTCAGAAGCTCCTGGGTACAAACCCCAGTGGAGCCACTCACCAGCCACAGACAGGCCACATCCCCTCCGAGCCTCAGTGTCCCCTTCTGTCAAATGAAGATAGCAAGAGTTCCAGGCCCACTAGGTTAAGGGAAAAGTGAAACAAGACTCTATGTGTCTGGTAACTTGCATAACAGTGCACAATGGGAACAAGAAAATGCTATTTCTAGGCCAAGTACGATGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAAACCAGCCTGGCTAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGACTTAAGCACGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCTAGCCTGGGCAACAGAGCAAGACTATGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCTATTTCTTCCTCTTCCCTGCTTGGCCTCCCCACACCAAACAGCCCAGAATCAGCTGAGATTTGCCAAGTGGCCTATGTTAGGAATCATAATAATTATATTTACACTCGTTCACAGTAATTGAGCTCCTACTGTATGCCAAATGTGGTGCTT
Task1_train_27478
The gene KCNC3 (potassium voltage-gated channel subfamily C member 3) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; not provided
GGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGTGGCTGTTCAGGGAAGAGTGCTGGGCTCTGGGAAGGGCACCAAGGGGAAGGGCTAGGTTAGGTGAGAGATGGGAGGTGGGACGTGGGGGTCCCCTAGGCTCTGACTCCAGCTATTTTTAACTGGTGTGAAACTGGGTCAGCGGCTGAGGGAGCAAGATGGGGGCCAAGTGGCCCAGCTCCCTTTCTTGACCTACTTAAGGCGGGGCAGTGCAGGGGGGGGCCACCAGCCTCTCCTTCCTCCTAGACTCCCAAGCCACTGCCTCTGAGGCATAGACACCCCCTGGGGGAGGAACACACACAGAAGCACAGGTAACTTTCTTCTCCCTCATCTCTCGCTTGTCTCTTCCTCTGAGCAGCACCTCTCTGGATCTCTCTTTGGGACCCTCCCAGGCTGCCCACAGCAAAGCCGACTGACCAGGCCCTGGTTTCCGTTCTGCCCTGGGGGATCTGCCCTGGCCTGACTCTCCGTTTTGAAGTCTGTCTGCCTCTTGGGCTTGCTGTCATTAGAACCCAAACTCTCTGCCGCTGACCGCCCCCACCTCCGCCCAAAATCTACATCCCATCTCTCTCTGGTCTCCATGACAATCTCTCGGTTTCTGACTCCCCGCCTCAGACCCTATCGGCTTCAGTCTCTCTTCCCTCAGGGCTGTCTCCCGGATGCTCAGATGCTGCTACGTTCCCTGGGGTTCTGCCTCGGGTCTGCCTGTGATTCCTGTGAGACCCTCTTTCTGTGTCTCTCTGAGCCCCACGCTCCTCCGGGTCCCTCTCTCTGCACAGCTGATGACACTGCCTCTGCCTCGCCAGCCCCTCTGAATATCTTGCAAATCTGTTTCTCCCCAAAACTCTTTCCCATGAAACCTATGTCTCTGTGTGATTATCTGTGCCTCCTTCTTCGCCTGAGCTCCTGCTGTTGGTTTTTTTCTCCCTCACCTCTTCGACGCCAACCACCCCAGGTTCTCTGAACCCCGGCAGCTACCTCCCCAGTCCTCCCCGGGTCTCCACCTGTGCCCCCGATCCCTGACGCCCAGGCTCACCTGCCCGGTTGATCTCAATCACCTCCTCCTGAGCCAACGGGCAAGGCTCGCCGGGGGCTGGCAGAGGAGGCAGCCCCATGATCCCCAGCCCACCCGCTCCCCCCCTGAGCAGCCCGGGGTGCGTGTGGGGCCCCGCTGGGTAGGCCCCGGCCACAGTCACCCCCATGGAGGGTGGGGTGATGGGTGGCGGCGGGCTGATGCCCCCGCTGCCGTGGTGCGGGTGGGGCGGGGGTGGCGGGGGTGGGTCAGGCTTGCAGTAGTTGGGCGAGCCCGGTTGCGGGGGCCGGGGGATGTGTTTGTTCTTCTTCTTGGGCAGCTTCTGCTTGGCCATGGCCAGCGAATAGTACATGCCAAAGTTGTTGACAATGACGGGCACAGGCATGGCGATGGTCAGCACCCCCGCCAGGGCACACAGCGCCCCGACCAGCATCCCCGACCACGTCTTGGGGTACATGTCTCCATAGCCCAGGGTCGTCATGGTGACCACAGCCCACCAGAAGCCAATGGGGATGTTCTTGAAGTAGGTGTGGTTGGAGCCCAGGATGTCATCGGGGTCGGCGCCAATGCGCTCAGCGTAGTAAATCATGGTGGCGAAGATGAGCACCCCCAGGGCCAGGAAGATGATGAGCAGCAGGAACTCGTTGGTGCTGGCGCGGAGCGTGTGTCCCAGCACGCGCAGCCCCACGAAGTGCCGGGTCAGCTTGAAGATGCGCAGGATGCGGACGAAGCGGACCACCCGCAGGAAGCCCAGCACGTCTTTGGCGGCCTTGGAGCTGAGGCCCGAGAGGCCCACCTCGAGATAGAAGGGCAGGATGGCCACACAGTCGATGATGTTGAGGCTGCTTTTAAGAAACTCCACCTTGTCTGGGCAGAAGGTGATGCGCATGAGGAACTCGAAGGTGAACCAGACCACGCACACCCCCTCCACGTAGGTCAGGAAGGGCTCCGTCTCCACCTCCACGTTGGTGATGTTCTCCGGAGGTGCCCCGGGGATCGGGGAGGCCTGGGTCACCGTCTTGTTGCTAATATGGATGAAGCCCTCATGGGTTTCCAGGCAGAAGGTGGTGATGGAGATGAGGATGAAGAAGAGGGAGGCGAAGGCCACATACTGCAGGGCAGGGAGGGAGAGAGAGGGGGAGAGGTGACCTAGGCATCAGGTTGGCCATAACATCCAGAAGACCCTTCCAGTGCCCCCTTCCCCAGCCTCCTGGGCCCAAACTCTGGGCAAAATCCAGGTGTCTCAGCCCTGTGGCTCCATCACTTCCAGAATCCCATTCTCCCCTCTAAAGCTAGCAAAAAGGGAGAGAAAGGAACAGAGGCAGTTGGAGAAGAGCTGGCCCCAGCAGACGCAGCAGATGGGCAGCTTCTTTCCTTGGAAACATTTCTGGCCCCTTGCTGTTTCCTAGACCACCTCCCCCCACCCTCCTGTTCCCTGTGTCCTATTTCAGGGCCCCCCAGCAGGGTCCACGGGTTCTGCTGTGGGACGGGAGCCGCCAGGCCTAAGATCACACATCCTGTGTGTCTCGGAGGCTTTAGGGCTCAGCTTGGAGCTGGGCAGACGGGAAGGGAGAAGGCGGGCAGGGAGGCAGAATCGTGAGGTGGTTAAGAGTCGGCGAGCCTGGGCATGAATCTGGCTTTTAACCTGTCAAAACTGGGCAAGGAGACTGAGCTTTCTGAACCAGAAGTTTGTAGTGGGATTGTTGTGAGGATTAAATTAGATGAGCGTACGAAGGACTTGGCTCCAAACACAGTGCTTGGAGCAGTGCCTGGAACACAGTAAGAAGACCTGAGCTGTTGTTAGGGTATGCAGGCAGCAGTTAGTTGGGGGGCAAGGTCAAGGCCTCACCCAGAGAGGACAGGGCAGTGGTGGTGCCACAGAGGGGAGGTGGGGGTCCGGGCCCTTAAGGGAGGAGGGGTTGAAGGGTTAAGCCTGCAAAAATGGAAGAGGAGATAAAAGAGGAGAGTCAGGCAGGGTTTAGGGCCCTGAAGAGGAAGGAGAGTCACTGGCCTGGACATTGTGGGAAAAGGCAGAGCCAGGGCCAAAGAGAAGTTAGGGCATTTGCCAAAGGGGCAGAGAATGAGGGGTGAAGGGTCCTGAGCCATTTCAAGATGGGGGATAACCAGAGTCCTGCCACACAGTGATGTGGGTTTTGATGAAGGCCTAGAAGAGGAGGGAGTGGGGTCAGGGTCTTGGAGAAGGAAAGCAATGGGCCAGGCCCCTAGAGATGTCATGGGCTTTATCAGATATGCAGAGGGGTGGGAGGGGAGAGGAGTGCATTGGAGAGGGAAGGAAGACAGGTGTTATAGTAAAGAGAGGGTTTTAATCCTGCGGGTAGTGGAGGAGGGAGGGCATGGGGAGTTTTGCTATTAATCAGGGGCACAGAGCACGGGGAGGCCACTGCTGGACCACAGAGAGGACCTTGGACTTTGGGGTGGGCCAAGGGCCAGCACTGTCCCTCTGTGCACCCCCCTTCCTCCACAGGGGTTGGGCTCTGGGCTTGACTTCACTGAGGTGCAGAGCTGGGAAGTAGTGGGTGGAGAGTTTCGGGGCCACAGAGAGGACCCTGGACGTTGGGGTGGGCTGGGGGCCGGCGCAGGTCCTCTCTGAACTCCCCCCCCACCCCCACCTTCGCTTCTCTGCAGTGGTTTAAGAGGCCAGAGGCCTTCGCAGAGCGCATGCCT
GGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGTGGCTGTTCAGGGAAGAGTGCTGGGCTCTGGGAAGGGCACCAAGGGGAAGGGCTAGGTTAGGTGAGAGATGGGAGGTGGGACGTGGGGGTCCCCTAGGCTCTGACTCCAGCTATTTTTAACTGGTGTGAAACTGGGTCAGCGGCTGAGGGAGCAAGATGGGGGCCAAGTGGCCCAGCTCCCTTTCTTGACCTACTTAAGGCGGGGCAGTGCAGGGGGGGGCCACCAGCCTCTCCTTCCTCCTAGACTCCCAAGCCACTGCCTCTGAGGCATAGACACCCCCTGGGGGAGGAACACACACAGAAGCACAGGTAACTTTCTTCTCCCTCATCTCTCGCTTGTCTCTTCCTCTGAGCAGCACCTCTCTGGATCTCTCTTTGGGACCCTCCCAGGCTGCCCACAGCAAAGCCGACTGACCAGGCCCTGGTTTCCGTTCTGCCCTGGGGGATCTGCCCTGGCCTGACTCTCCGTTTTGAAGTCTGTCTGCCTCTTGGGCTTGCTGTCATTAGAACCCAAACTCTCTGCCGCTGACCGCCCCCACCTCCGCCCAAAATCTACATCCCATCTCTCTCTGGTCTCCATGACAATCTCTCGGTTTCTGACTCCCCGCCTCAGACCCTATCGGCTTCAGTCTCTCTTCCCTCAGGGCTGTCTCCCGGATGCTCAGATGCTGCTACGTTCCCTGGGGTTCTGCCTCGGGTCTGCCTGTGATTCCTGTGAGACCCTCTTTCTGTGTCTCTCTGAGCCCCACGCTCCTCCGGGTCCCTCTCTCTGCACAGCTGATGACACTGCCTCTGCCTCGCCAGCCCCTCTGAATATCTTGCAAATCTGTTTCTCCCCAAAACTCTTTCCCATGAAACCTATGTCTCTGTGTGATTATCTGTGCCTCCTTCTTCGCCTGAGCTCCTGCTGTTGGTTTTTTTCTCCCTCACCTCTTCGACGCCAACCACCCCAGGTTCTCTGAACCCCGGCAGCTACCTCCCCAGTCCTCCCCGGGTCTCCACCTGTGCCCCCGATCCCTGACGCCCAGGCTCACCTGCCCGGTTGATCTCAATCACCTCCTCCTGAGCCAACGGGCAAGGCTCGCCGGGGGCTGGCAGAGGAGGCAGCCCCATGATCCCCAGCCCACCCGCTCCCCCCCTGAGCAGCCCGGGGTGCGTGTGGGGCCCCGCTGGGTAGGCCCCGGCCACAGTCACCCCCATGGAGGGTGGGGTGATGGGTGGCGGCGGGCTGATGCCCCCGCTGCCGTGGTGCGGGTGGGGCGGGGGTGGCGGGGGTGGGTCAGGCTTGCAGTAGTTGGGCGAGCCCGGTTGCGGGGGCCGGGGGATGTGTTTGTTCTTCTTCTTGGGCAGCTTCTGCTTGGCCATGGCCAGCGAATAGTACATGCCAAAGTTGTTGACAATGACGGGCACAGGCATGGCGATGGTCAGCACCCCCGCCAGGGCACACAGCGCCCCGACCAGCATCCCCGACCACGTCTTGGGGTACATGTCTCCATAGCCCAGGGTCGTCATGGTGACCACAGCCCACCAGAAGCCAATGGGGATGTTCTTGAAGTAGGTGTGGTTGGAGCCCAGGATGTCATCGGGGTCGGCGCCAATGCGCTCAGCGTAGTAAATCATGGTGGCGAAGATGAGCACCCCCAGGGCCAGGAAGATGATGAGCAGCAGCAACTCGTTGGTGCTGGCGCGGAGCGTGTGTCCCAGCACGCGCAGCCCCACGAAGTGCCGGGTCAGCTTGAAGATGCGCAGGATGCGGACGAAGCGGACCACCCGCAGGAAGCCCAGCACGTCTTTGGCGGCCTTGGAGCTGAGGCCCGAGAGGCCCACCTCGAGATAGAAGGGCAGGATGGCCACACAGTCGATGATGTTGAGGCTGCTTTTAAGAAACTCCACCTTGTCTGGGCAGAAGGTGATGCGCATGAGGAACTCGAAGGTGAACCAGACCACGCACACCCCCTCCACGTAGGTCAGGAAGGGCTCCGTCTCCACCTCCACGTTGGTGATGTTCTCCGGAGGTGCCCCGGGGATCGGGGAGGCCTGGGTCACCGTCTTGTTGCTAATATGGATGAAGCCCTCATGGGTTTCCAGGCAGAAGGTGGTGATGGAGATGAGGATGAAGAAGAGGGAGGCGAAGGCCACATACTGCAGGGCAGGGAGGGAGAGAGAGGGGGAGAGGTGACCTAGGCATCAGGTTGGCCATAACATCCAGAAGACCCTTCCAGTGCCCCCTTCCCCAGCCTCCTGGGCCCAAACTCTGGGCAAAATCCAGGTGTCTCAGCCCTGTGGCTCCATCACTTCCAGAATCCCATTCTCCCCTCTAAAGCTAGCAAAAAGGGAGAGAAAGGAACAGAGGCAGTTGGAGAAGAGCTGGCCCCAGCAGACGCAGCAGATGGGCAGCTTCTTTCCTTGGAAACATTTCTGGCCCCTTGCTGTTTCCTAGACCACCTCCCCCCACCCTCCTGTTCCCTGTGTCCTATTTCAGGGCCCCCCAGCAGGGTCCACGGGTTCTGCTGTGGGACGGGAGCCGCCAGGCCTAAGATCACACATCCTGTGTGTCTCGGAGGCTTTAGGGCTCAGCTTGGAGCTGGGCAGACGGGAAGGGAGAAGGCGGGCAGGGAGGCAGAATCGTGAGGTGGTTAAGAGTCGGCGAGCCTGGGCATGAATCTGGCTTTTAACCTGTCAAAACTGGGCAAGGAGACTGAGCTTTCTGAACCAGAAGTTTGTAGTGGGATTGTTGTGAGGATTAAATTAGATGAGCGTACGAAGGACTTGGCTCCAAACACAGTGCTTGGAGCAGTGCCTGGAACACAGTAAGAAGACCTGAGCTGTTGTTAGGGTATGCAGGCAGCAGTTAGTTGGGGGGCAAGGTCAAGGCCTCACCCAGAGAGGACAGGGCAGTGGTGGTGCCACAGAGGGGAGGTGGGGGTCCGGGCCCTTAAGGGAGGAGGGGTTGAAGGGTTAAGCCTGCAAAAATGGAAGAGGAGATAAAAGAGGAGAGTCAGGCAGGGTTTAGGGCCCTGAAGAGGAAGGAGAGTCACTGGCCTGGACATTGTGGGAAAAGGCAGAGCCAGGGCCAAAGAGAAGTTAGGGCATTTGCCAAAGGGGCAGAGAATGAGGGGTGAAGGGTCCTGAGCCATTTCAAGATGGGGGATAACCAGAGTCCTGCCACACAGTGATGTGGGTTTTGATGAAGGCCTAGAAGAGGAGGGAGTGGGGTCAGGGTCTTGGAGAAGGAAAGCAATGGGCCAGGCCCCTAGAGATGTCATGGGCTTTATCAGATATGCAGAGGGGTGGGAGGGGAGAGGAGTGCATTGGAGAGGGAAGGAAGACAGGTGTTATAGTAAAGAGAGGGTTTTAATCCTGCGGGTAGTGGAGGAGGGAGGGCATGGGGAGTTTTGCTATTAATCAGGGGCACAGAGCACGGGGAGGCCACTGCTGGACCACAGAGAGGACCTTGGACTTTGGGGTGGGCCAAGGGCCAGCACTGTCCCTCTGTGCACCCCCCTTCCTCCACAGGGGTTGGGCTCTGGGCTTGACTTCACTGAGGTGCAGAGCTGGGAAGTAGTGGGTGGAGAGTTTCGGGGCCACAGAGAGGACCCTGGACGTTGGGGTGGGCTGGGGGCCGGCGCAGGTCCTCTCTGAACTCCCCCCCCACCCCCACCTTCGCTTCTCTGCAGTGGTTTAAGAGGCCAGAGGCCTTCGCAGAGCGCATGCCT
Task1_train_27479
Mutation context: Chromosome 19, Gene KCNC3 (potassium voltage-gated channel subfamily C member 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Spinocerebellar ataxia type 13
GGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGTGGCTGTTCAGGGAAGAGTGCTGGGCTCTGGGAAGGGCACCAAGGGGAAGGGCTAGGTTAGGTGAGAGATGGGAGGTGGGACGTGGGGGTCCCCTAGGCTCTGACTCCAGCTATTTTTAACTGGTGTGAAACTGGGTCAGCGGCTGAGGGAGCAAGATGGGGGCCAAGTGGCCCAGCTCCCTTTCTTGACCTACTTAAGGCGGGGCAGTGCAGGGGGGGGCCACCAGCCTCTCCTTCCTCCTAGACTCCCAAGCCACTGCCTCTGAGGCATAGACACCCCCTGGGGGAGGAACACACACAGAAGCACAGGTAACTTTCTTCTCCCTCATCTCTCGCTTGTCTCTTCCTCTGAGCAGCACCTCTCTGGATCTCTCTTTGGGACCCTCCCAGGCTGCCCACAGCAAAGCCGACTGACCAGGCCCTGGTTTCCGTTCTGCCCTGGGGGATCTGCCCTGGCCTGACTCTCCGTTTTGAAGTCTGTCTGCCTCTTGGGCTTGCTGTCATTAGAACCCAAACTCTCTGCCGCTGACCGCCCCCACCTCCGCCCAAAATCTACATCCCATCTCTCTCTGGTCTCCATGACAATCTCTCGGTTTCTGACTCCCCGCCTCAGACCCTATCGGCTTCAGTCTCTCTTCCCTCAGGGCTGTCTCCCGGATGCTCAGATGCTGCTACGTTCCCTGGGGTTCTGCCTCGGGTCTGCCTGTGATTCCTGTGAGACCCTCTTTCTGTGTCTCTCTGAGCCCCACGCTCCTCCGGGTCCCTCTCTCTGCACAGCTGATGACACTGCCTCTGCCTCGCCAGCCCCTCTGAATATCTTGCAAATCTGTTTCTCCCCAAAACTCTTTCCCATGAAACCTATGTCTCTGTGTGATTATCTGTGCCTCCTTCTTCGCCTGAGCTCCTGCTGTTGGTTTTTTTCTCCCTCACCTCTTCGACGCCAACCACCCCAGGTTCTCTGAACCCCGGCAGCTACCTCCCCAGTCCTCCCCGGGTCTCCACCTGTGCCCCCGATCCCTGACGCCCAGGCTCACCTGCCCGGTTGATCTCAATCACCTCCTCCTGAGCCAACGGGCAAGGCTCGCCGGGGGCTGGCAGAGGAGGCAGCCCCATGATCCCCAGCCCACCCGCTCCCCCCCTGAGCAGCCCGGGGTGCGTGTGGGGCCCCGCTGGGTAGGCCCCGGCCACAGTCACCCCCATGGAGGGTGGGGTGATGGGTGGCGGCGGGCTGATGCCCCCGCTGCCGTGGTGCGGGTGGGGCGGGGGTGGCGGGGGTGGGTCAGGCTTGCAGTAGTTGGGCGAGCCCGGTTGCGGGGGCCGGGGGATGTGTTTGTTCTTCTTCTTGGGCAGCTTCTGCTTGGCCATGGCCAGCGAATAGTACATGCCAAAGTTGTTGACAATGACGGGCACAGGCATGGCGATGGTCAGCACCCCCGCCAGGGCACACAGCGCCCCGACCAGCATCCCCGACCACGTCTTGGGGTACATGTCTCCATAGCCCAGGGTCGTCATGGTGACCACAGCCCACCAGAAGCCAATGGGGATGTTCTTGAAGTAGGTGTGGTTGGAGCCCAGGATGTCATCGGGGTCGGCGCCAATGCGCTCAGCGTAGTAAATCATGGTGGCGAAGATGAGCACCCCCAGGGCCAGGAAGATGATGAGCAGCAGGAACTCGTTGGTGCTGGCGCGGAGCGTGTGTCCCAGCACGCGCAGCCCCACGAAGTGCCGGGTCAGCTTGAAGATGCGCAGGATGCGGACGAAGCGGACCACCCGCAGGAAGCCCAGCACGTCTTTGGCGGCCTTGGAGCTGAGGCCCGAGAGGCCCACCTCGAGATAGAAGGGCAGGATGGCCACACAGTCGATGATGTTGAGGCTGCTTTTAAGAAACTCCACCTTGTCTGGGCAGAAGGTGATGCGCATGAGGAACTCGAAGGTGAACCAGACCACGCACACCCCCTCCACGTAGGTCAGGAAGGGCTCCGTCTCCACCTCCACGTTGGTGATGTTCTCCGGAGGTGCCCCGGGGATCGGGGAGGCCTGGGTCACCGTCTTGTTGCTAATATGGATGAAGCCCTCATGGGTTTCCAGGCAGAAGGTGGTGATGGAGATGAGGATGAAGAAGAGGGAGGCGAAGGCCACATACTGCAGGGCAGGGAGGGAGAGAGAGGGGGAGAGGTGACCTAGGCATCAGGTTGGCCATAACATCCAGAAGACCCTTCCAGTGCCCCCTTCCCCAGCCTCCTGGGCCCAAACTCTGGGCAAAATCCAGGTGTCTCAGCCCTGTGGCTCCATCACTTCCAGAATCCCATTCTCCCCTCTAAAGCTAGCAAAAAGGGAGAGAAAGGAACAGAGGCAGTTGGAGAAGAGCTGGCCCCAGCAGACGCAGCAGATGGGCAGCTTCTTTCCTTGGAAACATTTCTGGCCCCTTGCTGTTTCCTAGACCACCTCCCCCCACCCTCCTGTTCCCTGTGTCCTATTTCAGGGCCCCCCAGCAGGGTCCACGGGTTCTGCTGTGGGACGGGAGCCGCCAGGCCTAAGATCACACATCCTGTGTGTCTCGGAGGCTTTAGGGCTCAGCTTGGAGCTGGGCAGACGGGAAGGGAGAAGGCGGGCAGGGAGGCAGAATCGTGAGGTGGTTAAGAGTCGGCGAGCCTGGGCATGAATCTGGCTTTTAACCTGTCAAAACTGGGCAAGGAGACTGAGCTTTCTGAACCAGAAGTTTGTAGTGGGATTGTTGTGAGGATTAAATTAGATGAGCGTACGAAGGACTTGGCTCCAAACACAGTGCTTGGAGCAGTGCCTGGAACACAGTAAGAAGACCTGAGCTGTTGTTAGGGTATGCAGGCAGCAGTTAGTTGGGGGGCAAGGTCAAGGCCTCACCCAGAGAGGACAGGGCAGTGGTGGTGCCACAGAGGGGAGGTGGGGGTCCGGGCCCTTAAGGGAGGAGGGGTTGAAGGGTTAAGCCTGCAAAAATGGAAGAGGAGATAAAAGAGGAGAGTCAGGCAGGGTTTAGGGCCCTGAAGAGGAAGGAGAGTCACTGGCCTGGACATTGTGGGAAAAGGCAGAGCCAGGGCCAAAGAGAAGTTAGGGCATTTGCCAAAGGGGCAGAGAATGAGGGGTGAAGGGTCCTGAGCCATTTCAAGATGGGGGATAACCAGAGTCCTGCCACACAGTGATGTGGGTTTTGATGAAGGCCTAGAAGAGGAGGGAGTGGGGTCAGGGTCTTGGAGAAGGAAAGCAATGGGCCAGGCCCCTAGAGATGTCATGGGCTTTATCAGATATGCAGAGGGGTGGGAGGGGAGAGGAGTGCATTGGAGAGGGAAGGAAGACAGGTGTTATAGTAAAGAGAGGGTTTTAATCCTGCGGGTAGTGGAGGAGGGAGGGCATGGGGAGTTTTGCTATTAATCAGGGGCACAGAGCACGGGGAGGCCACTGCTGGACCACAGAGAGGACCTTGGACTTTGGGGTGGGCCAAGGGCCAGCACTGTCCCTCTGTGCACCCCCCTTCCTCCACAGGGGTTGGGCTCTGGGCTTGACTTCACTGAGGTGCAGAGCTGGGAAGTAGTGGGTGGAGAGTTTCGGGGCCACAGAGAGGACCCTGGACGTTGGGGTGGGCTGGGGGCCGGCGCAGGTCCTCTCTGAACTCCCCCCCCACCCCCACCTTCGCTTCTCTGCAGTGGTTTAAGAGGCCAGAGGCCTTCGCAGAGCGCATGCCT
GGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGTGGCTGTTCAGGGAAGAGTGCTGGGCTCTGGGAAGGGCACCAAGGGGAAGGGCTAGGTTAGGTGAGAGATGGGAGGTGGGACGTGGGGGTCCCCTAGGCTCTGACTCCAGCTATTTTTAACTGGTGTGAAACTGGGTCAGCGGCTGAGGGAGCAAGATGGGGGCCAAGTGGCCCAGCTCCCTTTCTTGACCTACTTAAGGCGGGGCAGTGCAGGGGGGGGCCACCAGCCTCTCCTTCCTCCTAGACTCCCAAGCCACTGCCTCTGAGGCATAGACACCCCCTGGGGGAGGAACACACACAGAAGCACAGGTAACTTTCTTCTCCCTCATCTCTCGCTTGTCTCTTCCTCTGAGCAGCACCTCTCTGGATCTCTCTTTGGGACCCTCCCAGGCTGCCCACAGCAAAGCCGACTGACCAGGCCCTGGTTTCCGTTCTGCCCTGGGGGATCTGCCCTGGCCTGACTCTCCGTTTTGAAGTCTGTCTGCCTCTTGGGCTTGCTGTCATTAGAACCCAAACTCTCTGCCGCTGACCGCCCCCACCTCCGCCCAAAATCTACATCCCATCTCTCTCTGGTCTCCATGACAATCTCTCGGTTTCTGACTCCCCGCCTCAGACCCTATCGGCTTCAGTCTCTCTTCCCTCAGGGCTGTCTCCCGGATGCTCAGATGCTGCTACGTTCCCTGGGGTTCTGCCTCGGGTCTGCCTGTGATTCCTGTGAGACCCTCTTTCTGTGTCTCTCTGAGCCCCACGCTCCTCCGGGTCCCTCTCTCTGCACAGCTGATGACACTGCCTCTGCCTCGCCAGCCCCTCTGAATATCTTGCAAATCTGTTTCTCCCCAAAACTCTTTCCCATGAAACCTATGTCTCTGTGTGATTATCTGTGCCTCCTTCTTCGCCTGAGCTCCTGCTGTTGGTTTTTTTCTCCCTCACCTCTTCGACGCCAACCACCCCAGGTTCTCTGAACCCCGGCAGCTACCTCCCCAGTCCTCCCCGGGTCTCCACCTGTGCCCCCGATCCCTGACGCCCAGGCTCACCTGCCCGGTTGATCTCAATCACCTCCTCCTGAGCCAACGGGCAAGGCTCGCCGGGGGCTGGCAGAGGAGGCAGCCCCATGATCCCCAGCCCACCCGCTCCCCCCCTGAGCAGCCCGGGGTGCGTGTGGGGCCCCGCTGGGTAGGCCCCGGCCACAGTCACCCCCATGGAGGGTGGGGTGATGGGTGGCGGCGGGCTGATGCCCCCGCTGCCGTGGTGCGGGTGGGGCGGGGGTGGCGGGGGTGGGTCAGGCTTGCAGTAGTTGGGCGAGCCCGGTTGCGGGGGCCGGGGGATGTGTTTGTTCTTCTTCTTGGGCAGCTTCTGCTTGGCCATGGCCAGCGAATAGTACATGCCAAAGTTGTTGACAATGACGGGCACAGGCATGGCGATGGTCAGCACCCCCGCCAGGGCACACAGCGCCCCGACCAGCATCCCCGACCACGTCTTGGGGTACATGTCTCCATAGCCCAGGGTCGTCATGGTGACCACAGCCCACCAGAAGCCAATGGGGATGTTCTTGAAGTAGGTGTGGTTGGAGCCCAGGATGTCATCGGGGTCGGCGCCAATGCGCTCAGCGTAGTAAATCATGGTGGCGAAGATGAGCACCCCCAGGGCCAGGAAGATGATGAGCAGCAGTAACTCGTTGGTGCTGGCGCGGAGCGTGTGTCCCAGCACGCGCAGCCCCACGAAGTGCCGGGTCAGCTTGAAGATGCGCAGGATGCGGACGAAGCGGACCACCCGCAGGAAGCCCAGCACGTCTTTGGCGGCCTTGGAGCTGAGGCCCGAGAGGCCCACCTCGAGATAGAAGGGCAGGATGGCCACACAGTCGATGATGTTGAGGCTGCTTTTAAGAAACTCCACCTTGTCTGGGCAGAAGGTGATGCGCATGAGGAACTCGAAGGTGAACCAGACCACGCACACCCCCTCCACGTAGGTCAGGAAGGGCTCCGTCTCCACCTCCACGTTGGTGATGTTCTCCGGAGGTGCCCCGGGGATCGGGGAGGCCTGGGTCACCGTCTTGTTGCTAATATGGATGAAGCCCTCATGGGTTTCCAGGCAGAAGGTGGTGATGGAGATGAGGATGAAGAAGAGGGAGGCGAAGGCCACATACTGCAGGGCAGGGAGGGAGAGAGAGGGGGAGAGGTGACCTAGGCATCAGGTTGGCCATAACATCCAGAAGACCCTTCCAGTGCCCCCTTCCCCAGCCTCCTGGGCCCAAACTCTGGGCAAAATCCAGGTGTCTCAGCCCTGTGGCTCCATCACTTCCAGAATCCCATTCTCCCCTCTAAAGCTAGCAAAAAGGGAGAGAAAGGAACAGAGGCAGTTGGAGAAGAGCTGGCCCCAGCAGACGCAGCAGATGGGCAGCTTCTTTCCTTGGAAACATTTCTGGCCCCTTGCTGTTTCCTAGACCACCTCCCCCCACCCTCCTGTTCCCTGTGTCCTATTTCAGGGCCCCCCAGCAGGGTCCACGGGTTCTGCTGTGGGACGGGAGCCGCCAGGCCTAAGATCACACATCCTGTGTGTCTCGGAGGCTTTAGGGCTCAGCTTGGAGCTGGGCAGACGGGAAGGGAGAAGGCGGGCAGGGAGGCAGAATCGTGAGGTGGTTAAGAGTCGGCGAGCCTGGGCATGAATCTGGCTTTTAACCTGTCAAAACTGGGCAAGGAGACTGAGCTTTCTGAACCAGAAGTTTGTAGTGGGATTGTTGTGAGGATTAAATTAGATGAGCGTACGAAGGACTTGGCTCCAAACACAGTGCTTGGAGCAGTGCCTGGAACACAGTAAGAAGACCTGAGCTGTTGTTAGGGTATGCAGGCAGCAGTTAGTTGGGGGGCAAGGTCAAGGCCTCACCCAGAGAGGACAGGGCAGTGGTGGTGCCACAGAGGGGAGGTGGGGGTCCGGGCCCTTAAGGGAGGAGGGGTTGAAGGGTTAAGCCTGCAAAAATGGAAGAGGAGATAAAAGAGGAGAGTCAGGCAGGGTTTAGGGCCCTGAAGAGGAAGGAGAGTCACTGGCCTGGACATTGTGGGAAAAGGCAGAGCCAGGGCCAAAGAGAAGTTAGGGCATTTGCCAAAGGGGCAGAGAATGAGGGGTGAAGGGTCCTGAGCCATTTCAAGATGGGGGATAACCAGAGTCCTGCCACACAGTGATGTGGGTTTTGATGAAGGCCTAGAAGAGGAGGGAGTGGGGTCAGGGTCTTGGAGAAGGAAAGCAATGGGCCAGGCCCCTAGAGATGTCATGGGCTTTATCAGATATGCAGAGGGGTGGGAGGGGAGAGGAGTGCATTGGAGAGGGAAGGAAGACAGGTGTTATAGTAAAGAGAGGGTTTTAATCCTGCGGGTAGTGGAGGAGGGAGGGCATGGGGAGTTTTGCTATTAATCAGGGGCACAGAGCACGGGGAGGCCACTGCTGGACCACAGAGAGGACCTTGGACTTTGGGGTGGGCCAAGGGCCAGCACTGTCCCTCTGTGCACCCCCCTTCCTCCACAGGGGTTGGGCTCTGGGCTTGACTTCACTGAGGTGCAGAGCTGGGAAGTAGTGGGTGGAGAGTTTCGGGGCCACAGAGAGGACCCTGGACGTTGGGGTGGGCTGGGGGCCGGCGCAGGTCCTCTCTGAACTCCCCCCCCACCCCCACCTTCGCTTCTCTGCAGTGGTTTAAGAGGCCAGAGGCCTTCGCAGAGCGCATGCCT
Task1_train_27480
This is a variant in KCNC3 (potassium voltage-gated channel subfamily C member 3), located on Chromosome 19. Is this mutation a likely cause of disease or not?
Pathogenic; Spinocerebellar ataxia type 13
TAGCTGGGCACAGTGGCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGTGGCTGTTCAGGGAAGAGTGCTGGGCTCTGGGAAGGGCACCAAGGGGAAGGGCTAGGTTAGGTGAGAGATGGGAGGTGGGACGTGGGGGTCCCCTAGGCTCTGACTCCAGCTATTTTTAACTGGTGTGAAACTGGGTCAGCGGCTGAGGGAGCAAGATGGGGGCCAAGTGGCCCAGCTCCCTTTCTTGACCTACTTAAGGCGGGGCAGTGCAGGGGGGGGCCACCAGCCTCTCCTTCCTCCTAGACTCCCAAGCCACTGCCTCTGAGGCATAGACACCCCCTGGGGGAGGAACACACACAGAAGCACAGGTAACTTTCTTCTCCCTCATCTCTCGCTTGTCTCTTCCTCTGAGCAGCACCTCTCTGGATCTCTCTTTGGGACCCTCCCAGGCTGCCCACAGCAAAGCCGACTGACCAGGCCCTGGTTTCCGTTCTGCCCTGGGGGATCTGCCCTGGCCTGACTCTCCGTTTTGAAGTCTGTCTGCCTCTTGGGCTTGCTGTCATTAGAACCCAAACTCTCTGCCGCTGACCGCCCCCACCTCCGCCCAAAATCTACATCCCATCTCTCTCTGGTCTCCATGACAATCTCTCGGTTTCTGACTCCCCGCCTCAGACCCTATCGGCTTCAGTCTCTCTTCCCTCAGGGCTGTCTCCCGGATGCTCAGATGCTGCTACGTTCCCTGGGGTTCTGCCTCGGGTCTGCCTGTGATTCCTGTGAGACCCTCTTTCTGTGTCTCTCTGAGCCCCACGCTCCTCCGGGTCCCTCTCTCTGCACAGCTGATGACACTGCCTCTGCCTCGCCAGCCCCTCTGAATATCTTGCAAATCTGTTTCTCCCCAAAACTCTTTCCCATGAAACCTATGTCTCTGTGTGATTATCTGTGCCTCCTTCTTCGCCTGAGCTCCTGCTGTTGGTTTTTTTCTCCCTCACCTCTTCGACGCCAACCACCCCAGGTTCTCTGAACCCCGGCAGCTACCTCCCCAGTCCTCCCCGGGTCTCCACCTGTGCCCCCGATCCCTGACGCCCAGGCTCACCTGCCCGGTTGATCTCAATCACCTCCTCCTGAGCCAACGGGCAAGGCTCGCCGGGGGCTGGCAGAGGAGGCAGCCCCATGATCCCCAGCCCACCCGCTCCCCCCCTGAGCAGCCCGGGGTGCGTGTGGGGCCCCGCTGGGTAGGCCCCGGCCACAGTCACCCCCATGGAGGGTGGGGTGATGGGTGGCGGCGGGCTGATGCCCCCGCTGCCGTGGTGCGGGTGGGGCGGGGGTGGCGGGGGTGGGTCAGGCTTGCAGTAGTTGGGCGAGCCCGGTTGCGGGGGCCGGGGGATGTGTTTGTTCTTCTTCTTGGGCAGCTTCTGCTTGGCCATGGCCAGCGAATAGTACATGCCAAAGTTGTTGACAATGACGGGCACAGGCATGGCGATGGTCAGCACCCCCGCCAGGGCACACAGCGCCCCGACCAGCATCCCCGACCACGTCTTGGGGTACATGTCTCCATAGCCCAGGGTCGTCATGGTGACCACAGCCCACCAGAAGCCAATGGGGATGTTCTTGAAGTAGGTGTGGTTGGAGCCCAGGATGTCATCGGGGTCGGCGCCAATGCGCTCAGCGTAGTAAATCATGGTGGCGAAGATGAGCACCCCCAGGGCCAGGAAGATGATGAGCAGCAGGAACTCGTTGGTGCTGGCGCGGAGCGTGTGTCCCAGCACGCGCAGCCCCACGAAGTGCCGGGTCAGCTTGAAGATGCGCAGGATGCGGACGAAGCGGACCACCCGCAGGAAGCCCAGCACGTCTTTGGCGGCCTTGGAGCTGAGGCCCGAGAGGCCCACCTCGAGATAGAAGGGCAGGATGGCCACACAGTCGATGATGTTGAGGCTGCTTTTAAGAAACTCCACCTTGTCTGGGCAGAAGGTGATGCGCATGAGGAACTCGAAGGTGAACCAGACCACGCACACCCCCTCCACGTAGGTCAGGAAGGGCTCCGTCTCCACCTCCACGTTGGTGATGTTCTCCGGAGGTGCCCCGGGGATCGGGGAGGCCTGGGTCACCGTCTTGTTGCTAATATGGATGAAGCCCTCATGGGTTTCCAGGCAGAAGGTGGTGATGGAGATGAGGATGAAGAAGAGGGAGGCGAAGGCCACATACTGCAGGGCAGGGAGGGAGAGAGAGGGGGAGAGGTGACCTAGGCATCAGGTTGGCCATAACATCCAGAAGACCCTTCCAGTGCCCCCTTCCCCAGCCTCCTGGGCCCAAACTCTGGGCAAAATCCAGGTGTCTCAGCCCTGTGGCTCCATCACTTCCAGAATCCCATTCTCCCCTCTAAAGCTAGCAAAAAGGGAGAGAAAGGAACAGAGGCAGTTGGAGAAGAGCTGGCCCCAGCAGACGCAGCAGATGGGCAGCTTCTTTCCTTGGAAACATTTCTGGCCCCTTGCTGTTTCCTAGACCACCTCCCCCCACCCTCCTGTTCCCTGTGTCCTATTTCAGGGCCCCCCAGCAGGGTCCACGGGTTCTGCTGTGGGACGGGAGCCGCCAGGCCTAAGATCACACATCCTGTGTGTCTCGGAGGCTTTAGGGCTCAGCTTGGAGCTGGGCAGACGGGAAGGGAGAAGGCGGGCAGGGAGGCAGAATCGTGAGGTGGTTAAGAGTCGGCGAGCCTGGGCATGAATCTGGCTTTTAACCTGTCAAAACTGGGCAAGGAGACTGAGCTTTCTGAACCAGAAGTTTGTAGTGGGATTGTTGTGAGGATTAAATTAGATGAGCGTACGAAGGACTTGGCTCCAAACACAGTGCTTGGAGCAGTGCCTGGAACACAGTAAGAAGACCTGAGCTGTTGTTAGGGTATGCAGGCAGCAGTTAGTTGGGGGGCAAGGTCAAGGCCTCACCCAGAGAGGACAGGGCAGTGGTGGTGCCACAGAGGGGAGGTGGGGGTCCGGGCCCTTAAGGGAGGAGGGGTTGAAGGGTTAAGCCTGCAAAAATGGAAGAGGAGATAAAAGAGGAGAGTCAGGCAGGGTTTAGGGCCCTGAAGAGGAAGGAGAGTCACTGGCCTGGACATTGTGGGAAAAGGCAGAGCCAGGGCCAAAGAGAAGTTAGGGCATTTGCCAAAGGGGCAGAGAATGAGGGGTGAAGGGTCCTGAGCCATTTCAAGATGGGGGATAACCAGAGTCCTGCCACACAGTGATGTGGGTTTTGATGAAGGCCTAGAAGAGGAGGGAGTGGGGTCAGGGTCTTGGAGAAGGAAAGCAATGGGCCAGGCCCCTAGAGATGTCATGGGCTTTATCAGATATGCAGAGGGGTGGGAGGGGAGAGGAGTGCATTGGAGAGGGAAGGAAGACAGGTGTTATAGTAAAGAGAGGGTTTTAATCCTGCGGGTAGTGGAGGAGGGAGGGCATGGGGAGTTTTGCTATTAATCAGGGGCACAGAGCACGGGGAGGCCACTGCTGGACCACAGAGAGGACCTTGGACTTTGGGGTGGGCCAAGGGCCAGCACTGTCCCTCTGTGCACCCCCCTTCCTCCACAGGGGTTGGGCTCTGGGCTTGACTTCACTGAGGTGCAGAGCTGGGAAGTAGTGGGTGGAGAGTTTCGGGGCCACAGAGAGGACCCTGGACGTTGGGGTGGGCTGGGGGCCGGCGCAGGTCCTCTCTGAACTCCCCCCCCACCCCCACCTTCGCTTCTCTGCAGTGGTTTAAGAGGCCAGAGGCCTTCGCAGAGCGCATGCCTAGTTCCCCGCCCCCTCCGAGCCGGGCGCGCGGCGCTAGCTGCGGCACCGCAGTGGGGGCGG
TAGCTGGGCACAGTGGCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGTGGCTGTTCAGGGAAGAGTGCTGGGCTCTGGGAAGGGCACCAAGGGGAAGGGCTAGGTTAGGTGAGAGATGGGAGGTGGGACGTGGGGGTCCCCTAGGCTCTGACTCCAGCTATTTTTAACTGGTGTGAAACTGGGTCAGCGGCTGAGGGAGCAAGATGGGGGCCAAGTGGCCCAGCTCCCTTTCTTGACCTACTTAAGGCGGGGCAGTGCAGGGGGGGGCCACCAGCCTCTCCTTCCTCCTAGACTCCCAAGCCACTGCCTCTGAGGCATAGACACCCCCTGGGGGAGGAACACACACAGAAGCACAGGTAACTTTCTTCTCCCTCATCTCTCGCTTGTCTCTTCCTCTGAGCAGCACCTCTCTGGATCTCTCTTTGGGACCCTCCCAGGCTGCCCACAGCAAAGCCGACTGACCAGGCCCTGGTTTCCGTTCTGCCCTGGGGGATCTGCCCTGGCCTGACTCTCCGTTTTGAAGTCTGTCTGCCTCTTGGGCTTGCTGTCATTAGAACCCAAACTCTCTGCCGCTGACCGCCCCCACCTCCGCCCAAAATCTACATCCCATCTCTCTCTGGTCTCCATGACAATCTCTCGGTTTCTGACTCCCCGCCTCAGACCCTATCGGCTTCAGTCTCTCTTCCCTCAGGGCTGTCTCCCGGATGCTCAGATGCTGCTACGTTCCCTGGGGTTCTGCCTCGGGTCTGCCTGTGATTCCTGTGAGACCCTCTTTCTGTGTCTCTCTGAGCCCCACGCTCCTCCGGGTCCCTCTCTCTGCACAGCTGATGACACTGCCTCTGCCTCGCCAGCCCCTCTGAATATCTTGCAAATCTGTTTCTCCCCAAAACTCTTTCCCATGAAACCTATGTCTCTGTGTGATTATCTGTGCCTCCTTCTTCGCCTGAGCTCCTGCTGTTGGTTTTTTTCTCCCTCACCTCTTCGACGCCAACCACCCCAGGTTCTCTGAACCCCGGCAGCTACCTCCCCAGTCCTCCCCGGGTCTCCACCTGTGCCCCCGATCCCTGACGCCCAGGCTCACCTGCCCGGTTGATCTCAATCACCTCCTCCTGAGCCAACGGGCAAGGCTCGCCGGGGGCTGGCAGAGGAGGCAGCCCCATGATCCCCAGCCCACCCGCTCCCCCCCTGAGCAGCCCGGGGTGCGTGTGGGGCCCCGCTGGGTAGGCCCCGGCCACAGTCACCCCCATGGAGGGTGGGGTGATGGGTGGCGGCGGGCTGATGCCCCCGCTGCCGTGGTGCGGGTGGGGCGGGGGTGGCGGGGGTGGGTCAGGCTTGCAGTAGTTGGGCGAGCCCGGTTGCGGGGGCCGGGGGATGTGTTTGTTCTTCTTCTTGGGCAGCTTCTGCTTGGCCATGGCCAGCGAATAGTACATGCCAAAGTTGTTGACAATGACGGGCACAGGCATGGCGATGGTCAGCACCCCCGCCAGGGCACACAGCGCCCCGACCAGCATCCCCGACCACGTCTTGGGGTACATGTCTCCATAGCCCAGGGTCGTCATGGTGACCACAGCCCACCAGAAGCCAATGGGGATGTTCTTGAAGTAGGTGTGGTTGGAGCCCAGGATGTCATCGGGGTCGGCGCCAATGCGCTCAGCGTAGTAAATCATGGTGGCGAAGATGAGCACCCCCAGGGCCAGGAAGATGATGAGCAGCAGGAACTCGTTGGTGCTGGCGCGGAGCGTGTGTCCCAGCACGCGCAGCCCCACGAAGTGCCGGATCAGCTTGAAGATGCGCAGGATGCGGACGAAGCGGACCACCCGCAGGAAGCCCAGCACGTCTTTGGCGGCCTTGGAGCTGAGGCCCGAGAGGCCCACCTCGAGATAGAAGGGCAGGATGGCCACACAGTCGATGATGTTGAGGCTGCTTTTAAGAAACTCCACCTTGTCTGGGCAGAAGGTGATGCGCATGAGGAACTCGAAGGTGAACCAGACCACGCACACCCCCTCCACGTAGGTCAGGAAGGGCTCCGTCTCCACCTCCACGTTGGTGATGTTCTCCGGAGGTGCCCCGGGGATCGGGGAGGCCTGGGTCACCGTCTTGTTGCTAATATGGATGAAGCCCTCATGGGTTTCCAGGCAGAAGGTGGTGATGGAGATGAGGATGAAGAAGAGGGAGGCGAAGGCCACATACTGCAGGGCAGGGAGGGAGAGAGAGGGGGAGAGGTGACCTAGGCATCAGGTTGGCCATAACATCCAGAAGACCCTTCCAGTGCCCCCTTCCCCAGCCTCCTGGGCCCAAACTCTGGGCAAAATCCAGGTGTCTCAGCCCTGTGGCTCCATCACTTCCAGAATCCCATTCTCCCCTCTAAAGCTAGCAAAAAGGGAGAGAAAGGAACAGAGGCAGTTGGAGAAGAGCTGGCCCCAGCAGACGCAGCAGATGGGCAGCTTCTTTCCTTGGAAACATTTCTGGCCCCTTGCTGTTTCCTAGACCACCTCCCCCCACCCTCCTGTTCCCTGTGTCCTATTTCAGGGCCCCCCAGCAGGGTCCACGGGTTCTGCTGTGGGACGGGAGCCGCCAGGCCTAAGATCACACATCCTGTGTGTCTCGGAGGCTTTAGGGCTCAGCTTGGAGCTGGGCAGACGGGAAGGGAGAAGGCGGGCAGGGAGGCAGAATCGTGAGGTGGTTAAGAGTCGGCGAGCCTGGGCATGAATCTGGCTTTTAACCTGTCAAAACTGGGCAAGGAGACTGAGCTTTCTGAACCAGAAGTTTGTAGTGGGATTGTTGTGAGGATTAAATTAGATGAGCGTACGAAGGACTTGGCTCCAAACACAGTGCTTGGAGCAGTGCCTGGAACACAGTAAGAAGACCTGAGCTGTTGTTAGGGTATGCAGGCAGCAGTTAGTTGGGGGGCAAGGTCAAGGCCTCACCCAGAGAGGACAGGGCAGTGGTGGTGCCACAGAGGGGAGGTGGGGGTCCGGGCCCTTAAGGGAGGAGGGGTTGAAGGGTTAAGCCTGCAAAAATGGAAGAGGAGATAAAAGAGGAGAGTCAGGCAGGGTTTAGGGCCCTGAAGAGGAAGGAGAGTCACTGGCCTGGACATTGTGGGAAAAGGCAGAGCCAGGGCCAAAGAGAAGTTAGGGCATTTGCCAAAGGGGCAGAGAATGAGGGGTGAAGGGTCCTGAGCCATTTCAAGATGGGGGATAACCAGAGTCCTGCCACACAGTGATGTGGGTTTTGATGAAGGCCTAGAAGAGGAGGGAGTGGGGTCAGGGTCTTGGAGAAGGAAAGCAATGGGCCAGGCCCCTAGAGATGTCATGGGCTTTATCAGATATGCAGAGGGGTGGGAGGGGAGAGGAGTGCATTGGAGAGGGAAGGAAGACAGGTGTTATAGTAAAGAGAGGGTTTTAATCCTGCGGGTAGTGGAGGAGGGAGGGCATGGGGAGTTTTGCTATTAATCAGGGGCACAGAGCACGGGGAGGCCACTGCTGGACCACAGAGAGGACCTTGGACTTTGGGGTGGGCCAAGGGCCAGCACTGTCCCTCTGTGCACCCCCCTTCCTCCACAGGGGTTGGGCTCTGGGCTTGACTTCACTGAGGTGCAGAGCTGGGAAGTAGTGGGTGGAGAGTTTCGGGGCCACAGAGAGGACCCTGGACGTTGGGGTGGGCTGGGGGCCGGCGCAGGTCCTCTCTGAACTCCCCCCCCACCCCCACCTTCGCTTCTCTGCAGTGGTTTAAGAGGCCAGAGGCCTTCGCAGAGCGCATGCCTAGTTCCCCGCCCCCTCCGAGCCGGGCGCGCGGCGCTAGCTGCGGCACCGCAGTGGGGGCGG
Task1_train_27481
Given a variant located on Chromosome 19 and affecting KCNC3 (potassium voltage-gated channel subfamily C member 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Spinocerebellar ataxia type 13
GCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGTGGCTGTTCAGGGAAGAGTGCTGGGCTCTGGGAAGGGCACCAAGGGGAAGGGCTAGGTTAGGTGAGAGATGGGAGGTGGGACGTGGGGGTCCCCTAGGCTCTGACTCCAGCTATTTTTAACTGGTGTGAAACTGGGTCAGCGGCTGAGGGAGCAAGATGGGGGCCAAGTGGCCCAGCTCCCTTTCTTGACCTACTTAAGGCGGGGCAGTGCAGGGGGGGGCCACCAGCCTCTCCTTCCTCCTAGACTCCCAAGCCACTGCCTCTGAGGCATAGACACCCCCTGGGGGAGGAACACACACAGAAGCACAGGTAACTTTCTTCTCCCTCATCTCTCGCTTGTCTCTTCCTCTGAGCAGCACCTCTCTGGATCTCTCTTTGGGACCCTCCCAGGCTGCCCACAGCAAAGCCGACTGACCAGGCCCTGGTTTCCGTTCTGCCCTGGGGGATCTGCCCTGGCCTGACTCTCCGTTTTGAAGTCTGTCTGCCTCTTGGGCTTGCTGTCATTAGAACCCAAACTCTCTGCCGCTGACCGCCCCCACCTCCGCCCAAAATCTACATCCCATCTCTCTCTGGTCTCCATGACAATCTCTCGGTTTCTGACTCCCCGCCTCAGACCCTATCGGCTTCAGTCTCTCTTCCCTCAGGGCTGTCTCCCGGATGCTCAGATGCTGCTACGTTCCCTGGGGTTCTGCCTCGGGTCTGCCTGTGATTCCTGTGAGACCCTCTTTCTGTGTCTCTCTGAGCCCCACGCTCCTCCGGGTCCCTCTCTCTGCACAGCTGATGACACTGCCTCTGCCTCGCCAGCCCCTCTGAATATCTTGCAAATCTGTTTCTCCCCAAAACTCTTTCCCATGAAACCTATGTCTCTGTGTGATTATCTGTGCCTCCTTCTTCGCCTGAGCTCCTGCTGTTGGTTTTTTTCTCCCTCACCTCTTCGACGCCAACCACCCCAGGTTCTCTGAACCCCGGCAGCTACCTCCCCAGTCCTCCCCGGGTCTCCACCTGTGCCCCCGATCCCTGACGCCCAGGCTCACCTGCCCGGTTGATCTCAATCACCTCCTCCTGAGCCAACGGGCAAGGCTCGCCGGGGGCTGGCAGAGGAGGCAGCCCCATGATCCCCAGCCCACCCGCTCCCCCCCTGAGCAGCCCGGGGTGCGTGTGGGGCCCCGCTGGGTAGGCCCCGGCCACAGTCACCCCCATGGAGGGTGGGGTGATGGGTGGCGGCGGGCTGATGCCCCCGCTGCCGTGGTGCGGGTGGGGCGGGGGTGGCGGGGGTGGGTCAGGCTTGCAGTAGTTGGGCGAGCCCGGTTGCGGGGGCCGGGGGATGTGTTTGTTCTTCTTCTTGGGCAGCTTCTGCTTGGCCATGGCCAGCGAATAGTACATGCCAAAGTTGTTGACAATGACGGGCACAGGCATGGCGATGGTCAGCACCCCCGCCAGGGCACACAGCGCCCCGACCAGCATCCCCGACCACGTCTTGGGGTACATGTCTCCATAGCCCAGGGTCGTCATGGTGACCACAGCCCACCAGAAGCCAATGGGGATGTTCTTGAAGTAGGTGTGGTTGGAGCCCAGGATGTCATCGGGGTCGGCGCCAATGCGCTCAGCGTAGTAAATCATGGTGGCGAAGATGAGCACCCCCAGGGCCAGGAAGATGATGAGCAGCAGGAACTCGTTGGTGCTGGCGCGGAGCGTGTGTCCCAGCACGCGCAGCCCCACGAAGTGCCGGGTCAGCTTGAAGATGCGCAGGATGCGGACGAAGCGGACCACCCGCAGGAAGCCCAGCACGTCTTTGGCGGCCTTGGAGCTGAGGCCCGAGAGGCCCACCTCGAGATAGAAGGGCAGGATGGCCACACAGTCGATGATGTTGAGGCTGCTTTTAAGAAACTCCACCTTGTCTGGGCAGAAGGTGATGCGCATGAGGAACTCGAAGGTGAACCAGACCACGCACACCCCCTCCACGTAGGTCAGGAAGGGCTCCGTCTCCACCTCCACGTTGGTGATGTTCTCCGGAGGTGCCCCGGGGATCGGGGAGGCCTGGGTCACCGTCTTGTTGCTAATATGGATGAAGCCCTCATGGGTTTCCAGGCAGAAGGTGGTGATGGAGATGAGGATGAAGAAGAGGGAGGCGAAGGCCACATACTGCAGGGCAGGGAGGGAGAGAGAGGGGGAGAGGTGACCTAGGCATCAGGTTGGCCATAACATCCAGAAGACCCTTCCAGTGCCCCCTTCCCCAGCCTCCTGGGCCCAAACTCTGGGCAAAATCCAGGTGTCTCAGCCCTGTGGCTCCATCACTTCCAGAATCCCATTCTCCCCTCTAAAGCTAGCAAAAAGGGAGAGAAAGGAACAGAGGCAGTTGGAGAAGAGCTGGCCCCAGCAGACGCAGCAGATGGGCAGCTTCTTTCCTTGGAAACATTTCTGGCCCCTTGCTGTTTCCTAGACCACCTCCCCCCACCCTCCTGTTCCCTGTGTCCTATTTCAGGGCCCCCCAGCAGGGTCCACGGGTTCTGCTGTGGGACGGGAGCCGCCAGGCCTAAGATCACACATCCTGTGTGTCTCGGAGGCTTTAGGGCTCAGCTTGGAGCTGGGCAGACGGGAAGGGAGAAGGCGGGCAGGGAGGCAGAATCGTGAGGTGGTTAAGAGTCGGCGAGCCTGGGCATGAATCTGGCTTTTAACCTGTCAAAACTGGGCAAGGAGACTGAGCTTTCTGAACCAGAAGTTTGTAGTGGGATTGTTGTGAGGATTAAATTAGATGAGCGTACGAAGGACTTGGCTCCAAACACAGTGCTTGGAGCAGTGCCTGGAACACAGTAAGAAGACCTGAGCTGTTGTTAGGGTATGCAGGCAGCAGTTAGTTGGGGGGCAAGGTCAAGGCCTCACCCAGAGAGGACAGGGCAGTGGTGGTGCCACAGAGGGGAGGTGGGGGTCCGGGCCCTTAAGGGAGGAGGGGTTGAAGGGTTAAGCCTGCAAAAATGGAAGAGGAGATAAAAGAGGAGAGTCAGGCAGGGTTTAGGGCCCTGAAGAGGAAGGAGAGTCACTGGCCTGGACATTGTGGGAAAAGGCAGAGCCAGGGCCAAAGAGAAGTTAGGGCATTTGCCAAAGGGGCAGAGAATGAGGGGTGAAGGGTCCTGAGCCATTTCAAGATGGGGGATAACCAGAGTCCTGCCACACAGTGATGTGGGTTTTGATGAAGGCCTAGAAGAGGAGGGAGTGGGGTCAGGGTCTTGGAGAAGGAAAGCAATGGGCCAGGCCCCTAGAGATGTCATGGGCTTTATCAGATATGCAGAGGGGTGGGAGGGGAGAGGAGTGCATTGGAGAGGGAAGGAAGACAGGTGTTATAGTAAAGAGAGGGTTTTAATCCTGCGGGTAGTGGAGGAGGGAGGGCATGGGGAGTTTTGCTATTAATCAGGGGCACAGAGCACGGGGAGGCCACTGCTGGACCACAGAGAGGACCTTGGACTTTGGGGTGGGCCAAGGGCCAGCACTGTCCCTCTGTGCACCCCCCTTCCTCCACAGGGGTTGGGCTCTGGGCTTGACTTCACTGAGGTGCAGAGCTGGGAAGTAGTGGGTGGAGAGTTTCGGGGCCACAGAGAGGACCCTGGACGTTGGGGTGGGCTGGGGGCCGGCGCAGGTCCTCTCTGAACTCCCCCCCCACCCCCACCTTCGCTTCTCTGCAGTGGTTTAAGAGGCCAGAGGCCTTCGCAGAGCGCATGCCTAGTTCCCCGCCCCCTCCGAGCCGGGCGCGCGGCGCTAGCTGCGGCACCGCAGTGGGGGCGGGCCAGCCGGGCCGGG
GCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGTGGCTGTTCAGGGAAGAGTGCTGGGCTCTGGGAAGGGCACCAAGGGGAAGGGCTAGGTTAGGTGAGAGATGGGAGGTGGGACGTGGGGGTCCCCTAGGCTCTGACTCCAGCTATTTTTAACTGGTGTGAAACTGGGTCAGCGGCTGAGGGAGCAAGATGGGGGCCAAGTGGCCCAGCTCCCTTTCTTGACCTACTTAAGGCGGGGCAGTGCAGGGGGGGGCCACCAGCCTCTCCTTCCTCCTAGACTCCCAAGCCACTGCCTCTGAGGCATAGACACCCCCTGGGGGAGGAACACACACAGAAGCACAGGTAACTTTCTTCTCCCTCATCTCTCGCTTGTCTCTTCCTCTGAGCAGCACCTCTCTGGATCTCTCTTTGGGACCCTCCCAGGCTGCCCACAGCAAAGCCGACTGACCAGGCCCTGGTTTCCGTTCTGCCCTGGGGGATCTGCCCTGGCCTGACTCTCCGTTTTGAAGTCTGTCTGCCTCTTGGGCTTGCTGTCATTAGAACCCAAACTCTCTGCCGCTGACCGCCCCCACCTCCGCCCAAAATCTACATCCCATCTCTCTCTGGTCTCCATGACAATCTCTCGGTTTCTGACTCCCCGCCTCAGACCCTATCGGCTTCAGTCTCTCTTCCCTCAGGGCTGTCTCCCGGATGCTCAGATGCTGCTACGTTCCCTGGGGTTCTGCCTCGGGTCTGCCTGTGATTCCTGTGAGACCCTCTTTCTGTGTCTCTCTGAGCCCCACGCTCCTCCGGGTCCCTCTCTCTGCACAGCTGATGACACTGCCTCTGCCTCGCCAGCCCCTCTGAATATCTTGCAAATCTGTTTCTCCCCAAAACTCTTTCCCATGAAACCTATGTCTCTGTGTGATTATCTGTGCCTCCTTCTTCGCCTGAGCTCCTGCTGTTGGTTTTTTTCTCCCTCACCTCTTCGACGCCAACCACCCCAGGTTCTCTGAACCCCGGCAGCTACCTCCCCAGTCCTCCCCGGGTCTCCACCTGTGCCCCCGATCCCTGACGCCCAGGCTCACCTGCCCGGTTGATCTCAATCACCTCCTCCTGAGCCAACGGGCAAGGCTCGCCGGGGGCTGGCAGAGGAGGCAGCCCCATGATCCCCAGCCCACCCGCTCCCCCCCTGAGCAGCCCGGGGTGCGTGTGGGGCCCCGCTGGGTAGGCCCCGGCCACAGTCACCCCCATGGAGGGTGGGGTGATGGGTGGCGGCGGGCTGATGCCCCCGCTGCCGTGGTGCGGGTGGGGCGGGGGTGGCGGGGGTGGGTCAGGCTTGCAGTAGTTGGGCGAGCCCGGTTGCGGGGGCCGGGGGATGTGTTTGTTCTTCTTCTTGGGCAGCTTCTGCTTGGCCATGGCCAGCGAATAGTACATGCCAAAGTTGTTGACAATGACGGGCACAGGCATGGCGATGGTCAGCACCCCCGCCAGGGCACACAGCGCCCCGACCAGCATCCCCGACCACGTCTTGGGGTACATGTCTCCATAGCCCAGGGTCGTCATGGTGACCACAGCCCACCAGAAGCCAATGGGGATGTTCTTGAAGTAGGTGTGGTTGGAGCCCAGGATGTCATCGGGGTCGGCGCCAATGCGCTCAGCGTAGTAAATCATGGTGGCGAAGATGAGCACCCCCAGGGCCAGGAAGATGATGAGCAGCAGGAACTCGTTGGTGCTGGCGCGGAGCGTGTGTCCCAGCACGCGCAGCCCCACGAAGTGCCGGGTCAGCTTGAAGATGTGCAGGATGCGGACGAAGCGGACCACCCGCAGGAAGCCCAGCACGTCTTTGGCGGCCTTGGAGCTGAGGCCCGAGAGGCCCACCTCGAGATAGAAGGGCAGGATGGCCACACAGTCGATGATGTTGAGGCTGCTTTTAAGAAACTCCACCTTGTCTGGGCAGAAGGTGATGCGCATGAGGAACTCGAAGGTGAACCAGACCACGCACACCCCCTCCACGTAGGTCAGGAAGGGCTCCGTCTCCACCTCCACGTTGGTGATGTTCTCCGGAGGTGCCCCGGGGATCGGGGAGGCCTGGGTCACCGTCTTGTTGCTAATATGGATGAAGCCCTCATGGGTTTCCAGGCAGAAGGTGGTGATGGAGATGAGGATGAAGAAGAGGGAGGCGAAGGCCACATACTGCAGGGCAGGGAGGGAGAGAGAGGGGGAGAGGTGACCTAGGCATCAGGTTGGCCATAACATCCAGAAGACCCTTCCAGTGCCCCCTTCCCCAGCCTCCTGGGCCCAAACTCTGGGCAAAATCCAGGTGTCTCAGCCCTGTGGCTCCATCACTTCCAGAATCCCATTCTCCCCTCTAAAGCTAGCAAAAAGGGAGAGAAAGGAACAGAGGCAGTTGGAGAAGAGCTGGCCCCAGCAGACGCAGCAGATGGGCAGCTTCTTTCCTTGGAAACATTTCTGGCCCCTTGCTGTTTCCTAGACCACCTCCCCCCACCCTCCTGTTCCCTGTGTCCTATTTCAGGGCCCCCCAGCAGGGTCCACGGGTTCTGCTGTGGGACGGGAGCCGCCAGGCCTAAGATCACACATCCTGTGTGTCTCGGAGGCTTTAGGGCTCAGCTTGGAGCTGGGCAGACGGGAAGGGAGAAGGCGGGCAGGGAGGCAGAATCGTGAGGTGGTTAAGAGTCGGCGAGCCTGGGCATGAATCTGGCTTTTAACCTGTCAAAACTGGGCAAGGAGACTGAGCTTTCTGAACCAGAAGTTTGTAGTGGGATTGTTGTGAGGATTAAATTAGATGAGCGTACGAAGGACTTGGCTCCAAACACAGTGCTTGGAGCAGTGCCTGGAACACAGTAAGAAGACCTGAGCTGTTGTTAGGGTATGCAGGCAGCAGTTAGTTGGGGGGCAAGGTCAAGGCCTCACCCAGAGAGGACAGGGCAGTGGTGGTGCCACAGAGGGGAGGTGGGGGTCCGGGCCCTTAAGGGAGGAGGGGTTGAAGGGTTAAGCCTGCAAAAATGGAAGAGGAGATAAAAGAGGAGAGTCAGGCAGGGTTTAGGGCCCTGAAGAGGAAGGAGAGTCACTGGCCTGGACATTGTGGGAAAAGGCAGAGCCAGGGCCAAAGAGAAGTTAGGGCATTTGCCAAAGGGGCAGAGAATGAGGGGTGAAGGGTCCTGAGCCATTTCAAGATGGGGGATAACCAGAGTCCTGCCACACAGTGATGTGGGTTTTGATGAAGGCCTAGAAGAGGAGGGAGTGGGGTCAGGGTCTTGGAGAAGGAAAGCAATGGGCCAGGCCCCTAGAGATGTCATGGGCTTTATCAGATATGCAGAGGGGTGGGAGGGGAGAGGAGTGCATTGGAGAGGGAAGGAAGACAGGTGTTATAGTAAAGAGAGGGTTTTAATCCTGCGGGTAGTGGAGGAGGGAGGGCATGGGGAGTTTTGCTATTAATCAGGGGCACAGAGCACGGGGAGGCCACTGCTGGACCACAGAGAGGACCTTGGACTTTGGGGTGGGCCAAGGGCCAGCACTGTCCCTCTGTGCACCCCCCTTCCTCCACAGGGGTTGGGCTCTGGGCTTGACTTCACTGAGGTGCAGAGCTGGGAAGTAGTGGGTGGAGAGTTTCGGGGCCACAGAGAGGACCCTGGACGTTGGGGTGGGCTGGGGGCCGGCGCAGGTCCTCTCTGAACTCCCCCCCCACCCCCACCTTCGCTTCTCTGCAGTGGTTTAAGAGGCCAGAGGCCTTCGCAGAGCGCATGCCTAGTTCCCCGCCCCCTCCGAGCCGGGCGCGCGGCGCTAGCTGCGGCACCGCAGTGGGGGCGGGCCAGCCGGGCCGGG
Task1_train_27482
Here is a mutation in KCNC3 (potassium voltage-gated channel subfamily C member 3) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Inborn genetic diseases
GCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGTGGCTGTTCAGGGAAGAGTGCTGGGCTCTGGGAAGGGCACCAAGGGGAAGGGCTAGGTTAGGTGAGAGATGGGAGGTGGGACGTGGGGGTCCCCTAGGCTCTGACTCCAGCTATTTTTAACTGGTGTGAAACTGGGTCAGCGGCTGAGGGAGCAAGATGGGGGCCAAGTGGCCCAGCTCCCTTTCTTGACCTACTTAAGGCGGGGCAGTGCAGGGGGGGGCCACCAGCCTCTCCTTCCTCCTAGACTCCCAAGCCACTGCCTCTGAGGCATAGACACCCCCTGGGGGAGGAACACACACAGAAGCACAGGTAACTTTCTTCTCCCTCATCTCTCGCTTGTCTCTTCCTCTGAGCAGCACCTCTCTGGATCTCTCTTTGGGACCCTCCCAGGCTGCCCACAGCAAAGCCGACTGACCAGGCCCTGGTTTCCGTTCTGCCCTGGGGGATCTGCCCTGGCCTGACTCTCCGTTTTGAAGTCTGTCTGCCTCTTGGGCTTGCTGTCATTAGAACCCAAACTCTCTGCCGCTGACCGCCCCCACCTCCGCCCAAAATCTACATCCCATCTCTCTCTGGTCTCCATGACAATCTCTCGGTTTCTGACTCCCCGCCTCAGACCCTATCGGCTTCAGTCTCTCTTCCCTCAGGGCTGTCTCCCGGATGCTCAGATGCTGCTACGTTCCCTGGGGTTCTGCCTCGGGTCTGCCTGTGATTCCTGTGAGACCCTCTTTCTGTGTCTCTCTGAGCCCCACGCTCCTCCGGGTCCCTCTCTCTGCACAGCTGATGACACTGCCTCTGCCTCGCCAGCCCCTCTGAATATCTTGCAAATCTGTTTCTCCCCAAAACTCTTTCCCATGAAACCTATGTCTCTGTGTGATTATCTGTGCCTCCTTCTTCGCCTGAGCTCCTGCTGTTGGTTTTTTTCTCCCTCACCTCTTCGACGCCAACCACCCCAGGTTCTCTGAACCCCGGCAGCTACCTCCCCAGTCCTCCCCGGGTCTCCACCTGTGCCCCCGATCCCTGACGCCCAGGCTCACCTGCCCGGTTGATCTCAATCACCTCCTCCTGAGCCAACGGGCAAGGCTCGCCGGGGGCTGGCAGAGGAGGCAGCCCCATGATCCCCAGCCCACCCGCTCCCCCCCTGAGCAGCCCGGGGTGCGTGTGGGGCCCCGCTGGGTAGGCCCCGGCCACAGTCACCCCCATGGAGGGTGGGGTGATGGGTGGCGGCGGGCTGATGCCCCCGCTGCCGTGGTGCGGGTGGGGCGGGGGTGGCGGGGGTGGGTCAGGCTTGCAGTAGTTGGGCGAGCCCGGTTGCGGGGGCCGGGGGATGTGTTTGTTCTTCTTCTTGGGCAGCTTCTGCTTGGCCATGGCCAGCGAATAGTACATGCCAAAGTTGTTGACAATGACGGGCACAGGCATGGCGATGGTCAGCACCCCCGCCAGGGCACACAGCGCCCCGACCAGCATCCCCGACCACGTCTTGGGGTACATGTCTCCATAGCCCAGGGTCGTCATGGTGACCACAGCCCACCAGAAGCCAATGGGGATGTTCTTGAAGTAGGTGTGGTTGGAGCCCAGGATGTCATCGGGGTCGGCGCCAATGCGCTCAGCGTAGTAAATCATGGTGGCGAAGATGAGCACCCCCAGGGCCAGGAAGATGATGAGCAGCAGGAACTCGTTGGTGCTGGCGCGGAGCGTGTGTCCCAGCACGCGCAGCCCCACGAAGTGCCGGGTCAGCTTGAAGATGCGCAGGATGCGGACGAAGCGGACCACCCGCAGGAAGCCCAGCACGTCTTTGGCGGCCTTGGAGCTGAGGCCCGAGAGGCCCACCTCGAGATAGAAGGGCAGGATGGCCACACAGTCGATGATGTTGAGGCTGCTTTTAAGAAACTCCACCTTGTCTGGGCAGAAGGTGATGCGCATGAGGAACTCGAAGGTGAACCAGACCACGCACACCCCCTCCACGTAGGTCAGGAAGGGCTCCGTCTCCACCTCCACGTTGGTGATGTTCTCCGGAGGTGCCCCGGGGATCGGGGAGGCCTGGGTCACCGTCTTGTTGCTAATATGGATGAAGCCCTCATGGGTTTCCAGGCAGAAGGTGGTGATGGAGATGAGGATGAAGAAGAGGGAGGCGAAGGCCACATACTGCAGGGCAGGGAGGGAGAGAGAGGGGGAGAGGTGACCTAGGCATCAGGTTGGCCATAACATCCAGAAGACCCTTCCAGTGCCCCCTTCCCCAGCCTCCTGGGCCCAAACTCTGGGCAAAATCCAGGTGTCTCAGCCCTGTGGCTCCATCACTTCCAGAATCCCATTCTCCCCTCTAAAGCTAGCAAAAAGGGAGAGAAAGGAACAGAGGCAGTTGGAGAAGAGCTGGCCCCAGCAGACGCAGCAGATGGGCAGCTTCTTTCCTTGGAAACATTTCTGGCCCCTTGCTGTTTCCTAGACCACCTCCCCCCACCCTCCTGTTCCCTGTGTCCTATTTCAGGGCCCCCCAGCAGGGTCCACGGGTTCTGCTGTGGGACGGGAGCCGCCAGGCCTAAGATCACACATCCTGTGTGTCTCGGAGGCTTTAGGGCTCAGCTTGGAGCTGGGCAGACGGGAAGGGAGAAGGCGGGCAGGGAGGCAGAATCGTGAGGTGGTTAAGAGTCGGCGAGCCTGGGCATGAATCTGGCTTTTAACCTGTCAAAACTGGGCAAGGAGACTGAGCTTTCTGAACCAGAAGTTTGTAGTGGGATTGTTGTGAGGATTAAATTAGATGAGCGTACGAAGGACTTGGCTCCAAACACAGTGCTTGGAGCAGTGCCTGGAACACAGTAAGAAGACCTGAGCTGTTGTTAGGGTATGCAGGCAGCAGTTAGTTGGGGGGCAAGGTCAAGGCCTCACCCAGAGAGGACAGGGCAGTGGTGGTGCCACAGAGGGGAGGTGGGGGTCCGGGCCCTTAAGGGAGGAGGGGTTGAAGGGTTAAGCCTGCAAAAATGGAAGAGGAGATAAAAGAGGAGAGTCAGGCAGGGTTTAGGGCCCTGAAGAGGAAGGAGAGTCACTGGCCTGGACATTGTGGGAAAAGGCAGAGCCAGGGCCAAAGAGAAGTTAGGGCATTTGCCAAAGGGGCAGAGAATGAGGGGTGAAGGGTCCTGAGCCATTTCAAGATGGGGGATAACCAGAGTCCTGCCACACAGTGATGTGGGTTTTGATGAAGGCCTAGAAGAGGAGGGAGTGGGGTCAGGGTCTTGGAGAAGGAAAGCAATGGGCCAGGCCCCTAGAGATGTCATGGGCTTTATCAGATATGCAGAGGGGTGGGAGGGGAGAGGAGTGCATTGGAGAGGGAAGGAAGACAGGTGTTATAGTAAAGAGAGGGTTTTAATCCTGCGGGTAGTGGAGGAGGGAGGGCATGGGGAGTTTTGCTATTAATCAGGGGCACAGAGCACGGGGAGGCCACTGCTGGACCACAGAGAGGACCTTGGACTTTGGGGTGGGCCAAGGGCCAGCACTGTCCCTCTGTGCACCCCCCTTCCTCCACAGGGGTTGGGCTCTGGGCTTGACTTCACTGAGGTGCAGAGCTGGGAAGTAGTGGGTGGAGAGTTTCGGGGCCACAGAGAGGACCCTGGACGTTGGGGTGGGCTGGGGGCCGGCGCAGGTCCTCTCTGAACTCCCCCCCCACCCCCACCTTCGCTTCTCTGCAGTGGTTTAAGAGGCCAGAGGCCTTCGCAGAGCGCATGCCTAGTTCCCCGCCCCCTCCGAGCCGGGCGCGCGGCGCTAGCTGCGGCACCGCAGTGGGGGCGGGCCAGCCGGGCCGGG
GCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGTGGCTGTTCAGGGAAGAGTGCTGGGCTCTGGGAAGGGCACCAAGGGGAAGGGCTAGGTTAGGTGAGAGATGGGAGGTGGGACGTGGGGGTCCCCTAGGCTCTGACTCCAGCTATTTTTAACTGGTGTGAAACTGGGTCAGCGGCTGAGGGAGCAAGATGGGGGCCAAGTGGCCCAGCTCCCTTTCTTGACCTACTTAAGGCGGGGCAGTGCAGGGGGGGGCCACCAGCCTCTCCTTCCTCCTAGACTCCCAAGCCACTGCCTCTGAGGCATAGACACCCCCTGGGGGAGGAACACACACAGAAGCACAGGTAACTTTCTTCTCCCTCATCTCTCGCTTGTCTCTTCCTCTGAGCAGCACCTCTCTGGATCTCTCTTTGGGACCCTCCCAGGCTGCCCACAGCAAAGCCGACTGACCAGGCCCTGGTTTCCGTTCTGCCCTGGGGGATCTGCCCTGGCCTGACTCTCCGTTTTGAAGTCTGTCTGCCTCTTGGGCTTGCTGTCATTAGAACCCAAACTCTCTGCCGCTGACCGCCCCCACCTCCGCCCAAAATCTACATCCCATCTCTCTCTGGTCTCCATGACAATCTCTCGGTTTCTGACTCCCCGCCTCAGACCCTATCGGCTTCAGTCTCTCTTCCCTCAGGGCTGTCTCCCGGATGCTCAGATGCTGCTACGTTCCCTGGGGTTCTGCCTCGGGTCTGCCTGTGATTCCTGTGAGACCCTCTTTCTGTGTCTCTCTGAGCCCCACGCTCCTCCGGGTCCCTCTCTCTGCACAGCTGATGACACTGCCTCTGCCTCGCCAGCCCCTCTGAATATCTTGCAAATCTGTTTCTCCCCAAAACTCTTTCCCATGAAACCTATGTCTCTGTGTGATTATCTGTGCCTCCTTCTTCGCCTGAGCTCCTGCTGTTGGTTTTTTTCTCCCTCACCTCTTCGACGCCAACCACCCCAGGTTCTCTGAACCCCGGCAGCTACCTCCCCAGTCCTCCCCGGGTCTCCACCTGTGCCCCCGATCCCTGACGCCCAGGCTCACCTGCCCGGTTGATCTCAATCACCTCCTCCTGAGCCAACGGGCAAGGCTCGCCGGGGGCTGGCAGAGGAGGCAGCCCCATGATCCCCAGCCCACCCGCTCCCCCCCTGAGCAGCCCGGGGTGCGTGTGGGGCCCCGCTGGGTAGGCCCCGGCCACAGTCACCCCCATGGAGGGTGGGGTGATGGGTGGCGGCGGGCTGATGCCCCCGCTGCCGTGGTGCGGGTGGGGCGGGGGTGGCGGGGGTGGGTCAGGCTTGCAGTAGTTGGGCGAGCCCGGTTGCGGGGGCCGGGGGATGTGTTTGTTCTTCTTCTTGGGCAGCTTCTGCTTGGCCATGGCCAGCGAATAGTACATGCCAAAGTTGTTGACAATGACGGGCACAGGCATGGCGATGGTCAGCACCCCCGCCAGGGCACACAGCGCCCCGACCAGCATCCCCGACCACGTCTTGGGGTACATGTCTCCATAGCCCAGGGTCGTCATGGTGACCACAGCCCACCAGAAGCCAATGGGGATGTTCTTGAAGTAGGTGTGGTTGGAGCCCAGGATGTCATCGGGGTCGGCGCCAATGCGCTCAGCGTAGTAAATCATGGTGGCGAAGATGAGCACCCCCAGGGCCAGGAAGATGATGAGCAGCAGGAACTCGTTGGTGCTGGCGCGGAGCGTGTGTCCCAGCACGCGCAGCCCCACGAAGTGCCGGGTCAGCTTGAAGATGTGCAGGATGCGGACGAAGCGGACCACCCGCAGGAAGCCCAGCACGTCTTTGGCGGCCTTGGAGCTGAGGCCCGAGAGGCCCACCTCGAGATAGAAGGGCAGGATGGCCACACAGTCGATGATGTTGAGGCTGCTTTTAAGAAACTCCACCTTGTCTGGGCAGAAGGTGATGCGCATGAGGAACTCGAAGGTGAACCAGACCACGCACACCCCCTCCACGTAGGTCAGGAAGGGCTCCGTCTCCACCTCCACGTTGGTGATGTTCTCCGGAGGTGCCCCGGGGATCGGGGAGGCCTGGGTCACCGTCTTGTTGCTAATATGGATGAAGCCCTCATGGGTTTCCAGGCAGAAGGTGGTGATGGAGATGAGGATGAAGAAGAGGGAGGCGAAGGCCACATACTGCAGGGCAGGGAGGGAGAGAGAGGGGGAGAGGTGACCTAGGCATCAGGTTGGCCATAACATCCAGAAGACCCTTCCAGTGCCCCCTTCCCCAGCCTCCTGGGCCCAAACTCTGGGCAAAATCCAGGTGTCTCAGCCCTGTGGCTCCATCACTTCCAGAATCCCATTCTCCCCTCTAAAGCTAGCAAAAAGGGAGAGAAAGGAACAGAGGCAGTTGGAGAAGAGCTGGCCCCAGCAGACGCAGCAGATGGGCAGCTTCTTTCCTTGGAAACATTTCTGGCCCCTTGCTGTTTCCTAGACCACCTCCCCCCACCCTCCTGTTCCCTGTGTCCTATTTCAGGGCCCCCCAGCAGGGTCCACGGGTTCTGCTGTGGGACGGGAGCCGCCAGGCCTAAGATCACACATCCTGTGTGTCTCGGAGGCTTTAGGGCTCAGCTTGGAGCTGGGCAGACGGGAAGGGAGAAGGCGGGCAGGGAGGCAGAATCGTGAGGTGGTTAAGAGTCGGCGAGCCTGGGCATGAATCTGGCTTTTAACCTGTCAAAACTGGGCAAGGAGACTGAGCTTTCTGAACCAGAAGTTTGTAGTGGGATTGTTGTGAGGATTAAATTAGATGAGCGTACGAAGGACTTGGCTCCAAACACAGTGCTTGGAGCAGTGCCTGGAACACAGTAAGAAGACCTGAGCTGTTGTTAGGGTATGCAGGCAGCAGTTAGTTGGGGGGCAAGGTCAAGGCCTCACCCAGAGAGGACAGGGCAGTGGTGGTGCCACAGAGGGGAGGTGGGGGTCCGGGCCCTTAAGGGAGGAGGGGTTGAAGGGTTAAGCCTGCAAAAATGGAAGAGGAGATAAAAGAGGAGAGTCAGGCAGGGTTTAGGGCCCTGAAGAGGAAGGAGAGTCACTGGCCTGGACATTGTGGGAAAAGGCAGAGCCAGGGCCAAAGAGAAGTTAGGGCATTTGCCAAAGGGGCAGAGAATGAGGGGTGAAGGGTCCTGAGCCATTTCAAGATGGGGGATAACCAGAGTCCTGCCACACAGTGATGTGGGTTTTGATGAAGGCCTAGAAGAGGAGGGAGTGGGGTCAGGGTCTTGGAGAAGGAAAGCAATGGGCCAGGCCCCTAGAGATGTCATGGGCTTTATCAGATATGCAGAGGGGTGGGAGGGGAGAGGAGTGCATTGGAGAGGGAAGGAAGACAGGTGTTATAGTAAAGAGAGGGTTTTAATCCTGCGGGTAGTGGAGGAGGGAGGGCATGGGGAGTTTTGCTATTAATCAGGGGCACAGAGCACGGGGAGGCCACTGCTGGACCACAGAGAGGACCTTGGACTTTGGGGTGGGCCAAGGGCCAGCACTGTCCCTCTGTGCACCCCCCTTCCTCCACAGGGGTTGGGCTCTGGGCTTGACTTCACTGAGGTGCAGAGCTGGGAAGTAGTGGGTGGAGAGTTTCGGGGCCACAGAGAGGACCCTGGACGTTGGGGTGGGCTGGGGGCCGGCGCAGGTCCTCTCTGAACTCCCCCCCCACCCCCACCTTCGCTTCTCTGCAGTGGTTTAAGAGGCCAGAGGCCTTCGCAGAGCGCATGCCTAGTTCCCCGCCCCCTCCGAGCCGGGCGCGCGGCGCTAGCTGCGGCACCGCAGTGGGGGCGGGCCAGCCGGGCCGGG
Task1_train_27483
This variant affects the gene KCNC3 (potassium voltage-gated channel subfamily C member 3) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Spinocerebellar ataxia type 13
TGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGTGGCTGTTCAGGGAAGAGTGCTGGGCTCTGGGAAGGGCACCAAGGGGAAGGGCTAGGTTAGGTGAGAGATGGGAGGTGGGACGTGGGGGTCCCCTAGGCTCTGACTCCAGCTATTTTTAACTGGTGTGAAACTGGGTCAGCGGCTGAGGGAGCAAGATGGGGGCCAAGTGGCCCAGCTCCCTTTCTTGACCTACTTAAGGCGGGGCAGTGCAGGGGGGGGCCACCAGCCTCTCCTTCCTCCTAGACTCCCAAGCCACTGCCTCTGAGGCATAGACACCCCCTGGGGGAGGAACACACACAGAAGCACAGGTAACTTTCTTCTCCCTCATCTCTCGCTTGTCTCTTCCTCTGAGCAGCACCTCTCTGGATCTCTCTTTGGGACCCTCCCAGGCTGCCCACAGCAAAGCCGACTGACCAGGCCCTGGTTTCCGTTCTGCCCTGGGGGATCTGCCCTGGCCTGACTCTCCGTTTTGAAGTCTGTCTGCCTCTTGGGCTTGCTGTCATTAGAACCCAAACTCTCTGCCGCTGACCGCCCCCACCTCCGCCCAAAATCTACATCCCATCTCTCTCTGGTCTCCATGACAATCTCTCGGTTTCTGACTCCCCGCCTCAGACCCTATCGGCTTCAGTCTCTCTTCCCTCAGGGCTGTCTCCCGGATGCTCAGATGCTGCTACGTTCCCTGGGGTTCTGCCTCGGGTCTGCCTGTGATTCCTGTGAGACCCTCTTTCTGTGTCTCTCTGAGCCCCACGCTCCTCCGGGTCCCTCTCTCTGCACAGCTGATGACACTGCCTCTGCCTCGCCAGCCCCTCTGAATATCTTGCAAATCTGTTTCTCCCCAAAACTCTTTCCCATGAAACCTATGTCTCTGTGTGATTATCTGTGCCTCCTTCTTCGCCTGAGCTCCTGCTGTTGGTTTTTTTCTCCCTCACCTCTTCGACGCCAACCACCCCAGGTTCTCTGAACCCCGGCAGCTACCTCCCCAGTCCTCCCCGGGTCTCCACCTGTGCCCCCGATCCCTGACGCCCAGGCTCACCTGCCCGGTTGATCTCAATCACCTCCTCCTGAGCCAACGGGCAAGGCTCGCCGGGGGCTGGCAGAGGAGGCAGCCCCATGATCCCCAGCCCACCCGCTCCCCCCCTGAGCAGCCCGGGGTGCGTGTGGGGCCCCGCTGGGTAGGCCCCGGCCACAGTCACCCCCATGGAGGGTGGGGTGATGGGTGGCGGCGGGCTGATGCCCCCGCTGCCGTGGTGCGGGTGGGGCGGGGGTGGCGGGGGTGGGTCAGGCTTGCAGTAGTTGGGCGAGCCCGGTTGCGGGGGCCGGGGGATGTGTTTGTTCTTCTTCTTGGGCAGCTTCTGCTTGGCCATGGCCAGCGAATAGTACATGCCAAAGTTGTTGACAATGACGGGCACAGGCATGGCGATGGTCAGCACCCCCGCCAGGGCACACAGCGCCCCGACCAGCATCCCCGACCACGTCTTGGGGTACATGTCTCCATAGCCCAGGGTCGTCATGGTGACCACAGCCCACCAGAAGCCAATGGGGATGTTCTTGAAGTAGGTGTGGTTGGAGCCCAGGATGTCATCGGGGTCGGCGCCAATGCGCTCAGCGTAGTAAATCATGGTGGCGAAGATGAGCACCCCCAGGGCCAGGAAGATGATGAGCAGCAGGAACTCGTTGGTGCTGGCGCGGAGCGTGTGTCCCAGCACGCGCAGCCCCACGAAGTGCCGGGTCAGCTTGAAGATGCGCAGGATGCGGACGAAGCGGACCACCCGCAGGAAGCCCAGCACGTCTTTGGCGGCCTTGGAGCTGAGGCCCGAGAGGCCCACCTCGAGATAGAAGGGCAGGATGGCCACACAGTCGATGATGTTGAGGCTGCTTTTAAGAAACTCCACCTTGTCTGGGCAGAAGGTGATGCGCATGAGGAACTCGAAGGTGAACCAGACCACGCACACCCCCTCCACGTAGGTCAGGAAGGGCTCCGTCTCCACCTCCACGTTGGTGATGTTCTCCGGAGGTGCCCCGGGGATCGGGGAGGCCTGGGTCACCGTCTTGTTGCTAATATGGATGAAGCCCTCATGGGTTTCCAGGCAGAAGGTGGTGATGGAGATGAGGATGAAGAAGAGGGAGGCGAAGGCCACATACTGCAGGGCAGGGAGGGAGAGAGAGGGGGAGAGGTGACCTAGGCATCAGGTTGGCCATAACATCCAGAAGACCCTTCCAGTGCCCCCTTCCCCAGCCTCCTGGGCCCAAACTCTGGGCAAAATCCAGGTGTCTCAGCCCTGTGGCTCCATCACTTCCAGAATCCCATTCTCCCCTCTAAAGCTAGCAAAAAGGGAGAGAAAGGAACAGAGGCAGTTGGAGAAGAGCTGGCCCCAGCAGACGCAGCAGATGGGCAGCTTCTTTCCTTGGAAACATTTCTGGCCCCTTGCTGTTTCCTAGACCACCTCCCCCCACCCTCCTGTTCCCTGTGTCCTATTTCAGGGCCCCCCAGCAGGGTCCACGGGTTCTGCTGTGGGACGGGAGCCGCCAGGCCTAAGATCACACATCCTGTGTGTCTCGGAGGCTTTAGGGCTCAGCTTGGAGCTGGGCAGACGGGAAGGGAGAAGGCGGGCAGGGAGGCAGAATCGTGAGGTGGTTAAGAGTCGGCGAGCCTGGGCATGAATCTGGCTTTTAACCTGTCAAAACTGGGCAAGGAGACTGAGCTTTCTGAACCAGAAGTTTGTAGTGGGATTGTTGTGAGGATTAAATTAGATGAGCGTACGAAGGACTTGGCTCCAAACACAGTGCTTGGAGCAGTGCCTGGAACACAGTAAGAAGACCTGAGCTGTTGTTAGGGTATGCAGGCAGCAGTTAGTTGGGGGGCAAGGTCAAGGCCTCACCCAGAGAGGACAGGGCAGTGGTGGTGCCACAGAGGGGAGGTGGGGGTCCGGGCCCTTAAGGGAGGAGGGGTTGAAGGGTTAAGCCTGCAAAAATGGAAGAGGAGATAAAAGAGGAGAGTCAGGCAGGGTTTAGGGCCCTGAAGAGGAAGGAGAGTCACTGGCCTGGACATTGTGGGAAAAGGCAGAGCCAGGGCCAAAGAGAAGTTAGGGCATTTGCCAAAGGGGCAGAGAATGAGGGGTGAAGGGTCCTGAGCCATTTCAAGATGGGGGATAACCAGAGTCCTGCCACACAGTGATGTGGGTTTTGATGAAGGCCTAGAAGAGGAGGGAGTGGGGTCAGGGTCTTGGAGAAGGAAAGCAATGGGCCAGGCCCCTAGAGATGTCATGGGCTTTATCAGATATGCAGAGGGGTGGGAGGGGAGAGGAGTGCATTGGAGAGGGAAGGAAGACAGGTGTTATAGTAAAGAGAGGGTTTTAATCCTGCGGGTAGTGGAGGAGGGAGGGCATGGGGAGTTTTGCTATTAATCAGGGGCACAGAGCACGGGGAGGCCACTGCTGGACCACAGAGAGGACCTTGGACTTTGGGGTGGGCCAAGGGCCAGCACTGTCCCTCTGTGCACCCCCCTTCCTCCACAGGGGTTGGGCTCTGGGCTTGACTTCACTGAGGTGCAGAGCTGGGAAGTAGTGGGTGGAGAGTTTCGGGGCCACAGAGAGGACCCTGGACGTTGGGGTGGGCTGGGGGCCGGCGCAGGTCCTCTCTGAACTCCCCCCCCACCCCCACCTTCGCTTCTCTGCAGTGGTTTAAGAGGCCAGAGGCCTTCGCAGAGCGCATGCCTAGTTCCCCGCCCCCTCCGAGCCGGGCGCGCGGCGCTAGCTGCGGCACCGCAGTGGGGGCGGGCCAGCCGGGCCGGGGGGCGGGGC
TGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGTGGCTGTTCAGGGAAGAGTGCTGGGCTCTGGGAAGGGCACCAAGGGGAAGGGCTAGGTTAGGTGAGAGATGGGAGGTGGGACGTGGGGGTCCCCTAGGCTCTGACTCCAGCTATTTTTAACTGGTGTGAAACTGGGTCAGCGGCTGAGGGAGCAAGATGGGGGCCAAGTGGCCCAGCTCCCTTTCTTGACCTACTTAAGGCGGGGCAGTGCAGGGGGGGGCCACCAGCCTCTCCTTCCTCCTAGACTCCCAAGCCACTGCCTCTGAGGCATAGACACCCCCTGGGGGAGGAACACACACAGAAGCACAGGTAACTTTCTTCTCCCTCATCTCTCGCTTGTCTCTTCCTCTGAGCAGCACCTCTCTGGATCTCTCTTTGGGACCCTCCCAGGCTGCCCACAGCAAAGCCGACTGACCAGGCCCTGGTTTCCGTTCTGCCCTGGGGGATCTGCCCTGGCCTGACTCTCCGTTTTGAAGTCTGTCTGCCTCTTGGGCTTGCTGTCATTAGAACCCAAACTCTCTGCCGCTGACCGCCCCCACCTCCGCCCAAAATCTACATCCCATCTCTCTCTGGTCTCCATGACAATCTCTCGGTTTCTGACTCCCCGCCTCAGACCCTATCGGCTTCAGTCTCTCTTCCCTCAGGGCTGTCTCCCGGATGCTCAGATGCTGCTACGTTCCCTGGGGTTCTGCCTCGGGTCTGCCTGTGATTCCTGTGAGACCCTCTTTCTGTGTCTCTCTGAGCCCCACGCTCCTCCGGGTCCCTCTCTCTGCACAGCTGATGACACTGCCTCTGCCTCGCCAGCCCCTCTGAATATCTTGCAAATCTGTTTCTCCCCAAAACTCTTTCCCATGAAACCTATGTCTCTGTGTGATTATCTGTGCCTCCTTCTTCGCCTGAGCTCCTGCTGTTGGTTTTTTTCTCCCTCACCTCTTCGACGCCAACCACCCCAGGTTCTCTGAACCCCGGCAGCTACCTCCCCAGTCCTCCCCGGGTCTCCACCTGTGCCCCCGATCCCTGACGCCCAGGCTCACCTGCCCGGTTGATCTCAATCACCTCCTCCTGAGCCAACGGGCAAGGCTCGCCGGGGGCTGGCAGAGGAGGCAGCCCCATGATCCCCAGCCCACCCGCTCCCCCCCTGAGCAGCCCGGGGTGCGTGTGGGGCCCCGCTGGGTAGGCCCCGGCCACAGTCACCCCCATGGAGGGTGGGGTGATGGGTGGCGGCGGGCTGATGCCCCCGCTGCCGTGGTGCGGGTGGGGCGGGGGTGGCGGGGGTGGGTCAGGCTTGCAGTAGTTGGGCGAGCCCGGTTGCGGGGGCCGGGGGATGTGTTTGTTCTTCTTCTTGGGCAGCTTCTGCTTGGCCATGGCCAGCGAATAGTACATGCCAAAGTTGTTGACAATGACGGGCACAGGCATGGCGATGGTCAGCACCCCCGCCAGGGCACACAGCGCCCCGACCAGCATCCCCGACCACGTCTTGGGGTACATGTCTCCATAGCCCAGGGTCGTCATGGTGACCACAGCCCACCAGAAGCCAATGGGGATGTTCTTGAAGTAGGTGTGGTTGGAGCCCAGGATGTCATCGGGGTCGGCGCCAATGCGCTCAGCGTAGTAAATCATGGTGGCGAAGATGAGCACCCCCAGGGCCAGGAAGATGATGAGCAGCAGGAACTCGTTGGTGCTGGCGCGGAGCGTGTGTCCCAGCACGCGCAGCCCCACGAAGTGCCGGGTCAGCTTGAAGATGCGCAGGATGTGGACGAAGCGGACCACCCGCAGGAAGCCCAGCACGTCTTTGGCGGCCTTGGAGCTGAGGCCCGAGAGGCCCACCTCGAGATAGAAGGGCAGGATGGCCACACAGTCGATGATGTTGAGGCTGCTTTTAAGAAACTCCACCTTGTCTGGGCAGAAGGTGATGCGCATGAGGAACTCGAAGGTGAACCAGACCACGCACACCCCCTCCACGTAGGTCAGGAAGGGCTCCGTCTCCACCTCCACGTTGGTGATGTTCTCCGGAGGTGCCCCGGGGATCGGGGAGGCCTGGGTCACCGTCTTGTTGCTAATATGGATGAAGCCCTCATGGGTTTCCAGGCAGAAGGTGGTGATGGAGATGAGGATGAAGAAGAGGGAGGCGAAGGCCACATACTGCAGGGCAGGGAGGGAGAGAGAGGGGGAGAGGTGACCTAGGCATCAGGTTGGCCATAACATCCAGAAGACCCTTCCAGTGCCCCCTTCCCCAGCCTCCTGGGCCCAAACTCTGGGCAAAATCCAGGTGTCTCAGCCCTGTGGCTCCATCACTTCCAGAATCCCATTCTCCCCTCTAAAGCTAGCAAAAAGGGAGAGAAAGGAACAGAGGCAGTTGGAGAAGAGCTGGCCCCAGCAGACGCAGCAGATGGGCAGCTTCTTTCCTTGGAAACATTTCTGGCCCCTTGCTGTTTCCTAGACCACCTCCCCCCACCCTCCTGTTCCCTGTGTCCTATTTCAGGGCCCCCCAGCAGGGTCCACGGGTTCTGCTGTGGGACGGGAGCCGCCAGGCCTAAGATCACACATCCTGTGTGTCTCGGAGGCTTTAGGGCTCAGCTTGGAGCTGGGCAGACGGGAAGGGAGAAGGCGGGCAGGGAGGCAGAATCGTGAGGTGGTTAAGAGTCGGCGAGCCTGGGCATGAATCTGGCTTTTAACCTGTCAAAACTGGGCAAGGAGACTGAGCTTTCTGAACCAGAAGTTTGTAGTGGGATTGTTGTGAGGATTAAATTAGATGAGCGTACGAAGGACTTGGCTCCAAACACAGTGCTTGGAGCAGTGCCTGGAACACAGTAAGAAGACCTGAGCTGTTGTTAGGGTATGCAGGCAGCAGTTAGTTGGGGGGCAAGGTCAAGGCCTCACCCAGAGAGGACAGGGCAGTGGTGGTGCCACAGAGGGGAGGTGGGGGTCCGGGCCCTTAAGGGAGGAGGGGTTGAAGGGTTAAGCCTGCAAAAATGGAAGAGGAGATAAAAGAGGAGAGTCAGGCAGGGTTTAGGGCCCTGAAGAGGAAGGAGAGTCACTGGCCTGGACATTGTGGGAAAAGGCAGAGCCAGGGCCAAAGAGAAGTTAGGGCATTTGCCAAAGGGGCAGAGAATGAGGGGTGAAGGGTCCTGAGCCATTTCAAGATGGGGGATAACCAGAGTCCTGCCACACAGTGATGTGGGTTTTGATGAAGGCCTAGAAGAGGAGGGAGTGGGGTCAGGGTCTTGGAGAAGGAAAGCAATGGGCCAGGCCCCTAGAGATGTCATGGGCTTTATCAGATATGCAGAGGGGTGGGAGGGGAGAGGAGTGCATTGGAGAGGGAAGGAAGACAGGTGTTATAGTAAAGAGAGGGTTTTAATCCTGCGGGTAGTGGAGGAGGGAGGGCATGGGGAGTTTTGCTATTAATCAGGGGCACAGAGCACGGGGAGGCCACTGCTGGACCACAGAGAGGACCTTGGACTTTGGGGTGGGCCAAGGGCCAGCACTGTCCCTCTGTGCACCCCCCTTCCTCCACAGGGGTTGGGCTCTGGGCTTGACTTCACTGAGGTGCAGAGCTGGGAAGTAGTGGGTGGAGAGTTTCGGGGCCACAGAGAGGACCCTGGACGTTGGGGTGGGCTGGGGGCCGGCGCAGGTCCTCTCTGAACTCCCCCCCCACCCCCACCTTCGCTTCTCTGCAGTGGTTTAAGAGGCCAGAGGCCTTCGCAGAGCGCATGCCTAGTTCCCCGCCCCCTCCGAGCCGGGCGCGCGGCGCTAGCTGCGGCACCGCAGTGGGGGCGGGCCAGCCGGGCCGGGGGGCGGGGC
Task1_train_27484
A variant was discovered in gene POLD1 (DNA polymerase delta 1, catalytic subunit), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Hereditary cancer-predisposing syndrome
CACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATC
CACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACAAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATC
Task1_train_27485
This variant affects the gene POLD1 (DNA polymerase delta 1, catalytic subunit) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Mandibular hypoplasia-deafness-progeroid syndrome
CACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATC
CACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACAAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATC
Task1_train_27486
A variant was discovered on Chromosome 19, affecting POLD1 (DNA polymerase delta 1, catalytic subunit). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Micrognathia
CACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACGAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATC
CACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCATCACCAAGGAGCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCCACGTGGAGCTGGCCGAGAGGTCCTGCGCGGGGCGGGTGGCCTGGCCAGAAATAACCCCCTCCTTCCTGCCAGCTGGGCCCACTTCCTACACCCTCGCCCCCACCCCCGCCACCCACCTGCCCTCACCCACCCGCCACCCCATCTCCACGCAGGATGAGGAAGCGGGACCCCGGGAGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCATCAGTGCCGCCAAGGGTGTGGCCGCCTACATGAAGTCGGAGGTCAGGCCCACCTGGCTGCCTGCTCCCGCCCAGCCCCCTCGCTCTCACTTCTGCTTTCCGAGATGGGCGGGCCTGCGGGAAGGGTGGGGCCTCCCGTGCCCTGTGGGGCCCTGAGAACCGCCCCCCATGGCAGCCTGGGTGTGGCCTCGGCCCCCTCTGGAGGTCCCCCCTCTATTCTGACCCCTCCCTTGCTTCCCTATGGAAGGGGCCCCAGTCCCTCCCCTGTGCATACAGCTCCCCAGCCGGGGGTTCCCTTGGATTCATAATCCTCCAGCTCTACCCCCACCCCCAGTGACCCACATCTTAGCCCCATGACCTCTGACCTCCTGACCCCTTCCTCATCCTTGCTTCCCCTTGTGAACTCTGACCCTTCCGTGGTGACCTGAGAGCCCTACAGACTCTGTGGCCCAGAGACTCCGTGACCTCCGACCCCATCCCAGACCCAGGCCCCCCCCATGTCACAGCCCGCAGGCAGGCCTAGGCCCTAAGCCCCAGGCCCCATGACCACCCCGTGTCCACCCCGGTGCCCTTTCCCTGGCTGCCCGGGTGTGACTGCCATGTGGCCGCAGGACCCGCTGTTCGTGCTGGAGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAGCAGCTGGCCAAGCCCCTCCTGCGCATCTTCGAGCCCATCCTGGGCGAGGGCCGTGCCGAGGCTGTGCTACTGCGTACGGGGGCACCAGGGGACTGGGGGCACCCTGGGGGGGCAGAGGAGATCACCGGCCCACCACCTGCCTCCTCTCCTGCAGGGGGGGACCACACGCGCTGCAAGACGGTGCTCACGGGCAAGGTGGGCGGCCTCCTGGCCTTCGCCAAACGCCGCAACTGCTGCATTGGCTGCCGCACAGTGCTCAGCCACCAGGGTGAGCGGCCCTGGCCACTGGGCCCCCACTGGCCCTCAACCTGCTCTGCCGTCACCCCAGATCCTAGACACCCACCCCATCGGCTGGCACTGCCACCCAGTGGGCCCAGGGCCCCTGGGTGGGTGGCCCCTGTCTCCACCCCCCACAGAGGGTCCTCGGCCCCCACCCCGGGAGTTCCCCAGGGGAGTTTTCCCAGCACACTTGCTCCGTTGTTCTCCAGCCTCTGGGGACTTTCAGAAGCTGGGATTGGCAGTGGGCAGGGATGGGGTGGCCCAGTTCCTGGCTGGGCCCCAGCACTTGGGCTGACCCGCCTCCCCACAGGAGCCGTGTGTGAGTTCTGCCAGCCCCGGGAGTCTGAGCTGTATCAGAAGGAGGTGAGAGGGCCGGGAGGTGAGGAGGGGCCAGGTGGGGAGGCGGGGGCGCCCTGCTCAGCCGCTGCCGTCCCCAGGTATCCCATCTGAATGCCCTGGAGGAGCGCTTCTCGCGCCTCTGGACGCAGTGCCAGCGCTGCCAGGGCAGCCTGCACAAGGACGTCATCTGCACCAGGTGTGTGCCATGTCCCGACCCTGGGCTGCCCCGCCCCTTCCCAGCTCCCAGGCCTGTGGGTTGTGGACCCAACCTCTGACTCCAAGGCCTCTCCTGAGCATCCTCCCCGCCCATCCCCTTCCAGCTGTGAGCTGTCCTGAGCCTCAGTGTCCTTGTCTGAAAAATGGGCCCATCCCAGCCCCCCAGAGGGGGTGGGTGCTTAGGGAGGCAGCGCCCGGCACCCAGTGTTGCCCGGGAAACGGCTGTCCTCCCGACACACCCAGCCAGCCTGGCCCCCTCCCCAGGGCGGGGCCGGGCTTTCCCCAGGGAACGGGTAGGCGGGGTGGGTTCCCACGCCAGGTGACAGGTGATATACGGCCAGCCATGGCCCTGCACCTCGCCAGGCACCCGCTGTTATCGGCTCCCCCCCCCCACCCCCCCCGTGCCTGCTGAGCAAACAGCCCGCTGCGGGAGGGGGCGGGTGGGCTGGGCAGCAGGCGGGGACCAAAGTCCTGGGAACAGCCCCCACCCCTCTCCCAGGCTGGGCACTGGGCCTTGGCTGGTCCTGACCCTGCCCCTGCCCCCACCCGCAGCCGGGACTGCCCCATCTTCTACATGCGCAAGAAGGTGCGGAAGGACCTGGAAGACCAGGAGCAGCTCCTGCGGCGCTTCGGACCCCCTGGACCTGAGGCCTGGTGACCTTGCAAGCATCCCATGGGGCGGGGGCGGGACCAGGGAGAATTAATAAAGTTCTGGACTTTTGCTATATGGTGCTTTGTGGTCTCTGGGGGACACTGTCTGGTTTCATAAGCCCTGGCCTTGGCTGGGACCCTCCTGAGGCCCGCACCGCCCCTCATCCTCAGCAAAAGCCCCCGGACTCCCACCTGTGCTGCCTGGTTCATGTGGGCCAAGCCTGCCTCAGTTTCCTCTCTGGCCCTGAAGGAACCCTTATACCAGCGCTTCTCTGCCCTGCTTAGGGCCCCCAGGTGTCTGGCCCCGGCCCAGCCCTCCCTGGTGATGACCCTGGGGACCCTGGTGGCTGCCCCGCCCTCCAGGTGCTGACCTGTTTCCTCCAGGCCCTGGGGCAGCCCCAGGCGCACCGGGGCTTCCACTCCTCAGCCCGGCCAAGGGGACCCCCCCATCCCCCGCCGGACCACACACCCACGATGTTTCCACGTCGGGGTCCTGGCAATGGGCTTTGGGTCTGGGTTTCCCCCCAGCGACTCCCATCTCTATCCCCGCAGCCTCTAACTGCCGTCAGATGCCCTCGGCCCTCCCGTCACCTCACACATCCCCCGGGGAGAGTCTTGTGCTTGCCCCTCGGCCCCCAGCCCGCCCCTGCTGGAATTCGGCTCCTGGGTCCAGATCCTCCGTTTCCTGATTCTCCTCTTCAGTGAACCCCAGCCCTTCCTCGATGTTTTCAGGGTTCCCCCAAATCCAGCTCCTGTCCCATCTCCAGCCCTCAAGGTCAGCCCCCCAAACCCAGCCCCACGGGGATCCCCAAATCCAGACAGCCCCTGGCCCGCCATCCCTGCCATGTGACAAAGGGGTTGTGCAATCCAGCCCCCTCCCCTGACCCCCTCCCTGAGGGGATTTTTGAGGAGGGCCGAGCTTGTGGCCAGCGGGCACCCTCCTCCCCCCGGCAGGGGCTGGGCCAAGATATAAATAGGGTTGGCGGCTGCAGCGGGCGGCAAACAGCCCGCCCGGCACCACCATGCTCGCCCTGGAGGCTGCACAGTAAGTGAGGGCCCCCAAACCTGCACCCGGGGTCCCCACCTGCACTGCCCCTCTGTGGGGCCTCACCCATGGGCAGTGGTTTCTCTGCTCCTCACGGCCGGTGGGTGGGAGTGGAGGGGAGGGGTCCACCCTGTCTCTTGCCCCTTCTGGTTCTGTTCCCTCTTCACTTCGGACTCTCCATCCCCCCAGTTCCTATCTTTCCTGGTCCCCAAAGATCTCATTTCCCCAGAACACTTGCTAGCGTGCCCTCCTGCGGGCGTCCTCCGTGGCTCTCACTCTGTCCATCCTCCTGTCTCCCCGAGTTCCCGTATC
Task1_train_27487
Mutation context: Chromosome 19, Gene ACP4 (acid phosphatase 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Amelogenesis imperfecta, type 1J
AGATGCCACCATACCGTGCCTGGCTAATTTTTGTTTATCTTTTATAGAGATGGAGTCGGGTGCGGGGGGTGGGTCTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAACCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCCAGCTCCTGGTCTGGCTTAAGCCTCCAGCCCTTCTACTTCTTTATTCCAGGGGCCTCTACCCTATTTCAAGTACGAGGAGAGACAGAGATTCACAAAACTTTTGTATCTGGTGCAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTAAGAGCAGTCTGGGCAACACAGCAAAACCCTGTCTCAAAAAACAACAAAAACCTAGGACAGGACTGGAGGCTGACTGTGCGCAGTGAGGCAGGAGAGCCAGCCAGCCCCAGGTGGTGCTGCGAAGTGTAGATTTTATTAGCATTGTGGGATGGTGAGGCCGCCTGAGCAGCAGACGATTGCCATTGAAAGATGACTTGTTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAAGCCGAGGCGAGTGGATCACCTGAGGTCAGGAGTTGAAGACCAGCCTGGCCATATATATATATATACAAAAATTAGCCGGGCATGGTCGCGTGTGTCTGTAATCCCAGCTACTAGGGGGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTGGAGGTTGCAGCAAGCTGAGACTGTGTCACTGCACTCCAGCCTGGGAAACAGAGTAAGACTACATCTCAAAAAAAAAAAAAAAAAGGAAAGAAAAGAAAAAAGAAAGAAAGGAAGATGACTTGTTATACTCACAGCTTCCCCAGAGGAGGGGGCATGCCACAGGGGCCACATGGGGACGCACCAATGGTGCCCAGGAGGTAGACCACGAGCAAGCGGCTTCCTTGTGTTTTCTGTGGGATAAGGTAGGGTAAAGAGTGGCTGGTTGCGCCATTTCAGCAGGCTCTGGGGCACAGGGGCTGTCCTGAGTTGTCCGATACCCTGCCCCGGGTGATCAGGGCAGGTGGATGGTGGCCTGGGTGGTGGGTTGGCTGGTTTGTACAGGAGAGGCATGCGCTTGGGCCAGTCCCTGACTATCTCCAGGAACTGGTAACCCTGGGAGGGGTGGTCCTTCTACGATCAGCAAGGCCCCTGATGTCAAAGCATCAGAGTACAGAAAATCAAGCACATAGTTACTATCGTCAGCCTCTGCAACTCAGGGGGTCAAGACTGTTGCTGAGACGAACAATGTGGGGTGGGGGTCTCTGTCCAAGTCTGCAACCAGGTTAAAGGCACCTGTGTTCAAATCGCAGCTTTGTCTGAGAAATCTGTGTTTTCTCAGGCCAGTTAGGGAACCCTTCTGTGCCTCAGTTTCCCCATCGGTACAATGGGGATGGTGGTAAGCACATCAGTGTCTCCTGGGGCAGCGATGAAGATGAAACGAAGATGAAACGGGTTAATCCAAGGCTGGCAGAGGCGCTGGGGAATGGGATCTGTGGCCCCTGGGGGAGCGTGCCAGGGCCTGCTATAATGGGGGTGCTGAGTGCAGGGCTGGGACAGGCGGGGCTGCGGCCCAGACAGTGGGCTGAGCTCAGCGTCTGGGCTGGGTGGAAATGGCCGGCCTGGGGTTTTGGGGCCACCCTGCTGGACCTCTCCTGCTGCTGCTGCTGCTGGTGCTGCCACCCCGGGCCCTGCCAGAAGGACCCCTGGTGTTCGTGGCTCTGGTGAGGCGCCCCCACCCCGGCCTGCCCTTAGCTCCCCCAGGGCTAGCCCTGACCAGTCCTGTCCCCAGGTATTCCGCCATGGCGACCGGGCCCCGCTGGCCTCCTACCCCATGGACCCACACAAGGAGGTGGCCTCCACCCTGTGGCCACGAGGCCTGGGCCAGCTGACCACGGTGAGAAGCGGGTAGGCGGTGAGGGCAAGGGTGGGAGGGGTGGGGAGTGGTAGGCTGAGGCTGTTCTGTCCCCAGGAGGGGGTCCGCCAGCAGCTGGAGCTGGGCCGCTTCCTGAGGAGCCGCTACGAGGCCTTCCTGAGTCCGGAGTACCGGCGGGAGGAGGTAGGGCCATAGTGACCCCCACCTGGCCCCCTGACCTCCCACCTGTGACCTCCACTGACTACAACGCTCTCTTTGGGCCTCCACCTCTGGCCTTTGACCTCCATCAACCTGACTTGCCCTCTACCTCTAATCTCTGACCCCCGATACACTGACTAACCCACACTGACTTCTGACCCCATCTCAACCTGTCACATCTCGACCTCTGACCTCCATCAACTCTGACTTTATTTTCTGGCCTCCATCTCTGTTTTCTAAGTCCCATTGACTCCAGTCAGACCTCTGGCCTCTGACATTTGACCCCAAACTTGATTTCGATCTTTGACCCTTGTTGACGTAACTTGCCCTCTTGACCTCTAACCTTTAACCTCTACGCTTTATCAATTCTGACCTACCTTTTCTGTCTCCTCCTATGTCTTCTGACATCCCCCAGCTACAGACAGTCCTCCTAACCTCTGAAGAACATGTATTGAACTCTGACTCCAAGTCCTCCAAGCTGCCCTCCTAAACTTGACCTCTAACCTCCAGCCTCTACTGATTCTGATCTTCCTTTTTGACCCTCATTGACTCAATTGACCCCCTAAATCCAACATGGCTGTCCAGCTTAGGACGTCCAGCCCAACTGCTCCTGACATTAGCCTCTGGACCCTTGATCCCAACTTCCAACTTCGAAGGCCACATGATTCTCAGTGTCTGACCCCTACTCCAAAGTGAATCTGAGGCTTCTGATTTGCCACGACAGCTGACCTCTGTCCCCAACCACGACCCCCCGCGTGCCCTCTCTCCACCCCGCTCCAGGTGTACATCCGCAGCACGGACTTTGACCGCACGCTGGAGAGTGCCCAGGCCAACCTTGCCGGGCTGTTTCCCGAGGCTGCTCCAGGGAGCCCCGAGGCCCGCTGGAGGCCGATCCCGGTGCACACGGTGCCCGTGGCTGAGGATAAGGTCAGGGGGCTGGACCCACGTGTGGCGAGGGAGGGAGCGGGTGGAGAGAGAGGCAGCTCTGGGTCTGGCCGCCTGAGCTGGCTCCGAGAAGCAAGACTGTCCTCGAGCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCACGCTGCTCTCCTGGATCTGGGAGAAACTGCGACAAAGACGCAGGGGCCGAGAGCCCGGGTTCCCCCGACCCGCTGTGAGACCCAAGGCAAGGCACACGGCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCTGCTGAGGTTCCCCATGCGCAGCTGTCCCCGATACCACGAGCTGCTGCGGGAGGCCACCGAGGCCGCCGAGTACCAGGAGGCCCTGGAGGGCTGGACGGTGAGCAGGGCGGCGGTGGGGGGCGGGATGCAGGGGATGGGCCTGGGCTCACCCAGCCCCGCGCATCCAGGGCTTCCTGAGTCGCCTGGAGAACTTCACGGGACTGTCGCTGGTTGGAGAGCCACTGCGCAGGGCATGGAAGGTTCTGGACACCCTCATGTGCCAGGTGAGCCCTGCCCCTTCCCAGCCAAGGGTTTAAGGACACCTGTTTCCAATCCCAGCTTGCTACTCACTAGCTGTGTTCCCTCAGGCATGTAGTTAATCCTCTGTGCCTCAGTTTTCCCATCTGCACAGTGGGGATGGCAACACCGGTATCAACACCTCCCCAGGACGCTGTGAGGATTCAAATGGGTTAATCCACGCACTGTGCTTACAATAGTGCCTGGTGTACAGTGAGGGCCTTGCCAGGGTTTGAGGCTACACATTTGGCAACTCCTCCCCACAGTCCTATAATCAGAAAACCCAAAACCTGGGCAGCGGGAGCTGACCTGAAATGATGCAATGCTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATTATCATAGCTCACTGCAGCCTCCATCTCCCTGGCTATAGGAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGGCAGGCAGGGGCA
AGATGCCACCATACCGTGCCTGGCTAATTTTTGTTTATCTTTTATAGAGATGGAGTCGGGTGCGGGGGGTGGGTCTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAACCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCCAGCTCCTGGTCTGGCTTAAGCCTCCAGCCCTTCTACTTCTTTATTCCAGGGGCCTCTACCCTATTTCAAGTACGAGGAGAGACAGAGATTCACAAAACTTTTGTATCTGGTGCAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTAAGAGCAGTCTGGGCAACACAGCAAAACCCTGTCTCAAAAAACAACAAAAACCTAGGACAGGACTGGAGGCTGACTGTGCGCAGTGAGGCAGGAGAGCCAGCCAGCCCCAGGTGGTGCTGCGAAGTGTAGATTTTATTAGCATTGTGGGATGGTGAGGCCGCCTGAGCAGCAGACGATTGCCATTGAAAGATGACTTGTTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAAGCCGAGGCGAGTGGATCACCTGAGGTCAGGAGTTGAAGACCAGCCTGGCCATATATATATATATACAAAAATTAGCCGGGCATGGTCGCGTGTGTCTGTAATCCCAGCTACTAGGGGGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTGGAGGTTGCAGCAAGCTGAGACTGTGTCACTGCACTCCAGCCTGGGAAACAGAGTAAGACTACATCTCAAAAAAAAAAAAAAAAAGGAAAGAAAAGAAAAAAGAAAGAAAGGAAGATGACTTGTTATACTCACAGCTTCCCCAGAGGAGGGGGCATGCCACAGGGGCCACATGGGGACGCACCAATGGTGCCCAGGAGGTAGACCACGAGCAAGCGGCTTCCTTGTGTTTTCTGTGGGATAAGGTAGGGTAAAGAGTGGCTGGTTGCGCCATTTCAGCAGGCTCTGGGGCACAGGGGCTGTCCTGAGTTGTCCGATACCCTGCCCCGGGTGATCAGGGCAGGTGGATGGTGGCCTGGGTGGTGGGTTGGCTGGTTTGTACAGGAGAGGCATGCGCTTGGGCCAGTCCCTGACTATCTCCAGGAACTGGTAACCCTGGGAGGGGTGGTCCTTCTACGATCAGCAAGGCCCCTGATGTCAAAGCATCAGAGTACAGAAAATCAAGCACATAGTTACTATCGTCAGCCTCTGCAACTCAGGGGGTCAAGACTGTTGCTGAGACGAACAATGTGGGGTGGGGGTCTCTGTCCAAGTCTGCAACCAGGTTAAAGGCACCTGTGTTCAAATCGCAGCTTTGTCTGAGAAATCTGTGTTTTCTCAGGCCAGTTAGGGAACCCTTCTGTGCCTCAGTTTCCCCATCGGTACAATGGGGATGGTGGTAAGCACATCAGTGTCTCCTGGGGCAGCGATGAAGATGAAACGAAGATGAAACGGGTTAATCCAAGGCTGGCAGAGGCGCTGGGGAATGGGATCTGTGGCCCCTGGGGGAGCGTGCCAGGGCCTGCTATAATGGGGGTGCTGAGTGCAGGGCTGGGACAGGCGGGGCTGCGGCCCAGACAGTGGGCTGAGCTCAGCGTCTGGGCTGGGTGGAAATGGCCGGCCTGGGGTTTTGGGGCCACCCTGCTGGACCTCTCCTGCTGCTGCTGCTGCTGGTGCTGCCACCCCGGGCCCTGCCAGAAGGACCCCTGGTGTTCGTGGCTCTGGTGAGGCGCCCCCACCCCGGCCTGCCCTTAGCTCCCCCAGGGCTAGCCCTGACCAGTCCTGTCCCCAGGTATTCCGCCATGGCGACCGGGCCCCGCTGGCCTCCTACCCCATGGACCCACACAAGGAGGTGGCCTCCACCCTGTGGCCACGAGGCCTGGGCCAGCTGACCACGGTGAGAAGCGGGTAGGCGGTGAGGGCAAGGGTGGGAGGGGTGGGGAGTGGTAGGCTGAGGCTGTTCTGTCCCCAGGAGGGGGTCTGCCAGCAGCTGGAGCTGGGCCGCTTCCTGAGGAGCCGCTACGAGGCCTTCCTGAGTCCGGAGTACCGGCGGGAGGAGGTAGGGCCATAGTGACCCCCACCTGGCCCCCTGACCTCCCACCTGTGACCTCCACTGACTACAACGCTCTCTTTGGGCCTCCACCTCTGGCCTTTGACCTCCATCAACCTGACTTGCCCTCTACCTCTAATCTCTGACCCCCGATACACTGACTAACCCACACTGACTTCTGACCCCATCTCAACCTGTCACATCTCGACCTCTGACCTCCATCAACTCTGACTTTATTTTCTGGCCTCCATCTCTGTTTTCTAAGTCCCATTGACTCCAGTCAGACCTCTGGCCTCTGACATTTGACCCCAAACTTGATTTCGATCTTTGACCCTTGTTGACGTAACTTGCCCTCTTGACCTCTAACCTTTAACCTCTACGCTTTATCAATTCTGACCTACCTTTTCTGTCTCCTCCTATGTCTTCTGACATCCCCCAGCTACAGACAGTCCTCCTAACCTCTGAAGAACATGTATTGAACTCTGACTCCAAGTCCTCCAAGCTGCCCTCCTAAACTTGACCTCTAACCTCCAGCCTCTACTGATTCTGATCTTCCTTTTTGACCCTCATTGACTCAATTGACCCCCTAAATCCAACATGGCTGTCCAGCTTAGGACGTCCAGCCCAACTGCTCCTGACATTAGCCTCTGGACCCTTGATCCCAACTTCCAACTTCGAAGGCCACATGATTCTCAGTGTCTGACCCCTACTCCAAAGTGAATCTGAGGCTTCTGATTTGCCACGACAGCTGACCTCTGTCCCCAACCACGACCCCCCGCGTGCCCTCTCTCCACCCCGCTCCAGGTGTACATCCGCAGCACGGACTTTGACCGCACGCTGGAGAGTGCCCAGGCCAACCTTGCCGGGCTGTTTCCCGAGGCTGCTCCAGGGAGCCCCGAGGCCCGCTGGAGGCCGATCCCGGTGCACACGGTGCCCGTGGCTGAGGATAAGGTCAGGGGGCTGGACCCACGTGTGGCGAGGGAGGGAGCGGGTGGAGAGAGAGGCAGCTCTGGGTCTGGCCGCCTGAGCTGGCTCCGAGAAGCAAGACTGTCCTCGAGCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCACGCTGCTCTCCTGGATCTGGGAGAAACTGCGACAAAGACGCAGGGGCCGAGAGCCCGGGTTCCCCCGACCCGCTGTGAGACCCAAGGCAAGGCACACGGCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCTGCTGAGGTTCCCCATGCGCAGCTGTCCCCGATACCACGAGCTGCTGCGGGAGGCCACCGAGGCCGCCGAGTACCAGGAGGCCCTGGAGGGCTGGACGGTGAGCAGGGCGGCGGTGGGGGGCGGGATGCAGGGGATGGGCCTGGGCTCACCCAGCCCCGCGCATCCAGGGCTTCCTGAGTCGCCTGGAGAACTTCACGGGACTGTCGCTGGTTGGAGAGCCACTGCGCAGGGCATGGAAGGTTCTGGACACCCTCATGTGCCAGGTGAGCCCTGCCCCTTCCCAGCCAAGGGTTTAAGGACACCTGTTTCCAATCCCAGCTTGCTACTCACTAGCTGTGTTCCCTCAGGCATGTAGTTAATCCTCTGTGCCTCAGTTTTCCCATCTGCACAGTGGGGATGGCAACACCGGTATCAACACCTCCCCAGGACGCTGTGAGGATTCAAATGGGTTAATCCACGCACTGTGCTTACAATAGTGCCTGGTGTACAGTGAGGGCCTTGCCAGGGTTTGAGGCTACACATTTGGCAACTCCTCCCCACAGTCCTATAATCAGAAAACCCAAAACCTGGGCAGCGGGAGCTGACCTGAAATGATGCAATGCTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATTATCATAGCTCACTGCAGCCTCCATCTCCCTGGCTATAGGAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGGCAGGCAGGGGCA
Task1_train_27488
This gene mutation involves ACP4 (acid phosphatase 4) on Chromosome 19. Is it associated with any clinical condition, or is it benign?
Pathogenic; Amelogenesis imperfecta, type 1J
GACCACGAGCAAGCGGCTTCCTTGTGTTTTCTGTGGGATAAGGTAGGGTAAAGAGTGGCTGGTTGCGCCATTTCAGCAGGCTCTGGGGCACAGGGGCTGTCCTGAGTTGTCCGATACCCTGCCCCGGGTGATCAGGGCAGGTGGATGGTGGCCTGGGTGGTGGGTTGGCTGGTTTGTACAGGAGAGGCATGCGCTTGGGCCAGTCCCTGACTATCTCCAGGAACTGGTAACCCTGGGAGGGGTGGTCCTTCTACGATCAGCAAGGCCCCTGATGTCAAAGCATCAGAGTACAGAAAATCAAGCACATAGTTACTATCGTCAGCCTCTGCAACTCAGGGGGTCAAGACTGTTGCTGAGACGAACAATGTGGGGTGGGGGTCTCTGTCCAAGTCTGCAACCAGGTTAAAGGCACCTGTGTTCAAATCGCAGCTTTGTCTGAGAAATCTGTGTTTTCTCAGGCCAGTTAGGGAACCCTTCTGTGCCTCAGTTTCCCCATCGGTACAATGGGGATGGTGGTAAGCACATCAGTGTCTCCTGGGGCAGCGATGAAGATGAAACGAAGATGAAACGGGTTAATCCAAGGCTGGCAGAGGCGCTGGGGAATGGGATCTGTGGCCCCTGGGGGAGCGTGCCAGGGCCTGCTATAATGGGGGTGCTGAGTGCAGGGCTGGGACAGGCGGGGCTGCGGCCCAGACAGTGGGCTGAGCTCAGCGTCTGGGCTGGGTGGAAATGGCCGGCCTGGGGTTTTGGGGCCACCCTGCTGGACCTCTCCTGCTGCTGCTGCTGCTGGTGCTGCCACCCCGGGCCCTGCCAGAAGGACCCCTGGTGTTCGTGGCTCTGGTGAGGCGCCCCCACCCCGGCCTGCCCTTAGCTCCCCCAGGGCTAGCCCTGACCAGTCCTGTCCCCAGGTATTCCGCCATGGCGACCGGGCCCCGCTGGCCTCCTACCCCATGGACCCACACAAGGAGGTGGCCTCCACCCTGTGGCCACGAGGCCTGGGCCAGCTGACCACGGTGAGAAGCGGGTAGGCGGTGAGGGCAAGGGTGGGAGGGGTGGGGAGTGGTAGGCTGAGGCTGTTCTGTCCCCAGGAGGGGGTCCGCCAGCAGCTGGAGCTGGGCCGCTTCCTGAGGAGCCGCTACGAGGCCTTCCTGAGTCCGGAGTACCGGCGGGAGGAGGTAGGGCCATAGTGACCCCCACCTGGCCCCCTGACCTCCCACCTGTGACCTCCACTGACTACAACGCTCTCTTTGGGCCTCCACCTCTGGCCTTTGACCTCCATCAACCTGACTTGCCCTCTACCTCTAATCTCTGACCCCCGATACACTGACTAACCCACACTGACTTCTGACCCCATCTCAACCTGTCACATCTCGACCTCTGACCTCCATCAACTCTGACTTTATTTTCTGGCCTCCATCTCTGTTTTCTAAGTCCCATTGACTCCAGTCAGACCTCTGGCCTCTGACATTTGACCCCAAACTTGATTTCGATCTTTGACCCTTGTTGACGTAACTTGCCCTCTTGACCTCTAACCTTTAACCTCTACGCTTTATCAATTCTGACCTACCTTTTCTGTCTCCTCCTATGTCTTCTGACATCCCCCAGCTACAGACAGTCCTCCTAACCTCTGAAGAACATGTATTGAACTCTGACTCCAAGTCCTCCAAGCTGCCCTCCTAAACTTGACCTCTAACCTCCAGCCTCTACTGATTCTGATCTTCCTTTTTGACCCTCATTGACTCAATTGACCCCCTAAATCCAACATGGCTGTCCAGCTTAGGACGTCCAGCCCAACTGCTCCTGACATTAGCCTCTGGACCCTTGATCCCAACTTCCAACTTCGAAGGCCACATGATTCTCAGTGTCTGACCCCTACTCCAAAGTGAATCTGAGGCTTCTGATTTGCCACGACAGCTGACCTCTGTCCCCAACCACGACCCCCCGCGTGCCCTCTCTCCACCCCGCTCCAGGTGTACATCCGCAGCACGGACTTTGACCGCACGCTGGAGAGTGCCCAGGCCAACCTTGCCGGGCTGTTTCCCGAGGCTGCTCCAGGGAGCCCCGAGGCCCGCTGGAGGCCGATCCCGGTGCACACGGTGCCCGTGGCTGAGGATAAGGTCAGGGGGCTGGACCCACGTGTGGCGAGGGAGGGAGCGGGTGGAGAGAGAGGCAGCTCTGGGTCTGGCCGCCTGAGCTGGCTCCGAGAAGCAAGACTGTCCTCGAGCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCACGCTGCTCTCCTGGATCTGGGAGAAACTGCGACAAAGACGCAGGGGCCGAGAGCCCGGGTTCCCCCGACCCGCTGTGAGACCCAAGGCAAGGCACACGGCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCTGCTGAGGTTCCCCATGCGCAGCTGTCCCCGATACCACGAGCTGCTGCGGGAGGCCACCGAGGCCGCCGAGTACCAGGAGGCCCTGGAGGGCTGGACGGTGAGCAGGGCGGCGGTGGGGGGCGGGATGCAGGGGATGGGCCTGGGCTCACCCAGCCCCGCGCATCCAGGGCTTCCTGAGTCGCCTGGAGAACTTCACGGGACTGTCGCTGGTTGGAGAGCCACTGCGCAGGGCATGGAAGGTTCTGGACACCCTCATGTGCCAGGTGAGCCCTGCCCCTTCCCAGCCAAGGGTTTAAGGACACCTGTTTCCAATCCCAGCTTGCTACTCACTAGCTGTGTTCCCTCAGGCATGTAGTTAATCCTCTGTGCCTCAGTTTTCCCATCTGCACAGTGGGGATGGCAACACCGGTATCAACACCTCCCCAGGACGCTGTGAGGATTCAAATGGGTTAATCCACGCACTGTGCTTACAATAGTGCCTGGTGTACAGTGAGGGCCTTGCCAGGGTTTGAGGCTACACATTTGGCAACTCCTCCCCACAGTCCTATAATCAGAAAACCCAAAACCTGGGCAGCGGGAGCTGACCTGAAATGATGCAATGCTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATTATCATAGCTCACTGCAGCCTCCATCTCCCTGGCTATAGGAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGGCAGGCAGGGGCACACCATCATGCCTGGCTAATTAAAAAAAAATTAATTTTTTGCAGAGATGGGGTCTATGTTGCCCAGGAACTCCTGGGCTCAAACAATCCTTTCGCCTCCCCAAGAGCTGGGATTACAGGCGTGAGCCACCATACCCAGCTAGTACTCTTGCTAGTCTTTGCTCACTCCAGCTCACGGGAATGTTCTGAATCGCAGGGTGGGAGCAGTGATGTGTGTGACTAAGGGGGCTGCCCCGGCCCTTGCTGTGTGTGTTCCATGCTGTGTGGTGTCAGCACCATCAGACCTTTCTAAAGTCCAGAATGTCTGAGCTGTGAAATACCTCTGGCCCCAGGGGTTTCAGATAAAGCCTTCTGGGCTGTGTAATGACGATGTCTATTATTAACTAATAATCGCTGTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCACCACTTTGAGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTCAGACCAGTCTGACCAACACGGTAAAACCCCGTCTCTACTAAAAATAAAAAAAAAAAATTAGCCAGGAATGGTGGCACACACTTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATCACCTGAACCCGAGAGGCAAGGGTTGCAGACAGCCAAGATTGCGCTACTGCACTCCAGCCTAGGTGATGGAGCAAGGCTCCGTTTCAAAACAAAAAACAACAACAAAAAAACACTGTTATCCACATCATGATTTCCCAGCCAGATCCAGATCCGGCCCATGGGGGGACTCAGAAGAGCAGGGGGCAGCACAGGCCTGCGGGGCCAGAGGCAAACTCGAGGGCTCAGGATGGTCCATCTGTCCTGTCTCCCCACAGCAAGCCCACGGTCTTCCACTACCAGCCTGGGCCTCCCCAGATGTCCTGCGGACTCTTGCCCAGATCTCGGCTTTGGATATTGGAGCCCACGTGGGCCC
GACCACGAGCAAGCGGCTTCCTTGTGTTTTCTGTGGGATAAGGTAGGGTAAAGAGTGGCTGGTTGCGCCATTTCAGCAGGCTCTGGGGCACAGGGGCTGTCCTGAGTTGTCCGATACCCTGCCCCGGGTGATCAGGGCAGGTGGATGGTGGCCTGGGTGGTGGGTTGGCTGGTTTGTACAGGAGAGGCATGCGCTTGGGCCAGTCCCTGACTATCTCCAGGAACTGGTAACCCTGGGAGGGGTGGTCCTTCTACGATCAGCAAGGCCCCTGATGTCAAAGCATCAGAGTACAGAAAATCAAGCACATAGTTACTATCGTCAGCCTCTGCAACTCAGGGGGTCAAGACTGTTGCTGAGACGAACAATGTGGGGTGGGGGTCTCTGTCCAAGTCTGCAACCAGGTTAAAGGCACCTGTGTTCAAATCGCAGCTTTGTCTGAGAAATCTGTGTTTTCTCAGGCCAGTTAGGGAACCCTTCTGTGCCTCAGTTTCCCCATCGGTACAATGGGGATGGTGGTAAGCACATCAGTGTCTCCTGGGGCAGCGATGAAGATGAAACGAAGATGAAACGGGTTAATCCAAGGCTGGCAGAGGCGCTGGGGAATGGGATCTGTGGCCCCTGGGGGAGCGTGCCAGGGCCTGCTATAATGGGGGTGCTGAGTGCAGGGCTGGGACAGGCGGGGCTGCGGCCCAGACAGTGGGCTGAGCTCAGCGTCTGGGCTGGGTGGAAATGGCCGGCCTGGGGTTTTGGGGCCACCCTGCTGGACCTCTCCTGCTGCTGCTGCTGCTGGTGCTGCCACCCCGGGCCCTGCCAGAAGGACCCCTGGTGTTCGTGGCTCTGGTGAGGCGCCCCCACCCCGGCCTGCCCTTAGCTCCCCCAGGGCTAGCCCTGACCAGTCCTGTCCCCAGGTATTCCGCCATGGCGACCGGGCCCCGCTGGCCTCCTACCCCATGGACCCACACAAGGAGGTGGCCTCCACCCTGTGGCCACGAGGCCTGGGCCAGCTGACCACGGTGAGAAGCGGGTAGGCGGTGAGGGCAAGGGTGGGAGGGGTGGGGAGTGGTAGGCTGAGGCTGTTCTGTCCCCAGGAGGGGGTCCGCCAGCAGCTGGAGCTGGGCCGCTTCCTGAGGAGCCGCTACGAGGCCTTCCTGAGTCCGGAGTACCGGCGGGAGGAGGTAGGGCCATAGTGACCCCCACCTGGCCCCCTGACCTCCCACCTGTGACCTCCACTGACTACAACGCTCTCTTTGGGCCTCCACCTCTGGCCTTTGACCTCCATCAACCTGACTTGCCCTCTACCTCTAATCTCTGACCCCCGATACACTGACTAACCCACACTGACTTCTGACCCCATCTCAACCTGTCACATCTCGACCTCTGACCTCCATCAACTCTGACTTTATTTTCTGGCCTCCATCTCTGTTTTCTAAGTCCCATTGACTCCAGTCAGACCTCTGGCCTCTGACATTTGACCCCAAACTTGATTTCGATCTTTGACCCTTGTTGACGTAACTTGCCCTCTTGACCTCTAACCTTTAACCTCTACGCTTTATCAATTCTGACCTACCTTTTCTGTCTCCTCCTATGTCTTCTGACATCCCCCAGCTACAGACAGTCCTCCTAACCTCTGAAGAACATGTATTGAACTCTGACTCCAAGTCCTCCAAGCTGCCCTCCTAAACTTGACCTCTAACCTCCAGCCTCTACTGATTCTGATCTTCCTTTTTGACCCTCATTGACTCAATTGACCCCCTAAATCCAACATGGCTGTCCAGCTTAGGACGTCCAGCCCAACTGCTCCTGACATTAGCCTCTGGACCCTTGATCCCAACTTCCAACTTCGAAGGCCACATGATTCTCAGTGTCTGACCCCTACTCCAAAGTGAATCTGAGGCTTCTGATTTGCCACGACAGCTGACCTCTGTCCCCAACCACGACCCCCCGCGTGCCCTCTCTCCACCCCGCTCCAGGTGTACATCCGCAGCACGGACTTTGACCGCACGCTGGAGAGTGCCCAGGCCAACCTTGCCGGGCTGTTTCCCGAGGCTCCTCCAGGGAGCCCCGAGGCCCGCTGGAGGCCGATCCCGGTGCACACGGTGCCCGTGGCTGAGGATAAGGTCAGGGGGCTGGACCCACGTGTGGCGAGGGAGGGAGCGGGTGGAGAGAGAGGCAGCTCTGGGTCTGGCCGCCTGAGCTGGCTCCGAGAAGCAAGACTGTCCTCGAGCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCACGCTGCTCTCCTGGATCTGGGAGAAACTGCGACAAAGACGCAGGGGCCGAGAGCCCGGGTTCCCCCGACCCGCTGTGAGACCCAAGGCAAGGCACACGGCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCTGCTGAGGTTCCCCATGCGCAGCTGTCCCCGATACCACGAGCTGCTGCGGGAGGCCACCGAGGCCGCCGAGTACCAGGAGGCCCTGGAGGGCTGGACGGTGAGCAGGGCGGCGGTGGGGGGCGGGATGCAGGGGATGGGCCTGGGCTCACCCAGCCCCGCGCATCCAGGGCTTCCTGAGTCGCCTGGAGAACTTCACGGGACTGTCGCTGGTTGGAGAGCCACTGCGCAGGGCATGGAAGGTTCTGGACACCCTCATGTGCCAGGTGAGCCCTGCCCCTTCCCAGCCAAGGGTTTAAGGACACCTGTTTCCAATCCCAGCTTGCTACTCACTAGCTGTGTTCCCTCAGGCATGTAGTTAATCCTCTGTGCCTCAGTTTTCCCATCTGCACAGTGGGGATGGCAACACCGGTATCAACACCTCCCCAGGACGCTGTGAGGATTCAAATGGGTTAATCCACGCACTGTGCTTACAATAGTGCCTGGTGTACAGTGAGGGCCTTGCCAGGGTTTGAGGCTACACATTTGGCAACTCCTCCCCACAGTCCTATAATCAGAAAACCCAAAACCTGGGCAGCGGGAGCTGACCTGAAATGATGCAATGCTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATTATCATAGCTCACTGCAGCCTCCATCTCCCTGGCTATAGGAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGGCAGGCAGGGGCACACCATCATGCCTGGCTAATTAAAAAAAAATTAATTTTTTGCAGAGATGGGGTCTATGTTGCCCAGGAACTCCTGGGCTCAAACAATCCTTTCGCCTCCCCAAGAGCTGGGATTACAGGCGTGAGCCACCATACCCAGCTAGTACTCTTGCTAGTCTTTGCTCACTCCAGCTCACGGGAATGTTCTGAATCGCAGGGTGGGAGCAGTGATGTGTGTGACTAAGGGGGCTGCCCCGGCCCTTGCTGTGTGTGTTCCATGCTGTGTGGTGTCAGCACCATCAGACCTTTCTAAAGTCCAGAATGTCTGAGCTGTGAAATACCTCTGGCCCCAGGGGTTTCAGATAAAGCCTTCTGGGCTGTGTAATGACGATGTCTATTATTAACTAATAATCGCTGTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCACCACTTTGAGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTCAGACCAGTCTGACCAACACGGTAAAACCCCGTCTCTACTAAAAATAAAAAAAAAAAATTAGCCAGGAATGGTGGCACACACTTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATCACCTGAACCCGAGAGGCAAGGGTTGCAGACAGCCAAGATTGCGCTACTGCACTCCAGCCTAGGTGATGGAGCAAGGCTCCGTTTCAAAACAAAAAACAACAACAAAAAAACACTGTTATCCACATCATGATTTCCCAGCCAGATCCAGATCCGGCCCATGGGGGGACTCAGAAGAGCAGGGGGCAGCACAGGCCTGCGGGGCCAGAGGCAAACTCGAGGGCTCAGGATGGTCCATCTGTCCTGTCTCCCCACAGCAAGCCCACGGTCTTCCACTACCAGCCTGGGCCTCCCCAGATGTCCTGCGGACTCTTGCCCAGATCTCGGCTTTGGATATTGGAGCCCACGTGGGCCC
Task1_train_27489
A mutation on Chromosome 19 affecting ACP4 (acid phosphatase 4) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Amelogenesis imperfecta, type 1J
GCTTCCTTGTGTTTTCTGTGGGATAAGGTAGGGTAAAGAGTGGCTGGTTGCGCCATTTCAGCAGGCTCTGGGGCACAGGGGCTGTCCTGAGTTGTCCGATACCCTGCCCCGGGTGATCAGGGCAGGTGGATGGTGGCCTGGGTGGTGGGTTGGCTGGTTTGTACAGGAGAGGCATGCGCTTGGGCCAGTCCCTGACTATCTCCAGGAACTGGTAACCCTGGGAGGGGTGGTCCTTCTACGATCAGCAAGGCCCCTGATGTCAAAGCATCAGAGTACAGAAAATCAAGCACATAGTTACTATCGTCAGCCTCTGCAACTCAGGGGGTCAAGACTGTTGCTGAGACGAACAATGTGGGGTGGGGGTCTCTGTCCAAGTCTGCAACCAGGTTAAAGGCACCTGTGTTCAAATCGCAGCTTTGTCTGAGAAATCTGTGTTTTCTCAGGCCAGTTAGGGAACCCTTCTGTGCCTCAGTTTCCCCATCGGTACAATGGGGATGGTGGTAAGCACATCAGTGTCTCCTGGGGCAGCGATGAAGATGAAACGAAGATGAAACGGGTTAATCCAAGGCTGGCAGAGGCGCTGGGGAATGGGATCTGTGGCCCCTGGGGGAGCGTGCCAGGGCCTGCTATAATGGGGGTGCTGAGTGCAGGGCTGGGACAGGCGGGGCTGCGGCCCAGACAGTGGGCTGAGCTCAGCGTCTGGGCTGGGTGGAAATGGCCGGCCTGGGGTTTTGGGGCCACCCTGCTGGACCTCTCCTGCTGCTGCTGCTGCTGGTGCTGCCACCCCGGGCCCTGCCAGAAGGACCCCTGGTGTTCGTGGCTCTGGTGAGGCGCCCCCACCCCGGCCTGCCCTTAGCTCCCCCAGGGCTAGCCCTGACCAGTCCTGTCCCCAGGTATTCCGCCATGGCGACCGGGCCCCGCTGGCCTCCTACCCCATGGACCCACACAAGGAGGTGGCCTCCACCCTGTGGCCACGAGGCCTGGGCCAGCTGACCACGGTGAGAAGCGGGTAGGCGGTGAGGGCAAGGGTGGGAGGGGTGGGGAGTGGTAGGCTGAGGCTGTTCTGTCCCCAGGAGGGGGTCCGCCAGCAGCTGGAGCTGGGCCGCTTCCTGAGGAGCCGCTACGAGGCCTTCCTGAGTCCGGAGTACCGGCGGGAGGAGGTAGGGCCATAGTGACCCCCACCTGGCCCCCTGACCTCCCACCTGTGACCTCCACTGACTACAACGCTCTCTTTGGGCCTCCACCTCTGGCCTTTGACCTCCATCAACCTGACTTGCCCTCTACCTCTAATCTCTGACCCCCGATACACTGACTAACCCACACTGACTTCTGACCCCATCTCAACCTGTCACATCTCGACCTCTGACCTCCATCAACTCTGACTTTATTTTCTGGCCTCCATCTCTGTTTTCTAAGTCCCATTGACTCCAGTCAGACCTCTGGCCTCTGACATTTGACCCCAAACTTGATTTCGATCTTTGACCCTTGTTGACGTAACTTGCCCTCTTGACCTCTAACCTTTAACCTCTACGCTTTATCAATTCTGACCTACCTTTTCTGTCTCCTCCTATGTCTTCTGACATCCCCCAGCTACAGACAGTCCTCCTAACCTCTGAAGAACATGTATTGAACTCTGACTCCAAGTCCTCCAAGCTGCCCTCCTAAACTTGACCTCTAACCTCCAGCCTCTACTGATTCTGATCTTCCTTTTTGACCCTCATTGACTCAATTGACCCCCTAAATCCAACATGGCTGTCCAGCTTAGGACGTCCAGCCCAACTGCTCCTGACATTAGCCTCTGGACCCTTGATCCCAACTTCCAACTTCGAAGGCCACATGATTCTCAGTGTCTGACCCCTACTCCAAAGTGAATCTGAGGCTTCTGATTTGCCACGACAGCTGACCTCTGTCCCCAACCACGACCCCCCGCGTGCCCTCTCTCCACCCCGCTCCAGGTGTACATCCGCAGCACGGACTTTGACCGCACGCTGGAGAGTGCCCAGGCCAACCTTGCCGGGCTGTTTCCCGAGGCTGCTCCAGGGAGCCCCGAGGCCCGCTGGAGGCCGATCCCGGTGCACACGGTGCCCGTGGCTGAGGATAAGGTCAGGGGGCTGGACCCACGTGTGGCGAGGGAGGGAGCGGGTGGAGAGAGAGGCAGCTCTGGGTCTGGCCGCCTGAGCTGGCTCCGAGAAGCAAGACTGTCCTCGAGCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCACGCTGCTCTCCTGGATCTGGGAGAAACTGCGACAAAGACGCAGGGGCCGAGAGCCCGGGTTCCCCCGACCCGCTGTGAGACCCAAGGCAAGGCACACGGCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCTGCTGAGGTTCCCCATGCGCAGCTGTCCCCGATACCACGAGCTGCTGCGGGAGGCCACCGAGGCCGCCGAGTACCAGGAGGCCCTGGAGGGCTGGACGGTGAGCAGGGCGGCGGTGGGGGGCGGGATGCAGGGGATGGGCCTGGGCTCACCCAGCCCCGCGCATCCAGGGCTTCCTGAGTCGCCTGGAGAACTTCACGGGACTGTCGCTGGTTGGAGAGCCACTGCGCAGGGCATGGAAGGTTCTGGACACCCTCATGTGCCAGGTGAGCCCTGCCCCTTCCCAGCCAAGGGTTTAAGGACACCTGTTTCCAATCCCAGCTTGCTACTCACTAGCTGTGTTCCCTCAGGCATGTAGTTAATCCTCTGTGCCTCAGTTTTCCCATCTGCACAGTGGGGATGGCAACACCGGTATCAACACCTCCCCAGGACGCTGTGAGGATTCAAATGGGTTAATCCACGCACTGTGCTTACAATAGTGCCTGGTGTACAGTGAGGGCCTTGCCAGGGTTTGAGGCTACACATTTGGCAACTCCTCCCCACAGTCCTATAATCAGAAAACCCAAAACCTGGGCAGCGGGAGCTGACCTGAAATGATGCAATGCTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATTATCATAGCTCACTGCAGCCTCCATCTCCCTGGCTATAGGAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGGCAGGCAGGGGCACACCATCATGCCTGGCTAATTAAAAAAAAATTAATTTTTTGCAGAGATGGGGTCTATGTTGCCCAGGAACTCCTGGGCTCAAACAATCCTTTCGCCTCCCCAAGAGCTGGGATTACAGGCGTGAGCCACCATACCCAGCTAGTACTCTTGCTAGTCTTTGCTCACTCCAGCTCACGGGAATGTTCTGAATCGCAGGGTGGGAGCAGTGATGTGTGTGACTAAGGGGGCTGCCCCGGCCCTTGCTGTGTGTGTTCCATGCTGTGTGGTGTCAGCACCATCAGACCTTTCTAAAGTCCAGAATGTCTGAGCTGTGAAATACCTCTGGCCCCAGGGGTTTCAGATAAAGCCTTCTGGGCTGTGTAATGACGATGTCTATTATTAACTAATAATCGCTGTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCACCACTTTGAGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTCAGACCAGTCTGACCAACACGGTAAAACCCCGTCTCTACTAAAAATAAAAAAAAAAAATTAGCCAGGAATGGTGGCACACACTTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATCACCTGAACCCGAGAGGCAAGGGTTGCAGACAGCCAAGATTGCGCTACTGCACTCCAGCCTAGGTGATGGAGCAAGGCTCCGTTTCAAAACAAAAAACAACAACAAAAAAACACTGTTATCCACATCATGATTTCCCAGCCAGATCCAGATCCGGCCCATGGGGGGACTCAGAAGAGCAGGGGGCAGCACAGGCCTGCGGGGCCAGAGGCAAACTCGAGGGCTCAGGATGGTCCATCTGTCCTGTCTCCCCACAGCAAGCCCACGGTCTTCCACTACCAGCCTGGGCCTCCCCAGATGTCCTGCGGACTCTTGCCCAGATCTCGGCTTTGGATATTGGAGCCCACGTGGGCCCACCCCGGGCAGCAGA
GCTTCCTTGTGTTTTCTGTGGGATAAGGTAGGGTAAAGAGTGGCTGGTTGCGCCATTTCAGCAGGCTCTGGGGCACAGGGGCTGTCCTGAGTTGTCCGATACCCTGCCCCGGGTGATCAGGGCAGGTGGATGGTGGCCTGGGTGGTGGGTTGGCTGGTTTGTACAGGAGAGGCATGCGCTTGGGCCAGTCCCTGACTATCTCCAGGAACTGGTAACCCTGGGAGGGGTGGTCCTTCTACGATCAGCAAGGCCCCTGATGTCAAAGCATCAGAGTACAGAAAATCAAGCACATAGTTACTATCGTCAGCCTCTGCAACTCAGGGGGTCAAGACTGTTGCTGAGACGAACAATGTGGGGTGGGGGTCTCTGTCCAAGTCTGCAACCAGGTTAAAGGCACCTGTGTTCAAATCGCAGCTTTGTCTGAGAAATCTGTGTTTTCTCAGGCCAGTTAGGGAACCCTTCTGTGCCTCAGTTTCCCCATCGGTACAATGGGGATGGTGGTAAGCACATCAGTGTCTCCTGGGGCAGCGATGAAGATGAAACGAAGATGAAACGGGTTAATCCAAGGCTGGCAGAGGCGCTGGGGAATGGGATCTGTGGCCCCTGGGGGAGCGTGCCAGGGCCTGCTATAATGGGGGTGCTGAGTGCAGGGCTGGGACAGGCGGGGCTGCGGCCCAGACAGTGGGCTGAGCTCAGCGTCTGGGCTGGGTGGAAATGGCCGGCCTGGGGTTTTGGGGCCACCCTGCTGGACCTCTCCTGCTGCTGCTGCTGCTGGTGCTGCCACCCCGGGCCCTGCCAGAAGGACCCCTGGTGTTCGTGGCTCTGGTGAGGCGCCCCCACCCCGGCCTGCCCTTAGCTCCCCCAGGGCTAGCCCTGACCAGTCCTGTCCCCAGGTATTCCGCCATGGCGACCGGGCCCCGCTGGCCTCCTACCCCATGGACCCACACAAGGAGGTGGCCTCCACCCTGTGGCCACGAGGCCTGGGCCAGCTGACCACGGTGAGAAGCGGGTAGGCGGTGAGGGCAAGGGTGGGAGGGGTGGGGAGTGGTAGGCTGAGGCTGTTCTGTCCCCAGGAGGGGGTCCGCCAGCAGCTGGAGCTGGGCCGCTTCCTGAGGAGCCGCTACGAGGCCTTCCTGAGTCCGGAGTACCGGCGGGAGGAGGTAGGGCCATAGTGACCCCCACCTGGCCCCCTGACCTCCCACCTGTGACCTCCACTGACTACAACGCTCTCTTTGGGCCTCCACCTCTGGCCTTTGACCTCCATCAACCTGACTTGCCCTCTACCTCTAATCTCTGACCCCCGATACACTGACTAACCCACACTGACTTCTGACCCCATCTCAACCTGTCACATCTCGACCTCTGACCTCCATCAACTCTGACTTTATTTTCTGGCCTCCATCTCTGTTTTCTAAGTCCCATTGACTCCAGTCAGACCTCTGGCCTCTGACATTTGACCCCAAACTTGATTTCGATCTTTGACCCTTGTTGACGTAACTTGCCCTCTTGACCTCTAACCTTTAACCTCTACGCTTTATCAATTCTGACCTACCTTTTCTGTCTCCTCCTATGTCTTCTGACATCCCCCAGCTACAGACAGTCCTCCTAACCTCTGAAGAACATGTATTGAACTCTGACTCCAAGTCCTCCAAGCTGCCCTCCTAAACTTGACCTCTAACCTCCAGCCTCTACTGATTCTGATCTTCCTTTTTGACCCTCATTGACTCAATTGACCCCCTAAATCCAACATGGCTGTCCAGCTTAGGACGTCCAGCCCAACTGCTCCTGACATTAGCCTCTGGACCCTTGATCCCAACTTCCAACTTCGAAGGCCACATGATTCTCAGTGTCTGACCCCTACTCCAAAGTGAATCTGAGGCTTCTGATTTGCCACGACAGCTGACCTCTGTCCCCAACCACGACCCCCCGCGTGCCCTCTCTCCACCCCGCTCCAGGTGTACATCCGCAGCACGGACTTTGACCGCACGCTGGAGAGTGCCCAGGCCAACCTTGCCGGGCTGTTTCCCGAGGCTGCTCCAGGGAGCCCCAAGGCCCGCTGGAGGCCGATCCCGGTGCACACGGTGCCCGTGGCTGAGGATAAGGTCAGGGGGCTGGACCCACGTGTGGCGAGGGAGGGAGCGGGTGGAGAGAGAGGCAGCTCTGGGTCTGGCCGCCTGAGCTGGCTCCGAGAAGCAAGACTGTCCTCGAGCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCACGCTGCTCTCCTGGATCTGGGAGAAACTGCGACAAAGACGCAGGGGCCGAGAGCCCGGGTTCCCCCGACCCGCTGTGAGACCCAAGGCAAGGCACACGGCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCTGCTGAGGTTCCCCATGCGCAGCTGTCCCCGATACCACGAGCTGCTGCGGGAGGCCACCGAGGCCGCCGAGTACCAGGAGGCCCTGGAGGGCTGGACGGTGAGCAGGGCGGCGGTGGGGGGCGGGATGCAGGGGATGGGCCTGGGCTCACCCAGCCCCGCGCATCCAGGGCTTCCTGAGTCGCCTGGAGAACTTCACGGGACTGTCGCTGGTTGGAGAGCCACTGCGCAGGGCATGGAAGGTTCTGGACACCCTCATGTGCCAGGTGAGCCCTGCCCCTTCCCAGCCAAGGGTTTAAGGACACCTGTTTCCAATCCCAGCTTGCTACTCACTAGCTGTGTTCCCTCAGGCATGTAGTTAATCCTCTGTGCCTCAGTTTTCCCATCTGCACAGTGGGGATGGCAACACCGGTATCAACACCTCCCCAGGACGCTGTGAGGATTCAAATGGGTTAATCCACGCACTGTGCTTACAATAGTGCCTGGTGTACAGTGAGGGCCTTGCCAGGGTTTGAGGCTACACATTTGGCAACTCCTCCCCACAGTCCTATAATCAGAAAACCCAAAACCTGGGCAGCGGGAGCTGACCTGAAATGATGCAATGCTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATTATCATAGCTCACTGCAGCCTCCATCTCCCTGGCTATAGGAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGGCAGGCAGGGGCACACCATCATGCCTGGCTAATTAAAAAAAAATTAATTTTTTGCAGAGATGGGGTCTATGTTGCCCAGGAACTCCTGGGCTCAAACAATCCTTTCGCCTCCCCAAGAGCTGGGATTACAGGCGTGAGCCACCATACCCAGCTAGTACTCTTGCTAGTCTTTGCTCACTCCAGCTCACGGGAATGTTCTGAATCGCAGGGTGGGAGCAGTGATGTGTGTGACTAAGGGGGCTGCCCCGGCCCTTGCTGTGTGTGTTCCATGCTGTGTGGTGTCAGCACCATCAGACCTTTCTAAAGTCCAGAATGTCTGAGCTGTGAAATACCTCTGGCCCCAGGGGTTTCAGATAAAGCCTTCTGGGCTGTGTAATGACGATGTCTATTATTAACTAATAATCGCTGTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCACCACTTTGAGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTCAGACCAGTCTGACCAACACGGTAAAACCCCGTCTCTACTAAAAATAAAAAAAAAAAATTAGCCAGGAATGGTGGCACACACTTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATCACCTGAACCCGAGAGGCAAGGGTTGCAGACAGCCAAGATTGCGCTACTGCACTCCAGCCTAGGTGATGGAGCAAGGCTCCGTTTCAAAACAAAAAACAACAACAAAAAAACACTGTTATCCACATCATGATTTCCCAGCCAGATCCAGATCCGGCCCATGGGGGGACTCAGAAGAGCAGGGGGCAGCACAGGCCTGCGGGGCCAGAGGCAAACTCGAGGGCTCAGGATGGTCCATCTGTCCTGTCTCCCCACAGCAAGCCCACGGTCTTCCACTACCAGCCTGGGCCTCCCCAGATGTCCTGCGGACTCTTGCCCAGATCTCGGCTTTGGATATTGGAGCCCACGTGGGCCCACCCCGGGCAGCAGA
Task1_train_27490
This genomic variant is located on Chromosome 19, within the ACP4 (acid phosphatase 4) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Amelogenesis imperfecta, type 1J
GGTAAAGAGTGGCTGGTTGCGCCATTTCAGCAGGCTCTGGGGCACAGGGGCTGTCCTGAGTTGTCCGATACCCTGCCCCGGGTGATCAGGGCAGGTGGATGGTGGCCTGGGTGGTGGGTTGGCTGGTTTGTACAGGAGAGGCATGCGCTTGGGCCAGTCCCTGACTATCTCCAGGAACTGGTAACCCTGGGAGGGGTGGTCCTTCTACGATCAGCAAGGCCCCTGATGTCAAAGCATCAGAGTACAGAAAATCAAGCACATAGTTACTATCGTCAGCCTCTGCAACTCAGGGGGTCAAGACTGTTGCTGAGACGAACAATGTGGGGTGGGGGTCTCTGTCCAAGTCTGCAACCAGGTTAAAGGCACCTGTGTTCAAATCGCAGCTTTGTCTGAGAAATCTGTGTTTTCTCAGGCCAGTTAGGGAACCCTTCTGTGCCTCAGTTTCCCCATCGGTACAATGGGGATGGTGGTAAGCACATCAGTGTCTCCTGGGGCAGCGATGAAGATGAAACGAAGATGAAACGGGTTAATCCAAGGCTGGCAGAGGCGCTGGGGAATGGGATCTGTGGCCCCTGGGGGAGCGTGCCAGGGCCTGCTATAATGGGGGTGCTGAGTGCAGGGCTGGGACAGGCGGGGCTGCGGCCCAGACAGTGGGCTGAGCTCAGCGTCTGGGCTGGGTGGAAATGGCCGGCCTGGGGTTTTGGGGCCACCCTGCTGGACCTCTCCTGCTGCTGCTGCTGCTGGTGCTGCCACCCCGGGCCCTGCCAGAAGGACCCCTGGTGTTCGTGGCTCTGGTGAGGCGCCCCCACCCCGGCCTGCCCTTAGCTCCCCCAGGGCTAGCCCTGACCAGTCCTGTCCCCAGGTATTCCGCCATGGCGACCGGGCCCCGCTGGCCTCCTACCCCATGGACCCACACAAGGAGGTGGCCTCCACCCTGTGGCCACGAGGCCTGGGCCAGCTGACCACGGTGAGAAGCGGGTAGGCGGTGAGGGCAAGGGTGGGAGGGGTGGGGAGTGGTAGGCTGAGGCTGTTCTGTCCCCAGGAGGGGGTCCGCCAGCAGCTGGAGCTGGGCCGCTTCCTGAGGAGCCGCTACGAGGCCTTCCTGAGTCCGGAGTACCGGCGGGAGGAGGTAGGGCCATAGTGACCCCCACCTGGCCCCCTGACCTCCCACCTGTGACCTCCACTGACTACAACGCTCTCTTTGGGCCTCCACCTCTGGCCTTTGACCTCCATCAACCTGACTTGCCCTCTACCTCTAATCTCTGACCCCCGATACACTGACTAACCCACACTGACTTCTGACCCCATCTCAACCTGTCACATCTCGACCTCTGACCTCCATCAACTCTGACTTTATTTTCTGGCCTCCATCTCTGTTTTCTAAGTCCCATTGACTCCAGTCAGACCTCTGGCCTCTGACATTTGACCCCAAACTTGATTTCGATCTTTGACCCTTGTTGACGTAACTTGCCCTCTTGACCTCTAACCTTTAACCTCTACGCTTTATCAATTCTGACCTACCTTTTCTGTCTCCTCCTATGTCTTCTGACATCCCCCAGCTACAGACAGTCCTCCTAACCTCTGAAGAACATGTATTGAACTCTGACTCCAAGTCCTCCAAGCTGCCCTCCTAAACTTGACCTCTAACCTCCAGCCTCTACTGATTCTGATCTTCCTTTTTGACCCTCATTGACTCAATTGACCCCCTAAATCCAACATGGCTGTCCAGCTTAGGACGTCCAGCCCAACTGCTCCTGACATTAGCCTCTGGACCCTTGATCCCAACTTCCAACTTCGAAGGCCACATGATTCTCAGTGTCTGACCCCTACTCCAAAGTGAATCTGAGGCTTCTGATTTGCCACGACAGCTGACCTCTGTCCCCAACCACGACCCCCCGCGTGCCCTCTCTCCACCCCGCTCCAGGTGTACATCCGCAGCACGGACTTTGACCGCACGCTGGAGAGTGCCCAGGCCAACCTTGCCGGGCTGTTTCCCGAGGCTGCTCCAGGGAGCCCCGAGGCCCGCTGGAGGCCGATCCCGGTGCACACGGTGCCCGTGGCTGAGGATAAGGTCAGGGGGCTGGACCCACGTGTGGCGAGGGAGGGAGCGGGTGGAGAGAGAGGCAGCTCTGGGTCTGGCCGCCTGAGCTGGCTCCGAGAAGCAAGACTGTCCTCGAGCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCACGCTGCTCTCCTGGATCTGGGAGAAACTGCGACAAAGACGCAGGGGCCGAGAGCCCGGGTTCCCCCGACCCGCTGTGAGACCCAAGGCAAGGCACACGGCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCTGCTGAGGTTCCCCATGCGCAGCTGTCCCCGATACCACGAGCTGCTGCGGGAGGCCACCGAGGCCGCCGAGTACCAGGAGGCCCTGGAGGGCTGGACGGTGAGCAGGGCGGCGGTGGGGGGCGGGATGCAGGGGATGGGCCTGGGCTCACCCAGCCCCGCGCATCCAGGGCTTCCTGAGTCGCCTGGAGAACTTCACGGGACTGTCGCTGGTTGGAGAGCCACTGCGCAGGGCATGGAAGGTTCTGGACACCCTCATGTGCCAGGTGAGCCCTGCCCCTTCCCAGCCAAGGGTTTAAGGACACCTGTTTCCAATCCCAGCTTGCTACTCACTAGCTGTGTTCCCTCAGGCATGTAGTTAATCCTCTGTGCCTCAGTTTTCCCATCTGCACAGTGGGGATGGCAACACCGGTATCAACACCTCCCCAGGACGCTGTGAGGATTCAAATGGGTTAATCCACGCACTGTGCTTACAATAGTGCCTGGTGTACAGTGAGGGCCTTGCCAGGGTTTGAGGCTACACATTTGGCAACTCCTCCCCACAGTCCTATAATCAGAAAACCCAAAACCTGGGCAGCGGGAGCTGACCTGAAATGATGCAATGCTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATTATCATAGCTCACTGCAGCCTCCATCTCCCTGGCTATAGGAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGGCAGGCAGGGGCACACCATCATGCCTGGCTAATTAAAAAAAAATTAATTTTTTGCAGAGATGGGGTCTATGTTGCCCAGGAACTCCTGGGCTCAAACAATCCTTTCGCCTCCCCAAGAGCTGGGATTACAGGCGTGAGCCACCATACCCAGCTAGTACTCTTGCTAGTCTTTGCTCACTCCAGCTCACGGGAATGTTCTGAATCGCAGGGTGGGAGCAGTGATGTGTGTGACTAAGGGGGCTGCCCCGGCCCTTGCTGTGTGTGTTCCATGCTGTGTGGTGTCAGCACCATCAGACCTTTCTAAAGTCCAGAATGTCTGAGCTGTGAAATACCTCTGGCCCCAGGGGTTTCAGATAAAGCCTTCTGGGCTGTGTAATGACGATGTCTATTATTAACTAATAATCGCTGTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCACCACTTTGAGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTCAGACCAGTCTGACCAACACGGTAAAACCCCGTCTCTACTAAAAATAAAAAAAAAAAATTAGCCAGGAATGGTGGCACACACTTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATCACCTGAACCCGAGAGGCAAGGGTTGCAGACAGCCAAGATTGCGCTACTGCACTCCAGCCTAGGTGATGGAGCAAGGCTCCGTTTCAAAACAAAAAACAACAACAAAAAAACACTGTTATCCACATCATGATTTCCCAGCCAGATCCAGATCCGGCCCATGGGGGGACTCAGAAGAGCAGGGGGCAGCACAGGCCTGCGGGGCCAGAGGCAAACTCGAGGGCTCAGGATGGTCCATCTGTCCTGTCTCCCCACAGCAAGCCCACGGTCTTCCACTACCAGCCTGGGCCTCCCCAGATGTCCTGCGGACTCTTGCCCAGATCTCGGCTTTGGATATTGGAGCCCACGTGGGCCCACCCCGGGCAGCAGAGAAGGCCCAGCTGACAGGGGGTGAGGTGTGG
GGTAAAGAGTGGCTGGTTGCGCCATTTCAGCAGGCTCTGGGGCACAGGGGCTGTCCTGAGTTGTCCGATACCCTGCCCCGGGTGATCAGGGCAGGTGGATGGTGGCCTGGGTGGTGGGTTGGCTGGTTTGTACAGGAGAGGCATGCGCTTGGGCCAGTCCCTGACTATCTCCAGGAACTGGTAACCCTGGGAGGGGTGGTCCTTCTACGATCAGCAAGGCCCCTGATGTCAAAGCATCAGAGTACAGAAAATCAAGCACATAGTTACTATCGTCAGCCTCTGCAACTCAGGGGGTCAAGACTGTTGCTGAGACGAACAATGTGGGGTGGGGGTCTCTGTCCAAGTCTGCAACCAGGTTAAAGGCACCTGTGTTCAAATCGCAGCTTTGTCTGAGAAATCTGTGTTTTCTCAGGCCAGTTAGGGAACCCTTCTGTGCCTCAGTTTCCCCATCGGTACAATGGGGATGGTGGTAAGCACATCAGTGTCTCCTGGGGCAGCGATGAAGATGAAACGAAGATGAAACGGGTTAATCCAAGGCTGGCAGAGGCGCTGGGGAATGGGATCTGTGGCCCCTGGGGGAGCGTGCCAGGGCCTGCTATAATGGGGGTGCTGAGTGCAGGGCTGGGACAGGCGGGGCTGCGGCCCAGACAGTGGGCTGAGCTCAGCGTCTGGGCTGGGTGGAAATGGCCGGCCTGGGGTTTTGGGGCCACCCTGCTGGACCTCTCCTGCTGCTGCTGCTGCTGGTGCTGCCACCCCGGGCCCTGCCAGAAGGACCCCTGGTGTTCGTGGCTCTGGTGAGGCGCCCCCACCCCGGCCTGCCCTTAGCTCCCCCAGGGCTAGCCCTGACCAGTCCTGTCCCCAGGTATTCCGCCATGGCGACCGGGCCCCGCTGGCCTCCTACCCCATGGACCCACACAAGGAGGTGGCCTCCACCCTGTGGCCACGAGGCCTGGGCCAGCTGACCACGGTGAGAAGCGGGTAGGCGGTGAGGGCAAGGGTGGGAGGGGTGGGGAGTGGTAGGCTGAGGCTGTTCTGTCCCCAGGAGGGGGTCCGCCAGCAGCTGGAGCTGGGCCGCTTCCTGAGGAGCCGCTACGAGGCCTTCCTGAGTCCGGAGTACCGGCGGGAGGAGGTAGGGCCATAGTGACCCCCACCTGGCCCCCTGACCTCCCACCTGTGACCTCCACTGACTACAACGCTCTCTTTGGGCCTCCACCTCTGGCCTTTGACCTCCATCAACCTGACTTGCCCTCTACCTCTAATCTCTGACCCCCGATACACTGACTAACCCACACTGACTTCTGACCCCATCTCAACCTGTCACATCTCGACCTCTGACCTCCATCAACTCTGACTTTATTTTCTGGCCTCCATCTCTGTTTTCTAAGTCCCATTGACTCCAGTCAGACCTCTGGCCTCTGACATTTGACCCCAAACTTGATTTCGATCTTTGACCCTTGTTGACGTAACTTGCCCTCTTGACCTCTAACCTTTAACCTCTACGCTTTATCAATTCTGACCTACCTTTTCTGTCTCCTCCTATGTCTTCTGACATCCCCCAGCTACAGACAGTCCTCCTAACCTCTGAAGAACATGTATTGAACTCTGACTCCAAGTCCTCCAAGCTGCCCTCCTAAACTTGACCTCTAACCTCCAGCCTCTACTGATTCTGATCTTCCTTTTTGACCCTCATTGACTCAATTGACCCCCTAAATCCAACATGGCTGTCCAGCTTAGGACGTCCAGCCCAACTGCTCCTGACATTAGCCTCTGGACCCTTGATCCCAACTTCCAACTTCGAAGGCCACATGATTCTCAGTGTCTGACCCCTACTCCAAAGTGAATCTGAGGCTTCTGATTTGCCACGACAGCTGACCTCTGTCCCCAACCACGACCCCCCGCGTGCCCTCTCTCCACCCCGCTCCAGGTGTACATCCGCAGCACGGACTTTGACCGCACGCTGGAGAGTGCCCAGGCCAACCTTGCCGGGCTGTTTCCCGAGGCTGCTCCAGGGAGCCCCGAGGCCCGCTGGAGGCCGATCCCGGTGCACATGGTGCCCGTGGCTGAGGATAAGGTCAGGGGGCTGGACCCACGTGTGGCGAGGGAGGGAGCGGGTGGAGAGAGAGGCAGCTCTGGGTCTGGCCGCCTGAGCTGGCTCCGAGAAGCAAGACTGTCCTCGAGCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCACGCTGCTCTCCTGGATCTGGGAGAAACTGCGACAAAGACGCAGGGGCCGAGAGCCCGGGTTCCCCCGACCCGCTGTGAGACCCAAGGCAAGGCACACGGCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCTGCTGAGGTTCCCCATGCGCAGCTGTCCCCGATACCACGAGCTGCTGCGGGAGGCCACCGAGGCCGCCGAGTACCAGGAGGCCCTGGAGGGCTGGACGGTGAGCAGGGCGGCGGTGGGGGGCGGGATGCAGGGGATGGGCCTGGGCTCACCCAGCCCCGCGCATCCAGGGCTTCCTGAGTCGCCTGGAGAACTTCACGGGACTGTCGCTGGTTGGAGAGCCACTGCGCAGGGCATGGAAGGTTCTGGACACCCTCATGTGCCAGGTGAGCCCTGCCCCTTCCCAGCCAAGGGTTTAAGGACACCTGTTTCCAATCCCAGCTTGCTACTCACTAGCTGTGTTCCCTCAGGCATGTAGTTAATCCTCTGTGCCTCAGTTTTCCCATCTGCACAGTGGGGATGGCAACACCGGTATCAACACCTCCCCAGGACGCTGTGAGGATTCAAATGGGTTAATCCACGCACTGTGCTTACAATAGTGCCTGGTGTACAGTGAGGGCCTTGCCAGGGTTTGAGGCTACACATTTGGCAACTCCTCCCCACAGTCCTATAATCAGAAAACCCAAAACCTGGGCAGCGGGAGCTGACCTGAAATGATGCAATGCTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATTATCATAGCTCACTGCAGCCTCCATCTCCCTGGCTATAGGAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGGCAGGCAGGGGCACACCATCATGCCTGGCTAATTAAAAAAAAATTAATTTTTTGCAGAGATGGGGTCTATGTTGCCCAGGAACTCCTGGGCTCAAACAATCCTTTCGCCTCCCCAAGAGCTGGGATTACAGGCGTGAGCCACCATACCCAGCTAGTACTCTTGCTAGTCTTTGCTCACTCCAGCTCACGGGAATGTTCTGAATCGCAGGGTGGGAGCAGTGATGTGTGTGACTAAGGGGGCTGCCCCGGCCCTTGCTGTGTGTGTTCCATGCTGTGTGGTGTCAGCACCATCAGACCTTTCTAAAGTCCAGAATGTCTGAGCTGTGAAATACCTCTGGCCCCAGGGGTTTCAGATAAAGCCTTCTGGGCTGTGTAATGACGATGTCTATTATTAACTAATAATCGCTGTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCACCACTTTGAGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTCAGACCAGTCTGACCAACACGGTAAAACCCCGTCTCTACTAAAAATAAAAAAAAAAAATTAGCCAGGAATGGTGGCACACACTTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATCACCTGAACCCGAGAGGCAAGGGTTGCAGACAGCCAAGATTGCGCTACTGCACTCCAGCCTAGGTGATGGAGCAAGGCTCCGTTTCAAAACAAAAAACAACAACAAAAAAACACTGTTATCCACATCATGATTTCCCAGCCAGATCCAGATCCGGCCCATGGGGGGACTCAGAAGAGCAGGGGGCAGCACAGGCCTGCGGGGCCAGAGGCAAACTCGAGGGCTCAGGATGGTCCATCTGTCCTGTCTCCCCACAGCAAGCCCACGGTCTTCCACTACCAGCCTGGGCCTCCCCAGATGTCCTGCGGACTCTTGCCCAGATCTCGGCTTTGGATATTGGAGCCCACGTGGGCCCACCCCGGGCAGCAGAGAAGGCCCAGCTGACAGGGGGTGAGGTGTGG
Task1_train_27491
Here’s a variant in ACP4 (acid phosphatase 4) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Amelogenesis imperfecta, type 1J
TCCAGGGAGCCCCGAGGCCCGCTGGAGGCCGATCCCGGTGCACACGGTGCCCGTGGCTGAGGATAAGGTCAGGGGGCTGGACCCACGTGTGGCGAGGGAGGGAGCGGGTGGAGAGAGAGGCAGCTCTGGGTCTGGCCGCCTGAGCTGGCTCCGAGAAGCAAGACTGTCCTCGAGCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCACGCTGCTCTCCTGGATCTGGGAGAAACTGCGACAAAGACGCAGGGGCCGAGAGCCCGGGTTCCCCCGACCCGCTGTGAGACCCAAGGCAAGGCACACGGCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCTGCTGAGGTTCCCCATGCGCAGCTGTCCCCGATACCACGAGCTGCTGCGGGAGGCCACCGAGGCCGCCGAGTACCAGGAGGCCCTGGAGGGCTGGACGGTGAGCAGGGCGGCGGTGGGGGGCGGGATGCAGGGGATGGGCCTGGGCTCACCCAGCCCCGCGCATCCAGGGCTTCCTGAGTCGCCTGGAGAACTTCACGGGACTGTCGCTGGTTGGAGAGCCACTGCGCAGGGCATGGAAGGTTCTGGACACCCTCATGTGCCAGGTGAGCCCTGCCCCTTCCCAGCCAAGGGTTTAAGGACACCTGTTTCCAATCCCAGCTTGCTACTCACTAGCTGTGTTCCCTCAGGCATGTAGTTAATCCTCTGTGCCTCAGTTTTCCCATCTGCACAGTGGGGATGGCAACACCGGTATCAACACCTCCCCAGGACGCTGTGAGGATTCAAATGGGTTAATCCACGCACTGTGCTTACAATAGTGCCTGGTGTACAGTGAGGGCCTTGCCAGGGTTTGAGGCTACACATTTGGCAACTCCTCCCCACAGTCCTATAATCAGAAAACCCAAAACCTGGGCAGCGGGAGCTGACCTGAAATGATGCAATGCTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATTATCATAGCTCACTGCAGCCTCCATCTCCCTGGCTATAGGAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGGCAGGCAGGGGCACACCATCATGCCTGGCTAATTAAAAAAAAATTAATTTTTTGCAGAGATGGGGTCTATGTTGCCCAGGAACTCCTGGGCTCAAACAATCCTTTCGCCTCCCCAAGAGCTGGGATTACAGGCGTGAGCCACCATACCCAGCTAGTACTCTTGCTAGTCTTTGCTCACTCCAGCTCACGGGAATGTTCTGAATCGCAGGGTGGGAGCAGTGATGTGTGTGACTAAGGGGGCTGCCCCGGCCCTTGCTGTGTGTGTTCCATGCTGTGTGGTGTCAGCACCATCAGACCTTTCTAAAGTCCAGAATGTCTGAGCTGTGAAATACCTCTGGCCCCAGGGGTTTCAGATAAAGCCTTCTGGGCTGTGTAATGACGATGTCTATTATTAACTAATAATCGCTGTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCACCACTTTGAGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTCAGACCAGTCTGACCAACACGGTAAAACCCCGTCTCTACTAAAAATAAAAAAAAAAAATTAGCCAGGAATGGTGGCACACACTTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATCACCTGAACCCGAGAGGCAAGGGTTGCAGACAGCCAAGATTGCGCTACTGCACTCCAGCCTAGGTGATGGAGCAAGGCTCCGTTTCAAAACAAAAAACAACAACAAAAAAACACTGTTATCCACATCATGATTTCCCAGCCAGATCCAGATCCGGCCCATGGGGGGACTCAGAAGAGCAGGGGGCAGCACAGGCCTGCGGGGCCAGAGGCAAACTCGAGGGCTCAGGATGGTCCATCTGTCCTGTCTCCCCACAGCAAGCCCACGGTCTTCCACTACCAGCCTGGGCCTCCCCAGATGTCCTGCGGACTCTTGCCCAGATCTCGGCTTTGGATATTGGAGCCCACGTGGGCCCACCCCGGGCAGCAGAGAAGGCCCAGCTGACAGGGGGTGAGGTGTGGGTCTGGGAGGCTGGGGTGCCTTCCTCTGGGAGAGTCTAAGCTCTTTTTTCCCATCCTCAGGGATCCTGCTGAATGCTATCCTTGCAAACTTCTCCCGGGTCCAGCGCCTGGGGCTGCCCCTCAAGATGGTCATGTACTCAGCTGTGAGTCCTTGGGAAGCAGTGCCACATGGCACTGAGGCACAGGGATGAGGGTGACAGCGATTTAGGTGAGGAAGAGCCTGTGGTCCCAGTGGATCTCAGCCCACTGCCTGGGGTAACCCGTATCTCCAAACCCTACTCTCAGGCTCTACCATTAGTCTGGAAAGAGGGAGGTGACGGTGTTATGGGAGGAAGAATTTATGAATAAATATAATTCCTTGTTTTCTTTAAGAAACTATGATTGGACTAAGCAGTCTGTCCTTCCGGAGGAGAAAGGCTGCTTAGTCCAATCATATTTTGCACCTACTTGAGCAATCTTTATTAAGTGGCCGCCTGCAAATGTTGGTACTGCCTTCAGGATGGGAGGAAGGAGTAGCTTTGGGGGGTTGGTTCTAAGAAGCCTGGGGGACATCTGGATGCGCAAGTGTAGTGCTCAGGAGAAAGGCCTCCAGAGAGAAGTGCCGTCTCAGCCCTCGGGTCCACCTGCAGCATGACAGCACCCTGCTGGCCCTCCAGGGGGCCCTGGGCCTCTATGATGGACACACCCCGCCATATGCTGCCTGCCTCGGCTTTGAGTTCCGGAAGCACCTGGGGAATCCCGCCAAAGATGGAGGGTGAGAATGGTTTGGTGCCCAGGGACATGGGTGGGACAGAACTCTCAAAGCAAGGGGTGATGTGTCAGGCAGAGGGCATGGCCAGGTGGGGAGCTGCATGGGATGATGCTGGGAGGATGACAGGTGGGAGTCAGAAGCCCTTTTCTCCAGGCTTTAAGATCAATGACAGGAGGGAGGAGGTGCCACCATGTCCTCTCTCTCCAGGAATGTCACCGTCTCCCTCTTCTACCGCAATGACTCCGCCCACCTGCCCCTGCCTCTCAGCCTCCCCGGGTGCCCGGCCCCCTGTCCACTAGGCCGCTTCTACCAGCTGACTGCCCCGGCCCGGCCTCCCGCCCATGGGGTCTCCTGCCATGGCCCCTATGAGGCTGCCATCCCCCCAGGTGACAGTCCTCTGTGTTGGGGTGGGAGTGGAGGGTTGCCAAGTCCTGGCACTCACCCCCCGCGTGTTCTCCCTGCAGCTCCAGTGGTGCCCCTGCTGGCCGGAGCTGTAGCTGTGCTGGTGGCACTCAGCTTGGGGCTGGGCCTGCTGGCCTGGAGACCAGGGTGCCTGCGGGCCTTGGGGGGCCCCGTGTGAGCCAGAAACCAGGGCTTCCCTACCCCCAGCTGACACTGGACCCCAACATGTATGCTCAGTAGCTGCTCTGGCTTCTGTGACTTACTGTGCGCCTGTGTGCATGGGGAGCGAGGGCTGTGTGGAGTCTCCGGCCTGGAAACTAGTTTGTGTGTGCATGTGTCTGTGTGACGGTGGCATGAGTGTGCATGCATACGTGTCACATGTGTGAACAGTTTCTGCACTTAGACGCGTGCACAGGTGGTCTGTACGTACATGCTGGTAAAAAACATGTCTGTGACACACATTCAAGCACAAATGTACCCATGTCTGAACAAGCAGGCATGCCTGCATGGCACTTTTCTTGTAGAGACAAGGTCTTTGTGGCCCAGGCTGGAGTACTGGCATGAGCATAGCTCACTGCAGCTTTGAACTCCTGTCTCAAGTGACCCTCCTGTTTCAGCTTCTACAGGCGTGCACAATGCCTGGTTAATTTTGTTTTCTTGGTATGTTGGCCAGGTTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCTGCCATGGCCTCCCAAAGCACTGGGATTACAGGTGTGAGCCACCACACCCAGGTGGTATGTTTATGCACCTTTCCATATGAGCACTGGAAGCAGGTAGGCTGGCTGAGGACATGGTGGACCCTGTACGTACCTCCACTTGCAG
TCCAGGGAGCCCCGAGGCCCGCTGGAGGCCGATCCCGGTGCACACGGTGCCCGTGGCTGAGGATAAGGTCAGGGGGCTGGACCCACGTGTGGCGAGGGAGGGAGCGGGTGGAGAGAGAGGCAGCTCTGGGTCTGGCCGCCTGAGCTGGCTCCGAGAAGCAAGACTGTCCTCGAGCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCACGCTGCTCTCCTGGATCTGGGAGAAACTGCGACAAAGACGCAGGGGCCGAGAGCCCGGGTTCCCCCGACCCGCTGTGAGACCCAAGGCAAGGCACACGGCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCTGCTGAGGTTCCCCATGCGCAGCTGTCCCCGATACCACGAGCTGCTGCGGGAGGCCACCGAGGCCGCCGAGTACCAGGAGGCCCTGGAGGGCTGGACGGTGAGCAGGGCGGCGGTGGGGGGCGGGATGCAGGGGATGGGCCTGGGCTCACCCAGCCCCGCGCATCCAGGGCTTCCTGAGTCGCCTGGAGAACTTCACGGGACTGTCGCTGGTTGGAGAGCCACTGCGCAGGGCATGGAAGGTTCTGGACACCCTCATGTGCCAGGTGAGCCCTGCCCCTTCCCAGCCAAGGGTTTAAGGACACCTGTTTCCAATCCCAGCTTGCTACTCACTAGCTGTGTTCCCTCAGGCATGTAGTTAATCCTCTGTGCCTCAGTTTTCCCATCTGCACAGTGGGGATGGCAACACCGGTATCAACACCTCCCCAGGACGCTGTGAGGATTCAAATGGGTTAATCCACGCACTGTGCTTACAATAGTGCCTGGTGTACAGTGAGGGCCTTGCCAGGGTTTGAGGCTACACATTTGGCAACTCCTCCCCACAGTCCTATAATCAGAAAACCCAAAACCTGGGCAGCGGGAGCTGACCTGAAATGATGCAATGCTTTTTTTTTTTTTTTTTTTTTTGGAGACAGGATCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATTATCATAGCTCACTGCAGCCTCCATCTCCCTGGCTATAGGAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGGCAGGCAGGGGCACACCATCATGCCTGGCTAATTAAAAAAAAATTAATTTTTTGCAGAGATGGGGTCTATGTTGCCCAGGAACTCCTGGGCTCAAACAATCCTTTCGCCTCCCCAAGAGCTGGGATTACAGGCGTGAGCCACCATACCCAGCTAGTACTCTTGCTAGTCTTTGCTCACTCCAGCTCACGGGAATGTTCTGAATCGCAGGGTGGGAGCAGTGATGTGTGTGACTAAGGGGGCTGCCCCGGCCCTTGCTGTGTGTGTTCCATGCTGTGTGGTGTCAGCACCATCAGACCTTTCTAAAGTCCAGAATGTCTGAGCTGTGAAATACCTCTGGCCCCAGGGGTTTCAGATAAAGCCTTCTGGGCTGTGTAATGACGATGTCTATTATTAACTAATAATCGCTGTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCACCACTTTGAGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTCAGACCAGTCTGACCAACACGGTAAAACCCCGTCTCTACTAAAAATAAAAAAAAAAAATTAGCCAGGAATGGTGGCACACACTTGTAATCACAGCTACTTGGGAGGCTGAGGCAGGAGAATCACCTGAACCCGAGAGGCAAGGGTTGCAGACAGCCAAGATTGCGCTACTGCACTCCAGCCTAGGTGATGGAGCAAGGCTCCGTTTCAAAACAAAAAACAACAACAAAAAAACACTGTTATCCACATCATGATTTCCCAGCCAGATCCAGATCCGGCCCATGGGGGGACTCAGAAGAGCAGGGGGCAGCACAGGCCTGCGGGGCCAGAGGCAAACTCGAGGGCTCAGGATGGTCCATCTGTCCTGTCTCCCCACAGCAAGCCCACGGTCTTCCACTACCAGCCTGGGCCTCCCCAGATGTCCTGCGGACTCTTGCCCAGATCTCGGCTTTGGATATTGGAGCCCACGTGGGCCCACTCCGGGCAGCAGAGAAGGCCCAGCTGACAGGGGGTGAGGTGTGGGTCTGGGAGGCTGGGGTGCCTTCCTCTGGGAGAGTCTAAGCTCTTTTTTCCCATCCTCAGGGATCCTGCTGAATGCTATCCTTGCAAACTTCTCCCGGGTCCAGCGCCTGGGGCTGCCCCTCAAGATGGTCATGTACTCAGCTGTGAGTCCTTGGGAAGCAGTGCCACATGGCACTGAGGCACAGGGATGAGGGTGACAGCGATTTAGGTGAGGAAGAGCCTGTGGTCCCAGTGGATCTCAGCCCACTGCCTGGGGTAACCCGTATCTCCAAACCCTACTCTCAGGCTCTACCATTAGTCTGGAAAGAGGGAGGTGACGGTGTTATGGGAGGAAGAATTTATGAATAAATATAATTCCTTGTTTTCTTTAAGAAACTATGATTGGACTAAGCAGTCTGTCCTTCCGGAGGAGAAAGGCTGCTTAGTCCAATCATATTTTGCACCTACTTGAGCAATCTTTATTAAGTGGCCGCCTGCAAATGTTGGTACTGCCTTCAGGATGGGAGGAAGGAGTAGCTTTGGGGGGTTGGTTCTAAGAAGCCTGGGGGACATCTGGATGCGCAAGTGTAGTGCTCAGGAGAAAGGCCTCCAGAGAGAAGTGCCGTCTCAGCCCTCGGGTCCACCTGCAGCATGACAGCACCCTGCTGGCCCTCCAGGGGGCCCTGGGCCTCTATGATGGACACACCCCGCCATATGCTGCCTGCCTCGGCTTTGAGTTCCGGAAGCACCTGGGGAATCCCGCCAAAGATGGAGGGTGAGAATGGTTTGGTGCCCAGGGACATGGGTGGGACAGAACTCTCAAAGCAAGGGGTGATGTGTCAGGCAGAGGGCATGGCCAGGTGGGGAGCTGCATGGGATGATGCTGGGAGGATGACAGGTGGGAGTCAGAAGCCCTTTTCTCCAGGCTTTAAGATCAATGACAGGAGGGAGGAGGTGCCACCATGTCCTCTCTCTCCAGGAATGTCACCGTCTCCCTCTTCTACCGCAATGACTCCGCCCACCTGCCCCTGCCTCTCAGCCTCCCCGGGTGCCCGGCCCCCTGTCCACTAGGCCGCTTCTACCAGCTGACTGCCCCGGCCCGGCCTCCCGCCCATGGGGTCTCCTGCCATGGCCCCTATGAGGCTGCCATCCCCCCAGGTGACAGTCCTCTGTGTTGGGGTGGGAGTGGAGGGTTGCCAAGTCCTGGCACTCACCCCCCGCGTGTTCTCCCTGCAGCTCCAGTGGTGCCCCTGCTGGCCGGAGCTGTAGCTGTGCTGGTGGCACTCAGCTTGGGGCTGGGCCTGCTGGCCTGGAGACCAGGGTGCCTGCGGGCCTTGGGGGGCCCCGTGTGAGCCAGAAACCAGGGCTTCCCTACCCCCAGCTGACACTGGACCCCAACATGTATGCTCAGTAGCTGCTCTGGCTTCTGTGACTTACTGTGCGCCTGTGTGCATGGGGAGCGAGGGCTGTGTGGAGTCTCCGGCCTGGAAACTAGTTTGTGTGTGCATGTGTCTGTGTGACGGTGGCATGAGTGTGCATGCATACGTGTCACATGTGTGAACAGTTTCTGCACTTAGACGCGTGCACAGGTGGTCTGTACGTACATGCTGGTAAAAAACATGTCTGTGACACACATTCAAGCACAAATGTACCCATGTCTGAACAAGCAGGCATGCCTGCATGGCACTTTTCTTGTAGAGACAAGGTCTTTGTGGCCCAGGCTGGAGTACTGGCATGAGCATAGCTCACTGCAGCTTTGAACTCCTGTCTCAAGTGACCCTCCTGTTTCAGCTTCTACAGGCGTGCACAATGCCTGGTTAATTTTGTTTTCTTGGTATGTTGGCCAGGTTGGTCTCAAATTCCTGGCCTCAAGCAATCCTCCTGCCATGGCCTCCCAAAGCACTGGGATTACAGGTGTGAGCCACCACACCCAGGTGGTATGTTTATGCACCTTTCCATATGAGCACTGGAAGCAGGTAGGCTGGCTGAGGACATGGTGGACCCTGTACGTACCTCCACTTGCAG
Task1_train_27492
This alteration occurs within gene KLK2 (kallikrein related peptidase 2) located on Chromosome 19. Is it associated with a disease or is it a benign variant?
Pathogenic; Acute myeloid leukemia
AATAGCCAGGTCTGGCTGGGTCGGCACAACCTGTTTGAGCCTGAAGACACAGGCCAGAGGGTCCCTGTCAGCCACAGCTTCCCACACCCGCTCTACAATATGAGCCTTCTGAAGCATCAAAGCCTTAGACCAGATGAAGACTCCAGCCATGACCTCATGCTGCTCCGCCTGTCAGAGCCTGCCAAGATCACAGATGTTGTGAAGGTCCTGGGCCTGCCCACCCAGGAGCCAGCACTGGGGACCACCTGCTACGCCTCAGGCTGGGGCAGCATCGAACCAGAGGAGTGTACGCCTGGGCCAGATGGTGTAGCTGGGAGCCCAGATGCCTGGGTCTGAGGGAAGTGGGGCCAAAGAACCAGGTGGGGTCCGGCCACAGCCCAGTTTTTCTCTGACCCATAGTCTTGCGCCCCAGGAGTCTTCAGTGTGTGAGCCTCCATCTCCTGTCCAATGACATGTGTGCTAGAGCTTACTCTGAGAAGGTGACAGAGTTCATGTTGTGTGCTGGGCTCTGGACAGGTGGTAAAGACACTTGTGGGGTGAGTCATCCCTACTCCCAACATCTGGAGGGGAAAGGTGAGTGAAGACCCTAATTCTGGGCTGCAATCTGAAAGCTAACCAGACATCTGCCTCCCCTGCTCCCCAGCTATAGCCACGCCCCCTCCCCATGCCTCATCTGCCGCCCTCCTTCCCCCTTCCCTGACTCCCTCAACACAAGAGGTGATTCTCACAGCATAATTCACCCATTCCTGTGTTGAGCACATGCTTACTGGGCACCTGCTACGTGACCAGCATTGCCGTAGACCCTGGGAAGCAGCAGTGAACAGGTAGAGAGCAGCCTCTCCCTCCTGCAGCCCCCATGCTGGTGAGGGGCACTGGCAGGAACAGTGGACCCAACATGGAAATGCTGGAGGGTGTCAGGAAGTGATCGGGCTCTGGGGCAGGGAGGAGGGGTGGGGAGTGTCACTGGGAGGGGACATCCTGCAGAAGGTAGGAGTGAGCAAACACCCGCTGCAGGGGAGGGGAGAGCCCTGCGGCACCTGGGGGAGCAGAGGGAGCAGCACCTGCCCAGGCCTGGGAGGAGGGGCCGGGAGGGCGTGAGGAGGAGCGAGGGGGCTGCATGGCTGGAGTGAGGGATCAGGGGCAGGGCGCGAGATGGCCTCACACAGGGAAGAGAGGGCCCCTCCTGCAGGGCCTCACCTGGGCCACAGGAGGACACTGCTTTTCCTCTGAGGAGTCAGGAGCTGTGGATGGTGCTGGACAGAAGAAGGACAGGGCCTGGCTCAGGTGTCCAGAGGCTGTCGCTGGCTTCCCTTTGGGATCAGACTGCAGGGAGGGAGGGCGGCAGGGTTGTGGGGGGAGTGACGATGAGGATGACCTGGGGGTGGCTCCAGGCCTTGCCCCTGCCTGGGCCCTCACCCAGCCTCCCTCACAGTCTCCTGGCCCTCAGTCTCTCCCCTCCACTCCATCCTCCATCTGGCCTCAGTGGGTCATTCTGATCACTGAACTGACCATACCCAGCCCTGCCCACGGCCCTCCATGGCTCCCCAATGCCCTGGAGAGGGGACATCTAGTCAGAGAGTAGTCCTGAAGAGGTGGCCTCTGCGATGTGCCTGTGGGGGCAGCATCCTGCAGATGGTCCCGGCCCTCATCCTGCTGACCTGTCTGCAGGGACTGTCCTCCTGGACCTTGCCCCTTGTGCAGGAGCTGGACCCTGAAGTCCCCTCCCCATAGGCCAAGACTGGAGCCTTGTTCCCTCTGTTGGACTCCCTGCCCATATTCTTGTGGGAGTGGGTTCTGGAGACATTTCTGTCTGTTCCTGAGAGCTGGGAATTGCTCTCAGTCATCTGCCTGCGCGGTTCTGAGAGATGGAGTTGCCTAGGCAGTTATTGGGGCCAATCTTTCTCACTGTGTCTCTCCTCCTTTACCCTTAGGGTGATTCTGGGGGTCCACTTGTCTGTAATGGTGTGCTTCAAGGTATCACATCATGGGGCCCTGAGCCATGTGCCCTGCCTGAAAAGCCTGCTGTGTACACCAAGGTGGTGCATTACCGGAAGTGGATCAAGGACACCATCGCAGCCAACCCCTGAGTGCCCCTGTCCCACCCCTACCTCTAGTAAATTTAAGTCCACCTCACGTTCTGGCATCACTTGGCCTTTCTGGATGCTGGACACCTGAAGCTTGGAACTCACCTGGCCGAAGCTCGAGCCTCCTGAGTCCTACTGACCTGTGCTTTCTGGTGTGGAGTCCAGGGCTGCTAGGAAAAGGAATGGGCAGACACAGGTGTATGCCAATGTTTCTGAAATGGGTATAATTTCGTCCTCTCCTTCGGAACACTGGCTGTCTCTGAAGACTTCTCGCTCAGTTTCAGTGAGGACACACACAAAGACGTGGGTGACCATGTTGTTTGTGGGGTGCAGAGATGGGAGGGGTGGGGCCCACCCTGGAAGAGTGGACAGTGACACAAGGTGGACACTCTCTACAGATCACTGAGGATAAGCTGGAGCCACAATGCATGAGGCACACACACAGCAAGGATGACGCTGTAAACATAGCCCACGCTGTCCTGGGGGCACTGGGAAGCCTAGATAAGGCCGTGAGCAGAAAGAAGGGGAGGATCCTCCTATGTTGTTGAAGGAGGGACTAGGGGGAGAAACTGAAAGCTGATTAATTACAGGAGGTTTGTTCAGGTCCCCCAAACCACCGTCAGATTTGATGATTTCCTAGCAGGACTTACAGAAATAAAGAGCTATCATGCTGTGGTTTATTATGGTTTGTTACATTGATAGGATACATACTGAAATCAGCAAACAAAACAGATGTATAGATTAGAGTGTGGAGAAAACAGAGGAAAACTTGCAGTTACGAAGACTGGCAACTTGGCTTTACTAAGTTTTCAGACTGGCAGGAAGTCAAACCTATTAGGCTGAGGACCTTGTGGAGTGTAGCTGATCCAGCTGATAGAGGAACTAGCCAGGTGGGGGCCTTTCCCTTTGGATGGGGGGCATATCTGACAGTTATTCTCTCCAAGTGGAGACTTACGGACAGCATATAATTCTCCCTGCAAGGATGTATGATAATATGTACAAAGTAATTCCAACTGAGGAAGCTCACCTGATCCTTAGTGTCCAGGGTTTTTACTGGGGGTCTGTAGGACGAGTATGGAGTACTTGAATAATTGACCTGAAGTCCTCAGACCTGAGGTTCCCTAGAGTTCAAACAGATACAGCATGGTCCAGAGTCCCAGATGTACAAAAACAGGGATTCATCACAAATCCCATCTTTAGCATGAAGGGTCTGGCATGGCCCAAGGCCCCAAGTATATCAAGGCACTTGGGCAGAACATGCCAAGGAATCAAATGTCATCTCCCAGGAGTTATTCAAGGGTGAGCCCTTTACTTGGGATGTACAGGCTTTGAGCAGTGCAGGGCTGCTGAGTCAACCTTTTATTGTACAGGGGATGAGGGAAAGGGAGAGGATGAGGAAGCCCCCCTGGGGATTTGGTTTGGTCTTGTGATCAGGTGGTCTATGGGGCTATCCCTACAAAGAAGAATCCAGAAATAGGGGCACATTGAGGAATGATACTGAGCCCAAAGAGCATTCAATCATTGTTTTATTTGCCTTCTTTTCACACCATTGGTGAGGGAGGGATTACCACCCTGGGGTTATGAAGATGGTTGAACACCCCACACATAGCACCGGAGATATGAGATCAACAGTTTCTTAGCCATAGAGATTCACAGCCCAGAGCAGGAGGACGCTGCACACCATGCAGGATGACATGGGGGATGCGCTCGGGATTGGTGTGAAGAAGCAAGGACTGTTAGAGGCAGGCTTTATAGTAACAAGACGGTGGGGCAAACTCTGATTTCCGTGGGGGAATGTCATGGTCTTGCTTTACTAAGTTTTGAGACTGGCAGGTAGTGAAACTCATTAGGCTGAGAACCTTGTGGAATGCAGCTGACCCAGCTGATAGAGGAAGTAGCCAGGTGGGAGCCTTTCCCAGTGGGTGTGGGACATATCTGGCAAGATTTTGTGGCACTCCTGGTTACAGATACTGGGGCAGCAAATAAAACTGAATCTTGTTTTCAGACCTTAT
AATAGCCAGGTCTGGCTGGGTCGGCACAACCTGTTTGAGCCTGAAGACACAGGCCAGAGGGTCCCTGTCAGCCACAGCTTCCCACACCCGCTCTACAATATGAGCCTTCTGAAGCATCAAAGCCTTAGACCAGATGAAGACTCCAGCCATGACCTCATGCTGCTCCGCCTGTCAGAGCCTGCCAAGATCACAGATGTTGTGAAGGTCCTGGGCCTGCCCACCCAGGAGCCAGCACTGGGGACCACCTGCTACGCCTCAGGCTGGGGCAGCATCGAACCAGAGGAGTGTACGCCTGGGCCAGATGGTGTAGCTGGGAGCCCAGATGCCTGGGTCTGAGGGAAGTGGGGCCAAAGAACCAGGTGGGGTCCGGCCACAGCCCAGTTTTTCTCTGACCCATAGTCTTGCGCCCCAGGAGTCTTCAGTGTGTGAGCCTCCATCTCCTGTCCAATGACATGTGTGCTAGAGCTTACTCTGAGAAGGTGACAGAGTTCATGTTGTGTGCTGGGCTCTGGACAGGTGGTAAAGACACTTGTGGGGTGAGTCATCCCTACTCCCAACATCTGGAGGGGAAAGGTGAGTGAAGACCCTAATTCTGGGCTGCAATCTGAAAGCTAACCAGACATCTGCCTCCCCTGCTCCCCAGCTATAGCCACGCCCCCTCCCCATGCCTCATCTGCCGCCCTCCTTCCCCCTTCCCTGACTCCCTCAACACAAGAGGTGATTCTCACAGCATAATTCACCCATTCCTGTGTTGAGCACATGCTTACTGGGCACCTGCTACGTGACCAGCATTGCCGTAGACCCTGGGAAGCAGCAGTGAACAGGTAGAGAGCAGCCTCTCCCTCCTGCAGCCCCCATGCTGGTGAGGGGCACTGGCAGGAACAGTGGACCCAACATGGAAATGCTGGAGGGTGTCAGGAAGTGATCGGGCTCTGGGGCAGGGAGGAGGGGTGGGGAGTGTCACTGGGAGGGGACATCCTGCAGAAGGTAGGAGTGAGCAAACACCCGCTGCAGGGGAGGGGAGAGCCCTGCGGCACCTGGGGGAGCAGAGGGAGCAGCACCTGCCCAGGCCTGGGAGGAGGGGCCGGGAGGGCGTGAGGAGGAGCGAGGGGGCTGCATGGCTGGAGTGAGGGATCAGGGGCAGGGCGCGAGATGGCCTCACACAGGGAAGAGAGGGCCCCTCCTGCAGGGCCTCACCTGGGCCACAGGAGGACACTGCTTTTCCTCTGAGGAGTCAGGAGCTGTGGATGGTGCTGGACAGAAGAAGGACAGGGCCTGGCTCAGGTGTCCAGAGGCTGTCGCTGGCTTCCCTTTGGGATCAGACTGCAGGGAGGGAGGGCGGCAGGGTTGTGGGGGGAGTGACGATGAGGATGACCTGGGGGTGGCTCCAGGCCTTGCCCCTGCCTGGGCCCTCACCCAGCCTCCCTCACAGTCTCCTGGCCCTCAGTCTCTCCCCTCCACTCCATCCTCCATCTGGCCTCAGTGGGTCATTCTGATCACTGAACTGACCATACCCAGCCCTGCCCACGGCCCTCCATGGCTCCCCAATGCCCTGGAGAGGGGACATCTAGTCAGAGAGTAGTCCTGAAGAGGTGGCCTCTGCGATGTGCCTGTGGGGGCAGCATCCTGCAGATGGTCCCGGCCCTCATCCTGCTGACCTGTCTGCAGGGACTGTCCTCCTGGACCTTGCCCCTTGTGCAGGAGCTGGACCCTGAAGTCCCCTCCCCATAGGCCAAGACTGGAGCCTTGTTCCCTCTGTTGGACTCCCTGCCCATATTCTTGTGGGAGTGGGTTCTGGAGACATTTCTGTCTGTTCCTGAGAGCTGGGAATTGCTCTCAGTCATCTGCCTGCGCGGTTCTGAGAGATGGAGTTGCCTAGGCAGTTATTGGGGCCAATCTTTCTCACTGTGTCTCTCCTCCTTTACCCTTAGGGTGATTCTGGGGGTCCACTTGTCTGTAATGGTGTGCTTCAAGGTATCACATCATGGGGCCCTGAGCCATGTGCCCTGCCTGAAAAGCCTGCTGTGTACACCAAGGTGGTGCATTACTGGAAGTGGATCAAGGACACCATCGCAGCCAACCCCTGAGTGCCCCTGTCCCACCCCTACCTCTAGTAAATTTAAGTCCACCTCACGTTCTGGCATCACTTGGCCTTTCTGGATGCTGGACACCTGAAGCTTGGAACTCACCTGGCCGAAGCTCGAGCCTCCTGAGTCCTACTGACCTGTGCTTTCTGGTGTGGAGTCCAGGGCTGCTAGGAAAAGGAATGGGCAGACACAGGTGTATGCCAATGTTTCTGAAATGGGTATAATTTCGTCCTCTCCTTCGGAACACTGGCTGTCTCTGAAGACTTCTCGCTCAGTTTCAGTGAGGACACACACAAAGACGTGGGTGACCATGTTGTTTGTGGGGTGCAGAGATGGGAGGGGTGGGGCCCACCCTGGAAGAGTGGACAGTGACACAAGGTGGACACTCTCTACAGATCACTGAGGATAAGCTGGAGCCACAATGCATGAGGCACACACACAGCAAGGATGACGCTGTAAACATAGCCCACGCTGTCCTGGGGGCACTGGGAAGCCTAGATAAGGCCGTGAGCAGAAAGAAGGGGAGGATCCTCCTATGTTGTTGAAGGAGGGACTAGGGGGAGAAACTGAAAGCTGATTAATTACAGGAGGTTTGTTCAGGTCCCCCAAACCACCGTCAGATTTGATGATTTCCTAGCAGGACTTACAGAAATAAAGAGCTATCATGCTGTGGTTTATTATGGTTTGTTACATTGATAGGATACATACTGAAATCAGCAAACAAAACAGATGTATAGATTAGAGTGTGGAGAAAACAGAGGAAAACTTGCAGTTACGAAGACTGGCAACTTGGCTTTACTAAGTTTTCAGACTGGCAGGAAGTCAAACCTATTAGGCTGAGGACCTTGTGGAGTGTAGCTGATCCAGCTGATAGAGGAACTAGCCAGGTGGGGGCCTTTCCCTTTGGATGGGGGGCATATCTGACAGTTATTCTCTCCAAGTGGAGACTTACGGACAGCATATAATTCTCCCTGCAAGGATGTATGATAATATGTACAAAGTAATTCCAACTGAGGAAGCTCACCTGATCCTTAGTGTCCAGGGTTTTTACTGGGGGTCTGTAGGACGAGTATGGAGTACTTGAATAATTGACCTGAAGTCCTCAGACCTGAGGTTCCCTAGAGTTCAAACAGATACAGCATGGTCCAGAGTCCCAGATGTACAAAAACAGGGATTCATCACAAATCCCATCTTTAGCATGAAGGGTCTGGCATGGCCCAAGGCCCCAAGTATATCAAGGCACTTGGGCAGAACATGCCAAGGAATCAAATGTCATCTCCCAGGAGTTATTCAAGGGTGAGCCCTTTACTTGGGATGTACAGGCTTTGAGCAGTGCAGGGCTGCTGAGTCAACCTTTTATTGTACAGGGGATGAGGGAAAGGGAGAGGATGAGGAAGCCCCCCTGGGGATTTGGTTTGGTCTTGTGATCAGGTGGTCTATGGGGCTATCCCTACAAAGAAGAATCCAGAAATAGGGGCACATTGAGGAATGATACTGAGCCCAAAGAGCATTCAATCATTGTTTTATTTGCCTTCTTTTCACACCATTGGTGAGGGAGGGATTACCACCCTGGGGTTATGAAGATGGTTGAACACCCCACACATAGCACCGGAGATATGAGATCAACAGTTTCTTAGCCATAGAGATTCACAGCCCAGAGCAGGAGGACGCTGCACACCATGCAGGATGACATGGGGGATGCGCTCGGGATTGGTGTGAAGAAGCAAGGACTGTTAGAGGCAGGCTTTATAGTAACAAGACGGTGGGGCAAACTCTGATTTCCGTGGGGGAATGTCATGGTCTTGCTTTACTAAGTTTTGAGACTGGCAGGTAGTGAAACTCATTAGGCTGAGAACCTTGTGGAATGCAGCTGACCCAGCTGATAGAGGAAGTAGCCAGGTGGGAGCCTTTCCCAGTGGGTGTGGGACATATCTGGCAAGATTTTGTGGCACTCCTGGTTACAGATACTGGGGCAGCAAATAAAACTGAATCTTGTTTTCAGACCTTAT
Task1_train_27493
The gene KLK4 (kallikrein related peptidase 4) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Amelogenesis imperfecta
GATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGATTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACTATGCCTGGCTAATTTTGGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGCCCACCTTGTCCTCCCAAAGTGCTGGGATTACAGGTGAGCCACCGCACCTGACCCCAATCTGTTTCTATACCTATTCCCCTCTCCCATCCCAGCAACCAGGCCACATTGAATAATTTTGCCTGTTCTAGAATTTCATATAAATATAATCATATAGTGTATCATATTTTGTGTCTGGCTTCTTTCACTCAGAATAATGATTTTGAGATGCATGTATGTTGTTGCTTATATCAATAGTTTATTTCTTTCTGGTGCAGAGTAGCAATCCATTGTATGGATATATCACAGTTCGCTTATCCACTCACTTACTGATAGACATTTGCTGCATTTCCAATTTCATTATTATGCATGAAGCTACTATAAACATTCTTAGGGAAGTGTTTTCTATGGCTATTACCTAAATACCTAGGAGTAGAATTGCTAGCCGTCATGTGGATGTATGCCTGTCTTTCTAAGAATCTGCCAAGCTGTTTTCCAAAATGGTTGTAGCATTTTACCCCCTACCCCCAGCAATGTAGGAGAGTTACAGCTGCTGTAGATATAACCAAGACTTGATGCTGTTATTCTTTTCAATTTTAGCCATTCTGGTAGCTGTATGTCTTTTGAAATGATTCTATATTTTTCAGATACTGGGTGCAACATTCCATATATGACCATTAAATAGAGTATGTTAATCATACTGTTCAAATTATCTATATACTTATTCAGTCTCCCATCTCCTTGCCCCTCAGTTGCCCCATTGTGCCCCTCAAACTTCCCTCTTTCTACTCCTTGGTCTCTGTTGCTGTCACTCACAGTAGCCCTCGCCACAATTCTCCCCACTAGACTCTAGCTGCAGCAGCCAACTTCTGAGACACATGCAAATTAAAAATTCTTGAAATGCAGTTAAGAAGACAAAAATGAATATAGATCAACTAAAGCTGAATAGTTAAACTAAGCAAGAAAATCTCTACGGTTACCATTTGCTGACCTGACTTTTCAGAAACTGGACAACATCCATGGCACTGGTTTCTCTTAACTATCCAGGGAATGGCCCCTCCCTCTGAAACTCTGTGGCCCTCCTGGTCAAAGCTCGCATTTCCCAGATAGGGAAATGCGACCCATGGAGGGAAAGCCATTTGCTGGAATCTCTTGAATGGAAGGGGAAGCAAGGAGGACACTACAAACAGAACCTGCGCTTCTCTTAGACTTTATTTCTGGATCTAGGGGAAAGGGACAAAAAATGAAAAACCAACTGGTAAGGTTGGGTCAACGTGCCACAAGGGGGCACTGTGTACAGGGAGAGTCTAGGTGGCATTGGACCGCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACCTCTGGGTCTGGGGAAGGAGGGGTTGGGGGCCTGGACCTCTGAGTCTGAGGGAGGAGGGGTTGGGGGCCTGGACCCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGATCTGTACCCTTGGTTTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGCCTGAGGGAGGAGGGGCTGGGAACAGATATTCCTGAATTCCTTCCGCAGGATGTATTTGGGGGTCAATTTCATGGGTTCCCAGTCCCCAGAGTTAACTGGCCTGGACGGTTTTCTCTATCCACTCAGTGAATTTGCAGAGGTTGGTGTAGACACCTGGCACGCCAACTTGGCCACACGGGGCTTTTCCGAAAGACACAAGGCCCTGCAAGTACCCGTTGCAGATCAGGGGCCCCCCAGAGTCACCCTGTTGTGAAGAGAGGGAGAGTCAGAATTCAAAACACAGAGAGGTGGAAATGGATGTGGGCTCAGAAAGGAACTAAATGAGACTGAGAAACAAAGACAGAACCATCATCAATAACAACATAGCCCAGCAACATATCTGTTGGAAGTCCCATTCCAGATCCCTGACTTCATCTAATCCTGCTTCCCGATGTCCTATGTCCTGAATGCTGGCTGCTTCTCTTGGGCTTGTGGTCTGTCTGTTTCTGTTTGTCTGTCTCTCCTTTGTCTCCTTTGTGGCTTGTTTATCTGTCTCAGTGTCTCTGCATCTCTTTGTAAAGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTTGCCCCAGCTGGAGTATAGTGGTGTGATCTCAACTCACTTCAACCTCTGCCTCCCATATTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCATATCCAGCTAACTTTTGTATTTTTAGTACAGACAGGATTTCACCATTTTGGCCAGGCTGGTCTTGAACTCCTTACCTCAAGTGATCTGCCTGCCTCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCCTGCCCAGCCTCTTTGTAGAGTCTTGATTTTTCCTGTTTCTCTTCGTGTTTCACCTCTATGAATCTGTGTCACTGTTTCCCTCTGGGTACACAGTTGACCCTTGAACAACCCTGGTTTGAACTGCACAAGTCCACTTATACTTGGATTTTTTCAATAAACACATTAGAAAAATTTTAGGAGAGTTGCAACAATTTAAAAAAATTCACAGACGAACTGTGTAGCTTAGAAATATCAAAAAATTCCAACAAAGGTATATCATGAATGCATAAAACGTATGCATAAATCGACTATTTATGTTATTGGTAAGGCTCCCCGTCAACAGTAGGCTATTTCTAGTCAGGTTTTTGGGGAGTCAAAAGTTATAAGAGGATTTTCTGTTGGGTGGAGGTCACCGCCCTCAGGCCCCATGCTGTTGGAAGGTCAACTGCATTTCTATGTGTGTGTGTTTCTGCCTCCCCATGTCTGTTTCTGTTTCTCTCTTCCTTTGCTTCTCTTTATTCCTGTGTTTATTTCTCTGTTTCTCTCAGTTTCTCTCTCTAGTTGTCACTGTCTCCCTGTGTGTCTCTCCATCTCTGCATCTCGCCATGCGGCCCTGTGTGTCTCTGTCTCCCCCTTCTCCACCCTTCCCTGAGTCGCCTGCCCTCCCCTTTCCCCTCTCTCACGTTGCAGGAGTCCTTCTGGTCTTGCCCTCCGCCGGCGCAGAACATGCTGGGGTGGTACAGCGGGTCATAGAGCTTACTGCAGACCTCCTCAGACACCACCGACACGTTCACGCACTGCAGCACGGTAGGCATTCTGCCTGGGACGCAGAGCTCTGGGTCAGCCCCCGCGACTGGGCAGAGGACCTCCTTGAAGAGGGCAGACACACACCCGTGAGCTCACCGTTCGCCAGCAGACCCCAGCCAGAAACGAGGCAAGAGTTCCCCGCGGTAGGGCACTGCGAAGCAATGCTGATGCTCCGGATGGTGTCAGACTCGGACACGGATTCGTCCAACTTGATGAGCATGAGGTCGTTAGCGAGCAAGGGTCTGTTGTACTCTGGGTGCCGTACGGAGAGGCTGGCCTCCACCATCTGGCTCCCTGGCTCTTGGTCGGCCTCAAGACTGTGCAGGCCCAGCCCGATGGTGTAGGAGCTGTGGGCCACGGAGGGCAGGTCAGTTTTGTGGCAACTACATCCTTACCTCCATTCTCATCTTCAACCCCATTCCCATCCCCATCTCCTAACCCCAACCCCACCCTCTTCGCTAAACACCCTAAGAGCTACTTAACCATGGTCTCAAATCCTCATTCACAAAAATTCAGGGACAAGAACTTGCCTTAGTTCACTAGAGACTCAGCACTGGGCTGAGATTTCAAGTCAGGACTCTCTGAGTCCTTCCGAAGCAAGATTCCCGCCTCCCAGCCCTTCCCTCT
GATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGATTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACTATGCCTGGCTAATTTTGGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGCCCACCTTGTCCTCCCAAAGTGCTGGGATTACAGGTGAGCCACCGCACCTGACCCCAATCTGTTTCTATACCTATTCCCCTCTCCCATCCCAGCAACCAGGCCACATTGAATAATTTTGCCTGTTCTAGAATTTCATATAAATATAATCATATAGTGTATCATATTTTGTGTCTGGCTTCTTTCACTCAGAATAATGATTTTGAGATGCATGTATGTTGTTGCTTATATCAATAGTTTATTTCTTTCTGGTGCAGAGTAGCAATCCATTGTATGGATATATCACAGTTCGCTTATCCACTCACTTACTGATAGACATTTGCTGCATTTCCAATTTCATTATTATGCATGAAGCTACTATAAACATTCTTAGGGAAGTGTTTTCTATGGCTATTACCTAAATACCTAGGAGTAGAATTGCTAGCCGTCATGTGGATGTATGCCTGTCTTTCTAAGAATCTGCCAAGCTGTTTTCCAAAATGGTTGTAGCATTTTACCCCCTACCCCCAGCAATGTAGGAGAGTTACAGCTGCTGTAGATATAACCAAGACTTGATGCTGTTATTCTTTTCAATTTTAGCCATTCTGGTAGCTGTATGTCTTTTGAAATGATTCTATATTTTTCAGATACTGGGTGCAACATTCCATATATGACCATTAAATAGAGTATGTTAATCATACTGTTCAAATTATCTATATACTTATTCAGTCTCCCATCTCCTTGCCCCTCAGTTGCCCCATTGTGCCCCTCAAACTTCCCTCTTTCTACTCCTTGGTCTCTGTTGCTGTCACTCACAGTAGCCCTCGCCACAATTCTCCCCACTAGACTCTAGCTGCAGCAGCCAACTTCTGAGACACATGCAAATTAAAAATTCTTGAAATGCAGTTAAGAAGACAAAAATGAATATAGATCAACTAAAGCTGAATAGTTAAACTAAGCAAGAAAATCTCTACGGTTACCATTTGCTGACCTGACTTTTCAGAAACTGGACAACATCCATGGCACTGGTTTCTCTTAACTATCCAGGGAATGGCCCCTCCCTCTGAAACTCTGTGGCCCTCCTGGTCAAAGCTCGCATTTCCCAGATAGGGAAATGCGACCCATGGAGGGAAAGCCATTTGCTGGAATCTCTTGAATGGAAGGGGAAGCAAGGAGGACACTACAAACAGAACCTGCGCTTCTCTTAGACTTTATTTCTGGATCTAGGGGAAAGGGACAAAAAATGAAAAACCAACTGGTAAGGTTGGGTCAACGTGCCACAAGGGGGCACTGTGTACAGGGAGAGTCTAGGTGGCATTGGACCGCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACCTCTGGGTCTGGGGAAGGAGGGGTTGGGGGCCTGGACCTCTGAGTCTGAGGGAGGAGGGGTTGGGGGCCTGGACCCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGATCTGTACCCTTGGTTTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGCCTGAGGGAGGAGGGGCTGGGAACAGATATTCCTGAATTCCTTCCGCAGGATGTATTTGGGGGTCAATTTCATGGGTTCCCAGTCCCCAGAGTTAACTGGCCTGGACGGTTTTCTCTATCCACTCAGTGAATTTGCAGAGGTTGGTGTAGACACCTGGCACGCCAACTTGGCCACACGGGGCTTTTCCGAAAGACACAAGGCCCTGCAAGTACCCGTTGCGGATCAGGGGCCCCCCAGAGTCACCCTGTTGTGAAGAGAGGGAGAGTCAGAATTCAAAACACAGAGAGGTGGAAATGGATGTGGGCTCAGAAAGGAACTAAATGAGACTGAGAAACAAAGACAGAACCATCATCAATAACAACATAGCCCAGCAACATATCTGTTGGAAGTCCCATTCCAGATCCCTGACTTCATCTAATCCTGCTTCCCGATGTCCTATGTCCTGAATGCTGGCTGCTTCTCTTGGGCTTGTGGTCTGTCTGTTTCTGTTTGTCTGTCTCTCCTTTGTCTCCTTTGTGGCTTGTTTATCTGTCTCAGTGTCTCTGCATCTCTTTGTAAAGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTTGCCCCAGCTGGAGTATAGTGGTGTGATCTCAACTCACTTCAACCTCTGCCTCCCATATTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCATATCCAGCTAACTTTTGTATTTTTAGTACAGACAGGATTTCACCATTTTGGCCAGGCTGGTCTTGAACTCCTTACCTCAAGTGATCTGCCTGCCTCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCCTGCCCAGCCTCTTTGTAGAGTCTTGATTTTTCCTGTTTCTCTTCGTGTTTCACCTCTATGAATCTGTGTCACTGTTTCCCTCTGGGTACACAGTTGACCCTTGAACAACCCTGGTTTGAACTGCACAAGTCCACTTATACTTGGATTTTTTCAATAAACACATTAGAAAAATTTTAGGAGAGTTGCAACAATTTAAAAAAATTCACAGACGAACTGTGTAGCTTAGAAATATCAAAAAATTCCAACAAAGGTATATCATGAATGCATAAAACGTATGCATAAATCGACTATTTATGTTATTGGTAAGGCTCCCCGTCAACAGTAGGCTATTTCTAGTCAGGTTTTTGGGGAGTCAAAAGTTATAAGAGGATTTTCTGTTGGGTGGAGGTCACCGCCCTCAGGCCCCATGCTGTTGGAAGGTCAACTGCATTTCTATGTGTGTGTGTTTCTGCCTCCCCATGTCTGTTTCTGTTTCTCTCTTCCTTTGCTTCTCTTTATTCCTGTGTTTATTTCTCTGTTTCTCTCAGTTTCTCTCTCTAGTTGTCACTGTCTCCCTGTGTGTCTCTCCATCTCTGCATCTCGCCATGCGGCCCTGTGTGTCTCTGTCTCCCCCTTCTCCACCCTTCCCTGAGTCGCCTGCCCTCCCCTTTCCCCTCTCTCACGTTGCAGGAGTCCTTCTGGTCTTGCCCTCCGCCGGCGCAGAACATGCTGGGGTGGTACAGCGGGTCATAGAGCTTACTGCAGACCTCCTCAGACACCACCGACACGTTCACGCACTGCAGCACGGTAGGCATTCTGCCTGGGACGCAGAGCTCTGGGTCAGCCCCCGCGACTGGGCAGAGGACCTCCTTGAAGAGGGCAGACACACACCCGTGAGCTCACCGTTCGCCAGCAGACCCCAGCCAGAAACGAGGCAAGAGTTCCCCGCGGTAGGGCACTGCGAAGCAATGCTGATGCTCCGGATGGTGTCAGACTCGGACACGGATTCGTCCAACTTGATGAGCATGAGGTCGTTAGCGAGCAAGGGTCTGTTGTACTCTGGGTGCCGTACGGAGAGGCTGGCCTCCACCATCTGGCTCCCTGGCTCTTGGTCGGCCTCAAGACTGTGCAGGCCCAGCCCGATGGTGTAGGAGCTGTGGGCCACGGAGGGCAGGTCAGTTTTGTGGCAACTACATCCTTACCTCCATTCTCATCTTCAACCCCATTCCCATCCCCATCTCCTAACCCCAACCCCACCCTCTTCGCTAAACACCCTAAGAGCTACTTAACCATGGTCTCAAATCCTCATTCACAAAAATTCAGGGACAAGAACTTGCCTTAGTTCACTAGAGACTCAGCACTGGGCTGAGATTTCAAGTCAGGACTCTCTGAGTCCTTCCGAAGCAAGATTCCCGCCTCCCAGCCCTTCCCTCT
Task1_train_27494
An alteration has been detected in ETFB (electron transfer flavoprotein subunit beta) on Chromosome 19. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Multiple acyl-CoA dehydrogenase deficiency
CCCCCAGTTGGGTTCCCAAGGGCCCAGTGTGCCTCCACGTCTAGCATACTTCACCCCGAATTACAGCTGCCTTTGTCCTCATTGTCCCCCGCATCAATACAGAGGCTCCTCATGGGCAGGGACTGGATCCACAGGGCCTGGCACACAAAAGACTCAAGTAAATGTTGAATGAACCAAATAATGGGTCTCTAGGAAATAAGTTAACAGAGATAGATGTTGAGAGTCAGTTTTATTGCCATCTCTGGGAGGGGCTCAAATCCGCCCAATCTCCTTCAGCTTGGCCACCAGGTCCTCAGTGGTCTCCACCTTGACGCCGGCCGTGCGCTGGGGCGGGTCCTCCACACTGATCACAGAGAGCTTGGAGGTCAGGTCCACACCCAGGTCCCCAGGCTTGATCACCTCGATCTTCTTCTTCTTGGCTTTCTGCACATGGGAAGCCATTGTTCACAGGGCTGTGGAACTCCTGCCACCCTTCCTGCCACCTCCTTCCCATGGGTGCCAGGCCTGCAGACCAGTCCCATGGGCTGAACCCTCTGGACCCACCCACTGGCCAGGACACGCGAAACTTCTCACAGGGCCACACCTGGTGTGGACAACTCCTGCTGGCTAGGAGGCCCTGGGAGGCCCAACTACTGCAGCAGTCCTCCTTTAGGTAACCAAATCAGGAAGCCCTTCACTGGCTGCAACAGAGTGGCAAACCCATCCTTTTGGTAGTAATGACTCAGTGGACTTTTGGTTGAGATGGCATGCTGAAGGCTCCCAATAGGCTGAGATGATGCACTGAACCCTCCCTATAGACTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGACTGAGATGATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTGCCTATAGACTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCAGAACCCTCCCTATAGGTTGAGATGATGCGCTGAACCCTCCCTATAGACTGAGATGATGTGCTGAACCCTCCCTATAGACTGAGATGATGCGCAGAACCCTCCCTATAGGTTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGTAGTGAACACTCTGTAATGGCTGAAATGACTCATTGAACCCTCCCCATTAGTTGAGATGATCCAGTGAACCCTCCCTGTTGGCTGAGATGAATATTCTCTATTGGCGGAGATGACCCACTAAACTGTTAATATTGGCCAAGATGACCCAGCGAACCCATCTACTGGCCATGATGATTAGTGAACTCTACCTGTTAGCCAAGAGACCCCATGCACCCTTCCTAGTTAACTAAGATGATCTACATGGTAACTTCACATTGGCAAAAATTACCAAGGGGACCCTCCCTAATGAACCTAGATGACCCAGTGAACTTGTTCCACTGGCTGGAATGACAAAGGGAACACCTTCTGCTGCCCAGCGAAGGCTTTCTACTGGCCTAGATACCAGCAAGCCCTCCCTGCTAGCCAAAGCAGCCCCCATGAACTCTCAGTATTGGCAGAGATGACCCAGCAAACTCTCTCTATCAGCCAAACTCCAGGTGACGGCTTCCTGTGCACGAGACCTCCTTTGGATCCTTCCCTCCCCACGTGCGACCACCGGGGGGCACTGGGCTGGCAATGTGCTTGCCACCCCCAGGCCCTCAGTGCCCGCTGGCCAGGGGCTCACCATGATGTTGGGCAGCGTGGCGTAGCGGGGCTCGTTGAGCCTCAGGTCAGCTGTCACCACAGCTGGCAGCTTCAGGCGCAGGGTCTCCAGGCCCCCATCGATCTCCCGCTCCACTTTCAACTTGTCCCCCTCCAGCGTCACCTGGGAGGCGAATGTGCCCTGGGGAGGGACAGTGTAGGAGGAGAGTGGGTGAGGCTAATTCAGGTCCGACCCGAGCAGTCTGCTTATGCCACTACTGAGTACACGCATGGACTAGTGAATGAATGAGGGAGCGAACAATGCAGGGTCCCATGAGGTTTAGAATCGAGCTTGTACACCTGGGAGAGGGTCTTTTTCCTTTCCCTGAGAGCCACGGTGTATGTCCTGATGTCCCATGTCCTGATGCTGCCAGTGAGGCCTCCCTGCCTTCCTGACAGGGAACATGTACTGAGTGCTGAGCCCTGTGCTAAGCAACTGATGTATCAAGTCATCGAATCCTCGCAGGAACTTTATGAGGTAAATGTTATTATCCCCACTTTACAGATGAGAGAAACTGAGGCAGCAAGATGCTGAGTTACACGCCCACTGCCACCCACAGCTGGTAAATCCAAAAGCTGACAATCTGGCTCCCAACGGCCCCCCGTGAGGCCCCTCCGCTGGGCAGACAACAGAACTGTGTGTGTCCACACCAGTCCTTAAACCACCTTCTGGGACCCCGTCCTCTAGCCAGGTCCCTTTGCCTCTCAGTCCTGAATCAACATTTCCTCCCCTGGTAACTGATGCCACCTACACTCCTCTTTGTCTAACGACCTTTGTCCCTGTCCACTTATTAACTGGACACATTTTTCAGGTCTTAGTGTGAACATCACCTCCCTTCATTCACAACCTCCTCCTAGTGCCCTTATGAACCTGCCCCTGGAGACACACTGTGAACACGACCAGTGAAGCACCAGCTTGGGTGGGCTCATATTCTGCCAGGGAAGACAACCAGTCACCAGGGAAAAACACACACACACAAATGAGATCATTTCCAATCAGAAGGAATAAGAAGAAAATAAGACACATGATATGAGAGCAAGAAGGGCGCACGTTGGAGAAGCTAGTCAGACAGTGGTAAATGCTTTGAAGATAAAACAGGATAATGGTTTTGAATGTGTTGTCCCATCCAGTAGCCACTGGCTGCGTGTGGCTGTCCAGCCAGTGCAGCTGAGGAATGAATTTTTACATTTTATTTAAATTTAAATACTGATAATTTGGCCAGGCGCAGTGGTTCATGCCTGTAATCCCAGCACTTTGAGGGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGTATGGTGATGCACGCTTGTAATCCGATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAATTCGGGAGGCGGAGGCTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGGACAGAACAAGACTCCACCTCAAAAAAATAAAAATAAATAAATACTGAGAATTCAAGACACATTATCATGATTGTGGTGATGATTTCATGGATGTAACACATATCAAAACTTAAATTTTGGAGGGCTGAGGTGAGCAGCTTGCTTGAGCCCAGGAGTTAAAGACCAGCTTGGGCAACATAGTGAGACCCCCATCTCTATCTAAATAAAAGAGTTTAAGAAAAGCAAACTTAACAAATTGTGCAACTTAGATATGTGCGGTTTATTGTAGGTAAATAACTCAACGAAGCTGTTTAAAAAAAAAACAAAAACAAACAAACAAACAAACAAAAAAACACAGATACCCAATGCAGTTACTGGAAATGCAGTTACTAGAAAACTTTTAAGTTTGTTTTGAACAACTTGGGTGTGTAAATCTATTTCAACTGTCATCTTTAGGAATGTGTTTCTCATAGAAATTTAGCACCTGAATTGAGATGTGCTGTAAATATAAAATACATGCTGAATTTTGAAGATTTAGTACAAAGAAAATCCAAAAAACGTAAAATACAGATGGTCCCTGACTTATGATGGTTTGAATTAAGATTTTTCAGTTTTCCGATGATGTGACAGTGATAAACATTCAGTAGAAACCATACTGCCAGTGTCCGTACAACCATTCCG
CCCCCAGTTGGGTTCCCAAGGGCCCAGTGTGCCTCCACGTCTAGCATACTTCACCCCGAATTACAGCTGCCTTTGTCCTCATTGTCCCCCGCATCAATACAGAGGCTCCTCATGGGCAGGGACTGGATCCACAGGGCCTGGCACACAAAAGACTCAAGTAAATGTTGAATGAACCAAATAATGGGTCTCTAGGAAATAAGTTAACAGAGATAGATGTTGAGAGTCAGTTTTATTGCCATCTCTGGGAGGGGCTCAAATCCGCCCAATCTCCTTCAGCTTGGCCACCAGGTCCTCAGTGGTCTCCACCTTGACGCCGGCCGTGCGCTGGGGCGGGTCCTCCACACTGATCACAGAGAGCTTGGAGGTCAGGTCCACACCCAGGTCCCCAGGCTTGATCACCTCGATCTTCTTCTTCTTGGCTTTCTGCACATGGGAAGCCATTGTTCACAGGGCTGTGGAACTCCTGCCACCCTTCCTGCCACCTCCTTCCCATGGGTGCCAGGCCTGCAGACCAGTCCCATGGGCTGAACCCTCTGGACCCACCCACTGGCCAGGACACGCGAAACTTCTCACAGGGCCACACCTGGTGTGGACAACTCCTGCTGGCTAGGAGGCCCTGGGAGGCCCAACTACTGCAGCAGTCCTCCTTTAGGTAACCAAATCAGGAAGCCCTTCACTGGCTGCAACAGAGTGGCAAACCCATCCTTTTGGTAGTAATGACTCAGTGGACTTTTGGTTGAGATGGCATGCTGAAGGCTCCCAATAGGCTGAGATGATGCACTGAACCCTCCCTATAGACTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGACTGAGATGATGCGCAGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTGCCTATAGACTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCAGAACCCTCCCTATAGGTTGAGATGATGCGCTGAACCCTCCCTATAGACTGAGATGATGTGCTGAACCCTCCCTATAGACTGAGATGATGCGCAGAACCCTCCCTATAGGTTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGATGATGTAGTGAACACTCTGTAATGGCTGAAATGACTCATTGAACCCTCCCCATTAGTTGAGATGATCCAGTGAACCCTCCCTGTTGGCTGAGATGAATATTCTCTATTGGCGGAGATGACCCACTAAACTGTTAATATTGGCCAAGATGACCCAGCGAACCCATCTACTGGCCATGATGATTAGTGAACTCTACCTGTTAGCCAAGAGACCCCATGCACCCTTCCTAGTTAACTAAGATGATCTACATGGTAACTTCACATTGGCAAAAATTACCAAGGGGACCCTCCCTAATGAACCTAGATGACCCAGTGAACTTGTTCCACTGGCTGGAATGACAAAGGGAACACCTTCTGCTGCCCAGCGAAGGCTTTCTACTGGCCTAGATACCAGCAAGCCCTCCCTGCTAGCCAAAGCAGCCCCCATGAACTCTCAGTATTGGCAGAGATGACCCAGCAAACTCTCTCTATCAGCCAAACTCCAGGTGACGGCTTCCTGTGCACGAGACCTCCTTTGGATCCTTCCCTCCCCACGTGCGACCACCGGGGGGCACTGGGCTGGCAATGTGCTTGCCACCCCCAGGCCCTCAGTGCCCGCTGGCCAGGGGCTCACCATGATGTTGGGCAGCGTGGCGTAGCGGGGCTCGTTGAGCCTCAGGTCAGCTGTCACCACAGCTGGCAGCTTCAGGCGCAGGGTCTCCAGGCCCCCATCGATCTCCCACTCCACTTTCAACTTGTCCCCCTCCAGCGTCACCTGGGAGGCGAATGTGCCCTGGGGAGGGACAGTGTAGGAGGAGAGTGGGTGAGGCTAATTCAGGTCCGACCCGAGCAGTCTGCTTATGCCACTACTGAGTACACGCATGGACTAGTGAATGAATGAGGGAGCGAACAATGCAGGGTCCCATGAGGTTTAGAATCGAGCTTGTACACCTGGGAGAGGGTCTTTTTCCTTTCCCTGAGAGCCACGGTGTATGTCCTGATGTCCCATGTCCTGATGCTGCCAGTGAGGCCTCCCTGCCTTCCTGACAGGGAACATGTACTGAGTGCTGAGCCCTGTGCTAAGCAACTGATGTATCAAGTCATCGAATCCTCGCAGGAACTTTATGAGGTAAATGTTATTATCCCCACTTTACAGATGAGAGAAACTGAGGCAGCAAGATGCTGAGTTACACGCCCACTGCCACCCACAGCTGGTAAATCCAAAAGCTGACAATCTGGCTCCCAACGGCCCCCCGTGAGGCCCCTCCGCTGGGCAGACAACAGAACTGTGTGTGTCCACACCAGTCCTTAAACCACCTTCTGGGACCCCGTCCTCTAGCCAGGTCCCTTTGCCTCTCAGTCCTGAATCAACATTTCCTCCCCTGGTAACTGATGCCACCTACACTCCTCTTTGTCTAACGACCTTTGTCCCTGTCCACTTATTAACTGGACACATTTTTCAGGTCTTAGTGTGAACATCACCTCCCTTCATTCACAACCTCCTCCTAGTGCCCTTATGAACCTGCCCCTGGAGACACACTGTGAACACGACCAGTGAAGCACCAGCTTGGGTGGGCTCATATTCTGCCAGGGAAGACAACCAGTCACCAGGGAAAAACACACACACACAAATGAGATCATTTCCAATCAGAAGGAATAAGAAGAAAATAAGACACATGATATGAGAGCAAGAAGGGCGCACGTTGGAGAAGCTAGTCAGACAGTGGTAAATGCTTTGAAGATAAAACAGGATAATGGTTTTGAATGTGTTGTCCCATCCAGTAGCCACTGGCTGCGTGTGGCTGTCCAGCCAGTGCAGCTGAGGAATGAATTTTTACATTTTATTTAAATTTAAATACTGATAATTTGGCCAGGCGCAGTGGTTCATGCCTGTAATCCCAGCACTTTGAGGGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGTATGGTGATGCACGCTTGTAATCCGATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAATTCGGGAGGCGGAGGCTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGGACAGAACAAGACTCCACCTCAAAAAAATAAAAATAAATAAATACTGAGAATTCAAGACACATTATCATGATTGTGGTGATGATTTCATGGATGTAACACATATCAAAACTTAAATTTTGGAGGGCTGAGGTGAGCAGCTTGCTTGAGCCCAGGAGTTAAAGACCAGCTTGGGCAACATAGTGAGACCCCCATCTCTATCTAAATAAAAGAGTTTAAGAAAAGCAAACTTAACAAATTGTGCAACTTAGATATGTGCGGTTTATTGTAGGTAAATAACTCAACGAAGCTGTTTAAAAAAAAAACAAAAACAAACAAACAAACAAACAAAAAAACACAGATACCCAATGCAGTTACTGGAAATGCAGTTACTAGAAAACTTTTAAGTTTGTTTTGAACAACTTGGGTGTGTAAATCTATTTCAACTGTCATCTTTAGGAATGTGTTTCTCATAGAAATTTAGCACCTGAATTGAGATGTGCTGTAAATATAAAATACATGCTGAATTTTGAAGATTTAGTACAAAGAAAATCCAAAAAACGTAAAATACAGATGGTCCCTGACTTATGATGGTTTGAATTAAGATTTTTCAGTTTTCCGATGATGTGACAGTGATAAACATTCAGTAGAAACCATACTGCCAGTGTCCGTACAACCATTCCG
Task1_train_27495
The following genetic variant occurs in LIM2 (lens intrinsic membrane protein 2) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Cataract 19 multiple types
AGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAACAAATAAGTAAAATAAAAAATGGGGTTGCCATTTCCTAAGATGGGGAAGACCATGGGAGGAACACATAGGCTGTGTGTGAGATCAGGAACTTATTTTTGGATATGTGAGATTGGAGATGCCTCTTCTTTTCAAGTGGGAATGTTGAGTAAGTAAGTTGAGCAGGTAAGTTGGAGTCCTGAGTCTGGAGTCATAATTATATCATTATTATTGCTAGAGTAAGCCCCTATAAATATGATTACTAGAATAAGTCTCGGCAAATATTTCTATTTAAATAGGCCTCAATAAATTATTAGAGAAATCTTCAATTGTCATTATTATTAGAGAAAACCTCTATAAATACAGTATTTTTATTTGAGGAGGCCCCAGTAAATATTATTTTAGGGAATAAGCCTCTATAAACATAACATTTATTAGCATAGCTGTAGTAAATAGTCTGATTAGAATCAGCCTTATGAAATAGTCTTATGATAGACATCAGTAAATCTCATGGCAGTTAGCAACCATTTATTTTCTTTTTCTTTTTCTTTTTTATTTTGAGACATAGTCTTACTCTCGCTCAGGCTGGAGTGCAGTGGTGCTATCACAGCTCACTGCAACCTCCGTCTCCTCGGACTCCAGCGACCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACAGGCACACACCAACATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTGTAGAGATGGGGTTTTCTCATGTTGCCTGGGGGACTCCTGGGCTTGAGCAATCCACCTGCCTTGGTTTTCCAAAGTGCTGGGATTACCGGTGTGAGACACCACACCCAGCCAGCATCAATTAATAGAATGAATTACTAATGAGTGAATGAAGAGAAGATCACGGTCATGAATGGTGTGTGAAGAGCAGGTGCCGGAGGTAAGGCTCAGGGTTCTGGTGTTTCCTTTGAAGGGACGCATCAGGGGAGGAGAGAGGAGGCTGGGGAGAGCCAACTGGAGGCGGGGTGGGCAGGGAGTTTTTTCAGAGATCTTTTCATTTGTCCGATTATCCTACACATCCATATCCTGGAAGTTGAACTGTGGTGAGCTCCTGGACACGGACTGTTGATTCATCTCTGTTCCCCTCCGTGCAGAAACTGAGAAGGTCAGGCCTCCATAATACAGCACCCCTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGTGGATCATCTGAAGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAGTAACCAGGAGTGGTAGTGGGCCCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAAAATCACTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCTGAGATCGCACCATTGCACCCCAGCCTGGGCAACAAAGGCGAAACTCCGTCTCAAAACAATGAAGACAACAACCACAAGAAAAACACACAAAAAAGCACCCCTGCCCACACCCACCACCCTTACAGCTGTTTCTCCCCATCCTAGTCCCTCAAGTATTAACACTTTAGTAGTTTCACATCAGTTTTATTAGGCCCCAGAAAGTTGCTCTAATGGATAGTCCATTTTTCTAACAACCTGCCAGGCAGACGGGGACTTGAGTCTTCTCAGCTCCCTCCCATGGGCCCTATTCTTCCTCCTTCCAGCCTAGGACCAGGAGTCAGCCTCCCCCCACAAACCCACAGTCCAGAACTGAGCCCCCTCATTCCCCTAGGAACCAGGATTTCAGGCCTCTAGACCCTCCTCCTCCTCTTCAGTGGCCTCACTTTAACTTCCAGATGAAGTTGGGGGACACATTTGGGCTCAGCGGGGTGTAGACAGGCGCCGGCATTCATGCACCCGGTAGGCGCACATGTAGAAAATCCCTGCATGAGAAGAAGTTCAAATTCACCCCCTCAAACCTCCCCCAGCTCCATTTCCACCCCAAGAGAGCCCAACACCCTACTCTCTTTCTCCCTGGGTATCCCCGACCCCAGACTCCATAGGCCTGGAGTCTTCCTCCTGACCCAGTGCTGTGGGACTCATGTGGGACACCCTGTCATCTTCCACTCTATCTGCTGCCCACTCTGCCCCAGGCACTGACCTTCCCACCCCTTGCCCCCAGTACCTGCGAAGAACGTCATGAGCACTGCCACCCAGCCCAGGATGTAGGACCAGGAAAAGCGCCAGTCCCCAAAGCGGCGGCCCAGGAAGCTGACGGTGACTCCAGTGTAGATGGCCAAGGCCAACACGACGAAAAGGGCTGGGGAGAGAGGGCGGGAGGATGCAGGTGGGACTAAGGCTGGGTGTGATTTTGGAGGTGGGCAGAGAGCTGATGATGGGGGTGGGAACTAAGATTGGGGAAAGGGGTGGAAATGGGTTGGGGGTGGGGATAGGAGTGAGGATAGGGGTTGAGTTGAAATTAGGGGTAAAGATGATTGGGGGATAGGTTTGGGATGGGGTTGGACACGCTTGTGTTTTATAATGTAATTGGCCATTGTCTCTGGTTCCTGGGAGGGAGAAACAATATTTGGAACTTCCTGAGTAATAGGAGGGTCTTTGTTATTCTTGAGCCTCTTGGGCCCAACCTGAGTTTATGGTAATGAGATGAGATGACTCAGGGTTGGGTGTGGTTGTCAGAAAAACCAACCAGGTCAGGCACAGTGACTCATGCGTGTCATCCCAACACTTTGGGAGGCTGAGTAGGGTGGATCACTTGAGGTCAGGAGATCAAGATCAGCCTGGTCAACATGGTGAAACCCCGTCTCTACTAAAAATACAATAAAAAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGAGCCACTACACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAGGAGAACAAAAAAGAAAGAAAGAAAGACCGACCATGATATGTTGAGGCTCTGAACCACTTGATATCAGGGAAGAAAGGAAGTTGGAAACTGCATTCCATCAATGACCAACGATTCAATCAGTCATGCCTATTTTACAAGACTCCAATAAAACCTCTGGACACTGAAGCTCAGTGGCGCTCCCTATTGGTGAAAACATCTGTGTGCTGGGAGGGTGATCCCTGGCTCCACAGGAAGAAGGCTTGGAAGCTCTGCATTTTGGGCTCTCCTAGACTCTGCCCTCTGTGTCTCTTCATTTGCTTGGACCTGAGTTGTGTCCTCTATAAGGAAACTATAACTGTAAGTATAGCACTTTCCTGCATTCTATGAGTTATTCCAGCAATTTTTGTTGTTGTTATTGTTGTTGTTGTTTTTGTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCCCAGCTCACTGCAAGCTCCGCCTCCTGAGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGACACCACGCCTGGCTAATTTTGTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGAATTACGGGCGTGAGCCATCGCACCCGGCCTCCAGCAAATTTTTGAATCTGAGTGGGTCTTGGGAACCTCCTAGTTTGTAGCCAGTGGATCAAAAGCATGGGTGGCCCAGGCACCCTGCTTGCAGCTTGTAGCTGAGGTGGAAGCAGTCTTGCTAGGGACTGTGGTCTTAACCTGTGGAGTCAAACACAAATTTTAGGTGATTCATGCCAGAACTGAACTGTAGTACACCAGCTAGTGTCAGAATAGACTGGAACTAGAAATAGTCATGAGGTTGGTTTTGAGTGTGGGGATGGGATTAGGGTGGGGTGGGG
AGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAACAAATAAGTAAAATAAAAAATGGGGTTGCCATTTCCTAAGATGGGGAAGACCATGGGAGGAACACATAGGCTGTGTGTGAGATCAGGAACTTATTTTTGGATATGTGAGATTGGAGATGCCTCTTCTTTTCAAGTGGGAATGTTGAGTAAGTAAGTTGAGCAGGTAAGTTGGAGTCCTGAGTCTGGAGTCATAATTATATCATTATTATTGCTAGAGTAAGCCCCTATAAATATGATTACTAGAATAAGTCTCGGCAAATATTTCTATTTAAATAGGCCTCAATAAATTATTAGAGAAATCTTCAATTGTCATTATTATTAGAGAAAACCTCTATAAATACAGTATTTTTATTTGAGGAGGCCCCAGTAAATATTATTTTAGGGAATAAGCCTCTATAAACATAACATTTATTAGCATAGCTGTAGTAAATAGTCTGATTAGAATCAGCCTTATGAAATAGTCTTATGATAGACATCAGTAAATCTCATGGCAGTTAGCAACCATTTATTTTCTTTTTCTTTTTCTTTTTTATTTTGAGACATAGTCTTACTCTCGCTCAGGCTGGAGTGCAGTGGTGCTATCACAGCTCACTGCAACCTCCGTCTCCTCGGACTCCAGCGACCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACAGGCACACACCAACATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTGTAGAGATGGGGTTTTCTCATGTTGCCTGGGGGACTCCTGGGCTTGAGCAATCCACCTGCCTTGGTTTTCCAAAGTGCTGGGATTACCGGTGTGAGACACCACACCCAGCCAGCATCAATTAATAGAATGAATTACTAATGAGTGAATGAAGAGAAGATCACGGTCATGAATGGTGTGTGAAGAGCAGGTGCCGGAGGTAAGGCTCAGGGTTCTGGTGTTTCCTTTGAAGGGACGCATCAGGGGAGGAGAGAGGAGGCTGGGGAGAGCCAACTGGAGGCGGGGTGGGCAGGGAGTTTTTTCAGAGATCTTTTCATTTGTCCGATTATCCTACACATCCATATCCTGGAAGTTGAACTGTGGTGAGCTCCTGGACACGGACTGTTGATTCATCTCTGTTCCCCTCCGTGCAGAAACTGAGAAGGTCAGGCCTCCATAATACAGCACCCCTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGTGGATCATCTGAAGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAGTAACCAGGAGTGGTAGTGGGCCCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAAAATCACTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCTGAGATCGCACCATTGCACCCCAGCCTGGGCAACAAAGGCGAAACTCCGTCTCAAAACAATGAAGACAACAACCACAAGAAAAACACACAAAAAAGCACCCCTGCCCACACCCACCACCCTTACAGCTGTTTCTCCCCATCCTAGTCCCTCAAGTATTAACACTTTAGTAGTTTCACATCAGTTTTATTAGGCCCCAGAAAGTTGCTCTAATGGATAGTCCATTTTTCTAACAACCTGCCAGGCAGACGGGGACTTGAGTCTTCTCAGCTCCCTCCCATGGGCCCTATTCTTCCTCCTTCCAGCCTAGGACCAGGAGTCAGCCTCCCCCCACAAACCCACAGTCCAGAACTGAGCCCCCTCATTCCCCTAGGAACCAGGATTTCAGGCCTCTAGACCCTCCTCCTCCTCTTCAGTGGCCTCACTTTAACTTCCAGATGAAGTTGGGGGACACATTTGGGCTCAGCGGGGTGTAGACAGGCGCCGGCATTCATGCACCCGGTAGGCGCACATGTAGAAAATCTCTGCATGAGAAGAAGTTCAAATTCACCCCCTCAAACCTCCCCCAGCTCCATTTCCACCCCAAGAGAGCCCAACACCCTACTCTCTTTCTCCCTGGGTATCCCCGACCCCAGACTCCATAGGCCTGGAGTCTTCCTCCTGACCCAGTGCTGTGGGACTCATGTGGGACACCCTGTCATCTTCCACTCTATCTGCTGCCCACTCTGCCCCAGGCACTGACCTTCCCACCCCTTGCCCCCAGTACCTGCGAAGAACGTCATGAGCACTGCCACCCAGCCCAGGATGTAGGACCAGGAAAAGCGCCAGTCCCCAAAGCGGCGGCCCAGGAAGCTGACGGTGACTCCAGTGTAGATGGCCAAGGCCAACACGACGAAAAGGGCTGGGGAGAGAGGGCGGGAGGATGCAGGTGGGACTAAGGCTGGGTGTGATTTTGGAGGTGGGCAGAGAGCTGATGATGGGGGTGGGAACTAAGATTGGGGAAAGGGGTGGAAATGGGTTGGGGGTGGGGATAGGAGTGAGGATAGGGGTTGAGTTGAAATTAGGGGTAAAGATGATTGGGGGATAGGTTTGGGATGGGGTTGGACACGCTTGTGTTTTATAATGTAATTGGCCATTGTCTCTGGTTCCTGGGAGGGAGAAACAATATTTGGAACTTCCTGAGTAATAGGAGGGTCTTTGTTATTCTTGAGCCTCTTGGGCCCAACCTGAGTTTATGGTAATGAGATGAGATGACTCAGGGTTGGGTGTGGTTGTCAGAAAAACCAACCAGGTCAGGCACAGTGACTCATGCGTGTCATCCCAACACTTTGGGAGGCTGAGTAGGGTGGATCACTTGAGGTCAGGAGATCAAGATCAGCCTGGTCAACATGGTGAAACCCCGTCTCTACTAAAAATACAATAAAAAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGAGCCACTACACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAGGAGAACAAAAAAGAAAGAAAGAAAGACCGACCATGATATGTTGAGGCTCTGAACCACTTGATATCAGGGAAGAAAGGAAGTTGGAAACTGCATTCCATCAATGACCAACGATTCAATCAGTCATGCCTATTTTACAAGACTCCAATAAAACCTCTGGACACTGAAGCTCAGTGGCGCTCCCTATTGGTGAAAACATCTGTGTGCTGGGAGGGTGATCCCTGGCTCCACAGGAAGAAGGCTTGGAAGCTCTGCATTTTGGGCTCTCCTAGACTCTGCCCTCTGTGTCTCTTCATTTGCTTGGACCTGAGTTGTGTCCTCTATAAGGAAACTATAACTGTAAGTATAGCACTTTCCTGCATTCTATGAGTTATTCCAGCAATTTTTGTTGTTGTTATTGTTGTTGTTGTTTTTGTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCCCAGCTCACTGCAAGCTCCGCCTCCTGAGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGACACCACGCCTGGCTAATTTTGTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGAATTACGGGCGTGAGCCATCGCACCCGGCCTCCAGCAAATTTTTGAATCTGAGTGGGTCTTGGGAACCTCCTAGTTTGTAGCCAGTGGATCAAAAGCATGGGTGGCCCAGGCACCCTGCTTGCAGCTTGTAGCTGAGGTGGAAGCAGTCTTGCTAGGGACTGTGGTCTTAACCTGTGGAGTCAAACACAAATTTTAGGTGATTCATGCCAGAACTGAACTGTAGTACACCAGCTAGTGTCAGAATAGACTGGAACTAGAAATAGTCATGAGGTTGGTTTTGAGTGTGGGGATGGGATTAGGGTGGGGTGGGG
Task1_train_27496
This mutation occurs in LIM2 (lens intrinsic membrane protein 2) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Cataract 19 multiple types
AGTCCTGAGTCTGGAGTCATAATTATATCATTATTATTGCTAGAGTAAGCCCCTATAAATATGATTACTAGAATAAGTCTCGGCAAATATTTCTATTTAAATAGGCCTCAATAAATTATTAGAGAAATCTTCAATTGTCATTATTATTAGAGAAAACCTCTATAAATACAGTATTTTTATTTGAGGAGGCCCCAGTAAATATTATTTTAGGGAATAAGCCTCTATAAACATAACATTTATTAGCATAGCTGTAGTAAATAGTCTGATTAGAATCAGCCTTATGAAATAGTCTTATGATAGACATCAGTAAATCTCATGGCAGTTAGCAACCATTTATTTTCTTTTTCTTTTTCTTTTTTATTTTGAGACATAGTCTTACTCTCGCTCAGGCTGGAGTGCAGTGGTGCTATCACAGCTCACTGCAACCTCCGTCTCCTCGGACTCCAGCGACCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACAGGCACACACCAACATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTGTAGAGATGGGGTTTTCTCATGTTGCCTGGGGGACTCCTGGGCTTGAGCAATCCACCTGCCTTGGTTTTCCAAAGTGCTGGGATTACCGGTGTGAGACACCACACCCAGCCAGCATCAATTAATAGAATGAATTACTAATGAGTGAATGAAGAGAAGATCACGGTCATGAATGGTGTGTGAAGAGCAGGTGCCGGAGGTAAGGCTCAGGGTTCTGGTGTTTCCTTTGAAGGGACGCATCAGGGGAGGAGAGAGGAGGCTGGGGAGAGCCAACTGGAGGCGGGGTGGGCAGGGAGTTTTTTCAGAGATCTTTTCATTTGTCCGATTATCCTACACATCCATATCCTGGAAGTTGAACTGTGGTGAGCTCCTGGACACGGACTGTTGATTCATCTCTGTTCCCCTCCGTGCAGAAACTGAGAAGGTCAGGCCTCCATAATACAGCACCCCTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGTGGATCATCTGAAGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAGTAACCAGGAGTGGTAGTGGGCCCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAAAATCACTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCTGAGATCGCACCATTGCACCCCAGCCTGGGCAACAAAGGCGAAACTCCGTCTCAAAACAATGAAGACAACAACCACAAGAAAAACACACAAAAAAGCACCCCTGCCCACACCCACCACCCTTACAGCTGTTTCTCCCCATCCTAGTCCCTCAAGTATTAACACTTTAGTAGTTTCACATCAGTTTTATTAGGCCCCAGAAAGTTGCTCTAATGGATAGTCCATTTTTCTAACAACCTGCCAGGCAGACGGGGACTTGAGTCTTCTCAGCTCCCTCCCATGGGCCCTATTCTTCCTCCTTCCAGCCTAGGACCAGGAGTCAGCCTCCCCCCACAAACCCACAGTCCAGAACTGAGCCCCCTCATTCCCCTAGGAACCAGGATTTCAGGCCTCTAGACCCTCCTCCTCCTCTTCAGTGGCCTCACTTTAACTTCCAGATGAAGTTGGGGGACACATTTGGGCTCAGCGGGGTGTAGACAGGCGCCGGCATTCATGCACCCGGTAGGCGCACATGTAGAAAATCCCTGCATGAGAAGAAGTTCAAATTCACCCCCTCAAACCTCCCCCAGCTCCATTTCCACCCCAAGAGAGCCCAACACCCTACTCTCTTTCTCCCTGGGTATCCCCGACCCCAGACTCCATAGGCCTGGAGTCTTCCTCCTGACCCAGTGCTGTGGGACTCATGTGGGACACCCTGTCATCTTCCACTCTATCTGCTGCCCACTCTGCCCCAGGCACTGACCTTCCCACCCCTTGCCCCCAGTACCTGCGAAGAACGTCATGAGCACTGCCACCCAGCCCAGGATGTAGGACCAGGAAAAGCGCCAGTCCCCAAAGCGGCGGCCCAGGAAGCTGACGGTGACTCCAGTGTAGATGGCCAAGGCCAACACGACGAAAAGGGCTGGGGAGAGAGGGCGGGAGGATGCAGGTGGGACTAAGGCTGGGTGTGATTTTGGAGGTGGGCAGAGAGCTGATGATGGGGGTGGGAACTAAGATTGGGGAAAGGGGTGGAAATGGGTTGGGGGTGGGGATAGGAGTGAGGATAGGGGTTGAGTTGAAATTAGGGGTAAAGATGATTGGGGGATAGGTTTGGGATGGGGTTGGACACGCTTGTGTTTTATAATGTAATTGGCCATTGTCTCTGGTTCCTGGGAGGGAGAAACAATATTTGGAACTTCCTGAGTAATAGGAGGGTCTTTGTTATTCTTGAGCCTCTTGGGCCCAACCTGAGTTTATGGTAATGAGATGAGATGACTCAGGGTTGGGTGTGGTTGTCAGAAAAACCAACCAGGTCAGGCACAGTGACTCATGCGTGTCATCCCAACACTTTGGGAGGCTGAGTAGGGTGGATCACTTGAGGTCAGGAGATCAAGATCAGCCTGGTCAACATGGTGAAACCCCGTCTCTACTAAAAATACAATAAAAAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGAGCCACTACACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAGGAGAACAAAAAAGAAAGAAAGAAAGACCGACCATGATATGTTGAGGCTCTGAACCACTTGATATCAGGGAAGAAAGGAAGTTGGAAACTGCATTCCATCAATGACCAACGATTCAATCAGTCATGCCTATTTTACAAGACTCCAATAAAACCTCTGGACACTGAAGCTCAGTGGCGCTCCCTATTGGTGAAAACATCTGTGTGCTGGGAGGGTGATCCCTGGCTCCACAGGAAGAAGGCTTGGAAGCTCTGCATTTTGGGCTCTCCTAGACTCTGCCCTCTGTGTCTCTTCATTTGCTTGGACCTGAGTTGTGTCCTCTATAAGGAAACTATAACTGTAAGTATAGCACTTTCCTGCATTCTATGAGTTATTCCAGCAATTTTTGTTGTTGTTATTGTTGTTGTTGTTTTTGTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCCCAGCTCACTGCAAGCTCCGCCTCCTGAGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGACACCACGCCTGGCTAATTTTGTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGAATTACGGGCGTGAGCCATCGCACCCGGCCTCCAGCAAATTTTTGAATCTGAGTGGGTCTTGGGAACCTCCTAGTTTGTAGCCAGTGGATCAAAAGCATGGGTGGCCCAGGCACCCTGCTTGCAGCTTGTAGCTGAGGTGGAAGCAGTCTTGCTAGGGACTGTGGTCTTAACCTGTGGAGTCAAACACAAATTTTAGGTGATTCATGCCAGAACTGAACTGTAGTACACCAGCTAGTGTCAGAATAGACTGGAACTAGAAATAGTCATGAGGTTGGTTTTGAGTGTGGGGATGGGATTAGGGTGGGGTGGGGTTGAGTGTGAGGAGGAGTAAGGGGTGAGAATGGTGTTGAGGGGTGGGGACAGATTGGGGTTTGAGATGAGAGCGAGGAGAGGGGTAGGGAGAGGGTGGGCTTACTCACTTGAGGAAAAAAACATGATGCCAGCAGAGAAGGGCCGGGAGATGCGGGAGAAGGTAGGCTGATGAGCGAAGGCCATGATGCCCATGATGATGCCGGAGATGGCGCATAGGGCAGACAGGATCATGAAGGCCCGGGTGGCATTCCAGTATGCTGTGGGAGCACCCCATGGTCATTCCCACACCTCCCCTGCTCTAAGTGAGAGATGCT
AGTCCTGAGTCTGGAGTCATAATTATATCATTATTATTGCTAGAGTAAGCCCCTATAAATATGATTACTAGAATAAGTCTCGGCAAATATTTCTATTTAAATAGGCCTCAATAAATTATTAGAGAAATCTTCAATTGTCATTATTATTAGAGAAAACCTCTATAAATACAGTATTTTTATTTGAGGAGGCCCCAGTAAATATTATTTTAGGGAATAAGCCTCTATAAACATAACATTTATTAGCATAGCTGTAGTAAATAGTCTGATTAGAATCAGCCTTATGAAATAGTCTTATGATAGACATCAGTAAATCTCATGGCAGTTAGCAACCATTTATTTTCTTTTTCTTTTTCTTTTTTATTTTGAGACATAGTCTTACTCTCGCTCAGGCTGGAGTGCAGTGGTGCTATCACAGCTCACTGCAACCTCCGTCTCCTCGGACTCCAGCGACCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACAGGCACACACCAACATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTGTAGAGATGGGGTTTTCTCATGTTGCCTGGGGGACTCCTGGGCTTGAGCAATCCACCTGCCTTGGTTTTCCAAAGTGCTGGGATTACCGGTGTGAGACACCACACCCAGCCAGCATCAATTAATAGAATGAATTACTAATGAGTGAATGAAGAGAAGATCACGGTCATGAATGGTGTGTGAAGAGCAGGTGCCGGAGGTAAGGCTCAGGGTTCTGGTGTTTCCTTTGAAGGGACGCATCAGGGGAGGAGAGAGGAGGCTGGGGAGAGCCAACTGGAGGCGGGGTGGGCAGGGAGTTTTTTCAGAGATCTTTTCATTTGTCCGATTATCCTACACATCCATATCCTGGAAGTTGAACTGTGGTGAGCTCCTGGACACGGACTGTTGATTCATCTCTGTTCCCCTCCGTGCAGAAACTGAGAAGGTCAGGCCTCCATAATACAGCACCCCTGGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGTGGATCATCTGAAGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAGTAACCAGGAGTGGTAGTGGGCCCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAAAATCACTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCTGAGATCGCACCATTGCACCCCAGCCTGGGCAACAAAGGCGAAACTCCGTCTCAAAACAATGAAGACAACAACCACAAGAAAAACACACAAAAAAGCACCCCTGCCCACACCCACCACCCTTACAGCTGTTTCTCCCCATCCTAGTCCCTCAAGTATTAACACTTTAGTAGTTTCACATCAGTTTTATTAGGCCCCAGAAAGTTGCTCTAATGGATAGTCCATTTTTCTAACAACCTGCCAGGCAGACGGGGACTTGAGTCTTCTCAGCTCCCTCCCATGGGCCCTATTCTTCCTCCTTCCAGCCTAGGACCAGGAGTCAGCCTCCCCCCACAAACCCACAGTCCAGAACTGAGCCCCCTCATTCCCCTAGGAACCAGGATTTCAGGCCTCTAGACCCTCCTCCTCCTCTTCAGTGGCCTCACTTTAACTTCCAGATGAAGTTGGGGGACACATTTGGGCTCAGCGGGGTGTAGACAGGCGCCGGCATTCATGCACCCGGTAGGCGCACATGTAGAAAATCCCTGCATGAGAAGAAGTTCAAATTCACCCCCTCAAACCTCCCCCAGCTCCATTTCCACCCCAAGAGAGCCCAACACCCTACTCTCTTTCTCCCTGGGTATCCCCGACCCCAGACTCCATAGGCCTGGAGTCTTCCTCCTGACCCAGTGCTGTGGGACTCATGTGGGACACCCTGTCATCTTCCACTCTATCTGCTGCCCACTCTGCCCCAGGCACTGACCTTCCCACCCCTTGCCCCCAGTACCTGCGAAGAACGTCATGAGCACTGCCACCCAGCCCAGGATGTAGGACCAGGAAAAGCGCCAGTCCCCAAAGCAGCGGCCCAGGAAGCTGACGGTGACTCCAGTGTAGATGGCCAAGGCCAACACGACGAAAAGGGCTGGGGAGAGAGGGCGGGAGGATGCAGGTGGGACTAAGGCTGGGTGTGATTTTGGAGGTGGGCAGAGAGCTGATGATGGGGGTGGGAACTAAGATTGGGGAAAGGGGTGGAAATGGGTTGGGGGTGGGGATAGGAGTGAGGATAGGGGTTGAGTTGAAATTAGGGGTAAAGATGATTGGGGGATAGGTTTGGGATGGGGTTGGACACGCTTGTGTTTTATAATGTAATTGGCCATTGTCTCTGGTTCCTGGGAGGGAGAAACAATATTTGGAACTTCCTGAGTAATAGGAGGGTCTTTGTTATTCTTGAGCCTCTTGGGCCCAACCTGAGTTTATGGTAATGAGATGAGATGACTCAGGGTTGGGTGTGGTTGTCAGAAAAACCAACCAGGTCAGGCACAGTGACTCATGCGTGTCATCCCAACACTTTGGGAGGCTGAGTAGGGTGGATCACTTGAGGTCAGGAGATCAAGATCAGCCTGGTCAACATGGTGAAACCCCGTCTCTACTAAAAATACAATAAAAAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGAGCCACTACACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAGGAGAACAAAAAAGAAAGAAAGAAAGACCGACCATGATATGTTGAGGCTCTGAACCACTTGATATCAGGGAAGAAAGGAAGTTGGAAACTGCATTCCATCAATGACCAACGATTCAATCAGTCATGCCTATTTTACAAGACTCCAATAAAACCTCTGGACACTGAAGCTCAGTGGCGCTCCCTATTGGTGAAAACATCTGTGTGCTGGGAGGGTGATCCCTGGCTCCACAGGAAGAAGGCTTGGAAGCTCTGCATTTTGGGCTCTCCTAGACTCTGCCCTCTGTGTCTCTTCATTTGCTTGGACCTGAGTTGTGTCCTCTATAAGGAAACTATAACTGTAAGTATAGCACTTTCCTGCATTCTATGAGTTATTCCAGCAATTTTTGTTGTTGTTATTGTTGTTGTTGTTTTTGTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCCCAGCTCACTGCAAGCTCCGCCTCCTGAGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGACACCACGCCTGGCTAATTTTGTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGAATTACGGGCGTGAGCCATCGCACCCGGCCTCCAGCAAATTTTTGAATCTGAGTGGGTCTTGGGAACCTCCTAGTTTGTAGCCAGTGGATCAAAAGCATGGGTGGCCCAGGCACCCTGCTTGCAGCTTGTAGCTGAGGTGGAAGCAGTCTTGCTAGGGACTGTGGTCTTAACCTGTGGAGTCAAACACAAATTTTAGGTGATTCATGCCAGAACTGAACTGTAGTACACCAGCTAGTGTCAGAATAGACTGGAACTAGAAATAGTCATGAGGTTGGTTTTGAGTGTGGGGATGGGATTAGGGTGGGGTGGGGTTGAGTGTGAGGAGGAGTAAGGGGTGAGAATGGTGTTGAGGGGTGGGGACAGATTGGGGTTTGAGATGAGAGCGAGGAGAGGGGTAGGGAGAGGGTGGGCTTACTCACTTGAGGAAAAAAACATGATGCCAGCAGAGAAGGGCCGGGAGATGCGGGAGAAGGTAGGCTGATGAGCGAAGGCCATGATGCCCATGATGATGCCGGAGATGGCGCATAGGGCAGACAGGATCATGAAGGCCCGGGTGGCATTCCAGTATGCTGTGGGAGCACCCCATGGTCATTCCCACACCTCCCCTGCTCTAAGTGAGAGATGCT
Task1_train_27497
This genomic variant is located on Chromosome 19, within the LIM2 (lens intrinsic membrane protein 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Cataract 19 multiple types
GGCCTGGAGTCTTCCTCCTGACCCAGTGCTGTGGGACTCATGTGGGACACCCTGTCATCTTCCACTCTATCTGCTGCCCACTCTGCCCCAGGCACTGACCTTCCCACCCCTTGCCCCCAGTACCTGCGAAGAACGTCATGAGCACTGCCACCCAGCCCAGGATGTAGGACCAGGAAAAGCGCCAGTCCCCAAAGCGGCGGCCCAGGAAGCTGACGGTGACTCCAGTGTAGATGGCCAAGGCCAACACGACGAAAAGGGCTGGGGAGAGAGGGCGGGAGGATGCAGGTGGGACTAAGGCTGGGTGTGATTTTGGAGGTGGGCAGAGAGCTGATGATGGGGGTGGGAACTAAGATTGGGGAAAGGGGTGGAAATGGGTTGGGGGTGGGGATAGGAGTGAGGATAGGGGTTGAGTTGAAATTAGGGGTAAAGATGATTGGGGGATAGGTTTGGGATGGGGTTGGACACGCTTGTGTTTTATAATGTAATTGGCCATTGTCTCTGGTTCCTGGGAGGGAGAAACAATATTTGGAACTTCCTGAGTAATAGGAGGGTCTTTGTTATTCTTGAGCCTCTTGGGCCCAACCTGAGTTTATGGTAATGAGATGAGATGACTCAGGGTTGGGTGTGGTTGTCAGAAAAACCAACCAGGTCAGGCACAGTGACTCATGCGTGTCATCCCAACACTTTGGGAGGCTGAGTAGGGTGGATCACTTGAGGTCAGGAGATCAAGATCAGCCTGGTCAACATGGTGAAACCCCGTCTCTACTAAAAATACAATAAAAAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGAGCCACTACACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAGGAGAACAAAAAAGAAAGAAAGAAAGACCGACCATGATATGTTGAGGCTCTGAACCACTTGATATCAGGGAAGAAAGGAAGTTGGAAACTGCATTCCATCAATGACCAACGATTCAATCAGTCATGCCTATTTTACAAGACTCCAATAAAACCTCTGGACACTGAAGCTCAGTGGCGCTCCCTATTGGTGAAAACATCTGTGTGCTGGGAGGGTGATCCCTGGCTCCACAGGAAGAAGGCTTGGAAGCTCTGCATTTTGGGCTCTCCTAGACTCTGCCCTCTGTGTCTCTTCATTTGCTTGGACCTGAGTTGTGTCCTCTATAAGGAAACTATAACTGTAAGTATAGCACTTTCCTGCATTCTATGAGTTATTCCAGCAATTTTTGTTGTTGTTATTGTTGTTGTTGTTTTTGTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCCCAGCTCACTGCAAGCTCCGCCTCCTGAGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGACACCACGCCTGGCTAATTTTGTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGAATTACGGGCGTGAGCCATCGCACCCGGCCTCCAGCAAATTTTTGAATCTGAGTGGGTCTTGGGAACCTCCTAGTTTGTAGCCAGTGGATCAAAAGCATGGGTGGCCCAGGCACCCTGCTTGCAGCTTGTAGCTGAGGTGGAAGCAGTCTTGCTAGGGACTGTGGTCTTAACCTGTGGAGTCAAACACAAATTTTAGGTGATTCATGCCAGAACTGAACTGTAGTACACCAGCTAGTGTCAGAATAGACTGGAACTAGAAATAGTCATGAGGTTGGTTTTGAGTGTGGGGATGGGATTAGGGTGGGGTGGGGTTGAGTGTGAGGAGGAGTAAGGGGTGAGAATGGTGTTGAGGGGTGGGGACAGATTGGGGTTTGAGATGAGAGCGAGGAGAGGGGTAGGGAGAGGGTGGGCTTACTCACTTGAGGAAAAAAACATGATGCCAGCAGAGAAGGGCCGGGAGATGCGGGAGAAGGTAGGCTGATGAGCGAAGGCCATGATGCCCATGATGATGCCGGAGATGGCGCATAGGGCAGACAGGATCATGAAGGCCCGGGTGGCATTCCAGTATGCTGTGGGAGCACCCCATGGTCATTCCCACACCTCCCCTGCTCTAAGTGAGAGATGCTGCTACCTCTGAGATGAAAATGCCTTGCCCCTTTCCATATCCCTAACCCAGCTCATCCTTCCCTTCTTTGCAAATGCCCTCTTCTTCACCTGGCAAACTCCTACTCATCCTCCAAAGCACAGCTCCCGTGACCCATCCTCTAGGAAGCATCTCCCCACCCCTCAGTCATCATCTTCACCCACGGCTAAGGGTTGTGACTCTCTTTGTCTGTCTCCCCCTCCAGCCTGATTGCTCCTTGAAGACAGGCGGTGGGTTGGTTCTGTGTCATAAACACCCCCACCACACATTTGGTTTGCATTCTGGCCTTGGGAAATGTTTGTTGAATGAATGAATGAATGAATGCTGATTCCTTATATTTTCCTACTAATTACTATTCTCTCTCACATTTCTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTCCTCTGCCACCCAGGCTGAAGTGCTGTGGCACAATCTCAGCTCACTGCAGCCTCCACCTCTGAGGTTCAAACGATTCTCCTTCCTCAGGGTCCCGAGTAGCTGGGACTACAGGTGCGCACCACCATGCCCGGATAATTTTTGTATTTTTAGTAGAGACGGCATTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCCCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCGCCCAGCCTACTCTTTCATTTATTTTATACTACTTGCTTATATCTGAAAATGTCCTATTTACTTGTTTTTAACTTATTTATAATGTCTGTCTCTCCTCAGTAAATCCTTAGCTCTCAAGGACAAGCACCTTGCTTTCTCATTCACCACTGTGTCCCCAGCACCTACACCTGGTGCATAATAGGTGCCCAATAAATGCGTGAAATGAATTAATGTTGAGCACCGGGGCCATTCTTCTCTTGTGCTTTGCCCAGGGATGGCCCCTCAGGAAAGATAATAATAATCTCTTCATCCTTTAGCAACGGCTAACTATATGCCAGGCTCGCTACCCAGGTGTGATGTTGTTTATTCCTCCAGAGCCCTACTCTATAAGTACCATTTTTATGCTTCTTTTTCAAGTGAAGAAATGGAGGCCCAGAGAGGTAAAGTGACTTGCCCGAAGTCTCATAATTAGAAACAGGGCTGGAGTCAGAATCCAAGCTCCAAGGCCCACGCTCCTAACTGCTTGGCTATTCTGTCTGCTGGAGCACCTGGGAAATGGTGCACCTCAAACCTTGCATCTTGCCATTGAAAAGTAAAAAGTCTAGGATCTTTGTAAAACCCAGTCTTCTGCCTTGTAGAAGCCTCGGTGAGAGAAATTCCTGGCTGTTTCTCCATGGATTTTATGGGTTATGCCTTTCTGTCCCCCGCCTCAAATGTTTATGTTGAAATTGTAACTAGTGCCTTAGAATGGTAACTTATTTGGCAATAGAGTCTTTGCAAATATAATTAGTTAAGACGAGATCATGCTAGAGTAGGGTGGGGCTCTAATCCAAAGACTGGGCTGGGTGTGGTGGCTCCTGCCCAGTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAAAATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCTTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATTCCACTGCCCTCCAGCCTGGGTGGCAGAGCGAGACTCCAACTCAAAAACAAAACAAAACATAAAACAAAGACTGCCGTCCTTATAAAAAG
GGCCTGGAGTCTTCCTCCTGACCCAGTGCTGTGGGACTCATGTGGGACACCCTGTCATCTTCCACTCTATCTGCTGCCCACTCTGCCCCAGGCACTGACCTTCCCACCCCTTGCCCCCAGTACCTGCGAAGAACGTCATGAGCACTGCCACCCAGCCCAGGATGTAGGACCAGGAAAAGCGCCAGTCCCCAAAGCGGCGGCCCAGGAAGCTGACGGTGACTCCAGTGTAGATGGCCAAGGCCAACACGACGAAAAGGGCTGGGGAGAGAGGGCGGGAGGATGCAGGTGGGACTAAGGCTGGGTGTGATTTTGGAGGTGGGCAGAGAGCTGATGATGGGGGTGGGAACTAAGATTGGGGAAAGGGGTGGAAATGGGTTGGGGGTGGGGATAGGAGTGAGGATAGGGGTTGAGTTGAAATTAGGGGTAAAGATGATTGGGGGATAGGTTTGGGATGGGGTTGGACACGCTTGTGTTTTATAATGTAATTGGCCATTGTCTCTGGTTCCTGGGAGGGAGAAACAATATTTGGAACTTCCTGAGTAATAGGAGGGTCTTTGTTATTCTTGAGCCTCTTGGGCCCAACCTGAGTTTATGGTAATGAGATGAGATGACTCAGGGTTGGGTGTGGTTGTCAGAAAAACCAACCAGGTCAGGCACAGTGACTCATGCGTGTCATCCCAACACTTTGGGAGGCTGAGTAGGGTGGATCACTTGAGGTCAGGAGATCAAGATCAGCCTGGTCAACATGGTGAAACCCCGTCTCTACTAAAAATACAATAAAAAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGAGCCACTACACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAGGAGAACAAAAAAGAAAGAAAGAAAGACCGACCATGATATGTTGAGGCTCTGAACCACTTGATATCAGGGAAGAAAGGAAGTTGGAAACTGCATTCCATCAATGACCAACGATTCAATCAGTCATGCCTATTTTACAAGACTCCAATAAAACCTCTGGACACTGAAGCTCAGTGGCGCTCCCTATTGGTGAAAACATCTGTGTGCTGGGAGGGTGATCCCTGGCTCCACAGGAAGAAGGCTTGGAAGCTCTGCATTTTGGGCTCTCCTAGACTCTGCCCTCTGTGTCTCTTCATTTGCTTGGACCTGAGTTGTGTCCTCTATAAGGAAACTATAACTGTAAGTATAGCACTTTCCTGCATTCTATGAGTTATTCCAGCAATTTTTGTTGTTGTTATTGTTGTTGTTGTTTTTGTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCCCAGCTCACTGCAAGCTCCGCCTCCTGAGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGACACCACGCCTGGCTAATTTTGTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTAGTCTCAAACTCCTGACCTAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGAATTACGGGCGTGAGCCATCGCACCCGGCCTCCAGCAAATTTTTGAATCTGAGTGGGTCTTGGGAACCTCCTAGTTTGTAGCCAGTGGATCAAAAGCATGGGTGGCCCAGGCACCCTGCTTGCAGCTTGTAGCTGAGGTGGAAGCAGTCTTGCTAGGGACTGTGGTCTTAACCTGTGGAGTCAAACACAAATTTTAGGTGATTCATGCCAGAACTGAACTGTAGTACACCAGCTAGTGTCAGAATAGACTGGAACTAGAAATAGTCATGAGGTTGGTTTTGAGTGTGGGGATGGGATTAGGGTGGGGTGGGGTTGAGTGTGAGGAGGAGTAAGGGGTGAGAATGGTGTTGAGGGGTGGGGACAGATTGGGGTTTGAGATGAGAGCGAGGAGAGGGGTAGGGAGAGGGTGGGCTTACTCACTTGAGGAAAAAACCATGATGCCAGCAGAGAAGGGCCGGGAGATGCGGGAGAAGGTAGGCTGATGAGCGAAGGCCATGATGCCCATGATGATGCCGGAGATGGCGCATAGGGCAGACAGGATCATGAAGGCCCGGGTGGCATTCCAGTATGCTGTGGGAGCACCCCATGGTCATTCCCACACCTCCCCTGCTCTAAGTGAGAGATGCTGCTACCTCTGAGATGAAAATGCCTTGCCCCTTTCCATATCCCTAACCCAGCTCATCCTTCCCTTCTTTGCAAATGCCCTCTTCTTCACCTGGCAAACTCCTACTCATCCTCCAAAGCACAGCTCCCGTGACCCATCCTCTAGGAAGCATCTCCCCACCCCTCAGTCATCATCTTCACCCACGGCTAAGGGTTGTGACTCTCTTTGTCTGTCTCCCCCTCCAGCCTGATTGCTCCTTGAAGACAGGCGGTGGGTTGGTTCTGTGTCATAAACACCCCCACCACACATTTGGTTTGCATTCTGGCCTTGGGAAATGTTTGTTGAATGAATGAATGAATGAATGCTGATTCCTTATATTTTCCTACTAATTACTATTCTCTCTCACATTTCTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTTCCTCTGCCACCCAGGCTGAAGTGCTGTGGCACAATCTCAGCTCACTGCAGCCTCCACCTCTGAGGTTCAAACGATTCTCCTTCCTCAGGGTCCCGAGTAGCTGGGACTACAGGTGCGCACCACCATGCCCGGATAATTTTTGTATTTTTAGTAGAGACGGCATTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCCCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCGCCCAGCCTACTCTTTCATTTATTTTATACTACTTGCTTATATCTGAAAATGTCCTATTTACTTGTTTTTAACTTATTTATAATGTCTGTCTCTCCTCAGTAAATCCTTAGCTCTCAAGGACAAGCACCTTGCTTTCTCATTCACCACTGTGTCCCCAGCACCTACACCTGGTGCATAATAGGTGCCCAATAAATGCGTGAAATGAATTAATGTTGAGCACCGGGGCCATTCTTCTCTTGTGCTTTGCCCAGGGATGGCCCCTCAGGAAAGATAATAATAATCTCTTCATCCTTTAGCAACGGCTAACTATATGCCAGGCTCGCTACCCAGGTGTGATGTTGTTTATTCCTCCAGAGCCCTACTCTATAAGTACCATTTTTATGCTTCTTTTTCAAGTGAAGAAATGGAGGCCCAGAGAGGTAAAGTGACTTGCCCGAAGTCTCATAATTAGAAACAGGGCTGGAGTCAGAATCCAAGCTCCAAGGCCCACGCTCCTAACTGCTTGGCTATTCTGTCTGCTGGAGCACCTGGGAAATGGTGCACCTCAAACCTTGCATCTTGCCATTGAAAAGTAAAAAGTCTAGGATCTTTGTAAAACCCAGTCTTCTGCCTTGTAGAAGCCTCGGTGAGAGAAATTCCTGGCTGTTTCTCCATGGATTTTATGGGTTATGCCTTTCTGTCCCCCGCCTCAAATGTTTATGTTGAAATTGTAACTAGTGCCTTAGAATGGTAACTTATTTGGCAATAGAGTCTTTGCAAATATAATTAGTTAAGACGAGATCATGCTAGAGTAGGGTGGGGCTCTAATCCAAAGACTGGGCTGGGTGTGGTGGCTCCTGCCCAGTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAAAATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCTTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATTCCACTGCCCTCCAGCCTGGGTGGCAGAGCGAGACTCCAACTCAAAAACAAAACAAAACATAAAACAAAGACTGCCGTCCTTATAAAAAG
Task1_train_27498
The gene PPP2R1A (protein phosphatase 2 scaffold subunit Aalpha) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; PPP2R1A-related neurodevelopmental disorders
TTTTAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCTTCAGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCGTTTTCTCTTCTTTAAAATCAGGACTTGCTTTATAGAATTCAGTGAGGAAGAACAAGCACCCCTGGTACAACACGGAGGTCCTGCCTAGTACACACAGTGAGTAGATGTTCTACACAGTGTCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATGGACCCCAGTGAAACTCCTTCAAGGACCCCTAAATAAGAACCTTTGTGGAAGGCACGCTGACAGAGACCTTCTGCTGGCTGGCATAATATTACGTTTTTCCTTTGAGTCATTCATTGCAACCATTTTTAAAGGCTATTTTAATGAAGGTCGGGATGGGTAATAGGGAAGTTTTCTCTGAGGAGATGAGCCCATGATGGGGTGCAGGATGGGGCTCCAGGGCTGCGGATGGTGGAGAGGGAGCTGTCCAGTGACTTTGTGTTCTCACCACAGCCACCGCTGGAGTCGCTGGCCACAGTGGAGGAGACAGTGGTGCGGGACAAGGCAGTGGAGTCCTTACGGGCCATCTCACACGAGCACTCGCCCTCTGACCTGGAGGCGCACTTTGTGCCGCTAGTGAAGCGGCTGGCGGGCGGCGACTGGTTCACCTCCCGCACCTCGGCCTGCGGCCTCTTCTCCGTCTGCTACCCCCGAGTGTCCAGTGCTGTGAAGGCGGAACTTCGACAGTGAGTCTCTGCCTCCTTGGAAGCTCCAAGCTCCCATCTCAGCTCCAACCTTCTCTAAAGCCTCAGACTCCTTTTGGTCTAGCTGGGGCCCAAATGCCCCTGAACTCTCTCCACTCCCACTCCTGCTTACCACCTGATAGGCCACATCCTCGAGAGTTGGTCTCTGGACACGGCCACGTGTCAGTTTACCCACCTCTGCCCCCTTGCTCACTTAGGAATTGAGATGATGACAGGTCCTCCTTCCCACTGGTTAATGTGAGGATTTAAAAGAATTATCACACATAAAGTGCTTAGAGCAAAATCTGGAACATAAAAACTTTCAGCAACTTACATCTGATGGTATCTCCAGCCTGTCCCAGGTCCAGTGCCTTTGGCAGATAAACCACCTCAGTTTTCAGCCTCCTGCTCGTCTACTTTGCAAACGATTGACCGTCAAGCCCGGGTTTGAGCCTGACTCACTCCAGAACTCTGGTTTATGGCTGTACACTTGCTTAGATACTTACACTGGCCCCCACCGCCTTTGATCGAAGCAATTGCTGCTGAAAAATAAAGCCTTTCTGTGGCTCTAGACCTGCCTCTTAGTTAAGCAGTTTTTTGTTTGTTTGTTTTTTGAGATAGGATCTCGCTCTGTCATCCAGGCTGAAGTGCACTGGTGCAGTCATAGCCCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCTGCCTTAGCCTCTCAAATAGCTGGGACCACAGGTGTGCAACACCACGCTGGGCTCATTTTTTATTTTTGGCAGAGATGGGGTCTCACTATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGTCTTCCAAAGTGTTCAGATTACAGGTATGAGCCACTGTGCCTGGCTCGTTGGTTAAGCAATTTTTATGGGAATGATGTAATCGTCAGCACTTAGCATTGACTAGATTTATTATGCGCAATCTGCGAAGTGTCTCACACACACTATTTTCATTTAAACCTCATGCGGACCTGTGGGGTAGGTACTGTTACTATCAGCTCCGTTTCATAGGGCTGGGAAGACAGAGAGGGGGTCATCACTTGCCCAAGGTCATTCAGCTAAAACCTGGACCCACACAACTGCAGAGTCTGTGCTTGCTCCTCTCTGCCATACTGCCTGCTGCCTCAGGATCCCCGTCCCCGACTCCCAGGTACTTCCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGGGGAGTTTGCCAAGGTGCTGGAGCTGGACAACGTCAAGAGTGAGATCATCCCCATGTTCTCCAACCTGGCCTCTGACGAGCAGGTGAGTTTTGCTTCCTGGCCCTCTGCTCTCCCGTCCTTCTGGTGGTTCCTGCCCATGAAAGAGAATCCCAGAGCTCAGCAAGGCCTCTGCTGCCCTCCCACTGTTCCTCTCCTCTCCCTAGGACTCGGTGCGGCTGCTGGCGGTGGAGGCGTGCGTGAACATCGCCCAGCTTCTGCCCCAGGAGGATCTGGAGGCCCTGGTGATGCCCACTCTGCGCCAGGCCGCTGAAGACAAGTCCTGGCGCGTCCGCTACATGGTGGCTGACAAGTTCACAGAGGTAGATGAGCGACCGTTGACATTGTCCCACTGGTGGGGACACTGACACTCTCAGAAGGGAAGCATATAGGAGCTGAGGTTTCCATTAGGCCGATGGAACCATTGGGCGTTTGAGCAATAAGATCTCTATGATCATCTAACTGCGTCTCGCTTCGTGTGCCAATCCTGGTTGATTGACATGGCATCTTAAAGTGCTGCCTTGAGAAAGATTCTGAGGCAAAGTTAAGGCTACGTGGAGGAAAGTGCCACAGGAGCAGAGAAGGGTAGCACATGTGGGGTGTTCCTGACATAATCAAGCTGTCCTTTCACAAAGGGGAAGACAGCCCAAAAAGGTGGGGTTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTGTCGCCCAGGCTAGAGTCTTGTTACCCAGCTGGAGTGTGGTGGCGCAATCTTGGCTCACTGCAGCCTGTCCCTCCCGGGTGCAGGCATTTCTCCTGCCTCAGCCTCCTGAGGGACTGGGATTACAGATGCCCACCACGACACCCGGCTAGTTTTTGTATTTTTATTAGAGACGGGGTTTCACCATGTTGTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAAGCGATCCGCCTGCCTTCATCTCCCAAAGTGCTGGGATTACAGGTGTTAGCCACCGCGCCCAGCCCCGGAAAGTTTAATTAACTGATCAGAGTGACACTACCAGCCAGGCAGAAAGGGGACAAGACTCCAGGTCTGTGACTCTCAGGACAGTGCTCCTTCCACAGGGATCCAGATTGCCTCATCCCACAAACATGTTTGCTGAGCACCAGCTATTTGCTGGGCCAGTGAATTCGGATCATTCCTGGCCTTCATGGAGCTAGGCAGTCTGAAGGGGAAGACTGACTTAGGGGAAATTTGATTATAAAGTGTCACAGGTGTGGGACAGACAGACAGATGTGGGGCCTTGGAAGCATTGAGGAGGGGAGGTGGTGTTACAGCTGGTTCTAGAAGATGAGTGGGTAAGAGCTAAGATAGGAACTTTGTTCCAGCCAGAGGACAAAGAACCCTGGGAGGTGAGAGCAAGTGCAAGCAGGAACATTCAGGCCTGATCTTGATGGCCCAGCCTGAGAGAAAGCAGGAGAGAGGGCAGGGTGGGATCGGAGAGAGGGCAGGGTGGGATCAGAGAGGCCTTGAGTGCCACTCCACCCTGAGGCGCCCTTTGCCTTTAATTATGCTGGTTCCCACTGGCATTTGCGGGAAGGACTCAGAGCTTCAGAATAGCGTACCATCACCACAGTTAGGGAAGGTTCTTCCCATCCTTGTCTCCTGAGCTGCATAAACTGTGTCACACTGGGTCTTAGAATAAAAATTCCATGAGGGCAGGAATTTTAGGCTGTTAAACCAGTTCTTGGCACATAGTAGACATTCAGTAAATATTTGCAAGATGAATAAAAGGCAGTATTTTCCCAAGATATCATGAGGTCCTTCAAGATTTTTACTTGTTCATTCCCGTCTTCATAATGAACTGTCCTGCTTCCTACCAGGTCTTCAGGAACCAGCTTTGCAGCAGGAGCCGTGCGTCTTTCCATGCCTGGTGCCATGAAACAGGCAGGGCCAAGCGTGCCTCCCTTTTTTTTTTTTTTTAAGACAGAGTCTCAGTCTTTT
TTTTAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCTTCAGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCGTTTTCTCTTCTTTAAAATCAGGACTTGCTTTATAGAATTCAGTGAGGAAGAACAAGCACCCCTGGTACAACACGGAGGTCCTGCCTAGTACACACAGTGAGTAGATGTTCTACACAGTGTCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATGGACCCCAGTGAAACTCCTTCAAGGACCCCTAAATAAGAACCTTTGTGGAAGGCACGCTGACAGAGACCTTCTGCTGGCTGGCATAATATTACGTTTTTCCTTTGAGTCATTCATTGCAACCATTTTTAAAGGCTATTTTAATGAAGGTCGGGATGGGTAATAGGGAAGTTTTCTCTGAGGAGATGAGCCCATGATGGGGTGCAGGATGGGGCTCCAGGGCTGCGGATGGTGGAGAGGGAGCTGTCCAGTGACTTTGTGTTCTCACCACAGCCACCGCTGGAGTCGCTGGCCACAGTGGAGGAGACAGTGGTGCGGGACAAGGCAGTGGAGTCCTTACGGGCCATCTCACACGAGCACTCGCCCTCTGACCTGGAGGCGCACTTTGTGCCGCTAGTGAAGCGGCTGGCGGGCGGCGACTGGTTCACCTCCCGCACCTCGGCCTGCGGCCTCTTCTCCGTCTGCTACCCCCGAGTGTCCAGTGCTGTGAAGGCGGAACTTCGACAGTGAGTCTCTGCCTCCTTGGAAGCTCCAAGCTCCCATCTCAGCTCCAACCTTCTCTAAAGCCTCAGACTCCTTTTGGTCTAGCTGGGGCCCAAATGCCCCTGAACTCTCTCCACTCCCACTCCTGCTTACCACCTGATAGGCCACATCCTCGAGAGTTGGTCTCTGGACACGGCCACGTGTCAGTTTACCCACCTCTGCCCCCTTGCTCACTTAGGAATTGAGATGATGACAGGTCCTCCTTCCCACTGGTTAATGTGAGGATTTAAAAGAATTATCACACATAAAGTGCTTAGAGCAAAATCTGGAACATAAAAACTTTCAGCAACTTACATCTGATGGTATCTCCAGCCTGTCCCAGGTCCAGTGCCTTTGGCAGATAAACCACCTCAGTTTTCAGCCTCCTGCTCGTCTACTTTGCAAACGATTGACCGTCAAGCCCGGGTTTGAGCCTGACTCACTCCAGAACTCTGGTTTATGGCTGTACACTTGCTTAGATACTTACACTGGCCCCCACCGCCTTTGATCGAAGCAATTGCTGCTGAAAAATAAAGCCTTTCTGTGGCTCTAGACCTGCCTCTTAGTTAAGCAGTTTTTTGTTTGTTTGTTTTTTGAGATAGGATCTCGCTCTGTCATCCAGGCTGAAGTGCACTGGTGCAGTCATAGCCCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCTGCCTTAGCCTCTCAAATAGCTGGGACCACAGGTGTGCAACACCACGCTGGGCTCATTTTTTATTTTTGGCAGAGATGGGGTCTCACTATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGTCTTCCAAAGTGTTCAGATTACAGGTATGAGCCACTGTGCCTGGCTCGTTGGTTAAGCAATTTTTATGGGAATGATGTAATCGTCAGCACTTAGCATTGACTAGATTTATTATGCGCAATCTGCGAAGTGTCTCACACACACTATTTTCATTTAAACCTCATGCGGACCTGTGGGGTAGGTACTGTTACTATCAGCTCCGTTTCATAGGGCTGGGAAGACAGAGAGGGGGTCATCACTTGCCCAAGGTCATTCAGCTAAAACCTGGACCCACACAACTGCAGAGTCTGTGCTTGCTCCTCTCTGCCATACTGCCTGCTGCCTCAGGATCCCCGTCCCCGACTCCCAGGTACTTCCGGAACCTGTGCTCAGATGACACCCTCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGGGGAGTTTGCCAAGGTGCTGGAGCTGGACAACGTCAAGAGTGAGATCATCCCCATGTTCTCCAACCTGGCCTCTGACGAGCAGGTGAGTTTTGCTTCCTGGCCCTCTGCTCTCCCGTCCTTCTGGTGGTTCCTGCCCATGAAAGAGAATCCCAGAGCTCAGCAAGGCCTCTGCTGCCCTCCCACTGTTCCTCTCCTCTCCCTAGGACTCGGTGCGGCTGCTGGCGGTGGAGGCGTGCGTGAACATCGCCCAGCTTCTGCCCCAGGAGGATCTGGAGGCCCTGGTGATGCCCACTCTGCGCCAGGCCGCTGAAGACAAGTCCTGGCGCGTCCGCTACATGGTGGCTGACAAGTTCACAGAGGTAGATGAGCGACCGTTGACATTGTCCCACTGGTGGGGACACTGACACTCTCAGAAGGGAAGCATATAGGAGCTGAGGTTTCCATTAGGCCGATGGAACCATTGGGCGTTTGAGCAATAAGATCTCTATGATCATCTAACTGCGTCTCGCTTCGTGTGCCAATCCTGGTTGATTGACATGGCATCTTAAAGTGCTGCCTTGAGAAAGATTCTGAGGCAAAGTTAAGGCTACGTGGAGGAAAGTGCCACAGGAGCAGAGAAGGGTAGCACATGTGGGGTGTTCCTGACATAATCAAGCTGTCCTTTCACAAAGGGGAAGACAGCCCAAAAAGGTGGGGTTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTGTCGCCCAGGCTAGAGTCTTGTTACCCAGCTGGAGTGTGGTGGCGCAATCTTGGCTCACTGCAGCCTGTCCCTCCCGGGTGCAGGCATTTCTCCTGCCTCAGCCTCCTGAGGGACTGGGATTACAGATGCCCACCACGACACCCGGCTAGTTTTTGTATTTTTATTAGAGACGGGGTTTCACCATGTTGTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAAGCGATCCGCCTGCCTTCATCTCCCAAAGTGCTGGGATTACAGGTGTTAGCCACCGCGCCCAGCCCCGGAAAGTTTAATTAACTGATCAGAGTGACACTACCAGCCAGGCAGAAAGGGGACAAGACTCCAGGTCTGTGACTCTCAGGACAGTGCTCCTTCCACAGGGATCCAGATTGCCTCATCCCACAAACATGTTTGCTGAGCACCAGCTATTTGCTGGGCCAGTGAATTCGGATCATTCCTGGCCTTCATGGAGCTAGGCAGTCTGAAGGGGAAGACTGACTTAGGGGAAATTTGATTATAAAGTGTCACAGGTGTGGGACAGACAGACAGATGTGGGGCCTTGGAAGCATTGAGGAGGGGAGGTGGTGTTACAGCTGGTTCTAGAAGATGAGTGGGTAAGAGCTAAGATAGGAACTTTGTTCCAGCCAGAGGACAAAGAACCCTGGGAGGTGAGAGCAAGTGCAAGCAGGAACATTCAGGCCTGATCTTGATGGCCCAGCCTGAGAGAAAGCAGGAGAGAGGGCAGGGTGGGATCGGAGAGAGGGCAGGGTGGGATCAGAGAGGCCTTGAGTGCCACTCCACCCTGAGGCGCCCTTTGCCTTTAATTATGCTGGTTCCCACTGGCATTTGCGGGAAGGACTCAGAGCTTCAGAATAGCGTACCATCACCACAGTTAGGGAAGGTTCTTCCCATCCTTGTCTCCTGAGCTGCATAAACTGTGTCACACTGGGTCTTAGAATAAAAATTCCATGAGGGCAGGAATTTTAGGCTGTTAAACCAGTTCTTGGCACATAGTAGACATTCAGTAAATATTTGCAAGATGAATAAAAGGCAGTATTTTCCCAAGATATCATGAGGTCCTTCAAGATTTTTACTTGTTCATTCCCGTCTTCATAATGAACTGTCCTGCTTCCTACCAGGTCTTCAGGAACCAGCTTTGCAGCAGGAGCCGTGCGTCTTTCCATGCCTGGTGCCATGAAACAGGCAGGGCCAAGCGTGCCTCCCTTTTTTTTTTTTTTTAAGACAGAGTCTCAGTCTTTT
Task1_train_27499
This genomic variant is located on Chromosome 19, within the PPP2R1A (protein phosphatase 2 scaffold subunit Aalpha) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Inborn genetic diseases
TTTTAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCTTCAGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCGTTTTCTCTTCTTTAAAATCAGGACTTGCTTTATAGAATTCAGTGAGGAAGAACAAGCACCCCTGGTACAACACGGAGGTCCTGCCTAGTACACACAGTGAGTAGATGTTCTACACAGTGTCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATGGACCCCAGTGAAACTCCTTCAAGGACCCCTAAATAAGAACCTTTGTGGAAGGCACGCTGACAGAGACCTTCTGCTGGCTGGCATAATATTACGTTTTTCCTTTGAGTCATTCATTGCAACCATTTTTAAAGGCTATTTTAATGAAGGTCGGGATGGGTAATAGGGAAGTTTTCTCTGAGGAGATGAGCCCATGATGGGGTGCAGGATGGGGCTCCAGGGCTGCGGATGGTGGAGAGGGAGCTGTCCAGTGACTTTGTGTTCTCACCACAGCCACCGCTGGAGTCGCTGGCCACAGTGGAGGAGACAGTGGTGCGGGACAAGGCAGTGGAGTCCTTACGGGCCATCTCACACGAGCACTCGCCCTCTGACCTGGAGGCGCACTTTGTGCCGCTAGTGAAGCGGCTGGCGGGCGGCGACTGGTTCACCTCCCGCACCTCGGCCTGCGGCCTCTTCTCCGTCTGCTACCCCCGAGTGTCCAGTGCTGTGAAGGCGGAACTTCGACAGTGAGTCTCTGCCTCCTTGGAAGCTCCAAGCTCCCATCTCAGCTCCAACCTTCTCTAAAGCCTCAGACTCCTTTTGGTCTAGCTGGGGCCCAAATGCCCCTGAACTCTCTCCACTCCCACTCCTGCTTACCACCTGATAGGCCACATCCTCGAGAGTTGGTCTCTGGACACGGCCACGTGTCAGTTTACCCACCTCTGCCCCCTTGCTCACTTAGGAATTGAGATGATGACAGGTCCTCCTTCCCACTGGTTAATGTGAGGATTTAAAAGAATTATCACACATAAAGTGCTTAGAGCAAAATCTGGAACATAAAAACTTTCAGCAACTTACATCTGATGGTATCTCCAGCCTGTCCCAGGTCCAGTGCCTTTGGCAGATAAACCACCTCAGTTTTCAGCCTCCTGCTCGTCTACTTTGCAAACGATTGACCGTCAAGCCCGGGTTTGAGCCTGACTCACTCCAGAACTCTGGTTTATGGCTGTACACTTGCTTAGATACTTACACTGGCCCCCACCGCCTTTGATCGAAGCAATTGCTGCTGAAAAATAAAGCCTTTCTGTGGCTCTAGACCTGCCTCTTAGTTAAGCAGTTTTTTGTTTGTTTGTTTTTTGAGATAGGATCTCGCTCTGTCATCCAGGCTGAAGTGCACTGGTGCAGTCATAGCCCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCTGCCTTAGCCTCTCAAATAGCTGGGACCACAGGTGTGCAACACCACGCTGGGCTCATTTTTTATTTTTGGCAGAGATGGGGTCTCACTATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGTCTTCCAAAGTGTTCAGATTACAGGTATGAGCCACTGTGCCTGGCTCGTTGGTTAAGCAATTTTTATGGGAATGATGTAATCGTCAGCACTTAGCATTGACTAGATTTATTATGCGCAATCTGCGAAGTGTCTCACACACACTATTTTCATTTAAACCTCATGCGGACCTGTGGGGTAGGTACTGTTACTATCAGCTCCGTTTCATAGGGCTGGGAAGACAGAGAGGGGGTCATCACTTGCCCAAGGTCATTCAGCTAAAACCTGGACCCACACAACTGCAGAGTCTGTGCTTGCTCCTCTCTGCCATACTGCCTGCTGCCTCAGGATCCCCGTCCCCGACTCCCAGGTACTTCCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGGGGAGTTTGCCAAGGTGCTGGAGCTGGACAACGTCAAGAGTGAGATCATCCCCATGTTCTCCAACCTGGCCTCTGACGAGCAGGTGAGTTTTGCTTCCTGGCCCTCTGCTCTCCCGTCCTTCTGGTGGTTCCTGCCCATGAAAGAGAATCCCAGAGCTCAGCAAGGCCTCTGCTGCCCTCCCACTGTTCCTCTCCTCTCCCTAGGACTCGGTGCGGCTGCTGGCGGTGGAGGCGTGCGTGAACATCGCCCAGCTTCTGCCCCAGGAGGATCTGGAGGCCCTGGTGATGCCCACTCTGCGCCAGGCCGCTGAAGACAAGTCCTGGCGCGTCCGCTACATGGTGGCTGACAAGTTCACAGAGGTAGATGAGCGACCGTTGACATTGTCCCACTGGTGGGGACACTGACACTCTCAGAAGGGAAGCATATAGGAGCTGAGGTTTCCATTAGGCCGATGGAACCATTGGGCGTTTGAGCAATAAGATCTCTATGATCATCTAACTGCGTCTCGCTTCGTGTGCCAATCCTGGTTGATTGACATGGCATCTTAAAGTGCTGCCTTGAGAAAGATTCTGAGGCAAAGTTAAGGCTACGTGGAGGAAAGTGCCACAGGAGCAGAGAAGGGTAGCACATGTGGGGTGTTCCTGACATAATCAAGCTGTCCTTTCACAAAGGGGAAGACAGCCCAAAAAGGTGGGGTTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTGTCGCCCAGGCTAGAGTCTTGTTACCCAGCTGGAGTGTGGTGGCGCAATCTTGGCTCACTGCAGCCTGTCCCTCCCGGGTGCAGGCATTTCTCCTGCCTCAGCCTCCTGAGGGACTGGGATTACAGATGCCCACCACGACACCCGGCTAGTTTTTGTATTTTTATTAGAGACGGGGTTTCACCATGTTGTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAAGCGATCCGCCTGCCTTCATCTCCCAAAGTGCTGGGATTACAGGTGTTAGCCACCGCGCCCAGCCCCGGAAAGTTTAATTAACTGATCAGAGTGACACTACCAGCCAGGCAGAAAGGGGACAAGACTCCAGGTCTGTGACTCTCAGGACAGTGCTCCTTCCACAGGGATCCAGATTGCCTCATCCCACAAACATGTTTGCTGAGCACCAGCTATTTGCTGGGCCAGTGAATTCGGATCATTCCTGGCCTTCATGGAGCTAGGCAGTCTGAAGGGGAAGACTGACTTAGGGGAAATTTGATTATAAAGTGTCACAGGTGTGGGACAGACAGACAGATGTGGGGCCTTGGAAGCATTGAGGAGGGGAGGTGGTGTTACAGCTGGTTCTAGAAGATGAGTGGGTAAGAGCTAAGATAGGAACTTTGTTCCAGCCAGAGGACAAAGAACCCTGGGAGGTGAGAGCAAGTGCAAGCAGGAACATTCAGGCCTGATCTTGATGGCCCAGCCTGAGAGAAAGCAGGAGAGAGGGCAGGGTGGGATCGGAGAGAGGGCAGGGTGGGATCAGAGAGGCCTTGAGTGCCACTCCACCCTGAGGCGCCCTTTGCCTTTAATTATGCTGGTTCCCACTGGCATTTGCGGGAAGGACTCAGAGCTTCAGAATAGCGTACCATCACCACAGTTAGGGAAGGTTCTTCCCATCCTTGTCTCCTGAGCTGCATAAACTGTGTCACACTGGGTCTTAGAATAAAAATTCCATGAGGGCAGGAATTTTAGGCTGTTAAACCAGTTCTTGGCACATAGTAGACATTCAGTAAATATTTGCAAGATGAATAAAAGGCAGTATTTTCCCAAGATATCATGAGGTCCTTCAAGATTTTTACTTGTTCATTCCCGTCTTCATAATGAACTGTCCTGCTTCCTACCAGGTCTTCAGGAACCAGCTTTGCAGCAGGAGCCGTGCGTCTTTCCATGCCTGGTGCCATGAAACAGGCAGGGCCAAGCGTGCCTCCCTTTTTTTTTTTTTTTAAGACAGAGTCTCAGTCTTTT
TTTTAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCTTCAGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCGTTTTCTCTTCTTTAAAATCAGGACTTGCTTTATAGAATTCAGTGAGGAAGAACAAGCACCCCTGGTACAACACGGAGGTCCTGCCTAGTACACACAGTGAGTAGATGTTCTACACAGTGTCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATGGACCCCAGTGAAACTCCTTCAAGGACCCCTAAATAAGAACCTTTGTGGAAGGCACGCTGACAGAGACCTTCTGCTGGCTGGCATAATATTACGTTTTTCCTTTGAGTCATTCATTGCAACCATTTTTAAAGGCTATTTTAATGAAGGTCGGGATGGGTAATAGGGAAGTTTTCTCTGAGGAGATGAGCCCATGATGGGGTGCAGGATGGGGCTCCAGGGCTGCGGATGGTGGAGAGGGAGCTGTCCAGTGACTTTGTGTTCTCACCACAGCCACCGCTGGAGTCGCTGGCCACAGTGGAGGAGACAGTGGTGCGGGACAAGGCAGTGGAGTCCTTACGGGCCATCTCACACGAGCACTCGCCCTCTGACCTGGAGGCGCACTTTGTGCCGCTAGTGAAGCGGCTGGCGGGCGGCGACTGGTTCACCTCCCGCACCTCGGCCTGCGGCCTCTTCTCCGTCTGCTACCCCCGAGTGTCCAGTGCTGTGAAGGCGGAACTTCGACAGTGAGTCTCTGCCTCCTTGGAAGCTCCAAGCTCCCATCTCAGCTCCAACCTTCTCTAAAGCCTCAGACTCCTTTTGGTCTAGCTGGGGCCCAAATGCCCCTGAACTCTCTCCACTCCCACTCCTGCTTACCACCTGATAGGCCACATCCTCGAGAGTTGGTCTCTGGACACGGCCACGTGTCAGTTTACCCACCTCTGCCCCCTTGCTCACTTAGGAATTGAGATGATGACAGGTCCTCCTTCCCACTGGTTAATGTGAGGATTTAAAAGAATTATCACACATAAAGTGCTTAGAGCAAAATCTGGAACATAAAAACTTTCAGCAACTTACATCTGATGGTATCTCCAGCCTGTCCCAGGTCCAGTGCCTTTGGCAGATAAACCACCTCAGTTTTCAGCCTCCTGCTCGTCTACTTTGCAAACGATTGACCGTCAAGCCCGGGTTTGAGCCTGACTCACTCCAGAACTCTGGTTTATGGCTGTACACTTGCTTAGATACTTACACTGGCCCCCACCGCCTTTGATCGAAGCAATTGCTGCTGAAAAATAAAGCCTTTCTGTGGCTCTAGACCTGCCTCTTAGTTAAGCAGTTTTTTGTTTGTTTGTTTTTTGAGATAGGATCTCGCTCTGTCATCCAGGCTGAAGTGCACTGGTGCAGTCATAGCCCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCTGCCTTAGCCTCTCAAATAGCTGGGACCACAGGTGTGCAACACCACGCTGGGCTCATTTTTTATTTTTGGCAGAGATGGGGTCTCACTATGTTGCTCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGTCTTCCAAAGTGTTCAGATTACAGGTATGAGCCACTGTGCCTGGCTCGTTGGTTAAGCAATTTTTATGGGAATGATGTAATCGTCAGCACTTAGCATTGACTAGATTTATTATGCGCAATCTGCGAAGTGTCTCACACACACTATTTTCATTTAAACCTCATGCGGACCTGTGGGGTAGGTACTGTTACTATCAGCTCCGTTTCATAGGGCTGGGAAGACAGAGAGGGGGTCATCACTTGCCCAAGGTCATTCAGCTAAAACCTGGACCCACACAACTGCAGAGTCTGTGCTTGCTCCTCTCTGCCATACTGCCTGCTGCCTCAGGATCCCCGTCCCCGACTCCCAGGTACTTCCGGAACCTGTGCTCAGATGACACCCTCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGGGGAGTTTGCCAAGGTGCTGGAGCTGGACAACGTCAAGAGTGAGATCATCCCCATGTTCTCCAACCTGGCCTCTGACGAGCAGGTGAGTTTTGCTTCCTGGCCCTCTGCTCTCCCGTCCTTCTGGTGGTTCCTGCCCATGAAAGAGAATCCCAGAGCTCAGCAAGGCCTCTGCTGCCCTCCCACTGTTCCTCTCCTCTCCCTAGGACTCGGTGCGGCTGCTGGCGGTGGAGGCGTGCGTGAACATCGCCCAGCTTCTGCCCCAGGAGGATCTGGAGGCCCTGGTGATGCCCACTCTGCGCCAGGCCGCTGAAGACAAGTCCTGGCGCGTCCGCTACATGGTGGCTGACAAGTTCACAGAGGTAGATGAGCGACCGTTGACATTGTCCCACTGGTGGGGACACTGACACTCTCAGAAGGGAAGCATATAGGAGCTGAGGTTTCCATTAGGCCGATGGAACCATTGGGCGTTTGAGCAATAAGATCTCTATGATCATCTAACTGCGTCTCGCTTCGTGTGCCAATCCTGGTTGATTGACATGGCATCTTAAAGTGCTGCCTTGAGAAAGATTCTGAGGCAAAGTTAAGGCTACGTGGAGGAAAGTGCCACAGGAGCAGAGAAGGGTAGCACATGTGGGGTGTTCCTGACATAATCAAGCTGTCCTTTCACAAAGGGGAAGACAGCCCAAAAAGGTGGGGTTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTGTCGCCCAGGCTAGAGTCTTGTTACCCAGCTGGAGTGTGGTGGCGCAATCTTGGCTCACTGCAGCCTGTCCCTCCCGGGTGCAGGCATTTCTCCTGCCTCAGCCTCCTGAGGGACTGGGATTACAGATGCCCACCACGACACCCGGCTAGTTTTTGTATTTTTATTAGAGACGGGGTTTCACCATGTTGTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAAGCGATCCGCCTGCCTTCATCTCCCAAAGTGCTGGGATTACAGGTGTTAGCCACCGCGCCCAGCCCCGGAAAGTTTAATTAACTGATCAGAGTGACACTACCAGCCAGGCAGAAAGGGGACAAGACTCCAGGTCTGTGACTCTCAGGACAGTGCTCCTTCCACAGGGATCCAGATTGCCTCATCCCACAAACATGTTTGCTGAGCACCAGCTATTTGCTGGGCCAGTGAATTCGGATCATTCCTGGCCTTCATGGAGCTAGGCAGTCTGAAGGGGAAGACTGACTTAGGGGAAATTTGATTATAAAGTGTCACAGGTGTGGGACAGACAGACAGATGTGGGGCCTTGGAAGCATTGAGGAGGGGAGGTGGTGTTACAGCTGGTTCTAGAAGATGAGTGGGTAAGAGCTAAGATAGGAACTTTGTTCCAGCCAGAGGACAAAGAACCCTGGGAGGTGAGAGCAAGTGCAAGCAGGAACATTCAGGCCTGATCTTGATGGCCCAGCCTGAGAGAAAGCAGGAGAGAGGGCAGGGTGGGATCGGAGAGAGGGCAGGGTGGGATCAGAGAGGCCTTGAGTGCCACTCCACCCTGAGGCGCCCTTTGCCTTTAATTATGCTGGTTCCCACTGGCATTTGCGGGAAGGACTCAGAGCTTCAGAATAGCGTACCATCACCACAGTTAGGGAAGGTTCTTCCCATCCTTGTCTCCTGAGCTGCATAAACTGTGTCACACTGGGTCTTAGAATAAAAATTCCATGAGGGCAGGAATTTTAGGCTGTTAAACCAGTTCTTGGCACATAGTAGACATTCAGTAAATATTTGCAAGATGAATAAAAGGCAGTATTTTCCCAAGATATCATGAGGTCCTTCAAGATTTTTACTTGTTCATTCCCGTCTTCATAATGAACTGTCCTGCTTCCTACCAGGTCTTCAGGAACCAGCTTTGCAGCAGGAGCCGTGCGTCTTTCCATGCCTGGTGCCATGAAACAGGCAGGGCCAAGCGTGCCTCCCTTTTTTTTTTTTTTTAAGACAGAGTCTCAGTCTTTT