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_26300
With a mutation on Chromosome 19 in gene DOHH (deoxyhypusine hydroxylase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
ATGCCCCGGGGCAGGATCCAGCACTCCGGTGGAGAACATGGCTCAGTGGATAGTCGGTTCCCGTTGCGTTTTGCCTCCTGTCTTCTGGTTTTGGCCTCTCTGGCTGCAGACCAGGAGCTCTGCACCTGAGATTCTACCGCTATGCCTATTTTACAGAGAGGTAAGTGGGCTGTCCCCAGCCACACATGGAAGGGCTGCGGGAGCCGGCGGAGGAAGCCATGTCTGGGCTCTCAGCTGGACCACAGAACCCCTTCCACTGCACCCACAACAGGAGCTGGGGGAAGACGGGGGTCCGGGAAGGGCCAGGCTGGAGGGCTGTTTCCCCAGAGCCCACTTGGAGGGAGCTGGCTGGGCAGATCTGACCAGGTAACCGCACATAAAACAGGTGCAGGCCTGCCTGTCGCTGGTGGTGGCTCAGTGTCAGCAGCAGGACAGATCCTAGAGCCAATGGCTGCGGATACAACCGTCTCCCCGCCCAGACGCCACACACTCTCGGGGAACGTTCCCTGAAAGCCCCCACCCCTCCCTCCCTCCCACGCTCCCCTCACCCAACACACTCAGAGGAGTCAGTGCTTGGCAAAAATAATTTAATATTCCATCTGGGCAGCGCTCTGAGGTCTGCTTGTCCCTCCCTGGCCCCTGTGCCCTACCTGACCCACTCAGGGACCACCACCCTGTCCCTACCCAGGCCTCGGGGTGGGGGAGTCAGAGGCCCCCAGACCCTGTGTCCCATTCCTAGTGAAGCTGAAGCCACCATAACGTCAGCCTCTTCCCAGAGCCCCAGCTCTGCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTCCCCTCGCGATCCTCCCTTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCAATCCTCCCCTGTCCTGAGCCGGGCATCCCAGAGCCTCCCGCAGAGTCCCACCCCAAGCCTGGAAACTTCCACGCTACAGCCCTGCGCCAGGCCCCGAGGAGCAGTCAGGGGACTCAGGGAGTCACAGCACAACGGCAGCTCCTCGGTCCCAGACGGAGGAGGGGGACAGCAACCATGCGCCCAGCAAGACACAAGCGATGACACCGATTTACACACACCCGGTTTAGACGCCAAAGCTCTGCGGGGGAGGAGCGGCCCTCAAGAGTCCTCCGGGAGCTCCGGGTGAGGGTGGGGCCCTAGGAGGGGGCCCCGCGCAGCTGCTCCAGGCCGTCCGCGTACTGGAAGGCCCGCCCGGTCTCGTGCTCATACATGTCCAGAGCCACCTCGCAGCTCTCACGCACCACGCGCTCTGGGTCGTCCGCGTGAGCCTGCAGCGCGGCCAGGCAGGCGGGCCGGGCAATGGCGCCCAGGGCCTCCGCGCACTCGTGCCGCACCATGGGGTTCTCGGTGCATCGGGCCAGGGCGGCCGCCAGCTGGGGCACCGCCGCCTCGTGCTGCAGCTGTCCCAGGACGTAGCCGACCTCGTGGCGGAAGAGGGCGCTCCCACAGTGCAGACCTGCAGGGGAGAGGGACACTCGCTGGGGCCAGGAGGGGTGGGAAGGGGAGCTCTGTCTTTTCGAAGACATGGGGTCTTGCTATCTTGCCCAGGCAGGTCACAAAGTCCTGGCGATCTTCCCATCCCGGCCTCCCAAAGTGCTGGGACGACAGGCGTGAGCCACCACGCCCAACCTGGGGTGTTCTACCTTGAAGACACCCCTGCCCCCAGCCCCAGTGATTAGGGATGCCCGGGGGAACTGACCGCAGCTATGGGGGCGGGAAAAGCTGGGAGCTATGGGGACCAAGAGGGACGCTTGCACGGGTTCTTAAGAGGCCCCATGGGAAATGCTTGGGGCCAGGCCCGGGATGCCGTTCCCGGGGGCAGGCCGCGGCCCCACTGCACAGATGCCATCACTGAACCTCACAGCGAGGCACTGCCCAGGACCCCACCCCAGAAGCCCCTCCTCACCCTCGGCCAGCGCCAGGGCGGCCTCCTCGCCTCCCGCGTTGCGCAGGGCGAACATGGCGCGGTATCGCTCGAAGAGCGGCCGGGACTCATCCAGCAGCGCCTCCCGCAGGCGCCCCACGTCACGCTCCTCAGCCGGCGGGGCAGGGTCCACGGAGAGGTAGGGTCCCGCCGCCGGCTCCCCGCCGTGCTGCTGCAGCCACTCCAGCCTGCGCACGGCCAGCTGGCAGGTCTCGGCCACCTGCGGGGAGGGGGTATCAGGCAGCGGGTTGGCCCTGGGGGGTCGCAGGGGCCCTTCCCCACCCCCCGGGATGGCAGCTTAGCAGGGGAGAGAGACACTGGCAGGGTGACTAACCCATCATTCCAGGCAGGAAGTAAGCCAGCAGGGGTGGCTGACTTGTGAGTGACCGGGGGACTGGAGGGCTGGGGAGGGCCTCAGGGAGGAGGTGATGTGGAGGCAGAGACCTAAGCCAGCTTAGGGAGGGAATCAGGTGGAGACCCGGGGATGGGGAAGCAGCGGTGGAAAGGCCCTGAGGCAGGACCCTGCGGGAGGGGTGAGGGCCAAAGGAACATGTGCGGCCCCACCTGACCAGGTAAGGCCTGCGGGCCACTGTAAGGGCTTGGGATTTTGTCCTAAAGGTGATGAGATATCGTGAGAGCTTTAAGCATGGAACAGAACAGCAGAATTGAGTGTCACACGTACCCCCGGCTGCCCCGGAGGAGGAGAGACTGAGGGTCGGGGTGGGATGTGGACAAGAAGTGGCAGGGGAGAAAGGAACATGCATGTCCGTGGCGGCATAACTCATAACAGCTAAAAAGCAGAGACAATTCAAGCATCCAGCCACAGTGAGTGGACACAGCATGGGCCGTCCACACCACGGAACGTGACTCAGCCACAAAAAGGAATGACGGGCCGGCCGAAGCGGCTCATGCCCCTAATCCCAGCAGTTAGGGAGACCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCAACACCAGCCTGGGCGACAGAGCGGGACTTCATCTCTATAAAGAAAAAACTAATAAAATAAAAATTTGTTTCATTTTTGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGATTTGCTGAGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATAGCATGAACCTGGGAAGCAGAGCTTGCAGTGAGCCGAGATCGCGCCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAAGAAATGTTGGAAGGTAGCAGGAGATCTCTGAAGAGGTCTGGTGGGCCAGGACAAGGTATCAGAGGTAGAGGGCACTGGGTGGGTTCAGAGGGGTCTTGGCAGAGGGACTGGACGTGGGGGTTCAGAGAAAGGGGGTCAGGCCGGCTCAGGGGCTCAAGGCCCGGGATGGAAGCGGGTGAGCAAAGCTGGTTGTCGCCGTTTTGCCAAATGGGGCGCAGCAAGTGTCTGTCCAGATTGTCGCCCTCGCCTTCCTCATCCCTGGGGCATCCTTGGCCAAGTGGTCGCCCTGGCAACCAGAGATGGGGAGGGTCTGAGGCTGCTCCAGGTCAGGGCTGGGGCAGGGCTGGGCAGGGCTTCCCAGGGACCCGAGACTGGCAGGGAGACAAGCAGGGGCCTGGTTACCTCGATGACGGGGTCCGAGGAATACTGCTTCAGGATCTCCAGAACTTCCGGGTCCCCGATGGCCCCCAGGGCCTCCCCTGGGAAGAAGCAGCCGGAGAGCTCATGTTGGTGGGGTGGATGTGTGGAAAATGCCCGGCTACCTCTGGGACCGGAGGACACCCCTCCCAGGGCTCTGCCACTGTGGGGAAGCCCCGCCTCTGTCCACGGCTGATTGGAGCAGCAGTCGGTACAGGCTCCCCGCTGGACCAATCAGCATCCCCTCCCCAGAGCAAGGCACTGCCTGGAACCGCACCTGGCTGCCGCTCAGAGCAAAATGGAC
ATGCCCCGGGGCAGGATCCAGCACTCCGGTGGAGAACATGGCTCAGTGGATAGTCGGTTCCCGTTGCGTTTTGCCTCCTGTCTTCTGGTTTTGGCCTCTCTGGCTGCAGACCAGGAGCTCTGCACCTGAGATTCTACCGCTATGCCTATTTTACAGAGAGGTAAGTGGGCTGTCCCCAGCCACACATGGAAGGGCTGCGGGAGCCGGCGGAGGAAGCCATGTCTGGGCTCTCAGCTGGACCACAGAACCCCTTCCACTGCACCCACAACAGGAGCTGGGGGAAGACGGGGGTCCGGGAAGGGCCAGGCTGGAGGGCTGTTTCCCCAGAGCCCACTTGGAGGGAGCTGGCTGGGCAGATCTGACCAGGTAACCGCACATAAAACAGGTGCAGGCCTGCCTGTCGCTGGTGGTGGCTCAGTGTCAGCAGCAGGACAGATCCTAGAGCCAATGGCTGCGGATACAACCGTCTCCCCGCCCAGACGCCACACACTCTCGGGGAACGTTCCCTGAAAGCCCCCACCCCTCCCTCCCTCCCACGCTCCCCTCACCCAACACACTCAGAGGAGTCAGTGCTTGGCAAAAATAATTTAATATTCCATCTGGGCAGCGCTCTGAGGTCTGCTTGTCCCTCCCTGGCCCCTGTGCCCTACCTGACCCACTCAGGGACCACCACCCTGTCCCTACCCAGGCCTCGGGGTGGGGGAGTCAGAGGCCCCCAGACCCTGTGTCCCATTCCTAGTGAAGCTGAAGCCACCATAACGTCAGCCTCTTCCCAGAGCCCCAGCTCTGCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTCCCCTCGCGATCCTCCCTTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCAATCCTCCCCTGTCCTGAGCCGGGCATCCCAGAGCCTCCCGCAGAGTCCCACCCCAAGCCTGGAAACTTCCACGCTACAGCCCTGCGCCAGGCCCCGAGGAGCAGTCAGGGGACTCAGGGAGTCACAGCACAACGGCAGCTCCTCGGTCCCAGACGGAGGAGGGGGACAGCAACCATGCGCCCAGCAAGACACAAGCGATGACACCGATTTACACACACCCGGTTTAGACGCCAAAGCTCTGCGGGGGAGGAGCGGCCCTCAAGAGTCCTCCGGGAGCTCCGGGTGAGGGTGGGGCCCTAGGAGGGGGCCCCGCGCAGCTGCTCCAGGCCGTCCGCGTACTGGAAGGCCCGCCCGGTCTCGTGCTCATACATGTCCAGAGCCACCTCGCAGCTCTCACGCACCACGCGCTCTGGGTCGTCCGCGTGAGCCTGCAGCGCGGCCAGGCAGGCGGGCCGGGCAATGGCGCCCAGGGCCTCCGCGCACTCGTGCCGCACCATGGGGTTCTCGGTGCATCGGGCCAGGGCGGCCGCCAGCTGGGGCACCGCCGCCTCGTGCTGCAGCTGTCCCAGGACGTAGCCGACCTCGTGGCGGAAGAGGGCGCTCCCACAGTGCAGACCTGCAGGGGAGAGGGACACTCGCTGGGGCCAGGAGGGGTGGGAAGGGGAGCTCTGTCTTTTCGAAGACATGGGGTCTTGCTATCTTGCCCAGGCAGGTCACAAAGTCCTGGCGATCTTCCCATCCCGGCCTCCCAAAGTGCTGGGACGACAGGCGTGAGCCACCACGCCCAACCTGGGGTGTTCTACCTTGAAGACACCCCTGCCCCCAGCCCCAGTGATTAGGGATGCCCGGGGGAACTGACCGCAGCTATGGGGGCGGGAAAAGCTGGGAGCTATGGGGACCAAGAGGGACGCTTGCACGGGTTCTTAAGAGGCCCCATGGGAAATGCTTGGGGCCAGGCCCGGGATGCCGTTCCCGGGGGCAGGCCGCGGCCCCACTGCACAGATGCCATCACTGAACCTCACAGCGAGGCACTGCCCAGGACCCCACCCCAGAAGCCCCTCCTCACCCTCGGCCAGCGCCAGGGCGGCCTCCTCGCCTCCCGCTTTGCGCAGGGCGAACATGGCGCGGTATCGCTCGAAGAGCGGCCGGGACTCATCCAGCAGCGCCTCCCGCAGGCGCCCCACGTCACGCTCCTCAGCCGGCGGGGCAGGGTCCACGGAGAGGTAGGGTCCCGCCGCCGGCTCCCCGCCGTGCTGCTGCAGCCACTCCAGCCTGCGCACGGCCAGCTGGCAGGTCTCGGCCACCTGCGGGGAGGGGGTATCAGGCAGCGGGTTGGCCCTGGGGGGTCGCAGGGGCCCTTCCCCACCCCCCGGGATGGCAGCTTAGCAGGGGAGAGAGACACTGGCAGGGTGACTAACCCATCATTCCAGGCAGGAAGTAAGCCAGCAGGGGTGGCTGACTTGTGAGTGACCGGGGGACTGGAGGGCTGGGGAGGGCCTCAGGGAGGAGGTGATGTGGAGGCAGAGACCTAAGCCAGCTTAGGGAGGGAATCAGGTGGAGACCCGGGGATGGGGAAGCAGCGGTGGAAAGGCCCTGAGGCAGGACCCTGCGGGAGGGGTGAGGGCCAAAGGAACATGTGCGGCCCCACCTGACCAGGTAAGGCCTGCGGGCCACTGTAAGGGCTTGGGATTTTGTCCTAAAGGTGATGAGATATCGTGAGAGCTTTAAGCATGGAACAGAACAGCAGAATTGAGTGTCACACGTACCCCCGGCTGCCCCGGAGGAGGAGAGACTGAGGGTCGGGGTGGGATGTGGACAAGAAGTGGCAGGGGAGAAAGGAACATGCATGTCCGTGGCGGCATAACTCATAACAGCTAAAAAGCAGAGACAATTCAAGCATCCAGCCACAGTGAGTGGACACAGCATGGGCCGTCCACACCACGGAACGTGACTCAGCCACAAAAAGGAATGACGGGCCGGCCGAAGCGGCTCATGCCCCTAATCCCAGCAGTTAGGGAGACCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCAACACCAGCCTGGGCGACAGAGCGGGACTTCATCTCTATAAAGAAAAAACTAATAAAATAAAAATTTGTTTCATTTTTGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGATTTGCTGAGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATAGCATGAACCTGGGAAGCAGAGCTTGCAGTGAGCCGAGATCGCGCCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAAGAAATGTTGGAAGGTAGCAGGAGATCTCTGAAGAGGTCTGGTGGGCCAGGACAAGGTATCAGAGGTAGAGGGCACTGGGTGGGTTCAGAGGGGTCTTGGCAGAGGGACTGGACGTGGGGGTTCAGAGAAAGGGGGTCAGGCCGGCTCAGGGGCTCAAGGCCCGGGATGGAAGCGGGTGAGCAAAGCTGGTTGTCGCCGTTTTGCCAAATGGGGCGCAGCAAGTGTCTGTCCAGATTGTCGCCCTCGCCTTCCTCATCCCTGGGGCATCCTTGGCCAAGTGGTCGCCCTGGCAACCAGAGATGGGGAGGGTCTGAGGCTGCTCCAGGTCAGGGCTGGGGCAGGGCTGGGCAGGGCTTCCCAGGGACCCGAGACTGGCAGGGAGACAAGCAGGGGCCTGGTTACCTCGATGACGGGGTCCGAGGAATACTGCTTCAGGATCTCCAGAACTTCCGGGTCCCCGATGGCCCCCAGGGCCTCCCCTGGGAAGAAGCAGCCGGAGAGCTCATGTTGGTGGGGTGGATGTGTGGAAAATGCCCGGCTACCTCTGGGACCGGAGGACACCCCTCCCAGGGCTCTGCCACTGTGGGGAAGCCCCGCCTCTGTCCACGGCTGATTGGAGCAGCAGTCGGTACAGGCTCCCCGCTGGACCAATCAGCATCCCCTCCCCAGAGCAAGGCACTGCCTGGAACCGCACCTGGCTGCCGCTCAGAGCAAAATGGAC
Task1_train_26301
Here is a genetic alteration in DOHH (deoxyhypusine hydroxylase) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; DOHH related neurodevelopmental disorder
ATGCCCCGGGGCAGGATCCAGCACTCCGGTGGAGAACATGGCTCAGTGGATAGTCGGTTCCCGTTGCGTTTTGCCTCCTGTCTTCTGGTTTTGGCCTCTCTGGCTGCAGACCAGGAGCTCTGCACCTGAGATTCTACCGCTATGCCTATTTTACAGAGAGGTAAGTGGGCTGTCCCCAGCCACACATGGAAGGGCTGCGGGAGCCGGCGGAGGAAGCCATGTCTGGGCTCTCAGCTGGACCACAGAACCCCTTCCACTGCACCCACAACAGGAGCTGGGGGAAGACGGGGGTCCGGGAAGGGCCAGGCTGGAGGGCTGTTTCCCCAGAGCCCACTTGGAGGGAGCTGGCTGGGCAGATCTGACCAGGTAACCGCACATAAAACAGGTGCAGGCCTGCCTGTCGCTGGTGGTGGCTCAGTGTCAGCAGCAGGACAGATCCTAGAGCCAATGGCTGCGGATACAACCGTCTCCCCGCCCAGACGCCACACACTCTCGGGGAACGTTCCCTGAAAGCCCCCACCCCTCCCTCCCTCCCACGCTCCCCTCACCCAACACACTCAGAGGAGTCAGTGCTTGGCAAAAATAATTTAATATTCCATCTGGGCAGCGCTCTGAGGTCTGCTTGTCCCTCCCTGGCCCCTGTGCCCTACCTGACCCACTCAGGGACCACCACCCTGTCCCTACCCAGGCCTCGGGGTGGGGGAGTCAGAGGCCCCCAGACCCTGTGTCCCATTCCTAGTGAAGCTGAAGCCACCATAACGTCAGCCTCTTCCCAGAGCCCCAGCTCTGCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTCCCCTCGCGATCCTCCCTTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCAATCCTCCCCTGTCCTGAGCCGGGCATCCCAGAGCCTCCCGCAGAGTCCCACCCCAAGCCTGGAAACTTCCACGCTACAGCCCTGCGCCAGGCCCCGAGGAGCAGTCAGGGGACTCAGGGAGTCACAGCACAACGGCAGCTCCTCGGTCCCAGACGGAGGAGGGGGACAGCAACCATGCGCCCAGCAAGACACAAGCGATGACACCGATTTACACACACCCGGTTTAGACGCCAAAGCTCTGCGGGGGAGGAGCGGCCCTCAAGAGTCCTCCGGGAGCTCCGGGTGAGGGTGGGGCCCTAGGAGGGGGCCCCGCGCAGCTGCTCCAGGCCGTCCGCGTACTGGAAGGCCCGCCCGGTCTCGTGCTCATACATGTCCAGAGCCACCTCGCAGCTCTCACGCACCACGCGCTCTGGGTCGTCCGCGTGAGCCTGCAGCGCGGCCAGGCAGGCGGGCCGGGCAATGGCGCCCAGGGCCTCCGCGCACTCGTGCCGCACCATGGGGTTCTCGGTGCATCGGGCCAGGGCGGCCGCCAGCTGGGGCACCGCCGCCTCGTGCTGCAGCTGTCCCAGGACGTAGCCGACCTCGTGGCGGAAGAGGGCGCTCCCACAGTGCAGACCTGCAGGGGAGAGGGACACTCGCTGGGGCCAGGAGGGGTGGGAAGGGGAGCTCTGTCTTTTCGAAGACATGGGGTCTTGCTATCTTGCCCAGGCAGGTCACAAAGTCCTGGCGATCTTCCCATCCCGGCCTCCCAAAGTGCTGGGACGACAGGCGTGAGCCACCACGCCCAACCTGGGGTGTTCTACCTTGAAGACACCCCTGCCCCCAGCCCCAGTGATTAGGGATGCCCGGGGGAACTGACCGCAGCTATGGGGGCGGGAAAAGCTGGGAGCTATGGGGACCAAGAGGGACGCTTGCACGGGTTCTTAAGAGGCCCCATGGGAAATGCTTGGGGCCAGGCCCGGGATGCCGTTCCCGGGGGCAGGCCGCGGCCCCACTGCACAGATGCCATCACTGAACCTCACAGCGAGGCACTGCCCAGGACCCCACCCCAGAAGCCCCTCCTCACCCTCGGCCAGCGCCAGGGCGGCCTCCTCGCCTCCCGCGTTGCGCAGGGCGAACATGGCGCGGTATCGCTCGAAGAGCGGCCGGGACTCATCCAGCAGCGCCTCCCGCAGGCGCCCCACGTCACGCTCCTCAGCCGGCGGGGCAGGGTCCACGGAGAGGTAGGGTCCCGCCGCCGGCTCCCCGCCGTGCTGCTGCAGCCACTCCAGCCTGCGCACGGCCAGCTGGCAGGTCTCGGCCACCTGCGGGGAGGGGGTATCAGGCAGCGGGTTGGCCCTGGGGGGTCGCAGGGGCCCTTCCCCACCCCCCGGGATGGCAGCTTAGCAGGGGAGAGAGACACTGGCAGGGTGACTAACCCATCATTCCAGGCAGGAAGTAAGCCAGCAGGGGTGGCTGACTTGTGAGTGACCGGGGGACTGGAGGGCTGGGGAGGGCCTCAGGGAGGAGGTGATGTGGAGGCAGAGACCTAAGCCAGCTTAGGGAGGGAATCAGGTGGAGACCCGGGGATGGGGAAGCAGCGGTGGAAAGGCCCTGAGGCAGGACCCTGCGGGAGGGGTGAGGGCCAAAGGAACATGTGCGGCCCCACCTGACCAGGTAAGGCCTGCGGGCCACTGTAAGGGCTTGGGATTTTGTCCTAAAGGTGATGAGATATCGTGAGAGCTTTAAGCATGGAACAGAACAGCAGAATTGAGTGTCACACGTACCCCCGGCTGCCCCGGAGGAGGAGAGACTGAGGGTCGGGGTGGGATGTGGACAAGAAGTGGCAGGGGAGAAAGGAACATGCATGTCCGTGGCGGCATAACTCATAACAGCTAAAAAGCAGAGACAATTCAAGCATCCAGCCACAGTGAGTGGACACAGCATGGGCCGTCCACACCACGGAACGTGACTCAGCCACAAAAAGGAATGACGGGCCGGCCGAAGCGGCTCATGCCCCTAATCCCAGCAGTTAGGGAGACCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCAACACCAGCCTGGGCGACAGAGCGGGACTTCATCTCTATAAAGAAAAAACTAATAAAATAAAAATTTGTTTCATTTTTGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGATTTGCTGAGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATAGCATGAACCTGGGAAGCAGAGCTTGCAGTGAGCCGAGATCGCGCCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAAGAAATGTTGGAAGGTAGCAGGAGATCTCTGAAGAGGTCTGGTGGGCCAGGACAAGGTATCAGAGGTAGAGGGCACTGGGTGGGTTCAGAGGGGTCTTGGCAGAGGGACTGGACGTGGGGGTTCAGAGAAAGGGGGTCAGGCCGGCTCAGGGGCTCAAGGCCCGGGATGGAAGCGGGTGAGCAAAGCTGGTTGTCGCCGTTTTGCCAAATGGGGCGCAGCAAGTGTCTGTCCAGATTGTCGCCCTCGCCTTCCTCATCCCTGGGGCATCCTTGGCCAAGTGGTCGCCCTGGCAACCAGAGATGGGGAGGGTCTGAGGCTGCTCCAGGTCAGGGCTGGGGCAGGGCTGGGCAGGGCTTCCCAGGGACCCGAGACTGGCAGGGAGACAAGCAGGGGCCTGGTTACCTCGATGACGGGGTCCGAGGAATACTGCTTCAGGATCTCCAGAACTTCCGGGTCCCCGATGGCCCCCAGGGCCTCCCCTGGGAAGAAGCAGCCGGAGAGCTCATGTTGGTGGGGTGGATGTGTGGAAAATGCCCGGCTACCTCTGGGACCGGAGGACACCCCTCCCAGGGCTCTGCCACTGTGGGGAAGCCCCGCCTCTGTCCACGGCTGATTGGAGCAGCAGTCGGTACAGGCTCCCCGCTGGACCAATCAGCATCCCCTCCCCAGAGCAAGGCACTGCCTGGAACCGCACCTGGCTGCCGCTCAGAGCAAAATGGAC
ATGCCCCGGGGCAGGATCCAGCACTCCGGTGGAGAACATGGCTCAGTGGATAGTCGGTTCCCGTTGCGTTTTGCCTCCTGTCTTCTGGTTTTGGCCTCTCTGGCTGCAGACCAGGAGCTCTGCACCTGAGATTCTACCGCTATGCCTATTTTACAGAGAGGTAAGTGGGCTGTCCCCAGCCACACATGGAAGGGCTGCGGGAGCCGGCGGAGGAAGCCATGTCTGGGCTCTCAGCTGGACCACAGAACCCCTTCCACTGCACCCACAACAGGAGCTGGGGGAAGACGGGGGTCCGGGAAGGGCCAGGCTGGAGGGCTGTTTCCCCAGAGCCCACTTGGAGGGAGCTGGCTGGGCAGATCTGACCAGGTAACCGCACATAAAACAGGTGCAGGCCTGCCTGTCGCTGGTGGTGGCTCAGTGTCAGCAGCAGGACAGATCCTAGAGCCAATGGCTGCGGATACAACCGTCTCCCCGCCCAGACGCCACACACTCTCGGGGAACGTTCCCTGAAAGCCCCCACCCCTCCCTCCCTCCCACGCTCCCCTCACCCAACACACTCAGAGGAGTCAGTGCTTGGCAAAAATAATTTAATATTCCATCTGGGCAGCGCTCTGAGGTCTGCTTGTCCCTCCCTGGCCCCTGTGCCCTACCTGACCCACTCAGGGACCACCACCCTGTCCCTACCCAGGCCTCGGGGTGGGGGAGTCAGAGGCCCCCAGACCCTGTGTCCCATTCCTAGTGAAGCTGAAGCCACCATAACGTCAGCCTCTTCCCAGAGCCCCAGCTCTGCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTCCCCTCGCGATCCTCCCTTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCGATCCTCCCCTGGCTTCCCTCGCAATCCTCCCCTGTCCTGAGCCGGGCATCCCAGAGCCTCCCGCAGAGTCCCACCCCAAGCCTGGAAACTTCCACGCTACAGCCCTGCGCCAGGCCCCGAGGAGCAGTCAGGGGACTCAGGGAGTCACAGCACAACGGCAGCTCCTCGGTCCCAGACGGAGGAGGGGGACAGCAACCATGCGCCCAGCAAGACACAAGCGATGACACCGATTTACACACACCCGGTTTAGACGCCAAAGCTCTGCGGGGGAGGAGCGGCCCTCAAGAGTCCTCCGGGAGCTCCGGGTGAGGGTGGGGCCCTAGGAGGGGGCCCCGCGCAGCTGCTCCAGGCCGTCCGCGTACTGGAAGGCCCGCCCGGTCTCGTGCTCATACATGTCCAGAGCCACCTCGCAGCTCTCACGCACCACGCGCTCTGGGTCGTCCGCGTGAGCCTGCAGCGCGGCCAGGCAGGCGGGCCGGGCAATGGCGCCCAGGGCCTCCGCGCACTCGTGCCGCACCATGGGGTTCTCGGTGCATCGGGCCAGGGCGGCCGCCAGCTGGGGCACCGCCGCCTCGTGCTGCAGCTGTCCCAGGACGTAGCCGACCTCGTGGCGGAAGAGGGCGCTCCCACAGTGCAGACCTGCAGGGGAGAGGGACACTCGCTGGGGCCAGGAGGGGTGGGAAGGGGAGCTCTGTCTTTTCGAAGACATGGGGTCTTGCTATCTTGCCCAGGCAGGTCACAAAGTCCTGGCGATCTTCCCATCCCGGCCTCCCAAAGTGCTGGGACGACAGGCGTGAGCCACCACGCCCAACCTGGGGTGTTCTACCTTGAAGACACCCCTGCCCCCAGCCCCAGTGATTAGGGATGCCCGGGGGAACTGACCGCAGCTATGGGGGCGGGAAAAGCTGGGAGCTATGGGGACCAAGAGGGACGCTTGCACGGGTTCTTAAGAGGCCCCATGGGAAATGCTTGGGGCCAGGCCCGGGATGCCGTTCCCGGGGGCAGGCCGCGGCCCCACTGCACAGATGCCATCACTGAACCTCACAGCGAGGCACTGCCCAGGACCCCACCCCAGAAGCCCCTCCTCACCCTCGGCCAGCGCCAGGGCGGCCTCCTCGCCTCCCGCTTTGCGCAGGGCGAACATGGCGCGGTATCGCTCGAAGAGCGGCCGGGACTCATCCAGCAGCGCCTCCCGCAGGCGCCCCACGTCACGCTCCTCAGCCGGCGGGGCAGGGTCCACGGAGAGGTAGGGTCCCGCCGCCGGCTCCCCGCCGTGCTGCTGCAGCCACTCCAGCCTGCGCACGGCCAGCTGGCAGGTCTCGGCCACCTGCGGGGAGGGGGTATCAGGCAGCGGGTTGGCCCTGGGGGGTCGCAGGGGCCCTTCCCCACCCCCCGGGATGGCAGCTTAGCAGGGGAGAGAGACACTGGCAGGGTGACTAACCCATCATTCCAGGCAGGAAGTAAGCCAGCAGGGGTGGCTGACTTGTGAGTGACCGGGGGACTGGAGGGCTGGGGAGGGCCTCAGGGAGGAGGTGATGTGGAGGCAGAGACCTAAGCCAGCTTAGGGAGGGAATCAGGTGGAGACCCGGGGATGGGGAAGCAGCGGTGGAAAGGCCCTGAGGCAGGACCCTGCGGGAGGGGTGAGGGCCAAAGGAACATGTGCGGCCCCACCTGACCAGGTAAGGCCTGCGGGCCACTGTAAGGGCTTGGGATTTTGTCCTAAAGGTGATGAGATATCGTGAGAGCTTTAAGCATGGAACAGAACAGCAGAATTGAGTGTCACACGTACCCCCGGCTGCCCCGGAGGAGGAGAGACTGAGGGTCGGGGTGGGATGTGGACAAGAAGTGGCAGGGGAGAAAGGAACATGCATGTCCGTGGCGGCATAACTCATAACAGCTAAAAAGCAGAGACAATTCAAGCATCCAGCCACAGTGAGTGGACACAGCATGGGCCGTCCACACCACGGAACGTGACTCAGCCACAAAAAGGAATGACGGGCCGGCCGAAGCGGCTCATGCCCCTAATCCCAGCAGTTAGGGAGACCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTCAACACCAGCCTGGGCGACAGAGCGGGACTTCATCTCTATAAAGAAAAAACTAATAAAATAAAAATTTGTTTCATTTTTGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGATTTGCTGAGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATAGCATGAACCTGGGAAGCAGAGCTTGCAGTGAGCCGAGATCGCGCCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACCGTCTCAAAAAAAAAAAAGAAGAAATGTTGGAAGGTAGCAGGAGATCTCTGAAGAGGTCTGGTGGGCCAGGACAAGGTATCAGAGGTAGAGGGCACTGGGTGGGTTCAGAGGGGTCTTGGCAGAGGGACTGGACGTGGGGGTTCAGAGAAAGGGGGTCAGGCCGGCTCAGGGGCTCAAGGCCCGGGATGGAAGCGGGTGAGCAAAGCTGGTTGTCGCCGTTTTGCCAAATGGGGCGCAGCAAGTGTCTGTCCAGATTGTCGCCCTCGCCTTCCTCATCCCTGGGGCATCCTTGGCCAAGTGGTCGCCCTGGCAACCAGAGATGGGGAGGGTCTGAGGCTGCTCCAGGTCAGGGCTGGGGCAGGGCTGGGCAGGGCTTCCCAGGGACCCGAGACTGGCAGGGAGACAAGCAGGGGCCTGGTTACCTCGATGACGGGGTCCGAGGAATACTGCTTCAGGATCTCCAGAACTTCCGGGTCCCCGATGGCCCCCAGGGCCTCCCCTGGGAAGAAGCAGCCGGAGAGCTCATGTTGGTGGGGTGGATGTGTGGAAAATGCCCGGCTACCTCTGGGACCGGAGGACACCCCTCCCAGGGCTCTGCCACTGTGGGGAAGCCCCGCCTCTGTCCACGGCTGATTGGAGCAGCAGTCGGTACAGGCTCCCCGCTGGACCAATCAGCATCCCCTCCCCAGAGCAAGGCACTGCCTGGAACCGCACCTGGCTGCCGCTCAGAGCAAAATGGAC
Task1_train_26302
This mutation occurs in FZR1 (fizzy and cell division cycle 20 related 1) on Chromosome 19. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Developmental and epileptic encephalopathy 109
TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCGCCTGGCCCACCCCTTGGGTTTTCAAGATCAAAGCCCCCTTTGCTCAGTGGCCAGAGGCTGAGAGAGGCTGGCCTGGGGGCACTCTCGGGGGGCTCTCGGTGCTGAGAGCAAGCCCTCTGCTGATGCCCTTCAGGTCACAGAGATGCGGCGGACCCTGACGCCTGCCAGCTCCCCAGTGTCCTCGCCCAGCAAGCACGGAGACCGCTTCATCCCCTCCAGAGCCGGAGCCAACTGGAGCGTGAACTTCCACAGGATTAACGTGAGGGGCTGGCTGGGCAGGAGATGGGACCCCCCGGGAAGCCCAGGGCCCCTCCCAGCCTCCTTGCTCTAGGGCCGGGAACAAGCGGGCTCCTCGACCCCTCCCTCTCTGCTCTCCTGCCTGCAGGAGAATGAGAAGTCTCCCAGTCAGAACCGGAAAGCCAAGGACGCCACCTCAGACAACGGCAAAGGTTAGGGTCCCAGCCCATCCGCCCTGCAGGCCCCCACCCTGCCTTGCCCCGCCTCACTGTGCTTGGTGCCCGCAGACGGCCTGGCCTACTCTGCCCTGCTCAAGAATGAGCTGCTGGGTGCCGGCATCGAGAAGGTGCAGGACCCGCAGACTGAGGACCGCAGGCTGCAGCCCTCCACGCCTGAGAAGAAGGGTCTGTTCACGGTAAGCCTGCGGCACCCCCCACCCGGGAGCTGGCTCCCAGTGCAGCCTCCCCGGCCCCCCACCTCCCAGGCACCAGCTCTGCCTCCCCGAGCCCGGTTCTCGGGCCCAGCCACGGCTCAGCACCCCCGCCCTGACCCTGTTCCTTAGCCAGGTCAGGGGCCCTGGGATCTGAGGCTGGAGGTCTAGCAGGTAAACTGGGATGTGGGGGTGCGGGAGGAATCCAGGCTCAGCCTGTTGGGCTTTTTCTCCCCACACCAATGCTACCTGGGGTCCCGAACACCCAAGCCGGTGGGGGTCCTGCCCGTAGGGGGCAGTACTGGGTCCTCCCACAGGGCCCCACTCTGTCCACATGATCCGGGAGCTCAAAGGCAGGATCACACGGAGCCTGGCTTGGGTCCCTCGAGAGAGGGCGGGAGGGGTGGGGGGTCCGCAGTCCCCGCCAGGAAGGCGCCTGCCTTTTTACAGCTGCTCCACACAGGGTCTCAGCACCTGCCTTAGGGCTATGAGCTGTACCGGGAGCGTGGGCTGCTGGGGGGCTCTGAGGGTCCTGCGGCCTGGGCGTGCGCTCAGCTGGCATGTCCCCCGCTCCACAGTATTCCCTTAGCACCAAGCGCTCCAGCCCCGATGACGGCAACGATGTGTCTCCCTACTCCCTGTCTCCCGTCAGCAACAAGAGGTGGGTCCCAGCTTCCTCCGCAGCCCTCCCTACTCCCTGTCTCCCGTCAGCAGCAAGAGGTGGGTCCCAGCTTCCTCCGCAGCCCTGTCCCTGCGGGTCCTGGTGGGCGAGGCTGAAGGGGGCTTCCCAGGGCATAGTGGCCTGGAGCTGTGACTGTGTCCTCCCCCAGAGTCCTTAGAGTGGAGGGGCCCCAGCCCCCCATGAGGCCATGGTCAGTAATAGAAGTGTAGTCCAGGCCTAGAGCAGCCCAGAGATCCCCTTGCTGAGGGCACACCATGGCCTGGCAGTGTTGGCCTCAGACAAGGGGCAGGGTAGTCAGGAAGGGCTGCCTGGAGGAGGTGTGGGGAGCAGAGCCAGCACAGCTGTGGAAGGGAGGCCAGGGCAGCCAGACACCCGAGGGTGAAGGCCTGTGGGGCTGTCCCTGGGTTTAGGATCACATGGTGGCGGTGGTGATTGGAGGGGCCGGACTGGGCTCCTGGGGCTGGCAGGGAAGGAGACACTTCCCAAGCGTTTGCAAGAGGTGACCCAAGTGCCGTGGCTCACGGATGCCACGTGGCCGCCTCTGCAGCCAGAAGCTGCTCCGGTCCCCCCGGAAACCCACCCGCAAGATCTCCAAGATCCCCTTCAAGGTGCTGGACGCGCCCGAGCTGCAGGACGACTTCTACCTCAATCTGGTGGACTGGTCGTCCCTCAATGTGCTCAGCGTGGGGCTAGGCACCTGCGTGTACCTGTGGAGTGCCTGTACCAGCCAGGTGGGTGCTGCGTGGGGTGTGCATGTGCATGGGGGCCTCCCCAGCTCCCAGCAGACCTCAATGTACCCACCGGGATCCAGGGAGCATCAGTACGAGCCAGGCGCCTGCCATGGCCCTCCTAGCTGGGGCCTCCCAGCCTCCCAGCCACAGCCCTCCCAGCCACTACCCTCCCAGCCCTCCCAGCCATGGCCCTCCCAGTCAGGGCCTCCCAGCCACGGCCCTCCCAACCCTCCCAGCCATGGCCCTCCCAGCCACTGCCCTCCCAGCCAGCAGTGGCATCTGCGGCAGCATGGGGTCCCCACTGGAGCCACAATCTCTGTTCAGCTCTATAGAGAAGAAGAGACAGGTGTCCCAGCCTGGCTGAGCCCAGGGGCCACTATGACCACCGAGTGGCCGCTGTCCTGGAGTGGCCTCTGGGCGCATGGAGCCTGCTAGTCCCTACAGGGAGACTGGGTTGCTGGTGCAGGGCAGCAGCAGACACTGCCCGCTGGGGTGGGGGTTTCAGGGATAACGCCATGCGAGTAGTTTCGGGAGAGCGAGGGTTGGCGCCCTCCCTGCAGCCTATGAGCTGCTCCCGCTGGCAGTGTCCCACACCCTTCTAGGCCCTGCCCTCACCATTTGAGCGTCCTCTCCCGGCAGCAGGAGCCGTGTAGCTCTGGGCAGCTTCCTCCCATCCTCTGCTCGTCCCATGCAGGCTCTCCCCTGTGTGTGTGTGTCTCCCCTGTATGTGTGTGGCAGGCTTGAGCTTGCCAGGTCCCAGCAGTGACCAACCCAGCGACCCCATGGGCCTGGAGTGATGAGAGAGTGAATGAGTGGATGGGAGAGTGGATGGGAGAGTGGATGGGAGAATGGATGAGAGAGTGGATGGGTGAGCGGATGAGAGAGTGGATGGGTGAGCAGATTAGGGAGTGGATGGGTGAGTGGATGGGAGAGTGGGTGGGTGTGTGGATGGGTGCGTGGATGGGTGCGTGGATGGGAGAGTGGATGGGTACGTGGATGGGTGAGTGGATGGGAGAATGGATGAGAGAGTGGATGGGTGAGTGGATGAGAGAGTGGATGGGAAAGTGGATGAGAGTGGTTGAGGGGAGTGGATGTTTGAGTGGATGGGAGAGTGTATGGGAGTGGATGGGAGAGCGGATGGGTGAGTGGATGGGAGAGCAGATGGTTGAGCGGATGGATGAGCAGATGGGAGAGTGGATGAGAGTAGTTGAGGAAGTGGATGGGTGAGAGGATGGGAGTGCGGATGCTTGAGCGGATGGGAGAGCGGATGGGAGAGCAGACGGTTGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGGTTGGGAGAGCGGTTGGGAGAGCGGATGGGAGAGCGGATGAGAGAGTGGATGGTTGAGCGGATGGGAGAGCGGATGAGAGTGGTTGAGGGAGTGGATGGGAGAGTGGATGAGAGTGGTTGAGGAAGTGGATGGTTGAGTGGATGGGAGAGCGGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGGAGAGCGGATGGGAGAGCAGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCAGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGTGGCTGGTTGAGTGGATGGGAGAGCAGATGGGAGAGCAGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCAGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGTGGCTGGTTGAGTGGATGGGAGAGCGGATGGGTGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCAGATGGGAGAGCGGATGGGTGAGCAGATGGGAGAGCGGATGGGTGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCGGATGGGAGAGCGGATGGGAGAGTGGATGGGAGAGTGGATGGGTGAGCGCATGGGAGCGCATGGG
TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCGCCTGGCCCACCCCTTGGGTTTTCAAGATCAAAGCCCCCTTTGCTCAGTGGCCAGAGGCTGAGAGAGGCTGGCCTGGGGGCACTCTCGGGGGGCTCTCGGTGCTGAGAGCAAGCCCTCTGCTGATGCCCTTCAGGTCACAGAGATGCGGCGGACCCTGACGCCTGCCAGCTCCCCAGTGTCCTCGCCCAGCAAGCACGGAGACCGCTTCATCCCCTCCAGAGCCGGAGCCAACTGGAGCGTGAACTTCCACAGGATTAACGTGAGGGGCTGGCTGGGCAGGAGATGGGACCCCCCGGGAAGCCCAGGGCCCCTCCCAGCCTCCTTGCTCTAGGGCCGGGAACAAGCGGGCTCCTCGACCCCTCCCTCTCTGCTCTCCTGCCTGCAGGAGAATGAGAAGTCTCCCAGTCAGAACCGGAAAGCCAAGGACGCCACCTCAGACAACGGCAAAGGTTAGGGTCCCAGCCCATCCGCCCTGCAGGCCCCCACCCTGCCTTGCCCCGCCTCACTGTGCTTGGTGCCCGCAGACGGCCTGGCCTACTCTGCCCTGCTCAAGAATGAGCTGCTGGGTGCCGGCATCGAGAAGGTGCAGGACCCGCAGACTGAGGACCGCAGGCTGCAGCCCTCCACGCCTGAGAAGAAGGGTCTGTTCACGGTAAGCCTGCGGCACCCCCCACCCGGGAGCTGGCTCCCAGTGCAGCCTCCCCGGCCCCCCACCTCCCAGGCACCAGCTCTGCCTCCCCGAGCCCGGTTCTCGGGCCCAGCCACGGCTCAGCACCCCCGCCCTGACCCTGTTCCTTAGCCAGGTCAGGGGCCCTGGGATCTGAGGCTGGAGGTCTAGCAGGTAAACTGGGATGTGGGGGTGCGGGAGGAATCCAGGCTCAGCCTGTTGGGCTTTTTCTCCCCACACCAATGCTACCTGGGGTCCCGAACACCCAAGCCGGTGGGGGTCCTGCCCGTAGGGGGCAGTACTGGGTCCTCCCACAGGGCCCCACTCTGTCCACATGATCCGGGAGCTCAAAGGCAGGATCACACGGAGCCTGGCTTGGGTCCCTCGAGAGAGGGCGGGAGGGGTGGGGGGTCCGCAGTCCCCGCCAGGAAGGCGCCTGCCTTTTTACAGCTGCTCCACACAGGGTCTCAGCACCTGCCTTAGGGCTATGAGCTGTACCGGGAGCGTGGGCTGCTGGGGGGCTCTGAGGGTCCTGCGGCCTGGGCGTGCGCTCAGCTGGCATGTCCCCCGCTCCACAGTATTCCCTTAGCACCAAGCGCTCCAGCCCCGATGACGGCAACGATGTGTCTCCCTACTCCCTGTCTCCCGTCAGCAACAAGAGGTGGGTCCCAGCTTCCTCCGCAGCCCTCCCTACTCCCTGTCTCCCGTCAGCAGCAAGAGGTGGGTCCCAGCTTCCTCCGCAGCCCTGTCCCTGCGGGTCCTGGTGGGCGAGGCTGAAGGGGGCTTCCCAGGGCATAGTGGCCTGGAGCTGTGACTGTGTCCTCCCCCAGAGTCCTTAGAGTGGAGGGGCCCCAGCCCCCCATGAGGCCATGGTCAGTAATAGAAGTGTAGTCCAGGCCTAGAGCAGCCCAGAGATCCCCTTGCTGAGGGCACACCATGGCCTGGCAGTGTTGGCCTCAGACAAGGGGCAGGGTAGTCAGGAAGGGCTGCCTGGAGGAGGTGTGGGGAGCAGAGCCAGCACAGCTGTGGAAGGGAGGCCAGGGCAGCCAGACACCCGAGGGTGAAGGCCTGTGGGGCTGTCCCTGGGTTTAGGATCACATGGTGGCGGTGGTGATTGGAGGGGCCGGACTGGGCTCCTGGGGCTGGCAGGGAAGGAGACACTTCCCAAGCGTTTGCAAGAGGTGACCCAAGTGCCGTGGCTCACGGATGCCACGTGGCCGCCTCTGCAGCCAGAAGCTGCTCCGGTCCCCCCGGAAACCCACCCGCAAGATCTCCAAGATCCCCTTCAAGGTGCTGGACGCGCCCGAGCTGCAGGACAACTTCTACCTCAATCTGGTGGACTGGTCGTCCCTCAATGTGCTCAGCGTGGGGCTAGGCACCTGCGTGTACCTGTGGAGTGCCTGTACCAGCCAGGTGGGTGCTGCGTGGGGTGTGCATGTGCATGGGGGCCTCCCCAGCTCCCAGCAGACCTCAATGTACCCACCGGGATCCAGGGAGCATCAGTACGAGCCAGGCGCCTGCCATGGCCCTCCTAGCTGGGGCCTCCCAGCCTCCCAGCCACAGCCCTCCCAGCCACTACCCTCCCAGCCCTCCCAGCCATGGCCCTCCCAGTCAGGGCCTCCCAGCCACGGCCCTCCCAACCCTCCCAGCCATGGCCCTCCCAGCCACTGCCCTCCCAGCCAGCAGTGGCATCTGCGGCAGCATGGGGTCCCCACTGGAGCCACAATCTCTGTTCAGCTCTATAGAGAAGAAGAGACAGGTGTCCCAGCCTGGCTGAGCCCAGGGGCCACTATGACCACCGAGTGGCCGCTGTCCTGGAGTGGCCTCTGGGCGCATGGAGCCTGCTAGTCCCTACAGGGAGACTGGGTTGCTGGTGCAGGGCAGCAGCAGACACTGCCCGCTGGGGTGGGGGTTTCAGGGATAACGCCATGCGAGTAGTTTCGGGAGAGCGAGGGTTGGCGCCCTCCCTGCAGCCTATGAGCTGCTCCCGCTGGCAGTGTCCCACACCCTTCTAGGCCCTGCCCTCACCATTTGAGCGTCCTCTCCCGGCAGCAGGAGCCGTGTAGCTCTGGGCAGCTTCCTCCCATCCTCTGCTCGTCCCATGCAGGCTCTCCCCTGTGTGTGTGTGTCTCCCCTGTATGTGTGTGGCAGGCTTGAGCTTGCCAGGTCCCAGCAGTGACCAACCCAGCGACCCCATGGGCCTGGAGTGATGAGAGAGTGAATGAGTGGATGGGAGAGTGGATGGGAGAGTGGATGGGAGAATGGATGAGAGAGTGGATGGGTGAGCGGATGAGAGAGTGGATGGGTGAGCAGATTAGGGAGTGGATGGGTGAGTGGATGGGAGAGTGGGTGGGTGTGTGGATGGGTGCGTGGATGGGTGCGTGGATGGGAGAGTGGATGGGTACGTGGATGGGTGAGTGGATGGGAGAATGGATGAGAGAGTGGATGGGTGAGTGGATGAGAGAGTGGATGGGAAAGTGGATGAGAGTGGTTGAGGGGAGTGGATGTTTGAGTGGATGGGAGAGTGTATGGGAGTGGATGGGAGAGCGGATGGGTGAGTGGATGGGAGAGCAGATGGTTGAGCGGATGGATGAGCAGATGGGAGAGTGGATGAGAGTAGTTGAGGAAGTGGATGGGTGAGAGGATGGGAGTGCGGATGCTTGAGCGGATGGGAGAGCGGATGGGAGAGCAGACGGTTGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGGTTGGGAGAGCGGTTGGGAGAGCGGATGGGAGAGCGGATGAGAGAGTGGATGGTTGAGCGGATGGGAGAGCGGATGAGAGTGGTTGAGGGAGTGGATGGGAGAGTGGATGAGAGTGGTTGAGGAAGTGGATGGTTGAGTGGATGGGAGAGCGGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGGAGAGCGGATGGGAGAGCAGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCAGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGTGGCTGGTTGAGTGGATGGGAGAGCAGATGGGAGAGCAGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCAGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGTGGCTGGTTGAGTGGATGGGAGAGCGGATGGGTGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCAGATGGGAGAGCGGATGGGTGAGCAGATGGGAGAGCGGATGGGTGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCGGATGGGAGAGCGGATGGGAGAGTGGATGGGAGAGTGGATGGGTGAGCGCATGGGAGCGCATGGG
Task1_train_26303
A mutation found in FZR1 (fizzy and cell division cycle 20 related 1) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Developmental and epileptic encephalopathy 109
GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCGCCTGGCCCACCCCTTGGGTTTTCAAGATCAAAGCCCCCTTTGCTCAGTGGCCAGAGGCTGAGAGAGGCTGGCCTGGGGGCACTCTCGGGGGGCTCTCGGTGCTGAGAGCAAGCCCTCTGCTGATGCCCTTCAGGTCACAGAGATGCGGCGGACCCTGACGCCTGCCAGCTCCCCAGTGTCCTCGCCCAGCAAGCACGGAGACCGCTTCATCCCCTCCAGAGCCGGAGCCAACTGGAGCGTGAACTTCCACAGGATTAACGTGAGGGGCTGGCTGGGCAGGAGATGGGACCCCCCGGGAAGCCCAGGGCCCCTCCCAGCCTCCTTGCTCTAGGGCCGGGAACAAGCGGGCTCCTCGACCCCTCCCTCTCTGCTCTCCTGCCTGCAGGAGAATGAGAAGTCTCCCAGTCAGAACCGGAAAGCCAAGGACGCCACCTCAGACAACGGCAAAGGTTAGGGTCCCAGCCCATCCGCCCTGCAGGCCCCCACCCTGCCTTGCCCCGCCTCACTGTGCTTGGTGCCCGCAGACGGCCTGGCCTACTCTGCCCTGCTCAAGAATGAGCTGCTGGGTGCCGGCATCGAGAAGGTGCAGGACCCGCAGACTGAGGACCGCAGGCTGCAGCCCTCCACGCCTGAGAAGAAGGGTCTGTTCACGGTAAGCCTGCGGCACCCCCCACCCGGGAGCTGGCTCCCAGTGCAGCCTCCCCGGCCCCCCACCTCCCAGGCACCAGCTCTGCCTCCCCGAGCCCGGTTCTCGGGCCCAGCCACGGCTCAGCACCCCCGCCCTGACCCTGTTCCTTAGCCAGGTCAGGGGCCCTGGGATCTGAGGCTGGAGGTCTAGCAGGTAAACTGGGATGTGGGGGTGCGGGAGGAATCCAGGCTCAGCCTGTTGGGCTTTTTCTCCCCACACCAATGCTACCTGGGGTCCCGAACACCCAAGCCGGTGGGGGTCCTGCCCGTAGGGGGCAGTACTGGGTCCTCCCACAGGGCCCCACTCTGTCCACATGATCCGGGAGCTCAAAGGCAGGATCACACGGAGCCTGGCTTGGGTCCCTCGAGAGAGGGCGGGAGGGGTGGGGGGTCCGCAGTCCCCGCCAGGAAGGCGCCTGCCTTTTTACAGCTGCTCCACACAGGGTCTCAGCACCTGCCTTAGGGCTATGAGCTGTACCGGGAGCGTGGGCTGCTGGGGGGCTCTGAGGGTCCTGCGGCCTGGGCGTGCGCTCAGCTGGCATGTCCCCCGCTCCACAGTATTCCCTTAGCACCAAGCGCTCCAGCCCCGATGACGGCAACGATGTGTCTCCCTACTCCCTGTCTCCCGTCAGCAACAAGAGGTGGGTCCCAGCTTCCTCCGCAGCCCTCCCTACTCCCTGTCTCCCGTCAGCAGCAAGAGGTGGGTCCCAGCTTCCTCCGCAGCCCTGTCCCTGCGGGTCCTGGTGGGCGAGGCTGAAGGGGGCTTCCCAGGGCATAGTGGCCTGGAGCTGTGACTGTGTCCTCCCCCAGAGTCCTTAGAGTGGAGGGGCCCCAGCCCCCCATGAGGCCATGGTCAGTAATAGAAGTGTAGTCCAGGCCTAGAGCAGCCCAGAGATCCCCTTGCTGAGGGCACACCATGGCCTGGCAGTGTTGGCCTCAGACAAGGGGCAGGGTAGTCAGGAAGGGCTGCCTGGAGGAGGTGTGGGGAGCAGAGCCAGCACAGCTGTGGAAGGGAGGCCAGGGCAGCCAGACACCCGAGGGTGAAGGCCTGTGGGGCTGTCCCTGGGTTTAGGATCACATGGTGGCGGTGGTGATTGGAGGGGCCGGACTGGGCTCCTGGGGCTGGCAGGGAAGGAGACACTTCCCAAGCGTTTGCAAGAGGTGACCCAAGTGCCGTGGCTCACGGATGCCACGTGGCCGCCTCTGCAGCCAGAAGCTGCTCCGGTCCCCCCGGAAACCCACCCGCAAGATCTCCAAGATCCCCTTCAAGGTGCTGGACGCGCCCGAGCTGCAGGACGACTTCTACCTCAATCTGGTGGACTGGTCGTCCCTCAATGTGCTCAGCGTGGGGCTAGGCACCTGCGTGTACCTGTGGAGTGCCTGTACCAGCCAGGTGGGTGCTGCGTGGGGTGTGCATGTGCATGGGGGCCTCCCCAGCTCCCAGCAGACCTCAATGTACCCACCGGGATCCAGGGAGCATCAGTACGAGCCAGGCGCCTGCCATGGCCCTCCTAGCTGGGGCCTCCCAGCCTCCCAGCCACAGCCCTCCCAGCCACTACCCTCCCAGCCCTCCCAGCCATGGCCCTCCCAGTCAGGGCCTCCCAGCCACGGCCCTCCCAACCCTCCCAGCCATGGCCCTCCCAGCCACTGCCCTCCCAGCCAGCAGTGGCATCTGCGGCAGCATGGGGTCCCCACTGGAGCCACAATCTCTGTTCAGCTCTATAGAGAAGAAGAGACAGGTGTCCCAGCCTGGCTGAGCCCAGGGGCCACTATGACCACCGAGTGGCCGCTGTCCTGGAGTGGCCTCTGGGCGCATGGAGCCTGCTAGTCCCTACAGGGAGACTGGGTTGCTGGTGCAGGGCAGCAGCAGACACTGCCCGCTGGGGTGGGGGTTTCAGGGATAACGCCATGCGAGTAGTTTCGGGAGAGCGAGGGTTGGCGCCCTCCCTGCAGCCTATGAGCTGCTCCCGCTGGCAGTGTCCCACACCCTTCTAGGCCCTGCCCTCACCATTTGAGCGTCCTCTCCCGGCAGCAGGAGCCGTGTAGCTCTGGGCAGCTTCCTCCCATCCTCTGCTCGTCCCATGCAGGCTCTCCCCTGTGTGTGTGTGTCTCCCCTGTATGTGTGTGGCAGGCTTGAGCTTGCCAGGTCCCAGCAGTGACCAACCCAGCGACCCCATGGGCCTGGAGTGATGAGAGAGTGAATGAGTGGATGGGAGAGTGGATGGGAGAGTGGATGGGAGAATGGATGAGAGAGTGGATGGGTGAGCGGATGAGAGAGTGGATGGGTGAGCAGATTAGGGAGTGGATGGGTGAGTGGATGGGAGAGTGGGTGGGTGTGTGGATGGGTGCGTGGATGGGTGCGTGGATGGGAGAGTGGATGGGTACGTGGATGGGTGAGTGGATGGGAGAATGGATGAGAGAGTGGATGGGTGAGTGGATGAGAGAGTGGATGGGAAAGTGGATGAGAGTGGTTGAGGGGAGTGGATGTTTGAGTGGATGGGAGAGTGTATGGGAGTGGATGGGAGAGCGGATGGGTGAGTGGATGGGAGAGCAGATGGTTGAGCGGATGGATGAGCAGATGGGAGAGTGGATGAGAGTAGTTGAGGAAGTGGATGGGTGAGAGGATGGGAGTGCGGATGCTTGAGCGGATGGGAGAGCGGATGGGAGAGCAGACGGTTGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGGTTGGGAGAGCGGTTGGGAGAGCGGATGGGAGAGCGGATGAGAGAGTGGATGGTTGAGCGGATGGGAGAGCGGATGAGAGTGGTTGAGGGAGTGGATGGGAGAGTGGATGAGAGTGGTTGAGGAAGTGGATGGTTGAGTGGATGGGAGAGCGGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGGAGAGCGGATGGGAGAGCAGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCAGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGTGGCTGGTTGAGTGGATGGGAGAGCAGATGGGAGAGCAGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCAGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGTGGCTGGTTGAGTGGATGGGAGAGCGGATGGGTGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCAGATGGGAGAGCGGATGGGTGAGCAGATGGGAGAGCGGATGGGTGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCGGATGGGAGAGCGGATGGGAGAGTGGATGGGAGAGTGGATGGGTGAGCGCATGGGAGCGCATGGGT
GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCGCCTGGCCCACCCCTTGGGTTTTCAAGATCAAAGCCCCCTTTGCTCAGTGGCCAGAGGCTGAGAGAGGCTGGCCTGGGGGCACTCTCGGGGGGCTCTCGGTGCTGAGAGCAAGCCCTCTGCTGATGCCCTTCAGGTCACAGAGATGCGGCGGACCCTGACGCCTGCCAGCTCCCCAGTGTCCTCGCCCAGCAAGCACGGAGACCGCTTCATCCCCTCCAGAGCCGGAGCCAACTGGAGCGTGAACTTCCACAGGATTAACGTGAGGGGCTGGCTGGGCAGGAGATGGGACCCCCCGGGAAGCCCAGGGCCCCTCCCAGCCTCCTTGCTCTAGGGCCGGGAACAAGCGGGCTCCTCGACCCCTCCCTCTCTGCTCTCCTGCCTGCAGGAGAATGAGAAGTCTCCCAGTCAGAACCGGAAAGCCAAGGACGCCACCTCAGACAACGGCAAAGGTTAGGGTCCCAGCCCATCCGCCCTGCAGGCCCCCACCCTGCCTTGCCCCGCCTCACTGTGCTTGGTGCCCGCAGACGGCCTGGCCTACTCTGCCCTGCTCAAGAATGAGCTGCTGGGTGCCGGCATCGAGAAGGTGCAGGACCCGCAGACTGAGGACCGCAGGCTGCAGCCCTCCACGCCTGAGAAGAAGGGTCTGTTCACGGTAAGCCTGCGGCACCCCCCACCCGGGAGCTGGCTCCCAGTGCAGCCTCCCCGGCCCCCCACCTCCCAGGCACCAGCTCTGCCTCCCCGAGCCCGGTTCTCGGGCCCAGCCACGGCTCAGCACCCCCGCCCTGACCCTGTTCCTTAGCCAGGTCAGGGGCCCTGGGATCTGAGGCTGGAGGTCTAGCAGGTAAACTGGGATGTGGGGGTGCGGGAGGAATCCAGGCTCAGCCTGTTGGGCTTTTTCTCCCCACACCAATGCTACCTGGGGTCCCGAACACCCAAGCCGGTGGGGGTCCTGCCCGTAGGGGGCAGTACTGGGTCCTCCCACAGGGCCCCACTCTGTCCACATGATCCGGGAGCTCAAAGGCAGGATCACACGGAGCCTGGCTTGGGTCCCTCGAGAGAGGGCGGGAGGGGTGGGGGGTCCGCAGTCCCCGCCAGGAAGGCGCCTGCCTTTTTACAGCTGCTCCACACAGGGTCTCAGCACCTGCCTTAGGGCTATGAGCTGTACCGGGAGCGTGGGCTGCTGGGGGGCTCTGAGGGTCCTGCGGCCTGGGCGTGCGCTCAGCTGGCATGTCCCCCGCTCCACAGTATTCCCTTAGCACCAAGCGCTCCAGCCCCGATGACGGCAACGATGTGTCTCCCTACTCCCTGTCTCCCGTCAGCAACAAGAGGTGGGTCCCAGCTTCCTCCGCAGCCCTCCCTACTCCCTGTCTCCCGTCAGCAGCAAGAGGTGGGTCCCAGCTTCCTCCGCAGCCCTGTCCCTGCGGGTCCTGGTGGGCGAGGCTGAAGGGGGCTTCCCAGGGCATAGTGGCCTGGAGCTGTGACTGTGTCCTCCCCCAGAGTCCTTAGAGTGGAGGGGCCCCAGCCCCCCATGAGGCCATGGTCAGTAATAGAAGTGTAGTCCAGGCCTAGAGCAGCCCAGAGATCCCCTTGCTGAGGGCACACCATGGCCTGGCAGTGTTGGCCTCAGACAAGGGGCAGGGTAGTCAGGAAGGGCTGCCTGGAGGAGGTGTGGGGAGCAGAGCCAGCACAGCTGTGGAAGGGAGGCCAGGGCAGCCAGACACCCGAGGGTGAAGGCCTGTGGGGCTGTCCCTGGGTTTAGGATCACATGGTGGCGGTGGTGATTGGAGGGGCCGGACTGGGCTCCTGGGGCTGGCAGGGAAGGAGACACTTCCCAAGCGTTTGCAAGAGGTGACCCAAGTGCCGTGGCTCACGGATGCCACGTGGCCGCCTCTGCAGCCAGAAGCTGCTCCGGTCCCCCCGGAAACCCACCCGCAAGATCTCCAAGATCCCCTTCAAGGTGCTGGACGCGCCCGAGCTGCAGGACGGCTTCTACCTCAATCTGGTGGACTGGTCGTCCCTCAATGTGCTCAGCGTGGGGCTAGGCACCTGCGTGTACCTGTGGAGTGCCTGTACCAGCCAGGTGGGTGCTGCGTGGGGTGTGCATGTGCATGGGGGCCTCCCCAGCTCCCAGCAGACCTCAATGTACCCACCGGGATCCAGGGAGCATCAGTACGAGCCAGGCGCCTGCCATGGCCCTCCTAGCTGGGGCCTCCCAGCCTCCCAGCCACAGCCCTCCCAGCCACTACCCTCCCAGCCCTCCCAGCCATGGCCCTCCCAGTCAGGGCCTCCCAGCCACGGCCCTCCCAACCCTCCCAGCCATGGCCCTCCCAGCCACTGCCCTCCCAGCCAGCAGTGGCATCTGCGGCAGCATGGGGTCCCCACTGGAGCCACAATCTCTGTTCAGCTCTATAGAGAAGAAGAGACAGGTGTCCCAGCCTGGCTGAGCCCAGGGGCCACTATGACCACCGAGTGGCCGCTGTCCTGGAGTGGCCTCTGGGCGCATGGAGCCTGCTAGTCCCTACAGGGAGACTGGGTTGCTGGTGCAGGGCAGCAGCAGACACTGCCCGCTGGGGTGGGGGTTTCAGGGATAACGCCATGCGAGTAGTTTCGGGAGAGCGAGGGTTGGCGCCCTCCCTGCAGCCTATGAGCTGCTCCCGCTGGCAGTGTCCCACACCCTTCTAGGCCCTGCCCTCACCATTTGAGCGTCCTCTCCCGGCAGCAGGAGCCGTGTAGCTCTGGGCAGCTTCCTCCCATCCTCTGCTCGTCCCATGCAGGCTCTCCCCTGTGTGTGTGTGTCTCCCCTGTATGTGTGTGGCAGGCTTGAGCTTGCCAGGTCCCAGCAGTGACCAACCCAGCGACCCCATGGGCCTGGAGTGATGAGAGAGTGAATGAGTGGATGGGAGAGTGGATGGGAGAGTGGATGGGAGAATGGATGAGAGAGTGGATGGGTGAGCGGATGAGAGAGTGGATGGGTGAGCAGATTAGGGAGTGGATGGGTGAGTGGATGGGAGAGTGGGTGGGTGTGTGGATGGGTGCGTGGATGGGTGCGTGGATGGGAGAGTGGATGGGTACGTGGATGGGTGAGTGGATGGGAGAATGGATGAGAGAGTGGATGGGTGAGTGGATGAGAGAGTGGATGGGAAAGTGGATGAGAGTGGTTGAGGGGAGTGGATGTTTGAGTGGATGGGAGAGTGTATGGGAGTGGATGGGAGAGCGGATGGGTGAGTGGATGGGAGAGCAGATGGTTGAGCGGATGGATGAGCAGATGGGAGAGTGGATGAGAGTAGTTGAGGAAGTGGATGGGTGAGAGGATGGGAGTGCGGATGCTTGAGCGGATGGGAGAGCGGATGGGAGAGCAGACGGTTGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGGTTGGGAGAGCGGTTGGGAGAGCGGATGGGAGAGCGGATGAGAGAGTGGATGGTTGAGCGGATGGGAGAGCGGATGAGAGTGGTTGAGGGAGTGGATGGGAGAGTGGATGAGAGTGGTTGAGGAAGTGGATGGTTGAGTGGATGGGAGAGCGGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGGAGAGCGGATGGGAGAGCAGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCAGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGTGGCTGGTTGAGTGGATGGGAGAGCAGATGGGAGAGCAGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCAGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGTGGCTGGTTGAGTGGATGGGAGAGCGGATGGGTGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCAGATGGGAGAGCGGATGGGTGAGCAGATGGGAGAGCGGATGGGTGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCGGATGGGAGAGCGGATGGGAGAGTGGATGGGAGAGTGGATGGGTGAGCGCATGGGAGCGCATGGGT
Task1_train_26304
Assess the clinical impact of this variant on gene FZR1 (fizzy and cell division cycle 20 related 1), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Developmental and epileptic encephalopathy 109
GTGAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGCGGATGGGTGAGCGGATGGGAGAGCGCATGGGTGAGCAGATGCAAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCGGATGGGAGAGCAGATGGGAGAGTGGATGGGTGAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGCAGGGGAGAGCGGAGGAGAGAGCGGAGGAGAGTGGTTGAGGGAGTGGATGGTTGAGCAGAAGGGAGAGCGGATGGGAGAGCGGATGGGTGAGCAGATGGGTGAGCGGATGGGAGAGCGCATGGGAGAGCGCATGGGAGAGCGGATGGGAGAGCGCATGGGAGAGCGCATGGATGAGCGCATGGGAGAGCGCATGGGTGAGCGGATGCAAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGTAGATGGGAGAGCAGATGGGAGAGTGGATGAGAGTGGATGGGAAAGCGGATGAGAGTGGTTGAGGGAGTGGATGGGAGAGCAGATGGGTGAGTGGATGGAAAAGTGGATGGGACTGTGGATGGGAGAGTGGATGAGATTGGATGGGAGAGTGGATGAGAGTGGATGGGTGAGACAGTGGAGGGATGAATGTACCCATGGATAGACTGGGGCTTCGAGACCAGCGGCAAAGCTCACACTGACCTCTGCCTCCAGGTGACGCGGCTCTGTGACCTCTCAGTGGAAGGGGACTCAGTGACCTCCGTGGGCTGGTCTGAGCGGGTGAGTGCAGAGGGCTTGGCCCCCACCTGGGAGATCTGATGGGGCTCTTGACAGTGTTGGGGGCCTTGAAGACCCAGAGGGTCTAGTGCGTGGCCTGAGGTCGCCTGTGTCCAAGCATAGGTCTGTGTCCCCCACTGTCCCCGGCCTTAGTGTGGTCCTGGTAGAGGGAGTAACAGGGATGAGCAGGCACCCACCAGGCCCCTAGAAAGGATGGCAGGTCCAGTGGGGAAATAACGCCCCAGTTCCTTCCATGGGACCTGCCCACCTGGGACTCGCTCCCCTGGAGTTCCATTTTCCACTCAGGGTCGAGTGGGCTTTAGTTCCATTTTAGATTATGATGAAAACATCTCAGCAGCAGCTTTGAAGCATATCATGGGGAGGGTCTGTGCCCCTCACCCAGAGCTGCCCAGGGCTGCCCCTAGCACTCGTAACCGCTCACTGTGTCCAGGCGTGTGCGCTCACCCTCCCTCCATCCATCTTAGGTTTTCATGTGCCTCAAAGTCAGTTGCAGACAGCAACGCATGTTGCCCAGCTCCTGGGCCTGTGTGGAACCTGGAGCTCAGTGTCTGCAGTTTCTCCTTCCCTCTGTGTGAAATGTCCATGTGGGAAGGTCCACGTACCGAGTCTTGGCTGGACTCTGAGAAACCCAGGCGCAGTGTGTGCGGGGTGTGCCCGCCACCCCAGCATGCACTGAGGGGGGTTTATGCTTCTTCCGAAGGGACGTGCATTCGAGAGTCGTTAGGGAAACCGTCCCAGAGCCCTGGTGAGGAGAGAGCCTGGCGCGACCAACGCCAGGACGGGCACAGTCCCCGGGCCAGACCTGACACCGGTGCTCTGCCCATGCCTTCCATCCTAGGGGAACCTGGTGGCGGTGGGCACACACAAGGGCTTCGTGCAGATCTGGGACGCAGCCGCAGGGAAGAAGCTGTCCATGTTGGAGGGCCACACGGCACGCGTCGGTGAGGAGCCCGGGTCCCATGGCTGGTGAGCTCCCTGAGGCCCCAGCTCCGCGAGGGCAGGAGAGGCTCACCCCCGCTTCCACCTGGCCTCCAGGGGCGCTGGCCTGGAATGCTGAGCAGCTGTCGTCCGGGAGCCGCGACCGCATGATCCTGCAGAGGGACATCCGCACCCCGCCACTGCAGTCGGAGCGGCGGCTGCAGGGCCACCGGCAGGAGGTGTGCGGGCTCAAGTGGTCCACAGACCACCAGCTCCTCGCCTCGGGGGGCAACGACAACAAGGTACCCCCGCCCAGAGCCTGGGCTTCCCCTTCACCAGAAGCCGCACCCCTCACACTGGCAGGAACGGAAGAGCCTGGGCTGGGGCGGGCGCGGGCGCGGGGCCCACTCCACAGCCATCAGCAGGGCACCAGGCTTGTCCTTCCTGCTCAGCCAGTCCTGCCCTGTGGCACAGGGTGACGAGTGTGTGCCCCCAGGGGTCCTTGAGGGAGCAGCAGGAGGAGTGTGGGGTGGGGTGCCAGGGCAGGTCGTCACACCTGTGAGGACCGGCCTATGGGACCACAGGGCTGGGACAGCCCCGGCCTCACAGCCCCTGTCCCCCAGCTGCTGGTCTGGAATCACTCGAGCCTGAGCCCCGTGCAGCAGTACACGGAGCACCTGGCGGCCGTGAAGGCCATCGCCTGGTCCCCACATCAGCACGGGCTGCTGGCCTCGGGGGGCGGCACAGCTGACCGCTGTATCCGCTTCTGGAACACGCTGACAGGACAACCACTGCAGTGTATCGACACGGGCTCCCAAGTGTGCAATCTGGCCTGGTCCAAGCACGCCAACGAGCTGGTGAGCACGGGCGGCCCGGCCTCCCACCAGGCCTCAGGATGTGCGTCCTGCTGGCCCCTTACCTGCCACCTGAGAGCAGCCTGTGGGGAGATGGGTCAGAGTCGCTCTGAAGGGAGATGGGCGAGGGAGGCCGAGCGGGGAGGCAGGGAGTTGTGGGGGGCAAGGCCCCTGGGCCTCATCAGGGCCTCACCTGGGGCAAGACTTGGGGCCTCTGGGCCCCCATCGCAGCCACACCTGGCGGCTCTGTGAGGAGCCGGGGAGCTCCTATGGCTGCCTCTGCTTAGAGGGGAGGCCCAGGATGAAGCGGGCTCCACTGAGCACCCTGGCCTGCTCCAGCCACTCCGGGCGTGTCACCAGGACAGTCTCGGGGGTGACTTGCAGGTGGGGCAGAGGGGCTGTGGGCCCCGTTTGGGTCCTTGTTGGGCTCCAGCCTTTGGCGGTGGGTGGAGGGGTCCACCTGTGGCCTCCACACCTCCTAGACAGACTCAGGTGGCAGAGCCACATCCCAGCATCCCCTGCTCCTCCTGGGCTGGCTGGCGGCTCTGAGCTCTCACATGGGCTCAGGCGGGTGCATGTGAGGCAGCAGGCATAGCACCCGGCCTCGTTGCCCCTCACCGACCGCAGCGCCCCCTCCGCCCTCCAGGTGAGCACGCACGGCTACTCACAGAACCAGATCCTTGTCTGGAAGTACCCCTCCCTGACCCAGGTGGCCAAGCTGACCGGGCACTCCTACCGCGTGCTGTACCTGGTGAGTTCACGCCAGGCACTTCAAGGTGCCCCGGGATTCTGGACAAACTGCCATGGCCACCCCAGAGCACCCTGTCCTGTGTTCTTAGGGAGGATGGTGTGCAGATCTAAAACCCCGTGGGACCCAGCAGCAGGGGCCGGCAGGGCATCTGGTGCTGGTTGTGTTGCCAGCGTTGGAATGGGCTCTACCGAACTCCCCAGCCCTGCAGGTGCAGGCCCTGTCCTCCTGGAGGACCTTAGCTTCTTCATTTGTTTATTTTCCCCATAAAGAGGGGTGAAGAGGAAAGCCAAAACCAACTCACAGCTGACCACTCAGATGACCCTGTGAACGTCCTACACAGTAACTGTATGCACGTGGCTGGATGGGGGCCAGGAGGCGTCCTTGGCCCCACGTGCCCTCACTTGCCAAGATTTTGTTTCTTCCCTGAAAAACATGTTCTGTGCTTTCATCCGCGCATCTGACAGTCCCTCATCTGTGCAGAGTTGATGAGCCCCTCTTGCAAGGGGGCGTCCTTTGTGTTTTTGCAAAAATGCTCCAACCTTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCTGCACTTCAGGAAGCCAGGGTGGGAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTACAAAACTTTTTTTAAATGAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGATGGGAGGAT
GTGAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGCGGATGGGTGAGCGGATGGGAGAGCGCATGGGTGAGCAGATGCAAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCGGATGGGAGAGCAGATGGGAGAGTGGATGGGTGAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGCAGGGGAGAGCGGAGGAGAGAGCGGAGGAGAGTGGTTGAGGGAGTGGATGGTTGAGCAGAAGGGAGAGCGGATGGGAGAGCGGATGGGTGAGCAGATGGGTGAGCGGATGGGAGAGCGCATGGGAGAGCGCATGGGAGAGCGGATGGGAGAGCGCATGGGAGAGCGCATGGATGAGCGCATGGGAGAGCGCATGGGTGAGCGGATGCAAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGTAGATGGGAGAGCAGATGGGAGAGTGGATGAGAGTGGATGGGAAAGCGGATGAGAGTGGTTGAGGGAGTGGATGGGAGAGCAGATGGGTGAGTGGATGGAAAAGTGGATGGGACTGTGGATGGGAGAGTGGATGAGATTGGATGGGAGAGTGGATGAGAGTGGATGGGTGAGACAGTGGAGGGATGAATGTACCCATGGATAGACTGGGGCTTCGAGACCAGCGGCAAAGCTCACACTGACCTCTGCCTCCAGGTGACGCGGCTCTGTGACCTCTCAGTGGAAGGGGACTCAGTGACCTCCGTGGGCTGGTCTGAGCGGGTGAGTGCAGAGGGCTTGGCCCCCACCTGGGAGATCTGATGGGGCTCTTGACAGTGTTGGGGGCCTTGAAGACCCAGAGGGTCTAGTGCGTGGCCTGAGGTCGCCTGTGTCCAAGCATAGGTCTGTGTCCCCCACTGTCCCCGGCCTTAGTGTGGTCCTGGTAGAGGGAGTAACAGGGATGAGCAGGCACCCACCAGGCCCCTAGAAAGGATGGCAGGTCCAGTGGGGAAATAACGCCCCAGTTCCTTCCATGGGACCTGCCCACCTGGGACTCGCTCCCCTGGAGTTCCATTTTCCACTCAGGGTCGAGTGGGCTTTAGTTCCATTTTAGATTATGATGAAAACATCTCAGCAGCAGCTTTGAAGCATATCATGGGGAGGGTCTGTGCCCCTCACCCAGAGCTGCCCAGGGCTGCCCCTAGCACTCGTAACCGCTCACTGTGTCCAGGCGTGTGCGCTCACCCTCCCTCCATCCATCTTAGGTTTTCATGTGCCTCAAAGTCAGTTGCAGACAGCAACGCATGTTGCCCAGCTCCTGGGCCTGTGTGGAACCTGGAGCTCAGTGTCTGCAGTTTCTCCTTCCCTCTGTGTGAAATGTCCATGTGGGAAGGTCCACGTACCGAGTCTTGGCTGGACTCTGAGAAACCCAGGCGCAGTGTGTGCGGGGTGTGCCCGCCACCCCAGCATGCACTGAGGGGGGTTTATGCTTCTTCCGAAGGGACGTGCATTCGAGAGTCGTTAGGGAAACCGTCCCAGAGCCCTGGTGAGGAGAGAGCCTGGCGCGACCAACGCCAGGACGGGCACAGTCCCCGGGCCAGACCTGACACCGGTGCTCTGCCCATGCCTTCCATCCTAGGGGAACCTGGTGGCGGTGGGCACACACAAGGGCTTCGTGCAGATCTGGGACGCAGCCGCAGGGAAGAAGCTGTCCATGTTGGAGGGCCACACGGCACGCGTCGGTGAGGAGCCCGGGTCCCATGGCTGGTGAGCTCCCTGAGGCCCCAGCTCCGCGAGGGCAGGAGAGGCTCACCCCCGCTTCCACCTGGCCTCCAGGGGCGCTGGCCTGGAATGCTGAGCAGCTGTCGTCCGGGAGCCGCGACCGCATGATCCTGCAGAGGGACATCCGCACCCCGCCACTGCAGTCGGAGCGGCGGCTGCAGGGCCACCGGCAGGAGGTGTGCGGGCTCAAGTGGTCCACAGACCACCAGCTCCTCGCCTCGGGGGGCAAAGACAACAAGGTACCCCCGCCCAGAGCCTGGGCTTCCCCTTCACCAGAAGCCGCACCCCTCACACTGGCAGGAACGGAAGAGCCTGGGCTGGGGCGGGCGCGGGCGCGGGGCCCACTCCACAGCCATCAGCAGGGCACCAGGCTTGTCCTTCCTGCTCAGCCAGTCCTGCCCTGTGGCACAGGGTGACGAGTGTGTGCCCCCAGGGGTCCTTGAGGGAGCAGCAGGAGGAGTGTGGGGTGGGGTGCCAGGGCAGGTCGTCACACCTGTGAGGACCGGCCTATGGGACCACAGGGCTGGGACAGCCCCGGCCTCACAGCCCCTGTCCCCCAGCTGCTGGTCTGGAATCACTCGAGCCTGAGCCCCGTGCAGCAGTACACGGAGCACCTGGCGGCCGTGAAGGCCATCGCCTGGTCCCCACATCAGCACGGGCTGCTGGCCTCGGGGGGCGGCACAGCTGACCGCTGTATCCGCTTCTGGAACACGCTGACAGGACAACCACTGCAGTGTATCGACACGGGCTCCCAAGTGTGCAATCTGGCCTGGTCCAAGCACGCCAACGAGCTGGTGAGCACGGGCGGCCCGGCCTCCCACCAGGCCTCAGGATGTGCGTCCTGCTGGCCCCTTACCTGCCACCTGAGAGCAGCCTGTGGGGAGATGGGTCAGAGTCGCTCTGAAGGGAGATGGGCGAGGGAGGCCGAGCGGGGAGGCAGGGAGTTGTGGGGGGCAAGGCCCCTGGGCCTCATCAGGGCCTCACCTGGGGCAAGACTTGGGGCCTCTGGGCCCCCATCGCAGCCACACCTGGCGGCTCTGTGAGGAGCCGGGGAGCTCCTATGGCTGCCTCTGCTTAGAGGGGAGGCCCAGGATGAAGCGGGCTCCACTGAGCACCCTGGCCTGCTCCAGCCACTCCGGGCGTGTCACCAGGACAGTCTCGGGGGTGACTTGCAGGTGGGGCAGAGGGGCTGTGGGCCCCGTTTGGGTCCTTGTTGGGCTCCAGCCTTTGGCGGTGGGTGGAGGGGTCCACCTGTGGCCTCCACACCTCCTAGACAGACTCAGGTGGCAGAGCCACATCCCAGCATCCCCTGCTCCTCCTGGGCTGGCTGGCGGCTCTGAGCTCTCACATGGGCTCAGGCGGGTGCATGTGAGGCAGCAGGCATAGCACCCGGCCTCGTTGCCCCTCACCGACCGCAGCGCCCCCTCCGCCCTCCAGGTGAGCACGCACGGCTACTCACAGAACCAGATCCTTGTCTGGAAGTACCCCTCCCTGACCCAGGTGGCCAAGCTGACCGGGCACTCCTACCGCGTGCTGTACCTGGTGAGTTCACGCCAGGCACTTCAAGGTGCCCCGGGATTCTGGACAAACTGCCATGGCCACCCCAGAGCACCCTGTCCTGTGTTCTTAGGGAGGATGGTGTGCAGATCTAAAACCCCGTGGGACCCAGCAGCAGGGGCCGGCAGGGCATCTGGTGCTGGTTGTGTTGCCAGCGTTGGAATGGGCTCTACCGAACTCCCCAGCCCTGCAGGTGCAGGCCCTGTCCTCCTGGAGGACCTTAGCTTCTTCATTTGTTTATTTTCCCCATAAAGAGGGGTGAAGAGGAAAGCCAAAACCAACTCACAGCTGACCACTCAGATGACCCTGTGAACGTCCTACACAGTAACTGTATGCACGTGGCTGGATGGGGGCCAGGAGGCGTCCTTGGCCCCACGTGCCCTCACTTGCCAAGATTTTGTTTCTTCCCTGAAAAACATGTTCTGTGCTTTCATCCGCGCATCTGACAGTCCCTCATCTGTGCAGAGTTGATGAGCCCCTCTTGCAAGGGGGCGTCCTTTGTGTTTTTGCAAAAATGCTCCAACCTTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCTGCACTTCAGGAAGCCAGGGTGGGAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTACAAAACTTTTTTTAAATGAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGATGGGAGGAT
Task1_train_26305
A change on Chromosome 19 affects gene FZR1 (fizzy and cell division cycle 20 related 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Developmental and epileptic encephalopathy 109
GTGAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGCGGATGGGTGAGCGGATGGGAGAGCGCATGGGTGAGCAGATGCAAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCGGATGGGAGAGCAGATGGGAGAGTGGATGGGTGAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGCAGGGGAGAGCGGAGGAGAGAGCGGAGGAGAGTGGTTGAGGGAGTGGATGGTTGAGCAGAAGGGAGAGCGGATGGGAGAGCGGATGGGTGAGCAGATGGGTGAGCGGATGGGAGAGCGCATGGGAGAGCGCATGGGAGAGCGGATGGGAGAGCGCATGGGAGAGCGCATGGATGAGCGCATGGGAGAGCGCATGGGTGAGCGGATGCAAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGTAGATGGGAGAGCAGATGGGAGAGTGGATGAGAGTGGATGGGAAAGCGGATGAGAGTGGTTGAGGGAGTGGATGGGAGAGCAGATGGGTGAGTGGATGGAAAAGTGGATGGGACTGTGGATGGGAGAGTGGATGAGATTGGATGGGAGAGTGGATGAGAGTGGATGGGTGAGACAGTGGAGGGATGAATGTACCCATGGATAGACTGGGGCTTCGAGACCAGCGGCAAAGCTCACACTGACCTCTGCCTCCAGGTGACGCGGCTCTGTGACCTCTCAGTGGAAGGGGACTCAGTGACCTCCGTGGGCTGGTCTGAGCGGGTGAGTGCAGAGGGCTTGGCCCCCACCTGGGAGATCTGATGGGGCTCTTGACAGTGTTGGGGGCCTTGAAGACCCAGAGGGTCTAGTGCGTGGCCTGAGGTCGCCTGTGTCCAAGCATAGGTCTGTGTCCCCCACTGTCCCCGGCCTTAGTGTGGTCCTGGTAGAGGGAGTAACAGGGATGAGCAGGCACCCACCAGGCCCCTAGAAAGGATGGCAGGTCCAGTGGGGAAATAACGCCCCAGTTCCTTCCATGGGACCTGCCCACCTGGGACTCGCTCCCCTGGAGTTCCATTTTCCACTCAGGGTCGAGTGGGCTTTAGTTCCATTTTAGATTATGATGAAAACATCTCAGCAGCAGCTTTGAAGCATATCATGGGGAGGGTCTGTGCCCCTCACCCAGAGCTGCCCAGGGCTGCCCCTAGCACTCGTAACCGCTCACTGTGTCCAGGCGTGTGCGCTCACCCTCCCTCCATCCATCTTAGGTTTTCATGTGCCTCAAAGTCAGTTGCAGACAGCAACGCATGTTGCCCAGCTCCTGGGCCTGTGTGGAACCTGGAGCTCAGTGTCTGCAGTTTCTCCTTCCCTCTGTGTGAAATGTCCATGTGGGAAGGTCCACGTACCGAGTCTTGGCTGGACTCTGAGAAACCCAGGCGCAGTGTGTGCGGGGTGTGCCCGCCACCCCAGCATGCACTGAGGGGGGTTTATGCTTCTTCCGAAGGGACGTGCATTCGAGAGTCGTTAGGGAAACCGTCCCAGAGCCCTGGTGAGGAGAGAGCCTGGCGCGACCAACGCCAGGACGGGCACAGTCCCCGGGCCAGACCTGACACCGGTGCTCTGCCCATGCCTTCCATCCTAGGGGAACCTGGTGGCGGTGGGCACACACAAGGGCTTCGTGCAGATCTGGGACGCAGCCGCAGGGAAGAAGCTGTCCATGTTGGAGGGCCACACGGCACGCGTCGGTGAGGAGCCCGGGTCCCATGGCTGGTGAGCTCCCTGAGGCCCCAGCTCCGCGAGGGCAGGAGAGGCTCACCCCCGCTTCCACCTGGCCTCCAGGGGCGCTGGCCTGGAATGCTGAGCAGCTGTCGTCCGGGAGCCGCGACCGCATGATCCTGCAGAGGGACATCCGCACCCCGCCACTGCAGTCGGAGCGGCGGCTGCAGGGCCACCGGCAGGAGGTGTGCGGGCTCAAGTGGTCCACAGACCACCAGCTCCTCGCCTCGGGGGGCAACGACAACAAGGTACCCCCGCCCAGAGCCTGGGCTTCCCCTTCACCAGAAGCCGCACCCCTCACACTGGCAGGAACGGAAGAGCCTGGGCTGGGGCGGGCGCGGGCGCGGGGCCCACTCCACAGCCATCAGCAGGGCACCAGGCTTGTCCTTCCTGCTCAGCCAGTCCTGCCCTGTGGCACAGGGTGACGAGTGTGTGCCCCCAGGGGTCCTTGAGGGAGCAGCAGGAGGAGTGTGGGGTGGGGTGCCAGGGCAGGTCGTCACACCTGTGAGGACCGGCCTATGGGACCACAGGGCTGGGACAGCCCCGGCCTCACAGCCCCTGTCCCCCAGCTGCTGGTCTGGAATCACTCGAGCCTGAGCCCCGTGCAGCAGTACACGGAGCACCTGGCGGCCGTGAAGGCCATCGCCTGGTCCCCACATCAGCACGGGCTGCTGGCCTCGGGGGGCGGCACAGCTGACCGCTGTATCCGCTTCTGGAACACGCTGACAGGACAACCACTGCAGTGTATCGACACGGGCTCCCAAGTGTGCAATCTGGCCTGGTCCAAGCACGCCAACGAGCTGGTGAGCACGGGCGGCCCGGCCTCCCACCAGGCCTCAGGATGTGCGTCCTGCTGGCCCCTTACCTGCCACCTGAGAGCAGCCTGTGGGGAGATGGGTCAGAGTCGCTCTGAAGGGAGATGGGCGAGGGAGGCCGAGCGGGGAGGCAGGGAGTTGTGGGGGGCAAGGCCCCTGGGCCTCATCAGGGCCTCACCTGGGGCAAGACTTGGGGCCTCTGGGCCCCCATCGCAGCCACACCTGGCGGCTCTGTGAGGAGCCGGGGAGCTCCTATGGCTGCCTCTGCTTAGAGGGGAGGCCCAGGATGAAGCGGGCTCCACTGAGCACCCTGGCCTGCTCCAGCCACTCCGGGCGTGTCACCAGGACAGTCTCGGGGGTGACTTGCAGGTGGGGCAGAGGGGCTGTGGGCCCCGTTTGGGTCCTTGTTGGGCTCCAGCCTTTGGCGGTGGGTGGAGGGGTCCACCTGTGGCCTCCACACCTCCTAGACAGACTCAGGTGGCAGAGCCACATCCCAGCATCCCCTGCTCCTCCTGGGCTGGCTGGCGGCTCTGAGCTCTCACATGGGCTCAGGCGGGTGCATGTGAGGCAGCAGGCATAGCACCCGGCCTCGTTGCCCCTCACCGACCGCAGCGCCCCCTCCGCCCTCCAGGTGAGCACGCACGGCTACTCACAGAACCAGATCCTTGTCTGGAAGTACCCCTCCCTGACCCAGGTGGCCAAGCTGACCGGGCACTCCTACCGCGTGCTGTACCTGGTGAGTTCACGCCAGGCACTTCAAGGTGCCCCGGGATTCTGGACAAACTGCCATGGCCACCCCAGAGCACCCTGTCCTGTGTTCTTAGGGAGGATGGTGTGCAGATCTAAAACCCCGTGGGACCCAGCAGCAGGGGCCGGCAGGGCATCTGGTGCTGGTTGTGTTGCCAGCGTTGGAATGGGCTCTACCGAACTCCCCAGCCCTGCAGGTGCAGGCCCTGTCCTCCTGGAGGACCTTAGCTTCTTCATTTGTTTATTTTCCCCATAAAGAGGGGTGAAGAGGAAAGCCAAAACCAACTCACAGCTGACCACTCAGATGACCCTGTGAACGTCCTACACAGTAACTGTATGCACGTGGCTGGATGGGGGCCAGGAGGCGTCCTTGGCCCCACGTGCCCTCACTTGCCAAGATTTTGTTTCTTCCCTGAAAAACATGTTCTGTGCTTTCATCCGCGCATCTGACAGTCCCTCATCTGTGCAGAGTTGATGAGCCCCTCTTGCAAGGGGGCGTCCTTTGTGTTTTTGCAAAAATGCTCCAACCTTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCTGCACTTCAGGAAGCCAGGGTGGGAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTACAAAACTTTTTTTAAATGAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGATGGGAGGAT
GTGAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGAGTGGATGAGAGTGGTTGAGGGAGCGGATGGGTGAGCGGATGGGAGAGCGCATGGGTGAGCAGATGCAAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCGGATGGGAGAGCAGATGGGAGAGTGGATGGGTGAGCGGATGGGAGAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGCAGGGGAGAGCGGAGGAGAGAGCGGAGGAGAGTGGTTGAGGGAGTGGATGGTTGAGCAGAAGGGAGAGCGGATGGGAGAGCGGATGGGTGAGCAGATGGGTGAGCGGATGGGAGAGCGCATGGGAGAGCGCATGGGAGAGCGGATGGGAGAGCGCATGGGAGAGCGCATGGATGAGCGCATGGGAGAGCGCATGGGTGAGCGGATGCAAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGTAGATGGGAGAGCAGATGGGAGAGTGGATGAGAGTGGATGGGAAAGCGGATGAGAGTGGTTGAGGGAGTGGATGGGAGAGCAGATGGGTGAGTGGATGGAAAAGTGGATGGGACTGTGGATGGGAGAGTGGATGAGATTGGATGGGAGAGTGGATGAGAGTGGATGGGTGAGACAGTGGAGGGATGAATGTACCCATGGATAGACTGGGGCTTCGAGACCAGCGGCAAAGCTCACACTGACCTCTGCCTCCAGGTGACGCGGCTCTGTGACCTCTCAGTGGAAGGGGACTCAGTGACCTCCGTGGGCTGGTCTGAGCGGGTGAGTGCAGAGGGCTTGGCCCCCACCTGGGAGATCTGATGGGGCTCTTGACAGTGTTGGGGGCCTTGAAGACCCAGAGGGTCTAGTGCGTGGCCTGAGGTCGCCTGTGTCCAAGCATAGGTCTGTGTCCCCCACTGTCCCCGGCCTTAGTGTGGTCCTGGTAGAGGGAGTAACAGGGATGAGCAGGCACCCACCAGGCCCCTAGAAAGGATGGCAGGTCCAGTGGGGAAATAACGCCCCAGTTCCTTCCATGGGACCTGCCCACCTGGGACTCGCTCCCCTGGAGTTCCATTTTCCACTCAGGGTCGAGTGGGCTTTAGTTCCATTTTAGATTATGATGAAAACATCTCAGCAGCAGCTTTGAAGCATATCATGGGGAGGGTCTGTGCCCCTCACCCAGAGCTGCCCAGGGCTGCCCCTAGCACTCGTAACCGCTCACTGTGTCCAGGCGTGTGCGCTCACCCTCCCTCCATCCATCTTAGGTTTTCATGTGCCTCAAAGTCAGTTGCAGACAGCAACGCATGTTGCCCAGCTCCTGGGCCTGTGTGGAACCTGGAGCTCAGTGTCTGCAGTTTCTCCTTCCCTCTGTGTGAAATGTCCATGTGGGAAGGTCCACGTACCGAGTCTTGGCTGGACTCTGAGAAACCCAGGCGCAGTGTGTGCGGGGTGTGCCCGCCACCCCAGCATGCACTGAGGGGGGTTTATGCTTCTTCCGAAGGGACGTGCATTCGAGAGTCGTTAGGGAAACCGTCCCAGAGCCCTGGTGAGGAGAGAGCCTGGCGCGACCAACGCCAGGACGGGCACAGTCCCCGGGCCAGACCTGACACCGGTGCTCTGCCCATGCCTTCCATCCTAGGGGAACCTGGTGGCGGTGGGCACACACAAGGGCTTCGTGCAGATCTGGGACGCAGCCGCAGGGAAGAAGCTGTCCATGTTGGAGGGCCACACGGCACGCGTCGGTGAGGAGCCCGGGTCCCATGGCTGGTGAGCTCCCTGAGGCCCCAGCTCCGCGAGGGCAGGAGAGGCTCACCCCCGCTTCCACCTGGCCTCCAGGGGCGCTGGCCTGGAATGCTGAGCAGCTGTCGTCCGGGAGCCGCGACCGCATGATCCTGCAGAGGGACATCCGCACCCCGCCACTGCAGTCGGAGCGGCGGCTGCAGGGCCACCGGCAGGAGGTGTGCGGGCTCAAGTGGTCCACAGACCACCAGCTCCTCGCCTCGGGGGGCAAGGACAACAAGGTACCCCCGCCCAGAGCCTGGGCTTCCCCTTCACCAGAAGCCGCACCCCTCACACTGGCAGGAACGGAAGAGCCTGGGCTGGGGCGGGCGCGGGCGCGGGGCCCACTCCACAGCCATCAGCAGGGCACCAGGCTTGTCCTTCCTGCTCAGCCAGTCCTGCCCTGTGGCACAGGGTGACGAGTGTGTGCCCCCAGGGGTCCTTGAGGGAGCAGCAGGAGGAGTGTGGGGTGGGGTGCCAGGGCAGGTCGTCACACCTGTGAGGACCGGCCTATGGGACCACAGGGCTGGGACAGCCCCGGCCTCACAGCCCCTGTCCCCCAGCTGCTGGTCTGGAATCACTCGAGCCTGAGCCCCGTGCAGCAGTACACGGAGCACCTGGCGGCCGTGAAGGCCATCGCCTGGTCCCCACATCAGCACGGGCTGCTGGCCTCGGGGGGCGGCACAGCTGACCGCTGTATCCGCTTCTGGAACACGCTGACAGGACAACCACTGCAGTGTATCGACACGGGCTCCCAAGTGTGCAATCTGGCCTGGTCCAAGCACGCCAACGAGCTGGTGAGCACGGGCGGCCCGGCCTCCCACCAGGCCTCAGGATGTGCGTCCTGCTGGCCCCTTACCTGCCACCTGAGAGCAGCCTGTGGGGAGATGGGTCAGAGTCGCTCTGAAGGGAGATGGGCGAGGGAGGCCGAGCGGGGAGGCAGGGAGTTGTGGGGGGCAAGGCCCCTGGGCCTCATCAGGGCCTCACCTGGGGCAAGACTTGGGGCCTCTGGGCCCCCATCGCAGCCACACCTGGCGGCTCTGTGAGGAGCCGGGGAGCTCCTATGGCTGCCTCTGCTTAGAGGGGAGGCCCAGGATGAAGCGGGCTCCACTGAGCACCCTGGCCTGCTCCAGCCACTCCGGGCGTGTCACCAGGACAGTCTCGGGGGTGACTTGCAGGTGGGGCAGAGGGGCTGTGGGCCCCGTTTGGGTCCTTGTTGGGCTCCAGCCTTTGGCGGTGGGTGGAGGGGTCCACCTGTGGCCTCCACACCTCCTAGACAGACTCAGGTGGCAGAGCCACATCCCAGCATCCCCTGCTCCTCCTGGGCTGGCTGGCGGCTCTGAGCTCTCACATGGGCTCAGGCGGGTGCATGTGAGGCAGCAGGCATAGCACCCGGCCTCGTTGCCCCTCACCGACCGCAGCGCCCCCTCCGCCCTCCAGGTGAGCACGCACGGCTACTCACAGAACCAGATCCTTGTCTGGAAGTACCCCTCCCTGACCCAGGTGGCCAAGCTGACCGGGCACTCCTACCGCGTGCTGTACCTGGTGAGTTCACGCCAGGCACTTCAAGGTGCCCCGGGATTCTGGACAAACTGCCATGGCCACCCCAGAGCACCCTGTCCTGTGTTCTTAGGGAGGATGGTGTGCAGATCTAAAACCCCGTGGGACCCAGCAGCAGGGGCCGGCAGGGCATCTGGTGCTGGTTGTGTTGCCAGCGTTGGAATGGGCTCTACCGAACTCCCCAGCCCTGCAGGTGCAGGCCCTGTCCTCCTGGAGGACCTTAGCTTCTTCATTTGTTTATTTTCCCCATAAAGAGGGGTGAAGAGGAAAGCCAAAACCAACTCACAGCTGACCACTCAGATGACCCTGTGAACGTCCTACACAGTAACTGTATGCACGTGGCTGGATGGGGGCCAGGAGGCGTCCTTGGCCCCACGTGCCCTCACTTGCCAAGATTTTGTTTCTTCCCTGAAAAACATGTTCTGTGCTTTCATCCGCGCATCTGACAGTCCCTCATCTGTGCAGAGTTGATGAGCCCCTCTTGCAAGGGGGCGTCCTTTGTGTTTTTGCAAAAATGCTCCAACCTTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCTGCACTTCAGGAAGCCAGGGTGGGAGGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTACAAAACTTTTTTTAAATGAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGATGGGAGGAT
Task1_train_26306
The following genetic variant occurs in GIPC3 (GIPC PDZ domain containing family member 3) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Autosomal recessive nonsyndromic hearing loss 15
CTGTGCCCTGGACACTGGGCATGGGGACAGAGCAGGGGAACAGCCCCCACCCTCCTGGAGCTGACATTCCTCCAGTCCTGGGGACAAACAGGACAAAAGATGAAATGAAATATCAGCAGGGGGCTGGGGCTCAAGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCGGGAGGATTCCTTGAGGTCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAACTAATCAGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTTGGCAAGAGAGAGAGACTCCGTCTCAAAAAATAAAATAAAATAAAATATCTGATATGTCAGATGGTAGCTTTAAATGCTGAAGAGAAGCTGGGCACAGTGGCTCACATCTGTAATCCTAGCACTTTGGGAGGCCAAGGCTGAAGGATGGCCTGAACCTCCTGGTCTTGAGTTTGAGACCAGCCTGGGCAACACAGTGAGATCCCAACTGTACAAAAAATTAATCATGTTTCTAAATTAAATTTTAAAAAACTGAATGCGGCCGGGTGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGGGTTCGAGACAAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAATTAGCCAGGCATGGTGGTGTGCGCCTATAATCCCAGCTACTAGGGGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTCTCCAAAATCAAACAAACAAACCAAAGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCTTTTTTGGAGGCTAAGGTGGGTGGATTCCTGAGGTCAGGAGTTCAAGACCATCCTGGCCAACATGGTGAAACCTCATCTCTATTAAAAATACAAAAAAATTAGCCGGGCATGGTGGTATATGCCTGTAATCCCAGCTACTGGGGAGGCCGAGGCATGAGAATTGCTTGAACCTGGTGGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCCAAACTGGGTGACAGAGCGAGACTCCAGCTCAAAATAAATAAATAAATAAAAATAATAAAATAAAATAAAACAATGACCTCGCCTAGCAGAGGGTGAGTGCTCCAGCACCCTCAGCTGTCCCTGTCCTTTTTTTTTTTTTTTTTTTTTTTTTTGCGACGGAGTCTCGCTTTGTTGCCCAGGCTGGAGTGTAATGGCGCCATCTCAGCTCACTGCCACCTCCGCCTCCCGGGTTCAAGAGATCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGTCCGGCTGATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCAGGTCATCTGCCCGCTTCGGCCTCCCAAAGTGCTGGAATTACAGACGTGAGCCACCGCTCCAGGCCTGTCCCTGTCCTTATTTGTGGTCCCTGTTCTTCCAGGGTCCTGAGCTCAGGCCCCCCCGGACTGCGGGTATCCCCGGGGAGGGCACAGCTGGCCCTGGCAGGGCCCGGACACCTGGGGCCCGACCCACCCCTGCGCACCCCGCGGTGTCGCCTTCCCGGGAGGCTCGGGTTCCCAGATCCCCTTACCCGGGCGTCTCGGCTGTCGCGCCCTGGGCCGGGGGAGGGGAGGCTGCAGGAAGCGGCGGATCCGGCGGCGGCGGCGAGGGCCCGGGTGGGTGGCCGAACTTCTCCCGCCATGGAGGGAGCAGCGGCCCGGGAGGCCCGGGGGACCGAGACCCCGCGCGCGTCTGCGCCCCCGCCCGCGCCCTCGGAGCCCCCGGCCGCGCCCCGCGCCCGCCCGCGCCTCGTCTTCCGCACGCAGCTGGCGCACGGGAGCCCCACGGGCAAGATCGAGGGCTTCACCAACGTCCGCGAGCTGTACGCCAAGATCGCCGAAGCCTTCGGGATCGCGCCCACCGAGGTAAGGAGCCCGGACACCGGCGCCCAAGACCACCCGCCTGATGGGGTGAGGGGTAGGGAGCTTGGACCCTGGACGGGAGACCCCAGATCCCCGGATCCCAGACGTCGGGGTGGCCGCCTAATCGCCGGATCTCAGAGACCCAGCCCTCAGATCCCGGGGTGCCACACTCCCAGGGGCCCCCTTTGCACGCTCTGCGCAAAAGATGGGCAGGTCTTAGGACTAGCGGACCCCTAGATATTCCAGAAAATCCTCTGCGCAGACCTAGCTTGGAGCGGACCCCAGCCCTCGGGGAAGCGCCTCTGTGCTTCCTGGGCGTAGCTGGGGTCTGGGGTTCCAGATGGCCCCCTTAGGGATGGGAAGTTTGAGGCCGCCGTGGGGTTGGGGGGTTCCTGGGCGTTTTTCCAATCCGGGTTCGTTTGGTTTGCAGCCCCCAGGGGGCGCCAGCAGATTAAACCTGGAGGTCTGGGGGCTGGAGGTCCCGGGGTATGGAGAGGGGTCTCCACCTGCTGGAAGTCTCCTTCTCCCTCCTCTCTCTGTTCTGGGGGTCCCACGCCCTGCCCTTTCCCATGGGCTGGGATCCTGGTCGCTGGGGGCAGGGGCCTGCGCAGACAGGGTGGCTGCGTGGGGGGATGCATGCCCTGGCTAACTCTAGGCTCCTTCTCCCCCGGGAAGATTTTATTCTGCACCCTCAACAGCCACAAAGTGGACATGCAGAAGCTCCTGGGGGGTCAGATAGGCCTGGAGGACTTCATCTTTGCCCACGTGCGAGGCGAGACCAAGGAGGTGGAGGTCACTAAGACAGAGGATGCTCTGGGGCTGACCATCACGGACAACGGGGCTGGCTACGCCTTCATCAAGGTGCCCGGGAGGGGGTGGGCGGGTGGCTTCCTGGGGTCCAGCAACTGCCCCCCCCACTCTGGGTCGACGTGGGTTCTGCGGATTGGAGGCGGGTGGCTGGGGTTGCCCTGCCAGCGACGCTGGATCCCTGCAGAGAATCAAGGAAGGCAGTATCATCAACCGGATCGAGGCAGTGTGCGTGGGTGACAGCATCGAAGCCATCAACGACCACTCCATTGTGGGCTGCCGCCACTACGAGGTGGCCAAGATGCTCCGGGAGCTGCCCAAGTCCCAGCCCTTCACCCTGCGCCTGGTGCAGCCCAAGAGGGCCTTCGGTGAGGCGGGTGGGCTGGCGGGAGCTCTTCCCGAAGTGCGTTCTACGGATGCCTGGGGTGGAGGAGGGTCGGGGATGGGACGGGCTGGAAGGTTCTAGGTGCACCCGCTGCGTGCCAAGGAGCTCCTGGCAGGGTATCAGAAACTCGTAGGTAGTTTCTATTAATAGATTGTTATGGAGTCAGCCTGTGGGGGAGGGGTGGGGGAGAGACTGGGTAAAGTGGAGTTGGAGGAGGACGCGTCCAGAACCACTTTGGAGCCAGGCTGGGAGACTTGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGACGGAGTCTCACTCTGTTGCCTGGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAATCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCATTGCGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGACCAGTCTGGTCTCGAACTTCTGACCTCAAGTGCTCCACCCGCCTCAGTCTCCCAAAATGCTAGGATTATAGGCGTGAGCCACCGCGCGCAGCCTGGGAACTTTTAAAGCAGTGCTTTGAGGTCATGGTGGATTGTAGAGAATGAGAATATGAGAAAAAAGTTTTCTTTCTTTTCTTTTTTTTTTCCTTTCTTTTTTCTTTTCTTTTCTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCCAGACTGCAGTGCAGTGGCTAGATTTCAGCTCACTGCAAGCTCCGCCT
CTGTGCCCTGGACACTGGGCATGGGGACAGAGCAGGGGAACAGCCCCCACCCTCCTGGAGCTGACATTCCTCCAGTCCTGGGGACAAACAGGACAAAAGATGAAATGAAATATCAGCAGGGGGCTGGGGCTCAAGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCGGGAGGATTCCTTGAGGTCAGGAGTTCGAGACCATCCTGGCCAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAACTAATCAGGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTTGGCAAGAGAGAGAGACTCCGTCTCAAAAAATAAAATAAAATAAAATATCTGATATGTCAGATGGTAGCTTTAAATGCTGAAGAGAAGCTGGGCACAGTGGCTCACATCTGTAATCCTAGCACTTTGGGAGGCCAAGGCTGAAGGATGGCCTGAACCTCCTGGTCTTGAGTTTGAGACCAGCCTGGGCAACACAGTGAGATCCCAACTGTACAAAAAATTAATCATGTTTCTAAATTAAATTTTAAAAAACTGAATGCGGCCGGGTGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGGGTTCGAGACAAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAATTAGCCAGGCATGGTGGTGTGCGCCTATAATCCCAGCTACTAGGGGGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCGACAGAGCTAGACTCCGTCTCCAAAATCAAACAAACAAACCAAAGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCTTTTTTGGAGGCTAAGGTGGGTGGATTCCTGAGGTCAGGAGTTCAAGACCATCCTGGCCAACATGGTGAAACCTCATCTCTATTAAAAATACAAAAAAATTAGCCGGGCATGGTGGTATATGCCTGTAATCCCAGCTACTGGGGAGGCCGAGGCATGAGAATTGCTTGAACCTGGTGGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCCAAACTGGGTGACAGAGCGAGACTCCAGCTCAAAATAAATAAATAAATAAAAATAATAAAATAAAATAAAACAATGACCTCGCCTAGCAGAGGGTGAGTGCTCCAGCACCCTCAGCTGTCCCTGTCCTTTTTTTTTTTTTTTTTTTTTTTTTTGCGACGGAGTCTCGCTTTGTTGCCCAGGCTGGAGTGTAATGGCGCCATCTCAGCTCACTGCCACCTCCGCCTCCCGGGTTCAAGAGATCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGTCCGGCTGATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCAGGTCATCTGCCCGCTTCGGCCTCCCAAAGTGCTGGAATTACAGACGTGAGCCACCGCTCCAGGCCTGTCCCTGTCCTTATTTGTGGTCCCTGTTCTTCCAGGGTCCTGAGCTCAGGCCCCCCCGGACTGCGGGTATCCCCGGGGAGGGCACAGCTGGCCCTGGCAGGGCCCGGACACCTGGGGCCCGACCCACCCCTGCGCACCCCGCGGTGTCGCCTTCCCGGGAGGCTCGGGTTCCCAGATCCCCTTACCCGGGCGTCTCGGCTGTCGCGCCCTGGGCCGGGGGAGGGGAGGCTGCAGGAAGCGGCGGATCCGGCGGCGGCGGCGAGGGCCCGGGTGGGTGGCCGAACTTCTCCCGCCATGGAGGGAGCAGCGGCCCGGGAGGCCCGGGGGACCGAGACCCCGCGCGCGTCTGCGCCCCCGCCCGCGCCCTCGGAGCCCCCGGCCGCGCCCCGCGCCCGCCCGCGCCTCGTCTTCCGCACGCAGCTGGCGCACAGGAGCCCCACGGGCAAGATCGAGGGCTTCACCAACGTCCGCGAGCTGTACGCCAAGATCGCCGAAGCCTTCGGGATCGCGCCCACCGAGGTAAGGAGCCCGGACACCGGCGCCCAAGACCACCCGCCTGATGGGGTGAGGGGTAGGGAGCTTGGACCCTGGACGGGAGACCCCAGATCCCCGGATCCCAGACGTCGGGGTGGCCGCCTAATCGCCGGATCTCAGAGACCCAGCCCTCAGATCCCGGGGTGCCACACTCCCAGGGGCCCCCTTTGCACGCTCTGCGCAAAAGATGGGCAGGTCTTAGGACTAGCGGACCCCTAGATATTCCAGAAAATCCTCTGCGCAGACCTAGCTTGGAGCGGACCCCAGCCCTCGGGGAAGCGCCTCTGTGCTTCCTGGGCGTAGCTGGGGTCTGGGGTTCCAGATGGCCCCCTTAGGGATGGGAAGTTTGAGGCCGCCGTGGGGTTGGGGGGTTCCTGGGCGTTTTTCCAATCCGGGTTCGTTTGGTTTGCAGCCCCCAGGGGGCGCCAGCAGATTAAACCTGGAGGTCTGGGGGCTGGAGGTCCCGGGGTATGGAGAGGGGTCTCCACCTGCTGGAAGTCTCCTTCTCCCTCCTCTCTCTGTTCTGGGGGTCCCACGCCCTGCCCTTTCCCATGGGCTGGGATCCTGGTCGCTGGGGGCAGGGGCCTGCGCAGACAGGGTGGCTGCGTGGGGGGATGCATGCCCTGGCTAACTCTAGGCTCCTTCTCCCCCGGGAAGATTTTATTCTGCACCCTCAACAGCCACAAAGTGGACATGCAGAAGCTCCTGGGGGGTCAGATAGGCCTGGAGGACTTCATCTTTGCCCACGTGCGAGGCGAGACCAAGGAGGTGGAGGTCACTAAGACAGAGGATGCTCTGGGGCTGACCATCACGGACAACGGGGCTGGCTACGCCTTCATCAAGGTGCCCGGGAGGGGGTGGGCGGGTGGCTTCCTGGGGTCCAGCAACTGCCCCCCCCACTCTGGGTCGACGTGGGTTCTGCGGATTGGAGGCGGGTGGCTGGGGTTGCCCTGCCAGCGACGCTGGATCCCTGCAGAGAATCAAGGAAGGCAGTATCATCAACCGGATCGAGGCAGTGTGCGTGGGTGACAGCATCGAAGCCATCAACGACCACTCCATTGTGGGCTGCCGCCACTACGAGGTGGCCAAGATGCTCCGGGAGCTGCCCAAGTCCCAGCCCTTCACCCTGCGCCTGGTGCAGCCCAAGAGGGCCTTCGGTGAGGCGGGTGGGCTGGCGGGAGCTCTTCCCGAAGTGCGTTCTACGGATGCCTGGGGTGGAGGAGGGTCGGGGATGGGACGGGCTGGAAGGTTCTAGGTGCACCCGCTGCGTGCCAAGGAGCTCCTGGCAGGGTATCAGAAACTCGTAGGTAGTTTCTATTAATAGATTGTTATGGAGTCAGCCTGTGGGGGAGGGGTGGGGGAGAGACTGGGTAAAGTGGAGTTGGAGGAGGACGCGTCCAGAACCACTTTGGAGCCAGGCTGGGAGACTTGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGACGGAGTCTCACTCTGTTGCCTGGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAATCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCATTGCGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGACCAGTCTGGTCTCGAACTTCTGACCTCAAGTGCTCCACCCGCCTCAGTCTCCCAAAATGCTAGGATTATAGGCGTGAGCCACCGCGCGCAGCCTGGGAACTTTTAAAGCAGTGCTTTGAGGTCATGGTGGATTGTAGAGAATGAGAATATGAGAAAAAAGTTTTCTTTCTTTTCTTTTTTTTTTCCTTTCTTTTTTCTTTTCTTTTCTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCCAGACTGCAGTGCAGTGGCTAGATTTCAGCTCACTGCAAGCTCCGCCT
Task1_train_26307
This variant impacts the gene GIPC3 (GIPC PDZ domain containing family member 3) on Chromosome 19. Is the change likely to result in a pathogenic outcome?
Pathogenic; Autosomal recessive nonsyndromic hearing loss 15
TAAATAAAAATAATAAAATAAAATAAAACAATGACCTCGCCTAGCAGAGGGTGAGTGCTCCAGCACCCTCAGCTGTCCCTGTCCTTTTTTTTTTTTTTTTTTTTTTTTTTGCGACGGAGTCTCGCTTTGTTGCCCAGGCTGGAGTGTAATGGCGCCATCTCAGCTCACTGCCACCTCCGCCTCCCGGGTTCAAGAGATCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGTCCGGCTGATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCAGGTCATCTGCCCGCTTCGGCCTCCCAAAGTGCTGGAATTACAGACGTGAGCCACCGCTCCAGGCCTGTCCCTGTCCTTATTTGTGGTCCCTGTTCTTCCAGGGTCCTGAGCTCAGGCCCCCCCGGACTGCGGGTATCCCCGGGGAGGGCACAGCTGGCCCTGGCAGGGCCCGGACACCTGGGGCCCGACCCACCCCTGCGCACCCCGCGGTGTCGCCTTCCCGGGAGGCTCGGGTTCCCAGATCCCCTTACCCGGGCGTCTCGGCTGTCGCGCCCTGGGCCGGGGGAGGGGAGGCTGCAGGAAGCGGCGGATCCGGCGGCGGCGGCGAGGGCCCGGGTGGGTGGCCGAACTTCTCCCGCCATGGAGGGAGCAGCGGCCCGGGAGGCCCGGGGGACCGAGACCCCGCGCGCGTCTGCGCCCCCGCCCGCGCCCTCGGAGCCCCCGGCCGCGCCCCGCGCCCGCCCGCGCCTCGTCTTCCGCACGCAGCTGGCGCACGGGAGCCCCACGGGCAAGATCGAGGGCTTCACCAACGTCCGCGAGCTGTACGCCAAGATCGCCGAAGCCTTCGGGATCGCGCCCACCGAGGTAAGGAGCCCGGACACCGGCGCCCAAGACCACCCGCCTGATGGGGTGAGGGGTAGGGAGCTTGGACCCTGGACGGGAGACCCCAGATCCCCGGATCCCAGACGTCGGGGTGGCCGCCTAATCGCCGGATCTCAGAGACCCAGCCCTCAGATCCCGGGGTGCCACACTCCCAGGGGCCCCCTTTGCACGCTCTGCGCAAAAGATGGGCAGGTCTTAGGACTAGCGGACCCCTAGATATTCCAGAAAATCCTCTGCGCAGACCTAGCTTGGAGCGGACCCCAGCCCTCGGGGAAGCGCCTCTGTGCTTCCTGGGCGTAGCTGGGGTCTGGGGTTCCAGATGGCCCCCTTAGGGATGGGAAGTTTGAGGCCGCCGTGGGGTTGGGGGGTTCCTGGGCGTTTTTCCAATCCGGGTTCGTTTGGTTTGCAGCCCCCAGGGGGCGCCAGCAGATTAAACCTGGAGGTCTGGGGGCTGGAGGTCCCGGGGTATGGAGAGGGGTCTCCACCTGCTGGAAGTCTCCTTCTCCCTCCTCTCTCTGTTCTGGGGGTCCCACGCCCTGCCCTTTCCCATGGGCTGGGATCCTGGTCGCTGGGGGCAGGGGCCTGCGCAGACAGGGTGGCTGCGTGGGGGGATGCATGCCCTGGCTAACTCTAGGCTCCTTCTCCCCCGGGAAGATTTTATTCTGCACCCTCAACAGCCACAAAGTGGACATGCAGAAGCTCCTGGGGGGTCAGATAGGCCTGGAGGACTTCATCTTTGCCCACGTGCGAGGCGAGACCAAGGAGGTGGAGGTCACTAAGACAGAGGATGCTCTGGGGCTGACCATCACGGACAACGGGGCTGGCTACGCCTTCATCAAGGTGCCCGGGAGGGGGTGGGCGGGTGGCTTCCTGGGGTCCAGCAACTGCCCCCCCCACTCTGGGTCGACGTGGGTTCTGCGGATTGGAGGCGGGTGGCTGGGGTTGCCCTGCCAGCGACGCTGGATCCCTGCAGAGAATCAAGGAAGGCAGTATCATCAACCGGATCGAGGCAGTGTGCGTGGGTGACAGCATCGAAGCCATCAACGACCACTCCATTGTGGGCTGCCGCCACTACGAGGTGGCCAAGATGCTCCGGGAGCTGCCCAAGTCCCAGCCCTTCACCCTGCGCCTGGTGCAGCCCAAGAGGGCCTTCGGTGAGGCGGGTGGGCTGGCGGGAGCTCTTCCCGAAGTGCGTTCTACGGATGCCTGGGGTGGAGGAGGGTCGGGGATGGGACGGGCTGGAAGGTTCTAGGTGCACCCGCTGCGTGCCAAGGAGCTCCTGGCAGGGTATCAGAAACTCGTAGGTAGTTTCTATTAATAGATTGTTATGGAGTCAGCCTGTGGGGGAGGGGTGGGGGAGAGACTGGGTAAAGTGGAGTTGGAGGAGGACGCGTCCAGAACCACTTTGGAGCCAGGCTGGGAGACTTGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGACGGAGTCTCACTCTGTTGCCTGGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAATCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCATTGCGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGACCAGTCTGGTCTCGAACTTCTGACCTCAAGTGCTCCACCCGCCTCAGTCTCCCAAAATGCTAGGATTATAGGCGTGAGCCACCGCGCGCAGCCTGGGAACTTTTAAAGCAGTGCTTTGAGGTCATGGTGGATTGTAGAGAATGAGAATATGAGAAAAAAGTTTTCTTTCTTTTCTTTTTTTTTTCCTTTCTTTTTTCTTTTCTTTTCTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCCAGACTGCAGTGCAGTGGCTAGATTTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTAGTAGAGATGAGGTTTTACCGTGTTAGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCGCGCCTGGCCGTGCCAGCTAATTTTTAATTTTTTTCTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCGAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCCTGCCCATTTTTTTTCATAACTAGACTTTCTCAATGAAGAAAACAGTGTATTGATTTACACACTAGCACATTCTCCTCATGTAGCCATGGGTTGGCCCTTTGGATAGCGTTGTTCTATAGAACAGAGACAGAGATTCTAGAAGTGCCCCAGCACACATGGAGAGACGTCCCAGGGAGAGTGAGCTGTATGGGGTTCTAGAATCTGCCCTGCCGTGGCTGTGAACTCCAAAAGCCATGCCTAAAAATAGAGTTTAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGTGATCCATCGTATCAAAAAAAAAAAAAAAAAAACCTGGCTGGGTGCAGTGGCTCAAGCCTGTAATCCCAGTACTTTGGAAGGCCAAGGCGGGTGCATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGCTGCAGTAAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGTGACAGAGCAAGACAACATCTCAAAAAAAAAAAAAAAAATCAAGCTTAGTCTGAGACTAAACCCAGCTCTAGAGCCCAGGCCAGCTCTCAGAC
TAAATAAAAATAATAAAATAAAATAAAACAATGACCTCGCCTAGCAGAGGGTGAGTGCTCCAGCACCCTCAGCTGTCCCTGTCCTTTTTTTTTTTTTTTTTTTTTTTTTTGCGACGGAGTCTCGCTTTGTTGCCCAGGCTGGAGTGTAATGGCGCCATCTCAGCTCACTGCCACCTCCGCCTCCCGGGTTCAAGAGATCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGTCCGGCTGATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCAGGTCATCTGCCCGCTTCGGCCTCCCAAAGTGCTGGAATTACAGACGTGAGCCACCGCTCCAGGCCTGTCCCTGTCCTTATTTGTGGTCCCTGTTCTTCCAGGGTCCTGAGCTCAGGCCCCCCCGGACTGCGGGTATCCCCGGGGAGGGCACAGCTGGCCCTGGCAGGGCCCGGACACCTGGGGCCCGACCCACCCCTGCGCACCCCGCGGTGTCGCCTTCCCGGGAGGCTCGGGTTCCCAGATCCCCTTACCCGGGCGTCTCGGCTGTCGCGCCCTGGGCCGGGGGAGGGGAGGCTGCAGGAAGCGGCGGATCCGGCGGCGGCGGCGAGGGCCCGGGTGGGTGGCCGAACTTCTCCCGCCATGGAGGGAGCAGCGGCCCGGGAGGCCCGGGGGACCGAGACCCCGCGCGCGTCTGCGCCCCCGCCCGCGCCCTCGGAGCCCCCGGCCGCGCCCCGCGCCCGCCCGCGCCTCGTCTTCCGCACGCAGCTGGCGCACGGGAGCCCCACGGGCAAGATCGAGGGCTTCACCAACGTCCGCGAGCTGTACGCCAAGATCGCCGAAGCCTTCGGGATCGCGCCCACCGAGGTAAGGAGCCCGGACACCGGCGCCCAAGACCACCCGCCTGATGGGGTGAGGGGTAGGGAGCTTGGACCCTGGACGGGAGACCCCAGATCCCCGGATCCCAGACGTCGGGGTGGCCGCCTAATCGCCGGATCTCAGAGACCCAGCCCTCAGATCCCGGGGTGCCACACTCCCAGGGGCCCCCTTTGCACGCTCTGCGCAAAAGATGGGCAGGTCTTAGGACTAGCGGACCCCTAGATATTCCAGAAAATCCTCTGCGCAGACCTAGCTTGGAGCGGACCCCAGCCCTCGGGGAAGCGCCTCTGTGCTTCCTGGGCGTAGCTGGGGTCTGGGGTTCCAGATGGCCCCCTTAGGGATGGGAAGTTTGAGGCCGCCGTGGGGTTGGGGGGTTCCTGGGCGTTTTTCCAATCCGGGTTCGTTTGGTTTGCAGCCCCCAGGGGGCGCCAGCAGATTAAACCTGGAGGTCTGGGGGCTGGAGGTCCCGGGGTATGGAGAGGGGTCTCCACCTGCTGGAAGTCTCCTTCTCCCTCCTCTCTCTGTTCTGGGGGTCCCACGCCCTGCCCTTTCCCATGGGCTGGGATCCTGGTCGCTGGGGGCAGGGGCCTGCGCAGACAGGGTGGCTGCGTGGGGGGATGCATGCCCTGGCTAACTCTAGGCTCCTTCTCCCCCGGGAAGATTTTATTCTGCACCCTCAACAGCCACAAAGTGGACATGCAGAAGCTCCTGGGGGGTCAGATAGGCCTGGAGGACTTCATCTTTGCCCACGTGCGAGGCGAGACCAAGGAGGTGGAGGTCACTAAGACAGAGGATGCTCTGGGGCTGACCATCACGGACAACGGGGCTGGCTACGCCTTCATCAAGGTGCCCGGGAGGGGGTGGGCGGGTGGCTTCCTGGGGTCCAGCAACTGCCCCCCCCACTCTGGGTCGACGTGGGTTCTGCGGATTGGAGGCGGGTGGCTGGGGTTGCCCTGCCAGCGACGCTGGATCCCTGCAGAGAATCAAGGAAGGCAGTATCATCAACCGGATCGAGGCAGTGTGCGTGGGTGACAGCATCGAAGCCATCAACGACCACTCCATTGTGGGCTGCCGCCACTACGAGGTGGCCAAGATGCTCCGGGAGCTGCCCAAGTCCCAGCCCTTCACCCTGTGCCTGGTGCAGCCCAAGAGGGCCTTCGGTGAGGCGGGTGGGCTGGCGGGAGCTCTTCCCGAAGTGCGTTCTACGGATGCCTGGGGTGGAGGAGGGTCGGGGATGGGACGGGCTGGAAGGTTCTAGGTGCACCCGCTGCGTGCCAAGGAGCTCCTGGCAGGGTATCAGAAACTCGTAGGTAGTTTCTATTAATAGATTGTTATGGAGTCAGCCTGTGGGGGAGGGGTGGGGGAGAGACTGGGTAAAGTGGAGTTGGAGGAGGACGCGTCCAGAACCACTTTGGAGCCAGGCTGGGAGACTTGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGACGGAGTCTCACTCTGTTGCCTGGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAATCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCATTGCGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATCTTGACCAGTCTGGTCTCGAACTTCTGACCTCAAGTGCTCCACCCGCCTCAGTCTCCCAAAATGCTAGGATTATAGGCGTGAGCCACCGCGCGCAGCCTGGGAACTTTTAAAGCAGTGCTTTGAGGTCATGGTGGATTGTAGAGAATGAGAATATGAGAAAAAAGTTTTCTTTCTTTTCTTTTTTTTTTCCTTTCTTTTTTCTTTTCTTTTCTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCCAGACTGCAGTGCAGTGGCTAGATTTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTAGTAGAGATGAGGTTTTACCGTGTTAGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCGCGCCTGGCCGTGCCAGCTAATTTTTAATTTTTTTCTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCGAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCCTGCCCATTTTTTTTCATAACTAGACTTTCTCAATGAAGAAAACAGTGTATTGATTTACACACTAGCACATTCTCCTCATGTAGCCATGGGTTGGCCCTTTGGATAGCGTTGTTCTATAGAACAGAGACAGAGATTCTAGAAGTGCCCCAGCACACATGGAGAGACGTCCCAGGGAGAGTGAGCTGTATGGGGTTCTAGAATCTGCCCTGCCGTGGCTGTGAACTCCAAAAGCCATGCCTAAAAATAGAGTTTAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGTGATCCATCGTATCAAAAAAAAAAAAAAAAAAACCTGGCTGGGTGCAGTGGCTCAAGCCTGTAATCCCAGTACTTTGGAAGGCCAAGGCGGGTGCATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGCTGCAGTAAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGTGACAGAGCAAGACAACATCTCAAAAAAAAAAAAAAAAATCAAGCTTAGTCTGAGACTAAACCCAGCTCTAGAGCCCAGGCCAGCTCTCAGAC
Task1_train_26308
A variant found in Chromosome 19 affects GIPC3 (GIPC PDZ domain containing family member 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; not provided
TAGAGACGGGGTTTCACCATCTTGACCAGTCTGGTCTCGAACTTCTGACCTCAAGTGCTCCACCCGCCTCAGTCTCCCAAAATGCTAGGATTATAGGCGTGAGCCACCGCGCGCAGCCTGGGAACTTTTAAAGCAGTGCTTTGAGGTCATGGTGGATTGTAGAGAATGAGAATATGAGAAAAAAGTTTTCTTTCTTTTCTTTTTTTTTTCCTTTCTTTTTTCTTTTCTTTTCTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCCAGACTGCAGTGCAGTGGCTAGATTTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTAGTAGAGATGAGGTTTTACCGTGTTAGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCGCGCCTGGCCGTGCCAGCTAATTTTTAATTTTTTTCTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCGAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCCTGCCCATTTTTTTTCATAACTAGACTTTCTCAATGAAGAAAACAGTGTATTGATTTACACACTAGCACATTCTCCTCATGTAGCCATGGGTTGGCCCTTTGGATAGCGTTGTTCTATAGAACAGAGACAGAGATTCTAGAAGTGCCCCAGCACACATGGAGAGACGTCCCAGGGAGAGTGAGCTGTATGGGGTTCTAGAATCTGCCCTGCCGTGGCTGTGAACTCCAAAAGCCATGCCTAAAAATAGAGTTTAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGTGATCCATCGTATCAAAAAAAAAAAAAAAAAAACCTGGCTGGGTGCAGTGGCTCAAGCCTGTAATCCCAGTACTTTGGAAGGCCAAGGCGGGTGCATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGCTGCAGTAAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGTGACAGAGCAAGACAACATCTCAAAAAAAAAAAAAAAAATCAAGCTTAGTCTGAGACTAAACCCAGCTCTAGAGCCCAGGCCAGCTCTCAGACCAAGCCCTGCTCTTAAGCCCAGGCCAGCTCTGAGACTAAGTGTGTTTCTAGCACCTCAGTCCTGACACTAAGCCGGGTTCTGGAACCCAGACAAGAACATATCTAGATTGAGGATCCTACCACAAGGAGGGTCCCAAGCAGTCCCTTCTAGAGAAAGTCGCTAGAAGAGGGAGAGTGAGGGCATGGAACTGGGATGTTAGTTCTAAACCTGCTCCATTACAACACCTCATTCTGGACTTGTGATTTAGTTTGCTGGGGATGCGAAGTGTGGAATCTCGAATAGGTCTCTGGAGACTTGCCGTACAGATGTAAGGAGGACTTTGAAGGGGAGGAAGATTCTAGAAAGGCTCGGCTGTTGGCCTCCCAGGGTTTACAAAGATGTGGCTCCACCCAGAACCCATGGCCATCCCTCACTCTGTTCCCTCCAGATATGATTGGCCAGAGAAGTCGGTCCAGCAAATGTCCAGTAGAGGCGAAAGTGACCAGCGGGAGGGAGACCCTGCGGCTTCGTTCTGGGGGGGCTGCCACAGTGGAGGAAGCGGTGAGTGAAGGGGAGGGGCTCTCCCCAGGCTTCTGCACCTTCAGCTCCTCCACTGAGTCAGTGCGGTCTTGGGTAAGAACTTCTCCTCGGAGCCTCAGTTTCTCTGCCTGCAAAATGGGTCCTCATTGAAAAGTGGGGCAATGATGTTGGTACCAGCACTACTGACTCGTGTGAGGGTCCAGTCTACTCTTCCCTTAGGGGTGGGGGTCGGGAGGGGGCTGGGCTGGAGGGCTCCAAAGCTTTTCACCCCTGACTTCCCTCCCGTGTGCCCCCAGCCCAGTGAGTTTGAGGAGGAGGCATCTCGGAAGGTTGATGACCTGCTGGAAAGCTACATGGGCATTCGGGACCCCGAGCTGGGTAAGGGGCCAGGGTAAGCCAGGGGGCCCTGGGGGGAGGGAAGCCTACGGGAGGAGGCAGGGGTCCCAGCGGGAAGTTGGGCGCGGGGAGTGCCCTCACTGACATCCCCTCTGGCACGGCCCGCAGCGTCCACCATGGTGGAGACGTCCAAGAAGACAGCGAGCGCCCAGGAGTTTGCACGCTGTTTAGACTCCGTCTTGGGCGAGTTCGCCTTCCCCGACGAGTTTGTGGTGGAAGTGTGGGCCGCCATCGGCGAGGCCAGAGAGGCCTGTGGCTAGTTTGCCCTGGGGGGGCCCAGCACAGCCCCAGCCCGGAGCCCAGCCCCCTGCCCCGGCCCTGCTCCAGAACCCAGCCCAGATCGGAGGACAAGTTCCTCTCTAGAACCCAATCCAATTTGGAGCCCCAGCCCAACTCCAGAACCCAACCCTTCTCTAGAATCCAGCCCAGATCTGAGGCCAAGCTATGTGCTAGAGCCCAGGCCAGCTCTGAGACCAAGCCCAGCATTGAGAATAAGCTCTGTTCTAAAACTCAGGCCAGCCCTGAGACCAAGCCCAGCTCTAGAACTCAGATGAGCTTTGAGACCATGCCCAGCACTGAGACCAAGCCCTGTTCTAGAACTCAGGCCTGCTCTGAGGCCAAGCCCAGCTCTAGAACCCAGATGAGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAAAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCCGAGACCAAGCCCAGCTCTAGAACCCAGATGAGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGAGCTCTGAGACAGAGCCCAGTATTGAGACCAAGCCCTGTTCTAGAGTCCAGGCCAGCTCCGAGACCAAGCCCAGCTCTAGAACCCAGATAAGCTCTGAAACCAAGCCCAGCATAGAGACCAAGCCGTGTTCTAGAATTCAGGCCACATCTGAAGCCAAGCCCAGCTCTAGAACTCAGGTCAGCCCTGAGACCAAGCCCAGCTCTAGAACCCAGATAAGCTCTGAAACCAATCCCAGCATTGAGACCAAGCCCTGTTCTAGAACTCAGGCCACCTCTGAGGCCAAACCCAGCTCTAGAACCCAGATAAGATCTGAGACCAAGCCCTGCTCTGAAGCCCAGGCCAGCTCTGAGACGAAGCACATCTCTAGAATCCAGCTGAGCCCTGACAACAAGCCAAACTCTGGAACCCAGACACATTTTAAGACCCAGACCAGCTTGGAGACCAATCCCAGTTCCAGAATCCAGGCTAGCTCGGAGACCAAGCCCTGCTGGAAAACTCAAGCTGACTCTGGAACTCTGGACAGCTCCACGATGCAGCCACACCTGGACACTCGGTCTAGCTCCGGAACCCCAGTTAATTTTGGAACCCATGTGAGATTCATGAAGCAGCCCAGCTCTGGAACCCC
TAGAGACGGGGTTTCACCATCTTGACCAGTCTGGTCTCGAACTTCTGACCTCAAGTGCTCCACCCGCCTCAGTCTCCCAAAATGCTAGGATTATAGGCGTGAGCCACCGCGCGCAGCCTGGGAACTTTTAAAGCAGTGCTTTGAGGTCATGGTGGATTGTAGAGAATGAGAATATGAGAAAAAAGTTTTCTTTCTTTTCTTTTTTTTTTCCTTTCTTTTTTCTTTTCTTTTCTTTTTTTTTTTTTGAGACGGAGTCTAGCTCTGTCGCCCAGACTGCAGTGCAGTGGCTAGATTTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTAGTAGAGATGAGGTTTTACCGTGTTAGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCGCGCCTGGCCGTGCCAGCTAATTTTTAATTTTTTTCTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCGAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCCTGCCCATTTTTTTTCATAACTAGACTTTCTCAATGAAGAAAACAGTGTATTGATTTACACACTAGCACATTCTCCTCATGTAGCCATGGGTTGGCCCTTTGGATAGCGTTGTTCTATAGAACAGAGACAGAGATTCTAGAAGTGCCCCAGCACACATGGAGAGACGTCCCAGGGAGAGTGAGCTGTATGGGGTTCTAGAATCTGCCCTGCCGTGGCTGTGAACTCCAAAAGCCATGCCTAAAAATAGAGTTTAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGTGATCCATCGTATCAAAAAAAAAAAAAAAAAAACCTGGCTGGGTGCAGTGGCTCAAGCCTGTAATCCCAGTACTTTGGAAGGCCAAGGCGGGTGCATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGCTGCAGTAAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGTGACAGAGCAAGACAACATCTCAAAAAAAAAAAAAAAAATCAAGCTTAGTCTGAGACTAAACCCAGCTCTAGAGCCCAGGCCAGCTCTCAGACCAAGCCCTGCTCTTAAGCCCAGGCCAGCTCTGAGACTAAGTGTGTTTCTAGCACCTCAGTCCTGACACTAAGCCGGGTTCTGGAACCCAGACAAGAACATATCTAGATTGAGGATCCTACCACAAGGAGGGTCCCAAGCAGTCCCTTCTAGAGAAAGTCGCTAGAAGAGGGAGAGTGAGGGCATGGAACTGGGATGTTAGTTCTAAACCTGCTCCATTACAACACCTCATTCTGGACTTGTGATTTAGTTTGCTGGGGATGCGAAGTGTGGAATCTCGAATAGGTCTCTGGAGACTTGCCGTACAGATGTAAGGAGGACTTTGAAGGGGAGGAAGATTCTAGAAAGGCTCGGCTGTTGGCCTCCCAGGGTTTACAAAGATGTGGCTCCACCCAGAACCCATGGCCATCCCTCACTCTGTTCCCTCCAGATATGATTGGCCAGAGAAGTCGGTCCAGCAAATGTCCAGTAGAGGCGAAAGTGACCAGCGGGAGGGAGATCCTGCGGCTTCGTTCTGGGGGGGCTGCCACAGTGGAGGAAGCGGTGAGTGAAGGGGAGGGGCTCTCCCCAGGCTTCTGCACCTTCAGCTCCTCCACTGAGTCAGTGCGGTCTTGGGTAAGAACTTCTCCTCGGAGCCTCAGTTTCTCTGCCTGCAAAATGGGTCCTCATTGAAAAGTGGGGCAATGATGTTGGTACCAGCACTACTGACTCGTGTGAGGGTCCAGTCTACTCTTCCCTTAGGGGTGGGGGTCGGGAGGGGGCTGGGCTGGAGGGCTCCAAAGCTTTTCACCCCTGACTTCCCTCCCGTGTGCCCCCAGCCCAGTGAGTTTGAGGAGGAGGCATCTCGGAAGGTTGATGACCTGCTGGAAAGCTACATGGGCATTCGGGACCCCGAGCTGGGTAAGGGGCCAGGGTAAGCCAGGGGGCCCTGGGGGGAGGGAAGCCTACGGGAGGAGGCAGGGGTCCCAGCGGGAAGTTGGGCGCGGGGAGTGCCCTCACTGACATCCCCTCTGGCACGGCCCGCAGCGTCCACCATGGTGGAGACGTCCAAGAAGACAGCGAGCGCCCAGGAGTTTGCACGCTGTTTAGACTCCGTCTTGGGCGAGTTCGCCTTCCCCGACGAGTTTGTGGTGGAAGTGTGGGCCGCCATCGGCGAGGCCAGAGAGGCCTGTGGCTAGTTTGCCCTGGGGGGGCCCAGCACAGCCCCAGCCCGGAGCCCAGCCCCCTGCCCCGGCCCTGCTCCAGAACCCAGCCCAGATCGGAGGACAAGTTCCTCTCTAGAACCCAATCCAATTTGGAGCCCCAGCCCAACTCCAGAACCCAACCCTTCTCTAGAATCCAGCCCAGATCTGAGGCCAAGCTATGTGCTAGAGCCCAGGCCAGCTCTGAGACCAAGCCCAGCATTGAGAATAAGCTCTGTTCTAAAACTCAGGCCAGCCCTGAGACCAAGCCCAGCTCTAGAACTCAGATGAGCTTTGAGACCATGCCCAGCACTGAGACCAAGCCCTGTTCTAGAACTCAGGCCTGCTCTGAGGCCAAGCCCAGCTCTAGAACCCAGATGAGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAAAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCCGAGACCAAGCCCAGCTCTAGAACCCAGATGAGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGAGCTCTGAGACAGAGCCCAGTATTGAGACCAAGCCCTGTTCTAGAGTCCAGGCCAGCTCCGAGACCAAGCCCAGCTCTAGAACCCAGATAAGCTCTGAAACCAAGCCCAGCATAGAGACCAAGCCGTGTTCTAGAATTCAGGCCACATCTGAAGCCAAGCCCAGCTCTAGAACTCAGGTCAGCCCTGAGACCAAGCCCAGCTCTAGAACCCAGATAAGCTCTGAAACCAATCCCAGCATTGAGACCAAGCCCTGTTCTAGAACTCAGGCCACCTCTGAGGCCAAACCCAGCTCTAGAACCCAGATAAGATCTGAGACCAAGCCCTGCTCTGAAGCCCAGGCCAGCTCTGAGACGAAGCACATCTCTAGAATCCAGCTGAGCCCTGACAACAAGCCAAACTCTGGAACCCAGACACATTTTAAGACCCAGACCAGCTTGGAGACCAATCCCAGTTCCAGAATCCAGGCTAGCTCGGAGACCAAGCCCTGCTGGAAAACTCAAGCTGACTCTGGAACTCTGGACAGCTCCACGATGCAGCCACACCTGGACACTCGGTCTAGCTCCGGAACCCCAGTTAATTTTGGAACCCATGTGAGATTCATGAAGCAGCCCAGCTCTGGAACCCC
Task1_train_26309
Gene GIPC3 (GIPC PDZ domain containing family member 3) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Autosomal recessive nonsyndromic hearing loss 15
CCACACCCGGCTAATTTTTTGTATTTTAGTAGAGATGAGGTTTTACCGTGTTAGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCGCGCCTGGCCGTGCCAGCTAATTTTTAATTTTTTTCTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCGAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCCTGCCCATTTTTTTTCATAACTAGACTTTCTCAATGAAGAAAACAGTGTATTGATTTACACACTAGCACATTCTCCTCATGTAGCCATGGGTTGGCCCTTTGGATAGCGTTGTTCTATAGAACAGAGACAGAGATTCTAGAAGTGCCCCAGCACACATGGAGAGACGTCCCAGGGAGAGTGAGCTGTATGGGGTTCTAGAATCTGCCCTGCCGTGGCTGTGAACTCCAAAAGCCATGCCTAAAAATAGAGTTTAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGTGATCCATCGTATCAAAAAAAAAAAAAAAAAAACCTGGCTGGGTGCAGTGGCTCAAGCCTGTAATCCCAGTACTTTGGAAGGCCAAGGCGGGTGCATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGCTGCAGTAAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGTGACAGAGCAAGACAACATCTCAAAAAAAAAAAAAAAAATCAAGCTTAGTCTGAGACTAAACCCAGCTCTAGAGCCCAGGCCAGCTCTCAGACCAAGCCCTGCTCTTAAGCCCAGGCCAGCTCTGAGACTAAGTGTGTTTCTAGCACCTCAGTCCTGACACTAAGCCGGGTTCTGGAACCCAGACAAGAACATATCTAGATTGAGGATCCTACCACAAGGAGGGTCCCAAGCAGTCCCTTCTAGAGAAAGTCGCTAGAAGAGGGAGAGTGAGGGCATGGAACTGGGATGTTAGTTCTAAACCTGCTCCATTACAACACCTCATTCTGGACTTGTGATTTAGTTTGCTGGGGATGCGAAGTGTGGAATCTCGAATAGGTCTCTGGAGACTTGCCGTACAGATGTAAGGAGGACTTTGAAGGGGAGGAAGATTCTAGAAAGGCTCGGCTGTTGGCCTCCCAGGGTTTACAAAGATGTGGCTCCACCCAGAACCCATGGCCATCCCTCACTCTGTTCCCTCCAGATATGATTGGCCAGAGAAGTCGGTCCAGCAAATGTCCAGTAGAGGCGAAAGTGACCAGCGGGAGGGAGACCCTGCGGCTTCGTTCTGGGGGGGCTGCCACAGTGGAGGAAGCGGTGAGTGAAGGGGAGGGGCTCTCCCCAGGCTTCTGCACCTTCAGCTCCTCCACTGAGTCAGTGCGGTCTTGGGTAAGAACTTCTCCTCGGAGCCTCAGTTTCTCTGCCTGCAAAATGGGTCCTCATTGAAAAGTGGGGCAATGATGTTGGTACCAGCACTACTGACTCGTGTGAGGGTCCAGTCTACTCTTCCCTTAGGGGTGGGGGTCGGGAGGGGGCTGGGCTGGAGGGCTCCAAAGCTTTTCACCCCTGACTTCCCTCCCGTGTGCCCCCAGCCCAGTGAGTTTGAGGAGGAGGCATCTCGGAAGGTTGATGACCTGCTGGAAAGCTACATGGGCATTCGGGACCCCGAGCTGGGTAAGGGGCCAGGGTAAGCCAGGGGGCCCTGGGGGGAGGGAAGCCTACGGGAGGAGGCAGGGGTCCCAGCGGGAAGTTGGGCGCGGGGAGTGCCCTCACTGACATCCCCTCTGGCACGGCCCGCAGCGTCCACCATGGTGGAGACGTCCAAGAAGACAGCGAGCGCCCAGGAGTTTGCACGCTGTTTAGACTCCGTCTTGGGCGAGTTCGCCTTCCCCGACGAGTTTGTGGTGGAAGTGTGGGCCGCCATCGGCGAGGCCAGAGAGGCCTGTGGCTAGTTTGCCCTGGGGGGGCCCAGCACAGCCCCAGCCCGGAGCCCAGCCCCCTGCCCCGGCCCTGCTCCAGAACCCAGCCCAGATCGGAGGACAAGTTCCTCTCTAGAACCCAATCCAATTTGGAGCCCCAGCCCAACTCCAGAACCCAACCCTTCTCTAGAATCCAGCCCAGATCTGAGGCCAAGCTATGTGCTAGAGCCCAGGCCAGCTCTGAGACCAAGCCCAGCATTGAGAATAAGCTCTGTTCTAAAACTCAGGCCAGCCCTGAGACCAAGCCCAGCTCTAGAACTCAGATGAGCTTTGAGACCATGCCCAGCACTGAGACCAAGCCCTGTTCTAGAACTCAGGCCTGCTCTGAGGCCAAGCCCAGCTCTAGAACCCAGATGAGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAAAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCCGAGACCAAGCCCAGCTCTAGAACCCAGATGAGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGAGCTCTGAGACAGAGCCCAGTATTGAGACCAAGCCCTGTTCTAGAGTCCAGGCCAGCTCCGAGACCAAGCCCAGCTCTAGAACCCAGATAAGCTCTGAAACCAAGCCCAGCATAGAGACCAAGCCGTGTTCTAGAATTCAGGCCACATCTGAAGCCAAGCCCAGCTCTAGAACTCAGGTCAGCCCTGAGACCAAGCCCAGCTCTAGAACCCAGATAAGCTCTGAAACCAATCCCAGCATTGAGACCAAGCCCTGTTCTAGAACTCAGGCCACCTCTGAGGCCAAACCCAGCTCTAGAACCCAGATAAGATCTGAGACCAAGCCCTGCTCTGAAGCCCAGGCCAGCTCTGAGACGAAGCACATCTCTAGAATCCAGCTGAGCCCTGACAACAAGCCAAACTCTGGAACCCAGACACATTTTAAGACCCAGACCAGCTTGGAGACCAATCCCAGTTCCAGAATCCAGGCTAGCTCGGAGACCAAGCCCTGCTGGAAAACTCAAGCTGACTCTGGAACTCTGGACAGCTCCACGATGCAGCCACACCTGGACACTCGGTCTAGCTCCGGAACCCCAGTTAATTTTGGAACCCATGTGAGATTCATGAAGCAGCCCAGCTCTGGAACCCCAGTCAGCTCAGGATTCAGAGACAGCTCCCAAATCAAATCCTATTCAAGAACTCAGACCAGCTCAGAAACCCAGGTCCACACGGCTGCCCAGTCCAGATCCCAACCCCAGTTGCATCCAAGTGCCCATCCCCATCCTGCAGCCCAGTCCAGCTCCAGTGATGATTCCAGCTCTGAGACTGAGCCCAGCTCTAGAACCTCGCCTAGTGCTACAACCAGGCCCAACTCCAGGATTCAGACCAGCTCTGGAACCCCATCCATCTTGGAAGCAAGACCCAGCTCCAGCACACAGCTTGGTGCCAAGCCCCACTCTCCTTGCACAATGCAGCTCAGCTCTAGAATGCAGTTTACTTCCAGGACCCAGACCAATTTCAAGGCCTGGC
CCACACCCGGCTAATTTTTTGTATTTTAGTAGAGATGAGGTTTTACCGTGTTAGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCGCGCCTGGCCGTGCCAGCTAATTTTTAATTTTTTTCTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCGAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCCTGCCCATTTTTTTTCATAACTAGACTTTCTCAATGAAGAAAACAGTGTATTGATTTACACACTAGCACATTCTCCTCATGTAGCCATGGGTTGGCCCTTTGGATAGCGTTGTTCTATAGAACAGAGACAGAGATTCTAGAAGTGCCCCAGCACACATGGAGAGACGTCCCAGGGAGAGTGAGCTGTATGGGGTTCTAGAATCTGCCCTGCCGTGGCTGTGAACTCCAAAAGCCATGCCTAAAAATAGAGTTTAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGTGATCCATCGTATCAAAAAAAAAAAAAAAAAAACCTGGCTGGGTGCAGTGGCTCAAGCCTGTAATCCCAGTACTTTGGAAGGCCAAGGCGGGTGCATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGCTGCAGTAAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGTGACAGAGCAAGACAACATCTCAAAAAAAAAAAAAAAAATCAAGCTTAGTCTGAGACTAAACCCAGCTCTAGAGCCCAGGCCAGCTCTCAGACCAAGCCCTGCTCTTAAGCCCAGGCCAGCTCTGAGACTAAGTGTGTTTCTAGCACCTCAGTCCTGACACTAAGCCGGGTTCTGGAACCCAGACAAGAACATATCTAGATTGAGGATCCTACCACAAGGAGGGTCCCAAGCAGTCCCTTCTAGAGAAAGTCGCTAGAAGAGGGAGAGTGAGGGCATGGAACTGGGATGTTAGTTCTAAACCTGCTCCATTACAACACCTCATTCTGGACTTGTGATTTAGTTTGCTGGGGATGCGAAGTGTGGAATCTCGAATAGGTCTCTGGAGACTTGCCGTACAGATGTAAGGAGGACTTTGAAGGGGAGGAAGATTCTAGAAAGGCTCGGCTGTTGGCCTCCCAGGGTTTACAAAGATGTGGCTCCACCCAGAACCCATGGCCATCCCTCACTCTGTTCCCTCCAGATATGATTGGCCAGAGAAGTCGGTCCAGCAAATGTCCAGTAGAGGCGAAAGTGACCAGCGGGAGGGAGACCCTGCGGCTTCGTTCTGGGGGGGCTGCCACAGTGGAGGAAGCGGTGAGTGAAGGGGAGGGGCTCTCCCCAGGCTTCTGCACCTTCAGCTCCTCCACTGAGTCAGTGCGGTCTTGGGTAAGAACTTCTCCTCGGAGCCTCAGTTTCTCTGCCTGCAAAATGGGTCCTCATTGAAAAGTGGGGCAATGATGTTGGTACCAGCACTACTGACTCGTGTGAGGGTCCAGTCTACTCTTCCCTTAGGGGTGGGGGTCGGGAGGGGGCTGGGCTGGAGGGCTCCAAAGCTTTTCACCCCTGACTTCCCTCCCGTGTGCCCCCAGCCCAGTGAGTTTGAGGAGGAGGCATCTCGGAAGGTTGATGACCTGCTGGAAAGCTACATGGACATTCGGGACCCCGAGCTGGGTAAGGGGCCAGGGTAAGCCAGGGGGCCCTGGGGGGAGGGAAGCCTACGGGAGGAGGCAGGGGTCCCAGCGGGAAGTTGGGCGCGGGGAGTGCCCTCACTGACATCCCCTCTGGCACGGCCCGCAGCGTCCACCATGGTGGAGACGTCCAAGAAGACAGCGAGCGCCCAGGAGTTTGCACGCTGTTTAGACTCCGTCTTGGGCGAGTTCGCCTTCCCCGACGAGTTTGTGGTGGAAGTGTGGGCCGCCATCGGCGAGGCCAGAGAGGCCTGTGGCTAGTTTGCCCTGGGGGGGCCCAGCACAGCCCCAGCCCGGAGCCCAGCCCCCTGCCCCGGCCCTGCTCCAGAACCCAGCCCAGATCGGAGGACAAGTTCCTCTCTAGAACCCAATCCAATTTGGAGCCCCAGCCCAACTCCAGAACCCAACCCTTCTCTAGAATCCAGCCCAGATCTGAGGCCAAGCTATGTGCTAGAGCCCAGGCCAGCTCTGAGACCAAGCCCAGCATTGAGAATAAGCTCTGTTCTAAAACTCAGGCCAGCCCTGAGACCAAGCCCAGCTCTAGAACTCAGATGAGCTTTGAGACCATGCCCAGCACTGAGACCAAGCCCTGTTCTAGAACTCAGGCCTGCTCTGAGGCCAAGCCCAGCTCTAGAACCCAGATGAGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAAAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCCGAGACCAAGCCCAGCTCTAGAACCCAGATGAGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGAGCTCTGAGACAGAGCCCAGTATTGAGACCAAGCCCTGTTCTAGAGTCCAGGCCAGCTCCGAGACCAAGCCCAGCTCTAGAACCCAGATAAGCTCTGAAACCAAGCCCAGCATAGAGACCAAGCCGTGTTCTAGAATTCAGGCCACATCTGAAGCCAAGCCCAGCTCTAGAACTCAGGTCAGCCCTGAGACCAAGCCCAGCTCTAGAACCCAGATAAGCTCTGAAACCAATCCCAGCATTGAGACCAAGCCCTGTTCTAGAACTCAGGCCACCTCTGAGGCCAAACCCAGCTCTAGAACCCAGATAAGATCTGAGACCAAGCCCTGCTCTGAAGCCCAGGCCAGCTCTGAGACGAAGCACATCTCTAGAATCCAGCTGAGCCCTGACAACAAGCCAAACTCTGGAACCCAGACACATTTTAAGACCCAGACCAGCTTGGAGACCAATCCCAGTTCCAGAATCCAGGCTAGCTCGGAGACCAAGCCCTGCTGGAAAACTCAAGCTGACTCTGGAACTCTGGACAGCTCCACGATGCAGCCACACCTGGACACTCGGTCTAGCTCCGGAACCCCAGTTAATTTTGGAACCCATGTGAGATTCATGAAGCAGCCCAGCTCTGGAACCCCAGTCAGCTCAGGATTCAGAGACAGCTCCCAAATCAAATCCTATTCAAGAACTCAGACCAGCTCAGAAACCCAGGTCCACACGGCTGCCCAGTCCAGATCCCAACCCCAGTTGCATCCAAGTGCCCATCCCCATCCTGCAGCCCAGTCCAGCTCCAGTGATGATTCCAGCTCTGAGACTGAGCCCAGCTCTAGAACCTCGCCTAGTGCTACAACCAGGCCCAACTCCAGGATTCAGACCAGCTCTGGAACCCCATCCATCTTGGAAGCAAGACCCAGCTCCAGCACACAGCTTGGTGCCAAGCCCCACTCTCCTTGCACAATGCAGCTCAGCTCTAGAATGCAGTTTACTTCCAGGACCCAGACCAATTTCAAGGCCTGGC
Task1_train_26310
This variant affects gene GIPC3 (GIPC PDZ domain containing family member 3) located on Chromosome 19. Evaluate its biological effect and specify any disease association.
Pathogenic; Autosomal recessive nonsyndromic hearing loss 15
TTGTATTTTAGTAGAGATGAGGTTTTACCGTGTTAGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCGCGCCTGGCCGTGCCAGCTAATTTTTAATTTTTTTCTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCGAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCCTGCCCATTTTTTTTCATAACTAGACTTTCTCAATGAAGAAAACAGTGTATTGATTTACACACTAGCACATTCTCCTCATGTAGCCATGGGTTGGCCCTTTGGATAGCGTTGTTCTATAGAACAGAGACAGAGATTCTAGAAGTGCCCCAGCACACATGGAGAGACGTCCCAGGGAGAGTGAGCTGTATGGGGTTCTAGAATCTGCCCTGCCGTGGCTGTGAACTCCAAAAGCCATGCCTAAAAATAGAGTTTAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGTGATCCATCGTATCAAAAAAAAAAAAAAAAAAACCTGGCTGGGTGCAGTGGCTCAAGCCTGTAATCCCAGTACTTTGGAAGGCCAAGGCGGGTGCATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGCTGCAGTAAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGTGACAGAGCAAGACAACATCTCAAAAAAAAAAAAAAAAATCAAGCTTAGTCTGAGACTAAACCCAGCTCTAGAGCCCAGGCCAGCTCTCAGACCAAGCCCTGCTCTTAAGCCCAGGCCAGCTCTGAGACTAAGTGTGTTTCTAGCACCTCAGTCCTGACACTAAGCCGGGTTCTGGAACCCAGACAAGAACATATCTAGATTGAGGATCCTACCACAAGGAGGGTCCCAAGCAGTCCCTTCTAGAGAAAGTCGCTAGAAGAGGGAGAGTGAGGGCATGGAACTGGGATGTTAGTTCTAAACCTGCTCCATTACAACACCTCATTCTGGACTTGTGATTTAGTTTGCTGGGGATGCGAAGTGTGGAATCTCGAATAGGTCTCTGGAGACTTGCCGTACAGATGTAAGGAGGACTTTGAAGGGGAGGAAGATTCTAGAAAGGCTCGGCTGTTGGCCTCCCAGGGTTTACAAAGATGTGGCTCCACCCAGAACCCATGGCCATCCCTCACTCTGTTCCCTCCAGATATGATTGGCCAGAGAAGTCGGTCCAGCAAATGTCCAGTAGAGGCGAAAGTGACCAGCGGGAGGGAGACCCTGCGGCTTCGTTCTGGGGGGGCTGCCACAGTGGAGGAAGCGGTGAGTGAAGGGGAGGGGCTCTCCCCAGGCTTCTGCACCTTCAGCTCCTCCACTGAGTCAGTGCGGTCTTGGGTAAGAACTTCTCCTCGGAGCCTCAGTTTCTCTGCCTGCAAAATGGGTCCTCATTGAAAAGTGGGGCAATGATGTTGGTACCAGCACTACTGACTCGTGTGAGGGTCCAGTCTACTCTTCCCTTAGGGGTGGGGGTCGGGAGGGGGCTGGGCTGGAGGGCTCCAAAGCTTTTCACCCCTGACTTCCCTCCCGTGTGCCCCCAGCCCAGTGAGTTTGAGGAGGAGGCATCTCGGAAGGTTGATGACCTGCTGGAAAGCTACATGGGCATTCGGGACCCCGAGCTGGGTAAGGGGCCAGGGTAAGCCAGGGGGCCCTGGGGGGAGGGAAGCCTACGGGAGGAGGCAGGGGTCCCAGCGGGAAGTTGGGCGCGGGGAGTGCCCTCACTGACATCCCCTCTGGCACGGCCCGCAGCGTCCACCATGGTGGAGACGTCCAAGAAGACAGCGAGCGCCCAGGAGTTTGCACGCTGTTTAGACTCCGTCTTGGGCGAGTTCGCCTTCCCCGACGAGTTTGTGGTGGAAGTGTGGGCCGCCATCGGCGAGGCCAGAGAGGCCTGTGGCTAGTTTGCCCTGGGGGGGCCCAGCACAGCCCCAGCCCGGAGCCCAGCCCCCTGCCCCGGCCCTGCTCCAGAACCCAGCCCAGATCGGAGGACAAGTTCCTCTCTAGAACCCAATCCAATTTGGAGCCCCAGCCCAACTCCAGAACCCAACCCTTCTCTAGAATCCAGCCCAGATCTGAGGCCAAGCTATGTGCTAGAGCCCAGGCCAGCTCTGAGACCAAGCCCAGCATTGAGAATAAGCTCTGTTCTAAAACTCAGGCCAGCCCTGAGACCAAGCCCAGCTCTAGAACTCAGATGAGCTTTGAGACCATGCCCAGCACTGAGACCAAGCCCTGTTCTAGAACTCAGGCCTGCTCTGAGGCCAAGCCCAGCTCTAGAACCCAGATGAGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAAAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCCGAGACCAAGCCCAGCTCTAGAACCCAGATGAGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGAGCTCTGAGACAGAGCCCAGTATTGAGACCAAGCCCTGTTCTAGAGTCCAGGCCAGCTCCGAGACCAAGCCCAGCTCTAGAACCCAGATAAGCTCTGAAACCAAGCCCAGCATAGAGACCAAGCCGTGTTCTAGAATTCAGGCCACATCTGAAGCCAAGCCCAGCTCTAGAACTCAGGTCAGCCCTGAGACCAAGCCCAGCTCTAGAACCCAGATAAGCTCTGAAACCAATCCCAGCATTGAGACCAAGCCCTGTTCTAGAACTCAGGCCACCTCTGAGGCCAAACCCAGCTCTAGAACCCAGATAAGATCTGAGACCAAGCCCTGCTCTGAAGCCCAGGCCAGCTCTGAGACGAAGCACATCTCTAGAATCCAGCTGAGCCCTGACAACAAGCCAAACTCTGGAACCCAGACACATTTTAAGACCCAGACCAGCTTGGAGACCAATCCCAGTTCCAGAATCCAGGCTAGCTCGGAGACCAAGCCCTGCTGGAAAACTCAAGCTGACTCTGGAACTCTGGACAGCTCCACGATGCAGCCACACCTGGACACTCGGTCTAGCTCCGGAACCCCAGTTAATTTTGGAACCCATGTGAGATTCATGAAGCAGCCCAGCTCTGGAACCCCAGTCAGCTCAGGATTCAGAGACAGCTCCCAAATCAAATCCTATTCAAGAACTCAGACCAGCTCAGAAACCCAGGTCCACACGGCTGCCCAGTCCAGATCCCAACCCCAGTTGCATCCAAGTGCCCATCCCCATCCTGCAGCCCAGTCCAGCTCCAGTGATGATTCCAGCTCTGAGACTGAGCCCAGCTCTAGAACCTCGCCTAGTGCTACAACCAGGCCCAACTCCAGGATTCAGACCAGCTCTGGAACCCCATCCATCTTGGAAGCAAGACCCAGCTCCAGCACACAGCTTGGTGCCAAGCCCCACTCTCCTTGCACAATGCAGCTCAGCTCTAGAATGCAGTTTACTTCCAGGACCCAGACCAATTTCAAGGCCTGGCCAAGCTCCAGAGCTCAAT
TTGTATTTTAGTAGAGATGAGGTTTTACCGTGTTAGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACCGCGCCTGGCCGTGCCAGCTAATTTTTAATTTTTTTCTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCGAAAGTGCTGGAATTACAGGCATGAGCCACTGCACCCTGCCCATTTTTTTTCATAACTAGACTTTCTCAATGAAGAAAACAGTGTATTGATTTACACACTAGCACATTCTCCTCATGTAGCCATGGGTTGGCCCTTTGGATAGCGTTGTTCTATAGAACAGAGACAGAGATTCTAGAAGTGCCCCAGCACACATGGAGAGACGTCCCAGGGAGAGTGAGCTGTATGGGGTTCTAGAATCTGCCCTGCCGTGGCTGTGAACTCCAAAAGCCATGCCTAAAAATAGAGTTTAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGTGATCCATCGTATCAAAAAAAAAAAAAAAAAAACCTGGCTGGGTGCAGTGGCTCAAGCCTGTAATCCCAGTACTTTGGAAGGCCAAGGCGGGTGCATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGCTGCAGTAAGCCGAGATCGTGCCATTGCACTCTAGCCTGGGTGACAGAGCAAGACAACATCTCAAAAAAAAAAAAAAAAATCAAGCTTAGTCTGAGACTAAACCCAGCTCTAGAGCCCAGGCCAGCTCTCAGACCAAGCCCTGCTCTTAAGCCCAGGCCAGCTCTGAGACTAAGTGTGTTTCTAGCACCTCAGTCCTGACACTAAGCCGGGTTCTGGAACCCAGACAAGAACATATCTAGATTGAGGATCCTACCACAAGGAGGGTCCCAAGCAGTCCCTTCTAGAGAAAGTCGCTAGAAGAGGGAGAGTGAGGGCATGGAACTGGGATGTTAGTTCTAAACCTGCTCCATTACAACACCTCATTCTGGACTTGTGATTTAGTTTGCTGGGGATGCGAAGTGTGGAATCTCGAATAGGTCTCTGGAGACTTGCCGTACAGATGTAAGGAGGACTTTGAAGGGGAGGAAGATTCTAGAAAGGCTCGGCTGTTGGCCTCCCAGGGTTTACAAAGATGTGGCTCCACCCAGAACCCATGGCCATCCCTCACTCTGTTCCCTCCAGATATGATTGGCCAGAGAAGTCGGTCCAGCAAATGTCCAGTAGAGGCGAAAGTGACCAGCGGGAGGGAGACCCTGCGGCTTCGTTCTGGGGGGGCTGCCACAGTGGAGGAAGCGGTGAGTGAAGGGGAGGGGCTCTCCCCAGGCTTCTGCACCTTCAGCTCCTCCACTGAGTCAGTGCGGTCTTGGGTAAGAACTTCTCCTCGGAGCCTCAGTTTCTCTGCCTGCAAAATGGGTCCTCATTGAAAAGTGGGGCAATGATGTTGGTACCAGCACTACTGACTCGTGTGAGGGTCCAGTCTACTCTTCCCTTAGGGGTGGGGGTCGGGAGGGGGCTGGGCTGGAGGGCTCCAAAGCTTTTCACCCCTGACTTCCCTCCCGTGTGCCCCCAGCCCAGTGAGTTTGAGGAGGAGGCATCTCGGAAGGTTGATGACCTGCTGGAAAGCTACATGGGCATTCGGGACCCCGAGCGGGGTAAGGGGCCAGGGTAAGCCAGGGGGCCCTGGGGGGAGGGAAGCCTACGGGAGGAGGCAGGGGTCCCAGCGGGAAGTTGGGCGCGGGGAGTGCCCTCACTGACATCCCCTCTGGCACGGCCCGCAGCGTCCACCATGGTGGAGACGTCCAAGAAGACAGCGAGCGCCCAGGAGTTTGCACGCTGTTTAGACTCCGTCTTGGGCGAGTTCGCCTTCCCCGACGAGTTTGTGGTGGAAGTGTGGGCCGCCATCGGCGAGGCCAGAGAGGCCTGTGGCTAGTTTGCCCTGGGGGGGCCCAGCACAGCCCCAGCCCGGAGCCCAGCCCCCTGCCCCGGCCCTGCTCCAGAACCCAGCCCAGATCGGAGGACAAGTTCCTCTCTAGAACCCAATCCAATTTGGAGCCCCAGCCCAACTCCAGAACCCAACCCTTCTCTAGAATCCAGCCCAGATCTGAGGCCAAGCTATGTGCTAGAGCCCAGGCCAGCTCTGAGACCAAGCCCAGCATTGAGAATAAGCTCTGTTCTAAAACTCAGGCCAGCCCTGAGACCAAGCCCAGCTCTAGAACTCAGATGAGCTTTGAGACCATGCCCAGCACTGAGACCAAGCCCTGTTCTAGAACTCAGGCCTGCTCTGAGGCCAAGCCCAGCTCTAGAACCCAGATGAGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAAAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCGAGCCCAGCTCTAGAACTCAGATGGGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGGGCTCCGAGACCAAGCCCAGCTCTAGAACCCAGATGAGCTCTGAGACCATGCCCAGCTCTAGAACTCAGATGAGCTCTGAGACAGAGCCCAGTATTGAGACCAAGCCCTGTTCTAGAGTCCAGGCCAGCTCCGAGACCAAGCCCAGCTCTAGAACCCAGATAAGCTCTGAAACCAAGCCCAGCATAGAGACCAAGCCGTGTTCTAGAATTCAGGCCACATCTGAAGCCAAGCCCAGCTCTAGAACTCAGGTCAGCCCTGAGACCAAGCCCAGCTCTAGAACCCAGATAAGCTCTGAAACCAATCCCAGCATTGAGACCAAGCCCTGTTCTAGAACTCAGGCCACCTCTGAGGCCAAACCCAGCTCTAGAACCCAGATAAGATCTGAGACCAAGCCCTGCTCTGAAGCCCAGGCCAGCTCTGAGACGAAGCACATCTCTAGAATCCAGCTGAGCCCTGACAACAAGCCAAACTCTGGAACCCAGACACATTTTAAGACCCAGACCAGCTTGGAGACCAATCCCAGTTCCAGAATCCAGGCTAGCTCGGAGACCAAGCCCTGCTGGAAAACTCAAGCTGACTCTGGAACTCTGGACAGCTCCACGATGCAGCCACACCTGGACACTCGGTCTAGCTCCGGAACCCCAGTTAATTTTGGAACCCATGTGAGATTCATGAAGCAGCCCAGCTCTGGAACCCCAGTCAGCTCAGGATTCAGAGACAGCTCCCAAATCAAATCCTATTCAAGAACTCAGACCAGCTCAGAAACCCAGGTCCACACGGCTGCCCAGTCCAGATCCCAACCCCAGTTGCATCCAAGTGCCCATCCCCATCCTGCAGCCCAGTCCAGCTCCAGTGATGATTCCAGCTCTGAGACTGAGCCCAGCTCTAGAACCTCGCCTAGTGCTACAACCAGGCCCAACTCCAGGATTCAGACCAGCTCTGGAACCCCATCCATCTTGGAAGCAAGACCCAGCTCCAGCACACAGCTTGGTGCCAAGCCCCACTCTCCTTGCACAATGCAGCTCAGCTCTAGAATGCAGTTTACTTCCAGGACCCAGACCAATTTCAAGGCCTGGCCAAGCTCCAGAGCTCAAT
Task1_train_26311
An alteration has been detected in PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase type 1 gamma) on Chromosome 19. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Lethal congenital contracture syndrome 3
GTGGGCTGTGTCCTGCTGTGAGCCCTGCCTCGCCCGATCCCTCTGGCCTCCCATGCGCCTTCCACACCTTTGTGGCCCCTCTCTGCACGGGTGGCGTGTAGACCCCTCTGAGTGCCACCGGGAAACGCTATCTCTCTCTCATTCCTGTGGATGGCCAGTGGCCTCGGCCCAGTCACGGGTGAATGGGAAACGCCCCCACCATTGCAAGCCAAGGCCCGGAACCCTGCACTCAGCCTGCGGCCCGCACTACGGCCTGGCTTCGCTCTGAGGCGCTGGCACAAGGCTCCCAGACTCTGTCTGTCACCCACGCATGCCCTCGCCAGCCCTCCCTGCCTGTTTTCACACTTGGGACGGGGATGGGGAACTGGAGCCTGTGGGGAAGGGAAGCGGGACGGGTCCGGCGGCCCCCCGCCCACCTACGTGTCATCCGATTCGATGGCCTCCCCGCGCGCGGCGCCACCCTGGATGGACTCCATGGCCGTGGAGTAGAGCGCCTTCTGGCCCACAGGCCGCTTCTCATCTGAGGTGCTCTGGGCGCCCTGCGCCTGCCGCTCGCGCTCGTGCTGGTCGATGTTGTGCACGCCCAGCAGCAGGCTGTAGTCCATGATCTTGAAACTTTCCAGGACCTGGCGGGATCGGGCAGGAACACGCCACGCCGTCAGCCGTCTCTATCCCCCACAACGGCTCCCGGACCCTATGGGGTTCCCAGCACGGATGGCCCCGTGGGCTCGGGTGTGAGAGATGGAGTCCCACGGCCAGGCAGGAGTGGGGGTTCTAGTGTTATCCTGAGGAACAGAGGGGCTGCGGTCACACAGCGGCATCAGAGCAGGCCAGAGAATGGGGGCTTCCAGCCTCACAGCAGGCTGCCCCGGGCACTGAGACAGGGACTTCCCTTCCTGGCTTTACTCCTTCCTGAGAGACAGGGAGCCGGGCCTATGCTCTGACCAGCCCAGGCCCATGGGCAAGGACGTGCCCGGCCTGACAGGTGACACCCAGGTGGGTGGATGCCCAGGGTAGCCTCAAGGCCCCTGAGTGGTCTGGGCGGTTTTCTGGGGGTATGGGTCAAGTTCTCAAAGGGGTCGGGGAGCTGGGGATGGTCAGCAGCGGGGCCTGGGTGGAGTTGGGGAGCTGGGAGGTCCCAGGCTCTGCTCCTGACAGGCTGGGGCCTCCCCTCCTTGGCTCCATGCCTCGAAGCTGCCGGGGTGGGACGGGGACGACGGAGCTAACCCAGGCAGAGGAAGAGCCGTGCATATCATTCTTTCGCTAACACGGAGCCAACGCAGGCTCCACGGGGACAGGAGCCAGACCCTCACTGGACGCACATGGGCCCTCACTGTGGCCTGCAGAGCAAGCAGTCATCCCATTTGATGGGTGAGGAAACTGAGGCACAGCAAGCTCTCATGGCTGGCTGGGAGCTCTGGGCTTGTGACCACAGCATCTGAAGGCTGGGCTCTTCTCTGGGGGGTGGGGGGACTCTACCACTGTCATCGTGTAACCTCCAGAGGAACCACTTCTCAGCAGTGCAGACACTCCCGACCCCCAAGGGCTGGGTCTGGGGACATGTTATAAGTGTTTTGTTTTCTTTGTGAGATGGGGTCTCACAATGTTGCCCCTGCTGGTCTTGAAACCCTGGGCTCAAGCCATCTGCCTGCCTCCCAAAGAGCTGGGATCCCAGGCGTGAGCCACTGTGTCCGGCCACATTTTAGGTTAAGGCCATAAAAGCTTGAGCGCTTCTGGATCCCACACTGGGGTGGGGCCTGCTGTAGGCTGCAGGGCAGGTGGGCCTCGGCCTGGCACCCTCCCTGGCCCTGCCTGCCCAGGCCGAGCCCTCACCACGCAGTCCCACCTGCCACCCTCCCTCCCCGGCCGGGGCCGAGCCCTCACCAGGCAGTCCCGCTGCAGCGTCTTGACCAGGGCGCTGAAGGTGTCGGCGTCCAGCAGGAGCCCCTCGGGCATGTCCTGCATGAAGTCCAGGTCCTTGTAGGTGGGGAAGCTCTTCTCCTTCTCCTTCTTGCTGGCGCGCCGCTTGTAGGTGGAGCCCTTGAGGTCGAACTTGAGGTGCATCTTGACCACGCGGGGCAGGATGTTGTTCATGACCACGACGCGGATGTTCTTGCCCCCCGACTGCACGCAGTACAGCCCATAGAACTTGGGCAGCAGCGTCCGCGGGTTCTGGTTGAGGTTCTGCCGGGGGAAGAGGGCAAGTCGTGGAGGGCGGCTGGGCCACAGACTCACGGGGGCGGGCAAAGCAGGCCTCTGCCTCAGGGGGCTCATGGATGCCCCTGGCCAGCCCCCCTCTCTCCCCAGAAGCCCTCGGGGACCCCGTTCCTATGCAGGCACCCAGCTGGCCTTCCCACGGCACCCTGACTCTCATGGGCCACAACTGTGAGCTCCAGGAGGGTCTGTTTCTACAGAGCCAGGCCCCAAGGCAGGCGCTTCTGTTCCAGCAGAAGCTTCCACACTCCCTGCCTGCCCACAGACATCGCCCTGGCTGGGCTCGCCTGTTGGGAGGTCTGGAGGCCGGAAACGCAATGCTGTATCCTAAAATACATACATGTATGTATATGCACACACAAACACATACACACACACGCACACACACATGTATTTTCTTGAGACAGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAACGGTGCGATCACAGCTCACTGCAGCCTCCACCTCCAGGGCTCAAACCATCCTCCCACCTCAGCCTCCGAAAGTGCCAGGACTCCAGGCGTGAGCCCAGCCTCTATGTTGGTTATGCTTTGCCTGTGTTGAACTGATCAACTCAGACTTTCACTCCAAATCTGGGTCCCCAGGCGCAGTGACGAGTCTGGGTCCTGCTGTACCCTGTAGACCCCAAGCAGGCACTGGGTGACTCAGGGGCACCCAAGTGAAGCAACAGCGCCCCCTGCCCAGAGCCTCTCAATGACGAACCCAGTGGGAAGCTGCCCAGGTGTCGGGGCTGAGACAGACCCACAGGGAGAGGAGTGAGGGGCGCGGACTCAGGCACCAGCCTGGGCAGGCTAGGTGAACTCCAGCCCCTGGGCCGAATCCGGCCACCACCTATTTTTGTAGGGCTGTGAGCTAAGAATGGTTTTTCCATTTTTAAAAAGTGGAAAGGGCCCAGTGCGATGGCTCATGCCTGTAATCCTAGCACTGTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATAAAAATTAGCTGGGAGTGGTGGCGCATGCCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGATGGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCATTCCAGCCTGGGCAACAGAGCCAGACTCCATCTCAAAAGAAAAAAAAAAAAAAAGGCCAAGCACAGTGGCTCACATCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAAGTCAGGAGACCAGCTTGACCAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTAGGTGCCTGGAATCACAACTACTCAGGAGGCTGAGGCAGCAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTAAGCCAAGATCACGCCAATGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAATGAAGAGGCCAGGCGCGGTGGCTCACGCCTATAATTCCAACACTCCAGGAGGCCGAGACAGGCAGATCACGACATCAGGAAATCGAGACCATCCTGGCTAACACGGTGAAACCATGTCTCTACTAAAAATATAAAAAAATAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGGGGAGGCTGCAGTGAGCCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAACATAAATAAATAAATAAAAAAGTGGAGAAATAGAAAATAGTCTTTGATGACACGTGAAAGTGATATGGAATTCGCATTTC
GTGGGCTGTGTCCTGCTGTGAGCCCTGCCTCGCCCGATCCCTCTGGCCTCCCATGCGCCTTCCACACCTTTGTGGCCCCTCTCTGCACGGGTGGCGTGTAGACCCCTCTGAGTGCCACCGGGAAACGCTATCTCTCTCTCATTCCTGTGGATGGCCAGTGGCCTCGGCCCAGTCACGGGTGAATGGGAAACGCCCCCACCATTGCAAGCCAAGGCCCGGAACCCTGCACTCAGCCTGCGGCCCGCACTACGGCCTGGCTTCGCTCTGAGGCGCTGGCACAAGGCTCCCAGACTCTGTCTGTCACCCACGCATGCCCTCGCCAGCCCTCCCTGCCTGTTTTCACACTTGGGACGGGGATGGGGAACTGGAGCCTGTGGGGAAGGGAAGCGGGACGGGTCCGGCGGCCCCCCGCCCACCTACGTGTCATCCGATTCGATGGCCTCCCCGCGCGCGGCGCCACCCTGGATGGACTCCATGGCCGTGGAGTAGAGCGCCTTCTGGCCCACAGGCCGCTTCTCATCTGAGGTGCTCTGGGCGCCCTGCGCCTGCCGCTCGCGCTCGTGCTGGTCGATGTTGTGCACGCCCAGCAGCAGGCTGTAGTCCATGATCTTGAAACTTTCCAGGACCTGGCGGGATCGGGCAGGAACACGCCACGCCGTCAGCCGTCTCTATCCCCCACAACGGCTCCCGGACCCTATGGGGTTCCCAGCACGGATGGCCCCGTGGGCTCGGGTGTGAGAGATGGAGTCCCACGGCCAGGCAGGAGTGGGGGTTCTAGTGTTATCCTGAGGAACAGAGGGGCTGCGGTCACACAGCGGCATCAGAGCAGGCCAGAGAATGGGGGCTTCCAGCCTCACAGCAGGCTGCCCCGGGCACTGAGACAGGGACTTCCCTTCCTGGCTTTACTCCTTCCTGAGAGACAGGGAGCCGGGCCTATGCTCTGACCAGCCCAGGCCCATGGGCAAGGACGTGCCCGGCCTGACAGGTGACACCCAGGTGGGTGGATGCCCAGGGTAGCCTCAAGGCCCCTGAGTGGTCTGGGCGGTTTTCTGGGGGTATGGGTCAAGTTCTCAAAGGGGTCGGGGAGCTGGGGATGGTCAGCAGCGGGGCCTGGGTGGAGTTGGGGAGCTGGGAGGTCCCAGGCTCTGCTCCTGACAGGCTGGGGCCTCCCCTCCTTGGCTCCATGCCTCGAAGCTGCCGGGGTGGGACGGGGACGACGGAGCTAACCCAGGCAGAGGAAGAGCCGTGCATATCATTCTTTCGCTAACACGGAGCCAACGCAGGCTCCACGGGGACAGGAGCCAGACCCTCACTGGACGCACATGGGCCCTCACTGTGGCCTGCAGAGCAAGCAGTCATCCCATTTGATGGGTGAGGAAACTGAGGCACAGCAAGCTCTCATGGCTGGCTGGGAGCTCTGGGCTTGTGACCACAGCATCTGAAGGCTGGGCTCTTCTCTGGGGGGTGGGGGGACTCTACCACTGTCATCGTGTAACCTCCAGAGGAACCACTTCTCAGCAGTGCAGACACTCCCGACCCCCAAGGGCTGGGTCTGGGGACATGTTATAAGTGTTTTGTTTTCTTTGTGAGATGGGGTCTCACAATGTTGCCCCTGCTGGTCTTGAAACCCTGGGCTCAAGCCATCTGCCTGCCTCCCAAAGAGCTGGGATCCCAGGCGTGAGCCACTGTGTCCGGCCACATTTTAGGTTAAGGCCATAAAAGCTTGAGCGCTTCTGGATCCCACACTGGGGTGGGGCCTGCTGTAGGCTGCAGGGCAGGTGGGCCTCGGCCTGGCACCCTCCCTGGCCCTGCCTGCCCAGGCCGAGCCCTCACCACGCAGTCCCACCTGCCACCCTCCCTCCCCGGCCGGGGCCGAGCCCTCACCAGGCAGTCCCGCTGCAGCGTCTTGACCAGGGCGCTGAAGGTGTCGGCGTCCAGCAGGAGCCCCTCGGGCATGTCCTGCATGAAGTCCAGGTCCTTGTAGGTGGGGAAGCTCTTCTCCTTCTCCTTCTTGCTGGCGCGCCGCTTGTAGGTGGAGCCCTTGAGGTTGAACTTGAGGTGCATCTTGACCACGCGGGGCAGGATGTTGTTCATGACCACGACGCGGATGTTCTTGCCCCCCGACTGCACGCAGTACAGCCCATAGAACTTGGGCAGCAGCGTCCGCGGGTTCTGGTTGAGGTTCTGCCGGGGGAAGAGGGCAAGTCGTGGAGGGCGGCTGGGCCACAGACTCACGGGGGCGGGCAAAGCAGGCCTCTGCCTCAGGGGGCTCATGGATGCCCCTGGCCAGCCCCCCTCTCTCCCCAGAAGCCCTCGGGGACCCCGTTCCTATGCAGGCACCCAGCTGGCCTTCCCACGGCACCCTGACTCTCATGGGCCACAACTGTGAGCTCCAGGAGGGTCTGTTTCTACAGAGCCAGGCCCCAAGGCAGGCGCTTCTGTTCCAGCAGAAGCTTCCACACTCCCTGCCTGCCCACAGACATCGCCCTGGCTGGGCTCGCCTGTTGGGAGGTCTGGAGGCCGGAAACGCAATGCTGTATCCTAAAATACATACATGTATGTATATGCACACACAAACACATACACACACACGCACACACACATGTATTTTCTTGAGACAGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAACGGTGCGATCACAGCTCACTGCAGCCTCCACCTCCAGGGCTCAAACCATCCTCCCACCTCAGCCTCCGAAAGTGCCAGGACTCCAGGCGTGAGCCCAGCCTCTATGTTGGTTATGCTTTGCCTGTGTTGAACTGATCAACTCAGACTTTCACTCCAAATCTGGGTCCCCAGGCGCAGTGACGAGTCTGGGTCCTGCTGTACCCTGTAGACCCCAAGCAGGCACTGGGTGACTCAGGGGCACCCAAGTGAAGCAACAGCGCCCCCTGCCCAGAGCCTCTCAATGACGAACCCAGTGGGAAGCTGCCCAGGTGTCGGGGCTGAGACAGACCCACAGGGAGAGGAGTGAGGGGCGCGGACTCAGGCACCAGCCTGGGCAGGCTAGGTGAACTCCAGCCCCTGGGCCGAATCCGGCCACCACCTATTTTTGTAGGGCTGTGAGCTAAGAATGGTTTTTCCATTTTTAAAAAGTGGAAAGGGCCCAGTGCGATGGCTCATGCCTGTAATCCTAGCACTGTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATAAAAATTAGCTGGGAGTGGTGGCGCATGCCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGATGGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCATTCCAGCCTGGGCAACAGAGCCAGACTCCATCTCAAAAGAAAAAAAAAAAAAAAGGCCAAGCACAGTGGCTCACATCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCATGAAGTCAGGAGACCAGCTTGACCAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTAGGTGCCTGGAATCACAACTACTCAGGAGGCTGAGGCAGCAGAATCGCTTGAACCCAGGAGGCGGAGCTTGCAGTAAGCCAAGATCACGCCAATGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAATGAAGAGGCCAGGCGCGGTGGCTCACGCCTATAATTCCAACACTCCAGGAGGCCGAGACAGGCAGATCACGACATCAGGAAATCGAGACCATCCTGGCTAACACGGTGAAACCATGTCTCTACTAAAAATATAAAAAAATAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGGGGAGGCTGCAGTGAGCCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAACATAAATAAATAAATAAAAAAGTGGAGAAATAGAAAATAGTCTTTGATGACACGTGAAAGTGATATGGAATTCGCATTTC
Task1_train_26312
This variant affects the gene RAX2 (retina and anterior neural fold homeobox 2) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Cone-rod dystrophy 11
CCAGCCGTTCCCACCCTCCTGTTGTTCCCCAAGGTTCTGAGGGTAAAAATCAAAGTTATAACAGCCACTGGCCCTGCCTGGCCTCCCCATCACCTCCCTCCTCCCCCTCCTCACTCTGCTCCAGCCGCATGGGCCTCCTCGCTATTCTTTCAATGCACGAGGCGTGGTCCTGCCCCAGGGCCTTTGCACAGCCTGTGCCTCTGCCCAGCTCCCTCCTTCCCTAGACCTTCTCCCTCCCGCCCCCGGTCTCTACCTTCACGCCAGCCTCCCCTCCTCCAGAACTCCCTATTAAAATTGCAGCCCCTGCCACACTCCACATCTGACTTTCCTGGTTTTTTTTTCTCCCTATCACTTATCACTGTCTGAAGTCTTTTGTTTTAGATTTGTTTTTTATTTGTATTGAGTCAGGGTCTGGCTCTGTTGCACAGGCTGGAGTGCAGCAGTGTGATCACAGCTCCCTGCAGCCTCGACCTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCTTCTTGGGTAGCTGGGATGACAGGTGTGCACCAGTACACCCGGCACATTTTAAAAACGTTTGTGGAGATGGGGTCTTGCTGTGTCACCCAGGCTGGTCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCGCACCTGGCCTGGTTTAGCTTTAAAAAAAAAAATCTTTCTTGTGCTTACTGCCGTGTCCCCACTGCCTGGTGTGCGGTGACATTGGGTGATGGCGGGGCGTTGGACCACAGGACTGGTGTGTGAGGTGCCGCCTAGAGATGGGGTGACCTGGTGATCTGGGAGTGATCTGGGGAGCCCAGGCTGGAGACGGGGAGGGTAGCTACTGCAGCTCCTGCCCTGGTGCCGCACTTCTGTCCCGGGAGGTGGCGCTGGCCCAGACTGTCCCATCCCATGCCTCAGGGCCCCCTCCTGCTGCACTGGGCCAGCCGTGCTTGCCAGTCCCAGCGGGTTCTCGGCCCCGCGACAGCCTCCTTGCTCAGAGCTCTTGGGCGATGCGGCTGGGTTGGACAGAGCAGATGCTGGCCATGCCTCCACTGGGGACATGCACAGGGCCTGGGGTCTGTGGGGACGTGAGGAACGGTCTGACGATGACGACACACCCAGCATCAGCCCGCCTCCACCTGGAGGCCCACCAGCACCTGGCCCGGGACCCACCCTCTCTCCAGAACCTGTCGCTGTGCCCCGGACGGTAGGACCGGTGATGGGTCTGAAAGGCAGCTCCATCCACTCCTGGCCGTGCGACTTTGGGGACCTGGCTTCCTGCCTAAGCCCCGGTTTCCCTCTCTATAGAATGGGCTGACAGCTGTGCCCGAGGTCCAGGGCACAACGGAGAGGGGAGTGCTCACATGGCGAGCACACGGTGAGAGGAGACCAGGCTCGCGGGAGCTGCTGCTATTTGTTATTTCCAGGGGACTGGGAGCCTGGAGAGTGGGCAGCTCTGCTGATGGGGATTAGGAGAAGCAGAGAGATTTACACTCATCTTACAGAGTCAGCGGTCCCGCCACCCACAGCCTCGCAGCCCTCGAACCTCGGAGGCCCCCACGCCCAATTAACAGACAGGAGACTGAGGCCCCAGGAGGGGAGGAGGTCCCCGCACCTGGCCTGAGAATACTTGGGTCACCTCCTGCCTGACACTGGGGGCCAGTCCGCTGCCAGCAGGACGGGTGGCGATGGGGTGGGAGACGGGATGGGGGCAGGGAACCCAGCAGCCTGTCTCTCTGGTCCCGCTCCCCAGTGGTGGTGGCCTGGCCTGACCACGGTTGCTCCATGACCTCGGCCTAGGCCAAGGCGTGGTGGCTGTCACCAGGGCACGTCCCCGGTTCTCGGGTTGGGCCGAGGAGGGGGCCCGGGAGGGCGGCAGGCTCAGGCTGGCGGCCAGGCCCTGTCCAGAGCCTGTGCATGTTCCTTGGCCAGCAGCCGCAGGGACGCCTCCTCCAGGGCGAAGCCATCTGCGAAGGTGGGAGCAAAGGCATGAGGCCCGAAGGACGCTTGCAGCCCCGGGCCCGGGCCCAGGAGGCGGGGGAGGCCTGGCACGGCCGGCGGTCCGGGGCCCAACCAGGGCTCCAGGGGCAGCGACATGGCCGGGGGGCGGGCGAACGGCAGCGCTGGGGCCTCGGGGAGTCTCGGAGCTGCCACGGCACCCGAGCCTGACTCCAGCCGCTCCTGGCGGCGCCACTTGGCCCGGCGGTTCTGGAACCACACCTGGAGGGTGCGAGAGGGAAGGGGGGTTGCTGTGAGCTCAGCCGCTCCCCGCCAATCCTCGGACCCCCTCTGCACACCCCAGCCCTGGGGGTTCTGACTCCCGTCTGACCCGACTCCTACCTGCTGCTTCGCTGTTCTGCCCCAAGAAGATGAGGATCTCCCAAGCGTTCCCTAAGCCCAGGCTCCCCTCCAACTCCTCACTCCCCTCCTTGGCCTCCCTTGGCCCTTAGCAAGTAACCTGAGCTGCCTAACGTGGCATTCAAGGCCTTCAAAAGCGTTGTTACCCACACCATTCTCTGCCTCCTCCTTCACCCCTGGCTCAAGGGAAACGCCTCCAACTTAACCCCTCCATGTCTTTGCACACACTGTTCAGGATGCCTAGAAAAACTCCCCTTTTCCTTCCCAGCTGGCACACTCCTACTCAAATGTCAAAACCTCAGCTCCCACACCCCCTCCTCCAGGAAGCCTTCCTAGCTTCTCTTCTGCTGTTGCTCCGGGAGGGTCAGGATCTTGCTTTGCCTCCCTCCCCAGGTTGCAAAAGATGTGTGTGTTGGGGGGTGCCCTCACCTGCACGCGCACCTCAGGTAGGTGCACCTTGGCTGCCAGCTCCTCACGGCTGTACACATCCGGGTAGTGAGAGGCCTCGAACGCCCGCTCCAGCTGGTGCAGCTGGTAGGTGGTGAAGGTGGTGCGGTTCCTCCGGTGCTTCTTCTTGGGGGCCTCCTCGCCCGGCCCCAGACCCCCACCCTCGGTTGCCGGCCCCTCGCCCGGGCTCAGGAACATGGCTCCCACCTGGTGGGACGGCAGCGGGACAGATGGTGGGGAGACGGCTGGGGGGGCTACCGGCAGGGACAGGGCAGGGGAGCCCCAGGCTTGCCTCCCGGCTCCGGGGAAATCGGTTCCCTCCACTGGGGCCGGCATGCGCTCTGCATCCCCAGGCTGTCCTCCTCGGGCTTGGGGGGGTCTCCTGCTGTGCCTCTGTCTGCTCTTCCTTCTCTCTGTGTGTGTCACCGTCCCTGTTTTCTCTTCCCCTCTCTGTGACTGTCACGGCCTGTGTGTGTGTGTGTCGGCGGGGGGGGGTCAAGGATGCCCCCCCGTCAAGGAAGGCAGGATCCCTTCTCACGCCCTAAGCCCTCCACCCTGAGGGGATCTCTGCCCCCACCACCTCCTACCCAGGCCCACCAGTGCCCACCCCGCACTCACCGCCCACGGCAGCCCCTCCGTCGATTTCCACGGGACACCTGCCCCAGCGGGCCTGGCGCTGCGTCTGCTGTGGCCTGGCCCTGCCGGAGCCGAGCCAGGTCGGGGCTGCGTGGGGGAGGATTAGCTCAAGGTGATTAATTGAGGCGGCCCCTCCCACTTGGTCCTGGGCTGTTCTGAGCCAGGAGGGAGGGCAGGGTGGATGGAGGGCTGGGGCTCTAAGTGGGTGGCTGGGGGGATAGTCTTACAGGCTCCACGGCCCCTTGCCATAAGACGGCAAGGGCCTCTCCCTCTCTGGGCCTCAGTTTCCCTGGCTGTAAAACTGCCACACTAGGACCTACCCTGGGGGGATTTCAGCTTCTCAGAGCATCGCACAGAAATTGGCATACAGGGGGCACTTAATGAATGCTCACTGTTAATATTTTTATCTGCTGGGGGCAGAAAAAGGTGTCTTAGAACTCACAGATGTCAGAGGCAGTTGGGGAAGCTGAGGTCCAGAGGTGAAGGCACTGCAGTTGGTTCCTCTGGACACAAGGGGTAGGGACCCTTTTAGCTGGGTCTGGAGGTATGAATAGACGTTCACCATTCACAGCCGGGCGCAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACC
CCAGCCGTTCCCACCCTCCTGTTGTTCCCCAAGGTTCTGAGGGTAAAAATCAAAGTTATAACAGCCACTGGCCCTGCCTGGCCTCCCCATCACCTCCCTCCTCCCCCTCCTCACTCTGCTCCAGCCGCATGGGCCTCCTCGCTATTCTTTCAATGCACGAGGCGTGGTCCTGCCCCAGGGCCTTTGCACAGCCTGTGCCTCTGCCCAGCTCCCTCCTTCCCTAGACCTTCTCCCTCCCGCCCCCGGTCTCTACCTTCACGCCAGCCTCCCCTCCTCCAGAACTCCCTATTAAAATTGCAGCCCCTGCCACACTCCACATCTGACTTTCCTGGTTTTTTTTTCTCCCTATCACTTATCACTGTCTGAAGTCTTTTGTTTTAGATTTGTTTTTTATTTGTATTGAGTCAGGGTCTGGCTCTGTTGCACAGGCTGGAGTGCAGCAGTGTGATCACAGCTCCCTGCAGCCTCGACCTTCTGGGCTCAAGTGATCCTCTTGCCTCAGCTTCTTGGGTAGCTGGGATGACAGGTGTGCACCAGTACACCCGGCACATTTTAAAAACGTTTGTGGAGATGGGGTCTTGCTGTGTCACCCAGGCTGGTCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCGCACCTGGCCTGGTTTAGCTTTAAAAAAAAAAATCTTTCTTGTGCTTACTGCCGTGTCCCCACTGCCTGGTGTGCGGTGACATTGGGTGATGGCGGGGCGTTGGACCACAGGACTGGTGTGTGAGGTGCCGCCTAGAGATGGGGTGACCTGGTGATCTGGGAGTGATCTGGGGAGCCCAGGCTGGAGACGGGGAGGGTAGCTACTGCAGCTCCTGCCCTGGTGCCGCACTTCTGTCCCGGGAGGTGGCGCTGGCCCAGACTGTCCCATCCCATGCCTCAGGGCCCCCTCCTGCTGCACTGGGCCAGCCGTGCTTGCCAGTCCCAGCGGGTTCTCGGCCCCGCGACAGCCTCCTTGCTCAGAGCTCTTGGGCGATGCGGCTGGGTTGGACAGAGCAGATGCTGGCCATGCCTCCACTGGGGACATGCACAGGGCCTGGGGTCTGTGGGGACGTGAGGAACGGTCTGACGATGACGACACACCCAGCATCAGCCCGCCTCCACCTGGAGGCCCACCAGCACCTGGCCCGGGACCCACCCTCTCTCCAGAACCTGTCGCTGTGCCCCGGACGGTAGGACCGGTGATGGGTCTGAAAGGCAGCTCCATCCACTCCTGGCCGTGCGACTTTGGGGACCTGGCTTCCTGCCTAAGCCCCGGTTTCCCTCTCTATAGAATGGGCTGACAGCTGTGCCCGAGGTCCAGGGCACAACGGAGAGGGGAGTGCTCACATGGCGAGCACACGGTGAGAGGAGACCAGGCTCGCGGGAGCTGCTGCTATTTGTTATTTCCAGGGGACTGGGAGCCTGGAGAGTGGGCAGCTCTGCTGATGGGGATTAGGAGAAGCAGAGAGATTTACACTCATCTTACAGAGTCAGCGGTCCCGCCACCCACAGCCTCGCAGCCCTCGAACCTCGGAGGCCCCCACGCCCAATTAACAGACAGGAGACTGAGGCCCCAGGAGGGGAGGAGGTCCCCGCACCTGGCCTGAGAATACTTGGGTCACCTCCTGCCTGACACTGGGGGCCAGTCCGCTGCCAGCAGGACGGGTGGCGATGGGGTGGGAGACGGGATGGGGGCAGGGAACCCAGCAGCCTGTCTCTCTGGTCCCGCTCCCCAGTGGTGGTGGCCTGGCCTGACCACGGTTGCTCCATGACCTCGGCCTAGGCCAAGGCGTGGTGGCTGTCACCAGGGCACGTCCCCGGTTCTCGGGTTGGGCCGAGGAGGGGGCCCGGGAGGGCGGCAGGCTCAGGCTGGCGGCCAGGCCCTGTCCAGAGCCTGTGCATGTTCCTTGGCCAGCAGCCGCAGGGACGCCTCCTCCAGGGCGAAGCCATCTGCGAAGGTGGGAGCAAAGGCATGAGGCCCGAAGGACGCTTGCAGCCCCGGGCCCGGGCGCAGGAGGCGGGGGAGGCCTGGCACGGCCGGCGGTCCGGGGCCCAACCAGGGCTCCAGGGGCAGCGACATGGCCGGGGGGCGGGCGAACGGCAGCGCTGGGGCCTCGGGGAGTCTCGGAGCTGCCACGGCACCCGAGCCTGACTCCAGCCGCTCCTGGCGGCGCCACTTGGCCCGGCGGTTCTGGAACCACACCTGGAGGGTGCGAGAGGGAAGGGGGGTTGCTGTGAGCTCAGCCGCTCCCCGCCAATCCTCGGACCCCCTCTGCACACCCCAGCCCTGGGGGTTCTGACTCCCGTCTGACCCGACTCCTACCTGCTGCTTCGCTGTTCTGCCCCAAGAAGATGAGGATCTCCCAAGCGTTCCCTAAGCCCAGGCTCCCCTCCAACTCCTCACTCCCCTCCTTGGCCTCCCTTGGCCCTTAGCAAGTAACCTGAGCTGCCTAACGTGGCATTCAAGGCCTTCAAAAGCGTTGTTACCCACACCATTCTCTGCCTCCTCCTTCACCCCTGGCTCAAGGGAAACGCCTCCAACTTAACCCCTCCATGTCTTTGCACACACTGTTCAGGATGCCTAGAAAAACTCCCCTTTTCCTTCCCAGCTGGCACACTCCTACTCAAATGTCAAAACCTCAGCTCCCACACCCCCTCCTCCAGGAAGCCTTCCTAGCTTCTCTTCTGCTGTTGCTCCGGGAGGGTCAGGATCTTGCTTTGCCTCCCTCCCCAGGTTGCAAAAGATGTGTGTGTTGGGGGGTGCCCTCACCTGCACGCGCACCTCAGGTAGGTGCACCTTGGCTGCCAGCTCCTCACGGCTGTACACATCCGGGTAGTGAGAGGCCTCGAACGCCCGCTCCAGCTGGTGCAGCTGGTAGGTGGTGAAGGTGGTGCGGTTCCTCCGGTGCTTCTTCTTGGGGGCCTCCTCGCCCGGCCCCAGACCCCCACCCTCGGTTGCCGGCCCCTCGCCCGGGCTCAGGAACATGGCTCCCACCTGGTGGGACGGCAGCGGGACAGATGGTGGGGAGACGGCTGGGGGGGCTACCGGCAGGGACAGGGCAGGGGAGCCCCAGGCTTGCCTCCCGGCTCCGGGGAAATCGGTTCCCTCCACTGGGGCCGGCATGCGCTCTGCATCCCCAGGCTGTCCTCCTCGGGCTTGGGGGGGTCTCCTGCTGTGCCTCTGTCTGCTCTTCCTTCTCTCTGTGTGTGTCACCGTCCCTGTTTTCTCTTCCCCTCTCTGTGACTGTCACGGCCTGTGTGTGTGTGTGTCGGCGGGGGGGGGTCAAGGATGCCCCCCCGTCAAGGAAGGCAGGATCCCTTCTCACGCCCTAAGCCCTCCACCCTGAGGGGATCTCTGCCCCCACCACCTCCTACCCAGGCCCACCAGTGCCCACCCCGCACTCACCGCCCACGGCAGCCCCTCCGTCGATTTCCACGGGACACCTGCCCCAGCGGGCCTGGCGCTGCGTCTGCTGTGGCCTGGCCCTGCCGGAGCCGAGCCAGGTCGGGGCTGCGTGGGGGAGGATTAGCTCAAGGTGATTAATTGAGGCGGCCCCTCCCACTTGGTCCTGGGCTGTTCTGAGCCAGGAGGGAGGGCAGGGTGGATGGAGGGCTGGGGCTCTAAGTGGGTGGCTGGGGGGATAGTCTTACAGGCTCCACGGCCCCTTGCCATAAGACGGCAAGGGCCTCTCCCTCTCTGGGCCTCAGTTTCCCTGGCTGTAAAACTGCCACACTAGGACCTACCCTGGGGGGATTTCAGCTTCTCAGAGCATCGCACAGAAATTGGCATACAGGGGGCACTTAATGAATGCTCACTGTTAATATTTTTATCTGCTGGGGGCAGAAAAAGGTGTCTTAGAACTCACAGATGTCAGAGGCAGTTGGGGAAGCTGAGGTCCAGAGGTGAAGGCACTGCAGTTGGTTCCTCTGGACACAAGGGGTAGGGACCCTTTTAGCTGGGTCTGGAGGTATGAATAGACGTTCACCATTCACAGCCGGGCGCAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACC
Task1_train_26313
This alteration in RAX2 (retina and anterior neural fold homeobox 2) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Retinitis pigmentosa 95
GAGCCCAGGCTGGAGACGGGGAGGGTAGCTACTGCAGCTCCTGCCCTGGTGCCGCACTTCTGTCCCGGGAGGTGGCGCTGGCCCAGACTGTCCCATCCCATGCCTCAGGGCCCCCTCCTGCTGCACTGGGCCAGCCGTGCTTGCCAGTCCCAGCGGGTTCTCGGCCCCGCGACAGCCTCCTTGCTCAGAGCTCTTGGGCGATGCGGCTGGGTTGGACAGAGCAGATGCTGGCCATGCCTCCACTGGGGACATGCACAGGGCCTGGGGTCTGTGGGGACGTGAGGAACGGTCTGACGATGACGACACACCCAGCATCAGCCCGCCTCCACCTGGAGGCCCACCAGCACCTGGCCCGGGACCCACCCTCTCTCCAGAACCTGTCGCTGTGCCCCGGACGGTAGGACCGGTGATGGGTCTGAAAGGCAGCTCCATCCACTCCTGGCCGTGCGACTTTGGGGACCTGGCTTCCTGCCTAAGCCCCGGTTTCCCTCTCTATAGAATGGGCTGACAGCTGTGCCCGAGGTCCAGGGCACAACGGAGAGGGGAGTGCTCACATGGCGAGCACACGGTGAGAGGAGACCAGGCTCGCGGGAGCTGCTGCTATTTGTTATTTCCAGGGGACTGGGAGCCTGGAGAGTGGGCAGCTCTGCTGATGGGGATTAGGAGAAGCAGAGAGATTTACACTCATCTTACAGAGTCAGCGGTCCCGCCACCCACAGCCTCGCAGCCCTCGAACCTCGGAGGCCCCCACGCCCAATTAACAGACAGGAGACTGAGGCCCCAGGAGGGGAGGAGGTCCCCGCACCTGGCCTGAGAATACTTGGGTCACCTCCTGCCTGACACTGGGGGCCAGTCCGCTGCCAGCAGGACGGGTGGCGATGGGGTGGGAGACGGGATGGGGGCAGGGAACCCAGCAGCCTGTCTCTCTGGTCCCGCTCCCCAGTGGTGGTGGCCTGGCCTGACCACGGTTGCTCCATGACCTCGGCCTAGGCCAAGGCGTGGTGGCTGTCACCAGGGCACGTCCCCGGTTCTCGGGTTGGGCCGAGGAGGGGGCCCGGGAGGGCGGCAGGCTCAGGCTGGCGGCCAGGCCCTGTCCAGAGCCTGTGCATGTTCCTTGGCCAGCAGCCGCAGGGACGCCTCCTCCAGGGCGAAGCCATCTGCGAAGGTGGGAGCAAAGGCATGAGGCCCGAAGGACGCTTGCAGCCCCGGGCCCGGGCCCAGGAGGCGGGGGAGGCCTGGCACGGCCGGCGGTCCGGGGCCCAACCAGGGCTCCAGGGGCAGCGACATGGCCGGGGGGCGGGCGAACGGCAGCGCTGGGGCCTCGGGGAGTCTCGGAGCTGCCACGGCACCCGAGCCTGACTCCAGCCGCTCCTGGCGGCGCCACTTGGCCCGGCGGTTCTGGAACCACACCTGGAGGGTGCGAGAGGGAAGGGGGGTTGCTGTGAGCTCAGCCGCTCCCCGCCAATCCTCGGACCCCCTCTGCACACCCCAGCCCTGGGGGTTCTGACTCCCGTCTGACCCGACTCCTACCTGCTGCTTCGCTGTTCTGCCCCAAGAAGATGAGGATCTCCCAAGCGTTCCCTAAGCCCAGGCTCCCCTCCAACTCCTCACTCCCCTCCTTGGCCTCCCTTGGCCCTTAGCAAGTAACCTGAGCTGCCTAACGTGGCATTCAAGGCCTTCAAAAGCGTTGTTACCCACACCATTCTCTGCCTCCTCCTTCACCCCTGGCTCAAGGGAAACGCCTCCAACTTAACCCCTCCATGTCTTTGCACACACTGTTCAGGATGCCTAGAAAAACTCCCCTTTTCCTTCCCAGCTGGCACACTCCTACTCAAATGTCAAAACCTCAGCTCCCACACCCCCTCCTCCAGGAAGCCTTCCTAGCTTCTCTTCTGCTGTTGCTCCGGGAGGGTCAGGATCTTGCTTTGCCTCCCTCCCCAGGTTGCAAAAGATGTGTGTGTTGGGGGGTGCCCTCACCTGCACGCGCACCTCAGGTAGGTGCACCTTGGCTGCCAGCTCCTCACGGCTGTACACATCCGGGTAGTGAGAGGCCTCGAACGCCCGCTCCAGCTGGTGCAGCTGGTAGGTGGTGAAGGTGGTGCGGTTCCTCCGGTGCTTCTTCTTGGGGGCCTCCTCGCCCGGCCCCAGACCCCCACCCTCGGTTGCCGGCCCCTCGCCCGGGCTCAGGAACATGGCTCCCACCTGGTGGGACGGCAGCGGGACAGATGGTGGGGAGACGGCTGGGGGGGCTACCGGCAGGGACAGGGCAGGGGAGCCCCAGGCTTGCCTCCCGGCTCCGGGGAAATCGGTTCCCTCCACTGGGGCCGGCATGCGCTCTGCATCCCCAGGCTGTCCTCCTCGGGCTTGGGGGGGTCTCCTGCTGTGCCTCTGTCTGCTCTTCCTTCTCTCTGTGTGTGTCACCGTCCCTGTTTTCTCTTCCCCTCTCTGTGACTGTCACGGCCTGTGTGTGTGTGTGTCGGCGGGGGGGGGTCAAGGATGCCCCCCCGTCAAGGAAGGCAGGATCCCTTCTCACGCCCTAAGCCCTCCACCCTGAGGGGATCTCTGCCCCCACCACCTCCTACCCAGGCCCACCAGTGCCCACCCCGCACTCACCGCCCACGGCAGCCCCTCCGTCGATTTCCACGGGACACCTGCCCCAGCGGGCCTGGCGCTGCGTCTGCTGTGGCCTGGCCCTGCCGGAGCCGAGCCAGGTCGGGGCTGCGTGGGGGAGGATTAGCTCAAGGTGATTAATTGAGGCGGCCCCTCCCACTTGGTCCTGGGCTGTTCTGAGCCAGGAGGGAGGGCAGGGTGGATGGAGGGCTGGGGCTCTAAGTGGGTGGCTGGGGGGATAGTCTTACAGGCTCCACGGCCCCTTGCCATAAGACGGCAAGGGCCTCTCCCTCTCTGGGCCTCAGTTTCCCTGGCTGTAAAACTGCCACACTAGGACCTACCCTGGGGGGATTTCAGCTTCTCAGAGCATCGCACAGAAATTGGCATACAGGGGGCACTTAATGAATGCTCACTGTTAATATTTTTATCTGCTGGGGGCAGAAAAAGGTGTCTTAGAACTCACAGATGTCAGAGGCAGTTGGGGAAGCTGAGGTCCAGAGGTGAAGGCACTGCAGTTGGTTCCTCTGGACACAAGGGGTAGGGACCCTTTTAGCTGGGTCTGGAGGTATGAATAGACGTTCACCATTCACAGCCGGGCGCAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGATCATGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTATAACTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGTGGGGTGGAGCTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAACAAAAAACCAAAACCACCACCAACAAAAAAGAAAAACAGAAGTTCACCATTCAATAAACATTTATTGAGCACTTACTGTGTACCAGGTACTGCTCACAGCAGTAGTGACCAAAACAGACAGAAGTCACGGGGCTGACTTTCTAGCAGGGCAGACAGACAACCAACCACTGTGTTAAAATGCAGAGCGTGGCCAGTGGCCACGAGCCTAGGGAGAAAACCCACGGAGGGGGGCCTGTGGGGGCAAGGTGGGTTGATATTTCATTTAGTTTTTGGGTTTTTTTTTGAGACAGAGTCCTACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCTGCAACCACGCCTGGCTAATTTTTGTATTTTTTAGTAGAGACACGGTTTCGCCACCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCTACCCCGCCTGGCCTATTTTTGTTTTTTTGAGAAGGAGTCTCACTCTGT
GAGCCCAGGCTGGAGACGGGGAGGGTAGCTACTGCAGCTCCTGCCCTGGTGCCGCACTTCTGTCCCGGGAGGTGGCGCTGGCCCAGACTGTCCCATCCCATGCCTCAGGGCCCCCTCCTGCTGCACTGGGCCAGCCGTGCTTGCCAGTCCCAGCGGGTTCTCGGCCCCGCGACAGCCTCCTTGCTCAGAGCTCTTGGGCGATGCGGCTGGGTTGGACAGAGCAGATGCTGGCCATGCCTCCACTGGGGACATGCACAGGGCCTGGGGTCTGTGGGGACGTGAGGAACGGTCTGACGATGACGACACACCCAGCATCAGCCCGCCTCCACCTGGAGGCCCACCAGCACCTGGCCCGGGACCCACCCTCTCTCCAGAACCTGTCGCTGTGCCCCGGACGGTAGGACCGGTGATGGGTCTGAAAGGCAGCTCCATCCACTCCTGGCCGTGCGACTTTGGGGACCTGGCTTCCTGCCTAAGCCCCGGTTTCCCTCTCTATAGAATGGGCTGACAGCTGTGCCCGAGGTCCAGGGCACAACGGAGAGGGGAGTGCTCACATGGCGAGCACACGGTGAGAGGAGACCAGGCTCGCGGGAGCTGCTGCTATTTGTTATTTCCAGGGGACTGGGAGCCTGGAGAGTGGGCAGCTCTGCTGATGGGGATTAGGAGAAGCAGAGAGATTTACACTCATCTTACAGAGTCAGCGGTCCCGCCACCCACAGCCTCGCAGCCCTCGAACCTCGGAGGCCCCCACGCCCAATTAACAGACAGGAGACTGAGGCCCCAGGAGGGGAGGAGGTCCCCGCACCTGGCCTGAGAATACTTGGGTCACCTCCTGCCTGACACTGGGGGCCAGTCCGCTGCCAGCAGGACGGGTGGCGATGGGGTGGGAGACGGGATGGGGGCAGGGAACCCAGCAGCCTGTCTCTCTGGTCCCGCTCCCCAGTGGTGGTGGCCTGGCCTGACCACGGTTGCTCCATGACCTCGGCCTAGGCCAAGGCGTGGTGGCTGTCACCAGGGCACGTCCCCGGTTCTCGGGTTGGGCCGAGGAGGGGGCCCGGGAGGGCGGCAGGCTCAGGCTGGCGGCCAGGCCCTGTCCAGAGCCTGTGCATGTTCCTTGGCCAGCAGCCGCAGGGACGCCTCCTCCAGGGCGAAGCCATCTGCGAAGGTGGGAGCAAAGGCATGAGGCCCGAAGGACGCTTGCAGCCCCGGGCCCGGGCCCAGGAGGCGGGGGAGGCCTGGCACGGCCGGCGGTCCGGGGCCCAACCAGGGCTCCAGGGGCAGCGACATGGCCGGGGGGCGGGCGAACGGCAGCGCTGGGGCCTCGGGGAGTCTCGGAGCTGCCACGGCACCCGAGCCTGACTCCAGCCGCTCCTGGCGGCGCCACTTGGCCCGGCGGTTCTGGAACCACACCTGGAGGGTGCGAGAGGGAAGGGGGGTTGCTGTGAGCTCAGCCGCTCCCCGCCAATCCTCGGACCCCCTCTGCACACCCCAGCCCTGGGGGTTCTGACTCCCGTCTGACCCGACTCCTACCTGCTGCTTCGCTGTTCTGCCCCAAGAAGATGAGGATCTCCCAAGCGTTCCCTAAGCCCAGGCTCCCCTCCAACTCCTCACTCCCCTCCTTGGCCTCCCTTGGCCCTTAGCAAGTAACCTGAGCTGCCTAACGTGGCATTCAAGGCCTTCAAAAGCGTTGTTACCCACACCATTCTCTGCCTCCTCCTTCACCCCTGGCTCAAGGGAAACGCCTCCAACTTAACCCCTCCATGTCTTTGCACACACTGTTCAGGATGCCTAGAAAAACTCCCCTTTTCCTTCCCAGCTGGCACACTCCTACTCAAATGTCAAAACCTCAGCTCCCACACCCCCTCCTCCAGGAAGCCTTCCTAGCTTCTCTTCTGCTGTTGCTCCGGGAGGGTCAGGATCTTGCTTTGCCTCCCTCCCCAGGTTGCAAAAGATGTGTGTGTTGGGGGGTGCCCTCACCTGCACGCGCACCTCAGGTAGGTGCACCTTGGCTGCCAGCTCCTCACGGCTGTACACATCCGGGTAGTGAGGGGCCTCGAACGCCCGCTCCAGCTGGTGCAGCTGGTAGGTGGTGAAGGTGGTGCGGTTCCTCCGGTGCTTCTTCTTGGGGGCCTCCTCGCCCGGCCCCAGACCCCCACCCTCGGTTGCCGGCCCCTCGCCCGGGCTCAGGAACATGGCTCCCACCTGGTGGGACGGCAGCGGGACAGATGGTGGGGAGACGGCTGGGGGGGCTACCGGCAGGGACAGGGCAGGGGAGCCCCAGGCTTGCCTCCCGGCTCCGGGGAAATCGGTTCCCTCCACTGGGGCCGGCATGCGCTCTGCATCCCCAGGCTGTCCTCCTCGGGCTTGGGGGGGTCTCCTGCTGTGCCTCTGTCTGCTCTTCCTTCTCTCTGTGTGTGTCACCGTCCCTGTTTTCTCTTCCCCTCTCTGTGACTGTCACGGCCTGTGTGTGTGTGTGTCGGCGGGGGGGGGTCAAGGATGCCCCCCCGTCAAGGAAGGCAGGATCCCTTCTCACGCCCTAAGCCCTCCACCCTGAGGGGATCTCTGCCCCCACCACCTCCTACCCAGGCCCACCAGTGCCCACCCCGCACTCACCGCCCACGGCAGCCCCTCCGTCGATTTCCACGGGACACCTGCCCCAGCGGGCCTGGCGCTGCGTCTGCTGTGGCCTGGCCCTGCCGGAGCCGAGCCAGGTCGGGGCTGCGTGGGGGAGGATTAGCTCAAGGTGATTAATTGAGGCGGCCCCTCCCACTTGGTCCTGGGCTGTTCTGAGCCAGGAGGGAGGGCAGGGTGGATGGAGGGCTGGGGCTCTAAGTGGGTGGCTGGGGGGATAGTCTTACAGGCTCCACGGCCCCTTGCCATAAGACGGCAAGGGCCTCTCCCTCTCTGGGCCTCAGTTTCCCTGGCTGTAAAACTGCCACACTAGGACCTACCCTGGGGGGATTTCAGCTTCTCAGAGCATCGCACAGAAATTGGCATACAGGGGGCACTTAATGAATGCTCACTGTTAATATTTTTATCTGCTGGGGGCAGAAAAAGGTGTCTTAGAACTCACAGATGTCAGAGGCAGTTGGGGAAGCTGAGGTCCAGAGGTGAAGGCACTGCAGTTGGTTCCTCTGGACACAAGGGGTAGGGACCCTTTTAGCTGGGTCTGGAGGTATGAATAGACGTTCACCATTCACAGCCGGGCGCAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGATCATGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTATAACTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGTGGGGTGGAGCTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAACAAAAAACCAAAACCACCACCAACAAAAAAGAAAAACAGAAGTTCACCATTCAATAAACATTTATTGAGCACTTACTGTGTACCAGGTACTGCTCACAGCAGTAGTGACCAAAACAGACAGAAGTCACGGGGCTGACTTTCTAGCAGGGCAGACAGACAACCAACCACTGTGTTAAAATGCAGAGCGTGGCCAGTGGCCACGAGCCTAGGGAGAAAACCCACGGAGGGGGGCCTGTGGGGGCAAGGTGGGTTGATATTTCATTTAGTTTTTGGGTTTTTTTTTGAGACAGAGTCCTACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCTGCAACCACGCCTGGCTAATTTTTGTATTTTTTAGTAGAGACACGGTTTCGCCACCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCTACCCCGCCTGGCCTATTTTTGTTTTTTTGAGAAGGAGTCTCACTCTGT
Task1_train_26314
A variant on Chromosome 19 in gene ATCAY (ATCAY kinesin light chain interacting caytaxin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; not provided
TTGAATTGAATAAAGATTCCTAATGTTCACGTTCCCAGTTACAAATCTGGGATGAGCGAAAGAGACGAGGGCTTCACTTTCCCTTGAACAACAGGACACATTCACAGCAGGCCCGATTTTCAAGGAAGACTCTTTAAACATGCTGTTTTCAAGGACTGCTAAGTACCCTGAAGGGGCTTATTTGCATATTAGCGAAATGAGATGAGGAATACACTAATTATGGATCATTTTAGCTAATAATGAATCAACAGGCAAAACGGTAAACACGCATTTCAGTCTAAGATAATTGCATTTGCTCCTCTATATTCCAGAATTCAGTAACATAGACTACCTTTGCCTTTAATGTAGATATTAGGATGGTGCAAAAATAATTGAGGTTCTTGCCATATTTTCATTACAAAAACTGCAATCACTCTTGCACGAACCCAATAATTCTGTCACTCTTCACCGGTCGCCATGGCTCACACCTGTAATCCCAACACTTTGGAAGGTCGAGATGAGAGGATCGCTTGAGCCCGGGAGTTCGAGACCAGCCTGGGTGACATAGCGAGACCCTGTCTCTACAAAAAAAAATTTTTTTTTTTTTCAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTATTCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCAGGCCCAGCTAACTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGAAAAAAATTTTTTTTTAAATACGGCCAGGTGTGGTGACCCAGGCTTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGAGGATCGCTTGAGGCCAGGAGTTGAAGACCAGTCTGGGCAACATAGCAAGACCTCCATCTCTACAAAAAAAAATTTTTTTTAATTAGCCAGGCCTGGTGGCGCGCACCTGTGATCCCAGCTACTCAGAGGCTGAGGGAGGAGGATCACTTGAGCCCAGGAGGTCGAGGCTGTAGTGAGCCATGATTACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCTTAAAAAAAAAATACCATGAAGTGCTGGTGATGAAACACCACATGGTATCAGATGGCCAGAATTCAGGATTGGAAGGGAAAGAAGGGAAAGAACCATTCATCCCTGAAAAACAGAGAATTGGGCCAGGCAGGGTAGCTCATGACTGTAATCCCAGCACTTTGGGAGTTAGAGGCAGGCAGATCACATGAGGTCAGGAGTTGGAGACTAGCCTGGCCAACATGATGAAACCCCATCTCCATTAAAAATACAAAATTAGCCGAGAGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGGAAAATCGCTTGAACCGGGGAGGCGGAGGTGGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGTGAAGAGCAAGACTCTGTGTCAAAAAATAACAATAACAGAGAATCAATGGGCAGCCCCGTGTGCCCCCTTCTTGTGCCCAGCTGAGTGTTGGCTGTGCCGTCCTGTGCGGTGACATGGAGAGAAAGCATCCCTGGGAAAAATTAACACAGAGGAGCAACTTTTAGAGATGATGGGAAAACAGCCTGTAGAGTCTAAGACAATCTCCCCACCTCCTGACTTCCTTCCAACAAGATCCTCATTGCAGGGACCCATGTCAGGTGCATGGCCCTGCTTGCAAGGGCCTCGGCGCAGACCCGGGGTCTCCACTCCATGCATGGGGTGCAAGATAATTAAGGCTGTCATCGGGCGGGAGGGAGGTGTCGTCGTCTGCACTGGGGCATCCTGGAGTGGGGTCCTGTGGGGATCCCTGTCGCCATGGCTCTGTCTGGACCTAGGTAACCCCCACCCCATGGGTTGCATTTCAGACCTCTCCCTCCTTCTCCCCCCGCCAGCGTCAAGTTCATCAACAAGATCCAGTACGTGCACAGCTTGGAAGACCTGGAGCAACTCATCCCTATGGAACACGTCCAGATCCCAGACTGCGTCCTGCAGTGAGTGGCCCCACAGTCCACCCCGCCGTATTAGTCTGTTTTCGTGCTGCTGATAAAGACACACCTGAGACAGGGCAATTTACAAAAGAGGTTTAAGGGGCCGGGCGCGGTGGCTCCTGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGGGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGAGGCGGAGGTTGCAGTAAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCCACAGAGCGAGACTCCATCGCAAAAAAAAAAAAAAAGGGCTAACGGACTCACAATTCCATGTGGCTGGCAACGCCTCCCAATCACGGTGGAAGGCAAAAGGCACGTCTCCCATGGCGGCAGAGAAGAGAAGGAAATTTGTACAGGCAAATTCCCCTTTATAAAACCATCAGATCTCATGAGACTTACTCACTGTCGCGAGAATAGCACAGGAAAGACCTGCCCCCATGATTCAGTGACCTCCCACCAGGTCACTCCCACAACAGGAGGGAATTATGGGAGCTACAATTCAAGATGAGATTTGGGTGAAGAGACCAGGCAAGGTGGCTCACACCTATAATCCCAGCACTGTAATCCCAGCATTTTGAGAGGCTGAGACAGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAAGATGGTGAAACCCTGTCTCTCCTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTAATCCCAGATACTGAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAGAAAAAAAAAAAAAGATTTGGGTGGAGATACAGTCAAACCCTGTCACCCCCAACACCCCCCCACCGGGTCCCCCTGGCTACCAGGAGCCAGCAATGAGGGGAAACGCAGACTTGGAAGGGAGGAACTAGAACCCACCCATTTTATTTCCTGGAGCCCCTCAGGGACCCCCCGGAGCTTGGGGAAGGGATGGGCAGCTTCAAGTCCTGTTGTTTTTCACTGAATGTCATATCATCGGCACCTCCCCTAGGTTCATGCTGCAAAAATCTCCTTAAACGTACATTTTTTTATTGTGGTAAAATACACGTAACATAGAACTTCCCATCTTAGCCATTCCTTTTTTAATTTTATTTATTTATTTATTTTTTGAGAAGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGCATGAGCCGCCATGCCTGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTCGTCAAGCTGGTCTCAAACCCCTGACCTCAGATGATCTACCGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTATCTTAGCCATTTCTAAAAGCACATTCGCATATTTGTGCAGCCATCACCACCATCCTCTCCAGACCTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTAAGGCACCCACCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAACTCTTGTTGCCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC
TTGAATTGAATAAAGATTCCTAATGTTCACGTTCCCAGTTACAAATCTGGGATGAGCGAAAGAGACGAGGGCTTCACTTTCCCTTGAACAACAGGACACATTCACAGCAGGCCCGATTTTCAAGGAAGACTCTTTAAACATGCTGTTTTCAAGGACTGCTAAGTACCCTGAAGGGGCTTATTTGCATATTAGCGAAATGAGATGAGGAATACACTAATTATGGATCATTTTAGCTAATAATGAATCAACAGGCAAAACGGTAAACACGCATTTCAGTCTAAGATAATTGCATTTGCTCCTCTATATTCCAGAATTCAGTAACATAGACTACCTTTGCCTTTAATGTAGATATTAGGATGGTGCAAAAATAATTGAGGTTCTTGCCATATTTTCATTACAAAAACTGCAATCACTCTTGCACGAACCCAATAATTCTGTCACTCTTCACCGGTCGCCATGGCTCACACCTGTAATCCCAACACTTTGGAAGGTCGAGATGAGAGGATCGCTTGAGCCCGGGAGTTCGAGACCAGCCTGGGTGACATAGCGAGACCCTGTCTCTACAAAAAAAAATTTTTTTTTTTTTCAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTATTCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCAGGCCCAGCTAACTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGAAAAAAATTTTTTTTTAAATACGGCCAGGTGTGGTGACCCAGGCTTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGAGGATCGCTTGAGGCCAGGAGTTGAAGACCAGTCTGGGCAACATAGCAAGACCTCCATCTCTACAAAAAAAAATTTTTTTTAATTAGCCAGGCCTGGTGGCGCGCACCTGTGATCCCAGCTACTCAGAGGCTGAGGGAGGAGGATCACTTGAGCCCAGGAGGTCGAGGCTGTAGTGAGCCATGATTACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCTTAAAAAAAAAATACCATGAAGTGCTGGTGATGAAACACCACATGGTATCAGATGGCCAGAATTCAGGATTGGAAGGGAAAGAAGGGAAAGAACCATTCATCCCTGAAAAACAGAGAATTGGGCCAGGCAGGGTAGCTCATGACTGTAATCCCAGCACTTTGGGAGTTAGAGGCAGGCAGATCACATGAGGTCAGGAGTTGGAGACTAGCCTGGCCAACATGATGAAACCCCATCTCCATTAAAAATACAAAATTAGCCGAGAGTGGTGGTGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGGAAAATCGCTTGAACCGGGGAGGCGGAGGTGGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGTGAAGAGCAAGACTCTGTGTCAAAAAATAACAATAACAGAGAATCAATGGGCAGCCCCGTGTGCCCCCTTCTTGTGCCCAGCTGAGTGTTGGCTGTGCCGTCCTGTGCGGTGACATGGAGAGAAAGCATCCCTGGGAAAAATTAACACAGAGGAGCAACTTTTAGAGATGATGGGAAAACAGCCTGTAGAGTCTAAGACAATCTCCCCACCTCCTGACTTCCTTCCAACAAGATCCTCATTGCAGGGACCCATGTCAGGTGCATGGCCCTGCTTGCAAGGGCCTCGGCGCAGACCCGGGGTCTCCACTCCATGCATGGGGTGCAAGATAATTAAGGCTGTCATCGGGCGGGAGGGAGGTGTCGTCGTCTGCACTGGGGCATCCTGGAGTGGGGTCCTGTGGGGATCCCTGTCGCCATGGCTCTGTCTGGACCTAGGTAACCCCCACCCCATGGGTTGCATTTCAGACCTCTCCCTCCTTCTCCCCCCGCCAGCGTCAAGTTCATCAACAAGATCCAGTACGTGCACAGGTTGGAAGACCTGGAGCAACTCATCCCTATGGAACACGTCCAGATCCCAGACTGCGTCCTGCAGTGAGTGGCCCCACAGTCCACCCCGCCGTATTAGTCTGTTTTCGTGCTGCTGATAAAGACACACCTGAGACAGGGCAATTTACAAAAGAGGTTTAAGGGGCCGGGCGCGGTGGCTCCTGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGGGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCGGAGGCGGAGGTTGCAGTAAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCCACAGAGCGAGACTCCATCGCAAAAAAAAAAAAAAAGGGCTAACGGACTCACAATTCCATGTGGCTGGCAACGCCTCCCAATCACGGTGGAAGGCAAAAGGCACGTCTCCCATGGCGGCAGAGAAGAGAAGGAAATTTGTACAGGCAAATTCCCCTTTATAAAACCATCAGATCTCATGAGACTTACTCACTGTCGCGAGAATAGCACAGGAAAGACCTGCCCCCATGATTCAGTGACCTCCCACCAGGTCACTCCCACAACAGGAGGGAATTATGGGAGCTACAATTCAAGATGAGATTTGGGTGAAGAGACCAGGCAAGGTGGCTCACACCTATAATCCCAGCACTGTAATCCCAGCATTTTGAGAGGCTGAGACAGGCAGATCACTTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAAGATGGTGAAACCCTGTCTCTCCTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTAATCCCAGATACTGAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGTGGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAGAAAAAAAAAAAAAGATTTGGGTGGAGATACAGTCAAACCCTGTCACCCCCAACACCCCCCCACCGGGTCCCCCTGGCTACCAGGAGCCAGCAATGAGGGGAAACGCAGACTTGGAAGGGAGGAACTAGAACCCACCCATTTTATTTCCTGGAGCCCCTCAGGGACCCCCCGGAGCTTGGGGAAGGGATGGGCAGCTTCAAGTCCTGTTGTTTTTCACTGAATGTCATATCATCGGCACCTCCCCTAGGTTCATGCTGCAAAAATCTCCTTAAACGTACATTTTTTTATTGTGGTAAAATACACGTAACATAGAACTTCCCATCTTAGCCATTCCTTTTTTAATTTTATTTATTTATTTATTTTTTGAGAAGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAACTAGCTGGGATTACAGGCATGAGCCGCCATGCCTGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTCGTCAAGCTGGTCTCAAACCCCTGACCTCAGATGATCTACCGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTATCTTAGCCATTTCTAAAAGCACATTCGCATATTTGTGCAGCCATCACCACCATCCTCTCCAGACCTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTAAGGCACCCACCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTAACTCTTGTTGCCCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC
Task1_train_26315
A change on Chromosome 19 affects gene EEF2 (eukaryotic translation elongation factor 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; not provided
CAGAGTCACCACCTTATCAAATTTATTATTCCAATGGCACTAGTACAGCTGGAGGTGCTCATGGTGACACCGCACAGGACTTCCTGCCTGCTAGAAATCATCTACCCGCGTGTTCCTTTCCCCTTTCTGGGGCAAAAGCCACTGCGGGCCATGTACCCAAATAAACCTCTTAATGCGTTTGTTAAAATTAGTTTGGACATCTGAGTTTCCCTCTGAAGAAATGGAAAAAGTGTTGGGTGTCCCATCCCGCCTCCCCCTCCCCGACCGGCCCATTAAGTCCCTACTAAGAGGGCGTGTCTGCTGCCTCCGGACTCTGGAAATAAATATTGAAAGAAACGGCATCAAGTGTTATGGTTGAGTGATGGCACGCAGCGGGCCCCAGAAACCTCTCAGGGGAGCGTCGCTGTGTCGGGACAGTCTCCAGGTGTCGTCTGAGAATTCGAGGACGTGGTGCTGTGGGTGCTGCGAGTCCCCGGGGCGGCAGGCGCTGCAGGAAGGGCCGCCTACAATTTGTCCAGGAAGTTGTCCAGGGCAGGGATGCCTTCTTTCAGGCCCTTGCGCTTGCGGGTCTCCGCCACCACCTGGCTGGGGCGGCTGCTGTTGTCGAAGGGGTCTCCGGGCAGGATCTGCCAGTGGTCAAACACACACTGGGGGAACGCCTGGCCGCCCGTGTTGGACCTCAGGTCAGCGGTGAAGCCTGCAGAGGGAAGCGAGAGGCTCACTGGGCCATCGAGAAGGTGGCAGGGCAGAAGGAAAGTCCTGTCAGGAGCTCAGGCTAGTTCCTCAGCCTGAGTCACCCTGCAGACCAGACACTCGGCCTGGTGCCCAGCACTTCACGAAGGGCCTAGCAGGCCACTCATGGGCCTCATGCCGCTGCTCGTTTGGGACAACCCTGTGCTACAGCTCGGCTGCTCTACCGGCCCAGGGCGTAGGCCTTCAGAGCTCCAGGCCCAGAGCCCTTCTCACACTGGGGATAGGAGAGCCCCTCCCCTGGGAATTCAGTGATTTAGGGGGTCCACAAGCTGTCAGAAACTGGACCACCTGCTCCATCCATCACCTGCTCCCATCAGGACGCCTCCTTTAACACCTTGCTAAGCTTAACTGGGCTTCTGTCCCCCAAACCAGCCTGCCAGGCTCTGCAGGCCACACCGGGCAGGCACTCACCAAAGGACTCGTTGACGGGCAGATAGGCCTTGACCACAAACATGGGGGTGCCGGCCACCTGGGACTCCTCGAACACGTGGCCCCGCTTCCTGTTCAAAACCCCGTAGATGCCACCGACCACCTGCTCTGGACACTGCCAGAAGGGAAAGAAAACCTGTCAGTGGCCGCTGGGCAGGACGGTGGCAGGGTCAGCGGTGGGCGGGTAGACCTCACCTGGATCTCCACAAGGTAGATGGGCTCCATGAGGCGTGGCTGGGCGGTCAGCACACTGGCATAGAGGCAGCGCCGTGCTGTGGGGATGATCTGGCCCCCTCCGCGGTGGATGGCGTCGGCGTGCAGGGTGACGTCGTGGACGTCGAAGCGCACACCCCGCATGTTCTCCTCACACAGTGCGCCCTGGGGGAGGGGGAGAGCCACCGTCAAGGGCCGGACACACCTCGGCTGCTTGCCCTCCACCTGCCAAGTCCTGCAGGTCTCCACCAGGGGGACCTGGGGCCTTGCCCGCCTTGGCCCCATTAGGGTCTCTGTCTCGGGAGGCAGGACCATGAGGTCCCTCTAGAGCCTGGAAACGGGTGTGGTCTGCACATGCTGAGCCGTGCCTCACCTCCTTGGTGGCCCACTGGAAGCCGGCCACCACACTGTCCTTGATCTCGTTGAGGTACTGCACACCCTTGGTGATGTCGGTGAGGATGTTGGGGCCGGTGCCGTCGGGCCCAAAGCACCAGATCTTGCGGGCCTCAGCCACGTCCCACTCGTACTTCTCGGCCAGGTAGCGCGCCCGCTGCTTGAGCTCCTGACGGGCGGACACCTCGCCTTTATCGATGTCCTCGGCCAGGCCGTCGGGGAAGGGCCGCGCCTTCATGTACAGCCGGTTGTGCTTGTTGGGGGACTTGGAGAGGCAGAGCACGTTCGACTCTTCACTGACCGTCTCGCGGTACGAGACGACCGGGTCAGATTTCTGCAAAAAGAGGTTAAGTCCCACTCTTGCCTGGAGAAAGAGGTGACCTTACACACAGACGCATCCTTAAAAGCTTTTCCTAGCAAGGCGGACCTCATACAGCCTGGTAGAGCCACGTCAATCAGAACGAAGCGGAGTCAGTGTTGCAGTGCCAAGCGCATCTCACTCCAGACAAGGACAAGGAGCAGGGGCTCCACTGAGCTCTCCGGCGCAGAAACCACGGGCTTGTGGAATTTTAAGCATTAACAGGGAAGAAACGAGGTCTGGAGCAGGCCTGTCCCAACCCCTCCAGAGCATTTGTGTTGTTTGTGGACAGAAGACAGCAGGATGTAACTCAAAAACTGCCCCGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCCAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCATGATGGCAGGCGCCTGAAGTCCCAGCTACAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAAGCAGAGCTTGCAGTGAGCCAAGATCACGCCATTGCACTCCAGCCTAAGCAACAGAGCAAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATAGCCCTGGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGGGGATCACGAGGTCAGGAGATCGAGACCATCTTGACTTACTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTAGCACGCGCCTGTAGTCCCAGTTACTCAGGAAGCTGAGTGAGGCAAGAGAATCGCTTGAACCCGGGAGGTGGAGGTTCTAGCGAGCCAAGATCACGCCACTGCACTCCAGCCTGGATGACACAGCGAGACTATCTCAAAAAAAACAACAACAACAACAAAAACAGCCCCACATGCCTGTGGAAGACTGCAAAGAAGAAACTTGAGGAACTTAAGAAGCTGAGACCAAGACCGAGATCAAGTCTAGGCGTCTGCAGAGCCTAGCTCAGCTCAGCTTTAAAGCAGAGGGCAGGTGTCCGGGGTGGGGCGTGGGGAAGGCTGGTCACTGGCGCCTCACCTTGATGGGGATGCAGGCGTGGTCCTCCTCCAGGTCCTTCAGGCAGATCTCCAGGTGCAGCTCGCCGGCGCCCGCGATGATATGCTCTCCCGACTCCTCGATGATGCACTGAAAGGGATGCGGGTCAGCACCAAAGGGGTAGGCGGCTCGGAACAGGCGGGACCAGGCTCCCAGCTTCCCTTTAGCTAGGGACCCCGCCAGAACAAGATTTCAGGGAAGGTGCTGGGAAACTGGGACCAGCACAAACTCCTGAAGAAATGTTAAGTCCCACAAGCTACAGTGAACACGCGCAGAGCAGCCTAGGAGAGGGTGGTGGCTGCCTGGGCAGGAGTCTCCATTTACAGCCACAGCCAAGAACCCCTCCTTTCATGACCAGTCACCCCAATCCACCAACCACAGCAACCCACACAGCCACAACTCAGGACACAAGCCGTCCCCCCTCAGGGTGTCTGCTCCCAGCAGGTGCACTCCGTGCCCACCTGCACCATGGGGTCGGACTTGGCCAGCCGCTTCAGCCCCTCCACCAGCTTGGGCAGGTCAGCCGGGTTCTTGGCCTCCACGGCCACTCTGACAACAGGGCTGACGCTGAACTTCATCACCCGCATGTTGTGCGCGTGCTCGAAGGTGGTGATGGTGCCCGTCTTCACCAGGAACTGGTCCACGCCCACGAGGCCCACAATGTTCCCACAAGGCACATCCTCGATGGGCTCCACGTAGCGGCCCATCATCAAGATTGTTCTGGAAGAAGCAGAAGGCGGCAGCAGGCCGCAGGGATGGTTGTGCTGGACCCTGGAGGGCCAGGGCAGGTCCCTCCCGGA
CAGAGTCACCACCTTATCAAATTTATTATTCCAATGGCACTAGTACAGCTGGAGGTGCTCATGGTGACACCGCACAGGACTTCCTGCCTGCTAGAAATCATCTACCCGCGTGTTCCTTTCCCCTTTCTGGGGCAAAAGCCACTGCGGGCCATGTACCCAAATAAACCTCTTAATGCGTTTGTTAAAATTAGTTTGGACATCTGAGTTTCCCTCTGAAGAAATGGAAAAAGTGTTGGGTGTCCCATCCCGCCTCCCCCTCCCCGACCGGCCCATTAAGTCCCTACTAAGAGGGCGTGTCTGCTGCCTCCGGACTCTGGAAATAAATATTGAAAGAAACGGCATCAAGTGTTATGGTTGAGTGATGGCACGCAGCGGGCCCCAGAAACCTCTCAGGGGAGCGTCGCTGTGTCGGGACAGTCTCCAGGTGTCGTCTGAGAATTCGAGGACGTGGTGCTGTGGGTGCTGCGAGTCCCCGGGGCGGCAGGCGCTGCAGGAAGGGCCGCCTACAATTTGTCCAGGAAGTTGTCCAGGGCAGGGATGCCTTCTTTCAGGCCCTTGCGCTTGCGGGTCTCCGCCACCACCTGGCTGGGGCGGCTGCTGTTGTCGAAGGGGTCTCCGGGCAGGATCTGCCAGTGGTCAAACACACACTGGGGGAACGCCTGGCCGCCCGTGTTGGACCTCAGGTCAGCGGTGAAGCCTGCAGAGGGAAGCGAGAGGCTCACTGGGCCATCGAGAAGGTGGCAGGGCAGAAGGAAAGTCCTGTCAGGAGCTCAGGCTAGTTCCTCAGCCTGAGTCACCCTGCAGACCAGACACTCGGCCTGGTGCCCAGCACTTCACGAAGGGCCTAGCAGGCCACTCATGGGCCTCATGCCGCTGCTCGTTTGGGACAACCCTGTGCTACAGCTCGGCTGCTCTACCGGCCCAGGGCGTAGGCCTTCAGAGCTCCAGGCCCAGAGCCCTTCTCACACTGGGGATAGGAGAGCCCCTCCCCTGGGAATTCAGTGATTTAGGGGGTCCACAAGCTGTCAGAAACTGGACCACCTGCTCCATCCATCACCTGCTCCCATCAGGACGCCTCCTTTAACACCTTGCTAAGCTTAACTGGGCTTCTGTCCCCCAAACCAGCCTGCCAGGCTCTGCAGGCCACACCGGGCAGGCACTCACCAAAGGACTCGTTGACGGGCAGATAGGCCTTGACCACAAACATGGGGGTGCCGGCCACCTGGGACTCCTCGAACACGTGGCCCCGCTTCCTGTTCAAAACCCCGTAGATGCCACCGACCACCTGCTCTGGACACTGCCAGAAGGGAAAGAAAACCTGTCAGTGGCCGCTGGGCAGGACGGTGGCAGGGTCAGCGGTGGGCGGGTAGACCTCACCTGGATCTCCACAAGGTAGATGGGCTCCATGAGGCGTGGCTGGGCGGTCAGCACACTGGCATAGAGGCAGCGCCGTGCTGTGGGGATGATCTGGCCCCCTCCGCGGTGGATGGCGTCGGCGTGCAGGGTGACGTCGTGGACGTCGAAGCGCACACCCCGCATGTTCTCCTCACACAGTGCGCCCTGGGGGAGGGGGAGAGCCACCGTCAAGGGCCGGACACACCTCGGCTGCTTGCCCTCCACCTGCCAAGTCCTGCAGGTCTCCACCAGGGGGACCTGGGGCCTTGCCCGCCTTGGCCCCATTAGGGTCTCTGTCTCGGGAGGCAGGACCATGAGGTCCCTCTAGAGCCTGGAAACGGGTGTGGTCTGCACATGCTGAGCCGTGCCTCACCTCCTTGGTGGCCCACTGGAAGCCGGCCACCACACTGTCCTTGATCTCGTTGAGGTACTGCACACCCTTGGTGATGTCGGTGAGGATGTTGGGGCCGGTGCCGTCGGGCCCAAAGCACCAGATCTTGCGGGCCTCAGCCACGTCCCACTCGTACTTCTCGGCCAGGTAGCGCGCCCGCTGCTTGAGCTCCTGACGGGCGGACACCTCGCCTTTATCGATGTCCTCGGCCAGGCCGTCGGGGAAGGGCCGCGCCTTCATGTACAGCCGGTTGTGCTTGTTGTGGGACTTGGAGAGGCAGAGCACGTTCGACTCTTCACTGACCGTCTCGCGGTACGAGACGACCGGGTCAGATTTCTGCAAAAAGAGGTTAAGTCCCACTCTTGCCTGGAGAAAGAGGTGACCTTACACACAGACGCATCCTTAAAAGCTTTTCCTAGCAAGGCGGACCTCATACAGCCTGGTAGAGCCACGTCAATCAGAACGAAGCGGAGTCAGTGTTGCAGTGCCAAGCGCATCTCACTCCAGACAAGGACAAGGAGCAGGGGCTCCACTGAGCTCTCCGGCGCAGAAACCACGGGCTTGTGGAATTTTAAGCATTAACAGGGAAGAAACGAGGTCTGGAGCAGGCCTGTCCCAACCCCTCCAGAGCATTTGTGTTGTTTGTGGACAGAAGACAGCAGGATGTAACTCAAAAACTGCCCCGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCCAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCATGATGGCAGGCGCCTGAAGTCCCAGCTACAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAAGCAGAGCTTGCAGTGAGCCAAGATCACGCCATTGCACTCCAGCCTAAGCAACAGAGCAAGACTCTTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAATAGCCCTGGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGGGGATCACGAGGTCAGGAGATCGAGACCATCTTGACTTACTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTAGCACGCGCCTGTAGTCCCAGTTACTCAGGAAGCTGAGTGAGGCAAGAGAATCGCTTGAACCCGGGAGGTGGAGGTTCTAGCGAGCCAAGATCACGCCACTGCACTCCAGCCTGGATGACACAGCGAGACTATCTCAAAAAAAACAACAACAACAACAAAAACAGCCCCACATGCCTGTGGAAGACTGCAAAGAAGAAACTTGAGGAACTTAAGAAGCTGAGACCAAGACCGAGATCAAGTCTAGGCGTCTGCAGAGCCTAGCTCAGCTCAGCTTTAAAGCAGAGGGCAGGTGTCCGGGGTGGGGCGTGGGGAAGGCTGGTCACTGGCGCCTCACCTTGATGGGGATGCAGGCGTGGTCCTCCTCCAGGTCCTTCAGGCAGATCTCCAGGTGCAGCTCGCCGGCGCCCGCGATGATATGCTCTCCCGACTCCTCGATGATGCACTGAAAGGGATGCGGGTCAGCACCAAAGGGGTAGGCGGCTCGGAACAGGCGGGACCAGGCTCCCAGCTTCCCTTTAGCTAGGGACCCCGCCAGAACAAGATTTCAGGGAAGGTGCTGGGAAACTGGGACCAGCACAAACTCCTGAAGAAATGTTAAGTCCCACAAGCTACAGTGAACACGCGCAGAGCAGCCTAGGAGAGGGTGGTGGCTGCCTGGGCAGGAGTCTCCATTTACAGCCACAGCCAAGAACCCCTCCTTTCATGACCAGTCACCCCAATCCACCAACCACAGCAACCCACACAGCCACAACTCAGGACACAAGCCGTCCCCCCTCAGGGTGTCTGCTCCCAGCAGGTGCACTCCGTGCCCACCTGCACCATGGGGTCGGACTTGGCCAGCCGCTTCAGCCCCTCCACCAGCTTGGGCAGGTCAGCCGGGTTCTTGGCCTCCACGGCCACTCTGACAACAGGGCTGACGCTGAACTTCATCACCCGCATGTTGTGCGCGTGCTCGAAGGTGGTGATGGTGCCCGTCTTCACCAGGAACTGGTCCACGCCCACGAGGCCCACAATGTTCCCACAAGGCACATCCTCGATGGGCTCCACGTAGCGGCCCATCATCAAGATTGTTCTGGAAGAAGCAGAAGGCGGCAGCAGGCCGCAGGGATGGTTGTGCTGGACCCTGGAGGGCCAGGGCAGGTCCCTCCCGGA
Task1_train_26316
Mutation context: Chromosome 19, Gene ZBTB7A (zinc finger and BTB domain containing 7A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
GACCCCGTGGACAGAAGCGGGCGCTAAGACCTCTTCACGTCAGAACCAAAAAAGGGGACAGAAAGGGGGAGCGGGGGGAACACAGCACGAACACCCCACAGTCCTGCCTTCGAGGCTGACGTCTGGGGGTGAAGCACAAACACCTCGGGGCGTCTCCCAGGTCCCCTGCGATGGCTTCCTCCTGAACCCCCCTTCTCGCTTTTTGGGGAACAGAAGTGGATTCTACGTTTGTGGTGGGTTTTTTTTTTTATTATTTTGTACAAAAATAAATCGACTTTTAGGAATTTCTTCTGCTCTCGCTCTCTCTCTCGCTCTCTCTCTCGCTCGCTTTTTTTTTTTTTTTTTGTCTTTTCAACTTTTCATAGAAGTTGGTTGTAACTTGTAAACATGTTTTTAAATTAAGAATTAAGATAAAGTGTAGTACCCGTTCCGTTACAAAGTGCCAAGACTTCTAATGTGGTTGGTTGCCTTTTTTTTTTTCCTTCCTTTCATTTTGTAAAACCTTTTTTTTTTCTAGTTTGTTTTATTGCTTTTGTGACATTGGAATTTGTGGATTTTCTCTCTCTCCCCCCATCCCTGCCATCACCAGACCCTGGGGTTCCTCTGATCGTGACTCTGTTTATCCCACACTGTTGCCTGCTCCTCTGAGGAAAAGTATATTATTTATATATATATATATATCTATATATAAATTTTGTTTTTAAGGAGGAAAGAGAAAAAAAAATCTAAAAAGTGCTTTAAAAATTTGGGAGAGGGGGCTCGGGGGAGAGGACGAAGACAGAAGTTTTGAATCTCCAAACGTGGGGGTCTAGGTGGACCGGGCGGGGGTGGGGGGGCGCCCTGAGGGGTGGTCCCTGGGGGTCCCGCCGGTTGTAAGTGCCGTGAAGGAAGGCGGCAGGAGCACCCCCAGGAGCCATCCTGGCGCCCCACCGGGAACCCCAGTCCGATCTCCTTTCTCCAGGCCTAGAAATAAATAGGTTTGTGTCTCAGTGGCCAGGAGACGTGGGGTGGGCGACGGGGGGAGGCCGCAGGCAGGGTTGGAGGCGGGGAGGCCACTGGGGAGATGGAGAGGGAGACCCCTCCCTTAGTAAGTGCCCTGAGGAAGGAGGGTGCGGGTCGGGGGACGGGGGCCCATTTTAACGTCCGCTCAGAGCAGACAGAAATCATTTAAGGTCTTGTCTGAAAGACTCATAGAAACCAGCGAGGGGAGGAAATTAAAAGCCCACCCCAGTCCCCCCCCAGCGCCCCCACGTCTACCCTCCCCCCAGCCCAGGGCCTCGGATCGGGCCCCAGGCCCCATGCCGGGTGCCCAGGGGGCTGTGCGGGGTCTCGGATTCCTTGTGTCCTACAAAAAACCCCAAACCAAGCCCCGAAACCCAGCGATGGGGTGGTGGGGGGAAGGGGAGCCAGGGAGGGCCGGGGCCCCTGCGGAGGGAGAAAAACGTCAGAAAGGAGGGAAATCTGAGAAAGCGCTACCCTAGATTCTGTGACGCGTCATATATATATATCTGTATATATATATATAGATATAGATATCTGTATATAGATAGATTTTCTTTTTTTGTGTTTTTGGGGGGGTGGTGGGTGATTTTTTTTCTCTCTCTCTGTCTCTCTCTTTCTCGGGTTTCTGTTTTCTCTTTTTGGTTTTTAGGCGAGTCCGGCTGTGAAGTTACCGTCGGTGGCGGCCCCGGGGCCACCTCCGCTGTCACCTCCTCCACCGGCGCCCGCTACATTCAACCGGCCCAAGCCGTCGGGGCTGGCCACGTCCTCGTCCTCGTCCTCGTCCTTAAAGTGCTTCTCCTGGCCGTTGCGCCGGGCGTCGGGGGAGCTGGGCTGGGCGGGGGCGCCGGGGGTCGCGGTGGCCCCCGGGCTGGGGTCGGGCGCCCCGCCCCGGACGCGGGGCTTGCGGCCGCGGCGCGAGGGGACGCCGTTGCAGCCGTCTTTCTTGAGGTGTCTGTGCAGGTGGTCGGAGCGGACGAAGGTCTTGCAGCAGCTGTCGCACTGGTAGGGGCGCAGGCCCGTGTGCACGCGCATGTGGTTCTTCAGGTCGTAGTTGTGGGCAAAGGCGGCGCCGCACTGCTGGCACAGGTACGGCTTCTCGCCCGTGTGCTTCCGCATGTGCACCTTCAGCTTGTCCTGCCTGTGGACGGGGCACGGGGCGGGCACGGTCAGTGGGGCCGGGGACCCCCGATCCCCGCCCAGGGACCCTCACGGACACGGCAGGCCCTGGATCATCACCCTTGCAGAACACGGACCGTGCACCAGAGGTTTCGGTGCCCCGATGGGGACGGTCCCTCGAAAAACGAGACGAGTGGGGGCGATTTCGCATTCTGAACATCTAAAGAGGGCCTCGGACCCTGAGTGCTGTGTGGCCTTGGGAAAACGCTATGCCTCTCTGAACCCCGTTTCCTTTCCTTTTTTAACTTTTTAAGAGACAAAGTCTAGGCCAGGCGCGGAGGCTCAGGCCTGAAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGATCGACACGGTGAAACCCTGTCTCTACTAAAAAAACAAAAAACAAAAAAACAAAAAACAAAAATCAGCCGGGCATGGTAGCAGGCGCCCGTAATGCCAGCTATTAGGAAGGCTGAGGCAGGAGGATCACTTGTATCTGGGAGGTGGAGGTTGCAGTGAAACTCCGTCTCAAAAAAAAAAATTTCACTTTTTAAGAGCGAAACTCCGTCTCAAAAAACAAATCTGCCAGGCGTGGTGGCGCAGGCCTATAATCCCAGCTACTTGGGAGGTGGAGGTTGCAGTGAGCCCAGATCACGCCACTGCCCTCCAACCTCGGTGACAGAATGAGACTGTCTCCAAAAAAAAAAAAAAAGAGAGGCAGGGTCTGGCTTTGTCCCCCAGGCTGGAGGGCAGTGGCGTGATCACGGTTCCCTGCAGCCTCGAACTCCTGGGCTCAAGCCATCGTCCTGCCTCATCCTCCAGAGTAGCACACGCACCACCACACCCTATTAAATAGCTATTAAACTATATGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATATATATATATATATGTAAGTTTGAGAGATGGGGGTTGAGCTACGTTACCCAGGCTAATCTCAAACTCCTGGGCTCAAGTGATCCTCTTGCCTCGGCCTCTCAAAGCTCTAGGATTACAGGTGTGAGCCACTGCGCCCGCCATGAACCCCTTTCCCTACCACAGAAGGAGACAGTGGGCTTCTGCCACTCCATCCTGCCCCTACCCCTGGGGTAGGATGAGGCCAGCCAGTGCCTGGTGCCTTCATTCATGCCACAGACCTTTGCCGAGCGCCCGCTGAGGGCCAGGCCCTGTTCCAGGTGCTGAAAATACCGCAAGGAACAAGACAGGCAAACATCCCTGCCCTCTCGAGGCTGGCGGCGGCCGAGGTGTTTGGTGACAGATAGGGTGACCAACTGTTCTGGTTTTAGCACTGAAAGTCCTGCATCCTGGGAAACCCCTCTGTCCGGGACAAAGTGGGGCAGTTGGTCACCCTAGTAACCAAGTCCCCACCCCACGACACCCAGGACTGCCCACTCTCCCCTCACTTCAGCGTCACTCCCCTATCTGGGCTCCACCCTGACGTGCAAAGGTGCAAAGCACAAGCTACGCTGGGGCCTTTGCATGTGCTGCTCCCGCAGTCCGGGGTACTTTCTTTTTTCCTCCTGGATCTTCACAGTCAAATTTGGGCTCAAATGTCACCTCCTTCCCCAGCCCTGTCTCCATCCTCCTGTCATCACCACCTGACTCTTCTATTGTTTTTTTTTCTGAGACCGAGTCTCGCTCTATCTTCCAGGCTTGAGCGCAGTGGTGTGGTCTCCGCTCACTGCAACTTCCGTCTCCCGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCCCTCTGCCACCACACCTGGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCCAAACGCTGGGATTAC
GACCCCGTGGACAGAAGCGGGCGCTAAGACCTCTTCACGTCAGAACCAAAAAAGGGGACAGAAAGGGGGAGCGGGGGGAACACAGCACGAACACCCCACAGTCCTGCCTTCGAGGCTGACGTCTGGGGGTGAAGCACAAACACCTCGGGGCGTCTCCCAGGTCCCCTGCGATGGCTTCCTCCTGAACCCCCCTTCTCGCTTTTTGGGGAACAGAAGTGGATTCTACGTTTGTGGTGGGTTTTTTTTTTTATTATTTTGTACAAAAATAAATCGACTTTTAGGAATTTCTTCTGCTCTCGCTCTCTCTCTCGCTCTCTCTCTCGCTCGCTTTTTTTTTTTTTTTTTGTCTTTTCAACTTTTCATAGAAGTTGGTTGTAACTTGTAAACATGTTTTTAAATTAAGAATTAAGATAAAGTGTAGTACCCGTTCCGTTACAAAGTGCCAAGACTTCTAATGTGGTTGGTTGCCTTTTTTTTTTTCCTTCCTTTCATTTTGTAAAACCTTTTTTTTTTCTAGTTTGTTTTATTGCTTTTGTGACATTGGAATTTGTGGATTTTCTCTCTCTCCCCCCATCCCTGCCATCACCAGACCCTGGGGTTCCTCTGATCGTGACTCTGTTTATCCCACACTGTTGCCTGCTCCTCTGAGGAAAAGTATATTATTTATATATATATATATATCTATATATAAATTTTGTTTTTAAGGAGGAAAGAGAAAAAAAAATCTAAAAAGTGCTTTAAAAATTTGGGAGAGGGGGCTCGGGGGAGAGGACGAAGACAGAAGTTTTGAATCTCCAAACGTGGGGGTCTAGGTGGACCGGGCGGGGGTGGGGGGGCGCCCTGAGGGGTGGTCCCTGGGGGTCCCGCCGGTTGTAAGTGCCGTGAAGGAAGGCGGCAGGAGCACCCCCAGGAGCCATCCTGGCGCCCCACCGGGAACCCCAGTCCGATCTCCTTTCTCCAGGCCTAGAAATAAATAGGTTTGTGTCTCAGTGGCCAGGAGACGTGGGGTGGGCGACGGGGGGAGGCCGCAGGCAGGGTTGGAGGCGGGGAGGCCACTGGGGAGATGGAGAGGGAGACCCCTCCCTTAGTAAGTGCCCTGAGGAAGGAGGGTGCGGGTCGGGGGACGGGGGCCCATTTTAACGTCCGCTCAGAGCAGACAGAAATCATTTAAGGTCTTGTCTGAAAGACTCATAGAAACCAGCGAGGGGAGGAAATTAAAAGCCCACCCCAGTCCCCCCCCAGCGCCCCCACGTCTACCCTCCCCCCAGCCCAGGGCCTCGGATCGGGCCCCAGGCCCCATGCCGGGTGCCCAGGGGGCTGTGCGGGGTCTCGGATTCCTTGTGTCCTACAAAAAACCCCAAACCAAGCCCCGAAACCCAGCGATGGGGTGGTGGGGGGAAGGGGAGCCAGGGAGGGCCGGGGCCCCTGCGGAGGGAGAAAAACGTCAGAAAGGAGGGAAATCTGAGAAAGCGCTACCCTAGATTCTGTGACGCGTCATATATATATATCTGTATATATATATATAGATATAGATATCTGTATATAGATAGATTTTCTTTTTTTGTGTTTTTGGGGGGGTGGTGGGTGATTTTTTTTCTCTCTCTCTGTCTCTCTCTTTCTCGGGTTTCTGTTTTCTCTTTTTGGTTTTTAGGCGAGTCCGGCTGTGAAGTTACCGTCGGTGGCGGCCCCGGGGCCACCTCCGCTGTCACCTCCTCCACCGGCGCCCGCTACATTCAACCGGCCCAAGCCGTCGGGGCTGGCCACGTCCTCGTCCTCGTCCTCGTCCTTAAAGTGCTTCTCCTGGCCGTTGCGCCGGGCGTCGGGGGAGCTGGGCTGGGCGGGGGCGCCGGGGGTCGCGGTGGCCCCCGGGCTGGGGTCGGGCGCCCCGCCCCGGACGCGGGGCTTGCGGCCGCGGCGCGAGGGGACGCCGTTGCAGCCGTCTTTCTTGAGGTGTCTGTGCAGGTGGTCGGAGCGGACGAAGGTCTTGCAGCAGCTGTCGCACTGGTAGGGGCGCAGGCCCGTGTGCACGCGCATGTGGTTCTTCAGGTTGTAGTTGTGGGCAAAGGCGGCGCCGCACTGCTGGCACAGGTACGGCTTCTCGCCCGTGTGCTTCCGCATGTGCACCTTCAGCTTGTCCTGCCTGTGGACGGGGCACGGGGCGGGCACGGTCAGTGGGGCCGGGGACCCCCGATCCCCGCCCAGGGACCCTCACGGACACGGCAGGCCCTGGATCATCACCCTTGCAGAACACGGACCGTGCACCAGAGGTTTCGGTGCCCCGATGGGGACGGTCCCTCGAAAAACGAGACGAGTGGGGGCGATTTCGCATTCTGAACATCTAAAGAGGGCCTCGGACCCTGAGTGCTGTGTGGCCTTGGGAAAACGCTATGCCTCTCTGAACCCCGTTTCCTTTCCTTTTTTAACTTTTTAAGAGACAAAGTCTAGGCCAGGCGCGGAGGCTCAGGCCTGAAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGATCGACACGGTGAAACCCTGTCTCTACTAAAAAAACAAAAAACAAAAAAACAAAAAACAAAAATCAGCCGGGCATGGTAGCAGGCGCCCGTAATGCCAGCTATTAGGAAGGCTGAGGCAGGAGGATCACTTGTATCTGGGAGGTGGAGGTTGCAGTGAAACTCCGTCTCAAAAAAAAAAATTTCACTTTTTAAGAGCGAAACTCCGTCTCAAAAAACAAATCTGCCAGGCGTGGTGGCGCAGGCCTATAATCCCAGCTACTTGGGAGGTGGAGGTTGCAGTGAGCCCAGATCACGCCACTGCCCTCCAACCTCGGTGACAGAATGAGACTGTCTCCAAAAAAAAAAAAAAAGAGAGGCAGGGTCTGGCTTTGTCCCCCAGGCTGGAGGGCAGTGGCGTGATCACGGTTCCCTGCAGCCTCGAACTCCTGGGCTCAAGCCATCGTCCTGCCTCATCCTCCAGAGTAGCACACGCACCACCACACCCTATTAAATAGCTATTAAACTATATGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATATATATATATATATGTAAGTTTGAGAGATGGGGGTTGAGCTACGTTACCCAGGCTAATCTCAAACTCCTGGGCTCAAGTGATCCTCTTGCCTCGGCCTCTCAAAGCTCTAGGATTACAGGTGTGAGCCACTGCGCCCGCCATGAACCCCTTTCCCTACCACAGAAGGAGACAGTGGGCTTCTGCCACTCCATCCTGCCCCTACCCCTGGGGTAGGATGAGGCCAGCCAGTGCCTGGTGCCTTCATTCATGCCACAGACCTTTGCCGAGCGCCCGCTGAGGGCCAGGCCCTGTTCCAGGTGCTGAAAATACCGCAAGGAACAAGACAGGCAAACATCCCTGCCCTCTCGAGGCTGGCGGCGGCCGAGGTGTTTGGTGACAGATAGGGTGACCAACTGTTCTGGTTTTAGCACTGAAAGTCCTGCATCCTGGGAAACCCCTCTGTCCGGGACAAAGTGGGGCAGTTGGTCACCCTAGTAACCAAGTCCCCACCCCACGACACCCAGGACTGCCCACTCTCCCCTCACTTCAGCGTCACTCCCCTATCTGGGCTCCACCCTGACGTGCAAAGGTGCAAAGCACAAGCTACGCTGGGGCCTTTGCATGTGCTGCTCCCGCAGTCCGGGGTACTTTCTTTTTTCCTCCTGGATCTTCACAGTCAAATTTGGGCTCAAATGTCACCTCCTTCCCCAGCCCTGTCTCCATCCTCCTGTCATCACCACCTGACTCTTCTATTGTTTTTTTTTCTGAGACCGAGTCTCGCTCTATCTTCCAGGCTTGAGCGCAGTGGTGTGGTCTCCGCTCACTGCAACTTCCGTCTCCCGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCCCTCTGCCACCACACCTGGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCGGACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCCAAACGCTGGGATTAC
Task1_train_26317
A variant was discovered on Chromosome 19, affecting ZBTB7A (zinc finger and BTB domain containing 7A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
AGAGCACGGGGTGGGGGAAAAGAGGAAGCAGGTGGGTCTAAATTGGGGTGGGAGGAAGAGGTCTCCACAATTGTCCCTCTCTAAGCCTCAGTTTCTCTGACTGAGGGGATCAGCCCCGGGTCGGGTGGGATAGCCAGCAGTGCCCGAGTCAGAATGAAACCGGGCCTGTGGCCTGCGGCCAGGGAGGCAGGGTGGGGGTCACCACCTTCGCTCAGCCTGGTCCCCTCTGCAGACCCCAGTTCTCTGCACCCCACCAAGCTGCTCTTCCTGAGCTCAGAGACGAACCCACAGTGACCCCTGCCTGGAGGAAGAGGAGCCCCCCAAGACCTCCAGTACCCCAACCTCACCAAGGAGGGACAAACCACCAGCTACACTGCCTGCCTCCCAAAGTGCCCTTTGCCCCCTGCCTGGCACTCCTGGGCGCCGGAGTCCAGGCCGCACCTTCCTCTCCTGGCCTGCTGGGGAGGGGGCCGGGGTGCTGGGGAGGGGTCAGTCCCAGTTCCTGTCCCCACGGGGTGGGGTTGGGAAGCTGGGACAATGGCCTCTTTCTTCAGCCTCGGTGGGCGTGGCTGGGGGAACCCCAGGGCGGGCGGGGGGCAGGGGGTGGTGCTGAGTCACCCAGCCTGGCCAGGTCCCTGCCTGCCAGCCCCCTGCCCCCACCGCTACAGCCCGCCCCGGATCTACGAGGCCCAGCCAGCCACCTCTGGACTCCTGAGACCGAATTGCAAACTGCCCGGGCCTGGCCTTGAACTCCTGCTGTTTAGGGACCAAGTCCTGTGGCTCCCAGGGGGGCACAGTGATCTCTCAAGCTGAGCTGGCCTCAGGGCCTCTGCACTGGCTGTTCCCTCTGCCTGGAACGCCCTTTCCCACAGCTGCTCCTCCCCTCCTTCAGGTTCCGGCAAGGCCTGTCCCCGGCGCCTAGAACAGGCCTGGCACCAGCAGACGCTTCATAAATGTTGGCTGATTGAAGCAAATGACCCAGGCTCACGGGAAACTCAGAAGCCGCTCCACGGCCTGGGCTGTCCCTCCCTAAGCCTGAGGGCCTGTCACCCTCTCCCAAAGCAGAAAAAGAAAAAAATCCAAAAGTGCAGAAGAGAAGAACCAGCCCTCCAGGAAGGAAGAACGACTGTGCCTTCCCGCCCACCTCCCGCAGCTCAACCCTGTCCGGCACGCTTTGCATATGATGTGGCTGTCATCTTATGTCTGGCCTGTGCTGTCACCCACCGGGATGTCCACCCACAAGGGCAGGGCCTGGTCTAGGCTGTTCTTAACAGCCACGTGGGTCAGGGAAGCGTTCGTTGGCTTTGGGCCCAAGAGGTGGGGTGTGTCTGTTTGCGTGTGTGTGCATATATGTGTGTCTGTGGGTGCATGTTTGCATGCATGTGCATGTATGTGTGCGCATGTACGTGTCTGTGTGCATGTGCCTGCATGCATGTCTGGGGGTGCGTGTGCATCTGTGTGCGTGCCTGGGTGTGCGTGTGTGCGTGCGTGCGTGCGTGCATGTGTATGTGATGTGTATGTGGTGTGCGTGTGTGTGCGCGCATGTCGGTGTGCGTGTGTGTGCGTGCATGTGTATGTGATGTGTATGTGGTGTGCATCTGTGTCTGCATGTGTCTGTGTAGCATGTCTGTATGTGTATGTGGTGTGCGTGTGCGTGTGTGCGTCTGTGTGTGTGCATGTGTACGTGGCATACGCGTCTGTGCATGTGTGTGCATGTGCGTATATATGTGCAAGTGCGTGTATGTGTGTCTGCGTGTGTGTGGATGTGTAGGTGACGTGCATGTGTCTGTGCGTGTACGTGTCTGTGTGCACGTGCGTGTATGTGTGCGTCTGCGTGCATGTGTGCGTGCGGTGCAGGGAGAGAGGCGGGAGGGGTCGTGAGCGGCGGATGCTGGGGCAGAGAGCAGGACGGCGCCTCCCCCGCGGCGGGCAGCTCACCTGGTGAAGCGGACCTTGCAGATGTTGCACTCGTAGGGCTTCTCGCCCGTGTGGGTGCGGATGTGTCGCGGCAGCTTGCCGGCGCCCTGGATGACCTTCTCGCAGATGGGGCACTTCTGGAAGGCCTTGGCTCGGATCTTCTTCTCCACCTTCTGCGACCAGGCCGGGTAGACGTCGCCGTCGTGGGCGCCGCTGAAGTACTTCAGGTAGTAGTCCATGACGCCCTTGTCGTCGGCCCGCGACTCCTCGTCGCTGTCCCCCGCCGCGGCCCCCGCCCGGCCCACCGATGACATCATCTGCTGCAGCAGCGTGCTGGCCGCCAGCCCGTCCACGTCGGGCCCGTCCCCGTCCTCGCCCTCGGCCGCTCCCGACAGGAAGCCCGGAGAGTCGCCCGGCTCGGGGGCCGCCTCCGACAGCGAGGCGGCCTCCTCCTCTCCGCCGCGGCCGTAGTGGCCGTTCTGCGTGGCGGCCGGCGGGGCCACCGGCGGCGGAAAGAGACCCCCGGTGGGGGCGTCCTCATCCCGCTCTGGCCACAGACCCGGGTTGCTGTCGCCCTCGTCCCCGTCCCCCGTCGGGGGCCGCTCGGCCGGGGGGCCCGGCCCATAGAAGTCTAAGCCGTTGCAGTCGCCCGCGGCCACGGCGGCCACAGCGGCGGCCACGGCCTCCTTGGTGGCATCCAGGTCATCATCGGACGCCCCAAAGGCGGACCACGGGAAGCTGGCAGCGGCGGCGGCGGCCGCGGGGGGCAGGCTGTTCATGGGGTTGCTCTGGAAGAACTCGAGGTACTCCTTGGCGCGGAGGAGGTTGCGCTGATCAATTTGATCTACAAGGTCCAGCTGCCCGGCGTCGGCGCCCGCGTCGGCCGCCAGGATCTGCCGGTCCAGGAGGTCGGCGCACACGTGGCTCACGGCGGGGATCTCCAGCAGGCGGGCGGCGCTGAGGATGTCACCCACGTTGGCTGTGCTGACGGTGAGCGTGGCCGTGTAGGCGAAGTCCATGAGCGCGGTGAGCGCCTCGGCGCTGACGAAGTCGATCTCGTACACGTTCTGCTGGTCCACCACGGCGCCCGACGTGAACAGCTTCTTGAAGTACTGGCTGCAGGCGGCCAGCACCGAGCGGTGCGTGGGGAACTCGCGGCCCTCCACCAGGATCACCACGTCGCACAGCAGGCCCTGCGTCCGCTGCTCGTTCAGCCCACTCAGGATGTCGCTGCTGTGGTCGGGGAACGGGATCCCGATGGGGCCGTCCACGCCGCCGGCCATCTTCCGCGCCGAGACCTGCAGCAGTGGGGAAGGAGAGGGCGCTCGTGAGTGGGGGTGCGGGGGTTCCTGTGCCCACTGACAAGGGCCCGAGGCCCTTGAGAAGCAGCGTTCCACCCTGCTCCCCCAGCCTCACATTCCCACCTGCACGTGAAGGCGGTCAGATGTCGCGCCTTTCCAGCCCCAGCTTCCCCAGCTGTGCACCAAAGCGATACATGCCCTGCCTCCAGCCTCTTTTCTTTTTTGTGTGTCTTTAATACAGAGACAGGCTATCACCATGTTGGCCAGGCTGGTCTCAAACCCCTGGCCTCGGCCTGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACAGGCAGATCATGAGGTCAGGGGATGGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGTTGGCGGGGGCCTGTAGTTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAACAAAACAAATCAAAAAACCCTGGCCTCAAATGATCCAACCGCCCCTGCCTCCCAAGGTGCTAAGATTACAGGCATGAACCACGGCACCCGGCCAAGACTGTTTTCCATCTGTGCATGAGGATAGCCAGATGTCCCGGCTCCCCAGCCTCAGTTTCCCCAGCTGTTCCCAAGTGCAGTCAAATGTCCTATCCTCTAGCCTCAGTTTCCCCAGCTGTGCATGAGAATGGTCAGATGTCCTGCCTCCCCCAGCCTGTTTCCCCAGCTGTACACAAAAGCAATCAGACGTCATGTCCCCAGCC
AGAGCACGGGGTGGGGGAAAAGAGGAAGCAGGTGGGTCTAAATTGGGGTGGGAGGAAGAGGTCTCCACAATTGTCCCTCTCTAAGCCTCAGTTTCTCTGACTGAGGGGATCAGCCCCGGGTCGGGTGGGATAGCCAGCAGTGCCCGAGTCAGAATGAAACCGGGCCTGTGGCCTGCGGCCAGGGAGGCAGGGTGGGGGTCACCACCTTCGCTCAGCCTGGTCCCCTCTGCAGACCCCAGTTCTCTGCACCCCACCAAGCTGCTCTTCCTGAGCTCAGAGACGAACCCACAGTGACCCCTGCCTGGAGGAAGAGGAGCCCCCCAAGACCTCCAGTACCCCAACCTCACCAAGGAGGGACAAACCACCAGCTACACTGCCTGCCTCCCAAAGTGCCCTTTGCCCCCTGCCTGGCACTCCTGGGCGCCGGAGTCCAGGCCGCACCTTCCTCTCCTGGCCTGCTGGGGAGGGGGCCGGGGTGCTGGGGAGGGGTCAGTCCCAGTTCCTGTCCCCACGGGGTGGGGTTGGGAAGCTGGGACAATGGCCTCTTTCTTCAGCCTCGGTGGGCGTGGCTGGGGGAACCCCAGGGCGGGCGGGGGGCAGGGGGTGGTGCTGAGTCACCCAGCCTGGCCAGGTCCCTGCCTGCCAGCCCCCTGCCCCCACCGCTACAGCCCGCCCCGGATCTACGAGGCCCAGCCAGCCACCTCTGGACTCCTGAGACCGAATTGCAAACTGCCCGGGCCTGGCCTTGAACTCCTGCTGTTTAGGGACCAAGTCCTGTGGCTCCCAGGGGGGCACAGTGATCTCTCAAGCTGAGCTGGCCTCAGGGCCTCTGCACTGGCTGTTCCCTCTGCCTGGAACGCCCTTTCCCACAGCTGCTCCTCCCCTCCTTCAGGTTCCGGCAAGGCCTGTCCCCGGCGCCTAGAACAGGCCTGGCACCAGCAGACGCTTCATAAATGTTGGCTGATTGAAGCAAATGACCCAGGCTCACGGGAAACTCAGAAGCCGCTCCACGGCCTGGGCTGTCCCTCCCTAAGCCTGAGGGCCTGTCACCCTCTCCCAAAGCAGAAAAAGAAAAAAATCCAAAAGTGCAGAAGAGAAGAACCAGCCCTCCAGGAAGGAAGAACGACTGTGCCTTCCCGCCCACCTCCCGCAGCTCAACCCTGTCCGGCACGCTTTGCATATGATGTGGCTGTCATCTTATGTCTGGCCTGTGCTGTCACCCACCGGGATGTCCACCCACAAGGGCAGGGCCTGGTCTAGGCTGTTCTTAACAGCCACGTGGGTCAGGGAAGCGTTCGTTGGCTTTGGGCCCAAGAGGTGGGGTGTGTCTGTTTGCGTGTGTGTGCATATATGTGTGTCTGTGGGTGCATGTTTGCATGCATGTGCATGTATGTGTGCGCATGTACGTGTCTGTGTGCATGTGCCTGCATGCATGTCTGGGGGTGCGTGTGCATCTGTGTGCGTGCCTGGGTGTGCGTGTGTGCGTGCGTGCGTGCGTGCATGTGTATGTGATGTGTATGTGGTGTGCGTGTGTGTGCGCGCATGTCGGTGTGCGTGTGTGTGCGTGCATGTGTATGTGATGTGTATGTGGTGTGCATCTGTGTCTGCATGTGTCTGTGTAGCATGTCTGTATGTGTATGTGGTGTGCGTGTGCGTGTGTGCGTCTGTGTGTGTGCATGTGTACGTGGCATACGCGTCTGTGCATGTGTGTGCATGTGCGTATATATGTGCAAGTGCGTGTATGTGTGTCTGCGTGTGTGTGGATGTGTAGGTGACGTGCATGTGTCTGTGCGTGTACGTGTCTGTGTGCACGTGCGTGTATGTGTGCGTCTGCGTGCATGTGTGCGTGCGGTGCAGGGAGAGAGGCGGGAGGGGTCGTGAGCGGCGGATGCTGGGGCAGAGAGCAGGACGGCGCCTCCCCCGCGGCGGGCAGCTCACCTGGTGAAGCGGACCTTGCAGATGTTGCACTCGTAGGGCTTCTCGCCCGTGTGGGTGCGGATGTGTCGCGGCAGCTTGCCGGCGCCCTGGATGACCTTCTCGCAGATGGGCCACTTCTGGAAGGCCTTGGCTCGGATCTTCTTCTCCACCTTCTGCGACCAGGCCGGGTAGACGTCGCCGTCGTGGGCGCCGCTGAAGTACTTCAGGTAGTAGTCCATGACGCCCTTGTCGTCGGCCCGCGACTCCTCGTCGCTGTCCCCCGCCGCGGCCCCCGCCCGGCCCACCGATGACATCATCTGCTGCAGCAGCGTGCTGGCCGCCAGCCCGTCCACGTCGGGCCCGTCCCCGTCCTCGCCCTCGGCCGCTCCCGACAGGAAGCCCGGAGAGTCGCCCGGCTCGGGGGCCGCCTCCGACAGCGAGGCGGCCTCCTCCTCTCCGCCGCGGCCGTAGTGGCCGTTCTGCGTGGCGGCCGGCGGGGCCACCGGCGGCGGAAAGAGACCCCCGGTGGGGGCGTCCTCATCCCGCTCTGGCCACAGACCCGGGTTGCTGTCGCCCTCGTCCCCGTCCCCCGTCGGGGGCCGCTCGGCCGGGGGGCCCGGCCCATAGAAGTCTAAGCCGTTGCAGTCGCCCGCGGCCACGGCGGCCACAGCGGCGGCCACGGCCTCCTTGGTGGCATCCAGGTCATCATCGGACGCCCCAAAGGCGGACCACGGGAAGCTGGCAGCGGCGGCGGCGGCCGCGGGGGGCAGGCTGTTCATGGGGTTGCTCTGGAAGAACTCGAGGTACTCCTTGGCGCGGAGGAGGTTGCGCTGATCAATTTGATCTACAAGGTCCAGCTGCCCGGCGTCGGCGCCCGCGTCGGCCGCCAGGATCTGCCGGTCCAGGAGGTCGGCGCACACGTGGCTCACGGCGGGGATCTCCAGCAGGCGGGCGGCGCTGAGGATGTCACCCACGTTGGCTGTGCTGACGGTGAGCGTGGCCGTGTAGGCGAAGTCCATGAGCGCGGTGAGCGCCTCGGCGCTGACGAAGTCGATCTCGTACACGTTCTGCTGGTCCACCACGGCGCCCGACGTGAACAGCTTCTTGAAGTACTGGCTGCAGGCGGCCAGCACCGAGCGGTGCGTGGGGAACTCGCGGCCCTCCACCAGGATCACCACGTCGCACAGCAGGCCCTGCGTCCGCTGCTCGTTCAGCCCACTCAGGATGTCGCTGCTGTGGTCGGGGAACGGGATCCCGATGGGGCCGTCCACGCCGCCGGCCATCTTCCGCGCCGAGACCTGCAGCAGTGGGGAAGGAGAGGGCGCTCGTGAGTGGGGGTGCGGGGGTTCCTGTGCCCACTGACAAGGGCCCGAGGCCCTTGAGAAGCAGCGTTCCACCCTGCTCCCCCAGCCTCACATTCCCACCTGCACGTGAAGGCGGTCAGATGTCGCGCCTTTCCAGCCCCAGCTTCCCCAGCTGTGCACCAAAGCGATACATGCCCTGCCTCCAGCCTCTTTTCTTTTTTGTGTGTCTTTAATACAGAGACAGGCTATCACCATGTTGGCCAGGCTGGTCTCAAACCCCTGGCCTCGGCCTGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACAGGCAGATCATGAGGTCAGGGGATGGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGTTGGCGGGGGCCTGTAGTTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAACAAAACAAATCAAAAAACCCTGGCCTCAAATGATCCAACCGCCCCTGCCTCCCAAGGTGCTAAGATTACAGGCATGAACCACGGCACCCGGCCAAGACTGTTTTCCATCTGTGCATGAGGATAGCCAGATGTCCCGGCTCCCCAGCCTCAGTTTCCCCAGCTGTTCCCAAGTGCAGTCAAATGTCCTATCCTCTAGCCTCAGTTTCCCCAGCTGTGCATGAGAATGGTCAGATGTCCTGCCTCCCCCAGCCTGTTTCCCCAGCTGTACACAAAAGCAATCAGACGTCATGTCCCCAGCC
Task1_train_26318
This gene mutation involves MAP2K2 (mitogen-activated protein kinase kinase 2) on Chromosome 19. Is it associated with any clinical condition, or is it benign?
Pathogenic; RASopathy
AGTGCTGGGATTACAGGTGTGAGCCACCGCCCCTGGCTAGACCACCTCGGAACTTTTAAAGGGTGCACTCCATAACACAGACAGCACGGCCTGTGTCTCCCTCCTGCAGCCTGGTGGTCTGTGTGGTGTCCCCTGGGGTGCCAGCACCCACTCTGGGAACCCCCATTTTAAATTCACCAAGAATAGAGGTTGGGGGCGGGTTGCCACACTGTCCCCTTTCTGCATGGGAGGAAGGGGGCTCGAGAACTGAGTCAGCCACACAAAACGAGGATGGACAGAACTCCTGAGTAGCGAGGGTGCCTGCCGGGCGCGAGGAGGAGGGGGAAGACGAGGAAGACGAGGAGGAGGAATAGGGAGCACCACATGACAGAGGGGCTGCCTCAGACCACAAAGCGCTTCCTCATCCTTTCCTCGCCCTTTGATGCCGCCGGCAACGTGACTCTGCGAGCAGCGGGGCAGACGCCAGGTCTCCCTCGCAGGCGGGAAAGGGGCTCCAAGGCGGGTGCTGCCTTGCTCGGGTCACATGGCTACGTGGGGGCCTTGCTCAAATTCACTTCCTGCCTTCATTACAAAACTGTCAAAGGGGATCGCACGTTTGCAGGGTGTCACCCAAGCATTCTGGTTTTGCAAACGACGCTGTGCGGCAGGCGGTCTGATACCTGATGAGCTCGGTGTGGCGGGGTCGGCAGCATTTCCTCCGGGGTTTTGAGCTCTGGCCACTTCTCCTTTTGTTCCACCCAATCTCACCCACTTCTGGGCTTCGAGGCCAGAGTGTCTTAACAAGGGGGCACGTCAGAGTCAATGAAGGGGGTGCCTGTACCCCACCCTAGAGACTGTGGTCCCACAGATCTGAGCTGGGGGAGGCACAGGCCTGCCTTGACAAGCTCAGACTGCCACACTTTCCTGAGAAGGCCATTTAAAAACAGTCATCAGCTTTGTTATGTTTTGAGACAGCATCTCGCTCTGCTGCCCGGGCTGGAGTGCAGTGGCGTGACCAAAGCTCACTGTAGCCTCAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCTCATGTAGCTGGTGCTATTTTTATCCCCATTTTTAAATGTTGTTAACAATTTTAAAACAGGCACGTGCCACCACACTCACCTAATATTTTAAATTATAGAGATGGTTTCTCACTATGTTGCCCAGCCTGGTATCGAACTCCTGGGCTTAAATGATCCTCCCACCTCAGCCTCCCAAAATGGTAGGATTACAGGCATGAGCCACCGTGCCCGGCCTAATAGGGATCAGTTTTTAATTGCATCTACCCTGGAACCCAGCAATTCCCTCACACAGCTTACCTCACAGGTGTGCCTGCGAGTCAGTGCCATGTTATTTGAGATAGGGCAGAGACTGGAAACAACCTACGTACCCCCCAAAACGGGAGTGTTTTCCCTCTCTGCTGTCATAAGGACGCCCGGGATACAGCAAGAGAAAAAGCAAAGCTGGGAGGAAGACATGAGTGCTTAAAAAACAAAATCATTGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGTCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAAGTATCACTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTACTAGATTCTAGCCTGAGTGACAGAGTGAGACTGCCTCTCAAAAAAACAAAAAGAAAACAAAACAAAACCAAAGGCATCTACATATACATACTTGTATGGCATCGACTGCCTTGAGAAGGATCCCCTGGAAGCCAGCGCACTGTTGCCTCTGAGGAAAGGGGCCGTGAGGGGGTCTTCCTTCTCCCCAACATGCTCTGTTCCGTGGAGGCCCTGCCCCTGCCCCTGCCCCGGACGCACTCACCATGTGTTCCATGCAAATGCTGATCTCCCCGTCACTGTAGAAGGCCCCGTAGAAGCCCACGATGTACGGCGAGTTGCATTCGTGCAGGACCTGCAGCTCGCGGATGATCTGGTTCCGGATGGCCGGCTTGATCTCAAGGTGGATCAGCTGCAAGGGGAGAGGGGCGAGACTGGCTTGGGGGGTGCCCGAAAACGGGATGAAGGCATTTGGGGCCTCTGCTCTGCAGGCGTTCCCAACAGTGGTCAAGACCAACTCAGTACCCCCTCCGCAATTCCACCCCTAGGTGTCTGCCTAGAAGTGGACACATACGTCCACACAGAAACGTGTCCCAAGTGCTCACAGCAGCACGACTCACAGCAGGCAAGGGTGGAAAGAACCCAGGCGTCCACCCAGGGCAGAACAGGCCAACCCAGCGCAGCCCACCCCTCACTGAAACAGGACTCAGCCGTAAAGAGGAACCAGGCCAAGACCCCGGCCACAGCGTGGGTGAACCCTGAGGATGTCATGCTTAGTGCGAGATGCCAGACACAAAAGGCCACATAATATGTGATCCCATTTCTGTGAAATGTCCAGGACAGGCTGATCCAGAGACAGGAAGGGGATGTGTGGGTGCCGGGGGCTGGAGGAGGGGATGGGGGTGACTGCTGATGTGGACAGGGTTCTTTTTGGGGTGATGGAATACTGTAAAATTGACTGTGGTGATGAGGACGATGCCGTGAATATCCTACAATCCACTGAGTCACATACTTTCAAAGGGGACACTGTAAGGTATGTGAATTACACCTCAATAAACCTGTTTTCAAAAAAGACCAATTAAGCAAACACTTAATTCCCACTCAGTTGTAGTGGGAGCTGTGTGAAAGCATTTTTCCCCATCAAATCAGACTTTGACAAAGTGCTTGCCTTTCCCAGGAGGGAGGCAGGGCAATGGCTCCCCTCCAGGCCTCTCTCCACTTGGGGTGGGTCTATCCCGAGCCCCTTCCCACCCTCAAGCTGGAGACACCCCGTGGAGACGTTAGCCACACAGAGCCGCGGGCGCCCCTGAGAATTCTCCCTCTCCTTCAACCCAAGTTCAAGACGGCAGGGGAAATTTTCATCAAGTTGACCCCGGTGCCACTTTAAAAAGGCAAGAAGCCAAAGATCCGCTCAAGAGATGCAGAAAGGAGGCCTGGTGTGTGGCTCACGCCTGTAATCCCGCACTCCGGGAGGCTGAGGTGGGCGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCGGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAATTTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTTTGTCTCAAAAAAACCCCCAAAAAAACAAAACAACAACAACAACAACAACAAAAACACCACGGGCAACCCCTAACCCCATGGACAAGCCCCAGAAGAGCCAGGACCCCCAGCATGGCAAGGAGCAGCCTGAGGCTTTGGGACGGCACCCTGGAGAATCACAGCATCCCGCTCCAGCCACTGCAATAAGACAAGAAAAAGACATGGTTTCCACTCATCCGCCACAGAGGCAAAGCCAGGCCCAGGTGCAGTCAGTGAAGGGGCGGCCAAGCACGGAGACAGCTCCTTCCTGGAGGAGACCTGGGGTCAGGACGGGAACAGGAATGGGTAAGACCACCTCAATGTGGCAAAAAGTCCACCAAGGAGAATCAACCCAGGTGCCTGGGGAGCAGCAACAAGGAGGTGACACTGGGGCCGGGCCTTGAGGAAGGACAGAGTCACCATGAGGAGGAGATGGGGGAGGGTGTTCCAGGCAGAGGGACAAAGAGCCGCCTGTCAGCGGGCACGGAGGCATGAAGGAGCCCTCGCTGTGTTCAGGGCAGCAGGAGGCTGACCGTGGCCACAGCACAGGGCGTGTGTGGGGAGTGGCCCCTGCTCTAGGCCTGTGACCTTGAGAAGCATGGCAGGGCCCGGGGCACGGTGCCCACCTCCCCCCGCCCGG
AGTGCTGGGATTACAGGTGTGAGCCACCGCCCCTGGCTAGACCACCTCGGAACTTTTAAAGGGTGCACTCCATAACACAGACAGCACGGCCTGTGTCTCCCTCCTGCAGCCTGGTGGTCTGTGTGGTGTCCCCTGGGGTGCCAGCACCCACTCTGGGAACCCCCATTTTAAATTCACCAAGAATAGAGGTTGGGGGCGGGTTGCCACACTGTCCCCTTTCTGCATGGGAGGAAGGGGGCTCGAGAACTGAGTCAGCCACACAAAACGAGGATGGACAGAACTCCTGAGTAGCGAGGGTGCCTGCCGGGCGCGAGGAGGAGGGGGAAGACGAGGAAGACGAGGAGGAGGAATAGGGAGCACCACATGACAGAGGGGCTGCCTCAGACCACAAAGCGCTTCCTCATCCTTTCCTCGCCCTTTGATGCCGCCGGCAACGTGACTCTGCGAGCAGCGGGGCAGACGCCAGGTCTCCCTCGCAGGCGGGAAAGGGGCTCCAAGGCGGGTGCTGCCTTGCTCGGGTCACATGGCTACGTGGGGGCCTTGCTCAAATTCACTTCCTGCCTTCATTACAAAACTGTCAAAGGGGATCGCACGTTTGCAGGGTGTCACCCAAGCATTCTGGTTTTGCAAACGACGCTGTGCGGCAGGCGGTCTGATACCTGATGAGCTCGGTGTGGCGGGGTCGGCAGCATTTCCTCCGGGGTTTTGAGCTCTGGCCACTTCTCCTTTTGTTCCACCCAATCTCACCCACTTCTGGGCTTCGAGGCCAGAGTGTCTTAACAAGGGGGCACGTCAGAGTCAATGAAGGGGGTGCCTGTACCCCACCCTAGAGACTGTGGTCCCACAGATCTGAGCTGGGGGAGGCACAGGCCTGCCTTGACAAGCTCAGACTGCCACACTTTCCTGAGAAGGCCATTTAAAAACAGTCATCAGCTTTGTTATGTTTTGAGACAGCATCTCGCTCTGCTGCCCGGGCTGGAGTGCAGTGGCGTGACCAAAGCTCACTGTAGCCTCAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCTCATGTAGCTGGTGCTATTTTTATCCCCATTTTTAAATGTTGTTAACAATTTTAAAACAGGCACGTGCCACCACACTCACCTAATATTTTAAATTATAGAGATGGTTTCTCACTATGTTGCCCAGCCTGGTATCGAACTCCTGGGCTTAAATGATCCTCCCACCTCAGCCTCCCAAAATGGTAGGATTACAGGCATGAGCCACCGTGCCCGGCCTAATAGGGATCAGTTTTTAATTGCATCTACCCTGGAACCCAGCAATTCCCTCACACAGCTTACCTCACAGGTGTGCCTGCGAGTCAGTGCCATGTTATTTGAGATAGGGCAGAGACTGGAAACAACCTACGTACCCCCCAAAACGGGAGTGTTTTCCCTCTCTGCTGTCATAAGGACGCCCGGGATACAGCAAGAGAAAAAGCAAAGCTGGGAGGAAGACATGAGTGCTTAAAAAACAAAATCATTGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGTCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAAGTATCACTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTACTAGATTCTAGCCTGAGTGACAGAGTGAGACTGCCTCTCAAAAAAACAAAAAGAAAACAAAACAAAACCAAAGGCATCTACATATACATACTTGTATGGCATCGACTGCCTTGAGAAGGATCCCCTGGAAGCCAGCGCACTGTTGCCTCTGAGGAAAGGGGCCGTGAGGGGGTCTTCCTTCTCCCCAACATGCTCTGTTCCGTGGAGGCCCTGCCCCTGCCCCTGCCCCGGACGCACTCACCATGTGTTCCATGCAAATGCTGATCTCCCCGTCACTGTAGAAGGCCCCGCAGAAGCCCACGATGTACGGCGAGTTGCATTCGTGCAGGACCTGCAGCTCGCGGATGATCTGGTTCCGGATGGCCGGCTTGATCTCAAGGTGGATCAGCTGCAAGGGGAGAGGGGCGAGACTGGCTTGGGGGGTGCCCGAAAACGGGATGAAGGCATTTGGGGCCTCTGCTCTGCAGGCGTTCCCAACAGTGGTCAAGACCAACTCAGTACCCCCTCCGCAATTCCACCCCTAGGTGTCTGCCTAGAAGTGGACACATACGTCCACACAGAAACGTGTCCCAAGTGCTCACAGCAGCACGACTCACAGCAGGCAAGGGTGGAAAGAACCCAGGCGTCCACCCAGGGCAGAACAGGCCAACCCAGCGCAGCCCACCCCTCACTGAAACAGGACTCAGCCGTAAAGAGGAACCAGGCCAAGACCCCGGCCACAGCGTGGGTGAACCCTGAGGATGTCATGCTTAGTGCGAGATGCCAGACACAAAAGGCCACATAATATGTGATCCCATTTCTGTGAAATGTCCAGGACAGGCTGATCCAGAGACAGGAAGGGGATGTGTGGGTGCCGGGGGCTGGAGGAGGGGATGGGGGTGACTGCTGATGTGGACAGGGTTCTTTTTGGGGTGATGGAATACTGTAAAATTGACTGTGGTGATGAGGACGATGCCGTGAATATCCTACAATCCACTGAGTCACATACTTTCAAAGGGGACACTGTAAGGTATGTGAATTACACCTCAATAAACCTGTTTTCAAAAAAGACCAATTAAGCAAACACTTAATTCCCACTCAGTTGTAGTGGGAGCTGTGTGAAAGCATTTTTCCCCATCAAATCAGACTTTGACAAAGTGCTTGCCTTTCCCAGGAGGGAGGCAGGGCAATGGCTCCCCTCCAGGCCTCTCTCCACTTGGGGTGGGTCTATCCCGAGCCCCTTCCCACCCTCAAGCTGGAGACACCCCGTGGAGACGTTAGCCACACAGAGCCGCGGGCGCCCCTGAGAATTCTCCCTCTCCTTCAACCCAAGTTCAAGACGGCAGGGGAAATTTTCATCAAGTTGACCCCGGTGCCACTTTAAAAAGGCAAGAAGCCAAAGATCCGCTCAAGAGATGCAGAAAGGAGGCCTGGTGTGTGGCTCACGCCTGTAATCCCGCACTCCGGGAGGCTGAGGTGGGCGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCGGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAATTTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTTTGTCTCAAAAAAACCCCCAAAAAAACAAAACAACAACAACAACAACAACAAAAACACCACGGGCAACCCCTAACCCCATGGACAAGCCCCAGAAGAGCCAGGACCCCCAGCATGGCAAGGAGCAGCCTGAGGCTTTGGGACGGCACCCTGGAGAATCACAGCATCCCGCTCCAGCCACTGCAATAAGACAAGAAAAAGACATGGTTTCCACTCATCCGCCACAGAGGCAAAGCCAGGCCCAGGTGCAGTCAGTGAAGGGGCGGCCAAGCACGGAGACAGCTCCTTCCTGGAGGAGACCTGGGGTCAGGACGGGAACAGGAATGGGTAAGACCACCTCAATGTGGCAAAAAGTCCACCAAGGAGAATCAACCCAGGTGCCTGGGGAGCAGCAACAAGGAGGTGACACTGGGGCCGGGCCTTGAGGAAGGACAGAGTCACCATGAGGAGGAGATGGGGGAGGGTGTTCCAGGCAGAGGGACAAAGAGCCGCCTGTCAGCGGGCACGGAGGCATGAAGGAGCCCTCGCTGTGTTCAGGGCAGCAGGAGGCTGACCGTGGCCACAGCACAGGGCGTGTGTGGGGAGTGGCCCCTGCTCTAGGCCTGTGACCTTGAGAAGCATGGCAGGGCCCGGGGCACGGTGCCCACCTCCCCCCGCCCGG
Task1_train_26319
Here is a genetic alteration in MAP2K2 (mitogen-activated protein kinase kinase 2) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; not provided
GTGAGCCACCGCCCCTGGCTAGACCACCTCGGAACTTTTAAAGGGTGCACTCCATAACACAGACAGCACGGCCTGTGTCTCCCTCCTGCAGCCTGGTGGTCTGTGTGGTGTCCCCTGGGGTGCCAGCACCCACTCTGGGAACCCCCATTTTAAATTCACCAAGAATAGAGGTTGGGGGCGGGTTGCCACACTGTCCCCTTTCTGCATGGGAGGAAGGGGGCTCGAGAACTGAGTCAGCCACACAAAACGAGGATGGACAGAACTCCTGAGTAGCGAGGGTGCCTGCCGGGCGCGAGGAGGAGGGGGAAGACGAGGAAGACGAGGAGGAGGAATAGGGAGCACCACATGACAGAGGGGCTGCCTCAGACCACAAAGCGCTTCCTCATCCTTTCCTCGCCCTTTGATGCCGCCGGCAACGTGACTCTGCGAGCAGCGGGGCAGACGCCAGGTCTCCCTCGCAGGCGGGAAAGGGGCTCCAAGGCGGGTGCTGCCTTGCTCGGGTCACATGGCTACGTGGGGGCCTTGCTCAAATTCACTTCCTGCCTTCATTACAAAACTGTCAAAGGGGATCGCACGTTTGCAGGGTGTCACCCAAGCATTCTGGTTTTGCAAACGACGCTGTGCGGCAGGCGGTCTGATACCTGATGAGCTCGGTGTGGCGGGGTCGGCAGCATTTCCTCCGGGGTTTTGAGCTCTGGCCACTTCTCCTTTTGTTCCACCCAATCTCACCCACTTCTGGGCTTCGAGGCCAGAGTGTCTTAACAAGGGGGCACGTCAGAGTCAATGAAGGGGGTGCCTGTACCCCACCCTAGAGACTGTGGTCCCACAGATCTGAGCTGGGGGAGGCACAGGCCTGCCTTGACAAGCTCAGACTGCCACACTTTCCTGAGAAGGCCATTTAAAAACAGTCATCAGCTTTGTTATGTTTTGAGACAGCATCTCGCTCTGCTGCCCGGGCTGGAGTGCAGTGGCGTGACCAAAGCTCACTGTAGCCTCAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCTCATGTAGCTGGTGCTATTTTTATCCCCATTTTTAAATGTTGTTAACAATTTTAAAACAGGCACGTGCCACCACACTCACCTAATATTTTAAATTATAGAGATGGTTTCTCACTATGTTGCCCAGCCTGGTATCGAACTCCTGGGCTTAAATGATCCTCCCACCTCAGCCTCCCAAAATGGTAGGATTACAGGCATGAGCCACCGTGCCCGGCCTAATAGGGATCAGTTTTTAATTGCATCTACCCTGGAACCCAGCAATTCCCTCACACAGCTTACCTCACAGGTGTGCCTGCGAGTCAGTGCCATGTTATTTGAGATAGGGCAGAGACTGGAAACAACCTACGTACCCCCCAAAACGGGAGTGTTTTCCCTCTCTGCTGTCATAAGGACGCCCGGGATACAGCAAGAGAAAAAGCAAAGCTGGGAGGAAGACATGAGTGCTTAAAAAACAAAATCATTGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGTCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAAGTATCACTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTACTAGATTCTAGCCTGAGTGACAGAGTGAGACTGCCTCTCAAAAAAACAAAAAGAAAACAAAACAAAACCAAAGGCATCTACATATACATACTTGTATGGCATCGACTGCCTTGAGAAGGATCCCCTGGAAGCCAGCGCACTGTTGCCTCTGAGGAAAGGGGCCGTGAGGGGGTCTTCCTTCTCCCCAACATGCTCTGTTCCGTGGAGGCCCTGCCCCTGCCCCTGCCCCGGACGCACTCACCATGTGTTCCATGCAAATGCTGATCTCCCCGTCACTGTAGAAGGCCCCGTAGAAGCCCACGATGTACGGCGAGTTGCATTCGTGCAGGACCTGCAGCTCGCGGATGATCTGGTTCCGGATGGCCGGCTTGATCTCAAGGTGGATCAGCTGCAAGGGGAGAGGGGCGAGACTGGCTTGGGGGGTGCCCGAAAACGGGATGAAGGCATTTGGGGCCTCTGCTCTGCAGGCGTTCCCAACAGTGGTCAAGACCAACTCAGTACCCCCTCCGCAATTCCACCCCTAGGTGTCTGCCTAGAAGTGGACACATACGTCCACACAGAAACGTGTCCCAAGTGCTCACAGCAGCACGACTCACAGCAGGCAAGGGTGGAAAGAACCCAGGCGTCCACCCAGGGCAGAACAGGCCAACCCAGCGCAGCCCACCCCTCACTGAAACAGGACTCAGCCGTAAAGAGGAACCAGGCCAAGACCCCGGCCACAGCGTGGGTGAACCCTGAGGATGTCATGCTTAGTGCGAGATGCCAGACACAAAAGGCCACATAATATGTGATCCCATTTCTGTGAAATGTCCAGGACAGGCTGATCCAGAGACAGGAAGGGGATGTGTGGGTGCCGGGGGCTGGAGGAGGGGATGGGGGTGACTGCTGATGTGGACAGGGTTCTTTTTGGGGTGATGGAATACTGTAAAATTGACTGTGGTGATGAGGACGATGCCGTGAATATCCTACAATCCACTGAGTCACATACTTTCAAAGGGGACACTGTAAGGTATGTGAATTACACCTCAATAAACCTGTTTTCAAAAAAGACCAATTAAGCAAACACTTAATTCCCACTCAGTTGTAGTGGGAGCTGTGTGAAAGCATTTTTCCCCATCAAATCAGACTTTGACAAAGTGCTTGCCTTTCCCAGGAGGGAGGCAGGGCAATGGCTCCCCTCCAGGCCTCTCTCCACTTGGGGTGGGTCTATCCCGAGCCCCTTCCCACCCTCAAGCTGGAGACACCCCGTGGAGACGTTAGCCACACAGAGCCGCGGGCGCCCCTGAGAATTCTCCCTCTCCTTCAACCCAAGTTCAAGACGGCAGGGGAAATTTTCATCAAGTTGACCCCGGTGCCACTTTAAAAAGGCAAGAAGCCAAAGATCCGCTCAAGAGATGCAGAAAGGAGGCCTGGTGTGTGGCTCACGCCTGTAATCCCGCACTCCGGGAGGCTGAGGTGGGCGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCGGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAATTTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTTTGTCTCAAAAAAACCCCCAAAAAAACAAAACAACAACAACAACAACAACAAAAACACCACGGGCAACCCCTAACCCCATGGACAAGCCCCAGAAGAGCCAGGACCCCCAGCATGGCAAGGAGCAGCCTGAGGCTTTGGGACGGCACCCTGGAGAATCACAGCATCCCGCTCCAGCCACTGCAATAAGACAAGAAAAAGACATGGTTTCCACTCATCCGCCACAGAGGCAAAGCCAGGCCCAGGTGCAGTCAGTGAAGGGGCGGCCAAGCACGGAGACAGCTCCTTCCTGGAGGAGACCTGGGGTCAGGACGGGAACAGGAATGGGTAAGACCACCTCAATGTGGCAAAAAGTCCACCAAGGAGAATCAACCCAGGTGCCTGGGGAGCAGCAACAAGGAGGTGACACTGGGGCCGGGCCTTGAGGAAGGACAGAGTCACCATGAGGAGGAGATGGGGGAGGGTGTTCCAGGCAGAGGGACAAAGAGCCGCCTGTCAGCGGGCACGGAGGCATGAAGGAGCCCTCGCTGTGTTCAGGGCAGCAGGAGGCTGACCGTGGCCACAGCACAGGGCGTGTGTGGGGAGTGGCCCCTGCTCTAGGCCTGTGACCTTGAGAAGCATGGCAGGGCCCGGGGCACGGTGCCCACCTCCCCCCGCCCGGCCGCTCCTCAGGCTAAGC
GTGAGCCACCGCCCCTGGCTAGACCACCTCGGAACTTTTAAAGGGTGCACTCCATAACACAGACAGCACGGCCTGTGTCTCCCTCCTGCAGCCTGGTGGTCTGTGTGGTGTCCCCTGGGGTGCCAGCACCCACTCTGGGAACCCCCATTTTAAATTCACCAAGAATAGAGGTTGGGGGCGGGTTGCCACACTGTCCCCTTTCTGCATGGGAGGAAGGGGGCTCGAGAACTGAGTCAGCCACACAAAACGAGGATGGACAGAACTCCTGAGTAGCGAGGGTGCCTGCCGGGCGCGAGGAGGAGGGGGAAGACGAGGAAGACGAGGAGGAGGAATAGGGAGCACCACATGACAGAGGGGCTGCCTCAGACCACAAAGCGCTTCCTCATCCTTTCCTCGCCCTTTGATGCCGCCGGCAACGTGACTCTGCGAGCAGCGGGGCAGACGCCAGGTCTCCCTCGCAGGCGGGAAAGGGGCTCCAAGGCGGGTGCTGCCTTGCTCGGGTCACATGGCTACGTGGGGGCCTTGCTCAAATTCACTTCCTGCCTTCATTACAAAACTGTCAAAGGGGATCGCACGTTTGCAGGGTGTCACCCAAGCATTCTGGTTTTGCAAACGACGCTGTGCGGCAGGCGGTCTGATACCTGATGAGCTCGGTGTGGCGGGGTCGGCAGCATTTCCTCCGGGGTTTTGAGCTCTGGCCACTTCTCCTTTTGTTCCACCCAATCTCACCCACTTCTGGGCTTCGAGGCCAGAGTGTCTTAACAAGGGGGCACGTCAGAGTCAATGAAGGGGGTGCCTGTACCCCACCCTAGAGACTGTGGTCCCACAGATCTGAGCTGGGGGAGGCACAGGCCTGCCTTGACAAGCTCAGACTGCCACACTTTCCTGAGAAGGCCATTTAAAAACAGTCATCAGCTTTGTTATGTTTTGAGACAGCATCTCGCTCTGCTGCCCGGGCTGGAGTGCAGTGGCGTGACCAAAGCTCACTGTAGCCTCAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCTCATGTAGCTGGTGCTATTTTTATCCCCATTTTTAAATGTTGTTAACAATTTTAAAACAGGCACGTGCCACCACACTCACCTAATATTTTAAATTATAGAGATGGTTTCTCACTATGTTGCCCAGCCTGGTATCGAACTCCTGGGCTTAAATGATCCTCCCACCTCAGCCTCCCAAAATGGTAGGATTACAGGCATGAGCCACCGTGCCCGGCCTAATAGGGATCAGTTTTTAATTGCATCTACCCTGGAACCCAGCAATTCCCTCACACAGCTTACCTCACAGGTGTGCCTGCGAGTCAGTGCCATGTTATTTGAGATAGGGCAGAGACTGGAAACAACCTACGTACCCCCCAAAACGGGAGTGTTTTCCCTCTCTGCTGTCATAAGGACGCCCGGGATACAGCAAGAGAAAAAGCAAAGCTGGGAGGAAGACATGAGTGCTTAAAAAACAAAATCATTGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGTCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAAGTATCACTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTACTAGATTCTAGCCTGAGTGACAGAGTGAGACTGCCTCTCAAAAAAACAAAAAGAAAACAAAACAAAACCAAAGGCATCTACATATACATACTTGTATGGCATCGACTGCCTTGAGAAGGATCCCCTGGAAGCCAGCGCACTGTTGCCTCTGAGGAAAGGGGCCGTGAGGGGGTCTTCCTTCTCCCCAACATGCTCTGTTCCGTGGAGGCCCTGCCCCTGCCCCTGCCCCGGACGCACTCACCATGTGTTCCATGCAAATGCTGATCTCCCCGTCACTGTAGAAGGCCCCGTAGAAGCCCACGATGTACAGCGAGTTGCATTCGTGCAGGACCTGCAGCTCGCGGATGATCTGGTTCCGGATGGCCGGCTTGATCTCAAGGTGGATCAGCTGCAAGGGGAGAGGGGCGAGACTGGCTTGGGGGGTGCCCGAAAACGGGATGAAGGCATTTGGGGCCTCTGCTCTGCAGGCGTTCCCAACAGTGGTCAAGACCAACTCAGTACCCCCTCCGCAATTCCACCCCTAGGTGTCTGCCTAGAAGTGGACACATACGTCCACACAGAAACGTGTCCCAAGTGCTCACAGCAGCACGACTCACAGCAGGCAAGGGTGGAAAGAACCCAGGCGTCCACCCAGGGCAGAACAGGCCAACCCAGCGCAGCCCACCCCTCACTGAAACAGGACTCAGCCGTAAAGAGGAACCAGGCCAAGACCCCGGCCACAGCGTGGGTGAACCCTGAGGATGTCATGCTTAGTGCGAGATGCCAGACACAAAAGGCCACATAATATGTGATCCCATTTCTGTGAAATGTCCAGGACAGGCTGATCCAGAGACAGGAAGGGGATGTGTGGGTGCCGGGGGCTGGAGGAGGGGATGGGGGTGACTGCTGATGTGGACAGGGTTCTTTTTGGGGTGATGGAATACTGTAAAATTGACTGTGGTGATGAGGACGATGCCGTGAATATCCTACAATCCACTGAGTCACATACTTTCAAAGGGGACACTGTAAGGTATGTGAATTACACCTCAATAAACCTGTTTTCAAAAAAGACCAATTAAGCAAACACTTAATTCCCACTCAGTTGTAGTGGGAGCTGTGTGAAAGCATTTTTCCCCATCAAATCAGACTTTGACAAAGTGCTTGCCTTTCCCAGGAGGGAGGCAGGGCAATGGCTCCCCTCCAGGCCTCTCTCCACTTGGGGTGGGTCTATCCCGAGCCCCTTCCCACCCTCAAGCTGGAGACACCCCGTGGAGACGTTAGCCACACAGAGCCGCGGGCGCCCCTGAGAATTCTCCCTCTCCTTCAACCCAAGTTCAAGACGGCAGGGGAAATTTTCATCAAGTTGACCCCGGTGCCACTTTAAAAAGGCAAGAAGCCAAAGATCCGCTCAAGAGATGCAGAAAGGAGGCCTGGTGTGTGGCTCACGCCTGTAATCCCGCACTCCGGGAGGCTGAGGTGGGCGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCGGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAATTTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTTTGTCTCAAAAAAACCCCCAAAAAAACAAAACAACAACAACAACAACAACAAAAACACCACGGGCAACCCCTAACCCCATGGACAAGCCCCAGAAGAGCCAGGACCCCCAGCATGGCAAGGAGCAGCCTGAGGCTTTGGGACGGCACCCTGGAGAATCACAGCATCCCGCTCCAGCCACTGCAATAAGACAAGAAAAAGACATGGTTTCCACTCATCCGCCACAGAGGCAAAGCCAGGCCCAGGTGCAGTCAGTGAAGGGGCGGCCAAGCACGGAGACAGCTCCTTCCTGGAGGAGACCTGGGGTCAGGACGGGAACAGGAATGGGTAAGACCACCTCAATGTGGCAAAAAGTCCACCAAGGAGAATCAACCCAGGTGCCTGGGGAGCAGCAACAAGGAGGTGACACTGGGGCCGGGCCTTGAGGAAGGACAGAGTCACCATGAGGAGGAGATGGGGGAGGGTGTTCCAGGCAGAGGGACAAAGAGCCGCCTGTCAGCGGGCACGGAGGCATGAAGGAGCCCTCGCTGTGTTCAGGGCAGCAGGAGGCTGACCGTGGCCACAGCACAGGGCGTGTGTGGGGAGTGGCCCCTGCTCTAGGCCTGTGACCTTGAGAAGCATGGCAGGGCCCGGGGCACGGTGCCCACCTCCCCCCGCCCGGCCGCTCCTCAGGCTAAGC
Task1_train_26320
This alteration occurs within gene MAP2K2 (mitogen-activated protein kinase kinase 2) located on Chromosome 19. Is it associated with a disease or is it a benign variant?
Pathogenic; RASopathy
GTGAGCCACCGCCCCTGGCTAGACCACCTCGGAACTTTTAAAGGGTGCACTCCATAACACAGACAGCACGGCCTGTGTCTCCCTCCTGCAGCCTGGTGGTCTGTGTGGTGTCCCCTGGGGTGCCAGCACCCACTCTGGGAACCCCCATTTTAAATTCACCAAGAATAGAGGTTGGGGGCGGGTTGCCACACTGTCCCCTTTCTGCATGGGAGGAAGGGGGCTCGAGAACTGAGTCAGCCACACAAAACGAGGATGGACAGAACTCCTGAGTAGCGAGGGTGCCTGCCGGGCGCGAGGAGGAGGGGGAAGACGAGGAAGACGAGGAGGAGGAATAGGGAGCACCACATGACAGAGGGGCTGCCTCAGACCACAAAGCGCTTCCTCATCCTTTCCTCGCCCTTTGATGCCGCCGGCAACGTGACTCTGCGAGCAGCGGGGCAGACGCCAGGTCTCCCTCGCAGGCGGGAAAGGGGCTCCAAGGCGGGTGCTGCCTTGCTCGGGTCACATGGCTACGTGGGGGCCTTGCTCAAATTCACTTCCTGCCTTCATTACAAAACTGTCAAAGGGGATCGCACGTTTGCAGGGTGTCACCCAAGCATTCTGGTTTTGCAAACGACGCTGTGCGGCAGGCGGTCTGATACCTGATGAGCTCGGTGTGGCGGGGTCGGCAGCATTTCCTCCGGGGTTTTGAGCTCTGGCCACTTCTCCTTTTGTTCCACCCAATCTCACCCACTTCTGGGCTTCGAGGCCAGAGTGTCTTAACAAGGGGGCACGTCAGAGTCAATGAAGGGGGTGCCTGTACCCCACCCTAGAGACTGTGGTCCCACAGATCTGAGCTGGGGGAGGCACAGGCCTGCCTTGACAAGCTCAGACTGCCACACTTTCCTGAGAAGGCCATTTAAAAACAGTCATCAGCTTTGTTATGTTTTGAGACAGCATCTCGCTCTGCTGCCCGGGCTGGAGTGCAGTGGCGTGACCAAAGCTCACTGTAGCCTCAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCTCATGTAGCTGGTGCTATTTTTATCCCCATTTTTAAATGTTGTTAACAATTTTAAAACAGGCACGTGCCACCACACTCACCTAATATTTTAAATTATAGAGATGGTTTCTCACTATGTTGCCCAGCCTGGTATCGAACTCCTGGGCTTAAATGATCCTCCCACCTCAGCCTCCCAAAATGGTAGGATTACAGGCATGAGCCACCGTGCCCGGCCTAATAGGGATCAGTTTTTAATTGCATCTACCCTGGAACCCAGCAATTCCCTCACACAGCTTACCTCACAGGTGTGCCTGCGAGTCAGTGCCATGTTATTTGAGATAGGGCAGAGACTGGAAACAACCTACGTACCCCCCAAAACGGGAGTGTTTTCCCTCTCTGCTGTCATAAGGACGCCCGGGATACAGCAAGAGAAAAAGCAAAGCTGGGAGGAAGACATGAGTGCTTAAAAAACAAAATCATTGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGTCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAAGTATCACTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTACTAGATTCTAGCCTGAGTGACAGAGTGAGACTGCCTCTCAAAAAAACAAAAAGAAAACAAAACAAAACCAAAGGCATCTACATATACATACTTGTATGGCATCGACTGCCTTGAGAAGGATCCCCTGGAAGCCAGCGCACTGTTGCCTCTGAGGAAAGGGGCCGTGAGGGGGTCTTCCTTCTCCCCAACATGCTCTGTTCCGTGGAGGCCCTGCCCCTGCCCCTGCCCCGGACGCACTCACCATGTGTTCCATGCAAATGCTGATCTCCCCGTCACTGTAGAAGGCCCCGTAGAAGCCCACGATGTACGGCGAGTTGCATTCGTGCAGGACCTGCAGCTCGCGGATGATCTGGTTCCGGATGGCCGGCTTGATCTCAAGGTGGATCAGCTGCAAGGGGAGAGGGGCGAGACTGGCTTGGGGGGTGCCCGAAAACGGGATGAAGGCATTTGGGGCCTCTGCTCTGCAGGCGTTCCCAACAGTGGTCAAGACCAACTCAGTACCCCCTCCGCAATTCCACCCCTAGGTGTCTGCCTAGAAGTGGACACATACGTCCACACAGAAACGTGTCCCAAGTGCTCACAGCAGCACGACTCACAGCAGGCAAGGGTGGAAAGAACCCAGGCGTCCACCCAGGGCAGAACAGGCCAACCCAGCGCAGCCCACCCCTCACTGAAACAGGACTCAGCCGTAAAGAGGAACCAGGCCAAGACCCCGGCCACAGCGTGGGTGAACCCTGAGGATGTCATGCTTAGTGCGAGATGCCAGACACAAAAGGCCACATAATATGTGATCCCATTTCTGTGAAATGTCCAGGACAGGCTGATCCAGAGACAGGAAGGGGATGTGTGGGTGCCGGGGGCTGGAGGAGGGGATGGGGGTGACTGCTGATGTGGACAGGGTTCTTTTTGGGGTGATGGAATACTGTAAAATTGACTGTGGTGATGAGGACGATGCCGTGAATATCCTACAATCCACTGAGTCACATACTTTCAAAGGGGACACTGTAAGGTATGTGAATTACACCTCAATAAACCTGTTTTCAAAAAAGACCAATTAAGCAAACACTTAATTCCCACTCAGTTGTAGTGGGAGCTGTGTGAAAGCATTTTTCCCCATCAAATCAGACTTTGACAAAGTGCTTGCCTTTCCCAGGAGGGAGGCAGGGCAATGGCTCCCCTCCAGGCCTCTCTCCACTTGGGGTGGGTCTATCCCGAGCCCCTTCCCACCCTCAAGCTGGAGACACCCCGTGGAGACGTTAGCCACACAGAGCCGCGGGCGCCCCTGAGAATTCTCCCTCTCCTTCAACCCAAGTTCAAGACGGCAGGGGAAATTTTCATCAAGTTGACCCCGGTGCCACTTTAAAAAGGCAAGAAGCCAAAGATCCGCTCAAGAGATGCAGAAAGGAGGCCTGGTGTGTGGCTCACGCCTGTAATCCCGCACTCCGGGAGGCTGAGGTGGGCGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCGGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAATTTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTTTGTCTCAAAAAAACCCCCAAAAAAACAAAACAACAACAACAACAACAACAAAAACACCACGGGCAACCCCTAACCCCATGGACAAGCCCCAGAAGAGCCAGGACCCCCAGCATGGCAAGGAGCAGCCTGAGGCTTTGGGACGGCACCCTGGAGAATCACAGCATCCCGCTCCAGCCACTGCAATAAGACAAGAAAAAGACATGGTTTCCACTCATCCGCCACAGAGGCAAAGCCAGGCCCAGGTGCAGTCAGTGAAGGGGCGGCCAAGCACGGAGACAGCTCCTTCCTGGAGGAGACCTGGGGTCAGGACGGGAACAGGAATGGGTAAGACCACCTCAATGTGGCAAAAAGTCCACCAAGGAGAATCAACCCAGGTGCCTGGGGAGCAGCAACAAGGAGGTGACACTGGGGCCGGGCCTTGAGGAAGGACAGAGTCACCATGAGGAGGAGATGGGGGAGGGTGTTCCAGGCAGAGGGACAAAGAGCCGCCTGTCAGCGGGCACGGAGGCATGAAGGAGCCCTCGCTGTGTTCAGGGCAGCAGGAGGCTGACCGTGGCCACAGCACAGGGCGTGTGTGGGGAGTGGCCCCTGCTCTAGGCCTGTGACCTTGAGAAGCATGGCAGGGCCCGGGGCACGGTGCCCACCTCCCCCCGCCCGGCCGCTCCTCAGGCTAAGC
GTGAGCCACCGCCCCTGGCTAGACCACCTCGGAACTTTTAAAGGGTGCACTCCATAACACAGACAGCACGGCCTGTGTCTCCCTCCTGCAGCCTGGTGGTCTGTGTGGTGTCCCCTGGGGTGCCAGCACCCACTCTGGGAACCCCCATTTTAAATTCACCAAGAATAGAGGTTGGGGGCGGGTTGCCACACTGTCCCCTTTCTGCATGGGAGGAAGGGGGCTCGAGAACTGAGTCAGCCACACAAAACGAGGATGGACAGAACTCCTGAGTAGCGAGGGTGCCTGCCGGGCGCGAGGAGGAGGGGGAAGACGAGGAAGACGAGGAGGAGGAATAGGGAGCACCACATGACAGAGGGGCTGCCTCAGACCACAAAGCGCTTCCTCATCCTTTCCTCGCCCTTTGATGCCGCCGGCAACGTGACTCTGCGAGCAGCGGGGCAGACGCCAGGTCTCCCTCGCAGGCGGGAAAGGGGCTCCAAGGCGGGTGCTGCCTTGCTCGGGTCACATGGCTACGTGGGGGCCTTGCTCAAATTCACTTCCTGCCTTCATTACAAAACTGTCAAAGGGGATCGCACGTTTGCAGGGTGTCACCCAAGCATTCTGGTTTTGCAAACGACGCTGTGCGGCAGGCGGTCTGATACCTGATGAGCTCGGTGTGGCGGGGTCGGCAGCATTTCCTCCGGGGTTTTGAGCTCTGGCCACTTCTCCTTTTGTTCCACCCAATCTCACCCACTTCTGGGCTTCGAGGCCAGAGTGTCTTAACAAGGGGGCACGTCAGAGTCAATGAAGGGGGTGCCTGTACCCCACCCTAGAGACTGTGGTCCCACAGATCTGAGCTGGGGGAGGCACAGGCCTGCCTTGACAAGCTCAGACTGCCACACTTTCCTGAGAAGGCCATTTAAAAACAGTCATCAGCTTTGTTATGTTTTGAGACAGCATCTCGCTCTGCTGCCCGGGCTGGAGTGCAGTGGCGTGACCAAAGCTCACTGTAGCCTCAACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCTCATGTAGCTGGTGCTATTTTTATCCCCATTTTTAAATGTTGTTAACAATTTTAAAACAGGCACGTGCCACCACACTCACCTAATATTTTAAATTATAGAGATGGTTTCTCACTATGTTGCCCAGCCTGGTATCGAACTCCTGGGCTTAAATGATCCTCCCACCTCAGCCTCCCAAAATGGTAGGATTACAGGCATGAGCCACCGTGCCCGGCCTAATAGGGATCAGTTTTTAATTGCATCTACCCTGGAACCCAGCAATTCCCTCACACAGCTTACCTCACAGGTGTGCCTGCGAGTCAGTGCCATGTTATTTGAGATAGGGCAGAGACTGGAAACAACCTACGTACCCCCCAAAACGGGAGTGTTTTCCCTCTCTGCTGTCATAAGGACGCCCGGGATACAGCAAGAGAAAAAGCAAAGCTGGGAGGAAGACATGAGTGCTTAAAAAACAAAATCATTGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGTCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGAGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGTCAGAAGTATCACTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTACTAGATTCTAGCCTGAGTGACAGAGTGAGACTGCCTCTCAAAAAAACAAAAAGAAAACAAAACAAAACCAAAGGCATCTACATATACATACTTGTATGGCATCGACTGCCTTGAGAAGGATCCCCTGGAAGCCAGCGCACTGTTGCCTCTGAGGAAAGGGGCCGTGAGGGGGTCTTCCTTCTCCCCAACATGCTCTGTTCCGTGGAGGCCCTGCCCCTGCCCCTGCCCCGGACGCACTCACCATGTGTTCCATGCAAATGCTGATCTCCCCGTCACTGTAGAAGGCCCCGTAGAAGCCCACGATGTACTGCGAGTTGCATTCGTGCAGGACCTGCAGCTCGCGGATGATCTGGTTCCGGATGGCCGGCTTGATCTCAAGGTGGATCAGCTGCAAGGGGAGAGGGGCGAGACTGGCTTGGGGGGTGCCCGAAAACGGGATGAAGGCATTTGGGGCCTCTGCTCTGCAGGCGTTCCCAACAGTGGTCAAGACCAACTCAGTACCCCCTCCGCAATTCCACCCCTAGGTGTCTGCCTAGAAGTGGACACATACGTCCACACAGAAACGTGTCCCAAGTGCTCACAGCAGCACGACTCACAGCAGGCAAGGGTGGAAAGAACCCAGGCGTCCACCCAGGGCAGAACAGGCCAACCCAGCGCAGCCCACCCCTCACTGAAACAGGACTCAGCCGTAAAGAGGAACCAGGCCAAGACCCCGGCCACAGCGTGGGTGAACCCTGAGGATGTCATGCTTAGTGCGAGATGCCAGACACAAAAGGCCACATAATATGTGATCCCATTTCTGTGAAATGTCCAGGACAGGCTGATCCAGAGACAGGAAGGGGATGTGTGGGTGCCGGGGGCTGGAGGAGGGGATGGGGGTGACTGCTGATGTGGACAGGGTTCTTTTTGGGGTGATGGAATACTGTAAAATTGACTGTGGTGATGAGGACGATGCCGTGAATATCCTACAATCCACTGAGTCACATACTTTCAAAGGGGACACTGTAAGGTATGTGAATTACACCTCAATAAACCTGTTTTCAAAAAAGACCAATTAAGCAAACACTTAATTCCCACTCAGTTGTAGTGGGAGCTGTGTGAAAGCATTTTTCCCCATCAAATCAGACTTTGACAAAGTGCTTGCCTTTCCCAGGAGGGAGGCAGGGCAATGGCTCCCCTCCAGGCCTCTCTCCACTTGGGGTGGGTCTATCCCGAGCCCCTTCCCACCCTCAAGCTGGAGACACCCCGTGGAGACGTTAGCCACACAGAGCCGCGGGCGCCCCTGAGAATTCTCCCTCTCCTTCAACCCAAGTTCAAGACGGCAGGGGAAATTTTCATCAAGTTGACCCCGGTGCCACTTTAAAAAGGCAAGAAGCCAAAGATCCGCTCAAGAGATGCAGAAAGGAGGCCTGGTGTGTGGCTCACGCCTGTAATCCCGCACTCCGGGAGGCTGAGGTGGGCGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCGGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAATTTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTTTGTCTCAAAAAAACCCCCAAAAAAACAAAACAACAACAACAACAACAACAAAAACACCACGGGCAACCCCTAACCCCATGGACAAGCCCCAGAAGAGCCAGGACCCCCAGCATGGCAAGGAGCAGCCTGAGGCTTTGGGACGGCACCCTGGAGAATCACAGCATCCCGCTCCAGCCACTGCAATAAGACAAGAAAAAGACATGGTTTCCACTCATCCGCCACAGAGGCAAAGCCAGGCCCAGGTGCAGTCAGTGAAGGGGCGGCCAAGCACGGAGACAGCTCCTTCCTGGAGGAGACCTGGGGTCAGGACGGGAACAGGAATGGGTAAGACCACCTCAATGTGGCAAAAAGTCCACCAAGGAGAATCAACCCAGGTGCCTGGGGAGCAGCAACAAGGAGGTGACACTGGGGCCGGGCCTTGAGGAAGGACAGAGTCACCATGAGGAGGAGATGGGGGAGGGTGTTCCAGGCAGAGGGACAAAGAGCCGCCTGTCAGCGGGCACGGAGGCATGAAGGAGCCCTCGCTGTGTTCAGGGCAGCAGGAGGCTGACCGTGGCCACAGCACAGGGCGTGTGTGGGGAGTGGCCCCTGCTCTAGGCCTGTGACCTTGAGAAGCATGGCAGGGCCCGGGGCACGGTGCCCACCTCCCCCCGCCCGGCCGCTCCTCAGGCTAAGC
Task1_train_26321
This variant lies on Chromosome 19 and affects the gene MAP2K2 (mitogen-activated protein kinase kinase 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; RASopathy
CTTGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCAGCGTTCTAGGTCTGAAAGAACACCGGTGAGGAGCTGAACACCCTGTCAACACTAAGTCCCCTACTTCTGTGTTTAAGAGCCACTGTCCCCAAGTGGTCACATCCTCCCTGTATCCCCTGGGCACTATTCTCAAACACAGAGCACAGAGGCTGCATCATGGCCCAGGAGCCCGGGATGACTAAGCACGGGGGCCGTCAGCACCAGGGCTTGCAGACTTTCAAAGGGTGGGTGACAGTCAGCTTTGTGTGTCTCCTCGGTGAGACCACGGTGCCCAGTTGTCAAACGCCAGTCTAGAGGTTGCTGGGAAGGTATGTTTTTAAGATGTGATTAACCTTTAAATTGGCAGACTCTGAGCAAAGCAGATTACTCCACCCCAGGGTGGGTGAGTCTCAGCCAATCAGCTGAAGGCCTTCAGGGAAAAGCCTGCCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAAGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAACCCCATCTCTACTAAAAAAACAAAAATTAACTGGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCAATTCCTTAGAATAAATCTCTCTCTACACATACACTCAAGTATCATTAAGGACAGGGATACACTGAGAAATCCCTCTCTGGGCGATGTCGTCACTGTGCAAACACTGGAAAGCCCATTCCACACCCAGGCTCCCATGCTCTGTACAGCGCAGTGCTGAGCTGCTGTCTGTTTATTTAAATATAGAGAACCGAGGCAGGCGGATCACCTGGGGTCAAGAGTTCCAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAACACAAAAAAATGAGCTGGGCCTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCCTTGAACCCAGGAGGCGGAGGTTGAAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCCGTCTCAAAAAGTAAAAATAAAAATAAAAATAAACATACAGAAGGCACAGCAAAAACATGGCCTGATCATCTTACGTCGCCACCGCTGCGTAGGCGGTCTGTCACTGGCTGAGCCATCGCCCTGAGGTGGCTGTACACATAGGCGCAAACACACACACGCTTCGTCTTCATCGCTTGTTTCTCTGGAGAACCATAACACACTCGCATTTCTGAAACCCCCACGTGCTAGCTTTCTGGGAATATGGATTTCAAGTGCCCTCCAGGGCAGAAAGTAGTCACTGGAGGGCACAGCTGTGTGTGGCTGGTGTGGCTGGCACGGCTCCCATCTGCCCAGAAGCTGGGCCCTTTCTCAGGACCTAGAGTCCCTGGTGGGGATGAGGGACAGAGCCTGGAGCTAATCAGAATGCAGAGACCCGGCTGCCTTCCCAACCTGCCTCCTGTTTCCAGGGGGACCTTCCCCACCACTCCCCGACCTCCCCGACCCCGCAGTGCTCACCTTCCTGGCCATGATGAGGCCCGAGGGTCTGTGCTGGACTTTGGTGACCACCCCGCCGTTGCCCGCGCCCAGCTCTGAGATCCTTTCGAAGTCATCGTCTTTGAGTTCGCCGACCTTGGCTTTCTGGGTGAGAAAGGCTTCCAGCCGCTTCTTCTGCTGCTCGTCAAGTTCCAGCTCCTCCAGCTTCTTCTGCAGGTCCACCAGGTTTGCCCTGCAGAGACCCCCCAGGGTAGGGGTTAGCTACCTAGGGAGACTCCATCTGGCCGTTTGCTATGTGGCCGTGGTGCATCGGCCCCCAGGAGGACACAGACTGGATTCCTGCACTTGAGGGGTTCATGGTGTAGAAGGAAAGGATCCATGCTGTGTACCCCCATAGACACACCAATGACCAGAATCCAGGGCGGCTCCCCGGGAACTGAGGACGCTGCCTTGATCCTGTCTCAACAAGTCTAGCAGACCTCAGGACCTCAAGGATAAGCTGCAGCTCAAAGGACCCAGGAAGCCTCCGTCTTTTTCTTTTCTTTTTCTTTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCTCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCCCTGCAACCTTGGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCCCGCCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCATGTTGGTCAGGCTGGTCTCCAACTCCTGACATTGAGTGATCCGCCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCATTGCACGCGGCCGGGAGACCTCCTTCCTAACGCACGAGCTCCGGACCATGTCGGGAGGAGACGAGGAAGCTGGGATCGGGTGAACGGAGCCCGGGCCAAGATGTCTGTCTTTGCAGGAGATAGAGGAACAAGCGTTCTGAGCAGCCTCAGAGCACAGAATGAGAACCAAGAGTAGAGGGCAGAAGGCTCAGCACAAAAGCTGCATCAGGTAGGCACGGTGGTGCACGTTTGCAGTCCCAGCTACTTGGGAGGCTGAGACACGAGAACTGCTTGAACCCGGGAGGGGGAGATTGCAGTGAACTGAGATCTTGCCACTGCACTCCAGCCTGGGCAGCAGAGGGAGGCTCTGTCTCAAAACAAAACAAACCAAAAAACAAAAAAAACAAAAAATAAGCATGACCAGCCTGGGCAACAAAGTGAGACCTATAGCCGAGCACAGTGGCTCATGCCTGTAGTTCTAGTTACTCAGGAGGCTGAGCCCAGGAGGTCGAGACTGCAGTGAGCCATGATCGTGACAATGTACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTCTACACAATAAAAAATTTCTAACAATTTAAACAAGCAAGTACATTGCACTTTATTGGGTGATTCAAGGAATCTTCAGAGGAAATTTCGACAGTAAGCTATTTTCACAAATGCCTTGACTCAGAACCAGATCCTGGAGTAACAGACAACTAAGCGCAATGCACACAGGAACCCATTGCTGTGCACAAGCAATGGAATGTAAACCATGCGCACAAATTAAAATCTTCTAGTACCCATGTTTAAAAAGAACAGGTGAACTCACTTCATTTATTTAGAGACAGGGTCCTGCTCTACCTCCCAAGCTGGGGTGCAGCGGCACGATTACAGCTCACTGCAGCCTCCAACTCCTGTCCTCAAGTGATCCTCCCACCTCAGCCTTCCTAGTAGCTAGGATCACAGGTGTGAGCCATCATGTCTGGCTCTTTTTAATTAATTAATTTTTATTATTATTATTATTTTCTGAGACAAAGTCTCATTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCACGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGAATTACAAGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCGCCATGTTGGTCAGGCTGCTCTTGAATTCCTGGGTTCAAGCCACCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGACATAAGCCACTGCACCTGGCTGAAATTAATTTTAATAACACATTTGATTTAACCCATCAAAAATGTTATCATTTTCAACGTACAACCAGTATGAAAAA
CTTGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCAGCGTTCTAGGTCTGAAAGAACACCGGTGAGGAGCTGAACACCCTGTCAACACTAAGTCCCCTACTTCTGTGTTTAAGAGCCACTGTCCCCAAGTGGTCACATCCTCCCTGTATCCCCTGGGCACTATTCTCAAACACAGAGCACAGAGGCTGCATCATGGCCCAGGAGCCCGGGATGACTAAGCACGGGGGCCGTCAGCACCAGGGCTTGCAGACTTTCAAAGGGTGGGTGACAGTCAGCTTTGTGTGTCTCCTCGGTGAGACCACGGTGCCCAGTTGTCAAACGCCAGTCTAGAGGTTGCTGGGAAGGTATGTTTTTAAGATGTGATTAACCTTTAAATTGGCAGACTCTGAGCAAAGCAGATTACTCCACCCCAGGGTGGGTGAGTCTCAGCCAATCAGCTGAAGGCCTTCAGGGAAAAGCCTGCCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAAGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAACCCCATCTCTACTAAAAAAACAAAAATTAACTGGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCAATTCCTTAGAATAAATCTCTCTCTACACATACACTCAAGTATCATTAAGGACAGGGATACACTGAGAAATCCCTCTCTGGGCGATGTCGTCACTGTGCAAACACTGGAAAGCCCATTCCACACCCAGGCTCCCATGCTCTGTACAGCGCAGTGCTGAGCTGCTGTCTGTTTATTTAAATATAGAGAACCGAGGCAGGCGGATCACCTGGGGTCAAGAGTTCCAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAACACAAAAAAATGAGCTGGGCCTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCCTTGAACCCAGGAGGCGGAGGTTGAAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCCGTCTCAAAAAGTAAAAATAAAAATAAAAATAAACATACAGAAGGCACAGCAAAAACATGGCCTGATCATCTTACGTCGCCACCGCTGCGTAGGCGGTCTGTCACTGGCTGAGCCATCGCCCTGAGGTGGCTGTACACATAGGCGCAAACACACACACGCTTCGTCTTCATCGCTTGTTTCTCTGGAGAACCATAACACACTCGCATTTCTGAAACCCCCACGTGCTAGCTTTCTGGGAATATGGATTTCAAGTGCCCTCCAGGGCAGAAAGTAGTCACTGGAGGGCACAGCTGTGTGTGGCTGGTGTGGCTGGCACGGCTCCCATCTGCCCAGAAGCTGGGCCCTTTCTCAGGACCTAGAGTCCCTGGTGGGGATGAGGGACAGAGCCTGGAGCTAATCAGAATGCAGAGACCCGGCTGCCTTCCCAACCTGCCTCCTGTTTCCAGGGGGACCTTCCCCACCACTCCCCGACCTCCCCGACCCCGCAGTGCTCACCTTCCTGGCCATGATGAGGCCCGAGGGTCTGTGCTGGACTTTGGTGACCACCCCGCCGTTGCCCGCGCCCAGCTCTGAGATCCTTTCGAAGTCATCGTCTTTGAGTTCGCCGACCTTGGCTTTCTGGGTGAGTAAGGCTTCCAGCCGCTTCTTCTGCTGCTCGTCAAGTTCCAGCTCCTCCAGCTTCTTCTGCAGGTCCACCAGGTTTGCCCTGCAGAGACCCCCCAGGGTAGGGGTTAGCTACCTAGGGAGACTCCATCTGGCCGTTTGCTATGTGGCCGTGGTGCATCGGCCCCCAGGAGGACACAGACTGGATTCCTGCACTTGAGGGGTTCATGGTGTAGAAGGAAAGGATCCATGCTGTGTACCCCCATAGACACACCAATGACCAGAATCCAGGGCGGCTCCCCGGGAACTGAGGACGCTGCCTTGATCCTGTCTCAACAAGTCTAGCAGACCTCAGGACCTCAAGGATAAGCTGCAGCTCAAAGGACCCAGGAAGCCTCCGTCTTTTTCTTTTCTTTTTCTTTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCTCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCCCTGCAACCTTGGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCCCGCCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCATGTTGGTCAGGCTGGTCTCCAACTCCTGACATTGAGTGATCCGCCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCATTGCACGCGGCCGGGAGACCTCCTTCCTAACGCACGAGCTCCGGACCATGTCGGGAGGAGACGAGGAAGCTGGGATCGGGTGAACGGAGCCCGGGCCAAGATGTCTGTCTTTGCAGGAGATAGAGGAACAAGCGTTCTGAGCAGCCTCAGAGCACAGAATGAGAACCAAGAGTAGAGGGCAGAAGGCTCAGCACAAAAGCTGCATCAGGTAGGCACGGTGGTGCACGTTTGCAGTCCCAGCTACTTGGGAGGCTGAGACACGAGAACTGCTTGAACCCGGGAGGGGGAGATTGCAGTGAACTGAGATCTTGCCACTGCACTCCAGCCTGGGCAGCAGAGGGAGGCTCTGTCTCAAAACAAAACAAACCAAAAAACAAAAAAAACAAAAAATAAGCATGACCAGCCTGGGCAACAAAGTGAGACCTATAGCCGAGCACAGTGGCTCATGCCTGTAGTTCTAGTTACTCAGGAGGCTGAGCCCAGGAGGTCGAGACTGCAGTGAGCCATGATCGTGACAATGTACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTCTACACAATAAAAAATTTCTAACAATTTAAACAAGCAAGTACATTGCACTTTATTGGGTGATTCAAGGAATCTTCAGAGGAAATTTCGACAGTAAGCTATTTTCACAAATGCCTTGACTCAGAACCAGATCCTGGAGTAACAGACAACTAAGCGCAATGCACACAGGAACCCATTGCTGTGCACAAGCAATGGAATGTAAACCATGCGCACAAATTAAAATCTTCTAGTACCCATGTTTAAAAAGAACAGGTGAACTCACTTCATTTATTTAGAGACAGGGTCCTGCTCTACCTCCCAAGCTGGGGTGCAGCGGCACGATTACAGCTCACTGCAGCCTCCAACTCCTGTCCTCAAGTGATCCTCCCACCTCAGCCTTCCTAGTAGCTAGGATCACAGGTGTGAGCCATCATGTCTGGCTCTTTTTAATTAATTAATTTTTATTATTATTATTATTTTCTGAGACAAAGTCTCATTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCACGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGAATTACAAGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCGCCATGTTGGTCAGGCTGCTCTTGAATTCCTGGGTTCAAGCCACCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGACATAAGCCACTGCACCTGGCTGAAATTAATTTTAATAACACATTTGATTTAACCCATCAAAAATGTTATCATTTTCAACGTACAACCAGTATGAAAAA
Task1_train_26322
This alteration occurs within gene MAP2K2 (mitogen-activated protein kinase kinase 2) located on Chromosome 19. Is it associated with a disease or is it a benign variant?
Pathogenic; RASopathy
TTGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCAGCGTTCTAGGTCTGAAAGAACACCGGTGAGGAGCTGAACACCCTGTCAACACTAAGTCCCCTACTTCTGTGTTTAAGAGCCACTGTCCCCAAGTGGTCACATCCTCCCTGTATCCCCTGGGCACTATTCTCAAACACAGAGCACAGAGGCTGCATCATGGCCCAGGAGCCCGGGATGACTAAGCACGGGGGCCGTCAGCACCAGGGCTTGCAGACTTTCAAAGGGTGGGTGACAGTCAGCTTTGTGTGTCTCCTCGGTGAGACCACGGTGCCCAGTTGTCAAACGCCAGTCTAGAGGTTGCTGGGAAGGTATGTTTTTAAGATGTGATTAACCTTTAAATTGGCAGACTCTGAGCAAAGCAGATTACTCCACCCCAGGGTGGGTGAGTCTCAGCCAATCAGCTGAAGGCCTTCAGGGAAAAGCCTGCCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAAGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAACCCCATCTCTACTAAAAAAACAAAAATTAACTGGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCAATTCCTTAGAATAAATCTCTCTCTACACATACACTCAAGTATCATTAAGGACAGGGATACACTGAGAAATCCCTCTCTGGGCGATGTCGTCACTGTGCAAACACTGGAAAGCCCATTCCACACCCAGGCTCCCATGCTCTGTACAGCGCAGTGCTGAGCTGCTGTCTGTTTATTTAAATATAGAGAACCGAGGCAGGCGGATCACCTGGGGTCAAGAGTTCCAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAACACAAAAAAATGAGCTGGGCCTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCCTTGAACCCAGGAGGCGGAGGTTGAAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCCGTCTCAAAAAGTAAAAATAAAAATAAAAATAAACATACAGAAGGCACAGCAAAAACATGGCCTGATCATCTTACGTCGCCACCGCTGCGTAGGCGGTCTGTCACTGGCTGAGCCATCGCCCTGAGGTGGCTGTACACATAGGCGCAAACACACACACGCTTCGTCTTCATCGCTTGTTTCTCTGGAGAACCATAACACACTCGCATTTCTGAAACCCCCACGTGCTAGCTTTCTGGGAATATGGATTTCAAGTGCCCTCCAGGGCAGAAAGTAGTCACTGGAGGGCACAGCTGTGTGTGGCTGGTGTGGCTGGCACGGCTCCCATCTGCCCAGAAGCTGGGCCCTTTCTCAGGACCTAGAGTCCCTGGTGGGGATGAGGGACAGAGCCTGGAGCTAATCAGAATGCAGAGACCCGGCTGCCTTCCCAACCTGCCTCCTGTTTCCAGGGGGACCTTCCCCACCACTCCCCGACCTCCCCGACCCCGCAGTGCTCACCTTCCTGGCCATGATGAGGCCCGAGGGTCTGTGCTGGACTTTGGTGACCACCCCGCCGTTGCCCGCGCCCAGCTCTGAGATCCTTTCGAAGTCATCGTCTTTGAGTTCGCCGACCTTGGCTTTCTGGGTGAGAAAGGCTTCCAGCCGCTTCTTCTGCTGCTCGTCAAGTTCCAGCTCCTCCAGCTTCTTCTGCAGGTCCACCAGGTTTGCCCTGCAGAGACCCCCCAGGGTAGGGGTTAGCTACCTAGGGAGACTCCATCTGGCCGTTTGCTATGTGGCCGTGGTGCATCGGCCCCCAGGAGGACACAGACTGGATTCCTGCACTTGAGGGGTTCATGGTGTAGAAGGAAAGGATCCATGCTGTGTACCCCCATAGACACACCAATGACCAGAATCCAGGGCGGCTCCCCGGGAACTGAGGACGCTGCCTTGATCCTGTCTCAACAAGTCTAGCAGACCTCAGGACCTCAAGGATAAGCTGCAGCTCAAAGGACCCAGGAAGCCTCCGTCTTTTTCTTTTCTTTTTCTTTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCTCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCCCTGCAACCTTGGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCCCGCCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCATGTTGGTCAGGCTGGTCTCCAACTCCTGACATTGAGTGATCCGCCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCATTGCACGCGGCCGGGAGACCTCCTTCCTAACGCACGAGCTCCGGACCATGTCGGGAGGAGACGAGGAAGCTGGGATCGGGTGAACGGAGCCCGGGCCAAGATGTCTGTCTTTGCAGGAGATAGAGGAACAAGCGTTCTGAGCAGCCTCAGAGCACAGAATGAGAACCAAGAGTAGAGGGCAGAAGGCTCAGCACAAAAGCTGCATCAGGTAGGCACGGTGGTGCACGTTTGCAGTCCCAGCTACTTGGGAGGCTGAGACACGAGAACTGCTTGAACCCGGGAGGGGGAGATTGCAGTGAACTGAGATCTTGCCACTGCACTCCAGCCTGGGCAGCAGAGGGAGGCTCTGTCTCAAAACAAAACAAACCAAAAAACAAAAAAAACAAAAAATAAGCATGACCAGCCTGGGCAACAAAGTGAGACCTATAGCCGAGCACAGTGGCTCATGCCTGTAGTTCTAGTTACTCAGGAGGCTGAGCCCAGGAGGTCGAGACTGCAGTGAGCCATGATCGTGACAATGTACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTCTACACAATAAAAAATTTCTAACAATTTAAACAAGCAAGTACATTGCACTTTATTGGGTGATTCAAGGAATCTTCAGAGGAAATTTCGACAGTAAGCTATTTTCACAAATGCCTTGACTCAGAACCAGATCCTGGAGTAACAGACAACTAAGCGCAATGCACACAGGAACCCATTGCTGTGCACAAGCAATGGAATGTAAACCATGCGCACAAATTAAAATCTTCTAGTACCCATGTTTAAAAAGAACAGGTGAACTCACTTCATTTATTTAGAGACAGGGTCCTGCTCTACCTCCCAAGCTGGGGTGCAGCGGCACGATTACAGCTCACTGCAGCCTCCAACTCCTGTCCTCAAGTGATCCTCCCACCTCAGCCTTCCTAGTAGCTAGGATCACAGGTGTGAGCCATCATGTCTGGCTCTTTTTAATTAATTAATTTTTATTATTATTATTATTTTCTGAGACAAAGTCTCATTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCACGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGAATTACAAGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCGCCATGTTGGTCAGGCTGCTCTTGAATTCCTGGGTTCAAGCCACCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGACATAAGCCACTGCACCTGGCTGAAATTAATTTTAATAACACATTTGATTTAACCCATCAAAAATGTTATCATTTTCAACGTACAACCAGTATGAAAAAT
TTGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCAGCGTTCTAGGTCTGAAAGAACACCGGTGAGGAGCTGAACACCCTGTCAACACTAAGTCCCCTACTTCTGTGTTTAAGAGCCACTGTCCCCAAGTGGTCACATCCTCCCTGTATCCCCTGGGCACTATTCTCAAACACAGAGCACAGAGGCTGCATCATGGCCCAGGAGCCCGGGATGACTAAGCACGGGGGCCGTCAGCACCAGGGCTTGCAGACTTTCAAAGGGTGGGTGACAGTCAGCTTTGTGTGTCTCCTCGGTGAGACCACGGTGCCCAGTTGTCAAACGCCAGTCTAGAGGTTGCTGGGAAGGTATGTTTTTAAGATGTGATTAACCTTTAAATTGGCAGACTCTGAGCAAAGCAGATTACTCCACCCCAGGGTGGGTGAGTCTCAGCCAATCAGCTGAAGGCCTTCAGGGAAAAGCCTGCCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAAGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAACCCCATCTCTACTAAAAAAACAAAAATTAACTGGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCAATTCCTTAGAATAAATCTCTCTCTACACATACACTCAAGTATCATTAAGGACAGGGATACACTGAGAAATCCCTCTCTGGGCGATGTCGTCACTGTGCAAACACTGGAAAGCCCATTCCACACCCAGGCTCCCATGCTCTGTACAGCGCAGTGCTGAGCTGCTGTCTGTTTATTTAAATATAGAGAACCGAGGCAGGCGGATCACCTGGGGTCAAGAGTTCCAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAACACAAAAAAATGAGCTGGGCCTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCCTTGAACCCAGGAGGCGGAGGTTGAAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCCGTCTCAAAAAGTAAAAATAAAAATAAAAATAAACATACAGAAGGCACAGCAAAAACATGGCCTGATCATCTTACGTCGCCACCGCTGCGTAGGCGGTCTGTCACTGGCTGAGCCATCGCCCTGAGGTGGCTGTACACATAGGCGCAAACACACACACGCTTCGTCTTCATCGCTTGTTTCTCTGGAGAACCATAACACACTCGCATTTCTGAAACCCCCACGTGCTAGCTTTCTGGGAATATGGATTTCAAGTGCCCTCCAGGGCAGAAAGTAGTCACTGGAGGGCACAGCTGTGTGTGGCTGGTGTGGCTGGCACGGCTCCCATCTGCCCAGAAGCTGGGCCCTTTCTCAGGACCTAGAGTCCCTGGTGGGGATGAGGGACAGAGCCTGGAGCTAATCAGAATGCAGAGACCCGGCTGCCTTCCCAACCTGCCTCCTGTTTCCAGGGGGACCTTCCCCACCACTCCCCGACCTCCCCGACCCCGCAGTGCTCACCTTCCTGGCCATGATGAGGCCCGAGGGTCTGTGCTGGACTTTGGTGACCACCCCGCCGTTGCCCGCGCCCAGCTCTGAGATCCTTTCGAAGTCATCGTCTTTGAGTTCGCCGACCTTGGCTTTCTGGGTGAGACAGGCTTCCAGCCGCTTCTTCTGCTGCTCGTCAAGTTCCAGCTCCTCCAGCTTCTTCTGCAGGTCCACCAGGTTTGCCCTGCAGAGACCCCCCAGGGTAGGGGTTAGCTACCTAGGGAGACTCCATCTGGCCGTTTGCTATGTGGCCGTGGTGCATCGGCCCCCAGGAGGACACAGACTGGATTCCTGCACTTGAGGGGTTCATGGTGTAGAAGGAAAGGATCCATGCTGTGTACCCCCATAGACACACCAATGACCAGAATCCAGGGCGGCTCCCCGGGAACTGAGGACGCTGCCTTGATCCTGTCTCAACAAGTCTAGCAGACCTCAGGACCTCAAGGATAAGCTGCAGCTCAAAGGACCCAGGAAGCCTCCGTCTTTTTCTTTTCTTTTTCTTTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCTCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCCCTGCAACCTTGGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCCCGCCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCATGTTGGTCAGGCTGGTCTCCAACTCCTGACATTGAGTGATCCGCCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCATTGCACGCGGCCGGGAGACCTCCTTCCTAACGCACGAGCTCCGGACCATGTCGGGAGGAGACGAGGAAGCTGGGATCGGGTGAACGGAGCCCGGGCCAAGATGTCTGTCTTTGCAGGAGATAGAGGAACAAGCGTTCTGAGCAGCCTCAGAGCACAGAATGAGAACCAAGAGTAGAGGGCAGAAGGCTCAGCACAAAAGCTGCATCAGGTAGGCACGGTGGTGCACGTTTGCAGTCCCAGCTACTTGGGAGGCTGAGACACGAGAACTGCTTGAACCCGGGAGGGGGAGATTGCAGTGAACTGAGATCTTGCCACTGCACTCCAGCCTGGGCAGCAGAGGGAGGCTCTGTCTCAAAACAAAACAAACCAAAAAACAAAAAAAACAAAAAATAAGCATGACCAGCCTGGGCAACAAAGTGAGACCTATAGCCGAGCACAGTGGCTCATGCCTGTAGTTCTAGTTACTCAGGAGGCTGAGCCCAGGAGGTCGAGACTGCAGTGAGCCATGATCGTGACAATGTACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTCTACACAATAAAAAATTTCTAACAATTTAAACAAGCAAGTACATTGCACTTTATTGGGTGATTCAAGGAATCTTCAGAGGAAATTTCGACAGTAAGCTATTTTCACAAATGCCTTGACTCAGAACCAGATCCTGGAGTAACAGACAACTAAGCGCAATGCACACAGGAACCCATTGCTGTGCACAAGCAATGGAATGTAAACCATGCGCACAAATTAAAATCTTCTAGTACCCATGTTTAAAAAGAACAGGTGAACTCACTTCATTTATTTAGAGACAGGGTCCTGCTCTACCTCCCAAGCTGGGGTGCAGCGGCACGATTACAGCTCACTGCAGCCTCCAACTCCTGTCCTCAAGTGATCCTCCCACCTCAGCCTTCCTAGTAGCTAGGATCACAGGTGTGAGCCATCATGTCTGGCTCTTTTTAATTAATTAATTTTTATTATTATTATTATTTTCTGAGACAAAGTCTCATTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCACGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGAATTACAAGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCGCCATGTTGGTCAGGCTGCTCTTGAATTCCTGGGTTCAAGCCACCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGACATAAGCCACTGCACCTGGCTGAAATTAATTTTAATAACACATTTGATTTAACCCATCAAAAATGTTATCATTTTCAACGTACAACCAGTATGAAAAAT
Task1_train_26323
Given a variant located on Chromosome 19 and affecting MAP2K2 (mitogen-activated protein kinase kinase 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Cardio-facio-cutaneous syndrome
TGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCAGCGTTCTAGGTCTGAAAGAACACCGGTGAGGAGCTGAACACCCTGTCAACACTAAGTCCCCTACTTCTGTGTTTAAGAGCCACTGTCCCCAAGTGGTCACATCCTCCCTGTATCCCCTGGGCACTATTCTCAAACACAGAGCACAGAGGCTGCATCATGGCCCAGGAGCCCGGGATGACTAAGCACGGGGGCCGTCAGCACCAGGGCTTGCAGACTTTCAAAGGGTGGGTGACAGTCAGCTTTGTGTGTCTCCTCGGTGAGACCACGGTGCCCAGTTGTCAAACGCCAGTCTAGAGGTTGCTGGGAAGGTATGTTTTTAAGATGTGATTAACCTTTAAATTGGCAGACTCTGAGCAAAGCAGATTACTCCACCCCAGGGTGGGTGAGTCTCAGCCAATCAGCTGAAGGCCTTCAGGGAAAAGCCTGCCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAAGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAACCCCATCTCTACTAAAAAAACAAAAATTAACTGGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCAATTCCTTAGAATAAATCTCTCTCTACACATACACTCAAGTATCATTAAGGACAGGGATACACTGAGAAATCCCTCTCTGGGCGATGTCGTCACTGTGCAAACACTGGAAAGCCCATTCCACACCCAGGCTCCCATGCTCTGTACAGCGCAGTGCTGAGCTGCTGTCTGTTTATTTAAATATAGAGAACCGAGGCAGGCGGATCACCTGGGGTCAAGAGTTCCAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAACACAAAAAAATGAGCTGGGCCTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCCTTGAACCCAGGAGGCGGAGGTTGAAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCCGTCTCAAAAAGTAAAAATAAAAATAAAAATAAACATACAGAAGGCACAGCAAAAACATGGCCTGATCATCTTACGTCGCCACCGCTGCGTAGGCGGTCTGTCACTGGCTGAGCCATCGCCCTGAGGTGGCTGTACACATAGGCGCAAACACACACACGCTTCGTCTTCATCGCTTGTTTCTCTGGAGAACCATAACACACTCGCATTTCTGAAACCCCCACGTGCTAGCTTTCTGGGAATATGGATTTCAAGTGCCCTCCAGGGCAGAAAGTAGTCACTGGAGGGCACAGCTGTGTGTGGCTGGTGTGGCTGGCACGGCTCCCATCTGCCCAGAAGCTGGGCCCTTTCTCAGGACCTAGAGTCCCTGGTGGGGATGAGGGACAGAGCCTGGAGCTAATCAGAATGCAGAGACCCGGCTGCCTTCCCAACCTGCCTCCTGTTTCCAGGGGGACCTTCCCCACCACTCCCCGACCTCCCCGACCCCGCAGTGCTCACCTTCCTGGCCATGATGAGGCCCGAGGGTCTGTGCTGGACTTTGGTGACCACCCCGCCGTTGCCCGCGCCCAGCTCTGAGATCCTTTCGAAGTCATCGTCTTTGAGTTCGCCGACCTTGGCTTTCTGGGTGAGAAAGGCTTCCAGCCGCTTCTTCTGCTGCTCGTCAAGTTCCAGCTCCTCCAGCTTCTTCTGCAGGTCCACCAGGTTTGCCCTGCAGAGACCCCCCAGGGTAGGGGTTAGCTACCTAGGGAGACTCCATCTGGCCGTTTGCTATGTGGCCGTGGTGCATCGGCCCCCAGGAGGACACAGACTGGATTCCTGCACTTGAGGGGTTCATGGTGTAGAAGGAAAGGATCCATGCTGTGTACCCCCATAGACACACCAATGACCAGAATCCAGGGCGGCTCCCCGGGAACTGAGGACGCTGCCTTGATCCTGTCTCAACAAGTCTAGCAGACCTCAGGACCTCAAGGATAAGCTGCAGCTCAAAGGACCCAGGAAGCCTCCGTCTTTTTCTTTTCTTTTTCTTTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCTCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCCCTGCAACCTTGGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCCCGCCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCATGTTGGTCAGGCTGGTCTCCAACTCCTGACATTGAGTGATCCGCCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCATTGCACGCGGCCGGGAGACCTCCTTCCTAACGCACGAGCTCCGGACCATGTCGGGAGGAGACGAGGAAGCTGGGATCGGGTGAACGGAGCCCGGGCCAAGATGTCTGTCTTTGCAGGAGATAGAGGAACAAGCGTTCTGAGCAGCCTCAGAGCACAGAATGAGAACCAAGAGTAGAGGGCAGAAGGCTCAGCACAAAAGCTGCATCAGGTAGGCACGGTGGTGCACGTTTGCAGTCCCAGCTACTTGGGAGGCTGAGACACGAGAACTGCTTGAACCCGGGAGGGGGAGATTGCAGTGAACTGAGATCTTGCCACTGCACTCCAGCCTGGGCAGCAGAGGGAGGCTCTGTCTCAAAACAAAACAAACCAAAAAACAAAAAAAACAAAAAATAAGCATGACCAGCCTGGGCAACAAAGTGAGACCTATAGCCGAGCACAGTGGCTCATGCCTGTAGTTCTAGTTACTCAGGAGGCTGAGCCCAGGAGGTCGAGACTGCAGTGAGCCATGATCGTGACAATGTACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTCTACACAATAAAAAATTTCTAACAATTTAAACAAGCAAGTACATTGCACTTTATTGGGTGATTCAAGGAATCTTCAGAGGAAATTTCGACAGTAAGCTATTTTCACAAATGCCTTGACTCAGAACCAGATCCTGGAGTAACAGACAACTAAGCGCAATGCACACAGGAACCCATTGCTGTGCACAAGCAATGGAATGTAAACCATGCGCACAAATTAAAATCTTCTAGTACCCATGTTTAAAAAGAACAGGTGAACTCACTTCATTTATTTAGAGACAGGGTCCTGCTCTACCTCCCAAGCTGGGGTGCAGCGGCACGATTACAGCTCACTGCAGCCTCCAACTCCTGTCCTCAAGTGATCCTCCCACCTCAGCCTTCCTAGTAGCTAGGATCACAGGTGTGAGCCATCATGTCTGGCTCTTTTTAATTAATTAATTTTTATTATTATTATTATTTTCTGAGACAAAGTCTCATTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCACGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGAATTACAAGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCGCCATGTTGGTCAGGCTGCTCTTGAATTCCTGGGTTCAAGCCACCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGACATAAGCCACTGCACCTGGCTGAAATTAATTTTAATAACACATTTGATTTAACCCATCAAAAATGTTATCATTTTCAACGTACAACCAGTATGAAAAATG
TGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCAGCGTTCTAGGTCTGAAAGAACACCGGTGAGGAGCTGAACACCCTGTCAACACTAAGTCCCCTACTTCTGTGTTTAAGAGCCACTGTCCCCAAGTGGTCACATCCTCCCTGTATCCCCTGGGCACTATTCTCAAACACAGAGCACAGAGGCTGCATCATGGCCCAGGAGCCCGGGATGACTAAGCACGGGGGCCGTCAGCACCAGGGCTTGCAGACTTTCAAAGGGTGGGTGACAGTCAGCTTTGTGTGTCTCCTCGGTGAGACCACGGTGCCCAGTTGTCAAACGCCAGTCTAGAGGTTGCTGGGAAGGTATGTTTTTAAGATGTGATTAACCTTTAAATTGGCAGACTCTGAGCAAAGCAGATTACTCCACCCCAGGGTGGGTGAGTCTCAGCCAATCAGCTGAAGGCCTTCAGGGAAAAGCCTGCCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAAGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAACCCCATCTCTACTAAAAAAACAAAAATTAACTGGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCAATTCCTTAGAATAAATCTCTCTCTACACATACACTCAAGTATCATTAAGGACAGGGATACACTGAGAAATCCCTCTCTGGGCGATGTCGTCACTGTGCAAACACTGGAAAGCCCATTCCACACCCAGGCTCCCATGCTCTGTACAGCGCAGTGCTGAGCTGCTGTCTGTTTATTTAAATATAGAGAACCGAGGCAGGCGGATCACCTGGGGTCAAGAGTTCCAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAACACAAAAAAATGAGCTGGGCCTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCCTTGAACCCAGGAGGCGGAGGTTGAAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCCGTCTCAAAAAGTAAAAATAAAAATAAAAATAAACATACAGAAGGCACAGCAAAAACATGGCCTGATCATCTTACGTCGCCACCGCTGCGTAGGCGGTCTGTCACTGGCTGAGCCATCGCCCTGAGGTGGCTGTACACATAGGCGCAAACACACACACGCTTCGTCTTCATCGCTTGTTTCTCTGGAGAACCATAACACACTCGCATTTCTGAAACCCCCACGTGCTAGCTTTCTGGGAATATGGATTTCAAGTGCCCTCCAGGGCAGAAAGTAGTCACTGGAGGGCACAGCTGTGTGTGGCTGGTGTGGCTGGCACGGCTCCCATCTGCCCAGAAGCTGGGCCCTTTCTCAGGACCTAGAGTCCCTGGTGGGGATGAGGGACAGAGCCTGGAGCTAATCAGAATGCAGAGACCCGGCTGCCTTCCCAACCTGCCTCCTGTTTCCAGGGGGACCTTCCCCACCACTCCCCGACCTCCCCGACCCCGCAGTGCTCACCTTCCTGGCCATGATGAGGCCCGAGGGTCTGTGCTGGACTTTGGTGACCACCCCGCCGTTGCCCGCGCCCAGCTCTGAGATCCTTTCGAAGTCATCGTCTTTGAGTTCGCCGACCTTGGCTTTCTGGGTGAGAACGGCTTCCAGCCGCTTCTTCTGCTGCTCGTCAAGTTCCAGCTCCTCCAGCTTCTTCTGCAGGTCCACCAGGTTTGCCCTGCAGAGACCCCCCAGGGTAGGGGTTAGCTACCTAGGGAGACTCCATCTGGCCGTTTGCTATGTGGCCGTGGTGCATCGGCCCCCAGGAGGACACAGACTGGATTCCTGCACTTGAGGGGTTCATGGTGTAGAAGGAAAGGATCCATGCTGTGTACCCCCATAGACACACCAATGACCAGAATCCAGGGCGGCTCCCCGGGAACTGAGGACGCTGCCTTGATCCTGTCTCAACAAGTCTAGCAGACCTCAGGACCTCAAGGATAAGCTGCAGCTCAAAGGACCCAGGAAGCCTCCGTCTTTTTCTTTTCTTTTTCTTTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCTCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCCCTGCAACCTTGGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCCCGCCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCATGTTGGTCAGGCTGGTCTCCAACTCCTGACATTGAGTGATCCGCCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCATTGCACGCGGCCGGGAGACCTCCTTCCTAACGCACGAGCTCCGGACCATGTCGGGAGGAGACGAGGAAGCTGGGATCGGGTGAACGGAGCCCGGGCCAAGATGTCTGTCTTTGCAGGAGATAGAGGAACAAGCGTTCTGAGCAGCCTCAGAGCACAGAATGAGAACCAAGAGTAGAGGGCAGAAGGCTCAGCACAAAAGCTGCATCAGGTAGGCACGGTGGTGCACGTTTGCAGTCCCAGCTACTTGGGAGGCTGAGACACGAGAACTGCTTGAACCCGGGAGGGGGAGATTGCAGTGAACTGAGATCTTGCCACTGCACTCCAGCCTGGGCAGCAGAGGGAGGCTCTGTCTCAAAACAAAACAAACCAAAAAACAAAAAAAACAAAAAATAAGCATGACCAGCCTGGGCAACAAAGTGAGACCTATAGCCGAGCACAGTGGCTCATGCCTGTAGTTCTAGTTACTCAGGAGGCTGAGCCCAGGAGGTCGAGACTGCAGTGAGCCATGATCGTGACAATGTACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTCTACACAATAAAAAATTTCTAACAATTTAAACAAGCAAGTACATTGCACTTTATTGGGTGATTCAAGGAATCTTCAGAGGAAATTTCGACAGTAAGCTATTTTCACAAATGCCTTGACTCAGAACCAGATCCTGGAGTAACAGACAACTAAGCGCAATGCACACAGGAACCCATTGCTGTGCACAAGCAATGGAATGTAAACCATGCGCACAAATTAAAATCTTCTAGTACCCATGTTTAAAAAGAACAGGTGAACTCACTTCATTTATTTAGAGACAGGGTCCTGCTCTACCTCCCAAGCTGGGGTGCAGCGGCACGATTACAGCTCACTGCAGCCTCCAACTCCTGTCCTCAAGTGATCCTCCCACCTCAGCCTTCCTAGTAGCTAGGATCACAGGTGTGAGCCATCATGTCTGGCTCTTTTTAATTAATTAATTTTTATTATTATTATTATTTTCTGAGACAAAGTCTCATTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCACGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGAATTACAAGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCGCCATGTTGGTCAGGCTGCTCTTGAATTCCTGGGTTCAAGCCACCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGACATAAGCCACTGCACCTGGCTGAAATTAATTTTAATAACACATTTGATTTAACCCATCAAAAATGTTATCATTTTCAACGTACAACCAGTATGAAAAATG
Task1_train_26324
This variant lies on Chromosome 19 and affects the gene MAP2K2 (mitogen-activated protein kinase kinase 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; RASopathy
TGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCAGCGTTCTAGGTCTGAAAGAACACCGGTGAGGAGCTGAACACCCTGTCAACACTAAGTCCCCTACTTCTGTGTTTAAGAGCCACTGTCCCCAAGTGGTCACATCCTCCCTGTATCCCCTGGGCACTATTCTCAAACACAGAGCACAGAGGCTGCATCATGGCCCAGGAGCCCGGGATGACTAAGCACGGGGGCCGTCAGCACCAGGGCTTGCAGACTTTCAAAGGGTGGGTGACAGTCAGCTTTGTGTGTCTCCTCGGTGAGACCACGGTGCCCAGTTGTCAAACGCCAGTCTAGAGGTTGCTGGGAAGGTATGTTTTTAAGATGTGATTAACCTTTAAATTGGCAGACTCTGAGCAAAGCAGATTACTCCACCCCAGGGTGGGTGAGTCTCAGCCAATCAGCTGAAGGCCTTCAGGGAAAAGCCTGCCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAAGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAACCCCATCTCTACTAAAAAAACAAAAATTAACTGGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCAATTCCTTAGAATAAATCTCTCTCTACACATACACTCAAGTATCATTAAGGACAGGGATACACTGAGAAATCCCTCTCTGGGCGATGTCGTCACTGTGCAAACACTGGAAAGCCCATTCCACACCCAGGCTCCCATGCTCTGTACAGCGCAGTGCTGAGCTGCTGTCTGTTTATTTAAATATAGAGAACCGAGGCAGGCGGATCACCTGGGGTCAAGAGTTCCAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAACACAAAAAAATGAGCTGGGCCTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCCTTGAACCCAGGAGGCGGAGGTTGAAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCCGTCTCAAAAAGTAAAAATAAAAATAAAAATAAACATACAGAAGGCACAGCAAAAACATGGCCTGATCATCTTACGTCGCCACCGCTGCGTAGGCGGTCTGTCACTGGCTGAGCCATCGCCCTGAGGTGGCTGTACACATAGGCGCAAACACACACACGCTTCGTCTTCATCGCTTGTTTCTCTGGAGAACCATAACACACTCGCATTTCTGAAACCCCCACGTGCTAGCTTTCTGGGAATATGGATTTCAAGTGCCCTCCAGGGCAGAAAGTAGTCACTGGAGGGCACAGCTGTGTGTGGCTGGTGTGGCTGGCACGGCTCCCATCTGCCCAGAAGCTGGGCCCTTTCTCAGGACCTAGAGTCCCTGGTGGGGATGAGGGACAGAGCCTGGAGCTAATCAGAATGCAGAGACCCGGCTGCCTTCCCAACCTGCCTCCTGTTTCCAGGGGGACCTTCCCCACCACTCCCCGACCTCCCCGACCCCGCAGTGCTCACCTTCCTGGCCATGATGAGGCCCGAGGGTCTGTGCTGGACTTTGGTGACCACCCCGCCGTTGCCCGCGCCCAGCTCTGAGATCCTTTCGAAGTCATCGTCTTTGAGTTCGCCGACCTTGGCTTTCTGGGTGAGAAAGGCTTCCAGCCGCTTCTTCTGCTGCTCGTCAAGTTCCAGCTCCTCCAGCTTCTTCTGCAGGTCCACCAGGTTTGCCCTGCAGAGACCCCCCAGGGTAGGGGTTAGCTACCTAGGGAGACTCCATCTGGCCGTTTGCTATGTGGCCGTGGTGCATCGGCCCCCAGGAGGACACAGACTGGATTCCTGCACTTGAGGGGTTCATGGTGTAGAAGGAAAGGATCCATGCTGTGTACCCCCATAGACACACCAATGACCAGAATCCAGGGCGGCTCCCCGGGAACTGAGGACGCTGCCTTGATCCTGTCTCAACAAGTCTAGCAGACCTCAGGACCTCAAGGATAAGCTGCAGCTCAAAGGACCCAGGAAGCCTCCGTCTTTTTCTTTTCTTTTTCTTTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCTCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCCCTGCAACCTTGGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCCCGCCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCATGTTGGTCAGGCTGGTCTCCAACTCCTGACATTGAGTGATCCGCCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCATTGCACGCGGCCGGGAGACCTCCTTCCTAACGCACGAGCTCCGGACCATGTCGGGAGGAGACGAGGAAGCTGGGATCGGGTGAACGGAGCCCGGGCCAAGATGTCTGTCTTTGCAGGAGATAGAGGAACAAGCGTTCTGAGCAGCCTCAGAGCACAGAATGAGAACCAAGAGTAGAGGGCAGAAGGCTCAGCACAAAAGCTGCATCAGGTAGGCACGGTGGTGCACGTTTGCAGTCCCAGCTACTTGGGAGGCTGAGACACGAGAACTGCTTGAACCCGGGAGGGGGAGATTGCAGTGAACTGAGATCTTGCCACTGCACTCCAGCCTGGGCAGCAGAGGGAGGCTCTGTCTCAAAACAAAACAAACCAAAAAACAAAAAAAACAAAAAATAAGCATGACCAGCCTGGGCAACAAAGTGAGACCTATAGCCGAGCACAGTGGCTCATGCCTGTAGTTCTAGTTACTCAGGAGGCTGAGCCCAGGAGGTCGAGACTGCAGTGAGCCATGATCGTGACAATGTACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTCTACACAATAAAAAATTTCTAACAATTTAAACAAGCAAGTACATTGCACTTTATTGGGTGATTCAAGGAATCTTCAGAGGAAATTTCGACAGTAAGCTATTTTCACAAATGCCTTGACTCAGAACCAGATCCTGGAGTAACAGACAACTAAGCGCAATGCACACAGGAACCCATTGCTGTGCACAAGCAATGGAATGTAAACCATGCGCACAAATTAAAATCTTCTAGTACCCATGTTTAAAAAGAACAGGTGAACTCACTTCATTTATTTAGAGACAGGGTCCTGCTCTACCTCCCAAGCTGGGGTGCAGCGGCACGATTACAGCTCACTGCAGCCTCCAACTCCTGTCCTCAAGTGATCCTCCCACCTCAGCCTTCCTAGTAGCTAGGATCACAGGTGTGAGCCATCATGTCTGGCTCTTTTTAATTAATTAATTTTTATTATTATTATTATTTTCTGAGACAAAGTCTCATTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCACGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGAATTACAAGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCGCCATGTTGGTCAGGCTGCTCTTGAATTCCTGGGTTCAAGCCACCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGACATAAGCCACTGCACCTGGCTGAAATTAATTTTAATAACACATTTGATTTAACCCATCAAAAATGTTATCATTTTCAACGTACAACCAGTATGAAAAATG
TGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCAGCGTTCTAGGTCTGAAAGAACACCGGTGAGGAGCTGAACACCCTGTCAACACTAAGTCCCCTACTTCTGTGTTTAAGAGCCACTGTCCCCAAGTGGTCACATCCTCCCTGTATCCCCTGGGCACTATTCTCAAACACAGAGCACAGAGGCTGCATCATGGCCCAGGAGCCCGGGATGACTAAGCACGGGGGCCGTCAGCACCAGGGCTTGCAGACTTTCAAAGGGTGGGTGACAGTCAGCTTTGTGTGTCTCCTCGGTGAGACCACGGTGCCCAGTTGTCAAACGCCAGTCTAGAGGTTGCTGGGAAGGTATGTTTTTAAGATGTGATTAACCTTTAAATTGGCAGACTCTGAGCAAAGCAGATTACTCCACCCCAGGGTGGGTGAGTCTCAGCCAATCAGCTGAAGGCCTTCAGGGAAAAGCCTGCCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAAGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAACCCCATCTCTACTAAAAAAACAAAAATTAACTGGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCAATTCCTTAGAATAAATCTCTCTCTACACATACACTCAAGTATCATTAAGGACAGGGATACACTGAGAAATCCCTCTCTGGGCGATGTCGTCACTGTGCAAACACTGGAAAGCCCATTCCACACCCAGGCTCCCATGCTCTGTACAGCGCAGTGCTGAGCTGCTGTCTGTTTATTTAAATATAGAGAACCGAGGCAGGCGGATCACCTGGGGTCAAGAGTTCCAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAACACAAAAAAATGAGCTGGGCCTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCCTTGAACCCAGGAGGCGGAGGTTGAAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCCGTCTCAAAAAGTAAAAATAAAAATAAAAATAAACATACAGAAGGCACAGCAAAAACATGGCCTGATCATCTTACGTCGCCACCGCTGCGTAGGCGGTCTGTCACTGGCTGAGCCATCGCCCTGAGGTGGCTGTACACATAGGCGCAAACACACACACGCTTCGTCTTCATCGCTTGTTTCTCTGGAGAACCATAACACACTCGCATTTCTGAAACCCCCACGTGCTAGCTTTCTGGGAATATGGATTTCAAGTGCCCTCCAGGGCAGAAAGTAGTCACTGGAGGGCACAGCTGTGTGTGGCTGGTGTGGCTGGCACGGCTCCCATCTGCCCAGAAGCTGGGCCCTTTCTCAGGACCTAGAGTCCCTGGTGGGGATGAGGGACAGAGCCTGGAGCTAATCAGAATGCAGAGACCCGGCTGCCTTCCCAACCTGCCTCCTGTTTCCAGGGGGACCTTCCCCACCACTCCCCGACCTCCCCGACCCCGCAGTGCTCACCTTCCTGGCCATGATGAGGCCCGAGGGTCTGTGCTGGACTTTGGTGACCACCCCGCCGTTGCCCGCGCCCAGCTCTGAGATCCTTTCGAAGTCATCGTCTTTGAGTTCGCCGACCTTGGCTTTCTGGGTGAGAAGGGCTTCCAGCCGCTTCTTCTGCTGCTCGTCAAGTTCCAGCTCCTCCAGCTTCTTCTGCAGGTCCACCAGGTTTGCCCTGCAGAGACCCCCCAGGGTAGGGGTTAGCTACCTAGGGAGACTCCATCTGGCCGTTTGCTATGTGGCCGTGGTGCATCGGCCCCCAGGAGGACACAGACTGGATTCCTGCACTTGAGGGGTTCATGGTGTAGAAGGAAAGGATCCATGCTGTGTACCCCCATAGACACACCAATGACCAGAATCCAGGGCGGCTCCCCGGGAACTGAGGACGCTGCCTTGATCCTGTCTCAACAAGTCTAGCAGACCTCAGGACCTCAAGGATAAGCTGCAGCTCAAAGGACCCAGGAAGCCTCCGTCTTTTTCTTTTCTTTTTCTTTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCTCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCCCTGCAACCTTGGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCCCGCCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCATGTTGGTCAGGCTGGTCTCCAACTCCTGACATTGAGTGATCCGCCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCATTGCACGCGGCCGGGAGACCTCCTTCCTAACGCACGAGCTCCGGACCATGTCGGGAGGAGACGAGGAAGCTGGGATCGGGTGAACGGAGCCCGGGCCAAGATGTCTGTCTTTGCAGGAGATAGAGGAACAAGCGTTCTGAGCAGCCTCAGAGCACAGAATGAGAACCAAGAGTAGAGGGCAGAAGGCTCAGCACAAAAGCTGCATCAGGTAGGCACGGTGGTGCACGTTTGCAGTCCCAGCTACTTGGGAGGCTGAGACACGAGAACTGCTTGAACCCGGGAGGGGGAGATTGCAGTGAACTGAGATCTTGCCACTGCACTCCAGCCTGGGCAGCAGAGGGAGGCTCTGTCTCAAAACAAAACAAACCAAAAAACAAAAAAAACAAAAAATAAGCATGACCAGCCTGGGCAACAAAGTGAGACCTATAGCCGAGCACAGTGGCTCATGCCTGTAGTTCTAGTTACTCAGGAGGCTGAGCCCAGGAGGTCGAGACTGCAGTGAGCCATGATCGTGACAATGTACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTCTACACAATAAAAAATTTCTAACAATTTAAACAAGCAAGTACATTGCACTTTATTGGGTGATTCAAGGAATCTTCAGAGGAAATTTCGACAGTAAGCTATTTTCACAAATGCCTTGACTCAGAACCAGATCCTGGAGTAACAGACAACTAAGCGCAATGCACACAGGAACCCATTGCTGTGCACAAGCAATGGAATGTAAACCATGCGCACAAATTAAAATCTTCTAGTACCCATGTTTAAAAAGAACAGGTGAACTCACTTCATTTATTTAGAGACAGGGTCCTGCTCTACCTCCCAAGCTGGGGTGCAGCGGCACGATTACAGCTCACTGCAGCCTCCAACTCCTGTCCTCAAGTGATCCTCCCACCTCAGCCTTCCTAGTAGCTAGGATCACAGGTGTGAGCCATCATGTCTGGCTCTTTTTAATTAATTAATTTTTATTATTATTATTATTTTCTGAGACAAAGTCTCATTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCACGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGAATTACAAGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCGCCATGTTGGTCAGGCTGCTCTTGAATTCCTGGGTTCAAGCCACCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGACATAAGCCACTGCACCTGGCTGAAATTAATTTTAATAACACATTTGATTTAACCCATCAAAAATGTTATCATTTTCAACGTACAACCAGTATGAAAAATG
Task1_train_26325
The gene MAP2K2 (mitogen-activated protein kinase kinase 2), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Cardiofaciocutaneous syndrome 4
TGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCAGCGTTCTAGGTCTGAAAGAACACCGGTGAGGAGCTGAACACCCTGTCAACACTAAGTCCCCTACTTCTGTGTTTAAGAGCCACTGTCCCCAAGTGGTCACATCCTCCCTGTATCCCCTGGGCACTATTCTCAAACACAGAGCACAGAGGCTGCATCATGGCCCAGGAGCCCGGGATGACTAAGCACGGGGGCCGTCAGCACCAGGGCTTGCAGACTTTCAAAGGGTGGGTGACAGTCAGCTTTGTGTGTCTCCTCGGTGAGACCACGGTGCCCAGTTGTCAAACGCCAGTCTAGAGGTTGCTGGGAAGGTATGTTTTTAAGATGTGATTAACCTTTAAATTGGCAGACTCTGAGCAAAGCAGATTACTCCACCCCAGGGTGGGTGAGTCTCAGCCAATCAGCTGAAGGCCTTCAGGGAAAAGCCTGCCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAAGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAACCCCATCTCTACTAAAAAAACAAAAATTAACTGGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCAATTCCTTAGAATAAATCTCTCTCTACACATACACTCAAGTATCATTAAGGACAGGGATACACTGAGAAATCCCTCTCTGGGCGATGTCGTCACTGTGCAAACACTGGAAAGCCCATTCCACACCCAGGCTCCCATGCTCTGTACAGCGCAGTGCTGAGCTGCTGTCTGTTTATTTAAATATAGAGAACCGAGGCAGGCGGATCACCTGGGGTCAAGAGTTCCAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAACACAAAAAAATGAGCTGGGCCTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCCTTGAACCCAGGAGGCGGAGGTTGAAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCCGTCTCAAAAAGTAAAAATAAAAATAAAAATAAACATACAGAAGGCACAGCAAAAACATGGCCTGATCATCTTACGTCGCCACCGCTGCGTAGGCGGTCTGTCACTGGCTGAGCCATCGCCCTGAGGTGGCTGTACACATAGGCGCAAACACACACACGCTTCGTCTTCATCGCTTGTTTCTCTGGAGAACCATAACACACTCGCATTTCTGAAACCCCCACGTGCTAGCTTTCTGGGAATATGGATTTCAAGTGCCCTCCAGGGCAGAAAGTAGTCACTGGAGGGCACAGCTGTGTGTGGCTGGTGTGGCTGGCACGGCTCCCATCTGCCCAGAAGCTGGGCCCTTTCTCAGGACCTAGAGTCCCTGGTGGGGATGAGGGACAGAGCCTGGAGCTAATCAGAATGCAGAGACCCGGCTGCCTTCCCAACCTGCCTCCTGTTTCCAGGGGGACCTTCCCCACCACTCCCCGACCTCCCCGACCCCGCAGTGCTCACCTTCCTGGCCATGATGAGGCCCGAGGGTCTGTGCTGGACTTTGGTGACCACCCCGCCGTTGCCCGCGCCCAGCTCTGAGATCCTTTCGAAGTCATCGTCTTTGAGTTCGCCGACCTTGGCTTTCTGGGTGAGAAAGGCTTCCAGCCGCTTCTTCTGCTGCTCGTCAAGTTCCAGCTCCTCCAGCTTCTTCTGCAGGTCCACCAGGTTTGCCCTGCAGAGACCCCCCAGGGTAGGGGTTAGCTACCTAGGGAGACTCCATCTGGCCGTTTGCTATGTGGCCGTGGTGCATCGGCCCCCAGGAGGACACAGACTGGATTCCTGCACTTGAGGGGTTCATGGTGTAGAAGGAAAGGATCCATGCTGTGTACCCCCATAGACACACCAATGACCAGAATCCAGGGCGGCTCCCCGGGAACTGAGGACGCTGCCTTGATCCTGTCTCAACAAGTCTAGCAGACCTCAGGACCTCAAGGATAAGCTGCAGCTCAAAGGACCCAGGAAGCCTCCGTCTTTTTCTTTTCTTTTTCTTTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCTCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCCCTGCAACCTTGGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCCCGCCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCATGTTGGTCAGGCTGGTCTCCAACTCCTGACATTGAGTGATCCGCCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCATTGCACGCGGCCGGGAGACCTCCTTCCTAACGCACGAGCTCCGGACCATGTCGGGAGGAGACGAGGAAGCTGGGATCGGGTGAACGGAGCCCGGGCCAAGATGTCTGTCTTTGCAGGAGATAGAGGAACAAGCGTTCTGAGCAGCCTCAGAGCACAGAATGAGAACCAAGAGTAGAGGGCAGAAGGCTCAGCACAAAAGCTGCATCAGGTAGGCACGGTGGTGCACGTTTGCAGTCCCAGCTACTTGGGAGGCTGAGACACGAGAACTGCTTGAACCCGGGAGGGGGAGATTGCAGTGAACTGAGATCTTGCCACTGCACTCCAGCCTGGGCAGCAGAGGGAGGCTCTGTCTCAAAACAAAACAAACCAAAAAACAAAAAAAACAAAAAATAAGCATGACCAGCCTGGGCAACAAAGTGAGACCTATAGCCGAGCACAGTGGCTCATGCCTGTAGTTCTAGTTACTCAGGAGGCTGAGCCCAGGAGGTCGAGACTGCAGTGAGCCATGATCGTGACAATGTACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTCTACACAATAAAAAATTTCTAACAATTTAAACAAGCAAGTACATTGCACTTTATTGGGTGATTCAAGGAATCTTCAGAGGAAATTTCGACAGTAAGCTATTTTCACAAATGCCTTGACTCAGAACCAGATCCTGGAGTAACAGACAACTAAGCGCAATGCACACAGGAACCCATTGCTGTGCACAAGCAATGGAATGTAAACCATGCGCACAAATTAAAATCTTCTAGTACCCATGTTTAAAAAGAACAGGTGAACTCACTTCATTTATTTAGAGACAGGGTCCTGCTCTACCTCCCAAGCTGGGGTGCAGCGGCACGATTACAGCTCACTGCAGCCTCCAACTCCTGTCCTCAAGTGATCCTCCCACCTCAGCCTTCCTAGTAGCTAGGATCACAGGTGTGAGCCATCATGTCTGGCTCTTTTTAATTAATTAATTTTTATTATTATTATTATTTTCTGAGACAAAGTCTCATTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCACGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGAATTACAAGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCGCCATGTTGGTCAGGCTGCTCTTGAATTCCTGGGTTCAAGCCACCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGACATAAGCCACTGCACCTGGCTGAAATTAATTTTAATAACACATTTGATTTAACCCATCAAAAATGTTATCATTTTCAACGTACAACCAGTATGAAAAATG
TGCCTTTTTCCACCCAGTGCTTCGGGCGGAGGCGGACCTGAGCTTTCCAAGGCTGCTCCGGTTTGGAAGAGGCTGCCTGCAGTACGGGGACAGAAATAGCAAGTCCGCGGCTGCACACTTCAGGAGGGAGGGAGGGCAGCACTCTAGAGGCCAGAAGACAGAGCTGCAGAGCTAAATCCCCGCAGGAGTTGAGCCGCTGCTCCCGAGGAAGGCAGGGCCCTCAAGCACTGCTGCCACCTGCGCAGACCCACGGGACTAGGTGCAGTCACGTTCCCCCAGTTTGGGGAACTACAGGATGGTGGGCTTCCAGGAAGAGGCAGCGTTCTAGGTCTGAAAGAACACCGGTGAGGAGCTGAACACCCTGTCAACACTAAGTCCCCTACTTCTGTGTTTAAGAGCCACTGTCCCCAAGTGGTCACATCCTCCCTGTATCCCCTGGGCACTATTCTCAAACACAGAGCACAGAGGCTGCATCATGGCCCAGGAGCCCGGGATGACTAAGCACGGGGGCCGTCAGCACCAGGGCTTGCAGACTTTCAAAGGGTGGGTGACAGTCAGCTTTGTGTGTCTCCTCGGTGAGACCACGGTGCCCAGTTGTCAAACGCCAGTCTAGAGGTTGCTGGGAAGGTATGTTTTTAAGATGTGATTAACCTTTAAATTGGCAGACTCTGAGCAAAGCAGATTACTCCACCCCAGGGTGGGTGAGTCTCAGCCAATCAGCTGAAGGCCTTCAGGGAAAAGCCTGCCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAAGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAACCCCATCTCTACTAAAAAAACAAAAATTAACTGGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCAATTCCTTAGAATAAATCTCTCTCTACACATACACTCAAGTATCATTAAGGACAGGGATACACTGAGAAATCCCTCTCTGGGCGATGTCGTCACTGTGCAAACACTGGAAAGCCCATTCCACACCCAGGCTCCCATGCTCTGTACAGCGCAGTGCTGAGCTGCTGTCTGTTTATTTAAATATAGAGAACCGAGGCAGGCGGATCACCTGGGGTCAAGAGTTCCAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAACACAAAAAAATGAGCTGGGCCTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCCTTGAACCCAGGAGGCGGAGGTTGAAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCCGTCTCAAAAAGTAAAAATAAAAATAAAAATAAACATACAGAAGGCACAGCAAAAACATGGCCTGATCATCTTACGTCGCCACCGCTGCGTAGGCGGTCTGTCACTGGCTGAGCCATCGCCCTGAGGTGGCTGTACACATAGGCGCAAACACACACACGCTTCGTCTTCATCGCTTGTTTCTCTGGAGAACCATAACACACTCGCATTTCTGAAACCCCCACGTGCTAGCTTTCTGGGAATATGGATTTCAAGTGCCCTCCAGGGCAGAAAGTAGTCACTGGAGGGCACAGCTGTGTGTGGCTGGTGTGGCTGGCACGGCTCCCATCTGCCCAGAAGCTGGGCCCTTTCTCAGGACCTAGAGTCCCTGGTGGGGATGAGGGACAGAGCCTGGAGCTAATCAGAATGCAGAGACCCGGCTGCCTTCCCAACCTGCCTCCTGTTTCCAGGGGGACCTTCCCCACCACTCCCCGACCTCCCCGACCCCGCAGTGCTCACCTTCCTGGCCATGATGAGGCCCGAGGGTCTGTGCTGGACTTTGGTGACCACCCCGCCGTTGCCCGCGCCCAGCTCTGAGATCCTTTCGAAGTCATCGTCTTTGAGTTCGCCGACCTTGGCTTTCTGGGTGAGAAGGGCTTCCAGCCGCTTCTTCTGCTGCTCGTCAAGTTCCAGCTCCTCCAGCTTCTTCTGCAGGTCCACCAGGTTTGCCCTGCAGAGACCCCCCAGGGTAGGGGTTAGCTACCTAGGGAGACTCCATCTGGCCGTTTGCTATGTGGCCGTGGTGCATCGGCCCCCAGGAGGACACAGACTGGATTCCTGCACTTGAGGGGTTCATGGTGTAGAAGGAAAGGATCCATGCTGTGTACCCCCATAGACACACCAATGACCAGAATCCAGGGCGGCTCCCCGGGAACTGAGGACGCTGCCTTGATCCTGTCTCAACAAGTCTAGCAGACCTCAGGACCTCAAGGATAAGCTGCAGCTCAAAGGACCCAGGAAGCCTCCGTCTTTTTCTTTTCTTTTTCTTTTTTTTTTGAGACGGAGTCTCCCTCTGTTGCTCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCCCTGCAACCTTGGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCCCGCCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTCGCCATGTTGGTCAGGCTGGTCTCCAACTCCTGACATTGAGTGATCCGCCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCATTGCACGCGGCCGGGAGACCTCCTTCCTAACGCACGAGCTCCGGACCATGTCGGGAGGAGACGAGGAAGCTGGGATCGGGTGAACGGAGCCCGGGCCAAGATGTCTGTCTTTGCAGGAGATAGAGGAACAAGCGTTCTGAGCAGCCTCAGAGCACAGAATGAGAACCAAGAGTAGAGGGCAGAAGGCTCAGCACAAAAGCTGCATCAGGTAGGCACGGTGGTGCACGTTTGCAGTCCCAGCTACTTGGGAGGCTGAGACACGAGAACTGCTTGAACCCGGGAGGGGGAGATTGCAGTGAACTGAGATCTTGCCACTGCACTCCAGCCTGGGCAGCAGAGGGAGGCTCTGTCTCAAAACAAAACAAACCAAAAAACAAAAAAAACAAAAAATAAGCATGACCAGCCTGGGCAACAAAGTGAGACCTATAGCCGAGCACAGTGGCTCATGCCTGTAGTTCTAGTTACTCAGGAGGCTGAGCCCAGGAGGTCGAGACTGCAGTGAGCCATGATCGTGACAATGTACTCCAGCCTGGGTGACAGAGCAAGACCTTGTTTCTACACAATAAAAAATTTCTAACAATTTAAACAAGCAAGTACATTGCACTTTATTGGGTGATTCAAGGAATCTTCAGAGGAAATTTCGACAGTAAGCTATTTTCACAAATGCCTTGACTCAGAACCAGATCCTGGAGTAACAGACAACTAAGCGCAATGCACACAGGAACCCATTGCTGTGCACAAGCAATGGAATGTAAACCATGCGCACAAATTAAAATCTTCTAGTACCCATGTTTAAAAAGAACAGGTGAACTCACTTCATTTATTTAGAGACAGGGTCCTGCTCTACCTCCCAAGCTGGGGTGCAGCGGCACGATTACAGCTCACTGCAGCCTCCAACTCCTGTCCTCAAGTGATCCTCCCACCTCAGCCTTCCTAGTAGCTAGGATCACAGGTGTGAGCCATCATGTCTGGCTCTTTTTAATTAATTAATTTTTATTATTATTATTATTTTCTGAGACAAAGTCTCATTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTTGGCTCACTGCAACCTCCACCTCACGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGAATTACAAGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCGCCATGTTGGTCAGGCTGCTCTTGAATTCCTGGGTTCAAGCCACCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGACATAAGCCACTGCACCTGGCTGAAATTAATTTTAATAACACATTTGATTTAACCCATCAAAAATGTTATCATTTTCAACGTACAACCAGTATGAAAAATG
Task1_train_26326
This variant lies on Chromosome 19 and affects the gene DPP9, LOC126862841 (dipeptidyl peptidase 9| BRD4-independent group 4 enhancer GRCh37_chr19:4703720-4704919). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Hatipoglu immunodeficiency syndrome
AGGGTGCCAGAGGCAGAGTCCCTGCCATCAGCACCCCCCGCCCCCTGCAGCACCGGGGCCTGAAGATGGGCACCGAGGGCTCTGAAACCAGAACCCCGGCTCTGCCATTCGCTAGACCTTATGCCAGTCCCAACTCTCTGGGCTTCAGTTTCCTCCCCTGTGCAGTGGGAAGCAGAGCAGGGCTACTCCCAGCATGAACTGGCATGGGAAGTGGCCACGTGGGGTGTAACGGGCTGAACTGTGTCCCCTCTTAGGGCAACAGCGATGTCTACAGTCGTTAAGGAACTCTCTAGGTGTTGGTATTGACAGACTGTGGAGGTGGTTTGAGGTGAAAGGAGTAAGGCGCAGGAAGGACACAGCCTGTGATTCCAGGAGGAAAAGCACGCCCGGGAGCATGTTGAAAAATGGAAGGGACCTACCTTCCCAGGAGGCTGTGGGGCACCACCAGTACCCAGTGAAGCGGTCGAACTCTTCCTGTATGACGAAGGTGGCCACACCCGCAGACTTGGGGTCATCCAGGACATTGGATAAACCTAGGGGGAGGGACGGAGAGCATCAACAAGGGGTGAGCAGCCTGCTAACACTGGGGACAGCCAGGGGCTCAAGGAGAGCATGAGAGAGAGGGAGAGAGAAGGAGGGAAGGAAAGGGAAGGAGAGGGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGCTCGGAGCCGACTGCTTTCAAGCAGGGTTGCTCCACCCCACACTGTGGACACTGGGGCCCTCTTGGTCTCTGGGGTGGGGCCGTCCAGGGCACAGCAGGGTGCTGAGCAGTGTCCCTGGCCTCCACTCACCCCATGGCAAGCCAGGAGCACCCCCGCCCAAGTGTGCCGTCTAAAAACGTCTCTGGACATCGCCGAGTGGCCAGGTTTGGAAAGTGGGGCCCGGGCTTATGGGACGGAGAGGCAGCGATCAGTGACTTGAAACCAAGACAAGGAAGGATGGGGTCACTTCTGATGAGCAAGGGAGTGGAGAGAACACGCAGGAAGCAGGTGAGATGTGGCCTTGACTTGATGGGGCTGGACAGGCAGAGTGGAGGGGAAGGTGTGCAGGGGCAGAAATGCCCAGGGGCACCTGGAAGAGGGTCCAGAGCACCGTGGCTGGGCTGACGCCTGCAGCAGAAAACCACAGAGCGGCAGGGTGCGGTAGCTCATGCCTGTAATCTCAGGACCTTGGGAGGCCGAGGCAGGTAGATCATTTGAGGTCAGGAGCTCAAGAGCAGCCTGGCCAACATGGGGAAACCTCGTCACAACTAAAAATACAAAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGCGGAAGTTGCAGTGAGCCGAGATCATACCACTGCAGTCCACCTGGGCACTCCCGCCTGCGCTCCCGCCTGGGCAACTGCACTCCCACATGGGTGAGACTCTCTCAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAACTACAGAGCGGCAGGGACGCCAGGACCTCCCGGGAGACATGGTAGGCTACAGAAGGTATGCACGGGAGGGTGGCTTGTGAGGGGTGTGTGCAGGAAGACCCTGGCTGTGGGGGCAATGGGGCCTTTCTGGAAGCTGGCCAGGTGGCTATGGTGGCCGTGCACAGGAGGGGCTGGCCCCACCTTGGTGGCAGAAGGTCAGCCGCCGCTCCTCGCCTGTCTCGATGTTGGCCACCCACAGGTCGCTGTTATTGATGAAGGAGAAGAAGGCAGGGTCGGCAGGGCAGATTTTGGGGTCCATCCGGGGCCCTGAGCACTGGGTCTTGATTTCCAGCGGTTTCATAGGGGACACCTGAGGACAGAGACGCCCAGCTCAGGGGGAGGGGCCCTCCACGCCACCCCCGCACACAGCCAGGGCCAGGGCTCACCATGAAGCCGTTCTTGCCGCCGTCGCGGCAGTGGAAGAGGCTGTTGCTGGCCTGGAAGAGGAAGAGGCCACTCTCGCTGTGGAAGTCGTAGGAGGTGATGCCGAAGACCCCCAGGCGTTTCCGCTCCCTCAGCAGCTCCTCCTCCCGAGAGTAGACCCCATGGTGGGGCGTGGCCTGGAAACATACAGGGGACAGGGGGCAGCGTCAGTGGGCAAAGAGGATCTCCCGCTGGCCAGGGCAGAGATCCTCGGGCTGGGGCATTCCCAGGGAATCTGACTTCGGGCCTCGCCAGAGAGAACTTCCTGTACTGGGCAGAATTGGCTGCCGGAGCCCTTGACACAGTGGGTGGCCAAAGATTGCCAGCGAACCTGGCCCTGCAGGACTGGCTGAGTGTCCTAGGAGGTGGCAGGGGAGACTCTGGGGCCAGAAGCCTCCTCACTTCCTGAGTTCCCTCCCCACAGACCCTCTCCATAGCAGATGGGGGCCCCTGGGAGGGGCTGTCCCTGCCCCACACCACCGGAGTACTCTCTCCGGGTCCCTAGTGCCATTCTTACAGACTCCCCACCCTCCTACCCTATTCACAATCCCTTCCCATCAAGAGCTTTCAATTTCGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGAAATTCGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACGCGCCTGTAGTCCCAGCTACTTGGGACGCTGAGGCAGAAGAATCACTTGAACCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTATAGCCTGAGTGACAGAGTGAGACTTTGTCTCAAAAAAAAAAGCAGAATCAAAAGCAAAATTACCCCTACACTCTGTGGAAAGCAGTGTAAACACAAGGACACTGGCTTGGGGACTCAGAGACAGGCCAAAGTGAGGGCCAGTGAACCAGTGGTGGAGAAAGTGGGAGTGTCACGATCTCAGCCACTGTTAGATATCATTATTGTTACATTGTTATGTTTATGTTGTTACTATGTTATAATGTTATGTTATTTTTATTGCTATATTGTTACTATTTTAGAGACTGGGATTCGCTGTCTCCCAGGCTGGAGTGCAATGGTGAGATCACGGCTCACTGTAGCCTTGCCCTCCTGGGTTCAAGAGATCCTCCCATCTCAGCCTACCAATTAGCTGGAACTACAAGGCGAGTGCCACCAGGCCTGGCTAATTTTATTTTTTGTAGAGACAGGCTCTTGCTGTGTTCCCCAGTCTGGTCTCAAATTCTTGGGCTCAAGCAATCCTCTTGCCTCGGCCTCCCAATCATCAAACACAAAAACACGCCAATCAATGCAAAAGGCATTTTTCCTCCCTCAACTATCCCCAGAGAGCCAACACTGGATGAGATTGATGATTAACCAGTCTCTCTAAAAGGGCCTCAAGCCAAGTTAATTCCCAATCTTTGGTGATGCCGTTAAAAGGAAGAGATGCTTTTGGTAAGAGTTTCTCTGTCGCTTGAGTACAGGTGGTCAGGGGGAGGAGGGAAGGCTCACCCGCCAGAGTCCACAGGACGGAGGGTTTGTGGGAACTCACAGCCGGTGGGGCAGAGAGGTGACCGAAGGCATGTATGGCCTGTGGGGCTGGCCTTTGCCACCTCCTCGCCCACGGTAGGGCCCACGCCTAATAGCACAGCTTACCTGGAAATGATCCAGCATCTGCTTCCAGGACAGGAGCAGCAGAGCCTCTTTCCGGACCTTCTTGGGAATCTCAGAGTAGAGGAGGGAGTTCTCTCGGCTGCCATATGGCATTCCTAAAGGGAGAAAGGAAACACCCAGAACGGGTACCCTGGCTCAGGATGGGGAGACGCCCTCAGCCTGCAGCTGGGCCCAGCTGGTTCCCTCTGCTTCTAGAACATTCTGCCAGGCCGCCGGCGGGACAGCCCTCCCCGGAAAGCTATGGATCCTGGGTTTGCTTAAGTAGGCAGTAGGGCCTTCCACCTGAGATATTTCTGCTGAATCTCACGGCCTGAATTACCGAAGAAACAGCACACAAGAGGCTGGGCATGGTGGCTCTTGTTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGAGGACTGCC
AGGGTGCCAGAGGCAGAGTCCCTGCCATCAGCACCCCCCGCCCCCTGCAGCACCGGGGCCTGAAGATGGGCACCGAGGGCTCTGAAACCAGAACCCCGGCTCTGCCATTCGCTAGACCTTATGCCAGTCCCAACTCTCTGGGCTTCAGTTTCCTCCCCTGTGCAGTGGGAAGCAGAGCAGGGCTACTCCCAGCATGAACTGGCATGGGAAGTGGCCACGTGGGGTGTAACGGGCTGAACTGTGTCCCCTCTTAGGGCAACAGCGATGTCTACAGTCGTTAAGGAACTCTCTAGGTGTTGGTATTGACAGACTGTGGAGGTGGTTTGAGGTGAAAGGAGTAAGGCGCAGGAAGGACACAGCCTGTGATTCCAGGAGGAAAAGCACGCCCGGGAGCATGTTGAAAAATGGAAGGGACCTACCTTCCCAGGAGGCTGTGGGGCACCACCAGTACCCAGTGAAGCGGTCGAACTCTTCCTGTATGACGAAGGTGGCCACACCCGCAGACTTGGGGTCATCCAGGACATTGGATAAACCTAGGGGGAGGGACGGAGAGCATCAACAAGGGGTGAGCAGCCTGCTAACACTGGGGACAGCCAGGGGCTCAAGGAGAGCATGAGAGAGAGGGAGAGAGAAGGAGGGAAGGAAAGGGAAGGAGAGGGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGCTCGGAGCCGACTGCTTTCAAGCAGGGTTGCTCCACCCCACACTGTGGACACTGGGGCCCTCTTGGTCTCTGGGGTGGGGCCGTCCAGGGCACAGCAGGGTGCTGAGCAGTGTCCCTGGCCTCCACTCACCCCATGGCAAGCCAGGAGCACCCCCGCCCAAGTGTGCCGTCTAAAAACGTCTCTGGACATCGCCGAGTGGCCAGGTTTGGAAAGTGGGGCCCGGGCTTATGGGACGGAGAGGCAGCGATCAGTGACTTGAAACCAAGACAAGGAAGGATGGGGTCACTTCTGATGAGCAAGGGAGTGGAGAGAACACGCAGGAAGCAGGTGAGATGTGGCCTTGACTTGATGGGGCTGGACAGGCAGAGTGGAGGGGAAGGTGTGCAGGGGCAGAAATGCCCAGGGGCACCTGGAAGAGGGTCCAGAGCACCGTGGCTGGGCTGACGCCTGCAGCAGAAAACCACAGAGCGGCAGGGTGCGGTAGCTCATGCCTGTAATCTCAGGACCTTGGGAGGCCGAGGCAGGTAGATCATTTGAGGTCAGGAGCTCAAGAGCAGCCTGGCCAACATGGGGAAACCTCGTCACAACTAAAAATACAAAAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGCGGAAGTTGCAGTGAGCCGAGATCATACCACTGCAGTCCACCTGGGCACTCCCGCCTGCGCTCCCGCCTGGGCAACTGCACTCCCACATGGGTGAGACTCTCTCAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAACTACAGAGCGGCAGGGACGCCAGGACCTCCCGGGAGACATGGTAGGCTACAGAAGGTATGCACGGGAGGGTGGCTTGTGAGGGGTGTGTGCAGGAAGACCCTGGCTGTGGGGGCAATGGGGCCTTTCTGGAAGCTGGCCAGGTGGCTATGGTGGCCGTGCACAGGAGGGGCTGGCCCCACCTTGGTGGCAGAAGGTCAGCCGCCGCTCCTCGCCTGTCTCGATGTTGGCCACCCACAGGTCGCTGTTATTGATGAAGGAGAAGAAGGCAGGGTCGGCAGGGCAGATTTTGGGGTCCATCCGGGGCCCTGAGCACTGGGTCTTGATTTCCAGCGGTTTCATAGGGGACACCTGAGGACAGAGACGCCCAGCTCAGGGGGAGGGGCCCTCCACGCCACCCCCGCACACAGCCAGGGCCAGGGCTCACCATGAAGCCGTTCTTGCCGCCGTCGCGGCAGTGGAAGAGGCTGTTGCTGGCCTGGAAGAGGAAGAGGCCACTCTCGCTGTGGAAGTCGTAGGAGGTGATGCTGAAGACCCCCAGGCGTTTCCGCTCCCTCAGCAGCTCCTCCTCCCGAGAGTAGACCCCATGGTGGGGCGTGGCCTGGAAACATACAGGGGACAGGGGGCAGCGTCAGTGGGCAAAGAGGATCTCCCGCTGGCCAGGGCAGAGATCCTCGGGCTGGGGCATTCCCAGGGAATCTGACTTCGGGCCTCGCCAGAGAGAACTTCCTGTACTGGGCAGAATTGGCTGCCGGAGCCCTTGACACAGTGGGTGGCCAAAGATTGCCAGCGAACCTGGCCCTGCAGGACTGGCTGAGTGTCCTAGGAGGTGGCAGGGGAGACTCTGGGGCCAGAAGCCTCCTCACTTCCTGAGTTCCCTCCCCACAGACCCTCTCCATAGCAGATGGGGGCCCCTGGGAGGGGCTGTCCCTGCCCCACACCACCGGAGTACTCTCTCCGGGTCCCTAGTGCCATTCTTACAGACTCCCCACCCTCCTACCCTATTCACAATCCCTTCCCATCAAGAGCTTTCAATTTCGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGAAATTCGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACGCGCCTGTAGTCCCAGCTACTTGGGACGCTGAGGCAGAAGAATCACTTGAACCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTATAGCCTGAGTGACAGAGTGAGACTTTGTCTCAAAAAAAAAAGCAGAATCAAAAGCAAAATTACCCCTACACTCTGTGGAAAGCAGTGTAAACACAAGGACACTGGCTTGGGGACTCAGAGACAGGCCAAAGTGAGGGCCAGTGAACCAGTGGTGGAGAAAGTGGGAGTGTCACGATCTCAGCCACTGTTAGATATCATTATTGTTACATTGTTATGTTTATGTTGTTACTATGTTATAATGTTATGTTATTTTTATTGCTATATTGTTACTATTTTAGAGACTGGGATTCGCTGTCTCCCAGGCTGGAGTGCAATGGTGAGATCACGGCTCACTGTAGCCTTGCCCTCCTGGGTTCAAGAGATCCTCCCATCTCAGCCTACCAATTAGCTGGAACTACAAGGCGAGTGCCACCAGGCCTGGCTAATTTTATTTTTTGTAGAGACAGGCTCTTGCTGTGTTCCCCAGTCTGGTCTCAAATTCTTGGGCTCAAGCAATCCTCTTGCCTCGGCCTCCCAATCATCAAACACAAAAACACGCCAATCAATGCAAAAGGCATTTTTCCTCCCTCAACTATCCCCAGAGAGCCAACACTGGATGAGATTGATGATTAACCAGTCTCTCTAAAAGGGCCTCAAGCCAAGTTAATTCCCAATCTTTGGTGATGCCGTTAAAAGGAAGAGATGCTTTTGGTAAGAGTTTCTCTGTCGCTTGAGTACAGGTGGTCAGGGGGAGGAGGGAAGGCTCACCCGCCAGAGTCCACAGGACGGAGGGTTTGTGGGAACTCACAGCCGGTGGGGCAGAGAGGTGACCGAAGGCATGTATGGCCTGTGGGGCTGGCCTTTGCCACCTCCTCGCCCACGGTAGGGCCCACGCCTAATAGCACAGCTTACCTGGAAATGATCCAGCATCTGCTTCCAGGACAGGAGCAGCAGAGCCTCTTTCCGGACCTTCTTGGGAATCTCAGAGTAGAGGAGGGAGTTCTCTCGGCTGCCATATGGCATTCCTAAAGGGAGAAAGGAAACACCCAGAACGGGTACCCTGGCTCAGGATGGGGAGACGCCCTCAGCCTGCAGCTGGGCCCAGCTGGTTCCCTCTGCTTCTAGAACATTCTGCCAGGCCGCCGGCGGGACAGCCCTCCCCGGAAAGCTATGGATCCTGGGTTTGCTTAAGTAGGCAGTAGGGCCTTCCACCTGAGATATTTCTGCTGAATCTCACGGCCTGAATTACCGAAGAAACAGCACACAAGAGGCTGGGCATGGTGGCTCTTGTTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGAGGACTGCC
Task1_train_26327
This genomic variant is located on Chromosome 19, within the KDM4B (lysine demethylase 4B) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Intellectual developmental disorder, autosomal dominant 65
CCCAGAAGGAGCAGAGTGTTTCATTCCCTGTGCGGAGGGGTCTTTAATCCCACAAAGGTGCTTTGGATTGGGATTAAAATTTCTCATCTTTATGTAAATCATAAAAGCCCATTTAAAAAAGAGGAATGCACCCCTGTCTAGACAGTGGAAGACTCTCTGAGGACGACAGAGTTGAAGGTGCTGGGGTCGCCTTGGCTGGGGACCCTGGGAGCATGCCCAGAAATTAATTATTTGTGTCCTGTTAGATTAGAGGCTCCGTGATGTTCGCCTCTTCTCTGGCTCCTGCCCCCTCCTTATTTATTTTTATTTTTATTTTTATTTTTTTTAATTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCCGTGGCGCAATCTTGGTTCATTGCAACCTCCACTTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCACCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTCGTAGAGGCGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGACGTGAGCCACTGCACCCGGCCTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTCTCGCCCAGGCTGGAGTGCAGTGGCACCATCTTGGCTCACTGCAGCCTTTGCCTCCCAGGTTCAAATGATTCTTTTGCGTCAGCCTCCCGAGTAGCTGGGATTACAGCCTCCTGAGTAGCTGGTATTTTGTATTTTTGGTAGAGGAGGGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCGCGCCTGGCTTCTTTATTTCATTAAAAAACAAAGTGGCCTTTCAGCTGGAAGGGGCTGTAGTGGAGCAGGGGCCGTCTCCCACCCTCTGAGCTTTTCCTTGTCTTGCTTCTGCCCTGGGAGGGTCTCGGGGAGAGACCATATCATGTGTCCTCTCATCTGTGTGACTGTTCTAGAACGGGAGCTGTTGGCCTTGTTACTCTAGAGTTGGGGTCGAGGATGGGACTTGACCATCCTCAGCTGGCACTCAGCTGTGTGCCCTCAAGTCCCTGAGGCCCTGTCCTCGTCCCCTTCGCTTGGAAATTGAGGTTTTTGTTTTGCCGGAGGCCTTGGGAGTGGGCTGGGTGGTGTCCCCGTTGGCACTGGGGCTTCTCGCTCCCCCTCAAGGCTGCGGCTCCTGGTGCCCACCCTCCCTGATGGGAAGAGAGTCCCAACATCGCAGGTCTCCAGCTTCTGGTACGGCATGAGCGGGATGCCACCCCCACTTCGCTTCGTGTGTTTGCACACTTTCATCTTATGTCTTTCTTATTCATGATGGAGCCTTGGTGATCTTTCAAATGTAAAATGTGTAAAAATAAAACTTACAAAGTCGGTGACAAATGCAGCTTTTCTCATTTCCAAAGCTGCTTTTTCCCTGTTGGCTCCCAGTGCCGGGAAAGGGTGACGTGGGCCTGGAGACCGTGACGTGGGCCTGGAGAGCGGGCTGGCAGCTCCGGGGGCCCCAGATGCTTGCTGTTCCAGACTCGGCCCTCCCAGGGTCCCCTCGCCACCCGCAGTTCCAATCCAATACTTTTGTTTTTTGCCTTTTCAGCCTCCTCGAGGTGGAGTGCCGCTTAACCGGGAGCATCCCCACTCCTGGCTTTCTGAGTGTGTCACAAGCCACCGAGCCATGGTCCTCACTCCCCGCTCCTCCACCTGCCCCACCTCGCTTCCTTACGGATTCCGTCCTGAAAGCCCCCACCCCCGGCCATCCCCTCCACACAGTCCTGACCATGACTCCACTTTGCTTCTGCCCTGGGCACTGTCTGCGTCTCCCCAAGGCTGGTCCCACCAGGGACACCCCCTTGCGTGGCTGCCACCGATCTTGCCTCTGACGTGCCTCCCTTCTCTCGCAGGTACGCCATCCCACCAGAGCACGGCAAGCGCCTGGAGCGGCTGGCCATCGGTAGGTGCCTGCCCTGAGGGCCCCAGGGACCTGGGACCAGGTGGGAGGGGCCTGTGGGTGGGGAAGGGCAGCTGGCGTCCCCCGGGCTCTGCTGCGGTCTGGGTTTGGGTTTTGGGGAGTGGTGACATTCTTTGAGCCATTACTGTGTGATTTTTTCCATTTCCTCCCACCCTCGTGGTCAGATTCACGCCCTTCTGCCGCGCAGTTTGTCTCTTGTGAAATTCGCACAGAATGCCCAGACGCTCCTGTTTTCCAGTTTTCTTAGCGCAAACTTCTTGGGCCTGGTCAAAGGCTGCCAGGGCCCAGGGAGGGCAGCCTGTGTTCATTTTCCTCCCATCACCTGACCCCACACTGTGCCCTTGCTAATTCTGAGAAAGCCTAGGAAAGGAGACAATTCAGCCAGCAGTCCGCTTACCTGCGGGGGAGCAGACATGGTGGCCGCACGGCGTTTGCCCTTGTTCTGCTGGGACCCAACCTGGACACCTTTGGCAAATGTCCTCACTGGTGATGCCACCAGCTCGCGTTCATGTGCTCCCTGGGGACTCTTGGGAAAGAAGGGGTTTGTCATAGAGGGTCCCAGCATGTGCCTGAGGGAGTGCCAGATCCTCAGGTTGTGGGATACTTGGAAACAAGTCAGACAGCTGGAGACACCCGGGATGGGGCCACCCTGAGCTCCCCTGACCACCCAGCCCTGAGGCACTTGGGCAGGGTCCCCATGTCAGCGCCGGCATCACAGCACAACAGGGGTGCAAGTTTCATGACACCTCACTGCTCCTAAGTGCCTGGAGAGTCATGAAAAGACACAGCTGGCTAAAGCAGTTCCTCCCTCCCGCTGGTCCATTCCCAGCTGCTCAAGAGCTGGCTCCTCCGCATTGGCAGGTGGACAGCTTGGGGTGCGTGAGGGGTGAGGGTCAGTGAGGGCCCGTTGTTCCTCTGACAGCATTGAGAGGGCCCTGTCCGAGCACCCCGCCCTTCAAGGACGGCGTCAGGCAGCTCAGCAAGCGACAGCCACAGCTTTTCCAGGAGCTCTCACCCAGCCTCAGTACAGGCTCCCGGGACTGCCTGGTTGCTGTCCTCTGTCCCTTCCAAACCTTCGAGCCAAAGGACGCCCGCCACATGCTCTCTTCCCCCTTCCCATGGGCTTTTGGCTTTGGAGATGGGAACTGTCAGTCTTTCTAGGGAAATAAGGGTCTCCTGTCCCAGAGACTGCGCCAGGAGTCACGTGGCTGTGCAGGAAATGTTGCCCAAGCGCGGCAGATTCGGTGGTGGGGACGGAGGGGAAGGGAGTCCTTGGGGAGTGGGCTGGGCCCTCTCCTGGCATGTGCTCTCCTGGCTTCTGGACTGAGGGCTTTGCTCTTGGTATTTTTGAGCGTTTCTATTGGAAACCTGGACCCCTTTCTTAGGCACAGGTGAATCCTGGTCTTAGGAGCACGCTTCTGGTAGTAGAAATTCTGCAGTCACAGACAGGCCGTAGCAAAGGTCCAGCTCACTTACATACTAAAGCTGTGAAAGAAAAGCTAGATTAAAGCATTTCTCCCATTGTATGTTTTTAATACCAATTTCCAAAACAAATTTGAAGACATAAGCTAAAGAAACATTCCCCATGTTGTATTAGCATCCTGAGGCTCCTGTAACAAATGACCACAGAATTAATGGCTGAAAACAACACACGTTTATTCTCTCACCGTTCTGGAGGTCAGGAGTCTAAAATGCATGTTAAGGGGCTAAAACCCAGGTGCAGGCAGGGCCAGTTCCATCTGGAGGCACCAGGGGAGAACCCACTTCCCGCCTTTTCCAGTGTCTAGAGGCCGCCCGCATTCCTTGGCTCGGTCCCAGGGGAGAACCCGTTTCTGCCTTCCCTTCTCCAGCATCTAGAGGCCACCTGCATCCCTTGACTTGGGCCGCATCACTCCAGCCTCTGTCTCTGGTCTCCTCACTTTCCTCTGCTGTAACCAACAGTCCCTCTGCCTCGCTGTTCTGAGGACCCATGGAATGACATCGGATCACCCGGATAGCCAGGGTGCTCCCCC
CCCAGAAGGAGCAGAGTGTTTCATTCCCTGTGCGGAGGGGTCTTTAATCCCACAAAGGTGCTTTGGATTGGGATTAAAATTTCTCATCTTTATGTAAATCATAAAAGCCCATTTAAAAAAGAGGAATGCACCCCTGTCTAGACAGTGGAAGACTCTCTGAGGACGACAGAGTTGAAGGTGCTGGGGTCGCCTTGGCTGGGGACCCTGGGAGCATGCCCAGAAATTAATTATTTGTGTCCTGTTAGATTAGAGGCTCCGTGATGTTCGCCTCTTCTCTGGCTCCTGCCCCCTCCTTATTTATTTTTATTTTTATTTTTATTTTTTTTAATTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCCGTGGCGCAATCTTGGTTCATTGCAACCTCCACTTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCACCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTCGTAGAGGCGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGACGTGAGCCACTGCACCCGGCCTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTCTCTCGCCCAGGCTGGAGTGCAGTGGCACCATCTTGGCTCACTGCAGCCTTTGCCTCCCAGGTTCAAATGATTCTTTTGCGTCAGCCTCCCGAGTAGCTGGGATTACAGCCTCCTGAGTAGCTGGTATTTTGTATTTTTGGTAGAGGAGGGGTTTCACCATGTTGGCTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCGCGCCTGGCTTCTTTATTTCATTAAAAAACAAAGTGGCCTTTCAGCTGGAAGGGGCTGTAGTGGAGCAGGGGCCGTCTCCCACCCTCTGAGCTTTTCCTTGTCTTGCTTCTGCCCTGGGAGGGTCTCGGGGAGAGACCATATCATGTGTCCTCTCATCTGTGTGACTGTTCTAGAACGGGAGCTGTTGGCCTTGTTACTCTAGAGTTGGGGTCGAGGATGGGACTTGACCATCCTCAGCTGGCACTCAGCTGTGTGCCCTCAAGTCCCTGAGGCCCTGTCCTCGTCCCCTTCGCTTGGAAATTGAGGTTTTTGTTTTGCCGGAGGCCTTGGGAGTGGGCTGGGTGGTGTCCCCGTTGGCACTGGGGCTTCTCGCTCCCCCTCAAGGCTGCGGCTCCTGGTGCCCACCCTCCCTGATGGGAAGAGAGTCCCAACATCGCAGGTCTCCAGCTTCTGGTACGGCATGAGCGGGATGCCACCCCCACTTCGCTTCGTGTGTTTGCACACTTTCATCTTATGTCTTTCTTATTCATGATGGAGCCTTGGTGATCTTTCAAATGTAAAATGTGTAAAAATAAAACTTACAAAGTCGGTGACAAATGCAGCTTTTCTCATTTCCAAAGCTGCTTTTTCCCTGTTGGCTCCCAGTGCCGGGAAAGGGTGACGTGGGCCTGGAGACCGTGACGTGGGCCTGGAGAGCGGGCTGGCAGCTCCGGGGGCCCCAGATGCTTGCTGTTCCAGACTCGGCCCTCCCAGGGTCCCCTCGCCACCCGCAGTTCCAATCCAATACTTTTGTTTTTTGCCTTTTCAGCCTCCTCGAGGTGGAGTGCCGCTTAACCGGGAGCATCCCCACTCCTGGCTTTCTGAGTGTGTCACAAGCCACCGAGCCATGGTCCTCACTCCCCGCTCCTCCACCTGCCCCACCTCGCTTCCTTACGGATTCCGTCCTGAAAGCCCCCACCCCCGGCCATCCCCTCCACACAGTCCTGACCATGACTCCACTTTGCTTCTGCCCTGGGCACTGTCTGCGTCTCCCCAAGGCTGGTCCCACCAGGGACACCCCCTTGCGTGGCTGCCACCGATCTTGCCTCTGACGTGCCTCCCTTCTCTCGCAGGTACGCCATCCCACCAGAGCACGGCAAGCGCCCGGAGCGGCTGGCCATCGGTAGGTGCCTGCCCTGAGGGCCCCAGGGACCTGGGACCAGGTGGGAGGGGCCTGTGGGTGGGGAAGGGCAGCTGGCGTCCCCCGGGCTCTGCTGCGGTCTGGGTTTGGGTTTTGGGGAGTGGTGACATTCTTTGAGCCATTACTGTGTGATTTTTTCCATTTCCTCCCACCCTCGTGGTCAGATTCACGCCCTTCTGCCGCGCAGTTTGTCTCTTGTGAAATTCGCACAGAATGCCCAGACGCTCCTGTTTTCCAGTTTTCTTAGCGCAAACTTCTTGGGCCTGGTCAAAGGCTGCCAGGGCCCAGGGAGGGCAGCCTGTGTTCATTTTCCTCCCATCACCTGACCCCACACTGTGCCCTTGCTAATTCTGAGAAAGCCTAGGAAAGGAGACAATTCAGCCAGCAGTCCGCTTACCTGCGGGGGAGCAGACATGGTGGCCGCACGGCGTTTGCCCTTGTTCTGCTGGGACCCAACCTGGACACCTTTGGCAAATGTCCTCACTGGTGATGCCACCAGCTCGCGTTCATGTGCTCCCTGGGGACTCTTGGGAAAGAAGGGGTTTGTCATAGAGGGTCCCAGCATGTGCCTGAGGGAGTGCCAGATCCTCAGGTTGTGGGATACTTGGAAACAAGTCAGACAGCTGGAGACACCCGGGATGGGGCCACCCTGAGCTCCCCTGACCACCCAGCCCTGAGGCACTTGGGCAGGGTCCCCATGTCAGCGCCGGCATCACAGCACAACAGGGGTGCAAGTTTCATGACACCTCACTGCTCCTAAGTGCCTGGAGAGTCATGAAAAGACACAGCTGGCTAAAGCAGTTCCTCCCTCCCGCTGGTCCATTCCCAGCTGCTCAAGAGCTGGCTCCTCCGCATTGGCAGGTGGACAGCTTGGGGTGCGTGAGGGGTGAGGGTCAGTGAGGGCCCGTTGTTCCTCTGACAGCATTGAGAGGGCCCTGTCCGAGCACCCCGCCCTTCAAGGACGGCGTCAGGCAGCTCAGCAAGCGACAGCCACAGCTTTTCCAGGAGCTCTCACCCAGCCTCAGTACAGGCTCCCGGGACTGCCTGGTTGCTGTCCTCTGTCCCTTCCAAACCTTCGAGCCAAAGGACGCCCGCCACATGCTCTCTTCCCCCTTCCCATGGGCTTTTGGCTTTGGAGATGGGAACTGTCAGTCTTTCTAGGGAAATAAGGGTCTCCTGTCCCAGAGACTGCGCCAGGAGTCACGTGGCTGTGCAGGAAATGTTGCCCAAGCGCGGCAGATTCGGTGGTGGGGACGGAGGGGAAGGGAGTCCTTGGGGAGTGGGCTGGGCCCTCTCCTGGCATGTGCTCTCCTGGCTTCTGGACTGAGGGCTTTGCTCTTGGTATTTTTGAGCGTTTCTATTGGAAACCTGGACCCCTTTCTTAGGCACAGGTGAATCCTGGTCTTAGGAGCACGCTTCTGGTAGTAGAAATTCTGCAGTCACAGACAGGCCGTAGCAAAGGTCCAGCTCACTTACATACTAAAGCTGTGAAAGAAAAGCTAGATTAAAGCATTTCTCCCATTGTATGTTTTTAATACCAATTTCCAAAACAAATTTGAAGACATAAGCTAAAGAAACATTCCCCATGTTGTATTAGCATCCTGAGGCTCCTGTAACAAATGACCACAGAATTAATGGCTGAAAACAACACACGTTTATTCTCTCACCGTTCTGGAGGTCAGGAGTCTAAAATGCATGTTAAGGGGCTAAAACCCAGGTGCAGGCAGGGCCAGTTCCATCTGGAGGCACCAGGGGAGAACCCACTTCCCGCCTTTTCCAGTGTCTAGAGGCCGCCCGCATTCCTTGGCTCGGTCCCAGGGGAGAACCCGTTTCTGCCTTCCCTTCTCCAGCATCTAGAGGCCACCTGCATCCCTTGACTTGGGCCGCATCACTCCAGCCTCTGTCTCTGGTCTCCTCACTTTCCTCTGCTGTAACCAACAGTCCCTCTGCCTCGCTGTTCTGAGGACCCATGGAATGACATCGGATCACCCGGATAGCCAGGGTGCTCCCCC
Task1_train_26328
A change on Chromosome 19 affects gene LONP1 (lon peptidase 1, mitochondrial). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; CODAS syndrome
GTGGGTGGGTGTGGGTGTGTCGGGGGCCCGCAGTCCCCTGTCTGGTGCCCGCTCTGAGCCACACCCTCTCCGGGTGCTGCCTGGTCGTGAATCAAAAGCCGTGGCCCGCCCACCCTTCCCGGGGCAGCAGGTGAGGAAGCCGCCGTACTGCAAATGACTTTAATCATTAAATAGCTTCTATGCCACACTCTGATTAAGCCGACTGAGGTCCCTGGGATCTGGGTCACTGGACCGAGCTGCTCGCTCGGTGGCTCCACTGCCAGGTCCGGGCGCGCTCCCCACAGCGCTCAGTTCTGGCCCAGACAGGGCCTGACATCCGCCGCCTGCAGTCCCGGGGTGGCCGTCACCGTTCCACGGCCAGCGCCTCTGCCTGCTCGTCCGGGAAGGCGATGTCGAAGATCTCCCGGTAGTGTTCCACGAAGTGCACCTCCAGGCCCTCGGTGATGAAGGCTGCCAGGTCGTAGAAGTCCTTCTTGTTCTCGGCTGGCAGGACGATGCACGTCACCCCTGCGCGCTTGGCCTGGGGGCAGAGTCAGGGTCAGCCCTGCCTGGGCCTGTGGGAGGGCAGCAGGTGTGCTAACCTCCAGGAACGAAAGGGCTTCCTGGGGACCGGCGATACACAGTGATGCCGGGTTCTAAGCAGTAAGTCCCAAAACCCACCAGGGTCCCCGTCTCCCACGGGGAAACAGGCTCAAGGCAAAACCACTGGCCTTGGCTCCAACAGCCTGAGAGCAGGAGCCAGGGCCTCCCCACCCCCTTATCTAGGAAGTCTGGCCGTGCGGTGGGAGCAGTCTCAGGGCTCTGGATGAGCCACACACCCACGGCCTCACATCCAGAGGTCAGGCAGTGTCTGGGGCCTGAACAGGGTTCCTGTGAGCATCTGCATCTCTGCCCCCAGGCCCTGCGTCACCCCCCTCACCTCCGGAGGCTACACATATCTGGAGTAGATGCCAGGCACAGCCCCACCACAGCCCCTTGAAAGGACAGCAGTTCCCACTGTCACCGCACACTGACTCCATGGACAGTGAGCCTCCCAATTTGCCTCCACCATTTTATCATCTAGGAAGTCTGTGCCTGGTGTCCAATTCAAGGTGGTCACAGCCACTTGACCATGCCTCCCTCGTGGTGGCATCTCCTGACTGACTGCACCAGGCTTCCTAGACACATGGCAAGTGTGGTCCAGTCTGGGGACAGGCAGGGATGGGAGGGAAGAGTGGGGACAGTGGCGCTCCAACCTGCTCAGCACCCTTGGAAGAGGCCAGCCCCTGGCCAGGGGCTCCAAACACCCCCGCCACCAGTAATCCTAAACGTCGTCCCCATCTCTAGCCTCTCCCTTGGCGCTGGGCTGCCTGGGAAGAGAAGCAGGAGCCACCCCCCCAATCCTACTGGGGAAGCCAGTGGAGGCTCAGAATGTTCTCCACAAGACTTGCTGTGGAGAAGGCAGCTAGGGCGGTGAGCTTAAGGCCAGCTCCAGGCCAGAGAGACCTGCTTCCAAAGCCCAGGGCTTCCCTCTCCTTGGCCCAGGCAGAGGTTGCATGGCGGGGACTGGGCCTGTCCCGTGGTGGTGTGGGCCCTGCCAGTGCTGTGGGGTGGGTACAGGGACACTCACCGCAATGGTCTTCTCCTTGATGCCACCAACAGGCAGGATCTTGCCCGTGAGGGAGACTTCGCCAGTCATGGCCAGATTCTGCCGGACAGGCCTGCCCATGGCCAGGGACAGCAGGGCCGTGACGATGGTGCAGCCTGCGCTTGGGCCGTCCTTGGGGGTGGCGCCCTGTGGAGGCATGTGGGGATAGTGGGTGAGCAGGTGGCCAGCAGCCCAGGGACTGGGCGGGAGCAGGTGGGAGCGGATGGCGCGGTCACCTCGGGCACATGCAGGTGGATGTGTGAGGTCACCAGGTAGTCATTGGCGGGGGCGTGCTGCATGAGGAAGGCTCTGGCGAAGGTGTAGGCTATGCGGGCGCTCTCCTTCATCACCTCCCCCAGCTGGCCTGTCACCTCCAGGCTGCCATCCTTGTCACCCTTGGCATCCTTGTCCTGTGGCCGTCTCAGGGATGTCTCCACAAACAGCGTGGAGCCTCCTGAAACAGGTGTGGAGCTGTGAACACGGGAGGCCTCGGAGCCCAGGCCGGTGCTCACTCCACCCCTCGGGGCCACTCTGACCGCTCCTGCCCCAGTTTAGCATCTTGGTGCCCCTGGGCAGGGGTTGGTGTCCCATCGTGAGCCAACGCTGGCCTCTACGTTTGCTGCGTTGCGGGTTCCTGGCTCTGTACGCCCCACAGGGCAGCCCCCAGCAGCTGCCAGCCACAGAGGACACGCCCAGGGCTACAAGGCCCAGCTGCCGCTGCCCTGCAGACAGACACAAGCCCTTCTCCAGCCCCTCCCGCACCATCCCCTTTGCCCTCTCGCCTCCTTTGTGCGTGGTGGCCCCAAGGCCCATCTGGATGAGCTTGTCCTTACCTGTAAGCCTATCAAAGTGGCACCCAAATCCATAAGGCCCATGGTGTGCTGCCACCCCCATGTGTCACAGCCTTCCCCTCCCTCAGCCCAGACCCCCTGGGCTCCCAGCACACCACCCCCCGCCAGAGGCCGTTCAGAGCCACCTGAGGCCCACTGCACAGGTGTACAAGGTGGGACCTGCTTGTTCTCGGGTAGAAATGGGAATGGCTTTGGGGTCTTCTCCCGCCACCACGCTCACCCATTGCGGTCCAGGCCAGCCCCATGACCACGCCGGGCGGTGTCACGTCATACATGCGCTCCACGGTGAACACGGGCTTCCCCACGAAGTCCTGCAGGTTCTCGGGCGTCACCTCCACGGACTCGGCCTCGCCGCTGACAATCTTGTAGGCCGATTTCCGTAACACCTGGGCGGTCAGGGCAACACAATGGGCACGGGAAGGTGGGGTGACAGGTGCGGGGTGGTGGGGTGACGGGCACAGAAAGGTGTGACGGGCGCGGGGTGGTGGGGTGATGGGCGCAGGAAAGTGGGATGATGGGCATGGAAAGGTGGGGTGATCAGCGTGGGATGGTGAGGTGGGCGGCAGGTGCCAGGAGGGCGGGCTGGCCGCTCACCTTCTCCACTTGCTTCTGCAGGTTGCGGACACCGCTCTCGCGGCAGTACTGCTTGATGAGCAGCGTCAGCACGTCCGATGACAGCTTGGCCTTGCTCTCATCCAAGCCACACAGGGCGCGAGCCTGGGGCACCAGGTAGCGCTGCAAGGGCAACCGTCAGGGTTGGGTCTGGAGGGACCTTGCCCACCAGCTCAGTCTAGAACCTGGGAGCCAATGCCTCTCCCATGGCCCCCAGACCCTGGCCTGGGAACGAGGTCCCTGATGGTGAAACCAGGGCCTGGACACCCCGCCCTGCCACCCACCATGCCCAGAGGCCCCAGGCCTTTGCTTGTGCTGCGTCCTCTGCTTGGATCCACTTCCTATCCCCCAATGGTATCTTAGATGCCGCTTCCTCCAGGAAGGCCTCCTGGTTGCCCCATGGGCTGGCCCCATACACAGACCCAGGGCCTGTAGGGTGGCTGACTGGTTACGTGGCTGCTGCCCTCAGCACATGAGGAAGGGGACTGGGTCAGGGGCTCCAGGGTCACCCACAGCCCCACACAATTCTTGCCACAGTTCTGAGCTCTAATGGCATGGGGGAGGGCATCTGTGAGACGGACAGAGCCATGCAAGCCACTCTACATCTGCCACTGATACTGGGGGGCACTCCTGATGCCCTGAGGGGTCCCCATGCCCCCCAGTCCTGTCCCCAGGAACTACAGGCCCGTCCCTTGGAGAAGTCAGGCTGGGAACTGGGCCCAGCAGTGGGCATTGAAGCCCCCAGGGGACACGAGGATGCTGGGAGGGCCTCAAGGGCAGGGACCAGTGCCCACCACTGGCTGTCAAAGGGCTCCTAGGGGAGAAATGCACTCAGCACCTTTGCAGAAAAAAAAACACATGAGAAATATGGGCCCCTGCATGCTCCTCACTGAAACCACTTCTCCTCCAAGCCTCATTCTGGGTGGGAGCCACAGGCCCCACTGCTTCCGGCTGCCAGAAACCTTCCCTACACTCTGGGCCAGGTGGGGGCCCCACCATGGGGCAG
GTGGGTGGGTGTGGGTGTGTCGGGGGCCCGCAGTCCCCTGTCTGGTGCCCGCTCTGAGCCACACCCTCTCCGGGTGCTGCCTGGTCGTGAATCAAAAGCCGTGGCCCGCCCACCCTTCCCGGGGCAGCAGGTGAGGAAGCCGCCGTACTGCAAATGACTTTAATCATTAAATAGCTTCTATGCCACACTCTGATTAAGCCGACTGAGGTCCCTGGGATCTGGGTCACTGGACCGAGCTGCTCGCTCGGTGGCTCCACTGCCAGGTCCGGGCGCGCTCCCCACAGCGCTCAGTTCTGGCCCAGACAGGGCCTGACATCCGCCGCCTGCAGTCCCGGGGTGGCCGTCACCGTTCCACGGCCAGCGCCTCTGCCTGCTCGTCCGGGAAGGCGATGTCGAAGATCTCCCGGTAGTGTTCCACGAAGTGCACCTCCAGGCCCTCGGTGATGAAGGCTGCCAGGTCGTAGAAGTCCTTCTTGTTCTCGGCTGGCAGGACGATGCACGTCACCCCTGCGCGCTTGGCCTGGGGGCAGAGTCAGGGTCAGCCCTGCCTGGGCCTGTGGGAGGGCAGCAGGTGTGCTAACCTCCAGGAACGAAAGGGCTTCCTGGGGACCGGCGATACACAGTGATGCCGGGTTCTAAGCAGTAAGTCCCAAAACCCACCAGGGTCCCCGTCTCCCACGGGGAAACAGGCTCAAGGCAAAACCACTGGCCTTGGCTCCAACAGCCTGAGAGCAGGAGCCAGGGCCTCCCCACCCCCTTATCTAGGAAGTCTGGCCGTGCGGTGGGAGCAGTCTCAGGGCTCTGGATGAGCCACACACCCACGGCCTCACATCCAGAGGTCAGGCAGTGTCTGGGGCCTGAACAGGGTTCCTGTGAGCATCTGCATCTCTGCCCCCAGGCCCTGCGTCACCCCCCTCACCTCCGGAGGCTACACATATCTGGAGTAGATGCCAGGCACAGCCCCACCACAGCCCCTTGAAAGGACAGCAGTTCCCACTGTCACCGCACACTGACTCCATGGACAGTGAGCCTCCCAATTTGCCTCCACCATTTTATCATCTAGGAAGTCTGTGCCTGGTGTCCAATTCAAGGTGGTCACAGCCACTTGACCATGCCTCCCTCGTGGTGGCATCTCCTGACTGACTGCACCAGGCTTCCTAGACACATGGCAAGTGTGGTCCAGTCTGGGGACAGGCAGGGATGGGAGGGAAGAGTGGGGACAGTGGCGCTCCAACCTGCTCAGCACCCTTGGAAGAGGCCAGCCCCTGGCCAGGGGCTCCAAACACCCCCGCCACCAGTAATCCTAAACGTCGTCCCCATCTCTAGCCTCTCCCTTGGCGCTGGGCTGCCTGGGAAGAGAAGCAGGAGCCACCCCCCCAATCCTACTGGGGAAGCCAGTGGAGGCTCAGAATGTTCTCCACAAGACTTGCTGTGGAGAAGGCAGCTAGGGCGGTGAGCTTAAGGCCAGCTCCAGGCCAGAGAGACCTGCTTCCAAAGCCCAGGGCTTCCCTCTCCTTGGCCCAGGCAGAGGTTGCATGGCGGGGACTGGGCCTGTCCCGTGGTGGTGTGGGCCCTGCCAGTGCTGTGGGGTGGGTACAGGGACACTCACCGCAATGGTCTTCTCCTTGATGCCACCAACAGGCAGGATCTTGCCCGTGAGGGAGACTTCGCCAGTCATGGCCAGATTCTGCCGGACAGGCCTGCCCATGGCCAGGGACAGCAGGGCCGTGACGATGGTGCAGCCTGCGCTTGGGCCGTCCTTGGGGGTGGCGCCCTGTGGAGGCATGTGGGGATAGTGGGTGAGCAGGTGGCCAGCAGCCCAGGGACTGGGCGGGAGCAGGTGGGAGCGGATGGCGCGGTCACCTCGGGCACATGCAGGTGGATGTGTGAGGTCACCAGGTAGTCATTGGCGGGGGCGTGCTGCATGAGGAAGGCTCTGGCGAAGGTGTAGGCTATGCGGGCGCTCTCCTTCATCACCTCCCCCAGCTGGCCTGTCACCTCCAGGCTGCCATCCTTGTCACCCTTGGCATCCTTGTCCTGTGGCCGTCCCAGGGATGTCTCCACAAACAGCGTGGAGCCTCCTGAAACAGGTGTGGAGCTGTGAACACGGGAGGCCTCGGAGCCCAGGCCGGTGCTCACTCCACCCCTCGGGGCCACTCTGACCGCTCCTGCCCCAGTTTAGCATCTTGGTGCCCCTGGGCAGGGGTTGGTGTCCCATCGTGAGCCAACGCTGGCCTCTACGTTTGCTGCGTTGCGGGTTCCTGGCTCTGTACGCCCCACAGGGCAGCCCCCAGCAGCTGCCAGCCACAGAGGACACGCCCAGGGCTACAAGGCCCAGCTGCCGCTGCCCTGCAGACAGACACAAGCCCTTCTCCAGCCCCTCCCGCACCATCCCCTTTGCCCTCTCGCCTCCTTTGTGCGTGGTGGCCCCAAGGCCCATCTGGATGAGCTTGTCCTTACCTGTAAGCCTATCAAAGTGGCACCCAAATCCATAAGGCCCATGGTGTGCTGCCACCCCCATGTGTCACAGCCTTCCCCTCCCTCAGCCCAGACCCCCTGGGCTCCCAGCACACCACCCCCCGCCAGAGGCCGTTCAGAGCCACCTGAGGCCCACTGCACAGGTGTACAAGGTGGGACCTGCTTGTTCTCGGGTAGAAATGGGAATGGCTTTGGGGTCTTCTCCCGCCACCACGCTCACCCATTGCGGTCCAGGCCAGCCCCATGACCACGCCGGGCGGTGTCACGTCATACATGCGCTCCACGGTGAACACGGGCTTCCCCACGAAGTCCTGCAGGTTCTCGGGCGTCACCTCCACGGACTCGGCCTCGCCGCTGACAATCTTGTAGGCCGATTTCCGTAACACCTGGGCGGTCAGGGCAACACAATGGGCACGGGAAGGTGGGGTGACAGGTGCGGGGTGGTGGGGTGACGGGCACAGAAAGGTGTGACGGGCGCGGGGTGGTGGGGTGATGGGCGCAGGAAAGTGGGATGATGGGCATGGAAAGGTGGGGTGATCAGCGTGGGATGGTGAGGTGGGCGGCAGGTGCCAGGAGGGCGGGCTGGCCGCTCACCTTCTCCACTTGCTTCTGCAGGTTGCGGACACCGCTCTCGCGGCAGTACTGCTTGATGAGCAGCGTCAGCACGTCCGATGACAGCTTGGCCTTGCTCTCATCCAAGCCACACAGGGCGCGAGCCTGGGGCACCAGGTAGCGCTGCAAGGGCAACCGTCAGGGTTGGGTCTGGAGGGACCTTGCCCACCAGCTCAGTCTAGAACCTGGGAGCCAATGCCTCTCCCATGGCCCCCAGACCCTGGCCTGGGAACGAGGTCCCTGATGGTGAAACCAGGGCCTGGACACCCCGCCCTGCCACCCACCATGCCCAGAGGCCCCAGGCCTTTGCTTGTGCTGCGTCCTCTGCTTGGATCCACTTCCTATCCCCCAATGGTATCTTAGATGCCGCTTCCTCCAGGAAGGCCTCCTGGTTGCCCCATGGGCTGGCCCCATACACAGACCCAGGGCCTGTAGGGTGGCTGACTGGTTACGTGGCTGCTGCCCTCAGCACATGAGGAAGGGGACTGGGTCAGGGGCTCCAGGGTCACCCACAGCCCCACACAATTCTTGCCACAGTTCTGAGCTCTAATGGCATGGGGGAGGGCATCTGTGAGACGGACAGAGCCATGCAAGCCACTCTACATCTGCCACTGATACTGGGGGGCACTCCTGATGCCCTGAGGGGTCCCCATGCCCCCCAGTCCTGTCCCCAGGAACTACAGGCCCGTCCCTTGGAGAAGTCAGGCTGGGAACTGGGCCCAGCAGTGGGCATTGAAGCCCCCAGGGGACACGAGGATGCTGGGAGGGCCTCAAGGGCAGGGACCAGTGCCCACCACTGGCTGTCAAAGGGCTCCTAGGGGAGAAATGCACTCAGCACCTTTGCAGAAAAAAAAACACATGAGAAATATGGGCCCCTGCATGCTCCTCACTGAAACCACTTCTCCTCCAAGCCTCATTCTGGGTGGGAGCCACAGGCCCCACTGCTTCCGGCTGCCAGAAACCTTCCCTACACTCTGGGCCAGGTGGGGGCCCCACCATGGGGCAG
Task1_train_26329
This alteration in LONP1 (lon peptidase 1, mitochondrial) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; CODAS syndrome
CTCTGGATGAGCCACACACCCACGGCCTCACATCCAGAGGTCAGGCAGTGTCTGGGGCCTGAACAGGGTTCCTGTGAGCATCTGCATCTCTGCCCCCAGGCCCTGCGTCACCCCCCTCACCTCCGGAGGCTACACATATCTGGAGTAGATGCCAGGCACAGCCCCACCACAGCCCCTTGAAAGGACAGCAGTTCCCACTGTCACCGCACACTGACTCCATGGACAGTGAGCCTCCCAATTTGCCTCCACCATTTTATCATCTAGGAAGTCTGTGCCTGGTGTCCAATTCAAGGTGGTCACAGCCACTTGACCATGCCTCCCTCGTGGTGGCATCTCCTGACTGACTGCACCAGGCTTCCTAGACACATGGCAAGTGTGGTCCAGTCTGGGGACAGGCAGGGATGGGAGGGAAGAGTGGGGACAGTGGCGCTCCAACCTGCTCAGCACCCTTGGAAGAGGCCAGCCCCTGGCCAGGGGCTCCAAACACCCCCGCCACCAGTAATCCTAAACGTCGTCCCCATCTCTAGCCTCTCCCTTGGCGCTGGGCTGCCTGGGAAGAGAAGCAGGAGCCACCCCCCCAATCCTACTGGGGAAGCCAGTGGAGGCTCAGAATGTTCTCCACAAGACTTGCTGTGGAGAAGGCAGCTAGGGCGGTGAGCTTAAGGCCAGCTCCAGGCCAGAGAGACCTGCTTCCAAAGCCCAGGGCTTCCCTCTCCTTGGCCCAGGCAGAGGTTGCATGGCGGGGACTGGGCCTGTCCCGTGGTGGTGTGGGCCCTGCCAGTGCTGTGGGGTGGGTACAGGGACACTCACCGCAATGGTCTTCTCCTTGATGCCACCAACAGGCAGGATCTTGCCCGTGAGGGAGACTTCGCCAGTCATGGCCAGATTCTGCCGGACAGGCCTGCCCATGGCCAGGGACAGCAGGGCCGTGACGATGGTGCAGCCTGCGCTTGGGCCGTCCTTGGGGGTGGCGCCCTGTGGAGGCATGTGGGGATAGTGGGTGAGCAGGTGGCCAGCAGCCCAGGGACTGGGCGGGAGCAGGTGGGAGCGGATGGCGCGGTCACCTCGGGCACATGCAGGTGGATGTGTGAGGTCACCAGGTAGTCATTGGCGGGGGCGTGCTGCATGAGGAAGGCTCTGGCGAAGGTGTAGGCTATGCGGGCGCTCTCCTTCATCACCTCCCCCAGCTGGCCTGTCACCTCCAGGCTGCCATCCTTGTCACCCTTGGCATCCTTGTCCTGTGGCCGTCTCAGGGATGTCTCCACAAACAGCGTGGAGCCTCCTGAAACAGGTGTGGAGCTGTGAACACGGGAGGCCTCGGAGCCCAGGCCGGTGCTCACTCCACCCCTCGGGGCCACTCTGACCGCTCCTGCCCCAGTTTAGCATCTTGGTGCCCCTGGGCAGGGGTTGGTGTCCCATCGTGAGCCAACGCTGGCCTCTACGTTTGCTGCGTTGCGGGTTCCTGGCTCTGTACGCCCCACAGGGCAGCCCCCAGCAGCTGCCAGCCACAGAGGACACGCCCAGGGCTACAAGGCCCAGCTGCCGCTGCCCTGCAGACAGACACAAGCCCTTCTCCAGCCCCTCCCGCACCATCCCCTTTGCCCTCTCGCCTCCTTTGTGCGTGGTGGCCCCAAGGCCCATCTGGATGAGCTTGTCCTTACCTGTAAGCCTATCAAAGTGGCACCCAAATCCATAAGGCCCATGGTGTGCTGCCACCCCCATGTGTCACAGCCTTCCCCTCCCTCAGCCCAGACCCCCTGGGCTCCCAGCACACCACCCCCCGCCAGAGGCCGTTCAGAGCCACCTGAGGCCCACTGCACAGGTGTACAAGGTGGGACCTGCTTGTTCTCGGGTAGAAATGGGAATGGCTTTGGGGTCTTCTCCCGCCACCACGCTCACCCATTGCGGTCCAGGCCAGCCCCATGACCACGCCGGGCGGTGTCACGTCATACATGCGCTCCACGGTGAACACGGGCTTCCCCACGAAGTCCTGCAGGTTCTCGGGCGTCACCTCCACGGACTCGGCCTCGCCGCTGACAATCTTGTAGGCCGATTTCCGTAACACCTGGGCGGTCAGGGCAACACAATGGGCACGGGAAGGTGGGGTGACAGGTGCGGGGTGGTGGGGTGACGGGCACAGAAAGGTGTGACGGGCGCGGGGTGGTGGGGTGATGGGCGCAGGAAAGTGGGATGATGGGCATGGAAAGGTGGGGTGATCAGCGTGGGATGGTGAGGTGGGCGGCAGGTGCCAGGAGGGCGGGCTGGCCGCTCACCTTCTCCACTTGCTTCTGCAGGTTGCGGACACCGCTCTCGCGGCAGTACTGCTTGATGAGCAGCGTCAGCACGTCCGATGACAGCTTGGCCTTGCTCTCATCCAAGCCACACAGGGCGCGAGCCTGGGGCACCAGGTAGCGCTGCAAGGGCAACCGTCAGGGTTGGGTCTGGAGGGACCTTGCCCACCAGCTCAGTCTAGAACCTGGGAGCCAATGCCTCTCCCATGGCCCCCAGACCCTGGCCTGGGAACGAGGTCCCTGATGGTGAAACCAGGGCCTGGACACCCCGCCCTGCCACCCACCATGCCCAGAGGCCCCAGGCCTTTGCTTGTGCTGCGTCCTCTGCTTGGATCCACTTCCTATCCCCCAATGGTATCTTAGATGCCGCTTCCTCCAGGAAGGCCTCCTGGTTGCCCCATGGGCTGGCCCCATACACAGACCCAGGGCCTGTAGGGTGGCTGACTGGTTACGTGGCTGCTGCCCTCAGCACATGAGGAAGGGGACTGGGTCAGGGGCTCCAGGGTCACCCACAGCCCCACACAATTCTTGCCACAGTTCTGAGCTCTAATGGCATGGGGGAGGGCATCTGTGAGACGGACAGAGCCATGCAAGCCACTCTACATCTGCCACTGATACTGGGGGGCACTCCTGATGCCCTGAGGGGTCCCCATGCCCCCCAGTCCTGTCCCCAGGAACTACAGGCCCGTCCCTTGGAGAAGTCAGGCTGGGAACTGGGCCCAGCAGTGGGCATTGAAGCCCCCAGGGGACACGAGGATGCTGGGAGGGCCTCAAGGGCAGGGACCAGTGCCCACCACTGGCTGTCAAAGGGCTCCTAGGGGAGAAATGCACTCAGCACCTTTGCAGAAAAAAAAACACATGAGAAATATGGGCCCCTGCATGCTCCTCACTGAAACCACTTCTCCTCCAAGCCTCATTCTGGGTGGGAGCCACAGGCCCCACTGCTTCCGGCTGCCAGAAACCTTCCCTACACTCTGGGCCAGGTGGGGGCCCCACCATGGGGCAGCCTGGAGGCCCCGGGAGACAGAGTGTGTGGCCTGACGGTGGTGGGCGGTGTTTTGGACAGTCCCAGGCCCTAAACCCTGCGCCCACTCGCGCCACCTGCAGCTGCTCGCAAGCGTCTGGTGTGTCTCTCACGGCCCCATCTGCTCCTCGGCCGCAGGTCCCACCTGTCTCTCCCGGGCCCAGGAGCTCCCAGAGGCACGGCCTCTGCAGGCTCTGGGGGGCGCCCCCTGCTCTGGGAAGGGGACAGCAGTGGGGAGGGGCTGGGCTTACCTCCGCAATGGCCAGCTTCTCCTGGGCCACGTAGCCCGACACGTTGATCATCTCCATACGGTCTCGCAGCGGCTCGGGGATGGTGTCCGTGACGTTGGCCGTGCAGATGAACAGCACCTGGGGGCGGCGGCAAGGTGCTGGGGGACTGGCCGCTTACCCTCCCCAGCAAGCCCAGGCCCCAGACAGGCCCCCCACCTTGGACAAGTCCACGGGCACGTCCAGGTAGTGGTCCAGGAAGTTGGCATTCTGCTCTGGGTCCAGCAGCTCCAGCAGTGCCGACGACGGGTCCCCCTGGTAGCCTCGGCCGATCTTGTCCACCTGGGGCAGCAGACAGCAGGTGGTGCCCCTCGCCGTGCCCCTGGCCAGCCCGCCCAGTGGGGAGACCCCAGGGTCAGGGCTGGGGAGACCCCGAGTGAGAGCGGCACCCACACCCTGCCTTGGACGGGCAGCCTGCTGGGCGTGGCTGTGGGTGGGAGGGACCCGTCCGTGCCATCAGGGCCAGCATCACGGCGATGGCCCCTGAGTTGGCT
CTCTGGATGAGCCACACACCCACGGCCTCACATCCAGAGGTCAGGCAGTGTCTGGGGCCTGAACAGGGTTCCTGTGAGCATCTGCATCTCTGCCCCCAGGCCCTGCGTCACCCCCCTCACCTCCGGAGGCTACACATATCTGGAGTAGATGCCAGGCACAGCCCCACCACAGCCCCTTGAAAGGACAGCAGTTCCCACTGTCACCGCACACTGACTCCATGGACAGTGAGCCTCCCAATTTGCCTCCACCATTTTATCATCTAGGAAGTCTGTGCCTGGTGTCCAATTCAAGGTGGTCACAGCCACTTGACCATGCCTCCCTCGTGGTGGCATCTCCTGACTGACTGCACCAGGCTTCCTAGACACATGGCAAGTGTGGTCCAGTCTGGGGACAGGCAGGGATGGGAGGGAAGAGTGGGGACAGTGGCGCTCCAACCTGCTCAGCACCCTTGGAAGAGGCCAGCCCCTGGCCAGGGGCTCCAAACACCCCCGCCACCAGTAATCCTAAACGTCGTCCCCATCTCTAGCCTCTCCCTTGGCGCTGGGCTGCCTGGGAAGAGAAGCAGGAGCCACCCCCCCAATCCTACTGGGGAAGCCAGTGGAGGCTCAGAATGTTCTCCACAAGACTTGCTGTGGAGAAGGCAGCTAGGGCGGTGAGCTTAAGGCCAGCTCCAGGCCAGAGAGACCTGCTTCCAAAGCCCAGGGCTTCCCTCTCCTTGGCCCAGGCAGAGGTTGCATGGCGGGGACTGGGCCTGTCCCGTGGTGGTGTGGGCCCTGCCAGTGCTGTGGGGTGGGTACAGGGACACTCACCGCAATGGTCTTCTCCTTGATGCCACCAACAGGCAGGATCTTGCCCGTGAGGGAGACTTCGCCAGTCATGGCCAGATTCTGCCGGACAGGCCTGCCCATGGCCAGGGACAGCAGGGCCGTGACGATGGTGCAGCCTGCGCTTGGGCCGTCCTTGGGGGTGGCGCCCTGTGGAGGCATGTGGGGATAGTGGGTGAGCAGGTGGCCAGCAGCCCAGGGACTGGGCGGGAGCAGGTGGGAGCGGATGGCGCGGTCACCTCGGGCACATGCAGGTGGATGTGTGAGGTCACCAGGTAGTCATTGGCGGGGGCGTGCTGCATGAGGAAGGCTCTGGCGAAGGTGTAGGCTATGCGGGCGCTCTCCTTCATCACCTCCCCCAGCTGGCCTGTCACCTCCAGGCTGCCATCCTTGTCACCCTTGGCATCCTTGTCCTGTGGCCGTCTCAGGGATGTCTCCACAAACAGCGTGGAGCCTCCTGAAACAGGTGTGGAGCTGTGAACACGGGAGGCCTCGGAGCCCAGGCCGGTGCTCACTCCACCCCTCGGGGCCACTCTGACCGCTCCTGCCCCAGTTTAGCATCTTGGTGCCCCTGGGCAGGGGTTGGTGTCCCATCGTGAGCCAACGCTGGCCTCTACGTTTGCTGCGTTGCGGGTTCCTGGCTCTGTACGCCCCACAGGGCAGCCCCCAGCAGCTGCCAGCCACAGAGGACACGCCCAGGGCTACAAGGCCCAGCTGCCGCTGCCCTGCAGACAGACACAAGCCCTTCTCCAGCCCCTCCCGCACCATCCCCTTTGCCCTCTCGCCTCCTTTGTGCGTGGTGGCCCCAAGGCCCATCTGGATGAGCTTGTCCTTACCTGTAAGCCTATCAAAGTGGCACCCAAATCCATAAGGCCCATGGTGTGCTGCCACCCCCATGTGTCACAGCCTTCCCCTCCCTCAGCCCAGACCCCCTGGGCTCCCAGCACACCACCCCCCGCCAGAGGCCGTTCAGAGCCACCTGAGGCCCACTGCACAGGTGTACAAGGTGGGACCTGCTTGTTCTCGGGTAGAAATGGGAATGGCTTTGGGGTCTTCTCCCGCCACCACGCTCACCCATTGCGGTCCAGGCCAGCCCCATGACCACGCCGGGCGGTGTCACGTCATACATGCGCTCCACGGTGAACACGGGCTTCCCCACGAAGTCCTGCAGGTTCTCGGGCGTCACCTCCACGGACTCGGCCTCGCCGCTGACAATCTTGTAGACCGATTTCCGTAACACCTGGGCGGTCAGGGCAACACAATGGGCACGGGAAGGTGGGGTGACAGGTGCGGGGTGGTGGGGTGACGGGCACAGAAAGGTGTGACGGGCGCGGGGTGGTGGGGTGATGGGCGCAGGAAAGTGGGATGATGGGCATGGAAAGGTGGGGTGATCAGCGTGGGATGGTGAGGTGGGCGGCAGGTGCCAGGAGGGCGGGCTGGCCGCTCACCTTCTCCACTTGCTTCTGCAGGTTGCGGACACCGCTCTCGCGGCAGTACTGCTTGATGAGCAGCGTCAGCACGTCCGATGACAGCTTGGCCTTGCTCTCATCCAAGCCACACAGGGCGCGAGCCTGGGGCACCAGGTAGCGCTGCAAGGGCAACCGTCAGGGTTGGGTCTGGAGGGACCTTGCCCACCAGCTCAGTCTAGAACCTGGGAGCCAATGCCTCTCCCATGGCCCCCAGACCCTGGCCTGGGAACGAGGTCCCTGATGGTGAAACCAGGGCCTGGACACCCCGCCCTGCCACCCACCATGCCCAGAGGCCCCAGGCCTTTGCTTGTGCTGCGTCCTCTGCTTGGATCCACTTCCTATCCCCCAATGGTATCTTAGATGCCGCTTCCTCCAGGAAGGCCTCCTGGTTGCCCCATGGGCTGGCCCCATACACAGACCCAGGGCCTGTAGGGTGGCTGACTGGTTACGTGGCTGCTGCCCTCAGCACATGAGGAAGGGGACTGGGTCAGGGGCTCCAGGGTCACCCACAGCCCCACACAATTCTTGCCACAGTTCTGAGCTCTAATGGCATGGGGGAGGGCATCTGTGAGACGGACAGAGCCATGCAAGCCACTCTACATCTGCCACTGATACTGGGGGGCACTCCTGATGCCCTGAGGGGTCCCCATGCCCCCCAGTCCTGTCCCCAGGAACTACAGGCCCGTCCCTTGGAGAAGTCAGGCTGGGAACTGGGCCCAGCAGTGGGCATTGAAGCCCCCAGGGGACACGAGGATGCTGGGAGGGCCTCAAGGGCAGGGACCAGTGCCCACCACTGGCTGTCAAAGGGCTCCTAGGGGAGAAATGCACTCAGCACCTTTGCAGAAAAAAAAACACATGAGAAATATGGGCCCCTGCATGCTCCTCACTGAAACCACTTCTCCTCCAAGCCTCATTCTGGGTGGGAGCCACAGGCCCCACTGCTTCCGGCTGCCAGAAACCTTCCCTACACTCTGGGCCAGGTGGGGGCCCCACCATGGGGCAGCCTGGAGGCCCCGGGAGACAGAGTGTGTGGCCTGACGGTGGTGGGCGGTGTTTTGGACAGTCCCAGGCCCTAAACCCTGCGCCCACTCGCGCCACCTGCAGCTGCTCGCAAGCGTCTGGTGTGTCTCTCACGGCCCCATCTGCTCCTCGGCCGCAGGTCCCACCTGTCTCTCCCGGGCCCAGGAGCTCCCAGAGGCACGGCCTCTGCAGGCTCTGGGGGGCGCCCCCTGCTCTGGGAAGGGGACAGCAGTGGGGAGGGGCTGGGCTTACCTCCGCAATGGCCAGCTTCTCCTGGGCCACGTAGCCCGACACGTTGATCATCTCCATACGGTCTCGCAGCGGCTCGGGGATGGTGTCCGTGACGTTGGCCGTGCAGATGAACAGCACCTGGGGGCGGCGGCAAGGTGCTGGGGGACTGGCCGCTTACCCTCCCCAGCAAGCCCAGGCCCCAGACAGGCCCCCCACCTTGGACAAGTCCACGGGCACGTCCAGGTAGTGGTCCAGGAAGTTGGCATTCTGCTCTGGGTCCAGCAGCTCCAGCAGTGCCGACGACGGGTCCCCCTGGTAGCCTCGGCCGATCTTGTCCACCTGGGGCAGCAGACAGCAGGTGGTGCCCCTCGCCGTGCCCCTGGCCAGCCCGCCCAGTGGGGAGACCCCAGGGTCAGGGCTGGGGAGACCCCGAGTGAGAGCGGCACCCACACCCTGCCTTGGACGGGCAGCCTGCTGGGCGTGGCTGTGGGTGGGAGGGACCCGTCCGTGCCATCAGGGCCAGCATCACGGCGATGGCCCCTGAGTTGGCT
Task1_train_26330
The gene LONP1 (lon peptidase 1, mitochondrial) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; CODAS syndrome
CCCATGTGTCACAGCCTTCCCCTCCCTCAGCCCAGACCCCCTGGGCTCCCAGCACACCACCCCCCGCCAGAGGCCGTTCAGAGCCACCTGAGGCCCACTGCACAGGTGTACAAGGTGGGACCTGCTTGTTCTCGGGTAGAAATGGGAATGGCTTTGGGGTCTTCTCCCGCCACCACGCTCACCCATTGCGGTCCAGGCCAGCCCCATGACCACGCCGGGCGGTGTCACGTCATACATGCGCTCCACGGTGAACACGGGCTTCCCCACGAAGTCCTGCAGGTTCTCGGGCGTCACCTCCACGGACTCGGCCTCGCCGCTGACAATCTTGTAGGCCGATTTCCGTAACACCTGGGCGGTCAGGGCAACACAATGGGCACGGGAAGGTGGGGTGACAGGTGCGGGGTGGTGGGGTGACGGGCACAGAAAGGTGTGACGGGCGCGGGGTGGTGGGGTGATGGGCGCAGGAAAGTGGGATGATGGGCATGGAAAGGTGGGGTGATCAGCGTGGGATGGTGAGGTGGGCGGCAGGTGCCAGGAGGGCGGGCTGGCCGCTCACCTTCTCCACTTGCTTCTGCAGGTTGCGGACACCGCTCTCGCGGCAGTACTGCTTGATGAGCAGCGTCAGCACGTCCGATGACAGCTTGGCCTTGCTCTCATCCAAGCCACACAGGGCGCGAGCCTGGGGCACCAGGTAGCGCTGCAAGGGCAACCGTCAGGGTTGGGTCTGGAGGGACCTTGCCCACCAGCTCAGTCTAGAACCTGGGAGCCAATGCCTCTCCCATGGCCCCCAGACCCTGGCCTGGGAACGAGGTCCCTGATGGTGAAACCAGGGCCTGGACACCCCGCCCTGCCACCCACCATGCCCAGAGGCCCCAGGCCTTTGCTTGTGCTGCGTCCTCTGCTTGGATCCACTTCCTATCCCCCAATGGTATCTTAGATGCCGCTTCCTCCAGGAAGGCCTCCTGGTTGCCCCATGGGCTGGCCCCATACACAGACCCAGGGCCTGTAGGGTGGCTGACTGGTTACGTGGCTGCTGCCCTCAGCACATGAGGAAGGGGACTGGGTCAGGGGCTCCAGGGTCACCCACAGCCCCACACAATTCTTGCCACAGTTCTGAGCTCTAATGGCATGGGGGAGGGCATCTGTGAGACGGACAGAGCCATGCAAGCCACTCTACATCTGCCACTGATACTGGGGGGCACTCCTGATGCCCTGAGGGGTCCCCATGCCCCCCAGTCCTGTCCCCAGGAACTACAGGCCCGTCCCTTGGAGAAGTCAGGCTGGGAACTGGGCCCAGCAGTGGGCATTGAAGCCCCCAGGGGACACGAGGATGCTGGGAGGGCCTCAAGGGCAGGGACCAGTGCCCACCACTGGCTGTCAAAGGGCTCCTAGGGGAGAAATGCACTCAGCACCTTTGCAGAAAAAAAAACACATGAGAAATATGGGCCCCTGCATGCTCCTCACTGAAACCACTTCTCCTCCAAGCCTCATTCTGGGTGGGAGCCACAGGCCCCACTGCTTCCGGCTGCCAGAAACCTTCCCTACACTCTGGGCCAGGTGGGGGCCCCACCATGGGGCAGCCTGGAGGCCCCGGGAGACAGAGTGTGTGGCCTGACGGTGGTGGGCGGTGTTTTGGACAGTCCCAGGCCCTAAACCCTGCGCCCACTCGCGCCACCTGCAGCTGCTCGCAAGCGTCTGGTGTGTCTCTCACGGCCCCATCTGCTCCTCGGCCGCAGGTCCCACCTGTCTCTCCCGGGCCCAGGAGCTCCCAGAGGCACGGCCTCTGCAGGCTCTGGGGGGCGCCCCCTGCTCTGGGAAGGGGACAGCAGTGGGGAGGGGCTGGGCTTACCTCCGCAATGGCCAGCTTCTCCTGGGCCACGTAGCCCGACACGTTGATCATCTCCATACGGTCTCGCAGCGGCTCGGGGATGGTGTCCGTGACGTTGGCCGTGCAGATGAACAGCACCTGGGGGCGGCGGCAAGGTGCTGGGGGACTGGCCGCTTACCCTCCCCAGCAAGCCCAGGCCCCAGACAGGCCCCCCACCTTGGACAAGTCCACGGGCACGTCCAGGTAGTGGTCCAGGAAGTTGGCATTCTGCTCTGGGTCCAGCAGCTCCAGCAGTGCCGACGACGGGTCCCCCTGGTAGCCTCGGCCGATCTTGTCCACCTGGGGCAGCAGACAGCAGGTGGTGCCCCTCGCCGTGCCCCTGGCCAGCCCGCCCAGTGGGGAGACCCCAGGGTCAGGGCTGGGGAGACCCCGAGTGAGAGCGGCACCCACACCCTGCCTTGGACGGGCAGCCTGCTGGGCGTGGCTGTGGGTGGGAGGGACCCGTCCGTGCCATCAGGGCCAGCATCACGGCGATGGCCCCTGAGTTGGCTCGGGGATCCTAGGACCCGGAAGGCTCGGCTTCATCTTGCACACGGCATTGCCGGGTTAGGGGGTCTCCGGGCCTCTCCGCACGCACCTCGTCGATGAGGATCAGGGGGTTCTCCGTCTTGGTCTTCTTCAAACACTGGATGATCTTCCCGGGCATGGCGCCCACGTAGGTCCGCCTGTGGGTGCACAGCGGGGTCAGAGGTCACTTGGTAGCCTGGCTCGGCCACAACGACACCATGCACCCTCCAGGGCCACAGGGGAGAGGCCACCTGGAGCCCCACAAGATGTGGCCATGATGTGGGAGGCGGAAATGCTGGCAGCCGCCGGATGTGTGGCACCTGCAGGCACGCTGGTCACTTGCCCTGACTCGCCAGCTCAGATTCTGGGGTCACTGATTCAAAGCCAGATCTCCCTCAGTCCCATCCCTCAGCTGACACCATGGTGAAAGCCAGACAGGCGCTGGCAGCAGAAGGCCCCCACTCCTCACTGAGGGACGCCAGGCACGCCTCAGCCCTCAAGGGCTGGGGTGATACTAGCCATGGCCAGCACTGGCTCTCAGGAGGGCTTCCTGCAAGCTCTGTGCTCTGCCCCAGCACAGGGGCCCGGCCCGCGACAGGGACAGAAGAATCCCAGGCCCCACGAGAGACAGTGAGGAAGGCTCTGTCTGTGGGATGAAGACACAGGGAGGCAGGGATGGAGGGACTGAGATGCCACTGGGATGTGTGTGACACTTTAAGTGTGCAGGGGGGTAAGGAGTGTCTTAGGGAGAGGCCCCGAGCAACGCACGTGAGGAGAGAGCCACGTGAGGGTCTGAGAGATGTGTTCCAGGCCCAGGACACAGCCCGTGCAAAGGCCCTGAAACAGGACCACGCCTGGTGTGTTAGAAGAACAGTGAGGAGGCCATGAGGCTGAGGCAGAGGGAGGAGGGGGGGAGAGAAGAGGGAGGAGAGGGGGAAGAGGGAGGAGATGGAGAGGGAAGGGGGTAGAGGGAGGGGGAGGAAGAAGAGAGGGAGAGAGAGGAGGGGGTGGGGCAGGTCATGCGGGGTCCTGTGGGCTGCAGTGAGAACTTGGGCTTTGACCGAGGAACGTGGGAGCCCTGGAGAGCTGGGGGCAAAGGAGGGTTTTGCTGCTGTTAATAACAACGATCCATCGCCCCGCAGCCAGTCTCCTGTCCTTGTCCTTGTCTCAGGAACCCAGAGACGTCAGCAGACGCCTGCCCTCCCCGCAGCCCCGCTACCTGGTGACTCCCTCCCAAGGCCAGAGGTGACCCAGGCTTGTTCAGAACCCCGCCAGGGTCTCTCCTCCGGCCCGCACCTCCAGCCATCCCTGAACCAGGCTCCAAGAGGCTTCGCGACCACTTCAAACCGCTTGCCCAGGAAGGACTGGGTGCCCCCCACCCCCACCCCTCCACCTTCACCCAGCTGCTCCTTCCTGCTCAGACCCCAGCCCAACCAAGGGCCTGCAGAACAGGTCCCCTGTCCTCCCCCTCACACCCCCCACCCCCTAGTCAATCTGGGACTCCCCAAAGCTGCACTGGCCCCACCTCCTCCAGCTCCTCCCAACTCCCGGCTGGTCAGAGTGGCCGCCCCCTGGGGACTGGACACTGCGCGGGCCAGCATGCTGTCACCCTTGCAGCGGGCGGGCAGATGCTAGGAAGGCCTGAGCCGGGAGGTCGGGAGCTGGGGATGTTTTTAGAGAAGGCAGAAATGTTCACTTTAA
CCCATGTGTCACAGCCTTCCCCTCCCTCAGCCCAGACCCCCTGGGCTCCCAGCACACCACCCCCCGCCAGAGGCCGTTCAGAGCCACCTGAGGCCCACTGCACAGGTGTACAAGGTGGGACCTGCTTGTTCTCGGGTAGAAATGGGAATGGCTTTGGGGTCTTCTCCCGCCACCACGCTCACCCATTGCGGTCCAGGCCAGCCCCATGACCACGCCGGGCGGTGTCACGTCATACATGCGCTCCACGGTGAACACGGGCTTCCCCACGAAGTCCTGCAGGTTCTCGGGCGTCACCTCCACGGACTCGGCCTCGCCGCTGACAATCTTGTAGGCCGATTTCCGTAACACCTGGGCGGTCAGGGCAACACAATGGGCACGGGAAGGTGGGGTGACAGGTGCGGGGTGGTGGGGTGACGGGCACAGAAAGGTGTGACGGGCGCGGGGTGGTGGGGTGATGGGCGCAGGAAAGTGGGATGATGGGCATGGAAAGGTGGGGTGATCAGCGTGGGATGGTGAGGTGGGCGGCAGGTGCCAGGAGGGCGGGCTGGCCGCTCACCTTCTCCACTTGCTTCTGCAGGTTGCGGACACCGCTCTCGCGGCAGTACTGCTTGATGAGCAGCGTCAGCACGTCCGATGACAGCTTGGCCTTGCTCTCATCCAAGCCACACAGGGCGCGAGCCTGGGGCACCAGGTAGCGCTGCAAGGGCAACCGTCAGGGTTGGGTCTGGAGGGACCTTGCCCACCAGCTCAGTCTAGAACCTGGGAGCCAATGCCTCTCCCATGGCCCCCAGACCCTGGCCTGGGAACGAGGTCCCTGATGGTGAAACCAGGGCCTGGACACCCCGCCCTGCCACCCACCATGCCCAGAGGCCCCAGGCCTTTGCTTGTGCTGCGTCCTCTGCTTGGATCCACTTCCTATCCCCCAATGGTATCTTAGATGCCGCTTCCTCCAGGAAGGCCTCCTGGTTGCCCCATGGGCTGGCCCCATACACAGACCCAGGGCCTGTAGGGTGGCTGACTGGTTACGTGGCTGCTGCCCTCAGCACATGAGGAAGGGGACTGGGTCAGGGGCTCCAGGGTCACCCACAGCCCCACACAATTCTTGCCACAGTTCTGAGCTCTAATGGCATGGGGGAGGGCATCTGTGAGACGGACAGAGCCATGCAAGCCACTCTACATCTGCCACTGATACTGGGGGGCACTCCTGATGCCCTGAGGGGTCCCCATGCCCCCCAGTCCTGTCCCCAGGAACTACAGGCCCGTCCCTTGGAGAAGTCAGGCTGGGAACTGGGCCCAGCAGTGGGCATTGAAGCCCCCAGGGGACACGAGGATGCTGGGAGGGCCTCAAGGGCAGGGACCAGTGCCCACCACTGGCTGTCAAAGGGCTCCTAGGGGAGAAATGCACTCAGCACCTTTGCAGAAAAAAAAACACATGAGAAATATGGGCCCCTGCATGCTCCTCACTGAAACCACTTCTCCTCCAAGCCTCATTCTGGGTGGGAGCCACAGGCCCCACTGCTTCCGGCTGCCAGAAACCTTCCCTACACTCTGGGCCAGGTGGGGGCCCCACCATGGGGCAGCCTGGAGGCCCCGGGAGACAGAGTGTGTGGCCTGACGGTGGTGGGCGGTGTTTTGGACAGTCCCAGGCCCTAAACCCTGCGCCCACTCGCGCCACCTGCAGCTGCTCGCAAGCGTCTGGTGTGTCTCTCACGGCCCCATCTGCTCCTCGGCCGCAGGTCCCACCTGTCTCTCCCGGGCCCAGGAGCTCCCAGAGGCACGGCCTCTGCAGGCTCTGGGGGGCGCCCCCTGCTCTGGGAAGGGGACAGCAGTGGGGAGGGGCTGGGCTTACCTCCGCAATGGCCAGCTTCTCCTGGGCCACGTAGCCCGACACGTTGATCATCTCCATACGGTCTCGCAGCGGCTCGGGGATGGTGTCCGTGACGTTGGCCGTGCAGATGAACAGCACCTGGGGGCGGCGGCAAGGTGCTGGGGGACTGGCCGCTTACCCTCCCCAGCAAGCCCAGGCCCCAGACAGGCCCCCCACCTTGTACAAGTCCACGGGCACGTCCAGGTAGTGGTCCAGGAAGTTGGCATTCTGCTCTGGGTCCAGCAGCTCCAGCAGTGCCGACGACGGGTCCCCCTGGTAGCCTCGGCCGATCTTGTCCACCTGGGGCAGCAGACAGCAGGTGGTGCCCCTCGCCGTGCCCCTGGCCAGCCCGCCCAGTGGGGAGACCCCAGGGTCAGGGCTGGGGAGACCCCGAGTGAGAGCGGCACCCACACCCTGCCTTGGACGGGCAGCCTGCTGGGCGTGGCTGTGGGTGGGAGGGACCCGTCCGTGCCATCAGGGCCAGCATCACGGCGATGGCCCCTGAGTTGGCTCGGGGATCCTAGGACCCGGAAGGCTCGGCTTCATCTTGCACACGGCATTGCCGGGTTAGGGGGTCTCCGGGCCTCTCCGCACGCACCTCGTCGATGAGGATCAGGGGGTTCTCCGTCTTGGTCTTCTTCAAACACTGGATGATCTTCCCGGGCATGGCGCCCACGTAGGTCCGCCTGTGGGTGCACAGCGGGGTCAGAGGTCACTTGGTAGCCTGGCTCGGCCACAACGACACCATGCACCCTCCAGGGCCACAGGGGAGAGGCCACCTGGAGCCCCACAAGATGTGGCCATGATGTGGGAGGCGGAAATGCTGGCAGCCGCCGGATGTGTGGCACCTGCAGGCACGCTGGTCACTTGCCCTGACTCGCCAGCTCAGATTCTGGGGTCACTGATTCAAAGCCAGATCTCCCTCAGTCCCATCCCTCAGCTGACACCATGGTGAAAGCCAGACAGGCGCTGGCAGCAGAAGGCCCCCACTCCTCACTGAGGGACGCCAGGCACGCCTCAGCCCTCAAGGGCTGGGGTGATACTAGCCATGGCCAGCACTGGCTCTCAGGAGGGCTTCCTGCAAGCTCTGTGCTCTGCCCCAGCACAGGGGCCCGGCCCGCGACAGGGACAGAAGAATCCCAGGCCCCACGAGAGACAGTGAGGAAGGCTCTGTCTGTGGGATGAAGACACAGGGAGGCAGGGATGGAGGGACTGAGATGCCACTGGGATGTGTGTGACACTTTAAGTGTGCAGGGGGGTAAGGAGTGTCTTAGGGAGAGGCCCCGAGCAACGCACGTGAGGAGAGAGCCACGTGAGGGTCTGAGAGATGTGTTCCAGGCCCAGGACACAGCCCGTGCAAAGGCCCTGAAACAGGACCACGCCTGGTGTGTTAGAAGAACAGTGAGGAGGCCATGAGGCTGAGGCAGAGGGAGGAGGGGGGGAGAGAAGAGGGAGGAGAGGGGGAAGAGGGAGGAGATGGAGAGGGAAGGGGGTAGAGGGAGGGGGAGGAAGAAGAGAGGGAGAGAGAGGAGGGGGTGGGGCAGGTCATGCGGGGTCCTGTGGGCTGCAGTGAGAACTTGGGCTTTGACCGAGGAACGTGGGAGCCCTGGAGAGCTGGGGGCAAAGGAGGGTTTTGCTGCTGTTAATAACAACGATCCATCGCCCCGCAGCCAGTCTCCTGTCCTTGTCCTTGTCTCAGGAACCCAGAGACGTCAGCAGACGCCTGCCCTCCCCGCAGCCCCGCTACCTGGTGACTCCCTCCCAAGGCCAGAGGTGACCCAGGCTTGTTCAGAACCCCGCCAGGGTCTCTCCTCCGGCCCGCACCTCCAGCCATCCCTGAACCAGGCTCCAAGAGGCTTCGCGACCACTTCAAACCGCTTGCCCAGGAAGGACTGGGTGCCCCCCACCCCCACCCCTCCACCTTCACCCAGCTGCTCCTTCCTGCTCAGACCCCAGCCCAACCAAGGGCCTGCAGAACAGGTCCCCTGTCCTCCCCCTCACACCCCCCACCCCCTAGTCAATCTGGGACTCCCCAAAGCTGCACTGGCCCCACCTCCTCCAGCTCCTCCCAACTCCCGGCTGGTCAGAGTGGCCGCCCCCTGGGGACTGGACACTGCGCGGGCCAGCATGCTGTCACCCTTGCAGCGGGCGGGCAGATGCTAGGAAGGCCTGAGCCGGGAGGTCGGGAGCTGGGGATGTTTTTAGAGAAGGCAGAAATGTTCACTTTAA
Task1_train_26331
Gene CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Perrault syndrome 3
TGTTATCGCACAGCTCCTCTTCCTGCAATCCGAGAGCAACAAGAAGCCCATCCACATGTACATCAACAGCCCTGGTGAGCAGGGTCTTTCCTGGGTGCCAGGGGCACTCGTCAGGGCACACGGGTGACTCAGGGGACCAGAATCCCGGGTCAGGGATGTTCTCTCTCTGGGAAAGGGTGCAGAGCGTCAGAGTTCCAGAAGTGGCTTTAAACCACCAAAAGGTGCCTGTTGCTGGCTTTTGAGCCTCGGTTCACAAGTCAGGATGTGGCCTCTTTGATCCTGCACATACTGTTCTGCCAACCTGACCCGGCTGACATTTAAAAATTGGTAGATTTTAGGCCGGGCACAGTGGCTCACACCGGTAATCCCAACACTTTGGGAGGCTGAGGCGGGCGGATTGCTCGAGCTCAGGAGTTCAAGACCAGCCTGGGTAACGTAGTGAGACCCCATCTCTACAAAAAAAGTACAAAGATTAGCCGGGCAATGTGGCGTGTGCCTGTAGTCCCAGCAACTCGGAAGGCTGAGGGAGAAGGATCACTTGAGCCCAGGAGGTCGAGGCTGTAGTGAGCCCATCTCAAAAATAATCATAATTGGTAGATTTTTTCCCCCTCCCCAAAAAAAGTAGTCAATTTTGATTGAGCACTTATGATGGAGGCATTTTTTTTTTTTTTTATTGAGATGGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGTTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTTGGGTTCAAGCGATTCTCCAGCTTCAGCCTCTCAAGTAGCTGGGGATTACAGGCATGTGCCACCATGCCTGTCTAATTTTTTGTATTTCGTAGAGATGATGTTTCACCATGTTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGATTTCTAGTTTCTCTTGGAAATTTAGTAGATCTGATCCCATGGTCCACTGGCACATCTGGCAAGAGTCAGCTGACTGTAAAGCAAGCGCTCTGCCTTTTGCCTGCACCTGGGCCGTGTCACTTGTTTTTGTCACCTCCCAACCCCTGGAAGCATTTGTGTTTGTGAACCCTGCTTTAAAGAGCTGCTTCTAGACCGGACGCAGTGGCTTACGCTTGTCATTCCAGCACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGGCCAACGTGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTACTTGTAATCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCATAAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCTACTGCACTCCAGCCTACGTGACAGTGAGACTCAGTCTCAAAAAAAAAAAAATAGCTGCTTCTGGCTGGGCATGGTGGCTCACACGTGTAATCCCAACACTTTGGGAGGATTGCTTGAGCCCAGGAGTTCGAGATCAGCCTGGGCAACATAGTGAAAGCAGTGAAACCCAGTCTTAATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGTTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCTATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTGCTGCCTCAGCCTCCGGAATAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATATTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACAGCGCCCAGTCATATTAATTTTTAAAAAAGGAGGGGGGCTGCATCTGTTCCACCCTCCCCAGGTTTAGGAGATGGAATAGGGAAAGGGTCGGGGGGAGCTGGTCCAGCCCCTCACTTGCTCCCCCGCCCACAGGTGGTGTGGTGACCGCGGGCCTGGCCATCTACGACACGATGCAGTACATCCTCAACCCGATCTGCACCTGGTGCGTGGGCCAGGCCGCCAGCATGGGCTCCCTGCTTCTCGCCGCCGGCACCCCAGGCATGCGCCACTCGCTCCCCAACTCCCGTATCATGATCCACCAGCCCTCAGGAGGCGCCCGGGTGAGTGCCAGACACGCGAGCTGCTGTTGGGAATCAGGACAGGGTCTAGACAGAAGGACTGACTGGGCGGAAGTCAAGCGTGGGAGGGGATGTTTTTTTTTTTTTTTGAGATGGAGTCTCACTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTTCTGCCTGAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACATTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCGCTGGGCCAGCCGGGAGTGGATGTCTTAAAATGTGCAGGCCAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCTAGCACTTCGGGAGACAGAGGCGGGAGGATCACGTGAGCTCAGGAGTTCGAGGCCAGCCAGGGGAACATAATGAGACCTTGTCTCTATTAAAGAAAAAAAAAAAAAAGGCCAGGCATGGTGGCTCACGCCTGTAAATCTTGACACTTTGGGAAGCTGGAGCAGGTGGATCATTTGAGGTCAGGAATTCTAAACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGCGTGCCCATAATCCCAGCTGTTTTGGGAGGCTGAGATAGGAGAATCACTTGAACCCAGGAGGTGGAAGTGAGCTGAGATTGCGCCACTGCACTCAAGCCTGGATGACAGAGCAAGACTCTGTCTCAAAACAACAAAGGGAAAAAAAGAAAATGCACTGAGGAGTTGTTTGCTGTCTCTTGAGAATTAGCTTCAGCTGGGCACAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCCAAGAGTTTAAGACCAGCCTGGGCAATGGTGAGACCCCATCTCTACCAAATATTTAAAATGACTCGGGCATGGTTATGCTTGCCTCTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGTGAGGTGAAGGCTGCAATGAGCTGTCTTGTACCACTGCATTCCAGCCCCAGCAACAGAGGAAGACCCTGTCTCAAAAAAAAAAAAAGGCGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACAGGAGGATCACTTGAGGCCGGGAGTTTGAGACCAGTCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAAAAACAAAAAACAAACAAAAAAAAGGCTTAGCTAATGCTGAGACAGAGAGACACTGTTCCTCCCAGTCTGCAAGGCTTCAGATGCAGAAAATAACATATACTTAATCCAGTCAGAAAGCCTTCCTGGTAGTGGCAAGACTGAAGCAGGATATCGGGGGATTTACACAACCCCAGCCCACCAGCCTCAAACCGGAAGCCCAAAGCCCAGGGAAGCTCCTGAGTGCCACCTCCAGCCTCCCTGTGAGGGGCTGACGCCGATACCAACCTTTACCCCCTCACTCCCTTGGACGTCCCTCAGGGCCAAGCCACAGACATTGCCATCCAGGCAGAGGAGATCATGAAGCTCAAGAAGCAGCTCTATAACATCTACGCCAAGCACACCAAACAGAGCCTGCAGGTGATCGGTAAGCACCCTCCTTTATTTCATCCTGGTCCGTGCACAGACGGACCAGGCGTTGCTCTAAGCCAGGGCTTCTCCACCTGGCCCCTGCGGACTTTCAGGGCTGGATCGTTCTCTGGGATGGGGGGACCATCCCAGAGGTCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACTAAAAATGGTGTACTTGTAA
TGTTATCGCACAGCTCCTCTTCCTGCAATCCGAGAGCAACAAGAAGCCCATCCACATGTACATCAACAGCCCTGGTGAGCAGGGTCTTTCCTGGGTGCCAGGGGCACTCGTCAGGGCACACGGGTGACTCAGGGGACCAGAATCCCGGGTCAGGGATGTTCTCTCTCTGGGAAAGGGTGCAGAGCGTCAGAGTTCCAGAAGTGGCTTTAAACCACCAAAAGGTGCCTGTTGCTGGCTTTTGAGCCTCGGTTCACAAGTCAGGATGTGGCCTCTTTGATCCTGCACATACTGTTCTGCCAACCTGACCCGGCTGACATTTAAAAATTGGTAGATTTTAGGCCGGGCACAGTGGCTCACACCGGTAATCCCAACACTTTGGGAGGCTGAGGCGGGCGGATTGCTCGAGCTCAGGAGTTCAAGACCAGCCTGGGTAACGTAGTGAGACCCCATCTCTACAAAAAAAGTACAAAGATTAGCCGGGCAATGTGGCGTGTGCCTGTAGTCCCAGCAACTCGGAAGGCTGAGGGAGAAGGATCACTTGAGCCCAGGAGGTCGAGGCTGTAGTGAGCCCATCTCAAAAATAATCATAATTGGTAGATTTTTTCCCCCTCCCCAAAAAAAGTAGTCAATTTTGATTGAGCACTTATGATGGAGGCATTTTTTTTTTTTTTTATTGAGATGGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGTTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTTGGGTTCAAGCGATTCTCCAGCTTCAGCCTCTCAAGTAGCTGGGGATTACAGGCATGTGCCACCATGCCTGTCTAATTTTTTGTATTTCGTAGAGATGATGTTTCACCATGTTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGATTTCTAGTTTCTCTTGGAAATTTAGTAGATCTGATCCCATGGTCCACTGGCACATCTGGCAAGAGTCAGCTGACTGTAAAGCAAGCGCTCTGCCTTTTGCCTGCACCTGGGCCGTGTCACTTGTTTTTGTCACCTCCCAACCCCTGGAAGCATTTGTGTTTGTGAACCCTGCTTTAAAGAGCTGCTTCTAGACCGGACGCAGTGGCTTACGCTTGTCATTCCAGCACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGGCCAACGTGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTACTTGTAATCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCATAAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCTACTGCACTCCAGCCTACGTGACAGTGAGACTCAGTCTCAAAAAAAAAAAAATAGCTGCTTCTGGCTGGGCATGGTGGCTCACACGTGTAATCCCAACACTTTGGGAGGATTGCTTGAGCCCAGGAGTTCGAGATCAGCCTGGGCAACATAGTGAAAGCAGTGAAACCCAGTCTTAATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGTTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCTATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTGCTGCCTCAGCCTCCGGAATAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATATTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACAGCGCCCAGTCATATTAATTTTTAAAAAAGGAGGGGGGCTGCATCTGTTCCACCCTCCCCAGGTTTAGGAGATGGAATAGGGAAAGGGTCGGGGGGAGCTGGTCCAGCCCCTCACTTGCTCCCCCGCCCACAGGTGGTGTGGTGACCGCGGGCCTGGCCATCTACGACACGATGCAGTACATCCTCAACCCGATCTGCCCCTGGTGCGTGGGCCAGGCCGCCAGCATGGGCTCCCTGCTTCTCGCCGCCGGCACCCCAGGCATGCGCCACTCGCTCCCCAACTCCCGTATCATGATCCACCAGCCCTCAGGAGGCGCCCGGGTGAGTGCCAGACACGCGAGCTGCTGTTGGGAATCAGGACAGGGTCTAGACAGAAGGACTGACTGGGCGGAAGTCAAGCGTGGGAGGGGATGTTTTTTTTTTTTTTTGAGATGGAGTCTCACTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTTCTGCCTGAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACATTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCGCTGGGCCAGCCGGGAGTGGATGTCTTAAAATGTGCAGGCCAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCTAGCACTTCGGGAGACAGAGGCGGGAGGATCACGTGAGCTCAGGAGTTCGAGGCCAGCCAGGGGAACATAATGAGACCTTGTCTCTATTAAAGAAAAAAAAAAAAAAGGCCAGGCATGGTGGCTCACGCCTGTAAATCTTGACACTTTGGGAAGCTGGAGCAGGTGGATCATTTGAGGTCAGGAATTCTAAACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGCGTGCCCATAATCCCAGCTGTTTTGGGAGGCTGAGATAGGAGAATCACTTGAACCCAGGAGGTGGAAGTGAGCTGAGATTGCGCCACTGCACTCAAGCCTGGATGACAGAGCAAGACTCTGTCTCAAAACAACAAAGGGAAAAAAAGAAAATGCACTGAGGAGTTGTTTGCTGTCTCTTGAGAATTAGCTTCAGCTGGGCACAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCCAAGAGTTTAAGACCAGCCTGGGCAATGGTGAGACCCCATCTCTACCAAATATTTAAAATGACTCGGGCATGGTTATGCTTGCCTCTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGTGAGGTGAAGGCTGCAATGAGCTGTCTTGTACCACTGCATTCCAGCCCCAGCAACAGAGGAAGACCCTGTCTCAAAAAAAAAAAAAGGCGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACAGGAGGATCACTTGAGGCCGGGAGTTTGAGACCAGTCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAAAAACAAAAAACAAACAAAAAAAAGGCTTAGCTAATGCTGAGACAGAGAGACACTGTTCCTCCCAGTCTGCAAGGCTTCAGATGCAGAAAATAACATATACTTAATCCAGTCAGAAAGCCTTCCTGGTAGTGGCAAGACTGAAGCAGGATATCGGGGGATTTACACAACCCCAGCCCACCAGCCTCAAACCGGAAGCCCAAAGCCCAGGGAAGCTCCTGAGTGCCACCTCCAGCCTCCCTGTGAGGGGCTGACGCCGATACCAACCTTTACCCCCTCACTCCCTTGGACGTCCCTCAGGGCCAAGCCACAGACATTGCCATCCAGGCAGAGGAGATCATGAAGCTCAAGAAGCAGCTCTATAACATCTACGCCAAGCACACCAAACAGAGCCTGCAGGTGATCGGTAAGCACCCTCCTTTATTTCATCCTGGTCCGTGCACAGACGGACCAGGCGTTGCTCTAAGCCAGGGCTTCTCCACCTGGCCCCTGCGGACTTTCAGGGCTGGATCGTTCTCTGGGATGGGGGGACCATCCCAGAGGTCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACTAAAAATGGTGTACTTGTAA
Task1_train_26332
A variant found in Chromosome 19 affects CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Perrault syndrome 3
GCACAGCTCCTCTTCCTGCAATCCGAGAGCAACAAGAAGCCCATCCACATGTACATCAACAGCCCTGGTGAGCAGGGTCTTTCCTGGGTGCCAGGGGCACTCGTCAGGGCACACGGGTGACTCAGGGGACCAGAATCCCGGGTCAGGGATGTTCTCTCTCTGGGAAAGGGTGCAGAGCGTCAGAGTTCCAGAAGTGGCTTTAAACCACCAAAAGGTGCCTGTTGCTGGCTTTTGAGCCTCGGTTCACAAGTCAGGATGTGGCCTCTTTGATCCTGCACATACTGTTCTGCCAACCTGACCCGGCTGACATTTAAAAATTGGTAGATTTTAGGCCGGGCACAGTGGCTCACACCGGTAATCCCAACACTTTGGGAGGCTGAGGCGGGCGGATTGCTCGAGCTCAGGAGTTCAAGACCAGCCTGGGTAACGTAGTGAGACCCCATCTCTACAAAAAAAGTACAAAGATTAGCCGGGCAATGTGGCGTGTGCCTGTAGTCCCAGCAACTCGGAAGGCTGAGGGAGAAGGATCACTTGAGCCCAGGAGGTCGAGGCTGTAGTGAGCCCATCTCAAAAATAATCATAATTGGTAGATTTTTTCCCCCTCCCCAAAAAAAGTAGTCAATTTTGATTGAGCACTTATGATGGAGGCATTTTTTTTTTTTTTTATTGAGATGGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGTTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTTGGGTTCAAGCGATTCTCCAGCTTCAGCCTCTCAAGTAGCTGGGGATTACAGGCATGTGCCACCATGCCTGTCTAATTTTTTGTATTTCGTAGAGATGATGTTTCACCATGTTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGATTTCTAGTTTCTCTTGGAAATTTAGTAGATCTGATCCCATGGTCCACTGGCACATCTGGCAAGAGTCAGCTGACTGTAAAGCAAGCGCTCTGCCTTTTGCCTGCACCTGGGCCGTGTCACTTGTTTTTGTCACCTCCCAACCCCTGGAAGCATTTGTGTTTGTGAACCCTGCTTTAAAGAGCTGCTTCTAGACCGGACGCAGTGGCTTACGCTTGTCATTCCAGCACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGGCCAACGTGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTACTTGTAATCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCATAAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCTACTGCACTCCAGCCTACGTGACAGTGAGACTCAGTCTCAAAAAAAAAAAAATAGCTGCTTCTGGCTGGGCATGGTGGCTCACACGTGTAATCCCAACACTTTGGGAGGATTGCTTGAGCCCAGGAGTTCGAGATCAGCCTGGGCAACATAGTGAAAGCAGTGAAACCCAGTCTTAATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGTTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCTATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTGCTGCCTCAGCCTCCGGAATAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATATTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACAGCGCCCAGTCATATTAATTTTTAAAAAAGGAGGGGGGCTGCATCTGTTCCACCCTCCCCAGGTTTAGGAGATGGAATAGGGAAAGGGTCGGGGGGAGCTGGTCCAGCCCCTCACTTGCTCCCCCGCCCACAGGTGGTGTGGTGACCGCGGGCCTGGCCATCTACGACACGATGCAGTACATCCTCAACCCGATCTGCACCTGGTGCGTGGGCCAGGCCGCCAGCATGGGCTCCCTGCTTCTCGCCGCCGGCACCCCAGGCATGCGCCACTCGCTCCCCAACTCCCGTATCATGATCCACCAGCCCTCAGGAGGCGCCCGGGTGAGTGCCAGACACGCGAGCTGCTGTTGGGAATCAGGACAGGGTCTAGACAGAAGGACTGACTGGGCGGAAGTCAAGCGTGGGAGGGGATGTTTTTTTTTTTTTTTGAGATGGAGTCTCACTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTTCTGCCTGAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACATTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCGCTGGGCCAGCCGGGAGTGGATGTCTTAAAATGTGCAGGCCAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCTAGCACTTCGGGAGACAGAGGCGGGAGGATCACGTGAGCTCAGGAGTTCGAGGCCAGCCAGGGGAACATAATGAGACCTTGTCTCTATTAAAGAAAAAAAAAAAAAAGGCCAGGCATGGTGGCTCACGCCTGTAAATCTTGACACTTTGGGAAGCTGGAGCAGGTGGATCATTTGAGGTCAGGAATTCTAAACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGCGTGCCCATAATCCCAGCTGTTTTGGGAGGCTGAGATAGGAGAATCACTTGAACCCAGGAGGTGGAAGTGAGCTGAGATTGCGCCACTGCACTCAAGCCTGGATGACAGAGCAAGACTCTGTCTCAAAACAACAAAGGGAAAAAAAGAAAATGCACTGAGGAGTTGTTTGCTGTCTCTTGAGAATTAGCTTCAGCTGGGCACAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCCAAGAGTTTAAGACCAGCCTGGGCAATGGTGAGACCCCATCTCTACCAAATATTTAAAATGACTCGGGCATGGTTATGCTTGCCTCTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGTGAGGTGAAGGCTGCAATGAGCTGTCTTGTACCACTGCATTCCAGCCCCAGCAACAGAGGAAGACCCTGTCTCAAAAAAAAAAAAAGGCGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACAGGAGGATCACTTGAGGCCGGGAGTTTGAGACCAGTCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAAAAACAAAAAACAAACAAAAAAAAGGCTTAGCTAATGCTGAGACAGAGAGACACTGTTCCTCCCAGTCTGCAAGGCTTCAGATGCAGAAAATAACATATACTTAATCCAGTCAGAAAGCCTTCCTGGTAGTGGCAAGACTGAAGCAGGATATCGGGGGATTTACACAACCCCAGCCCACCAGCCTCAAACCGGAAGCCCAAAGCCCAGGGAAGCTCCTGAGTGCCACCTCCAGCCTCCCTGTGAGGGGCTGACGCCGATACCAACCTTTACCCCCTCACTCCCTTGGACGTCCCTCAGGGCCAAGCCACAGACATTGCCATCCAGGCAGAGGAGATCATGAAGCTCAAGAAGCAGCTCTATAACATCTACGCCAAGCACACCAAACAGAGCCTGCAGGTGATCGGTAAGCACCCTCCTTTATTTCATCCTGGTCCGTGCACAGACGGACCAGGCGTTGCTCTAAGCCAGGGCTTCTCCACCTGGCCCCTGCGGACTTTCAGGGCTGGATCGTTCTCTGGGATGGGGGGACCATCCCAGAGGTCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACTAAAAATGGTGTACTTGTAATCCAGTT
GCACAGCTCCTCTTCCTGCAATCCGAGAGCAACAAGAAGCCCATCCACATGTACATCAACAGCCCTGGTGAGCAGGGTCTTTCCTGGGTGCCAGGGGCACTCGTCAGGGCACACGGGTGACTCAGGGGACCAGAATCCCGGGTCAGGGATGTTCTCTCTCTGGGAAAGGGTGCAGAGCGTCAGAGTTCCAGAAGTGGCTTTAAACCACCAAAAGGTGCCTGTTGCTGGCTTTTGAGCCTCGGTTCACAAGTCAGGATGTGGCCTCTTTGATCCTGCACATACTGTTCTGCCAACCTGACCCGGCTGACATTTAAAAATTGGTAGATTTTAGGCCGGGCACAGTGGCTCACACCGGTAATCCCAACACTTTGGGAGGCTGAGGCGGGCGGATTGCTCGAGCTCAGGAGTTCAAGACCAGCCTGGGTAACGTAGTGAGACCCCATCTCTACAAAAAAAGTACAAAGATTAGCCGGGCAATGTGGCGTGTGCCTGTAGTCCCAGCAACTCGGAAGGCTGAGGGAGAAGGATCACTTGAGCCCAGGAGGTCGAGGCTGTAGTGAGCCCATCTCAAAAATAATCATAATTGGTAGATTTTTTCCCCCTCCCCAAAAAAAGTAGTCAATTTTGATTGAGCACTTATGATGGAGGCATTTTTTTTTTTTTTTATTGAGATGGAGTCTCGTTCTGTCACCCAGGCTGGAGTGCAGTGTTGCAATCTCAGCTCACTGCAACCTCTGCCTCCTTGGGTTCAAGCGATTCTCCAGCTTCAGCCTCTCAAGTAGCTGGGGATTACAGGCATGTGCCACCATGCCTGTCTAATTTTTTGTATTTCGTAGAGATGATGTTTCACCATGTTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTGATTTCTAGTTTCTCTTGGAAATTTAGTAGATCTGATCCCATGGTCCACTGGCACATCTGGCAAGAGTCAGCTGACTGTAAAGCAAGCGCTCTGCCTTTTGCCTGCACCTGGGCCGTGTCACTTGTTTTTGTCACCTCCCAACCCCTGGAAGCATTTGTGTTTGTGAACCCTGCTTTAAAGAGCTGCTTCTAGACCGGACGCAGTGGCTTACGCTTGTCATTCCAGCACTTTGGGAGGCTGAAGTGGGCTGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGGCCAACGTGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTACTTGTAATCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCATAAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCTACTGCACTCCAGCCTACGTGACAGTGAGACTCAGTCTCAAAAAAAAAAAAATAGCTGCTTCTGGCTGGGCATGGTGGCTCACACGTGTAATCCCAACACTTTGGGAGGATTGCTTGAGCCCAGGAGTTCGAGATCAGCCTGGGCAACATAGTGAAAGCAGTGAAACCCAGTCTTAATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGTTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCTATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTGCTGCCTCAGCCTCCGGAATAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATATTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATTTCCTGACCTTGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACAGCGCCCAGTCATATTAATTTTTAAAAAAGGAGGGGGGCTGCATCTGTTCCACCCTCCCCAGGTTTAGGAGATGGAATAGGGAAAGGGTCGGGGGGAGCTGGTCCAGCCCCTCACTTGCTCCCCCGCCCACAGGTGGTGTGGTGACCGCGGGCCTGGCCATCTACGACACGATGCAGTACATCCTCAACCCGATCTGCACCTGGTCCGTGGGCCAGGCCGCCAGCATGGGCTCCCTGCTTCTCGCCGCCGGCACCCCAGGCATGCGCCACTCGCTCCCCAACTCCCGTATCATGATCCACCAGCCCTCAGGAGGCGCCCGGGTGAGTGCCAGACACGCGAGCTGCTGTTGGGAATCAGGACAGGGTCTAGACAGAAGGACTGACTGGGCGGAAGTCAAGCGTGGGAGGGGATGTTTTTTTTTTTTTTTGAGATGGAGTCTCACTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTTCTGCCTGAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACATTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCGCTGGGCCAGCCGGGAGTGGATGTCTTAAAATGTGCAGGCCAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCTAGCACTTCGGGAGACAGAGGCGGGAGGATCACGTGAGCTCAGGAGTTCGAGGCCAGCCAGGGGAACATAATGAGACCTTGTCTCTATTAAAGAAAAAAAAAAAAAAGGCCAGGCATGGTGGCTCACGCCTGTAAATCTTGACACTTTGGGAAGCTGGAGCAGGTGGATCATTTGAGGTCAGGAATTCTAAACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGCGTGCCCATAATCCCAGCTGTTTTGGGAGGCTGAGATAGGAGAATCACTTGAACCCAGGAGGTGGAAGTGAGCTGAGATTGCGCCACTGCACTCAAGCCTGGATGACAGAGCAAGACTCTGTCTCAAAACAACAAAGGGAAAAAAAGAAAATGCACTGAGGAGTTGTTTGCTGTCTCTTGAGAATTAGCTTCAGCTGGGCACAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCCAAGAGTTTAAGACCAGCCTGGGCAATGGTGAGACCCCATCTCTACCAAATATTTAAAATGACTCGGGCATGGTTATGCTTGCCTCTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGTGAGGTGAAGGCTGCAATGAGCTGTCTTGTACCACTGCATTCCAGCCCCAGCAACAGAGGAAGACCCTGTCTCAAAAAAAAAAAAAGGCGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACAGGAGGATCACTTGAGGCCGGGAGTTTGAGACCAGTCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAAAAACAAAAAACAAACAAAAAAAAGGCTTAGCTAATGCTGAGACAGAGAGACACTGTTCCTCCCAGTCTGCAAGGCTTCAGATGCAGAAAATAACATATACTTAATCCAGTCAGAAAGCCTTCCTGGTAGTGGCAAGACTGAAGCAGGATATCGGGGGATTTACACAACCCCAGCCCACCAGCCTCAAACCGGAAGCCCAAAGCCCAGGGAAGCTCCTGAGTGCCACCTCCAGCCTCCCTGTGAGGGGCTGACGCCGATACCAACCTTTACCCCCTCACTCCCTTGGACGTCCCTCAGGGCCAAGCCACAGACATTGCCATCCAGGCAGAGGAGATCATGAAGCTCAAGAAGCAGCTCTATAACATCTACGCCAAGCACACCAAACAGAGCCTGCAGGTGATCGGTAAGCACCCTCCTTTATTTCATCCTGGTCCGTGCACAGACGGACCAGGCGTTGCTCTAAGCCAGGGCTTCTCCACCTGGCCCCTGCGGACTTTCAGGGCTGGATCGTTCTCTGGGATGGGGGGACCATCCCAGAGGTCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACTAAAAATGGTGTACTTGTAATCCAGTT
Task1_train_26333
Here is a genetic alteration in CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Perrault syndrome 3
CCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACAGCGCCCAGTCATATTAATTTTTAAAAAAGGAGGGGGGCTGCATCTGTTCCACCCTCCCCAGGTTTAGGAGATGGAATAGGGAAAGGGTCGGGGGGAGCTGGTCCAGCCCCTCACTTGCTCCCCCGCCCACAGGTGGTGTGGTGACCGCGGGCCTGGCCATCTACGACACGATGCAGTACATCCTCAACCCGATCTGCACCTGGTGCGTGGGCCAGGCCGCCAGCATGGGCTCCCTGCTTCTCGCCGCCGGCACCCCAGGCATGCGCCACTCGCTCCCCAACTCCCGTATCATGATCCACCAGCCCTCAGGAGGCGCCCGGGTGAGTGCCAGACACGCGAGCTGCTGTTGGGAATCAGGACAGGGTCTAGACAGAAGGACTGACTGGGCGGAAGTCAAGCGTGGGAGGGGATGTTTTTTTTTTTTTTTGAGATGGAGTCTCACTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTTCTGCCTGAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACATTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCGCTGGGCCAGCCGGGAGTGGATGTCTTAAAATGTGCAGGCCAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCTAGCACTTCGGGAGACAGAGGCGGGAGGATCACGTGAGCTCAGGAGTTCGAGGCCAGCCAGGGGAACATAATGAGACCTTGTCTCTATTAAAGAAAAAAAAAAAAAAGGCCAGGCATGGTGGCTCACGCCTGTAAATCTTGACACTTTGGGAAGCTGGAGCAGGTGGATCATTTGAGGTCAGGAATTCTAAACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGCGTGCCCATAATCCCAGCTGTTTTGGGAGGCTGAGATAGGAGAATCACTTGAACCCAGGAGGTGGAAGTGAGCTGAGATTGCGCCACTGCACTCAAGCCTGGATGACAGAGCAAGACTCTGTCTCAAAACAACAAAGGGAAAAAAAGAAAATGCACTGAGGAGTTGTTTGCTGTCTCTTGAGAATTAGCTTCAGCTGGGCACAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCCAAGAGTTTAAGACCAGCCTGGGCAATGGTGAGACCCCATCTCTACCAAATATTTAAAATGACTCGGGCATGGTTATGCTTGCCTCTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGTGAGGTGAAGGCTGCAATGAGCTGTCTTGTACCACTGCATTCCAGCCCCAGCAACAGAGGAAGACCCTGTCTCAAAAAAAAAAAAAGGCGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACAGGAGGATCACTTGAGGCCGGGAGTTTGAGACCAGTCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAAAAACAAAAAACAAACAAAAAAAAGGCTTAGCTAATGCTGAGACAGAGAGACACTGTTCCTCCCAGTCTGCAAGGCTTCAGATGCAGAAAATAACATATACTTAATCCAGTCAGAAAGCCTTCCTGGTAGTGGCAAGACTGAAGCAGGATATCGGGGGATTTACACAACCCCAGCCCACCAGCCTCAAACCGGAAGCCCAAAGCCCAGGGAAGCTCCTGAGTGCCACCTCCAGCCTCCCTGTGAGGGGCTGACGCCGATACCAACCTTTACCCCCTCACTCCCTTGGACGTCCCTCAGGGCCAAGCCACAGACATTGCCATCCAGGCAGAGGAGATCATGAAGCTCAAGAAGCAGCTCTATAACATCTACGCCAAGCACACCAAACAGAGCCTGCAGGTGATCGGTAAGCACCCTCCTTTATTTCATCCTGGTCCGTGCACAGACGGACCAGGCGTTGCTCTAAGCCAGGGCTTCTCCACCTGGCCCCTGCGGACTTTCAGGGCTGGATCGTTCTCTGGGATGGGGGGACCATCCCAGAGGTCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACTAAAAATGGTGTACTTGTAATCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCTGTGGAATATGAGAGTTTGAGGTTACAGTGAGCTAATTTTTTTGTTTGTTTGTTTTTTTGAGACAAGGTCTGGCTCTGTCGCTCAGGCTGGAATGCAGTGGCATGATCTCGGCTCATTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCTCAGTAGCTGGGACTACAGGGATGCACCACCATGCCTGGCTAATTTTTTGTAGAGACGTGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCGTGAGCTCAAGTGATCCAGCTGCCTCAGCCTCCCAAAGTTCTGGGATTACAAGTGTGAGCCACCACGCCCAGCCATAATTTTATTAAAATCAAAAAGTGAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGAGGATCACTTGAGTTCAGGAGTTCAAGACCAGCCTGGGCAATATAGTGAAACCCCATTTCATAGAAAAGAAAAAAAAATTTTAGCTGGGCACCATGGCTCACGCCTGTAGTACCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAACTAGCCAGGTGTGTTGGCACACGCCTGTAATCCCAGCTACTGAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGAGAGGCGGAGGTTGTAGTGAGTCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAGTGAATGTTCCACAGCATCACAGATGAATTTTGCAAATATGTTGCATGAAAGAAGAATAAACACTCTGTGATTCCATTTATTTAAACTATAAAAACAAGGAGAGCTAATTTATGCTGTTAGAGGAGTGGTTGCTTTGGGGTATGGGGAGGGGGTGGCAAGGATTAGTGACTGTCGTGGGCCCAAGTGGGGTTTCAGGGGTGCTGGCATTATTCCATCTCTTGGTCTGGGTGCTGGTCCTGTAGGGTATGTTCAGTCTGAAAATCCATCCCACCAGACATTTACGAATCATGCCCTTTCCTGGGTGTATATTATACATCAATAACAATTTTTTTTTTTTTTTGAGATGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCCACCTCCCAGATTTAAGTGATTCTCATACCTCAGCCTCCCTAGTAGCTGGGATTACAGGCGTGTGCCACCACACCTGGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCATGGTGAAACTTTGAAGGCCAATGGTGAAACATGAGGCCAAACTCCTGGCCTCAAGTGGTCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACCGTGCCTGGCCCAATAACAATTTTTTAAAAAACAAAATTGAAATTGGTATTTTACTGATACCTAGGGGAAACTGAGGCACTGCAGAATGAGGACATGTCTCAGTCAGCTTGAGCTGCTTAACAAAACACCACAGACCTCAACAGAGATTTATGTCTCACAGTTCTGGGGGCTGGGAAGTCCAAGGTCAGGGTGCCAGCTGATTCGGTTCTTGGTGAGTGCTCTCTTCCTGGCTTGCAGACGGCCGCCTTCTCGCTGTGTCTTCACATGGTGGAGAGAGAGCAAGTGCACTGGTGTCTCCTCTTATAAGGCCACTAATCCCATCAAGGGGCCCCTGACCCCATCTCTCCTAATGA
CCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACAGCGCCCAGTCATATTAATTTTTAAAAAAGGAGGGGGGCTGCATCTGTTCCACCCTCCCCAGGTTTAGGAGATGGAATAGGGAAAGGGTCGGGGGGAGCTGGTCCAGCCCCTCACTTGCTCCCCCGCCCACAGGTGGTGTGGTGACCGCGGGCCTGGCCATCTACGACACGATGCAGTACATCCTCAACCCGATCTGCACCTGGTGCGTGGGCCAGGCCGCCAGCATGGGCTCCCTGCTTCTCGCCGCCGGCACCCCAGGCATGCGCCACTCGCTCCCCAACTCCCGTATCATGATCCACCAGCCCTCAGGAGGCGCCCGGGTGAGTGCCAGACACGCGAGCTGCTGTTGGGAATCAGGACAGGGTCTAGACAGAAGGACTGACTGGGCGGAAGTCAAGCGTGGGAGGGGATGTTTTTTTTTTTTTTTGAGATGGAGTCTCACTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTTCTGCCTGAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACATTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCGCTGGGCCAGCCGGGAGTGGATGTCTTAAAATGTGCAGGCCAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCTAGCACTTCGGGAGACAGAGGCGGGAGGATCACGTGAGCTCAGGAGTTCGAGGCCAGCCAGGGGAACATAATGAGACCTTGTCTCTATTAAAGAAAAAAAAAAAAAAGGCCAGGCATGGTGGCTCACGCCTGTAAATCTTGACACTTTGGGAAGCTGGAGCAGGTGGATCATTTGAGGTCAGGAATTCTAAACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGCGTGCCCATAATCCCAGCTGTTTTGGGAGGCTGAGATAGGAGAATCACTTGAACCCAGGAGGTGGAAGTGAGCTGAGATTGCGCCACTGCACTCAAGCCTGGATGACAGAGCAAGACTCTGTCTCAAAACAACAAAGGGAAAAAAAGAAAATGCACTGAGGAGTTGTTTGCTGTCTCTTGAGAATTAGCTTCAGCTGGGCACAGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCCAAGAGTTTAAGACCAGCCTGGGCAATGGTGAGACCCCATCTCTACCAAATATTTAAAATGACTCGGGCATGGTTATGCTTGCCTCTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGTGAGGTGAAGGCTGCAATGAGCTGTCTTGTACCACTGCATTCCAGCCCCAGCAACAGAGGAAGACCCTGTCTCAAAAAAAAAAAAAGGCGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACAGGAGGATCACTTGAGGCCGGGAGTTTGAGACCAGTCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAAAAACAAAAAACAAACAAAAAAAAGGCTTAGCTAATGCTGAGACAGAGAGACACTGTTCCTCCCAGTCTGCAAGGCTTCAGATGCAGAAAATAACATATACTTAATCCAGTCAGAAAGCCTTCCTGGTAGTGGCAAGACTGAAGCAGGATATCGGGGGATTTACACAACCCCAGCCCACCAGCCTCAAACCGGAAGCCCAAAGCCCAGGGAAGCTCCTGAGTGCCACCTCCAGCCTCCCTGTGAGGGGCTGACGCCGATACCAACCTTTACCCCCTCACTCCCTTGGACGTCCCTCAGGGCCAAGCCACAGACATTGCCATCCAGGCAGAGGAGATCATGAAGCTCAAGAAGCAGCTCTATAACATGTACGCCAAGCACACCAAACAGAGCCTGCAGGTGATCGGTAAGCACCCTCCTTTATTTCATCCTGGTCCGTGCACAGACGGACCAGGCGTTGCTCTAAGCCAGGGCTTCTCCACCTGGCCCCTGCGGACTTTCAGGGCTGGATCGTTCTCTGGGATGGGGGGACCATCCCAGAGGTCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACTAAAAATGGTGTACTTGTAATCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCTGTGGAATATGAGAGTTTGAGGTTACAGTGAGCTAATTTTTTTGTTTGTTTGTTTTTTTGAGACAAGGTCTGGCTCTGTCGCTCAGGCTGGAATGCAGTGGCATGATCTCGGCTCATTGCAACCTCTGCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCTCAGTAGCTGGGACTACAGGGATGCACCACCATGCCTGGCTAATTTTTTGTAGAGACGTGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCGTGAGCTCAAGTGATCCAGCTGCCTCAGCCTCCCAAAGTTCTGGGATTACAAGTGTGAGCCACCACGCCCAGCCATAATTTTATTAAAATCAAAAAGTGAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGAGGATCACTTGAGTTCAGGAGTTCAAGACCAGCCTGGGCAATATAGTGAAACCCCATTTCATAGAAAAGAAAAAAAAATTTTAGCTGGGCACCATGGCTCACGCCTGTAGTACCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAACTAGCCAGGTGTGTTGGCACACGCCTGTAATCCCAGCTACTGAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGAGAGGCGGAGGTTGTAGTGAGTCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAGTGAATGTTCCACAGCATCACAGATGAATTTTGCAAATATGTTGCATGAAAGAAGAATAAACACTCTGTGATTCCATTTATTTAAACTATAAAAACAAGGAGAGCTAATTTATGCTGTTAGAGGAGTGGTTGCTTTGGGGTATGGGGAGGGGGTGGCAAGGATTAGTGACTGTCGTGGGCCCAAGTGGGGTTTCAGGGGTGCTGGCATTATTCCATCTCTTGGTCTGGGTGCTGGTCCTGTAGGGTATGTTCAGTCTGAAAATCCATCCCACCAGACATTTACGAATCATGCCCTTTCCTGGGTGTATATTATACATCAATAACAATTTTTTTTTTTTTTTGAGATGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGTGCAGTCTCCACCTCCCAGATTTAAGTGATTCTCATACCTCAGCCTCCCTAGTAGCTGGGATTACAGGCGTGTGCCACCACACCTGGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCATGGTGAAACTTTGAAGGCCAATGGTGAAACATGAGGCCAAACTCCTGGCCTCAAGTGGTCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACCGTGCCTGGCCCAATAACAATTTTTTAAAAAACAAAATTGAAATTGGTATTTTACTGATACCTAGGGGAAACTGAGGCACTGCAGAATGAGGACATGTCTCAGTCAGCTTGAGCTGCTTAACAAAACACCACAGACCTCAACAGAGATTTATGTCTCACAGTTCTGGGGGCTGGGAAGTCCAAGGTCAGGGTGCCAGCTGATTCGGTTCTTGGTGAGTGCTCTCTTCCTGGCTTGCAGACGGCCGCCTTCTCGCTGTGTCTTCACATGGTGGAGAGAGAGCAAGTGCACTGGTGTCTCCTCTTATAAGGCCACTAATCCCATCAAGGGGCCCCTGACCCCATCTCTCCTAATGA
Task1_train_26334
A mutation on Chromosome 19 affecting TUBB4A (tubulin beta 4A class IVa) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Hypomyelinating leukodystrophy 6
TCTAGCATATCATCAAGAAAAAACCATAAAAATGGGCAACCAGTGGCTCTCATCTGTGGAGTAGCCATTCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGATACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTGACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGAACTATAGGCGCCTGCCACCACGCCCAGGTAATTTTTGCATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGTCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCCACCTCAGACTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGCACCTGGCTCCTTTATTTATTTATTTAATTATTATTATTTTTTGAGACGGAGTGTCACTCTGTTGCCAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTG
TCTAGCATATCATCAAGAAAAAACCATAAAAATGGGCAACCAGTGGCTCTCATCTGTGGAGTAGCCATTCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGATACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTGACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGAACTATAGGCGCCTGCCACCACGCCCAGGTAATTTTTGCATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGTCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCCACCTCAGACTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGCACCTGGCTCCTTTATTTATTTATTTAATTATTATTATTTTTTGAGACGGAGTGTCACTCTGTTGCCAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGTGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTG
Task1_train_26335
Mutation context: Chromosome 19, Gene TUBB4A (tubulin beta 4A class IVa). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Hypomyelinating leukodystrophy 6
ATCATCAAGAAAAAACCATAAAAATGGGCAACCAGTGGCTCTCATCTGTGGAGTAGCCATTCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGATACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTGACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGAACTATAGGCGCCTGCCACCACGCCCAGGTAATTTTTGCATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGTCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCCACCTCAGACTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGCACCTGGCTCCTTTATTTATTTATTTAATTATTATTATTTTTTGAGACGGAGTGTCACTCTGTTGCCAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCC
ATCATCAAGAAAAAACCATAAAAATGGGCAACCAGTGGCTCTCATCTGTGGAGTAGCCATTCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGATACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTGACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCCGGAACTATAGGCGCCTGCCACCACGCCCAGGTAATTTTTGCATTTTTAGTAGAGTTGGGGTTTCACCATGTTGGTCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCCACCTCAGACTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGCACCTGGCTCCTTTATTTATTTATTTAATTATTATTATTTTTTGAGACGGAGTGTCACTCTGTTGCCAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAATATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCC
Task1_train_26336
The gene TUBB4A (tubulin beta 4A class IVa), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
AGCCACTGCACCTGGCTCCTTTATTTATTTATTTAATTATTATTATTTTTTGAGACGGAGTGTCACTCTGTTGCCAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCCTTTTGAGTAGCTGGGACTACAGGCTTATGCTACCAGATCTGGCTAATTTTTGTATCTTTTTTTTGTAGAGGTGGGGTTTCGACATGTTGCCCAGGCTGTTCTTGAACTCCTGAGCTGGAGCAATCCACCTGCCATGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTTGGCCTGTGTTTTCTTGTTAATCATGTTTATTGTCTGCAAGCTCACTGTGGAATGCAAGCTCCCGGAGGAAAAGAATCAGTATTAGAATATTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCAGCACTTAGGGAGGCCGAGGCGGGCAGATTGCGAGGTTAGGAGATCGAGACC
AGCCACTGCACCTGGCTCCTTTATTTATTTATTTAATTATTATTATTTTTTGAGACGGAGTGTCACTCTGTTGCCAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGTGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCCTTTTGAGTAGCTGGGACTACAGGCTTATGCTACCAGATCTGGCTAATTTTTGTATCTTTTTTTTGTAGAGGTGGGGTTTCGACATGTTGCCCAGGCTGTTCTTGAACTCCTGAGCTGGAGCAATCCACCTGCCATGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTTGGCCTGTGTTTTCTTGTTAATCATGTTTATTGTCTGCAAGCTCACTGTGGAATGCAAGCTCCCGGAGGAAAAGAATCAGTATTAGAATATTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCAGCACTTAGGGAGGCCGAGGCGGGCAGATTGCGAGGTTAGGAGATCGAGACC
Task1_train_26337
A mutation in TUBB4A (tubulin beta 4A class IVa), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Hypomyelinating leukodystrophy 6
ATTTATTTAATTATTATTATTTTTTGAGACGGAGTGTCACTCTGTTGCCAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCCTTTTGAGTAGCTGGGACTACAGGCTTATGCTACCAGATCTGGCTAATTTTTGTATCTTTTTTTTGTAGAGGTGGGGTTTCGACATGTTGCCCAGGCTGTTCTTGAACTCCTGAGCTGGAGCAATCCACCTGCCATGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTTGGCCTGTGTTTTCTTGTTAATCATGTTTATTGTCTGCAAGCTCACTGTGGAATGCAAGCTCCCGGAGGAAAAGAATCAGTATTAGAATATTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCAGCACTTAGGGAGGCCGAGGCGGGCAGATTGCGAGGTTAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTG
ATTTATTTAATTATTATTATTTTTTGAGACGGAGTGTCACTCTGTTGCCAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGTGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCCTTTTGAGTAGCTGGGACTACAGGCTTATGCTACCAGATCTGGCTAATTTTTGTATCTTTTTTTTGTAGAGGTGGGGTTTCGACATGTTGCCCAGGCTGTTCTTGAACTCCTGAGCTGGAGCAATCCACCTGCCATGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTTGGCCTGTGTTTTCTTGTTAATCATGTTTATTGTCTGCAAGCTCACTGTGGAATGCAAGCTCCCGGAGGAAAAGAATCAGTATTAGAATATTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCAGCACTTAGGGAGGCCGAGGCGGGCAGATTGCGAGGTTAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTG
Task1_train_26338
A variant on Chromosome 19 in gene TUBB4A (tubulin beta 4A class IVa) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Inborn genetic diseases
ATTTATTTAATTATTATTATTTTTTGAGACGGAGTGTCACTCTGTTGCCAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCCTTTTGAGTAGCTGGGACTACAGGCTTATGCTACCAGATCTGGCTAATTTTTGTATCTTTTTTTTGTAGAGGTGGGGTTTCGACATGTTGCCCAGGCTGTTCTTGAACTCCTGAGCTGGAGCAATCCACCTGCCATGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTTGGCCTGTGTTTTCTTGTTAATCATGTTTATTGTCTGCAAGCTCACTGTGGAATGCAAGCTCCCGGAGGAAAAGAATCAGTATTAGAATATTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCAGCACTTAGGGAGGCCGAGGCGGGCAGATTGCGAGGTTAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTG
ATTTATTTAATTATTATTATTTTTTGAGACGGAGTGTCACTCTGTTGCCAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGTGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCCTTTTGAGTAGCTGGGACTACAGGCTTATGCTACCAGATCTGGCTAATTTTTGTATCTTTTTTTTGTAGAGGTGGGGTTTCGACATGTTGCCCAGGCTGTTCTTGAACTCCTGAGCTGGAGCAATCCACCTGCCATGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTTGGCCTGTGTTTTCTTGTTAATCATGTTTATTGTCTGCAAGCTCACTGTGGAATGCAAGCTCCCGGAGGAAAAGAATCAGTATTAGAATATTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCAGCACTTAGGGAGGCCGAGGCGGGCAGATTGCGAGGTTAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTG
Task1_train_26339
A variant was discovered on Chromosome 19, affecting TUBB4A (tubulin beta 4A class IVa). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Hypomyelinating leukodystrophy 6
CAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCCTTTTGAGTAGCTGGGACTACAGGCTTATGCTACCAGATCTGGCTAATTTTTGTATCTTTTTTTTGTAGAGGTGGGGTTTCGACATGTTGCCCAGGCTGTTCTTGAACTCCTGAGCTGGAGCAATCCACCTGCCATGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTTGGCCTGTGTTTTCTTGTTAATCATGTTTATTGTCTGCAAGCTCACTGTGGAATGCAAGCTCCCGGAGGAAAAGAATCAGTATTAGAATATTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCAGCACTTAGGGAGGCCGAGGCGGGCAGATTGCGAGGTTAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCT
CAGGCTGGTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCGGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCCTTTTGAGTAGCTGGGACTACAGGCTTATGCTACCAGATCTGGCTAATTTTTGTATCTTTTTTTTGTAGAGGTGGGGTTTCGACATGTTGCCCAGGCTGTTCTTGAACTCCTGAGCTGGAGCAATCCACCTGCCATGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTTGGCCTGTGTTTTCTTGTTAATCATGTTTATTGTCTGCAAGCTCACTGTGGAATGCAAGCTCCCGGAGGAAAAGAATCAGTATTAGAATATTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCAGCACTTAGGGAGGCCGAGGCGGGCAGATTGCGAGGTTAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCT
Task1_train_26340
Here is a mutation in TUBB4A (tubulin beta 4A class IVa) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Hypomyelinating leukodystrophy 6
GTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCCTTTTGAGTAGCTGGGACTACAGGCTTATGCTACCAGATCTGGCTAATTTTTGTATCTTTTTTTTGTAGAGGTGGGGTTTCGACATGTTGCCCAGGCTGTTCTTGAACTCCTGAGCTGGAGCAATCCACCTGCCATGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTTGGCCTGTGTTTTCTTGTTAATCATGTTTATTGTCTGCAAGCTCACTGTGGAATGCAAGCTCCCGGAGGAAAAGAATCAGTATTAGAATATTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCAGCACTTAGGGAGGCCGAGGCGGGCAGATTGCGAGGTTAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCC
GTGTGCAGTGGCGTTATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTACCTGGGACTACAGGCGCCCACCACCACGCCCTGCGAATTTTTTTATTTTTAGTAGAGATGGGATTTCGCCATGTTGACCAGGCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCGCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCCTTTTGAGTAGCTGGGACTACAGGCTTATGCTACCAGATCTGGCTAATTTTTGTATCTTTTTTTTGTAGAGGTGGGGTTTCGACATGTTGCCCAGGCTGTTCTTGAACTCCTGAGCTGGAGCAATCCACCTGCCATGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTTGGCCTGTGTTTTCTTGTTAATCATGTTTATTGTCTGCAAGCTCACTGTGGAATGCAAGCTCCCGGAGGAAAAGAATCAGTATTAGAATATTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCAGCACTTAGGGAGGCCGAGGCGGGCAGATTGCGAGGTTAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCC
Task1_train_26341
Consider this mutation in TUBB4A (tubulin beta 4A class IVa) on Chromosome 19. Is this a benign change or a disease-causing variant?
Pathogenic; Hypomyelinating leukodystrophy 6
GCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCCTTTTGAGTAGCTGGGACTACAGGCTTATGCTACCAGATCTGGCTAATTTTTGTATCTTTTTTTTGTAGAGGTGGGGTTTCGACATGTTGCCCAGGCTGTTCTTGAACTCCTGAGCTGGAGCAATCCACCTGCCATGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTTGGCCTGTGTTTTCTTGTTAATCATGTTTATTGTCTGCAAGCTCACTGTGGAATGCAAGCTCCCGGAGGAAAAGAATCAGTATTAGAATATTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCAGCACTTAGGGAGGCCGAGGCGGGCAGATTGCGAGGTTAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAGAATATTGGCCAGGCGTGGTGGCTCACGCTTGTAAACCCAGCACTTTGGGAGGCCG
GCTGGTCTCTCCTGGCCTCAGGTGATCCACCTGCCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTACACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCCTTTTGAGTAGCTGGGACTACAGGCTTATGCTACCAGATCTGGCTAATTTTTGTATCTTTTTTTTGTAGAGGTGGGGTTTCGACATGTTGCCCAGGCTGTTCTTGAACTCCTGAGCTGGAGCAATCCACCTGCCATGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTTGGCCTGTGTTTTCTTGTTAATCATGTTTATTGTCTGCAAGCTCACTGTGGAATGCAAGCTCCCGGAGGAAAAGAATCAGTATTAGAATATTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCAGCACTTAGGGAGGCCGAGGCGGGCAGATTGCGAGGTTAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAGAATATTGGCCAGGCGTGGTGGCTCACGCTTGTAAACCCAGCACTTTGGGAGGCCG
Task1_train_26342
A genomic change on Chromosome 19 affects TUBB4A (tubulin beta 4A class IVa). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; not provided
CCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCCTTTTGAGTAGCTGGGACTACAGGCTTATGCTACCAGATCTGGCTAATTTTTGTATCTTTTTTTTGTAGAGGTGGGGTTTCGACATGTTGCCCAGGCTGTTCTTGAACTCCTGAGCTGGAGCAATCCACCTGCCATGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTTGGCCTGTGTTTTCTTGTTAATCATGTTTATTGTCTGCAAGCTCACTGTGGAATGCAAGCTCCCGGAGGAAAAGAATCAGTATTAGAATATTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCAGCACTTAGGGAGGCCGAGGCGGGCAGATTGCGAGGTTAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAGAATATTGGCCAGGCGTGGTGGCTCACGCTTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATAGCGAGGTCAGGAGATCAAGA
CCTCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCAGCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCCTTTTGAGTAGCTGGGACTACAGGCTTATGCTACCAGATCTGGCTAATTTTTGTATCTTTTTTTTGTAGAGGTGGGGTTTCGACATGTTGCCCAGGCTGTTCTTGAACTCCTGAGCTGGAGCAATCCACCTGCCATGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTTGGCCTGTGTTTTCTTGTTAATCATGTTTATTGTCTGCAAGCTCACTGTGGAATGCAAGCTCCCGGAGGAAAAGAATCAGTATTAGAATATTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCAGCACTTAGGGAGGCCGAGGCGGGCAGATTGCGAGGTTAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAGAATATTGGCCAGGCGTGGTGGCTCACGCTTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATAGCGAGGTCAGGAGATCAAGA
Task1_train_26343
A variant affecting Chromosome 19, within the gene TUBB4A (tubulin beta 4A class IVa), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Torsion dystonia 4
TCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCCTTTTGAGTAGCTGGGACTACAGGCTTATGCTACCAGATCTGGCTAATTTTTGTATCTTTTTTTTGTAGAGGTGGGGTTTCGACATGTTGCCCAGGCTGTTCTTGAACTCCTGAGCTGGAGCAATCCACCTGCCATGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTTGGCCTGTGTTTTCTTGTTAATCATGTTTATTGTCTGCAAGCTCACTGTGGAATGCAAGCTCCCGGAGGAAAAGAATCAGTATTAGAATATTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCAGCACTTAGGGAGGCCGAGGCGGGCAGATTGCGAGGTTAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAGAATATTGGCCAGGCGTGGTGGCTCACGCTTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATAGCGAGGTCAGGAGATCAAGACT
TCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCATGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCCTTTTGAGTAGCTGGGACTACAGGCTTATGCTACCAGATCTGGCTAATTTTTGTATCTTTTTTTTGTAGAGGTGGGGTTTCGACATGTTGCCCAGGCTGTTCTTGAACTCCTGAGCTGGAGCAATCCACCTGCCATGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTTGGCCTGTGTTTTCTTGTTAATCATGTTTATTGTCTGCAAGCTCACTGTGGAATGCAAGCTCCCGGAGGAAAAGAATCAGTATTAGAATATTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCAGCACTTAGGGAGGCCGAGGCGGGCAGATTGCGAGGTTAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAGAATATTGGCCAGGCGTGGTGGCTCACGCTTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATAGCGAGGTCAGGAGATCAAGACT
Task1_train_26344
Here is a variant affecting TUBB4A (tubulin beta 4A class IVa) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Hypomyelinating leukodystrophy 6
TCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCGTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCCTTTTGAGTAGCTGGGACTACAGGCTTATGCTACCAGATCTGGCTAATTTTTGTATCTTTTTTTTGTAGAGGTGGGGTTTCGACATGTTGCCCAGGCTGTTCTTGAACTCCTGAGCTGGAGCAATCCACCTGCCATGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTTGGCCTGTGTTTTCTTGTTAATCATGTTTATTGTCTGCAAGCTCACTGTGGAATGCAAGCTCCCGGAGGAAAAGAATCAGTATTAGAATATTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCAGCACTTAGGGAGGCCGAGGCGGGCAGATTGCGAGGTTAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAGAATATTGGCCAGGCGTGGTGGCTCACGCTTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATAGCGAGGTCAGGAGATCAAGACT
TCAGCCTCCCAATGTTGGGATTACAGGTGTGAGCCACCGTGCCCTACCCCTTTACTTTCTTAATAAACGTGCTTTTACTTTATGGACTTGCCCTGAATTCTTTCTTGAGATCCAAGAACCCTCTCTTGGGGTCTGGATTGGGACCCCATTCCTATAACAGTTGTGGGGGGATCCTGGGGGAAAACATACGATCCCATTTTACAGGTGGGAAGACCGAGGCTGAGAGAAGGCAAATGGCTTAGTCAAAACCTCAGGGTTAGTGGGTGGCCTAGCCTGGCCCGTCTGATCCCTCCCCAGCACGCCCCCCATCCAGAGATGAGATGTCATCGGTACCCTCCTCCATCCTGTAGAGAAAAGCCCGCACTTGCTGTAAGAGAGGAAAGAGGGATTCGGCAGAAACATCCATGACAACAATTAATTTATTTATTGAGGGTGAGGCAGGGAAGCGGGGAGGGAGGGTAGGGGTGACCTCTCTTCCTCACAGGCACCAGGCCTTGTTTCTCTCCCAGATAAGCTAAGGTCGGCAGGGGCTGAGGGGAGTGAGGCAGGGAGGATGCATGGGGCCTGTGGGAATCAGAGAGAAGCTGGGGTCAGAGGTAGGAGCTGACGCTGTGGGGGGTGGGGGGTGAAAGGTGAGGCAAGGTCAAAGGTGAACTGCAGCTCGGAGGGAGGGGTCCAATATAAACCAGGACTTGCAGGTGTAGAAGTAAAATGGGACTCATAGAGGGTGAAAGAGAAGTTGGAGTCAGAGGGGATTCAGAGATCAAAGAGAAGTTGGGGTCAGAGGTAGGAGCTGGGGCTCAGGTGGGGGGTTAAAGGTGAGGCAAGGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACCAGAACTTATAGGTCTAGAGGTAAAATGGGATTCATGGGGGGCAGAGGTCAAAGGTGAAGCAGAAGTCAGGGGTGAAGGAAGGTCTGCAAAGTTAAAGGTGCGGTTTCCAGAGTCAGAAGGGGTGAAGCGGGGCTCCTCCTGGGAATGTCAAGGTTGGAAGAGCTCAAGGGGGTTAAAGATAAATTAGGGCTCAAAGGGGAGCCAGGGTCGGAGATGAAGTAGCCAGAGGTAAAGCGAGCTCCAAAGGTATTGTTAGGGTCAGCGGGGAGTCAGCCTTGGAGGGAAAGCGGGGCTCTAGGGTTCAGAGATGGGGGGCCTAGCGGATCAAAGGTCAGAAGCCTCGAGGGGACAGGTGGGAAGCGATGGGAGCAGCCTAGGCCACCTCCTCCTCCGCCTCCTCCTCGAACTCGCCCTCCTCGGCCGTGGCGTCCTGGTACTGCTGGTACTCAGATACCAGGTCATTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTCCATGCCCTCGCCCGTGTACCAGTGCAAGAAGGCCTTGCGCCGGAACATGGCCGTGAACTGCTCGGAGATGCGCTTGAACAGCTCCTGGATGGCCGTGCTGTTGCCGATGAAGGTCGCGGCCATCTTCAGGCCGCGGGGCGGGATGTCGCACACGGCCGTCTTCACGTTGTTGGGGATCCACTCCACGAAGTAGCTGCTGTTCTTGCTCTGCACGCTCAGCATCTGCTCGTCCACCTCCTTCATGGACATGCGGCCCCGGAACACGGCGGCCACGGTCAGGTAGCGGCCGTGGCGCGGGTCGCACGCCGCCATCATGTTCTTGGCATCGAACATCTGCTGGGTGAGCTCGGGCACCGTCAGGGCCCGGTACTGCTGGCTGCCCCGGCTGGTCAGGGGTGCGAAGCCGGGCATGAAGAAGTGCAGGCGAGGAAAGGGAACCATGTTGACGGCCAGCTTGCGCAGGTCGGCGTTCAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCATGGTGGCCGACACCAGGTGGTTGAGGTCCCCGTAGGTGGGGGTGGTCAGCTTGAGGGTGCGGAAACAGATGTCGTAGAGTGCCTCGTTGTCGATGCAGTAGGTCTCATCCGTATTCTCCACCAGCTGGTGCACAGACAGCGTGGCGTTGTAGGGCTCCACCACCCTGTCTGACACTTTGGGCGAGGGCACCACGCTGAAGGTGTTCATGATGCGGTCTGGGAACTCCTCGCGGATCTTACTGATGAGCAGCGTGCCCATTCCGGACCCCGTGCCACCCCCCAGCGAGTGGGTCAGCTGGAAGCCCTGAAGGCAGTCGCAGCTCTCGGCCTCCTTCCGGACTACGTCCAGGACAGCGTCCACCAGCTCTGCGCCCTCCGTGTAGTGCCCCTTTGCCCAGTTGTTGCCGGCTCCGGATTGGCCTAGAGAGGGAAGGGGAGGGGACACACATGCAGTTATGGGGAGCCCCAACCCTTGACTCTGTCTCTCCACCACCTGGAGGGCCTCTAGTAGTTGAATACTAGTAACTATCAAAAATAATAACAAATAGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAAATTAGCCGGGAGTGGTGGCGGGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAACTTGCAGTGAGCCGACATTGTGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAATAATAATAATAATAATAATAATAAATAATAACAATTATAGCCAGGTGTGCTGGTGAGCGATCGTAGTCCCTGGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGGAGGAGGCTGCAGGTAGCCAAGATTGAGCCACTGCATTCCAGCCTGGGTGACGGAGTGAGACTCCATCTCAAAAACACACATACACACAAAACACTCCCCCGCCCCCTGCCTAAAAAAAAACCAAGACTGGGCACAGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGGCAGAGGTGGGAGGATTGCTTGAGCCCAGCAGTTCAAGACTAGCCTGGGCAACCTAGTGAGGCCATGTCTCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATAAATTAGCCAGTCATGGTGGTGGCACACCTGTAGTACCAGTTACTAGGGGGGCTCAGGTGGGAGATTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATCACACCATTGCAGCCTGGGAGACAGAGCAAGACCCTGTCTCTAAAACAAATAAATAATAACAATAAAAAGATTAATATTTAACATCATTATTAATAATAATATCATTTTCAGGCAGGGTCTTGGTATGTTGCCCAGGCTGGAGTACAGAGGTGCAATCATGGCTCACTGCAGCCTTGACTTCCCAGGTTCAAGTGATCCTCCTGCCCCAGCCTTTTGAGTAGCTGGGACTACAGGCTTATGCTACCAGATCTGGCTAATTTTTGTATCTTTTTTTTGTAGAGGTGGGGTTTCGACATGTTGCCCAGGCTGTTCTTGAACTCCTGAGCTGGAGCAATCCACCTGCCATGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCTTGGCCTGTGTTTTCTTGTTAATCATGTTTATTGTCTGCAAGCTCACTGTGGAATGCAAGCTCCCGGAGGAAAAGAATCAGTATTAGAATATTGGCCAGGCGCAGTGGCTCATGCCTGTAATCCAGCACTTAGGGAGGCCGAGGCGGGCAGATTGCGAGGTTAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGCCTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAGAATATTGGCCAGGCGTGGTGGCTCACGCTTGTAAACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATAGCGAGGTCAGGAGATCAAGACT
Task1_train_26345
This sequence variant lies in LOC130063295, TUBB4A (ATAC-STARR-seq lymphoblastoid silent region 9955| tubulin beta 4A class IVa) on Chromosome 19. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Hypomyelinating leukodystrophy 6
ACACCATCGCTCAGGCTGGAGTGCAGTGGCACCATCATAGCTCATGGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCTACCTTAGCCTCACGAGTAGCTGTGACTACAGGTGCACACCACCTCACTCAGCTAATTAAAATTTTTTTCTTTTTGTAGAGACAGGGTCTCACCATGGTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCTCTCTTCCTGACTCAGCCTCCCAAAGTCCTGGGTTTATAGGCATGAACCACCATGCCCAGTGAAATCCCTGTTTTAAAGACGAGGAGGCCGGGCAAGGTGGCTCATGCTTGTAATCCAGCACTTTGGGAGCTGAGTTGGGTGGATCGTTTGAGTCCCGGAGTTTGAGACCAGCATGGGCAACATAGAGAGACCCACCTCTCTACAAAGAAAACTAAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGGTCCAGCTACTTGGGAGACTGAGGCAAGAGGATCACGTGTGCCCAGAGGTGGAGGTGACAGTGAGCCGTGATCATGCCACTGCACTCTAGCCTGGGTGACAGCAGGACAGACAGACCCTGTCTGAAAAAAAAAAAAAAAAGAGGATTTTTGAGGCCCAGAAAGGCTGAGGAGCCCATCCTAAGTTATCCATCTGAATCAACCCCTGGCAGAGCTTTACTTATTTATCTCCTTTGTGGCCTATCACCTTCTACCAGAATGGGAGCTGCACTGGGGCAGAGAGGGAGCTCCGGCTGTTTGATTCTTACCTGGATCTCCAGCTTCTAGAACAGGGCCTGGTATGCAGTGAGTGCTCACTGTTTGTTGAATGCATGAAGTGGCAGAATTGGGATGTGCACCCAGGCAGTCTGGTTCCGGTTCAGACCGTTGAATTAAAATGCCACCTCCTCCAGGAAGACTTCCCTGAATCCTTCTCTGTATCCGCCCTCCTCAGGGCTCTCACAGTGGCCTGAGCATCCCCTCATCACAGCCCTGGATGCAGGGCTGGTGCCTGGTGCCCTGTCCACCCCATCTCTGGTCTGTGGGCCCCGGTGGTGGCTGTTGACTCTGTGGTGTTAGCAGGAATAAGGAGGTTTTCCAGCCTCTGGCTCCCTGCTGGGGGACTCACCAAACACGAAGTTGTCCGGCCGAAAGATCTGACCGAAGGGGCCAGAACGGACAGAGTCCATGGTGCCGGGTTCCAGGTCCACCAGCACCGCTCTGGGGACATAATTTCCTCCTGCAGGGAAACAGATGGAGGGCAGTTCGATGCGTGCCAGGAACCACAGGCGCCCGGTAGCATCCTGTTCCCTCCCAGCTGCCCCTTCCCACCTGGAAGGTGCCTCCTTCGCCCTACCTGTGGCCTCGTTGTAGTACACGTTGATCCTCTCCAGTTGCAGGTCACTGTCCCCATGGTATGTGCCTGTGGGGTCGATGCCATGTTCGTCACTGATAACCTCCCAAAACTAGAGAGAGAGGTGGTCGGAAGAGTTGAGAGAGGGGAAGCCGGTGGCCAAGCCGAGGACTGCCCCCAGCCCCCAACTAGCTCCCTAGCTGCCACCTCTCCCCCAGCAAGGTGAACGGGGGACCTAGAGGCATGGTGTCGGGGCGAGGATGAGGCAGCAAGAAGGAGCGGTGGGGGCGGGGTGCAGCCGAGTCAGCACCCAGCGGGGCCGGCTGGTGCCAGCGCACCCAGGCTGCAGCCCGGGGGAGGCACCGGGGCTCTTTGTGCGTGAGGAGGGGACAGTGGCCCAGCTGTGGGCCCAGCTGTGACAGGCGGACAGAAGGCTGGCTCCCACTCTCCGCAGCCTCTTTGTTCCCAGTCTGGCCCTGCCACCCCCACCCCGCGACCCTTCCCCCAAGGCCCCTGGGGCGCGCTGGCCTCCTGGGGACCTCATTCCTTTCCAAAGACTCCCAGGTTGCGGGGTGCTCCGGGGACCGACCCCGCGGTGCTCCCCGGGGCCGCCACTGCCTCCCCGGGCCCCGTTCCCCGAGCACCTTGGCCCCGATCTGGTTGCCGCACTGGCCGGCCTGCAGGTGCACGATCTCCCGCATGGCGGTGGCGCTGAGGGTGGACGCGGCGGCGGTGGCACGAGCGCGGGGAGCTGCGGCGGCGGCGAGGGTGGAAGATGCGGCGGAGACGGCGGAGCACGGTCCCTGCGCCCCCGGGAGCCGCTATATGAGCGGGCGGGGCACGCGTCACGGCCGGTCACCCTCCCGCTCCGCCCCTTGGTCCCGCCCCGGGATGATGGAGGGGGCTGGGGTGGGGGGAGGTGGTGCAGGGACCTCCCTCCCCAGGGGGCCTCCCAGAGAAGTCCGGGACGCCACGTGCTCCGACCCCTGCCTTGGGGGTGAGGCCCCTTAGGGAGCCACCAGTGCAGTCTCCCCCGTCCCAGCCCCCAGCCAGGCTTGGCCACCCGCAGAAATTGGGCGGAGGAAGGGAGGGGAGCGCCTGGTAAACAGGCATCTGAGAAGTCCTGCCCCTCCCCCTTAGCCTCCACCCTCCCGCCCCAGGCCTTGCCTCAGTTTCTCGGTCCGCAGCCCCCCTTCTCATTCTATTTAGACCTCATTCGCCAGAATCCTTGCAGTAACCGCGAGCCCTCCCAGTGGGCTGGGGGCTCCGGAGCGGCGATCTGGTTTGCGGGTGGGGGGCGGTAGGTTCCTGGAGGGCTTGTCCTGAAGCTGCATAGTAAAACCACGATTTTCCTCCCATGATTGGGTGCAGATGCTGGTGGGCTCCCCTGGTACACCTCTACTGGGCATTGAGCTCGTCCCAGGTGGGGTCACCCCCAGCCTGGCCTAAGGAGGAGAGTGGAGGAGTAAGACAGCTGGGTTCATATTGGGAGGGGGACAGTGAGTCCCCAGGGCTGCCTCGCTTTCCCAAAATAACACCCCTCCTCTCCAGTATTGTAATTTATCTTTATCTATATCTATACCCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGGCGCCCAGGCTGGAGTGCAATGGCCCAATCTCGGCTCACTACAACCTCAGCCTCCCAGGTCCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAAAGTTTCTCCATGTTGTTCAGGCTGGTCTCAGACTCCTGACCTCAGGCCATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCGGCCTATATATATATATTTTCGGACAGGGTCTTGCTCTGTCCCTCAGGCTGTAGTGCAGTGGCATGCTCATAGCTCACTGCAGCCTCAATGTCCTGGGCTCAAGCAATCCTCTCACCTCAGCCTCCCAAGTAGCTGGGACTGCAGGTGCATGCCATCACGCCTGGCTAATTTTCAAGATTTTTTGTAGAGATGGGGTCTCGCTATGTTGTCCAGGCTGCTCTCCAACTCCTGAGCTCAAGAGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCACTGCGCCCAGCTCAGTATTATAATTTATTACCCACCATCTCCCTTGCCTCTGCATTTCCTGTAGCATTAGGTGTATGACCTTGCCCTGGTGCTCCTCTCTGTGTCTGAATTTCACATTTGCAAGTTGGGGTGGTGAGGAAGGCCCACCCTCCAGGGTCTGATTATGCGATGACCCAGTTAACAAGGTGGCGATAGTCTCCCCTCCTGCAGAGTCAACAATAAATTGTATCTTTCTCGAGTCTAAGTATTATCAGAGGCTGGACTGGACTTCCTGTGCTGCCCCTCATGTGAAGGTCAAGCCTCCTGGGGCTGCTTCCTTGGACAGCCTCCAGTCCCGCCCTCCCAGGAAGTCTCCTCCTCGCCTCCCATCCTTGACTTTCCCACTCAAGGACTTTGGTGTATTGCTGGTGGGAGGTGGGGTAAGCCATCTTGGCCATGTGGTTGGGACCTCACATTTGCCATGGCCACTAATTTTTTTTTTTTTTTTTTTTTTTTGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGT
ACACCATCGCTCAGGCTGGAGTGCAGTGGCACCATCATAGCTCATGGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCTACCTTAGCCTCACGAGTAGCTGTGACTACAGGTGCACACCACCTCACTCAGCTAATTAAAATTTTTTTCTTTTTGTAGAGACAGGGTCTCACCATGGTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCTCTCTTCCTGACTCAGCCTCCCAAAGTCCTGGGTTTATAGGCATGAACCACCATGCCCAGTGAAATCCCTGTTTTAAAGACGAGGAGGCCGGGCAAGGTGGCTCATGCTTGTAATCCAGCACTTTGGGAGCTGAGTTGGGTGGATCGTTTGAGTCCCGGAGTTTGAGACCAGCATGGGCAACATAGAGAGACCCACCTCTCTACAAAGAAAACTAAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGGTCCAGCTACTTGGGAGACTGAGGCAAGAGGATCACGTGTGCCCAGAGGTGGAGGTGACAGTGAGCCGTGATCATGCCACTGCACTCTAGCCTGGGTGACAGCAGGACAGACAGACCCTGTCTGAAAAAAAAAAAAAAAAGAGGATTTTTGAGGCCCAGAAAGGCTGAGGAGCCCATCCTAAGTTATCCATCTGAATCAACCCCTGGCAGAGCTTTACTTATTTATCTCCTTTGTGGCCTATCACCTTCTACCAGAATGGGAGCTGCACTGGGGCAGAGAGGGAGCTCCGGCTGTTTGATTCTTACCTGGATCTCCAGCTTCTAGAACAGGGCCTGGTATGCAGTGAGTGCTCACTGTTTGTTGAATGCATGAAGTGGCAGAATTGGGATGTGCACCCAGGCAGTCTGGTTCCGGTTCAGACCGTTGAATTAAAATGCCACCTCCTCCAGGAAGACTTCCCTGAATCCTTCTCTGTATCCGCCCTCCTCAGGGCTCTCACAGTGGCCTGAGCATCCCCTCATCACAGCCCTGGATGCAGGGCTGGTGCCTGGTGCCCTGTCCACCCCATCTCTGGTCTGTGGGCCCCGGTGGTGGCTGTTGACTCTGTGGTGTTAGCAGGAATAAGGAGGTTTTCCAGCCTCTGGCTCCCTGCTGGGGGACTCACCAAACACGAAGTTGTCCGGCCGAAAGATCTGACCGAAGGGGCCAGAACGGACAGAGTCCATGGTGCCGGGTTCCAGGTCCACCAGCACCGCTCTGGGGACATAATTTCCTCCTGCAGGGAAACAGATGGAGGGCAGTTCGATGCGTGCCAGGAACCACAGGCGCCCGGTAGCATCCTGTTCCCTCCCAGCTGCCCCTTCCCACCTGGAAGGTGCCTCCTTCGCCCTACCTGTGGCCTCGTTGTAGTACACGTTGATCCTCTCCAGTTGCAGGTCACTGTCCCCATGGTATGTGCCTGTGGGGTCGATGCCATGTTCGTCACTGATAACCTCCCAAAACTAGAGAGAGAGGTGGTCGGAAGAGTTGAGAGAGGGGAAGCCGGTGGCCAAGCCGAGGACTGCCCCCAGCCCCCAACTAGCTCCCTAGCTGCCACCTCTCCCCCAGCAAGGTGAACGGGGGACCTAGAGGCATGGTGTCGGGGCGAGGATGAGGCAGCAAGAAGGAGCGGTGGGGGCGGGGTGCAGCCGAGTCAGCACCCAGCGGGGCCGGCTGGTGCCAGCGCACCCAGGCTGCAGCCCGGGGGAGGCACCGGGGCTCTTTGTGCGTGAGGAGGGGACAGTGGCCCAGCTGTGGGCCCAGCTGTGACAGGCGGACAGAAGGCTGGCTCCCACTCTCCGCAGCCTCTTTGTTCCCAGTCTGGCCCTGCCACCCCCACCCCGCGACCCTTCCCCCAAGGCCCCTGGGGCGCGCTGGCCTCCTGGGGACCTCATTCCTTTCCAAAGACTCCCAGGTTGCGGGGTGCTCCGGGGACCGACCCCGCGGTGCTCCCCGGGGCCGCCACTGCCTCCCCGGGCCCCGTTCCCCGAGCACCTTGGCCCCGATCTGGTTGCCGCACTGGCCGGCCTGCAGGTGCACGATCTCCTGCATGGCGGTGGCGCTGAGGGTGGACGCGGCGGCGGTGGCACGAGCGCGGGGAGCTGCGGCGGCGGCGAGGGTGGAAGATGCGGCGGAGACGGCGGAGCACGGTCCCTGCGCCCCCGGGAGCCGCTATATGAGCGGGCGGGGCACGCGTCACGGCCGGTCACCCTCCCGCTCCGCCCCTTGGTCCCGCCCCGGGATGATGGAGGGGGCTGGGGTGGGGGGAGGTGGTGCAGGGACCTCCCTCCCCAGGGGGCCTCCCAGAGAAGTCCGGGACGCCACGTGCTCCGACCCCTGCCTTGGGGGTGAGGCCCCTTAGGGAGCCACCAGTGCAGTCTCCCCCGTCCCAGCCCCCAGCCAGGCTTGGCCACCCGCAGAAATTGGGCGGAGGAAGGGAGGGGAGCGCCTGGTAAACAGGCATCTGAGAAGTCCTGCCCCTCCCCCTTAGCCTCCACCCTCCCGCCCCAGGCCTTGCCTCAGTTTCTCGGTCCGCAGCCCCCCTTCTCATTCTATTTAGACCTCATTCGCCAGAATCCTTGCAGTAACCGCGAGCCCTCCCAGTGGGCTGGGGGCTCCGGAGCGGCGATCTGGTTTGCGGGTGGGGGGCGGTAGGTTCCTGGAGGGCTTGTCCTGAAGCTGCATAGTAAAACCACGATTTTCCTCCCATGATTGGGTGCAGATGCTGGTGGGCTCCCCTGGTACACCTCTACTGGGCATTGAGCTCGTCCCAGGTGGGGTCACCCCCAGCCTGGCCTAAGGAGGAGAGTGGAGGAGTAAGACAGCTGGGTTCATATTGGGAGGGGGACAGTGAGTCCCCAGGGCTGCCTCGCTTTCCCAAAATAACACCCCTCCTCTCCAGTATTGTAATTTATCTTTATCTATATCTATACCCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGGCGCCCAGGCTGGAGTGCAATGGCCCAATCTCGGCTCACTACAACCTCAGCCTCCCAGGTCCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAAAGTTTCTCCATGTTGTTCAGGCTGGTCTCAGACTCCTGACCTCAGGCCATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCGGCCTATATATATATATTTTCGGACAGGGTCTTGCTCTGTCCCTCAGGCTGTAGTGCAGTGGCATGCTCATAGCTCACTGCAGCCTCAATGTCCTGGGCTCAAGCAATCCTCTCACCTCAGCCTCCCAAGTAGCTGGGACTGCAGGTGCATGCCATCACGCCTGGCTAATTTTCAAGATTTTTTGTAGAGATGGGGTCTCGCTATGTTGTCCAGGCTGCTCTCCAACTCCTGAGCTCAAGAGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCACTGCGCCCAGCTCAGTATTATAATTTATTACCCACCATCTCCCTTGCCTCTGCATTTCCTGTAGCATTAGGTGTATGACCTTGCCCTGGTGCTCCTCTCTGTGTCTGAATTTCACATTTGCAAGTTGGGGTGGTGAGGAAGGCCCACCCTCCAGGGTCTGATTATGCGATGACCCAGTTAACAAGGTGGCGATAGTCTCCCCTCCTGCAGAGTCAACAATAAATTGTATCTTTCTCGAGTCTAAGTATTATCAGAGGCTGGACTGGACTTCCTGTGCTGCCCCTCATGTGAAGGTCAAGCCTCCTGGGGCTGCTTCCTTGGACAGCCTCCAGTCCCGCCCTCCCAGGAAGTCTCCTCCTCGCCTCCCATCCTTGACTTTCCCACTCAAGGACTTTGGTGTATTGCTGGTGGGAGGTGGGGTAAGCCATCTTGGCCATGTGGTTGGGACCTCACATTTGCCATGGCCACTAATTTTTTTTTTTTTTTTTTTTTTTTGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGT
Task1_train_26346
Given a variant located on Chromosome 19 and affecting LOC130063295, TUBB4A (ATAC-STARR-seq lymphoblastoid silent region 9955| tubulin beta 4A class IVa), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; not provided
CACCATCGCTCAGGCTGGAGTGCAGTGGCACCATCATAGCTCATGGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCTACCTTAGCCTCACGAGTAGCTGTGACTACAGGTGCACACCACCTCACTCAGCTAATTAAAATTTTTTTCTTTTTGTAGAGACAGGGTCTCACCATGGTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCTCTCTTCCTGACTCAGCCTCCCAAAGTCCTGGGTTTATAGGCATGAACCACCATGCCCAGTGAAATCCCTGTTTTAAAGACGAGGAGGCCGGGCAAGGTGGCTCATGCTTGTAATCCAGCACTTTGGGAGCTGAGTTGGGTGGATCGTTTGAGTCCCGGAGTTTGAGACCAGCATGGGCAACATAGAGAGACCCACCTCTCTACAAAGAAAACTAAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGGTCCAGCTACTTGGGAGACTGAGGCAAGAGGATCACGTGTGCCCAGAGGTGGAGGTGACAGTGAGCCGTGATCATGCCACTGCACTCTAGCCTGGGTGACAGCAGGACAGACAGACCCTGTCTGAAAAAAAAAAAAAAAAGAGGATTTTTGAGGCCCAGAAAGGCTGAGGAGCCCATCCTAAGTTATCCATCTGAATCAACCCCTGGCAGAGCTTTACTTATTTATCTCCTTTGTGGCCTATCACCTTCTACCAGAATGGGAGCTGCACTGGGGCAGAGAGGGAGCTCCGGCTGTTTGATTCTTACCTGGATCTCCAGCTTCTAGAACAGGGCCTGGTATGCAGTGAGTGCTCACTGTTTGTTGAATGCATGAAGTGGCAGAATTGGGATGTGCACCCAGGCAGTCTGGTTCCGGTTCAGACCGTTGAATTAAAATGCCACCTCCTCCAGGAAGACTTCCCTGAATCCTTCTCTGTATCCGCCCTCCTCAGGGCTCTCACAGTGGCCTGAGCATCCCCTCATCACAGCCCTGGATGCAGGGCTGGTGCCTGGTGCCCTGTCCACCCCATCTCTGGTCTGTGGGCCCCGGTGGTGGCTGTTGACTCTGTGGTGTTAGCAGGAATAAGGAGGTTTTCCAGCCTCTGGCTCCCTGCTGGGGGACTCACCAAACACGAAGTTGTCCGGCCGAAAGATCTGACCGAAGGGGCCAGAACGGACAGAGTCCATGGTGCCGGGTTCCAGGTCCACCAGCACCGCTCTGGGGACATAATTTCCTCCTGCAGGGAAACAGATGGAGGGCAGTTCGATGCGTGCCAGGAACCACAGGCGCCCGGTAGCATCCTGTTCCCTCCCAGCTGCCCCTTCCCACCTGGAAGGTGCCTCCTTCGCCCTACCTGTGGCCTCGTTGTAGTACACGTTGATCCTCTCCAGTTGCAGGTCACTGTCCCCATGGTATGTGCCTGTGGGGTCGATGCCATGTTCGTCACTGATAACCTCCCAAAACTAGAGAGAGAGGTGGTCGGAAGAGTTGAGAGAGGGGAAGCCGGTGGCCAAGCCGAGGACTGCCCCCAGCCCCCAACTAGCTCCCTAGCTGCCACCTCTCCCCCAGCAAGGTGAACGGGGGACCTAGAGGCATGGTGTCGGGGCGAGGATGAGGCAGCAAGAAGGAGCGGTGGGGGCGGGGTGCAGCCGAGTCAGCACCCAGCGGGGCCGGCTGGTGCCAGCGCACCCAGGCTGCAGCCCGGGGGAGGCACCGGGGCTCTTTGTGCGTGAGGAGGGGACAGTGGCCCAGCTGTGGGCCCAGCTGTGACAGGCGGACAGAAGGCTGGCTCCCACTCTCCGCAGCCTCTTTGTTCCCAGTCTGGCCCTGCCACCCCCACCCCGCGACCCTTCCCCCAAGGCCCCTGGGGCGCGCTGGCCTCCTGGGGACCTCATTCCTTTCCAAAGACTCCCAGGTTGCGGGGTGCTCCGGGGACCGACCCCGCGGTGCTCCCCGGGGCCGCCACTGCCTCCCCGGGCCCCGTTCCCCGAGCACCTTGGCCCCGATCTGGTTGCCGCACTGGCCGGCCTGCAGGTGCACGATCTCCCGCATGGCGGTGGCGCTGAGGGTGGACGCGGCGGCGGTGGCACGAGCGCGGGGAGCTGCGGCGGCGGCGAGGGTGGAAGATGCGGCGGAGACGGCGGAGCACGGTCCCTGCGCCCCCGGGAGCCGCTATATGAGCGGGCGGGGCACGCGTCACGGCCGGTCACCCTCCCGCTCCGCCCCTTGGTCCCGCCCCGGGATGATGGAGGGGGCTGGGGTGGGGGGAGGTGGTGCAGGGACCTCCCTCCCCAGGGGGCCTCCCAGAGAAGTCCGGGACGCCACGTGCTCCGACCCCTGCCTTGGGGGTGAGGCCCCTTAGGGAGCCACCAGTGCAGTCTCCCCCGTCCCAGCCCCCAGCCAGGCTTGGCCACCCGCAGAAATTGGGCGGAGGAAGGGAGGGGAGCGCCTGGTAAACAGGCATCTGAGAAGTCCTGCCCCTCCCCCTTAGCCTCCACCCTCCCGCCCCAGGCCTTGCCTCAGTTTCTCGGTCCGCAGCCCCCCTTCTCATTCTATTTAGACCTCATTCGCCAGAATCCTTGCAGTAACCGCGAGCCCTCCCAGTGGGCTGGGGGCTCCGGAGCGGCGATCTGGTTTGCGGGTGGGGGGCGGTAGGTTCCTGGAGGGCTTGTCCTGAAGCTGCATAGTAAAACCACGATTTTCCTCCCATGATTGGGTGCAGATGCTGGTGGGCTCCCCTGGTACACCTCTACTGGGCATTGAGCTCGTCCCAGGTGGGGTCACCCCCAGCCTGGCCTAAGGAGGAGAGTGGAGGAGTAAGACAGCTGGGTTCATATTGGGAGGGGGACAGTGAGTCCCCAGGGCTGCCTCGCTTTCCCAAAATAACACCCCTCCTCTCCAGTATTGTAATTTATCTTTATCTATATCTATACCCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGGCGCCCAGGCTGGAGTGCAATGGCCCAATCTCGGCTCACTACAACCTCAGCCTCCCAGGTCCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAAAGTTTCTCCATGTTGTTCAGGCTGGTCTCAGACTCCTGACCTCAGGCCATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCGGCCTATATATATATATTTTCGGACAGGGTCTTGCTCTGTCCCTCAGGCTGTAGTGCAGTGGCATGCTCATAGCTCACTGCAGCCTCAATGTCCTGGGCTCAAGCAATCCTCTCACCTCAGCCTCCCAAGTAGCTGGGACTGCAGGTGCATGCCATCACGCCTGGCTAATTTTCAAGATTTTTTGTAGAGATGGGGTCTCGCTATGTTGTCCAGGCTGCTCTCCAACTCCTGAGCTCAAGAGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCACTGCGCCCAGCTCAGTATTATAATTTATTACCCACCATCTCCCTTGCCTCTGCATTTCCTGTAGCATTAGGTGTATGACCTTGCCCTGGTGCTCCTCTCTGTGTCTGAATTTCACATTTGCAAGTTGGGGTGGTGAGGAAGGCCCACCCTCCAGGGTCTGATTATGCGATGACCCAGTTAACAAGGTGGCGATAGTCTCCCCTCCTGCAGAGTCAACAATAAATTGTATCTTTCTCGAGTCTAAGTATTATCAGAGGCTGGACTGGACTTCCTGTGCTGCCCCTCATGTGAAGGTCAAGCCTCCTGGGGCTGCTTCCTTGGACAGCCTCCAGTCCCGCCCTCCCAGGAAGTCTCCTCCTCGCCTCCCATCCTTGACTTTCCCACTCAAGGACTTTGGTGTATTGCTGGTGGGAGGTGGGGTAAGCCATCTTGGCCATGTGGTTGGGACCTCACATTTGCCATGGCCACTAATTTTTTTTTTTTTTTTTTTTTTTTGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTT
CACCATCGCTCAGGCTGGAGTGCAGTGGCACCATCATAGCTCATGGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCTACCTTAGCCTCACGAGTAGCTGTGACTACAGGTGCACACCACCTCACTCAGCTAATTAAAATTTTTTTCTTTTTGTAGAGACAGGGTCTCACCATGGTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCTCTCTTCCTGACTCAGCCTCCCAAAGTCCTGGGTTTATAGGCATGAACCACCATGCCCAGTGAAATCCCTGTTTTAAAGACGAGGAGGCCGGGCAAGGTGGCTCATGCTTGTAATCCAGCACTTTGGGAGCTGAGTTGGGTGGATCGTTTGAGTCCCGGAGTTTGAGACCAGCATGGGCAACATAGAGAGACCCACCTCTCTACAAAGAAAACTAAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGGTCCAGCTACTTGGGAGACTGAGGCAAGAGGATCACGTGTGCCCAGAGGTGGAGGTGACAGTGAGCCGTGATCATGCCACTGCACTCTAGCCTGGGTGACAGCAGGACAGACAGACCCTGTCTGAAAAAAAAAAAAAAAAGAGGATTTTTGAGGCCCAGAAAGGCTGAGGAGCCCATCCTAAGTTATCCATCTGAATCAACCCCTGGCAGAGCTTTACTTATTTATCTCCTTTGTGGCCTATCACCTTCTACCAGAATGGGAGCTGCACTGGGGCAGAGAGGGAGCTCCGGCTGTTTGATTCTTACCTGGATCTCCAGCTTCTAGAACAGGGCCTGGTATGCAGTGAGTGCTCACTGTTTGTTGAATGCATGAAGTGGCAGAATTGGGATGTGCACCCAGGCAGTCTGGTTCCGGTTCAGACCGTTGAATTAAAATGCCACCTCCTCCAGGAAGACTTCCCTGAATCCTTCTCTGTATCCGCCCTCCTCAGGGCTCTCACAGTGGCCTGAGCATCCCCTCATCACAGCCCTGGATGCAGGGCTGGTGCCTGGTGCCCTGTCCACCCCATCTCTGGTCTGTGGGCCCCGGTGGTGGCTGTTGACTCTGTGGTGTTAGCAGGAATAAGGAGGTTTTCCAGCCTCTGGCTCCCTGCTGGGGGACTCACCAAACACGAAGTTGTCCGGCCGAAAGATCTGACCGAAGGGGCCAGAACGGACAGAGTCCATGGTGCCGGGTTCCAGGTCCACCAGCACCGCTCTGGGGACATAATTTCCTCCTGCAGGGAAACAGATGGAGGGCAGTTCGATGCGTGCCAGGAACCACAGGCGCCCGGTAGCATCCTGTTCCCTCCCAGCTGCCCCTTCCCACCTGGAAGGTGCCTCCTTCGCCCTACCTGTGGCCTCGTTGTAGTACACGTTGATCCTCTCCAGTTGCAGGTCACTGTCCCCATGGTATGTGCCTGTGGGGTCGATGCCATGTTCGTCACTGATAACCTCCCAAAACTAGAGAGAGAGGTGGTCGGAAGAGTTGAGAGAGGGGAAGCCGGTGGCCAAGCCGAGGACTGCCCCCAGCCCCCAACTAGCTCCCTAGCTGCCACCTCTCCCCCAGCAAGGTGAACGGGGGACCTAGAGGCATGGTGTCGGGGCGAGGATGAGGCAGCAAGAAGGAGCGGTGGGGGCGGGGTGCAGCCGAGTCAGCACCCAGCGGGGCCGGCTGGTGCCAGCGCACCCAGGCTGCAGCCCGGGGGAGGCACCGGGGCTCTTTGTGCGTGAGGAGGGGACAGTGGCCCAGCTGTGGGCCCAGCTGTGACAGGCGGACAGAAGGCTGGCTCCCACTCTCCGCAGCCTCTTTGTTCCCAGTCTGGCCCTGCCACCCCCACCCCGCGACCCTTCCCCCAAGGCCCCTGGGGCGCGCTGGCCTCCTGGGGACCTCATTCCTTTCCAAAGACTCCCAGGTTGCGGGGTGCTCCGGGGACCGACCCCGCGGTGCTCCCCGGGGCCGCCACTGCCTCCCCGGGCCCCGTTCCCCGAGCACCTTGGCCCCGATCTGGTTGCCGCACTGGCCGGCCTGCAGGTGCACGATCTCCCACATGGCGGTGGCGCTGAGGGTGGACGCGGCGGCGGTGGCACGAGCGCGGGGAGCTGCGGCGGCGGCGAGGGTGGAAGATGCGGCGGAGACGGCGGAGCACGGTCCCTGCGCCCCCGGGAGCCGCTATATGAGCGGGCGGGGCACGCGTCACGGCCGGTCACCCTCCCGCTCCGCCCCTTGGTCCCGCCCCGGGATGATGGAGGGGGCTGGGGTGGGGGGAGGTGGTGCAGGGACCTCCCTCCCCAGGGGGCCTCCCAGAGAAGTCCGGGACGCCACGTGCTCCGACCCCTGCCTTGGGGGTGAGGCCCCTTAGGGAGCCACCAGTGCAGTCTCCCCCGTCCCAGCCCCCAGCCAGGCTTGGCCACCCGCAGAAATTGGGCGGAGGAAGGGAGGGGAGCGCCTGGTAAACAGGCATCTGAGAAGTCCTGCCCCTCCCCCTTAGCCTCCACCCTCCCGCCCCAGGCCTTGCCTCAGTTTCTCGGTCCGCAGCCCCCCTTCTCATTCTATTTAGACCTCATTCGCCAGAATCCTTGCAGTAACCGCGAGCCCTCCCAGTGGGCTGGGGGCTCCGGAGCGGCGATCTGGTTTGCGGGTGGGGGGCGGTAGGTTCCTGGAGGGCTTGTCCTGAAGCTGCATAGTAAAACCACGATTTTCCTCCCATGATTGGGTGCAGATGCTGGTGGGCTCCCCTGGTACACCTCTACTGGGCATTGAGCTCGTCCCAGGTGGGGTCACCCCCAGCCTGGCCTAAGGAGGAGAGTGGAGGAGTAAGACAGCTGGGTTCATATTGGGAGGGGGACAGTGAGTCCCCAGGGCTGCCTCGCTTTCCCAAAATAACACCCCTCCTCTCCAGTATTGTAATTTATCTTTATCTATATCTATACCCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGGCGCCCAGGCTGGAGTGCAATGGCCCAATCTCGGCTCACTACAACCTCAGCCTCCCAGGTCCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAAAGTTTCTCCATGTTGTTCAGGCTGGTCTCAGACTCCTGACCTCAGGCCATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCGGCCTATATATATATATTTTCGGACAGGGTCTTGCTCTGTCCCTCAGGCTGTAGTGCAGTGGCATGCTCATAGCTCACTGCAGCCTCAATGTCCTGGGCTCAAGCAATCCTCTCACCTCAGCCTCCCAAGTAGCTGGGACTGCAGGTGCATGCCATCACGCCTGGCTAATTTTCAAGATTTTTTGTAGAGATGGGGTCTCGCTATGTTGTCCAGGCTGCTCTCCAACTCCTGAGCTCAAGAGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCACTGCGCCCAGCTCAGTATTATAATTTATTACCCACCATCTCCCTTGCCTCTGCATTTCCTGTAGCATTAGGTGTATGACCTTGCCCTGGTGCTCCTCTCTGTGTCTGAATTTCACATTTGCAAGTTGGGGTGGTGAGGAAGGCCCACCCTCCAGGGTCTGATTATGCGATGACCCAGTTAACAAGGTGGCGATAGTCTCCCCTCCTGCAGAGTCAACAATAAATTGTATCTTTCTCGAGTCTAAGTATTATCAGAGGCTGGACTGGACTTCCTGTGCTGCCCCTCATGTGAAGGTCAAGCCTCCTGGGGCTGCTTCCTTGGACAGCCTCCAGTCCCGCCCTCCCAGGAAGTCTCCTCCTCGCCTCCCATCCTTGACTTTCCCACTCAAGGACTTTGGTGTATTGCTGGTGGGAGGTGGGGTAAGCCATCTTGGCCATGTGGTTGGGACCTCACATTTGCCATGGCCACTAATTTTTTTTTTTTTTTTTTTTTTTTGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTT
Task1_train_26347
A variant found in Chromosome 19 affects LOC130063295, TUBB4A (ATAC-STARR-seq lymphoblastoid silent region 9955| tubulin beta 4A class IVa). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Torsion dystonia 4
CACCATCGCTCAGGCTGGAGTGCAGTGGCACCATCATAGCTCATGGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCTACCTTAGCCTCACGAGTAGCTGTGACTACAGGTGCACACCACCTCACTCAGCTAATTAAAATTTTTTTCTTTTTGTAGAGACAGGGTCTCACCATGGTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCTCTCTTCCTGACTCAGCCTCCCAAAGTCCTGGGTTTATAGGCATGAACCACCATGCCCAGTGAAATCCCTGTTTTAAAGACGAGGAGGCCGGGCAAGGTGGCTCATGCTTGTAATCCAGCACTTTGGGAGCTGAGTTGGGTGGATCGTTTGAGTCCCGGAGTTTGAGACCAGCATGGGCAACATAGAGAGACCCACCTCTCTACAAAGAAAACTAAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGGTCCAGCTACTTGGGAGACTGAGGCAAGAGGATCACGTGTGCCCAGAGGTGGAGGTGACAGTGAGCCGTGATCATGCCACTGCACTCTAGCCTGGGTGACAGCAGGACAGACAGACCCTGTCTGAAAAAAAAAAAAAAAAGAGGATTTTTGAGGCCCAGAAAGGCTGAGGAGCCCATCCTAAGTTATCCATCTGAATCAACCCCTGGCAGAGCTTTACTTATTTATCTCCTTTGTGGCCTATCACCTTCTACCAGAATGGGAGCTGCACTGGGGCAGAGAGGGAGCTCCGGCTGTTTGATTCTTACCTGGATCTCCAGCTTCTAGAACAGGGCCTGGTATGCAGTGAGTGCTCACTGTTTGTTGAATGCATGAAGTGGCAGAATTGGGATGTGCACCCAGGCAGTCTGGTTCCGGTTCAGACCGTTGAATTAAAATGCCACCTCCTCCAGGAAGACTTCCCTGAATCCTTCTCTGTATCCGCCCTCCTCAGGGCTCTCACAGTGGCCTGAGCATCCCCTCATCACAGCCCTGGATGCAGGGCTGGTGCCTGGTGCCCTGTCCACCCCATCTCTGGTCTGTGGGCCCCGGTGGTGGCTGTTGACTCTGTGGTGTTAGCAGGAATAAGGAGGTTTTCCAGCCTCTGGCTCCCTGCTGGGGGACTCACCAAACACGAAGTTGTCCGGCCGAAAGATCTGACCGAAGGGGCCAGAACGGACAGAGTCCATGGTGCCGGGTTCCAGGTCCACCAGCACCGCTCTGGGGACATAATTTCCTCCTGCAGGGAAACAGATGGAGGGCAGTTCGATGCGTGCCAGGAACCACAGGCGCCCGGTAGCATCCTGTTCCCTCCCAGCTGCCCCTTCCCACCTGGAAGGTGCCTCCTTCGCCCTACCTGTGGCCTCGTTGTAGTACACGTTGATCCTCTCCAGTTGCAGGTCACTGTCCCCATGGTATGTGCCTGTGGGGTCGATGCCATGTTCGTCACTGATAACCTCCCAAAACTAGAGAGAGAGGTGGTCGGAAGAGTTGAGAGAGGGGAAGCCGGTGGCCAAGCCGAGGACTGCCCCCAGCCCCCAACTAGCTCCCTAGCTGCCACCTCTCCCCCAGCAAGGTGAACGGGGGACCTAGAGGCATGGTGTCGGGGCGAGGATGAGGCAGCAAGAAGGAGCGGTGGGGGCGGGGTGCAGCCGAGTCAGCACCCAGCGGGGCCGGCTGGTGCCAGCGCACCCAGGCTGCAGCCCGGGGGAGGCACCGGGGCTCTTTGTGCGTGAGGAGGGGACAGTGGCCCAGCTGTGGGCCCAGCTGTGACAGGCGGACAGAAGGCTGGCTCCCACTCTCCGCAGCCTCTTTGTTCCCAGTCTGGCCCTGCCACCCCCACCCCGCGACCCTTCCCCCAAGGCCCCTGGGGCGCGCTGGCCTCCTGGGGACCTCATTCCTTTCCAAAGACTCCCAGGTTGCGGGGTGCTCCGGGGACCGACCCCGCGGTGCTCCCCGGGGCCGCCACTGCCTCCCCGGGCCCCGTTCCCCGAGCACCTTGGCCCCGATCTGGTTGCCGCACTGGCCGGCCTGCAGGTGCACGATCTCCCGCATGGCGGTGGCGCTGAGGGTGGACGCGGCGGCGGTGGCACGAGCGCGGGGAGCTGCGGCGGCGGCGAGGGTGGAAGATGCGGCGGAGACGGCGGAGCACGGTCCCTGCGCCCCCGGGAGCCGCTATATGAGCGGGCGGGGCACGCGTCACGGCCGGTCACCCTCCCGCTCCGCCCCTTGGTCCCGCCCCGGGATGATGGAGGGGGCTGGGGTGGGGGGAGGTGGTGCAGGGACCTCCCTCCCCAGGGGGCCTCCCAGAGAAGTCCGGGACGCCACGTGCTCCGACCCCTGCCTTGGGGGTGAGGCCCCTTAGGGAGCCACCAGTGCAGTCTCCCCCGTCCCAGCCCCCAGCCAGGCTTGGCCACCCGCAGAAATTGGGCGGAGGAAGGGAGGGGAGCGCCTGGTAAACAGGCATCTGAGAAGTCCTGCCCCTCCCCCTTAGCCTCCACCCTCCCGCCCCAGGCCTTGCCTCAGTTTCTCGGTCCGCAGCCCCCCTTCTCATTCTATTTAGACCTCATTCGCCAGAATCCTTGCAGTAACCGCGAGCCCTCCCAGTGGGCTGGGGGCTCCGGAGCGGCGATCTGGTTTGCGGGTGGGGGGCGGTAGGTTCCTGGAGGGCTTGTCCTGAAGCTGCATAGTAAAACCACGATTTTCCTCCCATGATTGGGTGCAGATGCTGGTGGGCTCCCCTGGTACACCTCTACTGGGCATTGAGCTCGTCCCAGGTGGGGTCACCCCCAGCCTGGCCTAAGGAGGAGAGTGGAGGAGTAAGACAGCTGGGTTCATATTGGGAGGGGGACAGTGAGTCCCCAGGGCTGCCTCGCTTTCCCAAAATAACACCCCTCCTCTCCAGTATTGTAATTTATCTTTATCTATATCTATACCCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGGCGCCCAGGCTGGAGTGCAATGGCCCAATCTCGGCTCACTACAACCTCAGCCTCCCAGGTCCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAAAGTTTCTCCATGTTGTTCAGGCTGGTCTCAGACTCCTGACCTCAGGCCATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCGGCCTATATATATATATTTTCGGACAGGGTCTTGCTCTGTCCCTCAGGCTGTAGTGCAGTGGCATGCTCATAGCTCACTGCAGCCTCAATGTCCTGGGCTCAAGCAATCCTCTCACCTCAGCCTCCCAAGTAGCTGGGACTGCAGGTGCATGCCATCACGCCTGGCTAATTTTCAAGATTTTTTGTAGAGATGGGGTCTCGCTATGTTGTCCAGGCTGCTCTCCAACTCCTGAGCTCAAGAGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCACTGCGCCCAGCTCAGTATTATAATTTATTACCCACCATCTCCCTTGCCTCTGCATTTCCTGTAGCATTAGGTGTATGACCTTGCCCTGGTGCTCCTCTCTGTGTCTGAATTTCACATTTGCAAGTTGGGGTGGTGAGGAAGGCCCACCCTCCAGGGTCTGATTATGCGATGACCCAGTTAACAAGGTGGCGATAGTCTCCCCTCCTGCAGAGTCAACAATAAATTGTATCTTTCTCGAGTCTAAGTATTATCAGAGGCTGGACTGGACTTCCTGTGCTGCCCCTCATGTGAAGGTCAAGCCTCCTGGGGCTGCTTCCTTGGACAGCCTCCAGTCCCGCCCTCCCAGGAAGTCTCCTCCTCGCCTCCCATCCTTGACTTTCCCACTCAAGGACTTTGGTGTATTGCTGGTGGGAGGTGGGGTAAGCCATCTTGGCCATGTGGTTGGGACCTCACATTTGCCATGGCCACTAATTTTTTTTTTTTTTTTTTTTTTTTGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTT
CACCATCGCTCAGGCTGGAGTGCAGTGGCACCATCATAGCTCATGGCAGCCTCAACCTCCCAGGCTCAAGTGATTCTCCTACCTTAGCCTCACGAGTAGCTGTGACTACAGGTGCACACCACCTCACTCAGCTAATTAAAATTTTTTTCTTTTTGTAGAGACAGGGTCTCACCATGGTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCTCTCTTCCTGACTCAGCCTCCCAAAGTCCTGGGTTTATAGGCATGAACCACCATGCCCAGTGAAATCCCTGTTTTAAAGACGAGGAGGCCGGGCAAGGTGGCTCATGCTTGTAATCCAGCACTTTGGGAGCTGAGTTGGGTGGATCGTTTGAGTCCCGGAGTTTGAGACCAGCATGGGCAACATAGAGAGACCCACCTCTCTACAAAGAAAACTAAAAAATTAGCTGGGTGTGGTGGTGCATGCCTGTAGGTCCAGCTACTTGGGAGACTGAGGCAAGAGGATCACGTGTGCCCAGAGGTGGAGGTGACAGTGAGCCGTGATCATGCCACTGCACTCTAGCCTGGGTGACAGCAGGACAGACAGACCCTGTCTGAAAAAAAAAAAAAAAAGAGGATTTTTGAGGCCCAGAAAGGCTGAGGAGCCCATCCTAAGTTATCCATCTGAATCAACCCCTGGCAGAGCTTTACTTATTTATCTCCTTTGTGGCCTATCACCTTCTACCAGAATGGGAGCTGCACTGGGGCAGAGAGGGAGCTCCGGCTGTTTGATTCTTACCTGGATCTCCAGCTTCTAGAACAGGGCCTGGTATGCAGTGAGTGCTCACTGTTTGTTGAATGCATGAAGTGGCAGAATTGGGATGTGCACCCAGGCAGTCTGGTTCCGGTTCAGACCGTTGAATTAAAATGCCACCTCCTCCAGGAAGACTTCCCTGAATCCTTCTCTGTATCCGCCCTCCTCAGGGCTCTCACAGTGGCCTGAGCATCCCCTCATCACAGCCCTGGATGCAGGGCTGGTGCCTGGTGCCCTGTCCACCCCATCTCTGGTCTGTGGGCCCCGGTGGTGGCTGTTGACTCTGTGGTGTTAGCAGGAATAAGGAGGTTTTCCAGCCTCTGGCTCCCTGCTGGGGGACTCACCAAACACGAAGTTGTCCGGCCGAAAGATCTGACCGAAGGGGCCAGAACGGACAGAGTCCATGGTGCCGGGTTCCAGGTCCACCAGCACCGCTCTGGGGACATAATTTCCTCCTGCAGGGAAACAGATGGAGGGCAGTTCGATGCGTGCCAGGAACCACAGGCGCCCGGTAGCATCCTGTTCCCTCCCAGCTGCCCCTTCCCACCTGGAAGGTGCCTCCTTCGCCCTACCTGTGGCCTCGTTGTAGTACACGTTGATCCTCTCCAGTTGCAGGTCACTGTCCCCATGGTATGTGCCTGTGGGGTCGATGCCATGTTCGTCACTGATAACCTCCCAAAACTAGAGAGAGAGGTGGTCGGAAGAGTTGAGAGAGGGGAAGCCGGTGGCCAAGCCGAGGACTGCCCCCAGCCCCCAACTAGCTCCCTAGCTGCCACCTCTCCCCCAGCAAGGTGAACGGGGGACCTAGAGGCATGGTGTCGGGGCGAGGATGAGGCAGCAAGAAGGAGCGGTGGGGGCGGGGTGCAGCCGAGTCAGCACCCAGCGGGGCCGGCTGGTGCCAGCGCACCCAGGCTGCAGCCCGGGGGAGGCACCGGGGCTCTTTGTGCGTGAGGAGGGGACAGTGGCCCAGCTGTGGGCCCAGCTGTGACAGGCGGACAGAAGGCTGGCTCCCACTCTCCGCAGCCTCTTTGTTCCCAGTCTGGCCCTGCCACCCCCACCCCGCGACCCTTCCCCCAAGGCCCCTGGGGCGCGCTGGCCTCCTGGGGACCTCATTCCTTTCCAAAGACTCCCAGGTTGCGGGGTGCTCCGGGGACCGACCCCGCGGTGCTCCCCGGGGCCGCCACTGCCTCCCCGGGCCCCGTTCCCCGAGCACCTTGGCCCCGATCTGGTTGCCGCACTGGCCGGCCTGCAGGTGCACGATCTCCCCCATGGCGGTGGCGCTGAGGGTGGACGCGGCGGCGGTGGCACGAGCGCGGGGAGCTGCGGCGGCGGCGAGGGTGGAAGATGCGGCGGAGACGGCGGAGCACGGTCCCTGCGCCCCCGGGAGCCGCTATATGAGCGGGCGGGGCACGCGTCACGGCCGGTCACCCTCCCGCTCCGCCCCTTGGTCCCGCCCCGGGATGATGGAGGGGGCTGGGGTGGGGGGAGGTGGTGCAGGGACCTCCCTCCCCAGGGGGCCTCCCAGAGAAGTCCGGGACGCCACGTGCTCCGACCCCTGCCTTGGGGGTGAGGCCCCTTAGGGAGCCACCAGTGCAGTCTCCCCCGTCCCAGCCCCCAGCCAGGCTTGGCCACCCGCAGAAATTGGGCGGAGGAAGGGAGGGGAGCGCCTGGTAAACAGGCATCTGAGAAGTCCTGCCCCTCCCCCTTAGCCTCCACCCTCCCGCCCCAGGCCTTGCCTCAGTTTCTCGGTCCGCAGCCCCCCTTCTCATTCTATTTAGACCTCATTCGCCAGAATCCTTGCAGTAACCGCGAGCCCTCCCAGTGGGCTGGGGGCTCCGGAGCGGCGATCTGGTTTGCGGGTGGGGGGCGGTAGGTTCCTGGAGGGCTTGTCCTGAAGCTGCATAGTAAAACCACGATTTTCCTCCCATGATTGGGTGCAGATGCTGGTGGGCTCCCCTGGTACACCTCTACTGGGCATTGAGCTCGTCCCAGGTGGGGTCACCCCCAGCCTGGCCTAAGGAGGAGAGTGGAGGAGTAAGACAGCTGGGTTCATATTGGGAGGGGGACAGTGAGTCCCCAGGGCTGCCTCGCTTTCCCAAAATAACACCCCTCCTCTCCAGTATTGTAATTTATCTTTATCTATATCTATACCCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGGCGCCCAGGCTGGAGTGCAATGGCCCAATCTCGGCTCACTACAACCTCAGCCTCCCAGGTCCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAAAGTTTCTCCATGTTGTTCAGGCTGGTCTCAGACTCCTGACCTCAGGCCATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCGGCCTATATATATATATTTTCGGACAGGGTCTTGCTCTGTCCCTCAGGCTGTAGTGCAGTGGCATGCTCATAGCTCACTGCAGCCTCAATGTCCTGGGCTCAAGCAATCCTCTCACCTCAGCCTCCCAAGTAGCTGGGACTGCAGGTGCATGCCATCACGCCTGGCTAATTTTCAAGATTTTTTGTAGAGATGGGGTCTCGCTATGTTGTCCAGGCTGCTCTCCAACTCCTGAGCTCAAGAGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCACTGCGCCCAGCTCAGTATTATAATTTATTACCCACCATCTCCCTTGCCTCTGCATTTCCTGTAGCATTAGGTGTATGACCTTGCCCTGGTGCTCCTCTCTGTGTCTGAATTTCACATTTGCAAGTTGGGGTGGTGAGGAAGGCCCACCCTCCAGGGTCTGATTATGCGATGACCCAGTTAACAAGGTGGCGATAGTCTCCCCTCCTGCAGAGTCAACAATAAATTGTATCTTTCTCGAGTCTAAGTATTATCAGAGGCTGGACTGGACTTCCTGTGCTGCCCCTCATGTGAAGGTCAAGCCTCCTGGGGCTGCTTCCTTGGACAGCCTCCAGTCCCGCCCTCCCAGGAAGTCTCCTCCTCGCCTCCCATCCTTGACTTTCCCACTCAAGGACTTTGGTGTATTGCTGGTGGGAGGTGGGGTAAGCCATCTTGGCCATGTGGTTGGGACCTCACATTTGCCATGGCCACTAATTTTTTTTTTTTTTTTTTTTTTTTGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTT
Task1_train_26348
A variant has been detected on Chromosome 19 in C3 (complement C3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Atypical hemolytic-uremic syndrome
ACCTCCACCTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCATCTTGAGTAGTTGGGATTACAGCACACTCTTGACCCCAGGAGTCTGGTTTCACAGCCTGTGCTATACTCTGCTACAATGTTGCTATGTTGTAGCAGAAACAAATCTCTTTTATTCCTGCCCATTTGCCTCTCTGACATCCACTCCTTTTGTAAGAACTTCTTCTCCCTTCCATTCACGTGGCCACAGTGGAAACAGCCATGTCTGCCCCCTGAGACCTACTTCCTGTCCTTAGCTGATTGGTCCAGATATAGTCATCTGACCCAGGCTGAGCCAATCAGAGTCCTTTCCTGGGAATATGGCGGCCCTAACCTTGATCTGATATTTTCTCTAAGGAAGGCAGCCATATTCTGCCTGAACTGAATTATTGGCCAAGAACGGAATGAAGATCACGGGAGAGAGGAGCAAAGCATCCTGGCAGAGTCCCTGAGGCCACCTTCATCTCTATTTGATGCCTTGGTGCCTGCACATAAATTCCCCATCAATTTTTGTATAATCTGGGTCACATGTGTGTTATATCTGGGACAACTCAGAGGCCTAAAAATACAGAGATCGTTATTTATTATCCCCAATTTACAGATGCACATCCTGAGTGAGGCTCAAGGGTGGAAGTGCCCATGAGTCAGGATTTGAAGTCAGATTTGTCTGACCCCACCTCTCCTCTCTCTCTCTCTCTCTCTCTCTACCTACCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTGCCTTGGTCCCTCTTGGGTGTTAGAGGCAACAGCCCTGTGTTTGTTTTTCTCTTCACTGGCCCCTCCCCTCCATCTCTTTTCCTAAGGGGGGAGAAGCCACTAGCTGAGGGTGGAATCCTGGGCTTCCCACTTGGAAAGCTAAACGTTAAACAACCCACTCAAAACCCCACGATCAGCTAGGTGCAGTGACTCACGCCTGTAATCCGAGCACTTTGGGAGGCTAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAACAATTAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCACGCCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTCATGTCTACTAAAAAGACAAAAATTAGCCGGGTATGGTGGCGGGTGCCTGTAATCCCAGATGCTCTGGAGGCTGAAACAGTAAAGTCCCTTGAACCTGGGAGGCAAAGGGTGCAGTGAGCTGAGATCATGCCACTGCATTGCAGCCTGGGCGACAGAGTGAGACTCCATCACAAAAAATAAACAAACAAACAAACAACCACAATAAAGCAGACAAAGGCATTCCAGACTCTCAGCGGCCCATCTTTCCAAGCTTCCCTGCTTCAGAATCAAAACCAGAGGAAAAAGAGACAGTGATGAGCCAACAGTGTTCACCGTTTCCTGTTTGGAGTCACGGATCCCTTTGAAAATCACCTGAAAGATCCTCTGGACTAAGGAAATAGTCTTAGCTCTGTATCCCAAGTTTTCTTTAAGGAAGTAGCAAGTACGCAACTGTACTGATCATGTAGCACTGATGTAGAAAGCACTTTTGGAAATGGGCTGAAAACCCTCTGAAAATTGTAAGGCAGACAGAAAGAATCCCCACCTTTGATCTCTTTGTGCCTCAGTTTTCTCATCTGCAAACTGGGGATAATAAGAGTGACTTACCTTTCAGGCTGCTAAAAGGATTATGAGACTTAACATGTGAAACTATTAGAGGGCGGGTCTGTATTAGATGAGTTAAGTGCTCAAAAGATGTTAGCTATTAACATGACTGCAGTGATGTCTGTTATTGCACTGGGAGAGCTGCAAATTCCCTGAAGGCAACCTCTCACTCTCCAAGGTGGCTGTGCTCTGCATCGGGTAAGGTAGGGTAGGGTGGGAAGATGGAGGGCACTTACGTTGACCTGCTCCTCGCAAATATCTTTAGCCTCCTGCAGCGAGATGAGAACAAAGGCCGTGAGGGCCATGTCTTTCTCGTTGTTGTTCCGTAATCCACCCTGAGATAGAGAGCAGAAAGCAAGGATGGGGTCACCGGTGTGTCCACACATGGCAGTCATCCCCCCTTGCAGATTCAGAATCAGGGGGTCTGGGCAGGGCTGAGTCTCTTCTAGGTGTTACCCCGCTACCCTAGGAAGGTCAAACTTCTTAGTATTAATTCATGCAACAATTTGTTCCTTCTGCAAATGTCAATGTACAATGTGCAATGTACAATGGGTACAACGGTCTGATCCATTGTAAAACCAGACACAGGCTCTAGCCCTCACAGAGCTTTTGTCTAGTAGGGAAGATGGACATGGTCCATCCAGCTCCTCAAGAGATATACACTTTTTTTTTTTTTTTTTGGGACAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCGACTCCCTGCAACCTCCGCCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGGATTACAAGCATGCACCACCACACCAAGCTAATTTTTTTGTATTTAGTAGAGATGGGGTTTCCCCTGTTGGTCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGAGATATATACTTATAAGTGGATGAGTTCTGTGCAAGGGAAAGAGGACATCGCAGCGATAATGAACTGTGGGAGTGTGACCCAGTTGGGGAGGTCAGAAAAAGTGTCCCTGAGGGAGTCAACTCTCACAGACGGCAGGGATTAGCATACTAGGTGGCAGAAACAGCATGTGCAAAGGCCCTGTAGAACAATAGAGCAAGGCTCCTATCAATGGATGGAGCCTGGAAAGAAAAGAAAGGCTGGAAGTCTGGAAGCCTGAAAGGTGAGACTGAGGCAGTGATTCTCCATCTCAAGCACACATTAGCATCACCTGGAGGAATGCGGGCACTTTTAAAAACTCAGATTCCTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCTGGGCATGGTGGAGCGGGCACCTGTAATCCCAGCTACTGAGGAGGTTGAGGTAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGCCATTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCATCTCAAACACACACACACACACACACACACACACACACACACACACACACACTCACACCCCTCAGATTCCTGGGTCCTGCCCCTAGAATTTCTGATTCAGTGAGTCTGGGGTCCGGTCTCAGAATATGTTTTGTTTTTGAGACAGGGTCTCACTCTGTTATCAGCCTGGAGTGCAGTGTCATGATCATGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCCATCCTCCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCATGGGCCGTCGAGCCCAGCCACAGAATGCACATTTTTAGTAAGTCATGGGTGCTGTTGCTGCCGCTGGTCTGAGGATCACACTTCGAGAACCAGTGCTCGAAGGAGTTTTGTGTTTAAGTGCCACAGGGGGAGCCACGGGACTTTCTAAGAACTGATCCAGCTGGATTTGAAAAAATCACCCCAACTGCTATGTGGTGAGTGTCTGAGAGCCAACAAAAGTGGGAGGCCACCAGGATGATGACCAGGAGGTGGTTTCTACAAGGTCTCCAAATAAGGAGGGGCGGGGAGAGTGTTGCTTGGACCAGGGGCTGGCCATAAGGATGGAGAGAAGGAGGTGATTCTTATAACATCATGGGAGAATGCAGGTGTTGATGGATTGAATGTGAGAAAGGGATTCCCAGGCAGGACCCCTGCACTTGGTTTAATGAAATTCTTAATAATTTCTGA
ACCTCCACCTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCATCTTGAGTAGTTGGGATTACAGCACACTCTTGACCCCAGGAGTCTGGTTTCACAGCCTGTGCTATACTCTGCTACAATGTTGCTATGTTGTAGCAGAAACAAATCTCTTTTATTCCTGCCCATTTGCCTCTCTGACATCCACTCCTTTTGTAAGAACTTCTTCTCCCTTCCATTCACGTGGCCACAGTGGAAACAGCCATGTCTGCCCCCTGAGACCTACTTCCTGTCCTTAGCTGATTGGTCCAGATATAGTCATCTGACCCAGGCTGAGCCAATCAGAGTCCTTTCCTGGGAATATGGCGGCCCTAACCTTGATCTGATATTTTCTCTAAGGAAGGCAGCCATATTCTGCCTGAACTGAATTATTGGCCAAGAACGGAATGAAGATCACGGGAGAGAGGAGCAAAGCATCCTGGCAGAGTCCCTGAGGCCACCTTCATCTCTATTTGATGCCTTGGTGCCTGCACATAAATTCCCCATCAATTTTTGTATAATCTGGGTCACATGTGTGTTATATCTGGGACAACTCAGAGGCCTAAAAATACAGAGATCGTTATTTATTATCCCCAATTTACAGATGCACATCCTGAGTGAGGCTCAAGGGTGGAAGTGCCCATGAGTCAGGATTTGAAGTCAGATTTGTCTGACCCCACCTCTCCTCTCTCTCTCTCTCTCTCTCTCTACCTACCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTGCCTTGGTCCCTCTTGGGTGTTAGAGGCAACAGCCCTGTGTTTGTTTTTCTCTTCACTGGCCCCTCCCCTCCATCTCTTTTCCTAAGGGGGGAGAAGCCACTAGCTGAGGGTGGAATCCTGGGCTTCCCACTTGGAAAGCTAAACGTTAAACAACCCACTCAAAACCCCACGATCAGCTAGGTGCAGTGACTCACGCCTGTAATCCGAGCACTTTGGGAGGCTAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAACAATTAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCACGCCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTCATGTCTACTAAAAAGACAAAAATTAGCCGGGTATGGTGGCGGGTGCCTGTAATCCCAGATGCTCTGGAGGCTGAAACAGTAAAGTCCCTTGAACCTGGGAGGCAAAGGGTGCAGTGAGCTGAGATCATGCCACTGCATTGCAGCCTGGGCGACAGAGTGAGACTCCATCACAAAAAATAAACAAACAAACAAACAACCACAATAAAGCAGACAAAGGCATTCCAGACTCTCAGCGGCCCATCTTTCCAAGCTTCCCTGCTTCAGAATCAAAACCAGAGGAAAAAGAGACAGTGATGAGCCAACAGTGTTCACCGTTTCCTGTTTGGAGTCACGGATCCCTTTGAAAATCACCTGAAAGATCCTCTGGACTAAGGAAATAGTCTTAGCTCTGTATCCCAAGTTTTCTTTAAGGAAGTAGCAAGTACGCAACTGTACTGATCATGTAGCACTGATGTAGAAAGCACTTTTGGAAATGGGCTGAAAACCCTCTGAAAATTGTAAGGCAGACAGAAAGAATCCCCACCTTTGATCTCTTTGTGCCTCAGTTTTCTCATCTGCAAACTGGGGATAATAAGAGTGACTTACCTTTCAGGCTGCTAAAAGGATTATGAGACTTAACATGTGAAACTATTAGAGGGCGGGTCTGTATTAGATGAGTTAAGTGCTCAAAAGATGTTAGCTATTAACATGACTGCAGTGATGTCTGTTATTGCACTGGGAGAGCTGCAAATTCCCTGAAGGCAACCTCTCACTCTCCAAGGTGGCTGTGCTCTGCATCGGGTAAGGTAGGGTAGGGTGGGAAGATGGAGGGCACTTACGTTGACCTGCTCCTCGCAAGTATCTTTAGCCTCCTGCAGCGAGATGAGAACAAAGGCCGTGAGGGCCATGTCTTTCTCGTTGTTGTTCCGTAATCCACCCTGAGATAGAGAGCAGAAAGCAAGGATGGGGTCACCGGTGTGTCCACACATGGCAGTCATCCCCCCTTGCAGATTCAGAATCAGGGGGTCTGGGCAGGGCTGAGTCTCTTCTAGGTGTTACCCCGCTACCCTAGGAAGGTCAAACTTCTTAGTATTAATTCATGCAACAATTTGTTCCTTCTGCAAATGTCAATGTACAATGTGCAATGTACAATGGGTACAACGGTCTGATCCATTGTAAAACCAGACACAGGCTCTAGCCCTCACAGAGCTTTTGTCTAGTAGGGAAGATGGACATGGTCCATCCAGCTCCTCAAGAGATATACACTTTTTTTTTTTTTTTTTGGGACAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCGACTCCCTGCAACCTCCGCCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGGATTACAAGCATGCACCACCACACCAAGCTAATTTTTTTGTATTTAGTAGAGATGGGGTTTCCCCTGTTGGTCAGGCTGGTCCCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGAGATATATACTTATAAGTGGATGAGTTCTGTGCAAGGGAAAGAGGACATCGCAGCGATAATGAACTGTGGGAGTGTGACCCAGTTGGGGAGGTCAGAAAAAGTGTCCCTGAGGGAGTCAACTCTCACAGACGGCAGGGATTAGCATACTAGGTGGCAGAAACAGCATGTGCAAAGGCCCTGTAGAACAATAGAGCAAGGCTCCTATCAATGGATGGAGCCTGGAAAGAAAAGAAAGGCTGGAAGTCTGGAAGCCTGAAAGGTGAGACTGAGGCAGTGATTCTCCATCTCAAGCACACATTAGCATCACCTGGAGGAATGCGGGCACTTTTAAAAACTCAGATTCCTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCTGGGCATGGTGGAGCGGGCACCTGTAATCCCAGCTACTGAGGAGGTTGAGGTAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGCCATTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCATCTCAAACACACACACACACACACACACACACACACACACACACACACACACTCACACCCCTCAGATTCCTGGGTCCTGCCCCTAGAATTTCTGATTCAGTGAGTCTGGGGTCCGGTCTCAGAATATGTTTTGTTTTTGAGACAGGGTCTCACTCTGTTATCAGCCTGGAGTGCAGTGTCATGATCATGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCCATCCTCCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCATGGGCCGTCGAGCCCAGCCACAGAATGCACATTTTTAGTAAGTCATGGGTGCTGTTGCTGCCGCTGGTCTGAGGATCACACTTCGAGAACCAGTGCTCGAAGGAGTTTTGTGTTTAAGTGCCACAGGGGGAGCCACGGGACTTTCTAAGAACTGATCCAGCTGGATTTGAAAAAATCACCCCAACTGCTATGTGGTGAGTGTCTGAGAGCCAACAAAAGTGGGAGGCCACCAGGATGATGACCAGGAGGTGGTTTCTACAAGGTCTCCAAATAAGGAGGGGCGGGGAGAGTGTTGCTTGGACCAGGGGCTGGCCATAAGGATGGAGAGAAGGAGGTGATTCTTATAACATCATGGGAGAATGCAGGTGTTGATGGATTGAATGTGAGAAAGGGATTCCCAGGCAGGACCCCTGCACTTGGTTTAATGAAATTCTTAATAATTTCTGA
Task1_train_26349
This variant lies on Chromosome 19 and affects the gene C3 (complement C3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Atypical hemolytic-uremic syndrome with C3 anomaly
TCAATCCCTAAATCTAGATAATTTTTACATTTTTTTTGTAGAGATGTAGTCTCCCTAGCTTTCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAGTCTTCCCACCTCTGCCTCCCGAAATGTTGGAATTACAGGCTTGAGCCATTGCATTTGCCCCAATTATTTTTTGAGACAGGGTCTCACTCTGCCACCCAGGCTGGAGTGCAGTGGTGCGATCACGGCTCACTGCAGCCTGGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGGGGTAGCTGCAACCACAAGCAAGCACCACCACACACAGCTGTTTTTTTGTTTGTTTTTAACTTTTCTTTTTTGTAGAGACAGGGTCTGGCTGTGTTGCCCAGGCTGGTCTTGGACTCTTGGGCTCAAGCGATCCTCCCGCCTTGGCCTCCCAAACAGCTGGGATTACAAGTGTGAGCCACTGCACCTAGCCTTGTATGATTTCAACACATCCTCATGATAATTCTATGAGAACACCCTCCTTCCCCTTCTCTCCTCCCATCCTTCTCGCTTCTTCCAGTAAGTTTTTTATTAAACCCAACTATATACCAGCATTGTGCTGAGTTCAGGTGACAAAACCCTCAACAAACATAACAATTCCTTCCTGGAGGGATTTAGGTTCAATAGAGGGCGAGGCGATGGGAGAAGCAATTATCAAATGAATAAATCTCATTTGCAGGACATGGCAGGAAGGAGGAGTGTGTGTAGCGGGGAGGGGGGACGCTCAGGGTGGGTATTTGCGACTTTATAGGTTACTCAGAGAGACCTCATTGTAAAATTGAGACATTGGTGACATTTGAGCAAAGACTTAAAGGAGGAGAGAGAACAAGCTGTGTGGATATTTGGAAGAAGAGGGTTTTCTTGAGAAGAGGGCACAGCCCGTGCCAAGGCGCCAAGGCAGGACTGCACCTGGGTGTTGGAGGAACAGGGAGGATGGCCCGTGTGGCTCCAGAAGAGTGAACGAGGGGGAGAGAGGGAGGAGGGGAGGGCAGGGAAGGGACAGGGCAAGGTGTGCAGGGCCTTGTGGACTGCAGGGAGGACTTGGGCTTTGACGCATAGGAAGGTGGGAGCCATGGAGGGCTGTAGGCAGAGCAGGGATGGGCCCTGACTCAGGTGCTCACAGGCGTCCTCTGGCTGCCGTCGGTAGAATAGATGACATACAATTATCCGTCATGATCCCGATATTCAGATAAGGTAACTGAGGCTCAGGGAGGTGAAGTGATCAGGGGTTTAACTGAAAGCAGAATCCACGGACACCTGCACTGCTCCCTGGGGTCTCCCTGGATCTCCACCTTGTCTCTCAGCCTGTGTGTGTGTGTGTGTGTGTGTGCGCGCCATATGGTGTATTGTGTGGTTGTGTGTTGGGTTGTGTGTTGTGTGTGCTATGTTTGTGTGCACTGTGTTGTGTGGTCGTGTATGTTGTGTGGTTGTGTGTTGTGTGGTTGTGTATGTTGTGTGTGTGTTGTGTTTTGTGTGTGTTGTGTGTGTTGTGTGTTGTGTGTGTTTGTGTGTGTTGTGTGATAGTGTTGTGTGGTTGTGTGTTGTGTGTGGTGTGGTTATGTATGTTGTGTTGTGTTGTGTGTGTTTTGTGTGTATTGCGTGGTTGTGTATGTTGTGTATTGTGTTGTGTGTGTTGTGTGTTGTGTGTGTGGTCATGCACGTTGTGCTGTGTGTATTGTGTTGTGTGTTGTGTTGTGTGTGTTGTGTGGTCGTGTATGTTGTGTGTTTGTGTGTGTTGCATTGTGTGTGTGCATTGTGTGTGCACATGTGTCTGCATATCTCTTTGCCTCTGTGTGTGTATTGTGTGCTGTGTGTGTGCATGTTGTGTGCTGTATGTGTGTGTGTTGTGTGGGTGTGTGTCTGCATATCTCTTTGCCTCTGTGTCTCTGCCACTGCACCCCTTCCGGTGTGTCTTTCTCTGTCTCTCTCGATCTCTTTGCCTCTCCTAAGCCTGTGCCCCTGCTTCCCCTGGGGCCCCCTCTGGCTGGCACCTCAATGTTGACCATGACCGTCCGGCCCACGGGTAGCAGCTTGTGGTTGACGGTGAAGATCCGATAGAGAACTGGGGAGAGACAAAGAGGCCTCGTGAGACCCTAGCCCGCCCACGCCGGTGCCCCGCCCTCTCCAGCCGCCCCCAGCCTCACCTGTGGAGCCAGGGGTGTAGATGGTCTTGTCTGTCTGGATGAAGAGGTACCCGCTCTGCAGGCTGACCAGCACCACCTTCTCCACCACTTGGGTCCCGAAGGTGGCCTGCACGGTCACGAACTTGTTGCGCCCCTTTTCTGACTTGAACTCCCTGTTGGCTGGGATCTAGGCGTGGGCAGGGCATTGTCAGGGGTCTGTTCCAAGGCCCCATGCCCACGGTCCAGCTTCCGGATCTTGGGCTGGGTCCCTCCTTGCCTGCCCATTATTCTTGGTCTTCCGAGGTGGCCGTTTTGGGGAGGGAGGGGCATGTGAAGGAGGTGCGAGGGGAGAGGGGGGACCAGGGAGGGAACTCAAAAAGAAGAGCTCACAAGGAGGAGAGAGCTTATAGGAGGAGGGGCTCAGAAGGGGCGGGGACTCAGAAAGGGAAGGGGCTGACATGGGAGGGGCTCAGAAAGGGGGAGGGACTCAGGTGAGGGAACTTAGAAAGTGATGGAGACTAAGAGGGGAGGAGTTCAGAAGAGGAGACTTCGAGGGGGAGGGGCTTGGAAAAGGAATTCAGTGGGAGGGACTTAGAGGGGGAGGAGACTCAGAAGGGGTGGAGTCTCAGAGAAGGGGAGGAACCTCAGAAGGGGTGGGGTCTCAGGGAAGGGAGGGACTCAGAAGGGGAGGAGTCTCAGAAGGGGTGGGGTCTCAGGGAAGGTCAGGGCTTAGAAGGGGAGGAGATTCAGAAGGGGTGGGGGGGGGTCTCAGAAAAGGGAGGGGCTTATAAGGGGAGGAGACTCAGAAGGGGTGGAGTCTCAGAGAAGGGAGGGGCTTAGAAGGAGAGGCGACTCCGAAGGGGTGGAGTCTCAGGGAAGGGCAGGGCTTAGAAAGGGAGAAGACAGAAGGGGAGGGGCTCAGGAGGAGGGGGGGAGTGGGCGTGGCTGTGGGTGTCAGCCGGGTCCTGCGCCAGTCTGCACTCACCGTGAAGGTGACGTTGCCCATGTGGTTGGTGGCAGGGGTCAGCACAGTCTTCTCACTGGACAGCACTAGTTTTTTGCCTGGGAAGTCGTGGACAGTAACAGTGACTGGAACATCCCCTTGCGCGTCGTGGGCCTCCAGCACCATGGTCTCCTCGCTCTCCAGCCGCAAGATGTTGGGGGTGATGATAGAGTACCTGTCGGAGTGGGGCACGGGAGTGGGCTTGTCATTCCACGGATGTGAGACGCCAGTCCTCACTGGAGTCAGCGCCTGGCAGGCTGTGTGCCCCAGCCTCTGGTCCTGGAGAGGATCCAGTGACTGCCGGCGCACTTGCCAATGCCATTATCTTCTCTGGGCACTGCCACCGTCTCAACCACATGGGCAGGACAGCAGCCACCATGACTCCCACTCTCAGCCAGCTGGGCCTGGCCTTTGAAAGCCTGGGCAACGAGGGGGCCACACATCCCACCAAACCCTGAACCTTCCAACCAGCGTCAGCAACTCCTCCAAGTCTCTGGACTTCCAGACCCACAATCGCCTAAACCCACACATGCCCCAAACCCTAAACCTCTACCTCTCTAAACACTCCAAATATGTAAACACTCAAACTCCCGGACACCCTCAACTCTACCTACCCAAACCCACATACGCCAAAACCTCTAAACCTCAAATCTTAGAGCACCCCAAACCCAGCCTAAACCTCCAACACCCCAGTCCTAATAAATACAATCAATTCCAAATGCCCCAACTATACATGAACCCGAAGTAGCCAATCTTTAAACCCACACTGAAAATTGCAAGTCCCCAAGCTGCAAACTCCCAAATCTTGTAAAGTCCAAACCTCCGAGTCTCCAAACACCCCCAACCGCACCATCAATGAACACCACATACACCCTAAACCAACAGATGACCTCAATTCTAGAAACATCCCAAACTCCAATTCCACCATACCTGGAT
TCAATCCCTAAATCTAGATAATTTTTACATTTTTTTTGTAGAGATGTAGTCTCCCTAGCTTTCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAGTCTTCCCACCTCTGCCTCCCGAAATGTTGGAATTACAGGCTTGAGCCATTGCATTTGCCCCAATTATTTTTTGAGACAGGGTCTCACTCTGCCACCCAGGCTGGAGTGCAGTGGTGCGATCACGGCTCACTGCAGCCTGGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGGGGTAGCTGCAACCACAAGCAAGCACCACCACACACAGCTGTTTTTTTGTTTGTTTTTAACTTTTCTTTTTTGTAGAGACAGGGTCTGGCTGTGTTGCCCAGGCTGGTCTTGGACTCTTGGGCTCAAGCGATCCTCCCGCCTTGGCCTCCCAAACAGCTGGGATTACAAGTGTGAGCCACTGCACCTAGCCTTGTATGATTTCAACACATCCTCATGATAATTCTATGAGAACACCCTCCTTCCCCTTCTCTCCTCCCATCCTTCTCGCTTCTTCCAGTAAGTTTTTTATTAAACCCAACTATATACCAGCATTGTGCTGAGTTCAGGTGACAAAACCCTCAACAAACATAACAATTCCTTCCTGGAGGGATTTAGGTTCAATAGAGGGCGAGGCGATGGGAGAAGCAATTATCAAATGAATAAATCTCATTTGCAGGACATGGCAGGAAGGAGGAGTGTGTGTAGCGGGGAGGGGGGACGCTCAGGGTGGGTATTTGCGACTTTATAGGTTACTCAGAGAGACCTCATTGTAAAATTGAGACATTGGTGACATTTGAGCAAAGACTTAAAGGAGGAGAGAGAACAAGCTGTGTGGATATTTGGAAGAAGAGGGTTTTCTTGAGAAGAGGGCACAGCCCGTGCCAAGGCGCCAAGGCAGGACTGCACCTGGGTGTTGGAGGAACAGGGAGGATGGCCCGTGTGGCTCCAGAAGAGTGAACGAGGGGGAGAGAGGGAGGAGGGGAGGGCAGGGAAGGGACAGGGCAAGGTGTGCAGGGCCTTGTGGACTGCAGGGAGGACTTGGGCTTTGACGCATAGGAAGGTGGGAGCCATGGAGGGCTGTAGGCAGAGCAGGGATGGGCCCTGACTCAGGTGCTCACAGGCGTCCTCTGGCTGCCGTCGGTAGAATAGATGACATACAATTATCCGTCATGATCCCGATATTCAGATAAGGTAACTGAGGCTCAGGGAGGTGAAGTGATCAGGGGTTTAACTGAAAGCAGAATCCACGGACACCTGCACTGCTCCCTGGGGTCTCCCTGGATCTCCACCTTGTCTCTCAGCCTGTGTGTGTGTGTGTGTGTGTGTGCGCGCCATATGGTGTATTGTGTGGTTGTGTGTTGGGTTGTGTGTTGTGTGTGCTATGTTTGTGTGCACTGTGTTGTGTGGTCGTGTATGTTGTGTGGTTGTGTGTTGTGTGGTTGTGTATGTTGTGTGTGTGTTGTGTTTTGTGTGTGTTGTGTGTGTTGTGTGTTGTGTGTGTTTGTGTGTGTTGTGTGATAGTGTTGTGTGGTTGTGTGTTGTGTGTGGTGTGGTTATGTATGTTGTGTTGTGTTGTGTGTGTTTTGTGTGTATTGCGTGGTTGTGTATGTTGTGTATTGTGTTGTGTGTGTTGTGTGTTGTGTGTGTGGTCATGCACGTTGTGCTGTGTGTATTGTGTTGTGTGTTGTGTTGTGTGTGTTGTGTGGTCGTGTATGTTGTGTGTTTGTGTGTGTTGCATTGTGTGTGTGCATTGTGTGTGCACATGTGTCTGCATATCTCTTTGCCTCTGTGTGTGTATTGTGTGCTGTGTGTGTGCATGTTGTGTGCTGTATGTGTGTGTGTTGTGTGGGTGTGTGTCTGCATATCTCTTTGCCTCTGTGTCTCTGCCACTGCACCCCTTCCGGTGTGTCTTTCTCTGTCTCTCTCGATCTCTTTGCCTCTCCTAAGCCTGTGCCCCTGCTTCCCCTGGGGCCCCCTCTGGCTGGCACCTCAATGTTGACCATGACCGTCCAGCCCACGGGTAGCAGCTTGTGGTTGACGGTGAAGATCCGATAGAGAACTGGGGAGAGACAAAGAGGCCTCGTGAGACCCTAGCCCGCCCACGCCGGTGCCCCGCCCTCTCCAGCCGCCCCCAGCCTCACCTGTGGAGCCAGGGGTGTAGATGGTCTTGTCTGTCTGGATGAAGAGGTACCCGCTCTGCAGGCTGACCAGCACCACCTTCTCCACCACTTGGGTCCCGAAGGTGGCCTGCACGGTCACGAACTTGTTGCGCCCCTTTTCTGACTTGAACTCCCTGTTGGCTGGGATCTAGGCGTGGGCAGGGCATTGTCAGGGGTCTGTTCCAAGGCCCCATGCCCACGGTCCAGCTTCCGGATCTTGGGCTGGGTCCCTCCTTGCCTGCCCATTATTCTTGGTCTTCCGAGGTGGCCGTTTTGGGGAGGGAGGGGCATGTGAAGGAGGTGCGAGGGGAGAGGGGGGACCAGGGAGGGAACTCAAAAAGAAGAGCTCACAAGGAGGAGAGAGCTTATAGGAGGAGGGGCTCAGAAGGGGCGGGGACTCAGAAAGGGAAGGGGCTGACATGGGAGGGGCTCAGAAAGGGGGAGGGACTCAGGTGAGGGAACTTAGAAAGTGATGGAGACTAAGAGGGGAGGAGTTCAGAAGAGGAGACTTCGAGGGGGAGGGGCTTGGAAAAGGAATTCAGTGGGAGGGACTTAGAGGGGGAGGAGACTCAGAAGGGGTGGAGTCTCAGAGAAGGGGAGGAACCTCAGAAGGGGTGGGGTCTCAGGGAAGGGAGGGACTCAGAAGGGGAGGAGTCTCAGAAGGGGTGGGGTCTCAGGGAAGGTCAGGGCTTAGAAGGGGAGGAGATTCAGAAGGGGTGGGGGGGGGTCTCAGAAAAGGGAGGGGCTTATAAGGGGAGGAGACTCAGAAGGGGTGGAGTCTCAGAGAAGGGAGGGGCTTAGAAGGAGAGGCGACTCCGAAGGGGTGGAGTCTCAGGGAAGGGCAGGGCTTAGAAAGGGAGAAGACAGAAGGGGAGGGGCTCAGGAGGAGGGGGGGAGTGGGCGTGGCTGTGGGTGTCAGCCGGGTCCTGCGCCAGTCTGCACTCACCGTGAAGGTGACGTTGCCCATGTGGTTGGTGGCAGGGGTCAGCACAGTCTTCTCACTGGACAGCACTAGTTTTTTGCCTGGGAAGTCGTGGACAGTAACAGTGACTGGAACATCCCCTTGCGCGTCGTGGGCCTCCAGCACCATGGTCTCCTCGCTCTCCAGCCGCAAGATGTTGGGGGTGATGATAGAGTACCTGTCGGAGTGGGGCACGGGAGTGGGCTTGTCATTCCACGGATGTGAGACGCCAGTCCTCACTGGAGTCAGCGCCTGGCAGGCTGTGTGCCCCAGCCTCTGGTCCTGGAGAGGATCCAGTGACTGCCGGCGCACTTGCCAATGCCATTATCTTCTCTGGGCACTGCCACCGTCTCAACCACATGGGCAGGACAGCAGCCACCATGACTCCCACTCTCAGCCAGCTGGGCCTGGCCTTTGAAAGCCTGGGCAACGAGGGGGCCACACATCCCACCAAACCCTGAACCTTCCAACCAGCGTCAGCAACTCCTCCAAGTCTCTGGACTTCCAGACCCACAATCGCCTAAACCCACACATGCCCCAAACCCTAAACCTCTACCTCTCTAAACACTCCAAATATGTAAACACTCAAACTCCCGGACACCCTCAACTCTACCTACCCAAACCCACATACGCCAAAACCTCTAAACCTCAAATCTTAGAGCACCCCAAACCCAGCCTAAACCTCCAACACCCCAGTCCTAATAAATACAATCAATTCCAAATGCCCCAACTATACATGAACCCGAAGTAGCCAATCTTTAAACCCACACTGAAAATTGCAAGTCCCCAAGCTGCAAACTCCCAAATCTTGTAAAGTCCAAACCTCCGAGTCTCCAAACACCCCCAACCGCACCATCAATGAACACCACATACACCCTAAACCAACAGATGACCTCAATTCTAGAAACATCCCAAACTCCAATTCCACCATACCTGGAT
Task1_train_26350
Here is a variant affecting INSR (insulin receptor) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Insulin-resistant diabetes mellitus AND acanthosis nigricans
GCTCACATCAGATGCTGGCTGTGTGTGTGGACAATTGTCAAGGCAGAAATAGCATTGCTAGAGGTGCTGAGAGATGGTGTTTTCTTTTTGCTTTTCTTCTTCTTATTTTGGACACAGCGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTGCAGCCTCTGCCTCCTAGGCTCGAGCAATCCTCTCACCTTGGCCTCCCAAGTAGCTGGGACCACAGGTGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTTGCAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGGCCTCAAACTCCTAGGCTCAAATGATCCACCCACCTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTTAGCCACCATGCCTGGCCGCTTTTTTTTTTTTTTGAGACAGGGTTTCTCACTTTGTCACCCAGGATGGAGTGCAGTGGCGCAATCATAGCTCATTGCAGCCTTGAACTCCTGGGCTCAAGCCATCCTCCTGCCTCAACCTCCCAAAGTGCTGAGGTTCCAGGCATGAGCCATCCTGTCCAGCCTGAAAGATGGTTTTGAAAAGGGATTCCTCATTTCAAAACTGGCTCAAGAGTAATCCCAGCACTTTGGGAGGTTGAGCCAGGAGGCTGAGTCCAGGAGTTCAAGGTTGCAGTGAGCTGTGATTGTGCCACTGCGCTCTACCAGCCTGGGTGACACAGCGAGACTTCATCTAAATATATATATATGTACATATGCATATATATTTGGAGGGGGGAATATATAATATGTATGCCTGACAAAATTTTTGTGTGTCTGTGTTTGTTTTTGAGACAGAATCTCACTCTGTCACCCATGCTGCAGTGCAATGGTGCAGTCTCTGCTCACTGCAACCTCTGCCTCCCCGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACGACCGCGCCTGGGTAATTTTTATATTTTTAATAGAGGCGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAGGTGATCGTTCACCTCGGTCTCCCAAATTGCTTGGGATTACAGGCGTGAGCCACCCATGCCCAGCTACCTGACAAAATTTTAAGTGTATAAAGAATTAACAGGCGGCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCATTTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCGCGGTGGTGGGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAAGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGAAGTCAGCCGAGCTCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTAACAGGCAAACAGGTCTCTCTCCCCCAACCCCAGGTCTCCAGTTCCCTTCTCCCAAGATAACTACCGCTATAGGTGTTTTGTGCAACCTTCCAAAGATACAATATGCAAGAAAATCATATGATTTGTGAACACAAGCAGGCAGGTAAAGACATAATATGTAAACATGTGTGCTTATAATATGTAAATGAGGTGTACATGTGCCATGATATGCTGATGCACACAGAAACATATAATATGCAAACATAAATACCTATGTAAATATATAATATGCAAACGTAAGCGTACATGTAGCACATATGGGAACTCAAGTGTGTGTACCACAATGCAATATGCAAATGCAAGCATGCATGTAAAGACAAGCTATGCAAACACAAACACACCTGTAACATACAGCATGCAAACACGGTGAGCGTGTAGACATAGGAAAGGCAAAACCAAGCACACGTGTAAAGGGCAATACCCTTTCAACGAACACCTCACACACCTTAAACCCTTTCTACACTTACACTCTCTCTGGACAGTTGTCGGGTTGATCCAGATACCCTCCATCCATGACAAATTTCAACACCTGTTCATTAGACAGGCCTTGGTAAGGCTGTTCTGCCAAGCTGGTGATTTCCCAAAGGACCACGCCAAAGGACCTGCCGATGACAGTTGATAGTAGTAACAAAGAAGCCATTTAGACACACACACACACGCGCGCGCGCAAACACACACACGCAAACGCACACACACACGCAAACACACATGCCAACACATACATGCAAACACACACATGCAAACACACACGCACATACACGTGCACACACATGCAAATACACACAAACACGCATGCGCACACATGCACACACAAATATGCAAACACACAAACACATATACACACACAAACACACACACCCAAACACACACACGCACACACATGCAAACACACACAAACACACATATGCACACACATACACACACAAACACACACACAAACACATCTCTTGGTTTCTAGAACATGGTTAGCCACTTAATAAAACAATTCATGCTGCAGTTCATAAATGCTGTGAAAGGAAAATCAATTTGGGGCTCCCAAATCACTAAACTCAAGGAAAAAGTCCAGCTAGGAACTGCTTGGACAAACCTGCTTCCCATTCTATTCAGAGTCCCCACTCTGCTCACTGAGATACCTGCATATCTGATTGGCTCCTTTGGAGAGGCGCATCAGAAACTCAAAAGAATGCAACCATTTGTCTCTTATCTACCTACAACCTGGAAGCTCCCTCCCCACTTCGAGTTGTCTCGTCTTTCCAGACCGAACCAATGTTCATCTTATATATGTTGACTGATGTCTCATGTCTCCCTAAAATGTATAAAACCAAACTGTGCTCTGACCACCTTGGGCACCTGTCCTCAGGACCACCTGAGGCTGTGCCACGGGCACACGTCCTCAACCTTGGCAAAATAAACTTCCTAAATTAACTGAGACCTGTCTCAGATTTTCGGGGTTCACAATGCCTACAGGATTAGTCAGGACATAAGAGTAGCCGTGGGAAGATCCTAAGACAGGACGCTGCCTTCCTTTCCTTGATGGGGCGTCCAGGAGGATGGCAGGCTTCCTTCCCCCGCTCTTGGCTCTCACTAGCACCTGGAATTCAAGCCCAGCGTCCATCCACCCATCCACACACAACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCGTACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGAAGGGGGAAGATGGGCTACTGTTTAAAGGGAGGGAAAAGAAGGTACCAAATCACAAAGAAGCTACATTTTTCTTTTTTTTTTTCTTTGATATGGAGCCTCACTCTGTCCTCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCTGATTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGCTGTCTGCCACCATGTCTAGCTAATGTTTTGTATTTTGAGTAGAGACAGGGTTTCACCGTGTTGACCAGGCTGGTCTCGAACTCCTGATCTCAGGTAATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCTGGCCAGGAGATGTCTTTTTGAGTCATAAATAGAATCATATCACTTCCTGCTGCCCCTTGCTAATGTAAGATAATGTCGAGATGACTTGCTGTGACACGCAAGGTCCTTCTGGGTCTGGTTTCTGCCTCTCTCCTCATCCTCACATCTCACGCTGCTCTGGTCCCCTCTATATTCCTTTTTTATTTGTTTTTTGAAATAGCGTCTCACTGTCACCCAGGCTGGAGTGCAGTGATGCTGTCACAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTCCCACCCCAGCCTCCTGAGTAGCTGGGACCACAGG
GCTCACATCAGATGCTGGCTGTGTGTGTGGACAATTGTCAAGGCAGAAATAGCATTGCTAGAGGTGCTGAGAGATGGTGTTTTCTTTTTGCTTTTCTTCTTCTTATTTTGGACACAGCGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTGCAGCCTCTGCCTCCTAGGCTCGAGCAATCCTCTCACCTTGGCCTCCCAAGTAGCTGGGACCACAGGTGTGCACCACCATGCCTAGCTAATTTTTGTATTTTTTGCAGAGACAGGGTTTTGCTATGTTGCCCAGGCTGGCCTCAAACTCCTAGGCTCAAATGATCCACCCACCTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTTAGCCACCATGCCTGGCCGCTTTTTTTTTTTTTTGAGACAGGGTTTCTCACTTTGTCACCCAGGATGGAGTGCAGTGGCGCAATCATAGCTCATTGCAGCCTTGAACTCCTGGGCTCAAGCCATCCTCCTGCCTCAACCTCCCAAAGTGCTGAGGTTCCAGGCATGAGCCATCCTGTCCAGCCTGAAAGATGGTTTTGAAAAGGGATTCCTCATTTCAAAACTGGCTCAAGAGTAATCCCAGCACTTTGGGAGGTTGAGCCAGGAGGCTGAGTCCAGGAGTTCAAGGTTGCAGTGAGCTGTGATTGTGCCACTGCGCTCTACCAGCCTGGGTGACACAGCGAGACTTCATCTAAATATATATATATGTACATATGCATATATATTTGGAGGGGGGAATATATAATATGTATGCCTGACAAAATTTTTGTGTGTCTGTGTTTGTTTTTGAGACAGAATCTCACTCTGTCACCCATGCTGCAGTGCAATGGTGCAGTCTCTGCTCACTGCAACCTCTGCCTCCCCGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACGACCGCGCCTGGGTAATTTTTATATTTTTAATAGAGGCGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAGGTGATCGTTCACCTCGGTCTCCCAAATTGCTTGGGATTACAGGCGTGAGCCACCCATGCCCAGCTACCTGACAAAATTTTAAGTGTATAAAGAATTAACAGGCGGCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCATTTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCGCGGTGGTGGGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAAGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGAAGTCAGCCGAGCTCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTAACAGGCAAACAGGTCTCTCTCCCCCAACCCCAGGTCTCCAGTTCCCTTCTCCCAAGATAACTACCGCTATAGGTGTTTTGTGCAACCTTCCAAAGATACAATATGCAAGAAAATCATATGATTTGTGAACACAAGCAGGCAGGTAAAGACATAATATGTAAACATGTGTGCTTATAATATGTAAATGAGGTGTACATGTGCCATGATATGCTGATGCACACAGAAACATATAATATGCAAACATAAATACCTATGTAAATATATAATATGCAAACGTAAGCGTACATGTAGCACATATGGGAACTCAAGTGTGTGTACCACAATGCAATATGCAAATGCAAGCATGCATGTAAAGACAAGCTATGCAAACACAAACACACCTGTAACATACAGCATGCAAACACGGTGAGCGTGTAGACATAGGAAAGGCAAAACCAAGCACACGTGTAAAGGGCAATACCCTTTCAACGAACACCTCACACACCTTAAACCCTTTCTACACTTACACTCTCTCTGGACAGTTGTCGGGTTGATCCAGATACCCTCCATCCATGACAAATTTCAACACCTGTTCATTAGACAGGCCTTGGTAAGGCTGTTCTGCCAAGCTGGTGATTTCCGAAAGGACCACGCCAAAGGACCTGCCGATGACAGTTGATAGTAGTAACAAAGAAGCCATTTAGACACACACACACACGCGCGCGCGCAAACACACACACGCAAACGCACACACACACGCAAACACACATGCCAACACATACATGCAAACACACACATGCAAACACACACGCACATACACGTGCACACACATGCAAATACACACAAACACGCATGCGCACACATGCACACACAAATATGCAAACACACAAACACATATACACACACAAACACACACACCCAAACACACACACGCACACACATGCAAACACACACAAACACACATATGCACACACATACACACACAAACACACACACAAACACATCTCTTGGTTTCTAGAACATGGTTAGCCACTTAATAAAACAATTCATGCTGCAGTTCATAAATGCTGTGAAAGGAAAATCAATTTGGGGCTCCCAAATCACTAAACTCAAGGAAAAAGTCCAGCTAGGAACTGCTTGGACAAACCTGCTTCCCATTCTATTCAGAGTCCCCACTCTGCTCACTGAGATACCTGCATATCTGATTGGCTCCTTTGGAGAGGCGCATCAGAAACTCAAAAGAATGCAACCATTTGTCTCTTATCTACCTACAACCTGGAAGCTCCCTCCCCACTTCGAGTTGTCTCGTCTTTCCAGACCGAACCAATGTTCATCTTATATATGTTGACTGATGTCTCATGTCTCCCTAAAATGTATAAAACCAAACTGTGCTCTGACCACCTTGGGCACCTGTCCTCAGGACCACCTGAGGCTGTGCCACGGGCACACGTCCTCAACCTTGGCAAAATAAACTTCCTAAATTAACTGAGACCTGTCTCAGATTTTCGGGGTTCACAATGCCTACAGGATTAGTCAGGACATAAGAGTAGCCGTGGGAAGATCCTAAGACAGGACGCTGCCTTCCTTTCCTTGATGGGGCGTCCAGGAGGATGGCAGGCTTCCTTCCCCCGCTCTTGGCTCTCACTAGCACCTGGAATTCAAGCCCAGCGTCCATCCACCCATCCACACACAACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCGTACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGAAGGGGGAAGATGGGCTACTGTTTAAAGGGAGGGAAAAGAAGGTACCAAATCACAAAGAAGCTACATTTTTCTTTTTTTTTTTCTTTGATATGGAGCCTCACTCTGTCCTCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCTGATTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGCTGTCTGCCACCATGTCTAGCTAATGTTTTGTATTTTGAGTAGAGACAGGGTTTCACCGTGTTGACCAGGCTGGTCTCGAACTCCTGATCTCAGGTAATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCTGGCCAGGAGATGTCTTTTTGAGTCATAAATAGAATCATATCACTTCCTGCTGCCCCTTGCTAATGTAAGATAATGTCGAGATGACTTGCTGTGACACGCAAGGTCCTTCTGGGTCTGGTTTCTGCCTCTCTCCTCATCCTCACATCTCACGCTGCTCTGGTCCCCTCTATATTCCTTTTTTATTTGTTTTTTGAAATAGCGTCTCACTGTCACCCAGGCTGGAGTGCAGTGATGCTGTCACAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTCCCACCCCAGCCTCCTGAGTAGCTGGGACCACAGG
Task1_train_26351
Here is a genetic alteration in INSR (insulin receptor) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; not provided
ATTTTAAGTGTATAAAGAATTAACAGGCGGCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCATTTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCGCGGTGGTGGGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAAGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGAAGTCAGCCGAGCTCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTAACAGGCAAACAGGTCTCTCTCCCCCAACCCCAGGTCTCCAGTTCCCTTCTCCCAAGATAACTACCGCTATAGGTGTTTTGTGCAACCTTCCAAAGATACAATATGCAAGAAAATCATATGATTTGTGAACACAAGCAGGCAGGTAAAGACATAATATGTAAACATGTGTGCTTATAATATGTAAATGAGGTGTACATGTGCCATGATATGCTGATGCACACAGAAACATATAATATGCAAACATAAATACCTATGTAAATATATAATATGCAAACGTAAGCGTACATGTAGCACATATGGGAACTCAAGTGTGTGTACCACAATGCAATATGCAAATGCAAGCATGCATGTAAAGACAAGCTATGCAAACACAAACACACCTGTAACATACAGCATGCAAACACGGTGAGCGTGTAGACATAGGAAAGGCAAAACCAAGCACACGTGTAAAGGGCAATACCCTTTCAACGAACACCTCACACACCTTAAACCCTTTCTACACTTACACTCTCTCTGGACAGTTGTCGGGTTGATCCAGATACCCTCCATCCATGACAAATTTCAACACCTGTTCATTAGACAGGCCTTGGTAAGGCTGTTCTGCCAAGCTGGTGATTTCCCAAAGGACCACGCCAAAGGACCTGCCGATGACAGTTGATAGTAGTAACAAAGAAGCCATTTAGACACACACACACACGCGCGCGCGCAAACACACACACGCAAACGCACACACACACGCAAACACACATGCCAACACATACATGCAAACACACACATGCAAACACACACGCACATACACGTGCACACACATGCAAATACACACAAACACGCATGCGCACACATGCACACACAAATATGCAAACACACAAACACATATACACACACAAACACACACACCCAAACACACACACGCACACACATGCAAACACACACAAACACACATATGCACACACATACACACACAAACACACACACAAACACATCTCTTGGTTTCTAGAACATGGTTAGCCACTTAATAAAACAATTCATGCTGCAGTTCATAAATGCTGTGAAAGGAAAATCAATTTGGGGCTCCCAAATCACTAAACTCAAGGAAAAAGTCCAGCTAGGAACTGCTTGGACAAACCTGCTTCCCATTCTATTCAGAGTCCCCACTCTGCTCACTGAGATACCTGCATATCTGATTGGCTCCTTTGGAGAGGCGCATCAGAAACTCAAAAGAATGCAACCATTTGTCTCTTATCTACCTACAACCTGGAAGCTCCCTCCCCACTTCGAGTTGTCTCGTCTTTCCAGACCGAACCAATGTTCATCTTATATATGTTGACTGATGTCTCATGTCTCCCTAAAATGTATAAAACCAAACTGTGCTCTGACCACCTTGGGCACCTGTCCTCAGGACCACCTGAGGCTGTGCCACGGGCACACGTCCTCAACCTTGGCAAAATAAACTTCCTAAATTAACTGAGACCTGTCTCAGATTTTCGGGGTTCACAATGCCTACAGGATTAGTCAGGACATAAGAGTAGCCGTGGGAAGATCCTAAGACAGGACGCTGCCTTCCTTTCCTTGATGGGGCGTCCAGGAGGATGGCAGGCTTCCTTCCCCCGCTCTTGGCTCTCACTAGCACCTGGAATTCAAGCCCAGCGTCCATCCACCCATCCACACACAACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCGTACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGAAGGGGGAAGATGGGCTACTGTTTAAAGGGAGGGAAAAGAAGGTACCAAATCACAAAGAAGCTACATTTTTCTTTTTTTTTTTCTTTGATATGGAGCCTCACTCTGTCCTCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCTGATTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGCTGTCTGCCACCATGTCTAGCTAATGTTTTGTATTTTGAGTAGAGACAGGGTTTCACCGTGTTGACCAGGCTGGTCTCGAACTCCTGATCTCAGGTAATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCTGGCCAGGAGATGTCTTTTTGAGTCATAAATAGAATCATATCACTTCCTGCTGCCCCTTGCTAATGTAAGATAATGTCGAGATGACTTGCTGTGACACGCAAGGTCCTTCTGGGTCTGGTTTCTGCCTCTCTCCTCATCCTCACATCTCACGCTGCTCTGGTCCCCTCTATATTCCTTTTTTATTTGTTTTTTGAAATAGCGTCTCACTGTCACCCAGGCTGGAGTGCAGTGATGCTGTCACAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTCCCACCCCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCACCACCACACCCCACTTTTTAAAAAATCTTTTCAAGGAGATGGAGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGACTCAAGCAGTCTTTACACATTGGACTTCCAAAGCACTGAGATTACAGGCGGGACCCCCGGTCCTACAAACATATCTTTTAAAGAAGTGAATGGGTAAGTGAGTTTATCAATACATGCAATTAAATGACAGCTGGTGGGGGGTCCCCATCCAAAATCTTGCCCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCCAACACAGGTGGATCATATGAGGTCAGGAGTTTGAGACCATCTTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCGCACGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAAGAGGTGGAGGTTCAGTGAGCCGAGATCCTGTCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATGTCAGAAAAAAGAAAAAAAAAAAAAGCCGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACGAGGTCAGGAGATCAAGACTATCCTGGCCAACATGGATGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGTGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGACAGAGTAAGACTCCGTCTCAAAAACAAAAAGACAAAACAAAACAAAAAAAACCCCACAAAAAAAAAAGAAGTATCTTGCCCCTTTATATTATCAGAAAAGACTTAACGGCTCATTATAGACAACTTCCTTCTGAAATCAAACCTGGCCTGGGTCGTTATGTTTTCAAAGCAGAAAGCCAGACGAACCTCCAATTTTGACAGTAAAATCATGGGCGACCATGCAGTTTCTCGCTGCCAGGTCCCGATGCACAAACTTCTTGGCGTTCAGGTAGGCCATCCCGTCAGCAATCTCTGCCG
ATTTTAAGTGTATAAAGAATTAACAGGCGGCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCATTTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCGCGGTGGTGGGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAAGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGAAGTCAGCCGAGCTCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTAACAGGCAAACAGGTCTCTCTCCCCCAACCCCAGGTCTCCAGTTCCCTTCTCCCAAGATAACTACCGCTATAGGTGTTTTGTGCAACCTTCCAAAGATACAATATGCAAGAAAATCATATGATTTGTGAACACAAGCAGGCAGGTAAAGACATAATATGTAAACATGTGTGCTTATAATATGTAAATGAGGTGTACATGTGCCATGATATGCTGATGCACACAGAAACATATAATATGCAAACATAAATACCTATGTAAATATATAATATGCAAACGTAAGCGTACATGTAGCACATATGGGAACTCAAGTGTGTGTACCACAATGCAATATGCAAATGCAAGCATGCATGTAAAGACAAGCTATGCAAACACAAACACACCTGTAACATACAGCATGCAAACACGGTGAGCGTGTAGACATAGGAAAGGCAAAACCAAGCACACGTGTAAAGGGCAATACCCTTTCAACGAACACCTCACACACCTTAAACCCTTTCTACACTTACACTCTCTCTGGACAGTTGTCGGGTTGATCCAGATACCCTCCATCCATGACAAATTTCAACACCTGTTCATTAGACAGGCCTTGGTAAGGCTGTTCTGCCAAGCTGGTGATTTCCCAAAGGACCACGCCAAAGGACCTGCCGATGACAGTTGATAGTAGTAACAAAGAAGCCATTTAGACACACACACACACGCGCGCGCGCAAACACACACACGCAAACGCACACACACACGCAAACACACATGCCAACACATACATGCAAACACACACATGCAAACACACACGCACATACACGTGCACACACATGCAAATACACACAAACACGCATGCGCACACATGCACACACAAATATGCAAACACACAAACACATATACACACACAAACACACACACCCAAACACACACACGCACACACATGCAAACACACACAAACACACATATGCACACACATACACACACAAACACACACACAAACACATCTCTTGGTTTCTAGAACATGGTTAGCCACTTAATAAAACAATTCATGCTGCAGTTCATAAATGCTGTGAAAGGAAAATCAATTTGGGGCTCCCAAATCACTAAACTCAAGGAAAAAGTCCAGCTAGGAACTGCTTGGACAAACCTGCTTCCCATTCTATTCAGAGTCCCCACTCTGCTCACTGAGATACCTGCATATCTGATTGGCTCCTTTGGAGAGGCGCATCAGAAACTCAAAAGAATGCAACCATTTGTCTCTTATCTACCTACAACCTGGAAGCTCCCTCCCCACTTCGAGTTGTCTCGTCTTTCCAGACCGAACCAATGTTCATCTTATATATGTTGACTGATGTCTCATGTCTCCCTAAAATGTATAAAACCAAACTGTGCTCTGACCACCTTGGGCACCTGTCCTCAGGACCACCTGAGGCTGTGCCACGGGCACACGTCCTCAACCTTGGCAAAATAAACTTCCTAAATTAACTGAGACCTGTCTCAGATTTTCGGGGTTCACAATGCCTACAGGATTAGTCAGGACATAAGAGTAGCCGTGGGAAGATCCTAAGACAGGACGCTGCCTTCCTTTCCTTGATGGGGCGTCCAGGAGGATGGCAGGCTTCCTTCCCCCGCTCTTGGCTCTCACTAGCACCTGGAATTCAAGCCCAGCGTCCATCCACCCATCCACACACAACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACTGTACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGAAGGGGGAAGATGGGCTACTGTTTAAAGGGAGGGAAAAGAAGGTACCAAATCACAAAGAAGCTACATTTTTCTTTTTTTTTTTCTTTGATATGGAGCCTCACTCTGTCCTCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCTGATTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGCTGTCTGCCACCATGTCTAGCTAATGTTTTGTATTTTGAGTAGAGACAGGGTTTCACCGTGTTGACCAGGCTGGTCTCGAACTCCTGATCTCAGGTAATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCTGGCCAGGAGATGTCTTTTTGAGTCATAAATAGAATCATATCACTTCCTGCTGCCCCTTGCTAATGTAAGATAATGTCGAGATGACTTGCTGTGACACGCAAGGTCCTTCTGGGTCTGGTTTCTGCCTCTCTCCTCATCCTCACATCTCACGCTGCTCTGGTCCCCTCTATATTCCTTTTTTATTTGTTTTTTGAAATAGCGTCTCACTGTCACCCAGGCTGGAGTGCAGTGATGCTGTCACAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTCCCACCCCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCACCACCACACCCCACTTTTTAAAAAATCTTTTCAAGGAGATGGAGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGACTCAAGCAGTCTTTACACATTGGACTTCCAAAGCACTGAGATTACAGGCGGGACCCCCGGTCCTACAAACATATCTTTTAAAGAAGTGAATGGGTAAGTGAGTTTATCAATACATGCAATTAAATGACAGCTGGTGGGGGGTCCCCATCCAAAATCTTGCCCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCCAACACAGGTGGATCATATGAGGTCAGGAGTTTGAGACCATCTTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCGCACGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAAGAGGTGGAGGTTCAGTGAGCCGAGATCCTGTCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATGTCAGAAAAAAGAAAAAAAAAAAAAGCCGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACGAGGTCAGGAGATCAAGACTATCCTGGCCAACATGGATGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGTGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGACAGAGTAAGACTCCGTCTCAAAAACAAAAAGACAAAACAAAACAAAAAAAACCCCACAAAAAAAAAAGAAGTATCTTGCCCCTTTATATTATCAGAAAAGACTTAACGGCTCATTATAGACAACTTCCTTCTGAAATCAAACCTGGCCTGGGTCGTTATGTTTTCAAAGCAGAAAGCCAGACGAACCTCCAATTTTGACAGTAAAATCATGGGCGACCATGCAGTTTCTCGCTGCCAGGTCCCGATGCACAAACTTCTTGGCGTTCAGGTAGGCCATCCCGTCAGCAATCTCTGCCG
Task1_train_26352
The gene INSR (insulin receptor) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Insulin resistance
TTTTAAGTGTATAAAGAATTAACAGGCGGCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCATTTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCGCGGTGGTGGGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAAGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGAAGTCAGCCGAGCTCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTAACAGGCAAACAGGTCTCTCTCCCCCAACCCCAGGTCTCCAGTTCCCTTCTCCCAAGATAACTACCGCTATAGGTGTTTTGTGCAACCTTCCAAAGATACAATATGCAAGAAAATCATATGATTTGTGAACACAAGCAGGCAGGTAAAGACATAATATGTAAACATGTGTGCTTATAATATGTAAATGAGGTGTACATGTGCCATGATATGCTGATGCACACAGAAACATATAATATGCAAACATAAATACCTATGTAAATATATAATATGCAAACGTAAGCGTACATGTAGCACATATGGGAACTCAAGTGTGTGTACCACAATGCAATATGCAAATGCAAGCATGCATGTAAAGACAAGCTATGCAAACACAAACACACCTGTAACATACAGCATGCAAACACGGTGAGCGTGTAGACATAGGAAAGGCAAAACCAAGCACACGTGTAAAGGGCAATACCCTTTCAACGAACACCTCACACACCTTAAACCCTTTCTACACTTACACTCTCTCTGGACAGTTGTCGGGTTGATCCAGATACCCTCCATCCATGACAAATTTCAACACCTGTTCATTAGACAGGCCTTGGTAAGGCTGTTCTGCCAAGCTGGTGATTTCCCAAAGGACCACGCCAAAGGACCTGCCGATGACAGTTGATAGTAGTAACAAAGAAGCCATTTAGACACACACACACACGCGCGCGCGCAAACACACACACGCAAACGCACACACACACGCAAACACACATGCCAACACATACATGCAAACACACACATGCAAACACACACGCACATACACGTGCACACACATGCAAATACACACAAACACGCATGCGCACACATGCACACACAAATATGCAAACACACAAACACATATACACACACAAACACACACACCCAAACACACACACGCACACACATGCAAACACACACAAACACACATATGCACACACATACACACACAAACACACACACAAACACATCTCTTGGTTTCTAGAACATGGTTAGCCACTTAATAAAACAATTCATGCTGCAGTTCATAAATGCTGTGAAAGGAAAATCAATTTGGGGCTCCCAAATCACTAAACTCAAGGAAAAAGTCCAGCTAGGAACTGCTTGGACAAACCTGCTTCCCATTCTATTCAGAGTCCCCACTCTGCTCACTGAGATACCTGCATATCTGATTGGCTCCTTTGGAGAGGCGCATCAGAAACTCAAAAGAATGCAACCATTTGTCTCTTATCTACCTACAACCTGGAAGCTCCCTCCCCACTTCGAGTTGTCTCGTCTTTCCAGACCGAACCAATGTTCATCTTATATATGTTGACTGATGTCTCATGTCTCCCTAAAATGTATAAAACCAAACTGTGCTCTGACCACCTTGGGCACCTGTCCTCAGGACCACCTGAGGCTGTGCCACGGGCACACGTCCTCAACCTTGGCAAAATAAACTTCCTAAATTAACTGAGACCTGTCTCAGATTTTCGGGGTTCACAATGCCTACAGGATTAGTCAGGACATAAGAGTAGCCGTGGGAAGATCCTAAGACAGGACGCTGCCTTCCTTTCCTTGATGGGGCGTCCAGGAGGATGGCAGGCTTCCTTCCCCCGCTCTTGGCTCTCACTAGCACCTGGAATTCAAGCCCAGCGTCCATCCACCCATCCACACACAACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCGTACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGAAGGGGGAAGATGGGCTACTGTTTAAAGGGAGGGAAAAGAAGGTACCAAATCACAAAGAAGCTACATTTTTCTTTTTTTTTTTCTTTGATATGGAGCCTCACTCTGTCCTCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCTGATTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGCTGTCTGCCACCATGTCTAGCTAATGTTTTGTATTTTGAGTAGAGACAGGGTTTCACCGTGTTGACCAGGCTGGTCTCGAACTCCTGATCTCAGGTAATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCTGGCCAGGAGATGTCTTTTTGAGTCATAAATAGAATCATATCACTTCCTGCTGCCCCTTGCTAATGTAAGATAATGTCGAGATGACTTGCTGTGACACGCAAGGTCCTTCTGGGTCTGGTTTCTGCCTCTCTCCTCATCCTCACATCTCACGCTGCTCTGGTCCCCTCTATATTCCTTTTTTATTTGTTTTTTGAAATAGCGTCTCACTGTCACCCAGGCTGGAGTGCAGTGATGCTGTCACAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTCCCACCCCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCACCACCACACCCCACTTTTTAAAAAATCTTTTCAAGGAGATGGAGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGACTCAAGCAGTCTTTACACATTGGACTTCCAAAGCACTGAGATTACAGGCGGGACCCCCGGTCCTACAAACATATCTTTTAAAGAAGTGAATGGGTAAGTGAGTTTATCAATACATGCAATTAAATGACAGCTGGTGGGGGGTCCCCATCCAAAATCTTGCCCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCCAACACAGGTGGATCATATGAGGTCAGGAGTTTGAGACCATCTTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCGCACGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAAGAGGTGGAGGTTCAGTGAGCCGAGATCCTGTCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATGTCAGAAAAAAGAAAAAAAAAAAAAGCCGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACGAGGTCAGGAGATCAAGACTATCCTGGCCAACATGGATGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGTGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGACAGAGTAAGACTCCGTCTCAAAAACAAAAAGACAAAACAAAACAAAAAAAACCCCACAAAAAAAAAAGAAGTATCTTGCCCCTTTATATTATCAGAAAAGACTTAACGGCTCATTATAGACAACTTCCTTCTGAAATCAAACCTGGCCTGGGTCGTTATGTTTTCAAAGCAGAAAGCCAGACGAACCTCCAATTTTGACAGTAAAATCATGGGCGACCATGCAGTTTCTCGCTGCCAGGTCCCGATGCACAAACTTCTTGGCGTTCAGGTAGGCCATCCCGTCAGCAATCTCTGCCGC
TTTTAAGTGTATAAAGAATTAACAGGCGGCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCATTTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCGCGGTGGTGGGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAAGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGAAGTCAGCCGAGCTCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTAACAGGCAAACAGGTCTCTCTCCCCCAACCCCAGGTCTCCAGTTCCCTTCTCCCAAGATAACTACCGCTATAGGTGTTTTGTGCAACCTTCCAAAGATACAATATGCAAGAAAATCATATGATTTGTGAACACAAGCAGGCAGGTAAAGACATAATATGTAAACATGTGTGCTTATAATATGTAAATGAGGTGTACATGTGCCATGATATGCTGATGCACACAGAAACATATAATATGCAAACATAAATACCTATGTAAATATATAATATGCAAACGTAAGCGTACATGTAGCACATATGGGAACTCAAGTGTGTGTACCACAATGCAATATGCAAATGCAAGCATGCATGTAAAGACAAGCTATGCAAACACAAACACACCTGTAACATACAGCATGCAAACACGGTGAGCGTGTAGACATAGGAAAGGCAAAACCAAGCACACGTGTAAAGGGCAATACCCTTTCAACGAACACCTCACACACCTTAAACCCTTTCTACACTTACACTCTCTCTGGACAGTTGTCGGGTTGATCCAGATACCCTCCATCCATGACAAATTTCAACACCTGTTCATTAGACAGGCCTTGGTAAGGCTGTTCTGCCAAGCTGGTGATTTCCCAAAGGACCACGCCAAAGGACCTGCCGATGACAGTTGATAGTAGTAACAAAGAAGCCATTTAGACACACACACACACGCGCGCGCGCAAACACACACACGCAAACGCACACACACACGCAAACACACATGCCAACACATACATGCAAACACACACATGCAAACACACACGCACATACACGTGCACACACATGCAAATACACACAAACACGCATGCGCACACATGCACACACAAATATGCAAACACACAAACACATATACACACACAAACACACACACCCAAACACACACACGCACACACATGCAAACACACACAAACACACATATGCACACACATACACACACAAACACACACACAAACACATCTCTTGGTTTCTAGAACATGGTTAGCCACTTAATAAAACAATTCATGCTGCAGTTCATAAATGCTGTGAAAGGAAAATCAATTTGGGGCTCCCAAATCACTAAACTCAAGGAAAAAGTCCAGCTAGGAACTGCTTGGACAAACCTGCTTCCCATTCTATTCAGAGTCCCCACTCTGCTCACTGAGATACCTGCATATCTGATTGGCTCCTTTGGAGAGGCGCATCAGAAACTCAAAAGAATGCAACCATTTGTCTCTTATCTACCTACAACCTGGAAGCTCCCTCCCCACTTCGAGTTGTCTCGTCTTTCCAGACCGAACCAATGTTCATCTTATATATGTTGACTGATGTCTCATGTCTCCCTAAAATGTATAAAACCAAACTGTGCTCTGACCACCTTGGGCACCTGTCCTCAGGACCACCTGAGGCTGTGCCACGGGCACACGTCCTCAACCTTGGCAAAATAAACTTCCTAAATTAACTGAGACCTGTCTCAGATTTTCGGGGTTCACAATGCCTACAGGATTAGTCAGGACATAAGAGTAGCCGTGGGAAGATCCTAAGACAGGACGCTGCCTTCCTTTCCTTGATGGGGCGTCCAGGAGGATGGCAGGCTTCCTTCCCCCGCTCTTGGCTCTCACTAGCACCTGGAATTCAAGCCCAGCGTCCATCCACCCATCCACACACAACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCATACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGAAGGGGGAAGATGGGCTACTGTTTAAAGGGAGGGAAAAGAAGGTACCAAATCACAAAGAAGCTACATTTTTCTTTTTTTTTTTCTTTGATATGGAGCCTCACTCTGTCCTCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCTGATTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGCTGTCTGCCACCATGTCTAGCTAATGTTTTGTATTTTGAGTAGAGACAGGGTTTCACCGTGTTGACCAGGCTGGTCTCGAACTCCTGATCTCAGGTAATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCTGGCCAGGAGATGTCTTTTTGAGTCATAAATAGAATCATATCACTTCCTGCTGCCCCTTGCTAATGTAAGATAATGTCGAGATGACTTGCTGTGACACGCAAGGTCCTTCTGGGTCTGGTTTCTGCCTCTCTCCTCATCCTCACATCTCACGCTGCTCTGGTCCCCTCTATATTCCTTTTTTATTTGTTTTTTGAAATAGCGTCTCACTGTCACCCAGGCTGGAGTGCAGTGATGCTGTCACAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTCCCACCCCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCACCACCACACCCCACTTTTTAAAAAATCTTTTCAAGGAGATGGAGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGACTCAAGCAGTCTTTACACATTGGACTTCCAAAGCACTGAGATTACAGGCGGGACCCCCGGTCCTACAAACATATCTTTTAAAGAAGTGAATGGGTAAGTGAGTTTATCAATACATGCAATTAAATGACAGCTGGTGGGGGGTCCCCATCCAAAATCTTGCCCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCCAACACAGGTGGATCATATGAGGTCAGGAGTTTGAGACCATCTTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCGCACGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAAGAGGTGGAGGTTCAGTGAGCCGAGATCCTGTCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATGTCAGAAAAAAGAAAAAAAAAAAAAGCCGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACGAGGTCAGGAGATCAAGACTATCCTGGCCAACATGGATGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGTGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGACAGAGTAAGACTCCGTCTCAAAAACAAAAAGACAAAACAAAACAAAAAAAACCCCACAAAAAAAAAAGAAGTATCTTGCCCCTTTATATTATCAGAAAAGACTTAACGGCTCATTATAGACAACTTCCTTCTGAAATCAAACCTGGCCTGGGTCGTTATGTTTTCAAAGCAGAAAGCCAGACGAACCTCCAATTTTGACAGTAAAATCATGGGCGACCATGCAGTTTCTCGCTGCCAGGTCCCGATGCACAAACTTCTTGGCGTTCAGGTAGGCCATCCCGTCAGCAATCTCTGCCGC
Task1_train_26353
Consider this mutation in INSR (insulin receptor) on Chromosome 19. Is this a benign change or a disease-causing variant?
Pathogenic; Type 2 diabetes mellitus
CTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCATTTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCGCGGTGGTGGGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAAGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGAAGTCAGCCGAGCTCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTAACAGGCAAACAGGTCTCTCTCCCCCAACCCCAGGTCTCCAGTTCCCTTCTCCCAAGATAACTACCGCTATAGGTGTTTTGTGCAACCTTCCAAAGATACAATATGCAAGAAAATCATATGATTTGTGAACACAAGCAGGCAGGTAAAGACATAATATGTAAACATGTGTGCTTATAATATGTAAATGAGGTGTACATGTGCCATGATATGCTGATGCACACAGAAACATATAATATGCAAACATAAATACCTATGTAAATATATAATATGCAAACGTAAGCGTACATGTAGCACATATGGGAACTCAAGTGTGTGTACCACAATGCAATATGCAAATGCAAGCATGCATGTAAAGACAAGCTATGCAAACACAAACACACCTGTAACATACAGCATGCAAACACGGTGAGCGTGTAGACATAGGAAAGGCAAAACCAAGCACACGTGTAAAGGGCAATACCCTTTCAACGAACACCTCACACACCTTAAACCCTTTCTACACTTACACTCTCTCTGGACAGTTGTCGGGTTGATCCAGATACCCTCCATCCATGACAAATTTCAACACCTGTTCATTAGACAGGCCTTGGTAAGGCTGTTCTGCCAAGCTGGTGATTTCCCAAAGGACCACGCCAAAGGACCTGCCGATGACAGTTGATAGTAGTAACAAAGAAGCCATTTAGACACACACACACACGCGCGCGCGCAAACACACACACGCAAACGCACACACACACGCAAACACACATGCCAACACATACATGCAAACACACACATGCAAACACACACGCACATACACGTGCACACACATGCAAATACACACAAACACGCATGCGCACACATGCACACACAAATATGCAAACACACAAACACATATACACACACAAACACACACACCCAAACACACACACGCACACACATGCAAACACACACAAACACACATATGCACACACATACACACACAAACACACACACAAACACATCTCTTGGTTTCTAGAACATGGTTAGCCACTTAATAAAACAATTCATGCTGCAGTTCATAAATGCTGTGAAAGGAAAATCAATTTGGGGCTCCCAAATCACTAAACTCAAGGAAAAAGTCCAGCTAGGAACTGCTTGGACAAACCTGCTTCCCATTCTATTCAGAGTCCCCACTCTGCTCACTGAGATACCTGCATATCTGATTGGCTCCTTTGGAGAGGCGCATCAGAAACTCAAAAGAATGCAACCATTTGTCTCTTATCTACCTACAACCTGGAAGCTCCCTCCCCACTTCGAGTTGTCTCGTCTTTCCAGACCGAACCAATGTTCATCTTATATATGTTGACTGATGTCTCATGTCTCCCTAAAATGTATAAAACCAAACTGTGCTCTGACCACCTTGGGCACCTGTCCTCAGGACCACCTGAGGCTGTGCCACGGGCACACGTCCTCAACCTTGGCAAAATAAACTTCCTAAATTAACTGAGACCTGTCTCAGATTTTCGGGGTTCACAATGCCTACAGGATTAGTCAGGACATAAGAGTAGCCGTGGGAAGATCCTAAGACAGGACGCTGCCTTCCTTTCCTTGATGGGGCGTCCAGGAGGATGGCAGGCTTCCTTCCCCCGCTCTTGGCTCTCACTAGCACCTGGAATTCAAGCCCAGCGTCCATCCACCCATCCACACACAACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCGTACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGAAGGGGGAAGATGGGCTACTGTTTAAAGGGAGGGAAAAGAAGGTACCAAATCACAAAGAAGCTACATTTTTCTTTTTTTTTTTCTTTGATATGGAGCCTCACTCTGTCCTCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCTGATTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGCTGTCTGCCACCATGTCTAGCTAATGTTTTGTATTTTGAGTAGAGACAGGGTTTCACCGTGTTGACCAGGCTGGTCTCGAACTCCTGATCTCAGGTAATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCTGGCCAGGAGATGTCTTTTTGAGTCATAAATAGAATCATATCACTTCCTGCTGCCCCTTGCTAATGTAAGATAATGTCGAGATGACTTGCTGTGACACGCAAGGTCCTTCTGGGTCTGGTTTCTGCCTCTCTCCTCATCCTCACATCTCACGCTGCTCTGGTCCCCTCTATATTCCTTTTTTATTTGTTTTTTGAAATAGCGTCTCACTGTCACCCAGGCTGGAGTGCAGTGATGCTGTCACAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTCCCACCCCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCACCACCACACCCCACTTTTTAAAAAATCTTTTCAAGGAGATGGAGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGACTCAAGCAGTCTTTACACATTGGACTTCCAAAGCACTGAGATTACAGGCGGGACCCCCGGTCCTACAAACATATCTTTTAAAGAAGTGAATGGGTAAGTGAGTTTATCAATACATGCAATTAAATGACAGCTGGTGGGGGGTCCCCATCCAAAATCTTGCCCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCCAACACAGGTGGATCATATGAGGTCAGGAGTTTGAGACCATCTTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCGCACGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAAGAGGTGGAGGTTCAGTGAGCCGAGATCCTGTCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATGTCAGAAAAAAGAAAAAAAAAAAAAGCCGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACGAGGTCAGGAGATCAAGACTATCCTGGCCAACATGGATGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGTGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGACAGAGTAAGACTCCGTCTCAAAAACAAAAAGACAAAACAAAACAAAAAAAACCCCACAAAAAAAAAAGAAGTATCTTGCCCCTTTATATTATCAGAAAAGACTTAACGGCTCATTATAGACAACTTCCTTCTGAAATCAAACCTGGCCTGGGTCGTTATGTTTTCAAAGCAGAAAGCCAGACGAACCTCCAATTTTGACAGTAAAATCATGGGCGACCATGCAGTTTCTCGCTGCCAGGTCCCGATGCACAAACTTCTTGGCGTTCAGGTAGGCCATCCCGTCAGCAATCTCTGCCGCCATCTGAATCATCTCTTGAAGGGTAGGGG
CTGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCATTTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCGCGGTGGTGGGTGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAAGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGAAGTCAGCCGAGCTCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTAACAGGCAAACAGGTCTCTCTCCCCCAACCCCAGGTCTCCAGTTCCCTTCTCCCAAGATAACTACCGCTATAGGTGTTTTGTGCAACCTTCCAAAGATACAATATGCAAGAAAATCATATGATTTGTGAACACAAGCAGGCAGGTAAAGACATAATATGTAAACATGTGTGCTTATAATATGTAAATGAGGTGTACATGTGCCATGATATGCTGATGCACACAGAAACATATAATATGCAAACATAAATACCTATGTAAATATATAATATGCAAACGTAAGCGTACATGTAGCACATATGGGAACTCAAGTGTGTGTACCACAATGCAATATGCAAATGCAAGCATGCATGTAAAGACAAGCTATGCAAACACAAACACACCTGTAACATACAGCATGCAAACACGGTGAGCGTGTAGACATAGGAAAGGCAAAACCAAGCACACGTGTAAAGGGCAATACCCTTTCAACGAACACCTCACACACCTTAAACCCTTTCTACACTTACACTCTCTCTGGACAGTTGTCGGGTTGATCCAGATACCCTCCATCCATGACAAATTTCAACACCTGTTCATTAGACAGGCCTTGGTAAGGCTGTTCTGCCAAGCTGGTGATTTCCCAAAGGACCACGCCAAAGGACCTGCCGATGACAGTTGATAGTAGTAACAAAGAAGCCATTTAGACACACACACACACGCGCGCGCGCAAACACACACACGCAAACGCACACACACACGCAAACACACATGCCAACACATACATGCAAACACACACATGCAAACACACACGCACATACACGTGCACACACATGCAAATACACACAAACACGCATGCGCACACATGCACACACAAATATGCAAACACACAAACACATATACACACACAAACACACACACCCAAACACACACACGCACACACATGCAAACACACACAAACACACATATGCACACACATACACACACAAACACACACACAAACACATCTCTTGGTTTCTAGAACATGGTTAGCCACTTAATAAAACAATTCATGCTGCAGTTCATAAATGCTGTGAAAGGAAAATCAATTTGGGGCTCCCAAATCACTAAACTCAAGGAAAAAGTCCAGCTAGGAACTGCTTGGACAAACCTGCTTCCCATTCTATTCAGAGTCCCCACTCTGCTCACTGAGATACCTGCATATCTGATTGGCTCCTTTGGAGAGGCGCATCAGAAACTCAAAAGAATGCAACCATTTGTCTCTTATCTACCTACAACCTGGAAGCTCCCTCCCCACTTCGAGTTGTCTCGTCTTTCCAGACCGAACCAATGTTCATCTTATATATGTTGACTGATGTCTCATGTCTCCCTAAAATGTATAAAACCAAACTGTGCTCTGACCACCTTGGGCACCTGTCCTCAGGACCACCTGAGGCTGTGCCACGGGCACACGTCCTCAACCTTGGCAAAATAAACTTCCTAAATTAACTGAGACCTGTCTCAGATTTTCGGGGTTCACAATGCCTACAGGATTAGTCAGGACATAAGAGTAGCCGTGGGAAGATCCTAAGACAGGACGCTGCCTTCCTTTCCTTGATGGGGCGTCCAGGAGGATGGCAGGCTTCCTTCCCCCGCTCTTGGCTCTCACTAGCACCTGGAATTCAAGCCCAGCGTCCATCCACCCATCCACACACAACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCGTACAGGGAGCAGACCCTTGCCCCCTTTCTGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGAAGGGGGAAGATGGGCTACTGTTTAAAGGGAGGGAAAAGAAGGTACCAAATCACAAAGAAGCTACATTTTTCTTTTTTTTTTTCTTTGATATGGAGCCTCACTCTGTCCTCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCTGATTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGCTGTCTGCCACCATGTCTAGCTAATGTTTTGTATTTTGAGTAGAGACAGGGTTTCACCGTGTTGACCAGGCTGGTCTCGAACTCCTGATCTCAGGTAATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCTGGCCAGGAGATGTCTTTTTGAGTCATAAATAGAATCATATCACTTCCTGCTGCCCCTTGCTAATGTAAGATAATGTCGAGATGACTTGCTGTGACACGCAAGGTCCTTCTGGGTCTGGTTTCTGCCTCTCTCCTCATCCTCACATCTCACGCTGCTCTGGTCCCCTCTATATTCCTTTTTTATTTGTTTTTTGAAATAGCGTCTCACTGTCACCCAGGCTGGAGTGCAGTGATGCTGTCACAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTCCCACCCCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCACCACCACACCCCACTTTTTAAAAAATCTTTTCAAGGAGATGGAGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGACTCAAGCAGTCTTTACACATTGGACTTCCAAAGCACTGAGATTACAGGCGGGACCCCCGGTCCTACAAACATATCTTTTAAAGAAGTGAATGGGTAAGTGAGTTTATCAATACATGCAATTAAATGACAGCTGGTGGGGGGTCCCCATCCAAAATCTTGCCCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCCAACACAGGTGGATCATATGAGGTCAGGAGTTTGAGACCATCTTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCGCACGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAAGAGGTGGAGGTTCAGTGAGCCGAGATCCTGTCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATGTCAGAAAAAAGAAAAAAAAAAAAAGCCGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACGAGGTCAGGAGATCAAGACTATCCTGGCCAACATGGATGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGTGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGACAGAGTAAGACTCCGTCTCAAAAACAAAAAGACAAAACAAAACAAAAAAAACCCCACAAAAAAAAAAGAAGTATCTTGCCCCTTTATATTATCAGAAAAGACTTAACGGCTCATTATAGACAACTTCCTTCTGAAATCAAACCTGGCCTGGGTCGTTATGTTTTCAAAGCAGAAAGCCAGACGAACCTCCAATTTTGACAGTAAAATCATGGGCGACCATGCAGTTTCTCGCTGCCAGGTCCCGATGCACAAACTTCTTGGCGTTCAGGTAGGCCATCCCGTCAGCAATCTCTGCCGCCATCTGAATCATCTCTTGAAGGGTAGGGG
Task1_train_26354
Mutation context: Chromosome 19, Gene INSR (insulin receptor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Insulin-resistant diabetes mellitus AND acanthosis nigricans
CACAACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCGTACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGAAGGGGGAAGATGGGCTACTGTTTAAAGGGAGGGAAAAGAAGGTACCAAATCACAAAGAAGCTACATTTTTCTTTTTTTTTTTCTTTGATATGGAGCCTCACTCTGTCCTCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCTGATTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGCTGTCTGCCACCATGTCTAGCTAATGTTTTGTATTTTGAGTAGAGACAGGGTTTCACCGTGTTGACCAGGCTGGTCTCGAACTCCTGATCTCAGGTAATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCTGGCCAGGAGATGTCTTTTTGAGTCATAAATAGAATCATATCACTTCCTGCTGCCCCTTGCTAATGTAAGATAATGTCGAGATGACTTGCTGTGACACGCAAGGTCCTTCTGGGTCTGGTTTCTGCCTCTCTCCTCATCCTCACATCTCACGCTGCTCTGGTCCCCTCTATATTCCTTTTTTATTTGTTTTTTGAAATAGCGTCTCACTGTCACCCAGGCTGGAGTGCAGTGATGCTGTCACAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTCCCACCCCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCACCACCACACCCCACTTTTTAAAAAATCTTTTCAAGGAGATGGAGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGACTCAAGCAGTCTTTACACATTGGACTTCCAAAGCACTGAGATTACAGGCGGGACCCCCGGTCCTACAAACATATCTTTTAAAGAAGTGAATGGGTAAGTGAGTTTATCAATACATGCAATTAAATGACAGCTGGTGGGGGGTCCCCATCCAAAATCTTGCCCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCCAACACAGGTGGATCATATGAGGTCAGGAGTTTGAGACCATCTTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCGCACGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAAGAGGTGGAGGTTCAGTGAGCCGAGATCCTGTCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATGTCAGAAAAAAGAAAAAAAAAAAAAGCCGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACGAGGTCAGGAGATCAAGACTATCCTGGCCAACATGGATGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGTGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGACAGAGTAAGACTCCGTCTCAAAAACAAAAAGACAAAACAAAACAAAAAAAACCCCACAAAAAAAAAAGAAGTATCTTGCCCCTTTATATTATCAGAAAAGACTTAACGGCTCATTATAGACAACTTCCTTCTGAAATCAAACCTGGCCTGGGTCGTTATGTTTTCAAAGCAGAAAGCCAGACGAACCTCCAATTTTGACAGTAAAATCATGGGCGACCATGCAGTTTCTCGCTGCCAGGTCCCGATGCACAAACTTCTTGGCGTTCAGGTAGGCCATCCCGTCAGCAATCTCTGCCGCCATCTGAATCATCTCTTGAAGGGTAGGGGGAGGGCGGCCAGGATTATTCTAAAACAGAAACACGGGGTTGGTGTTTCAGCAGCACTGGGATCCGAGGAGGCCAGGAGCGGGTGCTCCACCGAGTACCCCGCTGGGTCCCCCGAAGCAGCTTACCTCAGCCTCTGGCCGCAGAGAACGGAGGTAGCTCTTCAGGTCTCCGTGAGCCATCAGCTCCATCACCACCAGCGTGGGCTGGCCCTTGGACACCACTCCCAGGAGGCGCACCTGCAGAGCAAGCAACCAGGGTTCTTGGAGGAGGGTCCGTGATTCGACTCACCAGGGTTCTCCTCCCTCCCTGGTGTCTATGTCACACACAGCACCCTGTGGCCTGGATGCAGCGTGCTCAGCCCTGGTCTAGGAGAGCAGACATACCTGCCCGGACAGCAGACAGATAGGCCTTTGTATTTTTTTTTTTTTAATTTTCGAGACGGAATCTTGCTGTTACCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGGTTACAGGTGCCCGCCTCCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCTGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGCCACTGCACCCAGCCAGGCCTTTGTATTTTAATCATTCCCTCTGCCTGGCTCTCTGTTCCCTGCCACATCCACAGGGCCCAGCTCCTCATGTCCTCTAAGTCTTTGCTCAAATACACCCCTGTCCAACCCTCCTTTCCTCCCTTTCTTCATGTTTCCATAGCATTTGCTCCTAATGTATAAAGGGTTTGGAGTCAGCTGGGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGTGGATCACCTGAATTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCTCCTGTTATCCCAGCTACTCAGGAGGCCGCGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTCTGGGCGACAGAGAGAGACTCTGTCTTAAAAATATATAAAAATAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTGAAAATACAAAAAAATTAGCCAGGCACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTAATAAAAAAAAGTATAAAAAGCATTAGCTGGGCGTGGTGGCAGGCACCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCTTGAATCCAGCAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAACAATCAGCCAGGCGTGGTAGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGTGTGAATCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGCACAACAAAGCGAGACTCCGTTTCAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATATATGAAATAAAATAAAAATAAAGGTTTTGGAGTCTGTCTCCGCCTGCTGTTTTGGAAGCTCTACAGGGGC
CACAACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCGTACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGAAGGGGGAAGATGGGCTACTGTTTAAAGGGAGGGAAAAGAAGGTACCAAATCACAAAGAAGCTACATTTTTCTTTTTTTTTTTCTTTGATATGGAGCCTCACTCTGTCCTCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCTGATTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGCTGTCTGCCACCATGTCTAGCTAATGTTTTGTATTTTGAGTAGAGACAGGGTTTCACCGTGTTGACCAGGCTGGTCTCGAACTCCTGATCTCAGGTAATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCTGGCCAGGAGATGTCTTTTTGAGTCATAAATAGAATCATATCACTTCCTGCTGCCCCTTGCTAATGTAAGATAATGTCGAGATGACTTGCTGTGACACGCAAGGTCCTTCTGGGTCTGGTTTCTGCCTCTCTCCTCATCCTCACATCTCACGCTGCTCTGGTCCCCTCTATATTCCTTTTTTATTTGTTTTTTGAAATAGCGTCTCACTGTCACCCAGGCTGGAGTGCAGTGATGCTGTCACAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTCCCACCCCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCACCACCACACCCCACTTTTTAAAAAATCTTTTCAAGGAGATGGAGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGACTCAAGCAGTCTTTACACATTGGACTTCCAAAGCACTGAGATTACAGGCGGGACCCCCGGTCCTACAAACATATCTTTTAAAGAAGTGAATGGGTAAGTGAGTTTATCAATACATGCAATTAAATGACAGCTGGTGGGGGGTCCCCATCCAAAATCTTGCCCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCCAACACAGGTGGATCATATGAGGTCAGGAGTTTGAGACCATCTTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCGCACGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAAGAGGTGGAGGTTCAGTGAGCCGAGATCCTGTCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATGTCAGAAAAAAGAAAAAAAAAAAAAGCCGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACGAGGTCAGGAGATCAAGACTATCCTGGCCAACATGGATGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGTGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGACAGAGTAAGACTCCGTCTCAAAAACAAAAAGACAAAACAAAACAAAAAAAACCCCACAAAAAAAAAAGAAGTATCTTGCCCCTTTATATTATCAGAAAAGACTTAACGGCTCATTATAGACAACTTCCTTCTGAAATCAAACCTGGCCTGGGTCGTTATGTTTTCAAAGCAGAAAGCCAGACGAACCTCCAATTTTGACAGTAAAATCATGGGCGACCATGCAGTTTCTCTCTGCCAGGTCCCGATGCACAAACTTCTTGGCGTTCAGGTAGGCCATCCCGTCAGCAATCTCTGCCGCCATCTGAATCATCTCTTGAAGGGTAGGGGGAGGGCGGCCAGGATTATTCTAAAACAGAAACACGGGGTTGGTGTTTCAGCAGCACTGGGATCCGAGGAGGCCAGGAGCGGGTGCTCCACCGAGTACCCCGCTGGGTCCCCCGAAGCAGCTTACCTCAGCCTCTGGCCGCAGAGAACGGAGGTAGCTCTTCAGGTCTCCGTGAGCCATCAGCTCCATCACCACCAGCGTGGGCTGGCCCTTGGACACCACTCCCAGGAGGCGCACCTGCAGAGCAAGCAACCAGGGTTCTTGGAGGAGGGTCCGTGATTCGACTCACCAGGGTTCTCCTCCCTCCCTGGTGTCTATGTCACACACAGCACCCTGTGGCCTGGATGCAGCGTGCTCAGCCCTGGTCTAGGAGAGCAGACATACCTGCCCGGACAGCAGACAGATAGGCCTTTGTATTTTTTTTTTTTTAATTTTCGAGACGGAATCTTGCTGTTACCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGGTTACAGGTGCCCGCCTCCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCTGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGCCACTGCACCCAGCCAGGCCTTTGTATTTTAATCATTCCCTCTGCCTGGCTCTCTGTTCCCTGCCACATCCACAGGGCCCAGCTCCTCATGTCCTCTAAGTCTTTGCTCAAATACACCCCTGTCCAACCCTCCTTTCCTCCCTTTCTTCATGTTTCCATAGCATTTGCTCCTAATGTATAAAGGGTTTGGAGTCAGCTGGGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGTGGATCACCTGAATTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCTCCTGTTATCCCAGCTACTCAGGAGGCCGCGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTCTGGGCGACAGAGAGAGACTCTGTCTTAAAAATATATAAAAATAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTGAAAATACAAAAAAATTAGCCAGGCACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTAATAAAAAAAAGTATAAAAAGCATTAGCTGGGCGTGGTGGCAGGCACCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCTTGAATCCAGCAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAACAATCAGCCAGGCGTGGTAGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGTGTGAATCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGCACAACAAAGCGAGACTCCGTTTCAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATATATGAAATAAAATAAAAATAAAGGTTTTGGAGTCTGTCTCCGCCTGCTGTTTTGGAAGCTCTACAGGGGC
Task1_train_26355
This sequence variant lies in INSR (insulin receptor) on Chromosome 19. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Insulin-resistant diabetes mellitus AND acanthosis nigricans
ACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCGTACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGAAGGGGGAAGATGGGCTACTGTTTAAAGGGAGGGAAAAGAAGGTACCAAATCACAAAGAAGCTACATTTTTCTTTTTTTTTTTCTTTGATATGGAGCCTCACTCTGTCCTCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCTGATTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGCTGTCTGCCACCATGTCTAGCTAATGTTTTGTATTTTGAGTAGAGACAGGGTTTCACCGTGTTGACCAGGCTGGTCTCGAACTCCTGATCTCAGGTAATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCTGGCCAGGAGATGTCTTTTTGAGTCATAAATAGAATCATATCACTTCCTGCTGCCCCTTGCTAATGTAAGATAATGTCGAGATGACTTGCTGTGACACGCAAGGTCCTTCTGGGTCTGGTTTCTGCCTCTCTCCTCATCCTCACATCTCACGCTGCTCTGGTCCCCTCTATATTCCTTTTTTATTTGTTTTTTGAAATAGCGTCTCACTGTCACCCAGGCTGGAGTGCAGTGATGCTGTCACAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTCCCACCCCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCACCACCACACCCCACTTTTTAAAAAATCTTTTCAAGGAGATGGAGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGACTCAAGCAGTCTTTACACATTGGACTTCCAAAGCACTGAGATTACAGGCGGGACCCCCGGTCCTACAAACATATCTTTTAAAGAAGTGAATGGGTAAGTGAGTTTATCAATACATGCAATTAAATGACAGCTGGTGGGGGGTCCCCATCCAAAATCTTGCCCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCCAACACAGGTGGATCATATGAGGTCAGGAGTTTGAGACCATCTTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCGCACGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAAGAGGTGGAGGTTCAGTGAGCCGAGATCCTGTCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATGTCAGAAAAAAGAAAAAAAAAAAAAGCCGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACGAGGTCAGGAGATCAAGACTATCCTGGCCAACATGGATGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGTGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGACAGAGTAAGACTCCGTCTCAAAAACAAAAAGACAAAACAAAACAAAAAAAACCCCACAAAAAAAAAAGAAGTATCTTGCCCCTTTATATTATCAGAAAAGACTTAACGGCTCATTATAGACAACTTCCTTCTGAAATCAAACCTGGCCTGGGTCGTTATGTTTTCAAAGCAGAAAGCCAGACGAACCTCCAATTTTGACAGTAAAATCATGGGCGACCATGCAGTTTCTCGCTGCCAGGTCCCGATGCACAAACTTCTTGGCGTTCAGGTAGGCCATCCCGTCAGCAATCTCTGCCGCCATCTGAATCATCTCTTGAAGGGTAGGGGGAGGGCGGCCAGGATTATTCTAAAACAGAAACACGGGGTTGGTGTTTCAGCAGCACTGGGATCCGAGGAGGCCAGGAGCGGGTGCTCCACCGAGTACCCCGCTGGGTCCCCCGAAGCAGCTTACCTCAGCCTCTGGCCGCAGAGAACGGAGGTAGCTCTTCAGGTCTCCGTGAGCCATCAGCTCCATCACCACCAGCGTGGGCTGGCCCTTGGACACCACTCCCAGGAGGCGCACCTGCAGAGCAAGCAACCAGGGTTCTTGGAGGAGGGTCCGTGATTCGACTCACCAGGGTTCTCCTCCCTCCCTGGTGTCTATGTCACACACAGCACCCTGTGGCCTGGATGCAGCGTGCTCAGCCCTGGTCTAGGAGAGCAGACATACCTGCCCGGACAGCAGACAGATAGGCCTTTGTATTTTTTTTTTTTTAATTTTCGAGACGGAATCTTGCTGTTACCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGGTTACAGGTGCCCGCCTCCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCTGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGCCACTGCACCCAGCCAGGCCTTTGTATTTTAATCATTCCCTCTGCCTGGCTCTCTGTTCCCTGCCACATCCACAGGGCCCAGCTCCTCATGTCCTCTAAGTCTTTGCTCAAATACACCCCTGTCCAACCCTCCTTTCCTCCCTTTCTTCATGTTTCCATAGCATTTGCTCCTAATGTATAAAGGGTTTGGAGTCAGCTGGGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGTGGATCACCTGAATTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCTCCTGTTATCCCAGCTACTCAGGAGGCCGCGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTCTGGGCGACAGAGAGAGACTCTGTCTTAAAAATATATAAAAATAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTGAAAATACAAAAAAATTAGCCAGGCACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTAATAAAAAAAAGTATAAAAAGCATTAGCTGGGCGTGGTGGCAGGCACCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCTTGAATCCAGCAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAACAATCAGCCAGGCGTGGTAGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGTGTGAATCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGCACAACAAAGCGAGACTCCGTTTCAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATATATGAAATAAAATAAAAATAAAGGTTTTGGAGTCTGTCTCCGCCTGCTGTTTTGGAAGCTCTACAGGGGCAGGT
ACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCGTACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGAAGGGGGAAGATGGGCTACTGTTTAAAGGGAGGGAAAAGAAGGTACCAAATCACAAAGAAGCTACATTTTTCTTTTTTTTTTTCTTTGATATGGAGCCTCACTCTGTCCTCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCTGATTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGCTGTCTGCCACCATGTCTAGCTAATGTTTTGTATTTTGAGTAGAGACAGGGTTTCACCGTGTTGACCAGGCTGGTCTCGAACTCCTGATCTCAGGTAATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCTGGCCAGGAGATGTCTTTTTGAGTCATAAATAGAATCATATCACTTCCTGCTGCCCCTTGCTAATGTAAGATAATGTCGAGATGACTTGCTGTGACACGCAAGGTCCTTCTGGGTCTGGTTTCTGCCTCTCTCCTCATCCTCACATCTCACGCTGCTCTGGTCCCCTCTATATTCCTTTTTTATTTGTTTTTTGAAATAGCGTCTCACTGTCACCCAGGCTGGAGTGCAGTGATGCTGTCACAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTCCCACCCCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCACCACCACACCCCACTTTTTAAAAAATCTTTTCAAGGAGATGGAGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGACTCAAGCAGTCTTTACACATTGGACTTCCAAAGCACTGAGATTACAGGCGGGACCCCCGGTCCTACAAACATATCTTTTAAAGAAGTGAATGGGTAAGTGAGTTTATCAATACATGCAATTAAATGACAGCTGGTGGGGGGTCCCCATCCAAAATCTTGCCCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCCAACACAGGTGGATCATATGAGGTCAGGAGTTTGAGACCATCTTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCGCACGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAAGAGGTGGAGGTTCAGTGAGCCGAGATCCTGTCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATGTCAGAAAAAAGAAAAAAAAAAAAAGCCGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACGAGGTCAGGAGATCAAGACTATCCTGGCCAACATGGATGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGTGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGACAGAGTAAGACTCCGTCTCAAAAACAAAAAGACAAAACAAAACAAAAAAAACCCCACAAAAAAAAAAGAAGTATCTTGCCCCTTTATATTATCAGAAAAGACTTAACGGCTCATTATAGACAACTTCCTTCTGAAATCAAACCTGGCCTGGGTCGTTATGTTTTCAAAGCAGAAAGCCAGACGAACCTCCAATTTTGACAGTAAAATCATGGGCGACCATGCAGTTTCTCGCTGTCAGGTCCCGATGCACAAACTTCTTGGCGTTCAGGTAGGCCATCCCGTCAGCAATCTCTGCCGCCATCTGAATCATCTCTTGAAGGGTAGGGGGAGGGCGGCCAGGATTATTCTAAAACAGAAACACGGGGTTGGTGTTTCAGCAGCACTGGGATCCGAGGAGGCCAGGAGCGGGTGCTCCACCGAGTACCCCGCTGGGTCCCCCGAAGCAGCTTACCTCAGCCTCTGGCCGCAGAGAACGGAGGTAGCTCTTCAGGTCTCCGTGAGCCATCAGCTCCATCACCACCAGCGTGGGCTGGCCCTTGGACACCACTCCCAGGAGGCGCACCTGCAGAGCAAGCAACCAGGGTTCTTGGAGGAGGGTCCGTGATTCGACTCACCAGGGTTCTCCTCCCTCCCTGGTGTCTATGTCACACACAGCACCCTGTGGCCTGGATGCAGCGTGCTCAGCCCTGGTCTAGGAGAGCAGACATACCTGCCCGGACAGCAGACAGATAGGCCTTTGTATTTTTTTTTTTTTAATTTTCGAGACGGAATCTTGCTGTTACCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGGTTACAGGTGCCCGCCTCCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCTGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGCCACTGCACCCAGCCAGGCCTTTGTATTTTAATCATTCCCTCTGCCTGGCTCTCTGTTCCCTGCCACATCCACAGGGCCCAGCTCCTCATGTCCTCTAAGTCTTTGCTCAAATACACCCCTGTCCAACCCTCCTTTCCTCCCTTTCTTCATGTTTCCATAGCATTTGCTCCTAATGTATAAAGGGTTTGGAGTCAGCTGGGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGTGGATCACCTGAATTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCTCCTGTTATCCCAGCTACTCAGGAGGCCGCGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTCTGGGCGACAGAGAGAGACTCTGTCTTAAAAATATATAAAAATAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTGAAAATACAAAAAAATTAGCCAGGCACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTAATAAAAAAAAGTATAAAAAGCATTAGCTGGGCGTGGTGGCAGGCACCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCTTGAATCCAGCAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAACAATCAGCCAGGCGTGGTAGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGTGTGAATCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGCACAACAAAGCGAGACTCCGTTTCAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATATATGAAATAAAATAAAAATAAAGGTTTTGGAGTCTGTCTCCGCCTGCTGTTTTGGAAGCTCTACAGGGGCAGGT
Task1_train_26356
This sequence change occurs on Chromosome 19, altering INSR (insulin receptor). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Insulin resistance
ACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCGTACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGAAGGGGGAAGATGGGCTACTGTTTAAAGGGAGGGAAAAGAAGGTACCAAATCACAAAGAAGCTACATTTTTCTTTTTTTTTTTCTTTGATATGGAGCCTCACTCTGTCCTCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCTGATTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGCTGTCTGCCACCATGTCTAGCTAATGTTTTGTATTTTGAGTAGAGACAGGGTTTCACCGTGTTGACCAGGCTGGTCTCGAACTCCTGATCTCAGGTAATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCTGGCCAGGAGATGTCTTTTTGAGTCATAAATAGAATCATATCACTTCCTGCTGCCCCTTGCTAATGTAAGATAATGTCGAGATGACTTGCTGTGACACGCAAGGTCCTTCTGGGTCTGGTTTCTGCCTCTCTCCTCATCCTCACATCTCACGCTGCTCTGGTCCCCTCTATATTCCTTTTTTATTTGTTTTTTGAAATAGCGTCTCACTGTCACCCAGGCTGGAGTGCAGTGATGCTGTCACAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTCCCACCCCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCACCACCACACCCCACTTTTTAAAAAATCTTTTCAAGGAGATGGAGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGACTCAAGCAGTCTTTACACATTGGACTTCCAAAGCACTGAGATTACAGGCGGGACCCCCGGTCCTACAAACATATCTTTTAAAGAAGTGAATGGGTAAGTGAGTTTATCAATACATGCAATTAAATGACAGCTGGTGGGGGGTCCCCATCCAAAATCTTGCCCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCCAACACAGGTGGATCATATGAGGTCAGGAGTTTGAGACCATCTTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCGCACGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAAGAGGTGGAGGTTCAGTGAGCCGAGATCCTGTCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATGTCAGAAAAAAGAAAAAAAAAAAAAGCCGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACGAGGTCAGGAGATCAAGACTATCCTGGCCAACATGGATGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGTGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGACAGAGTAAGACTCCGTCTCAAAAACAAAAAGACAAAACAAAACAAAAAAAACCCCACAAAAAAAAAAGAAGTATCTTGCCCCTTTATATTATCAGAAAAGACTTAACGGCTCATTATAGACAACTTCCTTCTGAAATCAAACCTGGCCTGGGTCGTTATGTTTTCAAAGCAGAAAGCCAGACGAACCTCCAATTTTGACAGTAAAATCATGGGCGACCATGCAGTTTCTCGCTGCCAGGTCCCGATGCACAAACTTCTTGGCGTTCAGGTAGGCCATCCCGTCAGCAATCTCTGCCGCCATCTGAATCATCTCTTGAAGGGTAGGGGGAGGGCGGCCAGGATTATTCTAAAACAGAAACACGGGGTTGGTGTTTCAGCAGCACTGGGATCCGAGGAGGCCAGGAGCGGGTGCTCCACCGAGTACCCCGCTGGGTCCCCCGAAGCAGCTTACCTCAGCCTCTGGCCGCAGAGAACGGAGGTAGCTCTTCAGGTCTCCGTGAGCCATCAGCTCCATCACCACCAGCGTGGGCTGGCCCTTGGACACCACTCCCAGGAGGCGCACCTGCAGAGCAAGCAACCAGGGTTCTTGGAGGAGGGTCCGTGATTCGACTCACCAGGGTTCTCCTCCCTCCCTGGTGTCTATGTCACACACAGCACCCTGTGGCCTGGATGCAGCGTGCTCAGCCCTGGTCTAGGAGAGCAGACATACCTGCCCGGACAGCAGACAGATAGGCCTTTGTATTTTTTTTTTTTTAATTTTCGAGACGGAATCTTGCTGTTACCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGGTTACAGGTGCCCGCCTCCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCTGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGCCACTGCACCCAGCCAGGCCTTTGTATTTTAATCATTCCCTCTGCCTGGCTCTCTGTTCCCTGCCACATCCACAGGGCCCAGCTCCTCATGTCCTCTAAGTCTTTGCTCAAATACACCCCTGTCCAACCCTCCTTTCCTCCCTTTCTTCATGTTTCCATAGCATTTGCTCCTAATGTATAAAGGGTTTGGAGTCAGCTGGGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGTGGATCACCTGAATTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCTCCTGTTATCCCAGCTACTCAGGAGGCCGCGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTCTGGGCGACAGAGAGAGACTCTGTCTTAAAAATATATAAAAATAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTGAAAATACAAAAAAATTAGCCAGGCACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTAATAAAAAAAAGTATAAAAAGCATTAGCTGGGCGTGGTGGCAGGCACCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCTTGAATCCAGCAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAACAATCAGCCAGGCGTGGTAGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGTGTGAATCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGCACAACAAAGCGAGACTCCGTTTCAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATATATGAAATAAAATAAAAATAAAGGTTTTGGAGTCTGTCTCCGCCTGCTGTTTTGGAAGCTCTACAGGGGCAGGT
ACTCACCACATGTCAGAAGAAGTGGTGAAGACCCCATCCTTCAGGGACTCCGGTGCCATCCACCGTACAGGGAGCAGACCCTTGCCCCCTTTCCGGTAGTAATCCGTTTCATAGATGTCTCTGGTCATTCCAAAGTCTGACAACACAAAAGGTTCACACGCTCTTAACCTTCAGCCTTGGTCCTAGCATCTGCCACCTTGACTGCCCCACCTCTCACAGAGCCCTAAGAGGGGTTCACCTGGCCCACGTCTGCGCTCACCTGGGTGGTGGCCAAATCCAGTAAGAATGGATTCTGAGGGTACGCATGGGGAAGTGAAGGGGGAAGATGGGCTACTGTTTAAAGGGAGGGAAAAGAAGGTACCAAATCACAAAGAAGCTACATTTTTCTTTTTTTTTTTCTTTGATATGGAGCCTCACTCTGTCCTCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTACCTCCCTGATTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGCTGTCTGCCACCATGTCTAGCTAATGTTTTGTATTTTGAGTAGAGACAGGGTTTCACCGTGTTGACCAGGCTGGTCTCGAACTCCTGATCTCAGGTAATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCTGGCCAGGAGATGTCTTTTTGAGTCATAAATAGAATCATATCACTTCCTGCTGCCCCTTGCTAATGTAAGATAATGTCGAGATGACTTGCTGTGACACGCAAGGTCCTTCTGGGTCTGGTTTCTGCCTCTCTCCTCATCCTCACATCTCACGCTGCTCTGGTCCCCTCTATATTCCTTTTTTATTTGTTTTTTGAAATAGCGTCTCACTGTCACCCAGGCTGGAGTGCAGTGATGCTGTCACAGCTCACTGCAGCCTCCACCTCCTGGGCTCAAGCAATCCTCCCACCCCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCACCACCACACCCCACTTTTTAAAAAATCTTTTCAAGGAGATGGAGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGACTCAAGCAGTCTTTACACATTGGACTTCCAAAGCACTGAGATTACAGGCGGGACCCCCGGTCCTACAAACATATCTTTTAAAGAAGTGAATGGGTAAGTGAGTTTATCAATACATGCAATTAAATGACAGCTGGTGGGGGGTCCCCATCCAAAATCTTGCCCAGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCCAACACAGGTGGATCATATGAGGTCAGGAGTTTGAGACCATCTTGGCCAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGTGTGGTGGCGCACGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAAGAGGTGGAGGTTCAGTGAGCCGAGATCCTGTCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATGTCAGAAAAAAGAAAAAAAAAAAAAGCCGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACGAGGTCAGGAGATCAAGACTATCCTGGCCAACATGGATGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGCACACCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGTGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGACAGAGTAAGACTCCGTCTCAAAAACAAAAAGACAAAACAAAACAAAAAAAACCCCACAAAAAAAAAAGAAGTATCTTGCCCCTTTATATTATCAGAAAAGACTTAACGGCTCATTATAGACAACTTCCTTCTGAAATCAAACCTGGCCTGGGTCGTTATGTTTTCAAAGCAGAAAGCCAGACGAACCTCCAATTTTGACAGTAAAATCATGGGCGACCATGCAGTTTCTCGCTGTCAGGTCCCGATGCACAAACTTCTTGGCGTTCAGGTAGGCCATCCCGTCAGCAATCTCTGCCGCCATCTGAATCATCTCTTGAAGGGTAGGGGGAGGGCGGCCAGGATTATTCTAAAACAGAAACACGGGGTTGGTGTTTCAGCAGCACTGGGATCCGAGGAGGCCAGGAGCGGGTGCTCCACCGAGTACCCCGCTGGGTCCCCCGAAGCAGCTTACCTCAGCCTCTGGCCGCAGAGAACGGAGGTAGCTCTTCAGGTCTCCGTGAGCCATCAGCTCCATCACCACCAGCGTGGGCTGGCCCTTGGACACCACTCCCAGGAGGCGCACCTGCAGAGCAAGCAACCAGGGTTCTTGGAGGAGGGTCCGTGATTCGACTCACCAGGGTTCTCCTCCCTCCCTGGTGTCTATGTCACACACAGCACCCTGTGGCCTGGATGCAGCGTGCTCAGCCCTGGTCTAGGAGAGCAGACATACCTGCCCGGACAGCAGACAGATAGGCCTTTGTATTTTTTTTTTTTTAATTTTCGAGACGGAATCTTGCTGTTACCCAGGCTAGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGGTTACAGGTGCCCGCCTCCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCTGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGCCACTGCACCCAGCCAGGCCTTTGTATTTTAATCATTCCCTCTGCCTGGCTCTCTGTTCCCTGCCACATCCACAGGGCCCAGCTCCTCATGTCCTCTAAGTCTTTGCTCAAATACACCCCTGTCCAACCCTCCTTTCCTCCCTTTCTTCATGTTTCCATAGCATTTGCTCCTAATGTATAAAGGGTTTGGAGTCAGCTGGGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGTGGATCACCTGAATTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCTCCTGTTATCCCAGCTACTCAGGAGGCCGCGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTCTGGGCGACAGAGAGAGACTCTGTCTTAAAAATATATAAAAATAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTGAAAATACAAAAAAATTAGCCAGGCACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTAATAAAAAAAAGTATAAAAAGCATTAGCTGGGCGTGGTGGCAGGCACCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCTTGAATCCAGCAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAACAATCAGCCAGGCGTGGTAGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGTGTGAATCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGCACAACAAAGCGAGACTCCGTTTCAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATATATGAAATAAAATAAAAATAAAGGTTTTGGAGTCTGTCTCCGCCTGCTGTTTTGGAAGCTCTACAGGGGCAGGT
Task1_train_26357
The variant affects gene INSR (insulin receptor), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Insulin-resistant diabetes mellitus AND acanthosis nigricans
GAACTCCTGACCTCTGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGCCACTGCACCCAGCCAGGCCTTTGTATTTTAATCATTCCCTCTGCCTGGCTCTCTGTTCCCTGCCACATCCACAGGGCCCAGCTCCTCATGTCCTCTAAGTCTTTGCTCAAATACACCCCTGTCCAACCCTCCTTTCCTCCCTTTCTTCATGTTTCCATAGCATTTGCTCCTAATGTATAAAGGGTTTGGAGTCAGCTGGGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGTGGATCACCTGAATTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCTCCTGTTATCCCAGCTACTCAGGAGGCCGCGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTCTGGGCGACAGAGAGAGACTCTGTCTTAAAAATATATAAAAATAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTGAAAATACAAAAAAATTAGCCAGGCACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTAATAAAAAAAAGTATAAAAAGCATTAGCTGGGCGTGGTGGCAGGCACCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCTTGAATCCAGCAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAACAATCAGCCAGGCGTGGTAGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGTGTGAATCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGCACAACAAAGCGAGACTCCGTTTCAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATATATGAAATAAAATAAAAATAAAGGTTTTGGAGTCTGTCTCCGCCTGCTGTTTTGGAAGCTCTACAGGGGCAGGTATCCACTGTATCACAGGGACAAGAGCAGGGCTTTAAATGCCCCATAAATATGTGTGGCAAGGATGAAAGCACATAGGACTCAAAGAGGAACAAAGGAGCAGAAAGGCAGGAAGAGTTGGTGCTGCCTTCAAAGGAGAGTAGGAACGAGGGCAGGTGGTATCAGGTGGACCTCTATGTGGTCCTGGGTTACAAAGGTGCCAGGAAAAAGCAAGAAATGGAAGAGTCTAAAAAGCAATGGAAGATTGTGGAAAATGATGGAAGATTCCGGAAAGTGGTGGAAGATTCCAGAAAATGATGGAAGATTCCAGAAAGTGATGAAAGATTCTGGAAAGCAATGAAACATTCCAGAAAGTGATGAGACAGTGATAGAGTCTGGTTCCAGGCGAAGTGGGAGAGGATGGGATTTGAGAAGGGAATGATCCCTCCTCACACCTCTAGGATGGGAAGCTTAGTGGAGTGAGGGGTGGGTAGGAGGTTACACCCTGTGTCCTCTGTCGCTCTGTGCAGGAGGAGGAGGCAGAGAAAGGGAAGGGTCAGGAAAGCCAGCCCATGTCCCACCCCCACTGGACTCACCACGTGATGGCAGGTGAAGCCCTTCATGACCGAGGCCTCATTGAGGAACTCAATCCGCTCTCGGAGACTGGCTGACTCGTTGACCGTCTTCACCGCCACGCGGGTCTCTGCCTCACCCTTGATGATGTCCCTGGCATTGCCCTCATACACCATGCCGAAGGAGCCCTGCCCCAGCTCTCGAAGGAGGGTGATCTTCTCTCGAGACACCTCCCACTCGTCCGGCACGTACACAGAGCATGGAAACACTACTTCTTACTTATCTACACAGCATCCTTGGAGGATCCCTTGGGGGTCTGCAGCCACCTTCCACCCAAGCCCTCACCCAAACCCCCTCGAAAACACTCATGAAATGAGTTCTGTGATCCAGGACCCATGCCGGGCACTGGGCATATGGCCGAGAACAGGACAGGCATCTGCACCCATGGAGAGGGCATGGCAGAGACTCAAGGAAGGAGCCACAACTGGTCCAAGATCCTGGCCAATATGTCCTGAGGCAAACCTGCATCCCCATCCTTCTTGTCTGATTTCAGACCCTTGCTATGGAATGATGCTACTTCCCACCTGAGACTACTGTTTCTGCAAAGTGCCAAGGGGATGGAAGACAGGTTGTAATAGGTTGGGGAAAAAAAAAGCCAGGATACTTGGAGCTCTTCCCATGAAAAGGTGGAGTCTATCTCACCACCCCTTGGCCCTGGGCATGGCCTTGTGAGTTATTTTGGTCAATGGGAATCAACAAGAATTGTCCAAGCAGAGATTTGGAATGGACTGTTGCCCTGGAGCTTGCCCTGGAGCTTTCTACTAGGAACCAACAGAGGACCATGGAATGAAGCCTGAGCCAGCCTGCTGGAGCCTAAGAGGCTAGATGGACAGAGTGAGGCTCAGCCTCCCCCAGCTTAGGGCCCCCACCTTGGGACCACCCAGCCTACTGACCACCAGACATGTGAGTGAAATCATCTAAGACTACCGAGTGCTAGCTGACACACCAGCAAAATGTAGCTACATGGGTGAAGCCAGGCAAGACCAGAAGAACTGCCCAGCTGAGCCCAGCCCAAGTGGTCGACCCTGCCCAAGGGTCCCAGACCGGCTAGATGAGCCCATTCAGGCAGGTGCCAAATACCATGTGTCCAGATGCACACAGTAATGAGGTTTCTGCAGCAAGGGCAGTTTGGCAAGCTCAAATGAATAAGAGGGCTTTTCTTGGCCTCCCTGGGGAACCCATCCTTCACTCTCACTCAATGGTGAAGGCAAAGGAAGCTGATGAGTAGGGTTCTGGCCACCCACAGGGAAGGGATGGTACTCACCATCACTGGCACTGAGATACTCAGGGTTTGAAGAAGCGTAAAGCGGTCCCAGCGGCCCATCTGGCTGCCTGGAGGAGGAAAACGAGGCACGTTAGCTTGAGATTCTCATGGGACTCTGCAGAAAGGTGTTTCATACAAGACTCCCCAAGGCAAATGGCAGCCCTTACCAGCAGAATCCCCATAATCCTAGATGCAGTCTAGGGCAGGGATGGGGGACCTTTATGTTTTGAATGGAAGCCCATCAGACAGGTATGTAAGTGCATCAACATGGGAGCACTCATCCCTCCCTGGGTGGTTTTTTTTTTGTTTTGTTTTTGTTTTTGTTTTTACATTTCAGAGTTGCAGTCTTGCTCTGTTGTGGCTGGAGGGCAGTGGTATAATCATAGCTCACTGCAGTCTTAACCTTCTGGGCTCCAGAGATCCTCCCACTTCAGCTTTCTGAATAGCTGGGAATACAGGTGCTCACCACCACACCTGGCTAATTTGTAAAATTTCATATAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCTCAAGTGATCCTCCTGCCTCATCCTCCCGAGCGGCTGGGACTACAGATATGCACGACCATGCAGGGCTCTGGCTGGCTTTTTAAATAATTTATGGCCATCCATGTAACACTTAAAAGCCACTCACCCAGTACTGTTCTAGAGCGAGCTCATCCCGACTGATGAGAAACAATTATTAAATTTTCAGGAAACTAGTGAGCCAGTTGTTAAATACAAGCATCATTAAAGATTAAATTGTACAATGCCTTCCAAATAGAACAAAAAATATAAATTATAGAGGCTTACAATTAAATAAATTATCCTAAAAGCAAAGACAATACATGTTCAAAACTCATCACTTCCTAACTCTCATACTAC
GAACTCCTGACCTCTGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGCCACTGCACCCAGCCAGGCCTTTGTATTTTAATCATTCCCTCTGCCTGGCTCTCTGTTCCCTGCCACATCCACAGGGCCCAGCTCCTCATGTCCTCTAAGTCTTTGCTCAAATACACCCCTGTCCAACCCTCCTTTCCTCCCTTTCTTCATGTTTCCATAGCATTTGCTCCTAATGTATAAAGGGTTTGGAGTCAGCTGGGGGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGTGGATCACCTGAATTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCTCCTGTTATCCCAGCTACTCAGGAGGCCGCGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTCTGGGCGACAGAGAGAGACTCTGTCTTAAAAATATATAAAAATAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTGAAAATACAAAAAAATTAGCCAGGCACTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAACCCCGTCTCTAATAAAAAAAAGTATAAAAAGCATTAGCTGGGCGTGGTGGCAGGCACCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCTTGAATCCAGCAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAACAATCAGCCAGGCGTGGTAGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGTGTGAATCCAGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGCACAACAAAGCGAGACTCCGTTTCAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATATATATATATATGAAATAAAATAAAAATAAAGGTTTTGGAGTCTGTCTCCGCCTGCTGTTTTGGAAGCTCTACAGGGGCAGGTATCCACTGTATCACAGGGACAAGAGCAGGGCTTTAAATGCCCCATAAATATGTGTGGCAAGGATGAAAGCACATAGGACTCAAAGAGGAACAAAGGAGCAGAAAGGCAGGAAGAGTTGGTGCTGCCTTCAAAGGAGAGTAGGAACGAGGGCAGGTGGTATCAGGTGGACCTCTATGTGGTCCTGGGTTACAAAGGTGCCAGGAAAAAGCAAGAAATGGAAGAGTCTAAAAAGCAATGGAAGATTGTGGAAAATGATGGAAGATTCCGGAAAGTGGTGGAAGATTCCAGAAAATGATGGAAGATTCCAGAAAGTGATGAAAGATTCTGGAAAGCAATGAAACATTCCAGAAAGTGATGAGACAGTGATAGAGTCTGGTTCCAGGCGAAGTGGGAGAGGATGGGATTTGAGAAGGGAATGATCCCTCCTCACACCTCTAGGATGGGAAGCTTAGTGGAGTGAGGGGTGGGTAGGAGGTTACACCCTGTGTCCTCTGTCGCTCTGTGCAGGAGGAGGAGGCAGAGAAAGGGAAGGGTCAGGAAAGCCAGCCCATGTCCCACCCCCACTGGACTCACCACGTGATGGCAGGTGAAGCCCTTCATGACCGAGGCCTCATTGAGGAACTCAATCCGCTCTCGGAGACTGGCTGACTCGTTGACCGTCTTCACCGCCACGCGGGTCTCTGCCTCACCCTTGATGATGTCCCTGGCATTGCCCTCATACACCATGACGAAGGAGCCCTGCCCCAGCTCTCGAAGGAGGGTGATCTTCTCTCGAGACACCTCCCACTCGTCCGGCACGTACACAGAGCATGGAAACACTACTTCTTACTTATCTACACAGCATCCTTGGAGGATCCCTTGGGGGTCTGCAGCCACCTTCCACCCAAGCCCTCACCCAAACCCCCTCGAAAACACTCATGAAATGAGTTCTGTGATCCAGGACCCATGCCGGGCACTGGGCATATGGCCGAGAACAGGACAGGCATCTGCACCCATGGAGAGGGCATGGCAGAGACTCAAGGAAGGAGCCACAACTGGTCCAAGATCCTGGCCAATATGTCCTGAGGCAAACCTGCATCCCCATCCTTCTTGTCTGATTTCAGACCCTTGCTATGGAATGATGCTACTTCCCACCTGAGACTACTGTTTCTGCAAAGTGCCAAGGGGATGGAAGACAGGTTGTAATAGGTTGGGGAAAAAAAAAGCCAGGATACTTGGAGCTCTTCCCATGAAAAGGTGGAGTCTATCTCACCACCCCTTGGCCCTGGGCATGGCCTTGTGAGTTATTTTGGTCAATGGGAATCAACAAGAATTGTCCAAGCAGAGATTTGGAATGGACTGTTGCCCTGGAGCTTGCCCTGGAGCTTTCTACTAGGAACCAACAGAGGACCATGGAATGAAGCCTGAGCCAGCCTGCTGGAGCCTAAGAGGCTAGATGGACAGAGTGAGGCTCAGCCTCCCCCAGCTTAGGGCCCCCACCTTGGGACCACCCAGCCTACTGACCACCAGACATGTGAGTGAAATCATCTAAGACTACCGAGTGCTAGCTGACACACCAGCAAAATGTAGCTACATGGGTGAAGCCAGGCAAGACCAGAAGAACTGCCCAGCTGAGCCCAGCCCAAGTGGTCGACCCTGCCCAAGGGTCCCAGACCGGCTAGATGAGCCCATTCAGGCAGGTGCCAAATACCATGTGTCCAGATGCACACAGTAATGAGGTTTCTGCAGCAAGGGCAGTTTGGCAAGCTCAAATGAATAAGAGGGCTTTTCTTGGCCTCCCTGGGGAACCCATCCTTCACTCTCACTCAATGGTGAAGGCAAAGGAAGCTGATGAGTAGGGTTCTGGCCACCCACAGGGAAGGGATGGTACTCACCATCACTGGCACTGAGATACTCAGGGTTTGAAGAAGCGTAAAGCGGTCCCAGCGGCCCATCTGGCTGCCTGGAGGAGGAAAACGAGGCACGTTAGCTTGAGATTCTCATGGGACTCTGCAGAAAGGTGTTTCATACAAGACTCCCCAAGGCAAATGGCAGCCCTTACCAGCAGAATCCCCATAATCCTAGATGCAGTCTAGGGCAGGGATGGGGGACCTTTATGTTTTGAATGGAAGCCCATCAGACAGGTATGTAAGTGCATCAACATGGGAGCACTCATCCCTCCCTGGGTGGTTTTTTTTTTGTTTTGTTTTTGTTTTTGTTTTTACATTTCAGAGTTGCAGTCTTGCTCTGTTGTGGCTGGAGGGCAGTGGTATAATCATAGCTCACTGCAGTCTTAACCTTCTGGGCTCCAGAGATCCTCCCACTTCAGCTTTCTGAATAGCTGGGAATACAGGTGCTCACCACCACACCTGGCTAATTTGTAAAATTTCATATAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCTCAAGTGATCCTCCTGCCTCATCCTCCCGAGCGGCTGGGACTACAGATATGCACGACCATGCAGGGCTCTGGCTGGCTTTTTAAATAATTTATGGCCATCCATGTAACACTTAAAAGCCACTCACCCAGTACTGTTCTAGAGCGAGCTCATCCCGACTGATGAGAAACAATTATTAAATTTTCAGGAAACTAGTGAGCCAGTTGTTAAATACAAGCATCATTAAAGATTAAATTGTACAATGCCTTCCAAATAGAACAAAAAATATAAATTATAGAGGCTTACAATTAAATAAATTATCCTAAAAGCAAAGACAATACATGTTCAAAACTCATCACTTCCTAACTCTCATACTAC
Task1_train_26358
A genetic alteration is present in INSR (insulin receptor) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Insulin-resistant diabetes mellitus AND acanthosis nigricans
GAAAGTAACTTATAAGGTTTTTGTTGTTGCTGTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGCGCAATGGTGCAATCTCTGCTCACTGCAACCTCCACCTCCTGGCTTCAAGTGATTCTCCTGCCTCAGCTTCCCACCTTGGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACGCCTGGCTAATTTTTGTATTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTTGGATTACAGGTGTGAGCCACTGTACCCAGCAATTTATAAGGTTTTAAGACTCAAATAACTCCTTCTAAAGTGAAATGAGTCTCCTGTTGTGGTGGGAGGCAGACATCATTCAACTTAGAGGACACAGCTGGAAAGCAATGTGAGAAACTAAGAAAAGTAACAAGCTGGTAGATTGGCATTTCTGACCCATCTTCCTGCGAAGTCAGGTATCAAGGCTTTAAGTACTAATAGCACAGTACCTGATGAGAGAAGCACTGGAATCAAAATTTCAGCAGAGGAAGGAGGTACCAAGTGCAACTCTGAAGGGGCATGCTGAAGTGTGCAGGGGCATGCCCAAGAGTCAAGGGCCTTACCTCATCACCATATCGCCGATAACTCACTTCATACAGCACGATCAGACCATTGGGCTCCTTCGGCTCCTGCCACATCAAGTGGACGACGTTGTTCTCAAAGATTTCATGCGTCACAGGGCCAACAATGTCATCAGCCTTGGCTGTAAGGAGAGGAAGTGAGAGGCAGGGATGTAACTCTTGGATGAGATCCCACTTCTGCCACCTGTCCATGGTGCAACCTTGGGCTGGTGACGTCATTTTCCCACAACCCATTTTCCTCGTCAGAGAACGGACATCTAAAACTCATCCCACAAGATTGTTAGGAAGATTAAATGGGTTACTTTCTGCGTATAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGTGTATTTTCTAAAGTTTACATAATGATTGCCTATGACTCATAATTTTAAAATATGACCTGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGCTCAAGGTTGGCGGACCACTTGAGCTCAGGCATTGGAGACCAGCCTGGGCAACATGGTGGAACCATCTCTACTGAAAATACAGGTGTGGTGGCACACGCATGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGCGGAGATTGCAGTGAGCCAAGATTGCGCCATTGTACTCCAGCCTGGGCGACAGAGCAAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGGCCAGGTTCGGTGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCGATGTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGAATCACTTGACATAGGTGGCAGAGGCTGGAGTGAGCTGAGGTCGCACCACTGTACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCTCAAACAAAAATGAAGGCCAATAAGGTAAAATACAGATATGCACTGCTTAGAGGGTGGAGAATCTGTCCTTGGTCAGCCTTGATGTCCCACCCATGACACTCGGACCCCGGAGCAGCAGCCCTACCTTCAGGCATGGTCCTCGCACTGACGTAGGCTGCCACACTGCACCGTTCCTCAGGGGTGTCCTGGTTGCAAGCCTGCAGCTCGATGCGATAGCCCGTGAAGTGTCGCAAGCCGGAGATGACCAGCGACTCCTTGTTCACCACCTTCTCAAAAGGCCTGTGCTCCTCCGGACTCGTGGGCACGCTGGTCGAGGAAGTGTTGGGGAAAGCTGCCACCGTGGGCACGGCCACCGTCACATTCCCAACATCGCCAAGGGACCTGCGTTTCCGAGATGGCCTGGAACGACAGTAGGACATGTATGATGACACCATCACCATCATTTTTTTTAAAAAAGTGACACTGGAGAATAAAAGGCTTGATTAAGAAGAAAGATCAGAGCGCAGGAGGGTGCAGCAATGGGGAACATGGATTACAATACAGACTGCCAGGAATGACCACTCAGAGCAGCTTTCAATATACCCTTGTGAGCATCTGAAGGATTAGAGCAGGCCCACCTCGTGAGGGATGAGTGCTTCTAAGACCGTCAATGGTAGACACACACCGATATTCCCCTCGACATGCTCGATTTCAGGTTTTTCATTTTGCAGATAAATAGGCCAGCCAGGGTCAGTGACAAAAATAAGACACCAAAAGCACGTAAGAGTCTAGCTTTTCAGGAAGCCCTGCCAAATGGCATTTGCTCATTGGCCCAAGCTACTGATCGACATCATCAGTTTAAATAGGAAAAAATACATCTTTTCCTTCTTATTGCTGCTTAGGGCACCTGTATAATTTGAGTGATTAAGCTGCAATTCTTAGAAAAGGAATCACATCACTCAGGTCAGGAAGATTAACTCCAAGAAACATCTATGCAATTGGCACACTTCTCCCCATCCCTTAAGAAGACATATTAAACAACAAAGGTTGATAGCTAACAAATTTTAAAATACAAAGAAAAAAGGATAAAGAAGAAAATGTAGGCTGGGCGAGGTGGCTCATGCCTATAATCCCAGTACTTTGGGAGGCCAAGGCGGGCAGATAACCTGAGGTTAGGAGTTCAAGACCAGTCTGGCCAACATGGGGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGAGCCTGATGGTGCACAGCTTTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGTCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAAGAAAATATAAATCACTCATAAATCCACAGCCCACTGCTTCCTTTGGACAATTTTTTCCCTGTAAATATTATGTGTGAACATGATGAGGATCAAGCCTGTTTTATAAGTAAACTTTGTCTACTTATTATATTGGAAGCATTTACTAAATATTTTCCTTTCAACATAACATTTTAGGAGAGAATTTTGGGACTTTTCCTTTTTAATATTAGGGTTTTCCTCCATCATCTACAAAAGTAGCATGTGTTCCCTGCAGAAAACTTGGAAAACGATGAATGACTGTAAAATATTCCATTTGCTACGTGAGTCGTCACTCACTTAACCATCCTCCTTATTTATTTATTTATTTTGAGACAGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCGACGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCATGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGTCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCCAGGATTACAGGCATGAGCCACCGCACATGGCTCTTTTTTTTTTTTTTTGCTGTTATAAATATTCCTTTGATCATTGTCTGATTGTCTTATTACTTCCCCAAAGTAGATTCCTAGAGGAAAATATTACTAGGTTCAGGGAGATAAGAAACTCTTTAAGCTTCTTAATACCTACAGCTAAATGGTTGTCCAGAAACTCTATATTGACTTGTGGTTGCACCAGCAGGCCATGAGACTGCATTCCAGGACAATCTCAGCAACCCCTAAGCCTTAATAGTTTTTTTTTTTCTTTCTATGTTTGTTTGTCTAGATCTTTAACCCAAGAGATTAAAAATATGCTATCACTCGACTACGTTATTTGCGGATCTTTATATTACTGAGTGTGACTTCATTTTTCCTTTATTGGTTCTCTGTGATTCTCCAAAGAATTGTCCCCTCCTTGTCTTTTGTC
GAAAGTAACTTATAAGGTTTTTGTTGTTGCTGTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGCGCAATGGTGCAATCTCTGCTCACTGCAACCTCCACCTCCTGGCTTCAAGTGATTCTCCTGCCTCAGCTTCCCACCTTGGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACGCCTGGCTAATTTTTGTATTTTTGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTTGGATTACAGGTGTGAGCCACTGTACCCAGCAATTTATAAGGTTTTAAGACTCAAATAACTCCTTCTAAAGTGAAATGAGTCTCCTGTTGTGGTGGGAGGCAGACATCATTCAACTTAGAGGACACAGCTGGAAAGCAATGTGAGAAACTAAGAAAAGTAACAAGCTGGTAGATTGGCATTTCTGACCCATCTTCCTGCGAAGTCAGGTATCAAGGCTTTAAGTACTAATAGCACAGTACCTGATGAGAGAAGCACTGGAATCAAAATTTCAGCAGAGGAAGGAGGTACCAAGTGCAACTCTGAAGGGGCATGCTGAAGTGTGCAGGGGCATGCCCAAGAGTCAAGGGCCTTACCTCATCACCATATCGCCGATAACTCACTTCATACAGCACGATCAGACCATTGGGCTCCTTCGGCTCCTGCCACATCAAGTGGACGACGTTGTTCTCAAAGATTTCATGCGTCACAGGGCCAACAATGTCATCAGCCTTGGCTGTAAGGAGAGGAAGTGAGAGGCAGGGATGTAACTCTTGGATGAGATCCCACTTCTGCCACCTGTCCATGGTGCAACCTTGGGCTGGTGACGTCATTTTCCCACAACCCATTTTCCTCGTCAGAGAACGGACATCTAAAACTCATCCCACAAGATTGTTAGGAAGATTAAATGGGTTACTTTCTGCGTATAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCGGGAGTGCAGTGGTGTATTTTCTAAAGTTTACATAATGATTGCCTATGACTCATAATTTTAAAATATGACCTGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGCTCAAGGTTGGCGGACCACTTGAGCTCAGGCATTGGAGACCAGCCTGGGCAACATGGTGGAACCATCTCTACTGAAAATACAGGTGTGGTGGCACACGCATGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGCGGAGATTGCAGTGAGCCAAGATTGCGCCATTGTACTCCAGCCTGGGCGACAGAGCAAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGGCCAGGTTCGGTGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCGATGTGGGTGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGGAATCACTTGACATAGGTGGCAGAGGCTGGAGTGAGCTGAGGTCGCACCACTGTACTCCAGCCTGGGCGACAGAGCAAGGCTCCGTCTCAAACAAAAATGAAGGCCAATAAGGTAAAATACAGATATGCACTGCTTAGAGGGTGGAGAATCTGTCCTTGGTCAGCCTTGATGTCCCACCCATGACACTCGGACCCCGGAGCAGCAGCCCTACCTTCAGGCATGGTCCTCGCACTGACGTAGGCTGCCACACTGCACCGTTCCTCAGGGGTGTCCTGGTTGCAAGCCTGCAGCTCGATGCGATAGCCCGTGAAGTGTCGCAAGCCGGAGATGACCAGCGACTCCTTGTTCACCACCTTCTCAAAAGGCCTGTGCTCCTCCGGACTCGTGGGCACGCTGGTCGAGGAAGTGTTGGGGAAAGCTGCCACCGTGGGCACGGCCACCGTCACATTCCCAACATCGCCAAGGGAACTGCGTTTCCGAGATGGCCTGGAACGACAGTAGGACATGTATGATGACACCATCACCATCATTTTTTTTAAAAAAGTGACACTGGAGAATAAAAGGCTTGATTAAGAAGAAAGATCAGAGCGCAGGAGGGTGCAGCAATGGGGAACATGGATTACAATACAGACTGCCAGGAATGACCACTCAGAGCAGCTTTCAATATACCCTTGTGAGCATCTGAAGGATTAGAGCAGGCCCACCTCGTGAGGGATGAGTGCTTCTAAGACCGTCAATGGTAGACACACACCGATATTCCCCTCGACATGCTCGATTTCAGGTTTTTCATTTTGCAGATAAATAGGCCAGCCAGGGTCAGTGACAAAAATAAGACACCAAAAGCACGTAAGAGTCTAGCTTTTCAGGAAGCCCTGCCAAATGGCATTTGCTCATTGGCCCAAGCTACTGATCGACATCATCAGTTTAAATAGGAAAAAATACATCTTTTCCTTCTTATTGCTGCTTAGGGCACCTGTATAATTTGAGTGATTAAGCTGCAATTCTTAGAAAAGGAATCACATCACTCAGGTCAGGAAGATTAACTCCAAGAAACATCTATGCAATTGGCACACTTCTCCCCATCCCTTAAGAAGACATATTAAACAACAAAGGTTGATAGCTAACAAATTTTAAAATACAAAGAAAAAAGGATAAAGAAGAAAATGTAGGCTGGGCGAGGTGGCTCATGCCTATAATCCCAGTACTTTGGGAGGCCAAGGCGGGCAGATAACCTGAGGTTAGGAGTTCAAGACCAGTCTGGCCAACATGGGGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGAGCCTGATGGTGCACAGCTTTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGTCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAGAAAAGAAAATATAAATCACTCATAAATCCACAGCCCACTGCTTCCTTTGGACAATTTTTTCCCTGTAAATATTATGTGTGAACATGATGAGGATCAAGCCTGTTTTATAAGTAAACTTTGTCTACTTATTATATTGGAAGCATTTACTAAATATTTTCCTTTCAACATAACATTTTAGGAGAGAATTTTGGGACTTTTCCTTTTTAATATTAGGGTTTTCCTCCATCATCTACAAAAGTAGCATGTGTTCCCTGCAGAAAACTTGGAAAACGATGAATGACTGTAAAATATTCCATTTGCTACGTGAGTCGTCACTCACTTAACCATCCTCCTTATTTATTTATTTATTTTGAGACAGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCGACGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCTGAGTTCATGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGTCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCCAGGATTACAGGCATGAGCCACCGCACATGGCTCTTTTTTTTTTTTTTTGCTGTTATAAATATTCCTTTGATCATTGTCTGATTGTCTTATTACTTCCCCAAAGTAGATTCCTAGAGGAAAATATTACTAGGTTCAGGGAGATAAGAAACTCTTTAAGCTTCTTAATACCTACAGCTAAATGGTTGTCCAGAAACTCTATATTGACTTGTGGTTGCACCAGCAGGCCATGAGACTGCATTCCAGGACAATCTCAGCAACCCCTAAGCCTTAATAGTTTTTTTTTTTCTTTCTATGTTTGTTTGTCTAGATCTTTAACCCAAGAGATTAAAAATATGCTATCACTCGACTACGTTATTTGCGGATCTTTATATTACTGAGTGTGACTTCATTTTTCCTTTATTGGTTCTCTGTGATTCTCCAAAGAATTGTCCCCTCCTTGTCTTTTGTC
Task1_train_26359
A genetic alteration is present in INSR (insulin receptor) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; INSR-related disorder
GAGTTTAGAGACCCTGCAGATCATTAGACATCGGAGAGACGCATCTAAGTAATTCTCTCTGCCTAGAAGACAAACCCTCTCCTAAACCTCACCCCAACCTCGCTCTCTCTCCTTGCACTACATTTTTTTTGAGACAGTCTTGCTCTGTCACCAAGGCTGGAGTGCAGTCCACCTACCGGGTTTAAGCAATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCCACCACCACGTCCAGCTAGTTTTTGTATTTTTTTTTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTCCAGGCGTGAGCCACCATGCCCAGCCCTTGCACTACATTTTGACATAAGTAACTAACTCCCCATGAAGGTATCCCAGAAGCCCTTGGCAGCTCACTGTTTAGAATCTGTCAGGGAAGTGCAGTCAGCAGGCAGCCTGCAGCTGCAGAAACTGCAGGACCTGCTGTAGCATTCCAGCCAAAACCTGACTCTCCCTGGACAGCCCCCACCTATGACTGAGCTTGGTAGATGCCTGGCCGTCCCTTTGCAATGCAGAACTTCCCTGCAGACAACCGTGGCCTTGATCTCTTTCTGGGTTTGGCCAAGACTCAGGGATGCATCACCATCTGAGACTCTCCCAGCCCTATCCTCCCTCCTTCCCGCTCTCTGTTCACAGAGGTCAGACACACGCTATTGTCAAAAGGCTCTTCATGGCTGAGCGTGGTGACTCACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAATTAGCCGGGCTTGGTGGCATGTGCCTGTAATCCCAGCTATTCTGGAGGCTGAGGCGAGATAATTACCTGAACCCAGGGGAAGGAGGTTGCAGTGAGGCAAGATCACGCCACTGCACTCCAGCCCTGGGTGACAGAGCAAGACTCTGTCCCAAAAAAAAAAAAAAAAAAAAAAGAAGCTCTTCCTCTGTTTCATATTTTATGAATATTACCCTCAATACATTTTCTGCACTCCTAACTTCAACTTGGCAGTCACTTCCCAGGAGATGCAGACTGACATAGGTATTTTACTCAACTTTGAAGTCTTCAGCATCAGCCTGATACACATATAAGAAGGTGTCATCCATTCATCCATCATTCATTCATCCATTCATTCAGTGCTTGTATGACTTCATCCCGTATCCGGTACTATATGGCACAGTAAGCATAGTGATAATATTAATAAATGTGCAGAATCTGCCCTCAGTAAGAAAGCCTATCACACAGTGAGTTGTTAGAGGGAAGTAATACCCCCTGGGGGTGACTGTGATGGATGAGAGAGGACAGCCACATTATCTGGTTTGTGGACCACTTACAGCAGGGGTCCCCAGCCCCTGGGCCACAGACCAGTACTTATCCATGGCCTGTTACGAACAGGGCTGTACAGCAGGAGGTGAGTGATAGGTGAGCAAGTGAAGCTTCATCTGTATTTACAGTCACTCCCCATCGCTTGCATGACCACCTGAGTTCTGCCTCCTGTCAGATTAGCGGCGGCATTAGATTCTCACAGGGGTGTGAACCCTATTGTGAACTGTGTACATGAGGTACCTAGACTGCACACTCCTTATGAAAATCTAATGCCTGATGATCTGTCACTGTCTCCCATCACCCCCAGCTGGGACCATCTAGTTGCAGGAACACAAGCTCAGGGTTCCCATTGATTCTACATGATGGTGAGTTGTACAATTCTTTCATTATATATTACAATGTAATCATAATAGGAATAAAGTGCATAGTAAATGTAATGCACTTGAATCATGCTGAAACCATCCCCACCCACCACCAGTCCATGGAAAAACCATCTTCCACTACACCGGTCCCTCATGCCAAAAAGGTTGGGGACCAGTGACTTACAGGATGCCTGGTCCCCATTGGTCTTCAGGGCAATGTCGTTTCTCTCCTGGCGCCCCTTGGTTCCTGAAACTTCTTCCATCTTGTGGATTTCTGACAAGCAGAGTTTGGGGTTATAGTGGAAGAAGAGTTTCCCCTGAGTGATGGTGAGGTTGTGTTTGCTCCAGTCCCAGAGCTGCCTTAGGTTCTGGTTGTCCAAGGCATAGAAGGAGTAGTTCCTATGGAAAAAACACACACATCTAGTCATTCAACGGCTGGTCTTCTACAACTCCAAGATGGTGTGGCCATGCTCGGAGTTGATCTTGTTCAGTGCTACGTGCCTAATCCTCTCCACTTGCTTGGCACATACTCAACACATATTTGTTGAATGTGGATAACAGAGGAAGTTGAGGAAGTTTTCATGGCCAGGAAGGAGGCTCAGCTCAGTCTTGAAGAGGGGTGGTGAGTCTGTGATGGACTGAGGAATAGGTTTTGCAGAAACCAATTTCTGCAAATAGGGGAAATACTGATAACACAGAGGCACCTAAGCTGAGTTCAGGGAAGAGCAAAGTAGCCTGTTTTGGCCAATAGGTGACAGGAAATAGCTGTAGTTGCAATGGACCAGACCCTCTAGTATATTGCATGCCAGACCAAGACCAAGAACATGTGGCCATCCTTAATAAGGAGAAAGGAGCCATTGAAGGTTTTTGTTTGTTTGTTTGTTTGTTTTATTGAGATGGATTCTCACTCTGGTGCCTAGGCTGGAGTACAGATAATATAGTCTAAACTATATTGTTTAGACCACCTTCTCAAGTCACTTACCAGCTCATGTTGATTAACATGTCCTTTTGTCCCTTTCCCCATTTGCTGTCTGTTCTACAGATGTGAGGCTGGGGCTGAGGCAGCCATCTTGTGACCATGAGGAGCACAAAGATGGAAAGAATCTGGGTCTTCCACAGACCTCCTGCCTATGAGTCAATCTTGATCTAGCTAGTTTGAGTTTCTGCTGTTTTGCTAATAGAGTTTCTAGGACCTCAAGGAGAAGGTTGGAATATACTGGAATATACTGAGATGGAGTCCATCCCAGAAATTAGGATGGACAACCGGGACTAAGAGGGAATGTTCATTTTATGCATGCCAAACTCTACTCACAATGCAGCCCAAACAGCAAATTTAGCAAAAATTCCAGCCTGTACCCTTGGAGGATGGGCACCAAGGTTGGGCTGCTCCCACTTTTGTTTCTCAAGAATGACTATAAAAAAGCTTTTACAATTTTTGGCTGGATGGACCTTTAGGCACATTCCAAGTTCTTTTTTCCCGAGGTTTTGCCAGATATACTTTTATTTGTTTTTTATTTGTTTTTATTTGATTTTTAAAAAATCCTTAAGTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTGGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACTATCACACTTGGCTAATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCCGCCTCAAGTGATTCACCCACGTTGGCCTCCTAAAATGCTGGGATTACAGGCATCAGCCACCACACCTGGCCAAAAAAATCCTTAAGTTGTTCTAATACACGAACTTCCTAGTTAGCACTCAGGCCATACACACAATCAGGCCCACGTACCCAATTTCCAAGGTCTCTCCTCGAATCAGACGTAACTTCCGGAAGAAGGAAAGTGACACCAGAGCGTAGGATCGGCGGATTTTTAGATACCCTGAAATTTCTTCAATGAGGCCGAGGTTGGCTTCTAGCTCAGCTGCCAGATTGTCTAAGGAAAGGAGAGAATATCCAGTGGGTTTCTATAGACATATTTCAATCTTCTCATGATTCTCCATGGTGAGAAGATAACCCTCAGGCTGCAAATGACTGGACATACCCAGCTCAAAACTCATCATGCTTAGAACACAATCTGAAGTCCTTAGCATTCCTTAAATGGGTCAAG
GAGTTTAGAGACCCTGCAGATCATTAGACATCGGAGAGACGCATCTAAGTAATTCTCTCTGCCTAGAAGACAAACCCTCTCCTAAACCTCACCCCAACCTCGCTCTCTCTCCTTGCACTACATTTTTTTTGAGACAGTCTTGCTCTGTCACCAAGGCTGGAGTGCAGTCCACCTACCGGGTTTAAGCAATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCCACCACCACGTCCAGCTAGTTTTTGTATTTTTTTTTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTCCAGGCGTGAGCCACCATGCCCAGCCCTTGCACTACATTTTGACATAAGTAACTAACTCCCCATGAAGGTATCCCAGAAGCCCTTGGCAGCTCACTGTTTAGAATCTGTCAGGGAAGTGCAGTCAGCAGGCAGCCTGCAGCTGCAGAAACTGCAGGACCTGCTGTAGCATTCCAGCCAAAACCTGACTCTCCCTGGACAGCCCCCACCTATGACTGAGCTTGGTAGATGCCTGGCCGTCCCTTTGCAATGCAGAACTTCCCTGCAGACAACCGTGGCCTTGATCTCTTTCTGGGTTTGGCCAAGACTCAGGGATGCATCACCATCTGAGACTCTCCCAGCCCTATCCTCCCTCCTTCCCGCTCTCTGTTCACAGAGGTCAGACACACGCTATTGTCAAAAGGCTCTTCATGGCTGAGCGTGGTGACTCACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAATTAGCCGGGCTTGGTGGCATGTGCCTGTAATCCCAGCTATTCTGGAGGCTGAGGCGAGATAATTACCTGAACCCAGGGGAAGGAGGTTGCAGTGAGGCAAGATCACGCCACTGCACTCCAGCCCTGGGTGACAGAGCAAGACTCTGTCCCAAAAAAAAAAAAAAAAAAAAAAGAAGCTCTTCCTCTGTTTCATATTTTATGAATATTACCCTCAATACATTTTCTGCACTCCTAACTTCAACTTGGCAGTCACTTCCCAGGAGATGCAGACTGACATAGGTATTTTACTCAACTTTGAAGTCTTCAGCATCAGCCTGATACACATATAAGAAGGTGTCATCCATTCATCCATCATTCATTCATCCATTCATTCAGTGCTTGTATGACTTCATCCCGTATCCGGTACTATATGGCACAGTAAGCATAGTGATAATATTAATAAATGTGCAGAATCTGCCCTCAGTAAGAAAGCCTATCACACAGTGAGTTGTTAGAGGGAAGTAATACCCCCTGGGGGTGACTGTGATGGATGAGAGAGGACAGCCACATTATCTGGTTTGTGGACCACTTACAGCAGGGGTCCCCAGCCCCTGGGCCACAGACCAGTACTTATCCATGGCCTGTTACGAACAGGGCTGTACAGCAGGAGGTGAGTGATAGGTGAGCAAGTGAAGCTTCATCTGTATTTACAGTCACTCCCCATCGCTTGCATGACCACCTGAGTTCTGCCTCCTGTCAGATTAGCGGCGGCATTAGATTCTCACAGGGGTGTGAACCCTATTGTGAACTGTGTACATGAGGTACCTAGACTGCACACTCCTTATGAAAATCTAATGCCTGATGATCTGTCACTGTCTCCCATCACCCCCAGCTGGGACCATCTAGTTGCAGGAACACAAGCTCAGGGTTCCCATTGATTCTACATGATGGTGAGTTGTACAATTCTTTCATTATATATTACAATGTAATCATAATAGGAATAAAGTGCATAGTAAATGTAATGCACTTGAATCATGCTGAAACCATCCCCACCCACCACCAGTCCATGGAAAAACCATCTTCCACTACACCGGTCCCTCATGCCAAAAAGGTTGGGGACCAGTGACTTACAGGATGCCTGGTCCCCATTGGTCTCCAGGGCAATGTCGTTTCTCTCCTGGCGCCCCTTGGTTCCTGAAACTTCTTCCATCTTGTGGATTTCTGACAAGCAGAGTTTGGGGTTATAGTGGAAGAAGAGTTTCCCCTGAGTGATGGTGAGGTTGTGTTTGCTCCAGTCCCAGAGCTGCCTTAGGTTCTGGTTGTCCAAGGCATAGAAGGAGTAGTTCCTATGGAAAAAACACACACATCTAGTCATTCAACGGCTGGTCTTCTACAACTCCAAGATGGTGTGGCCATGCTCGGAGTTGATCTTGTTCAGTGCTACGTGCCTAATCCTCTCCACTTGCTTGGCACATACTCAACACATATTTGTTGAATGTGGATAACAGAGGAAGTTGAGGAAGTTTTCATGGCCAGGAAGGAGGCTCAGCTCAGTCTTGAAGAGGGGTGGTGAGTCTGTGATGGACTGAGGAATAGGTTTTGCAGAAACCAATTTCTGCAAATAGGGGAAATACTGATAACACAGAGGCACCTAAGCTGAGTTCAGGGAAGAGCAAAGTAGCCTGTTTTGGCCAATAGGTGACAGGAAATAGCTGTAGTTGCAATGGACCAGACCCTCTAGTATATTGCATGCCAGACCAAGACCAAGAACATGTGGCCATCCTTAATAAGGAGAAAGGAGCCATTGAAGGTTTTTGTTTGTTTGTTTGTTTGTTTTATTGAGATGGATTCTCACTCTGGTGCCTAGGCTGGAGTACAGATAATATAGTCTAAACTATATTGTTTAGACCACCTTCTCAAGTCACTTACCAGCTCATGTTGATTAACATGTCCTTTTGTCCCTTTCCCCATTTGCTGTCTGTTCTACAGATGTGAGGCTGGGGCTGAGGCAGCCATCTTGTGACCATGAGGAGCACAAAGATGGAAAGAATCTGGGTCTTCCACAGACCTCCTGCCTATGAGTCAATCTTGATCTAGCTAGTTTGAGTTTCTGCTGTTTTGCTAATAGAGTTTCTAGGACCTCAAGGAGAAGGTTGGAATATACTGGAATATACTGAGATGGAGTCCATCCCAGAAATTAGGATGGACAACCGGGACTAAGAGGGAATGTTCATTTTATGCATGCCAAACTCTACTCACAATGCAGCCCAAACAGCAAATTTAGCAAAAATTCCAGCCTGTACCCTTGGAGGATGGGCACCAAGGTTGGGCTGCTCCCACTTTTGTTTCTCAAGAATGACTATAAAAAAGCTTTTACAATTTTTGGCTGGATGGACCTTTAGGCACATTCCAAGTTCTTTTTTCCCGAGGTTTTGCCAGATATACTTTTATTTGTTTTTTATTTGTTTTTATTTGATTTTTAAAAAATCCTTAAGTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTGGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACTATCACACTTGGCTAATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCCGCCTCAAGTGATTCACCCACGTTGGCCTCCTAAAATGCTGGGATTACAGGCATCAGCCACCACACCTGGCCAAAAAAATCCTTAAGTTGTTCTAATACACGAACTTCCTAGTTAGCACTCAGGCCATACACACAATCAGGCCCACGTACCCAATTTCCAAGGTCTCTCCTCGAATCAGACGTAACTTCCGGAAGAAGGAAAGTGACACCAGAGCGTAGGATCGGCGGATTTTTAGATACCCTGAAATTTCTTCAATGAGGCCGAGGTTGGCTTCTAGCTCAGCTGCCAGATTGTCTAAGGAAAGGAGAGAATATCCAGTGGGTTTCTATAGACATATTTCAATCTTCTCATGATTCTCCATGGTGAGAAGATAACCCTCAGGCTGCAAATGACTGGACATACCCAGCTCAAAACTCATCATGCTTAGAACACAATCTGAAGTCCTTAGCATTCCTTAAATGGGTCAAG
Task1_train_26360
The gene INSR (insulin receptor) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Leprechaunism syndrome
GAGTTTAGAGACCCTGCAGATCATTAGACATCGGAGAGACGCATCTAAGTAATTCTCTCTGCCTAGAAGACAAACCCTCTCCTAAACCTCACCCCAACCTCGCTCTCTCTCCTTGCACTACATTTTTTTTGAGACAGTCTTGCTCTGTCACCAAGGCTGGAGTGCAGTCCACCTACCGGGTTTAAGCAATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCCACCACCACGTCCAGCTAGTTTTTGTATTTTTTTTTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTCCAGGCGTGAGCCACCATGCCCAGCCCTTGCACTACATTTTGACATAAGTAACTAACTCCCCATGAAGGTATCCCAGAAGCCCTTGGCAGCTCACTGTTTAGAATCTGTCAGGGAAGTGCAGTCAGCAGGCAGCCTGCAGCTGCAGAAACTGCAGGACCTGCTGTAGCATTCCAGCCAAAACCTGACTCTCCCTGGACAGCCCCCACCTATGACTGAGCTTGGTAGATGCCTGGCCGTCCCTTTGCAATGCAGAACTTCCCTGCAGACAACCGTGGCCTTGATCTCTTTCTGGGTTTGGCCAAGACTCAGGGATGCATCACCATCTGAGACTCTCCCAGCCCTATCCTCCCTCCTTCCCGCTCTCTGTTCACAGAGGTCAGACACACGCTATTGTCAAAAGGCTCTTCATGGCTGAGCGTGGTGACTCACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAATTAGCCGGGCTTGGTGGCATGTGCCTGTAATCCCAGCTATTCTGGAGGCTGAGGCGAGATAATTACCTGAACCCAGGGGAAGGAGGTTGCAGTGAGGCAAGATCACGCCACTGCACTCCAGCCCTGGGTGACAGAGCAAGACTCTGTCCCAAAAAAAAAAAAAAAAAAAAAAGAAGCTCTTCCTCTGTTTCATATTTTATGAATATTACCCTCAATACATTTTCTGCACTCCTAACTTCAACTTGGCAGTCACTTCCCAGGAGATGCAGACTGACATAGGTATTTTACTCAACTTTGAAGTCTTCAGCATCAGCCTGATACACATATAAGAAGGTGTCATCCATTCATCCATCATTCATTCATCCATTCATTCAGTGCTTGTATGACTTCATCCCGTATCCGGTACTATATGGCACAGTAAGCATAGTGATAATATTAATAAATGTGCAGAATCTGCCCTCAGTAAGAAAGCCTATCACACAGTGAGTTGTTAGAGGGAAGTAATACCCCCTGGGGGTGACTGTGATGGATGAGAGAGGACAGCCACATTATCTGGTTTGTGGACCACTTACAGCAGGGGTCCCCAGCCCCTGGGCCACAGACCAGTACTTATCCATGGCCTGTTACGAACAGGGCTGTACAGCAGGAGGTGAGTGATAGGTGAGCAAGTGAAGCTTCATCTGTATTTACAGTCACTCCCCATCGCTTGCATGACCACCTGAGTTCTGCCTCCTGTCAGATTAGCGGCGGCATTAGATTCTCACAGGGGTGTGAACCCTATTGTGAACTGTGTACATGAGGTACCTAGACTGCACACTCCTTATGAAAATCTAATGCCTGATGATCTGTCACTGTCTCCCATCACCCCCAGCTGGGACCATCTAGTTGCAGGAACACAAGCTCAGGGTTCCCATTGATTCTACATGATGGTGAGTTGTACAATTCTTTCATTATATATTACAATGTAATCATAATAGGAATAAAGTGCATAGTAAATGTAATGCACTTGAATCATGCTGAAACCATCCCCACCCACCACCAGTCCATGGAAAAACCATCTTCCACTACACCGGTCCCTCATGCCAAAAAGGTTGGGGACCAGTGACTTACAGGATGCCTGGTCCCCATTGGTCTTCAGGGCAATGTCGTTTCTCTCCTGGCGCCCCTTGGTTCCTGAAACTTCTTCCATCTTGTGGATTTCTGACAAGCAGAGTTTGGGGTTATAGTGGAAGAAGAGTTTCCCCTGAGTGATGGTGAGGTTGTGTTTGCTCCAGTCCCAGAGCTGCCTTAGGTTCTGGTTGTCCAAGGCATAGAAGGAGTAGTTCCTATGGAAAAAACACACACATCTAGTCATTCAACGGCTGGTCTTCTACAACTCCAAGATGGTGTGGCCATGCTCGGAGTTGATCTTGTTCAGTGCTACGTGCCTAATCCTCTCCACTTGCTTGGCACATACTCAACACATATTTGTTGAATGTGGATAACAGAGGAAGTTGAGGAAGTTTTCATGGCCAGGAAGGAGGCTCAGCTCAGTCTTGAAGAGGGGTGGTGAGTCTGTGATGGACTGAGGAATAGGTTTTGCAGAAACCAATTTCTGCAAATAGGGGAAATACTGATAACACAGAGGCACCTAAGCTGAGTTCAGGGAAGAGCAAAGTAGCCTGTTTTGGCCAATAGGTGACAGGAAATAGCTGTAGTTGCAATGGACCAGACCCTCTAGTATATTGCATGCCAGACCAAGACCAAGAACATGTGGCCATCCTTAATAAGGAGAAAGGAGCCATTGAAGGTTTTTGTTTGTTTGTTTGTTTGTTTTATTGAGATGGATTCTCACTCTGGTGCCTAGGCTGGAGTACAGATAATATAGTCTAAACTATATTGTTTAGACCACCTTCTCAAGTCACTTACCAGCTCATGTTGATTAACATGTCCTTTTGTCCCTTTCCCCATTTGCTGTCTGTTCTACAGATGTGAGGCTGGGGCTGAGGCAGCCATCTTGTGACCATGAGGAGCACAAAGATGGAAAGAATCTGGGTCTTCCACAGACCTCCTGCCTATGAGTCAATCTTGATCTAGCTAGTTTGAGTTTCTGCTGTTTTGCTAATAGAGTTTCTAGGACCTCAAGGAGAAGGTTGGAATATACTGGAATATACTGAGATGGAGTCCATCCCAGAAATTAGGATGGACAACCGGGACTAAGAGGGAATGTTCATTTTATGCATGCCAAACTCTACTCACAATGCAGCCCAAACAGCAAATTTAGCAAAAATTCCAGCCTGTACCCTTGGAGGATGGGCACCAAGGTTGGGCTGCTCCCACTTTTGTTTCTCAAGAATGACTATAAAAAAGCTTTTACAATTTTTGGCTGGATGGACCTTTAGGCACATTCCAAGTTCTTTTTTCCCGAGGTTTTGCCAGATATACTTTTATTTGTTTTTTATTTGTTTTTATTTGATTTTTAAAAAATCCTTAAGTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTGGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACTATCACACTTGGCTAATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCCGCCTCAAGTGATTCACCCACGTTGGCCTCCTAAAATGCTGGGATTACAGGCATCAGCCACCACACCTGGCCAAAAAAATCCTTAAGTTGTTCTAATACACGAACTTCCTAGTTAGCACTCAGGCCATACACACAATCAGGCCCACGTACCCAATTTCCAAGGTCTCTCCTCGAATCAGACGTAACTTCCGGAAGAAGGAAAGTGACACCAGAGCGTAGGATCGGCGGATTTTTAGATACCCTGAAATTTCTTCAATGAGGCCGAGGTTGGCTTCTAGCTCAGCTGCCAGATTGTCTAAGGAAAGGAGAGAATATCCAGTGGGTTTCTATAGACATATTTCAATCTTCTCATGATTCTCCATGGTGAGAAGATAACCCTCAGGCTGCAAATGACTGGACATACCCAGCTCAAAACTCATCATGCTTAGAACACAATCTGAAGTCCTTAGCATTCCTTAAATGGGTCAAG
GAGTTTAGAGACCCTGCAGATCATTAGACATCGGAGAGACGCATCTAAGTAATTCTCTCTGCCTAGAAGACAAACCCTCTCCTAAACCTCACCCCAACCTCGCTCTCTCTCCTTGCACTACATTTTTTTTGAGACAGTCTTGCTCTGTCACCAAGGCTGGAGTGCAGTCCACCTACCGGGTTTAAGCAATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCCACCACCACGTCCAGCTAGTTTTTGTATTTTTTTTTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTCCAGGCGTGAGCCACCATGCCCAGCCCTTGCACTACATTTTGACATAAGTAACTAACTCCCCATGAAGGTATCCCAGAAGCCCTTGGCAGCTCACTGTTTAGAATCTGTCAGGGAAGTGCAGTCAGCAGGCAGCCTGCAGCTGCAGAAACTGCAGGACCTGCTGTAGCATTCCAGCCAAAACCTGACTCTCCCTGGACAGCCCCCACCTATGACTGAGCTTGGTAGATGCCTGGCCGTCCCTTTGCAATGCAGAACTTCCCTGCAGACAACCGTGGCCTTGATCTCTTTCTGGGTTTGGCCAAGACTCAGGGATGCATCACCATCTGAGACTCTCCCAGCCCTATCCTCCCTCCTTCCCGCTCTCTGTTCACAGAGGTCAGACACACGCTATTGTCAAAAGGCTCTTCATGGCTGAGCGTGGTGACTCACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAATTAGCCGGGCTTGGTGGCATGTGCCTGTAATCCCAGCTATTCTGGAGGCTGAGGCGAGATAATTACCTGAACCCAGGGGAAGGAGGTTGCAGTGAGGCAAGATCACGCCACTGCACTCCAGCCCTGGGTGACAGAGCAAGACTCTGTCCCAAAAAAAAAAAAAAAAAAAAAAGAAGCTCTTCCTCTGTTTCATATTTTATGAATATTACCCTCAATACATTTTCTGCACTCCTAACTTCAACTTGGCAGTCACTTCCCAGGAGATGCAGACTGACATAGGTATTTTACTCAACTTTGAAGTCTTCAGCATCAGCCTGATACACATATAAGAAGGTGTCATCCATTCATCCATCATTCATTCATCCATTCATTCAGTGCTTGTATGACTTCATCCCGTATCCGGTACTATATGGCACAGTAAGCATAGTGATAATATTAATAAATGTGCAGAATCTGCCCTCAGTAAGAAAGCCTATCACACAGTGAGTTGTTAGAGGGAAGTAATACCCCCTGGGGGTGACTGTGATGGATGAGAGAGGACAGCCACATTATCTGGTTTGTGGACCACTTACAGCAGGGGTCCCCAGCCCCTGGGCCACAGACCAGTACTTATCCATGGCCTGTTACGAACAGGGCTGTACAGCAGGAGGTGAGTGATAGGTGAGCAAGTGAAGCTTCATCTGTATTTACAGTCACTCCCCATCGCTTGCATGACCACCTGAGTTCTGCCTCCTGTCAGATTAGCGGCGGCATTAGATTCTCACAGGGGTGTGAACCCTATTGTGAACTGTGTACATGAGGTACCTAGACTGCACACTCCTTATGAAAATCTAATGCCTGATGATCTGTCACTGTCTCCCATCACCCCCAGCTGGGACCATCTAGTTGCAGGAACACAAGCTCAGGGTTCCCATTGATTCTACATGATGGTGAGTTGTACAATTCTTTCATTATATATTACAATGTAATCATAATAGGAATAAAGTGCATAGTAAATGTAATGCACTTGAATCATGCTGAAACCATCCCCACCCACCACCAGTCCATGGAAAAACCATCTTCCACTACACCGGTCCCTCATGCCAAAAAGGTTGGGGACCAGTGACTTACAGGATGCCTGGTCCCCATTGGTCTCCAGGGCAATGTCGTTTCTCTCCTGGCGCCCCTTGGTTCCTGAAACTTCTTCCATCTTGTGGATTTCTGACAAGCAGAGTTTGGGGTTATAGTGGAAGAAGAGTTTCCCCTGAGTGATGGTGAGGTTGTGTTTGCTCCAGTCCCAGAGCTGCCTTAGGTTCTGGTTGTCCAAGGCATAGAAGGAGTAGTTCCTATGGAAAAAACACACACATCTAGTCATTCAACGGCTGGTCTTCTACAACTCCAAGATGGTGTGGCCATGCTCGGAGTTGATCTTGTTCAGTGCTACGTGCCTAATCCTCTCCACTTGCTTGGCACATACTCAACACATATTTGTTGAATGTGGATAACAGAGGAAGTTGAGGAAGTTTTCATGGCCAGGAAGGAGGCTCAGCTCAGTCTTGAAGAGGGGTGGTGAGTCTGTGATGGACTGAGGAATAGGTTTTGCAGAAACCAATTTCTGCAAATAGGGGAAATACTGATAACACAGAGGCACCTAAGCTGAGTTCAGGGAAGAGCAAAGTAGCCTGTTTTGGCCAATAGGTGACAGGAAATAGCTGTAGTTGCAATGGACCAGACCCTCTAGTATATTGCATGCCAGACCAAGACCAAGAACATGTGGCCATCCTTAATAAGGAGAAAGGAGCCATTGAAGGTTTTTGTTTGTTTGTTTGTTTGTTTTATTGAGATGGATTCTCACTCTGGTGCCTAGGCTGGAGTACAGATAATATAGTCTAAACTATATTGTTTAGACCACCTTCTCAAGTCACTTACCAGCTCATGTTGATTAACATGTCCTTTTGTCCCTTTCCCCATTTGCTGTCTGTTCTACAGATGTGAGGCTGGGGCTGAGGCAGCCATCTTGTGACCATGAGGAGCACAAAGATGGAAAGAATCTGGGTCTTCCACAGACCTCCTGCCTATGAGTCAATCTTGATCTAGCTAGTTTGAGTTTCTGCTGTTTTGCTAATAGAGTTTCTAGGACCTCAAGGAGAAGGTTGGAATATACTGGAATATACTGAGATGGAGTCCATCCCAGAAATTAGGATGGACAACCGGGACTAAGAGGGAATGTTCATTTTATGCATGCCAAACTCTACTCACAATGCAGCCCAAACAGCAAATTTAGCAAAAATTCCAGCCTGTACCCTTGGAGGATGGGCACCAAGGTTGGGCTGCTCCCACTTTTGTTTCTCAAGAATGACTATAAAAAAGCTTTTACAATTTTTGGCTGGATGGACCTTTAGGCACATTCCAAGTTCTTTTTTCCCGAGGTTTTGCCAGATATACTTTTATTTGTTTTTTATTTGTTTTTATTTGATTTTTAAAAAATCCTTAAGTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTGGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACTATCACACTTGGCTAATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCCGCCTCAAGTGATTCACCCACGTTGGCCTCCTAAAATGCTGGGATTACAGGCATCAGCCACCACACCTGGCCAAAAAAATCCTTAAGTTGTTCTAATACACGAACTTCCTAGTTAGCACTCAGGCCATACACACAATCAGGCCCACGTACCCAATTTCCAAGGTCTCTCCTCGAATCAGACGTAACTTCCGGAAGAAGGAAAGTGACACCAGAGCGTAGGATCGGCGGATTTTTAGATACCCTGAAATTTCTTCAATGAGGCCGAGGTTGGCTTCTAGCTCAGCTGCCAGATTGTCTAAGGAAAGGAGAGAATATCCAGTGGGTTTCTATAGACATATTTCAATCTTCTCATGATTCTCCATGGTGAGAAGATAACCCTCAGGCTGCAAATGACTGGACATACCCAGCTCAAAACTCATCATGCTTAGAACACAATCTGAAGTCCTTAGCATTCCTTAAATGGGTCAAG
Task1_train_26361
An alteration has been detected in INSR (insulin receptor) on Chromosome 19. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Leprechaunism syndrome
CTCACCCCAACCTCGCTCTCTCTCCTTGCACTACATTTTTTTTGAGACAGTCTTGCTCTGTCACCAAGGCTGGAGTGCAGTCCACCTACCGGGTTTAAGCAATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCCACCACCACGTCCAGCTAGTTTTTGTATTTTTTTTTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTCCAGGCGTGAGCCACCATGCCCAGCCCTTGCACTACATTTTGACATAAGTAACTAACTCCCCATGAAGGTATCCCAGAAGCCCTTGGCAGCTCACTGTTTAGAATCTGTCAGGGAAGTGCAGTCAGCAGGCAGCCTGCAGCTGCAGAAACTGCAGGACCTGCTGTAGCATTCCAGCCAAAACCTGACTCTCCCTGGACAGCCCCCACCTATGACTGAGCTTGGTAGATGCCTGGCCGTCCCTTTGCAATGCAGAACTTCCCTGCAGACAACCGTGGCCTTGATCTCTTTCTGGGTTTGGCCAAGACTCAGGGATGCATCACCATCTGAGACTCTCCCAGCCCTATCCTCCCTCCTTCCCGCTCTCTGTTCACAGAGGTCAGACACACGCTATTGTCAAAAGGCTCTTCATGGCTGAGCGTGGTGACTCACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAATTAGCCGGGCTTGGTGGCATGTGCCTGTAATCCCAGCTATTCTGGAGGCTGAGGCGAGATAATTACCTGAACCCAGGGGAAGGAGGTTGCAGTGAGGCAAGATCACGCCACTGCACTCCAGCCCTGGGTGACAGAGCAAGACTCTGTCCCAAAAAAAAAAAAAAAAAAAAAAGAAGCTCTTCCTCTGTTTCATATTTTATGAATATTACCCTCAATACATTTTCTGCACTCCTAACTTCAACTTGGCAGTCACTTCCCAGGAGATGCAGACTGACATAGGTATTTTACTCAACTTTGAAGTCTTCAGCATCAGCCTGATACACATATAAGAAGGTGTCATCCATTCATCCATCATTCATTCATCCATTCATTCAGTGCTTGTATGACTTCATCCCGTATCCGGTACTATATGGCACAGTAAGCATAGTGATAATATTAATAAATGTGCAGAATCTGCCCTCAGTAAGAAAGCCTATCACACAGTGAGTTGTTAGAGGGAAGTAATACCCCCTGGGGGTGACTGTGATGGATGAGAGAGGACAGCCACATTATCTGGTTTGTGGACCACTTACAGCAGGGGTCCCCAGCCCCTGGGCCACAGACCAGTACTTATCCATGGCCTGTTACGAACAGGGCTGTACAGCAGGAGGTGAGTGATAGGTGAGCAAGTGAAGCTTCATCTGTATTTACAGTCACTCCCCATCGCTTGCATGACCACCTGAGTTCTGCCTCCTGTCAGATTAGCGGCGGCATTAGATTCTCACAGGGGTGTGAACCCTATTGTGAACTGTGTACATGAGGTACCTAGACTGCACACTCCTTATGAAAATCTAATGCCTGATGATCTGTCACTGTCTCCCATCACCCCCAGCTGGGACCATCTAGTTGCAGGAACACAAGCTCAGGGTTCCCATTGATTCTACATGATGGTGAGTTGTACAATTCTTTCATTATATATTACAATGTAATCATAATAGGAATAAAGTGCATAGTAAATGTAATGCACTTGAATCATGCTGAAACCATCCCCACCCACCACCAGTCCATGGAAAAACCATCTTCCACTACACCGGTCCCTCATGCCAAAAAGGTTGGGGACCAGTGACTTACAGGATGCCTGGTCCCCATTGGTCTTCAGGGCAATGTCGTTTCTCTCCTGGCGCCCCTTGGTTCCTGAAACTTCTTCCATCTTGTGGATTTCTGACAAGCAGAGTTTGGGGTTATAGTGGAAGAAGAGTTTCCCCTGAGTGATGGTGAGGTTGTGTTTGCTCCAGTCCCAGAGCTGCCTTAGGTTCTGGTTGTCCAAGGCATAGAAGGAGTAGTTCCTATGGAAAAAACACACACATCTAGTCATTCAACGGCTGGTCTTCTACAACTCCAAGATGGTGTGGCCATGCTCGGAGTTGATCTTGTTCAGTGCTACGTGCCTAATCCTCTCCACTTGCTTGGCACATACTCAACACATATTTGTTGAATGTGGATAACAGAGGAAGTTGAGGAAGTTTTCATGGCCAGGAAGGAGGCTCAGCTCAGTCTTGAAGAGGGGTGGTGAGTCTGTGATGGACTGAGGAATAGGTTTTGCAGAAACCAATTTCTGCAAATAGGGGAAATACTGATAACACAGAGGCACCTAAGCTGAGTTCAGGGAAGAGCAAAGTAGCCTGTTTTGGCCAATAGGTGACAGGAAATAGCTGTAGTTGCAATGGACCAGACCCTCTAGTATATTGCATGCCAGACCAAGACCAAGAACATGTGGCCATCCTTAATAAGGAGAAAGGAGCCATTGAAGGTTTTTGTTTGTTTGTTTGTTTGTTTTATTGAGATGGATTCTCACTCTGGTGCCTAGGCTGGAGTACAGATAATATAGTCTAAACTATATTGTTTAGACCACCTTCTCAAGTCACTTACCAGCTCATGTTGATTAACATGTCCTTTTGTCCCTTTCCCCATTTGCTGTCTGTTCTACAGATGTGAGGCTGGGGCTGAGGCAGCCATCTTGTGACCATGAGGAGCACAAAGATGGAAAGAATCTGGGTCTTCCACAGACCTCCTGCCTATGAGTCAATCTTGATCTAGCTAGTTTGAGTTTCTGCTGTTTTGCTAATAGAGTTTCTAGGACCTCAAGGAGAAGGTTGGAATATACTGGAATATACTGAGATGGAGTCCATCCCAGAAATTAGGATGGACAACCGGGACTAAGAGGGAATGTTCATTTTATGCATGCCAAACTCTACTCACAATGCAGCCCAAACAGCAAATTTAGCAAAAATTCCAGCCTGTACCCTTGGAGGATGGGCACCAAGGTTGGGCTGCTCCCACTTTTGTTTCTCAAGAATGACTATAAAAAAGCTTTTACAATTTTTGGCTGGATGGACCTTTAGGCACATTCCAAGTTCTTTTTTCCCGAGGTTTTGCCAGATATACTTTTATTTGTTTTTTATTTGTTTTTATTTGATTTTTAAAAAATCCTTAAGTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTGGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACTATCACACTTGGCTAATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCCGCCTCAAGTGATTCACCCACGTTGGCCTCCTAAAATGCTGGGATTACAGGCATCAGCCACCACACCTGGCCAAAAAAATCCTTAAGTTGTTCTAATACACGAACTTCCTAGTTAGCACTCAGGCCATACACACAATCAGGCCCACGTACCCAATTTCCAAGGTCTCTCCTCGAATCAGACGTAACTTCCGGAAGAAGGAAAGTGACACCAGAGCGTAGGATCGGCGGATTTTTAGATACCCTGAAATTTCTTCAATGAGGCCGAGGTTGGCTTCTAGCTCAGCTGCCAGATTGTCTAAGGAAAGGAGAGAATATCCAGTGGGTTTCTATAGACATATTTCAATCTTCTCATGATTCTCCATGGTGAGAAGATAACCCTCAGGCTGCAAATGACTGGACATACCCAGCTCAAAACTCATCATGCTTAGAACACAATCTGAAGTCCTTAGCATTCCTTAAATGGGTCAAGCATACTTCTGCCCCAGGACCTTGGCACTGGCTGCGTCTGTTGCTCAGAATATTATTCCACCATATATCTCCTTGGCTTGTTCCATCA
CTCACCCCAACCTCGCTCTCTCTCCTTGCACTACATTTTTTTTGAGACAGTCTTGCTCTGTCACCAAGGCTGGAGTGCAGTCCACCTACCGGGTTTAAGCAATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCCACCACCACGTCCAGCTAGTTTTTGTATTTTTTTTTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTCCAGGCGTGAGCCACCATGCCCAGCCCTTGCACTACATTTTGACATAAGTAACTAACTCCCCATGAAGGTATCCCAGAAGCCCTTGGCAGCTCACTGTTTAGAATCTGTCAGGGAAGTGCAGTCAGCAGGCAGCCTGCAGCTGCAGAAACTGCAGGACCTGCTGTAGCATTCCAGCCAAAACCTGACTCTCCCTGGACAGCCCCCACCTATGACTGAGCTTGGTAGATGCCTGGCCGTCCCTTTGCAATGCAGAACTTCCCTGCAGACAACCGTGGCCTTGATCTCTTTCTGGGTTTGGCCAAGACTCAGGGATGCATCACCATCTGAGACTCTCCCAGCCCTATCCTCCCTCCTTCCCGCTCTCTGTTCACAGAGGTCAGACACACGCTATTGTCAAAAGGCTCTTCATGGCTGAGCGTGGTGACTCACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAATTAGCCGGGCTTGGTGGCATGTGCCTGTAATCCCAGCTATTCTGGAGGCTGAGGCGAGATAATTACCTGAACCCAGGGGAAGGAGGTTGCAGTGAGGCAAGATCACGCCACTGCACTCCAGCCCTGGGTGACAGAGCAAGACTCTGTCCCAAAAAAAAAAAAAAAAAAAAAAGAAGCTCTTCCTCTGTTTCATATTTTATGAATATTACCCTCAATACATTTTCTGCACTCCTAACTTCAACTTGGCAGTCACTTCCCAGGAGATGCAGACTGACATAGGTATTTTACTCAACTTTGAAGTCTTCAGCATCAGCCTGATACACATATAAGAAGGTGTCATCCATTCATCCATCATTCATTCATCCATTCATTCAGTGCTTGTATGACTTCATCCCGTATCCGGTACTATATGGCACAGTAAGCATAGTGATAATATTAATAAATGTGCAGAATCTGCCCTCAGTAAGAAAGCCTATCACACAGTGAGTTGTTAGAGGGAAGTAATACCCCCTGGGGGTGACTGTGATGGATGAGAGAGGACAGCCACATTATCTGGTTTGTGGACCACTTACAGCAGGGGTCCCCAGCCCCTGGGCCACAGACCAGTACTTATCCATGGCCTGTTACGAACAGGGCTGTACAGCAGGAGGTGAGTGATAGGTGAGCAAGTGAAGCTTCATCTGTATTTACAGTCACTCCCCATCGCTTGCATGACCACCTGAGTTCTGCCTCCTGTCAGATTAGCGGCGGCATTAGATTCTCACAGGGGTGTGAACCCTATTGTGAACTGTGTACATGAGGTACCTAGACTGCACACTCCTTATGAAAATCTAATGCCTGATGATCTGTCACTGTCTCCCATCACCCCCAGCTGGGACCATCTAGTTGCAGGAACACAAGCTCAGGGTTCCCATTGATTCTACATGATGGTGAGTTGTACAATTCTTTCATTATATATTACAATGTAATCATAATAGGAATAAAGTGCATAGTAAATGTAATGCACTTGAATCATGCTGAAACCATCCCCACCCACCACCAGTCCATGGAAAAACCATCTTCCACTACACCGGTCCCTCATGCCAAAAAGGTTGGGGACCAGTGACTTACAGGATGCCTGGTCCCCATTGGTCTTCAGGGCAATGTCGTTTCTCTCCTGGCGCCCCTTGGTTCCTGAAACTTCTTCCATCTTGTGGATTTCTGACAAGCAGAGTTTGGGGTCATAGTGGAAGAAGAGTTTCCCCTGAGTGATGGTGAGGTTGTGTTTGCTCCAGTCCCAGAGCTGCCTTAGGTTCTGGTTGTCCAAGGCATAGAAGGAGTAGTTCCTATGGAAAAAACACACACATCTAGTCATTCAACGGCTGGTCTTCTACAACTCCAAGATGGTGTGGCCATGCTCGGAGTTGATCTTGTTCAGTGCTACGTGCCTAATCCTCTCCACTTGCTTGGCACATACTCAACACATATTTGTTGAATGTGGATAACAGAGGAAGTTGAGGAAGTTTTCATGGCCAGGAAGGAGGCTCAGCTCAGTCTTGAAGAGGGGTGGTGAGTCTGTGATGGACTGAGGAATAGGTTTTGCAGAAACCAATTTCTGCAAATAGGGGAAATACTGATAACACAGAGGCACCTAAGCTGAGTTCAGGGAAGAGCAAAGTAGCCTGTTTTGGCCAATAGGTGACAGGAAATAGCTGTAGTTGCAATGGACCAGACCCTCTAGTATATTGCATGCCAGACCAAGACCAAGAACATGTGGCCATCCTTAATAAGGAGAAAGGAGCCATTGAAGGTTTTTGTTTGTTTGTTTGTTTGTTTTATTGAGATGGATTCTCACTCTGGTGCCTAGGCTGGAGTACAGATAATATAGTCTAAACTATATTGTTTAGACCACCTTCTCAAGTCACTTACCAGCTCATGTTGATTAACATGTCCTTTTGTCCCTTTCCCCATTTGCTGTCTGTTCTACAGATGTGAGGCTGGGGCTGAGGCAGCCATCTTGTGACCATGAGGAGCACAAAGATGGAAAGAATCTGGGTCTTCCACAGACCTCCTGCCTATGAGTCAATCTTGATCTAGCTAGTTTGAGTTTCTGCTGTTTTGCTAATAGAGTTTCTAGGACCTCAAGGAGAAGGTTGGAATATACTGGAATATACTGAGATGGAGTCCATCCCAGAAATTAGGATGGACAACCGGGACTAAGAGGGAATGTTCATTTTATGCATGCCAAACTCTACTCACAATGCAGCCCAAACAGCAAATTTAGCAAAAATTCCAGCCTGTACCCTTGGAGGATGGGCACCAAGGTTGGGCTGCTCCCACTTTTGTTTCTCAAGAATGACTATAAAAAAGCTTTTACAATTTTTGGCTGGATGGACCTTTAGGCACATTCCAAGTTCTTTTTTCCCGAGGTTTTGCCAGATATACTTTTATTTGTTTTTTATTTGTTTTTATTTGATTTTTAAAAAATCCTTAAGTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTGGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACTATCACACTTGGCTAATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCCGCCTCAAGTGATTCACCCACGTTGGCCTCCTAAAATGCTGGGATTACAGGCATCAGCCACCACACCTGGCCAAAAAAATCCTTAAGTTGTTCTAATACACGAACTTCCTAGTTAGCACTCAGGCCATACACACAATCAGGCCCACGTACCCAATTTCCAAGGTCTCTCCTCGAATCAGACGTAACTTCCGGAAGAAGGAAAGTGACACCAGAGCGTAGGATCGGCGGATTTTTAGATACCCTGAAATTTCTTCAATGAGGCCGAGGTTGGCTTCTAGCTCAGCTGCCAGATTGTCTAAGGAAAGGAGAGAATATCCAGTGGGTTTCTATAGACATATTTCAATCTTCTCATGATTCTCCATGGTGAGAAGATAACCCTCAGGCTGCAAATGACTGGACATACCCAGCTCAAAACTCATCATGCTTAGAACACAATCTGAAGTCCTTAGCATTCCTTAAATGGGTCAAGCATACTTCTGCCCCAGGACCTTGGCACTGGCTGCGTCTGTTGCTCAGAATATTATTCCACCATATATCTCCTTGGCTTGTTCCATCA
Task1_train_26362
This variant lies on Chromosome 19 and affects the gene INSR (insulin receptor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Leprechaunism syndrome
TCTGTCACCAAGGCTGGAGTGCAGTCCACCTACCGGGTTTAAGCAATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCCACCACCACGTCCAGCTAGTTTTTGTATTTTTTTTTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTCCAGGCGTGAGCCACCATGCCCAGCCCTTGCACTACATTTTGACATAAGTAACTAACTCCCCATGAAGGTATCCCAGAAGCCCTTGGCAGCTCACTGTTTAGAATCTGTCAGGGAAGTGCAGTCAGCAGGCAGCCTGCAGCTGCAGAAACTGCAGGACCTGCTGTAGCATTCCAGCCAAAACCTGACTCTCCCTGGACAGCCCCCACCTATGACTGAGCTTGGTAGATGCCTGGCCGTCCCTTTGCAATGCAGAACTTCCCTGCAGACAACCGTGGCCTTGATCTCTTTCTGGGTTTGGCCAAGACTCAGGGATGCATCACCATCTGAGACTCTCCCAGCCCTATCCTCCCTCCTTCCCGCTCTCTGTTCACAGAGGTCAGACACACGCTATTGTCAAAAGGCTCTTCATGGCTGAGCGTGGTGACTCACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAATTAGCCGGGCTTGGTGGCATGTGCCTGTAATCCCAGCTATTCTGGAGGCTGAGGCGAGATAATTACCTGAACCCAGGGGAAGGAGGTTGCAGTGAGGCAAGATCACGCCACTGCACTCCAGCCCTGGGTGACAGAGCAAGACTCTGTCCCAAAAAAAAAAAAAAAAAAAAAAGAAGCTCTTCCTCTGTTTCATATTTTATGAATATTACCCTCAATACATTTTCTGCACTCCTAACTTCAACTTGGCAGTCACTTCCCAGGAGATGCAGACTGACATAGGTATTTTACTCAACTTTGAAGTCTTCAGCATCAGCCTGATACACATATAAGAAGGTGTCATCCATTCATCCATCATTCATTCATCCATTCATTCAGTGCTTGTATGACTTCATCCCGTATCCGGTACTATATGGCACAGTAAGCATAGTGATAATATTAATAAATGTGCAGAATCTGCCCTCAGTAAGAAAGCCTATCACACAGTGAGTTGTTAGAGGGAAGTAATACCCCCTGGGGGTGACTGTGATGGATGAGAGAGGACAGCCACATTATCTGGTTTGTGGACCACTTACAGCAGGGGTCCCCAGCCCCTGGGCCACAGACCAGTACTTATCCATGGCCTGTTACGAACAGGGCTGTACAGCAGGAGGTGAGTGATAGGTGAGCAAGTGAAGCTTCATCTGTATTTACAGTCACTCCCCATCGCTTGCATGACCACCTGAGTTCTGCCTCCTGTCAGATTAGCGGCGGCATTAGATTCTCACAGGGGTGTGAACCCTATTGTGAACTGTGTACATGAGGTACCTAGACTGCACACTCCTTATGAAAATCTAATGCCTGATGATCTGTCACTGTCTCCCATCACCCCCAGCTGGGACCATCTAGTTGCAGGAACACAAGCTCAGGGTTCCCATTGATTCTACATGATGGTGAGTTGTACAATTCTTTCATTATATATTACAATGTAATCATAATAGGAATAAAGTGCATAGTAAATGTAATGCACTTGAATCATGCTGAAACCATCCCCACCCACCACCAGTCCATGGAAAAACCATCTTCCACTACACCGGTCCCTCATGCCAAAAAGGTTGGGGACCAGTGACTTACAGGATGCCTGGTCCCCATTGGTCTTCAGGGCAATGTCGTTTCTCTCCTGGCGCCCCTTGGTTCCTGAAACTTCTTCCATCTTGTGGATTTCTGACAAGCAGAGTTTGGGGTTATAGTGGAAGAAGAGTTTCCCCTGAGTGATGGTGAGGTTGTGTTTGCTCCAGTCCCAGAGCTGCCTTAGGTTCTGGTTGTCCAAGGCATAGAAGGAGTAGTTCCTATGGAAAAAACACACACATCTAGTCATTCAACGGCTGGTCTTCTACAACTCCAAGATGGTGTGGCCATGCTCGGAGTTGATCTTGTTCAGTGCTACGTGCCTAATCCTCTCCACTTGCTTGGCACATACTCAACACATATTTGTTGAATGTGGATAACAGAGGAAGTTGAGGAAGTTTTCATGGCCAGGAAGGAGGCTCAGCTCAGTCTTGAAGAGGGGTGGTGAGTCTGTGATGGACTGAGGAATAGGTTTTGCAGAAACCAATTTCTGCAAATAGGGGAAATACTGATAACACAGAGGCACCTAAGCTGAGTTCAGGGAAGAGCAAAGTAGCCTGTTTTGGCCAATAGGTGACAGGAAATAGCTGTAGTTGCAATGGACCAGACCCTCTAGTATATTGCATGCCAGACCAAGACCAAGAACATGTGGCCATCCTTAATAAGGAGAAAGGAGCCATTGAAGGTTTTTGTTTGTTTGTTTGTTTGTTTTATTGAGATGGATTCTCACTCTGGTGCCTAGGCTGGAGTACAGATAATATAGTCTAAACTATATTGTTTAGACCACCTTCTCAAGTCACTTACCAGCTCATGTTGATTAACATGTCCTTTTGTCCCTTTCCCCATTTGCTGTCTGTTCTACAGATGTGAGGCTGGGGCTGAGGCAGCCATCTTGTGACCATGAGGAGCACAAAGATGGAAAGAATCTGGGTCTTCCACAGACCTCCTGCCTATGAGTCAATCTTGATCTAGCTAGTTTGAGTTTCTGCTGTTTTGCTAATAGAGTTTCTAGGACCTCAAGGAGAAGGTTGGAATATACTGGAATATACTGAGATGGAGTCCATCCCAGAAATTAGGATGGACAACCGGGACTAAGAGGGAATGTTCATTTTATGCATGCCAAACTCTACTCACAATGCAGCCCAAACAGCAAATTTAGCAAAAATTCCAGCCTGTACCCTTGGAGGATGGGCACCAAGGTTGGGCTGCTCCCACTTTTGTTTCTCAAGAATGACTATAAAAAAGCTTTTACAATTTTTGGCTGGATGGACCTTTAGGCACATTCCAAGTTCTTTTTTCCCGAGGTTTTGCCAGATATACTTTTATTTGTTTTTTATTTGTTTTTATTTGATTTTTAAAAAATCCTTAAGTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTGGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACTATCACACTTGGCTAATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCCGCCTCAAGTGATTCACCCACGTTGGCCTCCTAAAATGCTGGGATTACAGGCATCAGCCACCACACCTGGCCAAAAAAATCCTTAAGTTGTTCTAATACACGAACTTCCTAGTTAGCACTCAGGCCATACACACAATCAGGCCCACGTACCCAATTTCCAAGGTCTCTCCTCGAATCAGACGTAACTTCCGGAAGAAGGAAAGTGACACCAGAGCGTAGGATCGGCGGATTTTTAGATACCCTGAAATTTCTTCAATGAGGCCGAGGTTGGCTTCTAGCTCAGCTGCCAGATTGTCTAAGGAAAGGAGAGAATATCCAGTGGGTTTCTATAGACATATTTCAATCTTCTCATGATTCTCCATGGTGAGAAGATAACCCTCAGGCTGCAAATGACTGGACATACCCAGCTCAAAACTCATCATGCTTAGAACACAATCTGAAGTCCTTAGCATTCCTTAAATGGGTCAAGCATACTTCTGCCCCAGGACCTTGGCACTGGCTGCGTCTGTTGCTCAGAATATTATTCCACCATATATCTCCTTGGCTTGTTCCATCATCATCTCAAACCCTCCTTTCCCATACCAGAGACTTCTCTAAAATAGCAACCCCCAG
TCTGTCACCAAGGCTGGAGTGCAGTCCACCTACCGGGTTTAAGCAATTCTCATGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCCACCACCACGTCCAGCTAGTTTTTGTATTTTTTTTTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAGAGTGCTGGGATTCCAGGCGTGAGCCACCATGCCCAGCCCTTGCACTACATTTTGACATAAGTAACTAACTCCCCATGAAGGTATCCCAGAAGCCCTTGGCAGCTCACTGTTTAGAATCTGTCAGGGAAGTGCAGTCAGCAGGCAGCCTGCAGCTGCAGAAACTGCAGGACCTGCTGTAGCATTCCAGCCAAAACCTGACTCTCCCTGGACAGCCCCCACCTATGACTGAGCTTGGTAGATGCCTGGCCGTCCCTTTGCAATGCAGAACTTCCCTGCAGACAACCGTGGCCTTGATCTCTTTCTGGGTTTGGCCAAGACTCAGGGATGCATCACCATCTGAGACTCTCCCAGCCCTATCCTCCCTCCTTCCCGCTCTCTGTTCACAGAGGTCAGACACACGCTATTGTCAAAAGGCTCTTCATGGCTGAGCGTGGTGACTCACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAATTAGCCGGGCTTGGTGGCATGTGCCTGTAATCCCAGCTATTCTGGAGGCTGAGGCGAGATAATTACCTGAACCCAGGGGAAGGAGGTTGCAGTGAGGCAAGATCACGCCACTGCACTCCAGCCCTGGGTGACAGAGCAAGACTCTGTCCCAAAAAAAAAAAAAAAAAAAAAAGAAGCTCTTCCTCTGTTTCATATTTTATGAATATTACCCTCAATACATTTTCTGCACTCCTAACTTCAACTTGGCAGTCACTTCCCAGGAGATGCAGACTGACATAGGTATTTTACTCAACTTTGAAGTCTTCAGCATCAGCCTGATACACATATAAGAAGGTGTCATCCATTCATCCATCATTCATTCATCCATTCATTCAGTGCTTGTATGACTTCATCCCGTATCCGGTACTATATGGCACAGTAAGCATAGTGATAATATTAATAAATGTGCAGAATCTGCCCTCAGTAAGAAAGCCTATCACACAGTGAGTTGTTAGAGGGAAGTAATACCCCCTGGGGGTGACTGTGATGGATGAGAGAGGACAGCCACATTATCTGGTTTGTGGACCACTTACAGCAGGGGTCCCCAGCCCCTGGGCCACAGACCAGTACTTATCCATGGCCTGTTACGAACAGGGCTGTACAGCAGGAGGTGAGTGATAGGTGAGCAAGTGAAGCTTCATCTGTATTTACAGTCACTCCCCATCGCTTGCATGACCACCTGAGTTCTGCCTCCTGTCAGATTAGCGGCGGCATTAGATTCTCACAGGGGTGTGAACCCTATTGTGAACTGTGTACATGAGGTACCTAGACTGCACACTCCTTATGAAAATCTAATGCCTGATGATCTGTCACTGTCTCCCATCACCCCCAGCTGGGACCATCTAGTTGCAGGAACACAAGCTCAGGGTTCCCATTGATTCTACATGATGGTGAGTTGTACAATTCTTTCATTATATATTACAATGTAATCATAATAGGAATAAAGTGCATAGTAAATGTAATGCACTTGAATCATGCTGAAACCATCCCCACCCACCACCAGTCCATGGAAAAACCATCTTCCACTACACCGGTCCCTCATGCCAAAAAGGTTGGGGACCAGTGACTTACAGGATGCCTGGTCCCCATTGGTCTTCAGGGCAATGTCGTTTCTCTCCTGGCGCCCCTTGGTTCCTGAAACTTCTTCCATCTTGTGGATTTCTGACAAGCAGAGTTTGGGGTTATAGTGGAAGAAGAGTTTCCCCTGAGTGATGGTGAGGTTGTGTTTGCTCCAGTCCGAGAGCTGCCTTAGGTTCTGGTTGTCCAAGGCATAGAAGGAGTAGTTCCTATGGAAAAAACACACACATCTAGTCATTCAACGGCTGGTCTTCTACAACTCCAAGATGGTGTGGCCATGCTCGGAGTTGATCTTGTTCAGTGCTACGTGCCTAATCCTCTCCACTTGCTTGGCACATACTCAACACATATTTGTTGAATGTGGATAACAGAGGAAGTTGAGGAAGTTTTCATGGCCAGGAAGGAGGCTCAGCTCAGTCTTGAAGAGGGGTGGTGAGTCTGTGATGGACTGAGGAATAGGTTTTGCAGAAACCAATTTCTGCAAATAGGGGAAATACTGATAACACAGAGGCACCTAAGCTGAGTTCAGGGAAGAGCAAAGTAGCCTGTTTTGGCCAATAGGTGACAGGAAATAGCTGTAGTTGCAATGGACCAGACCCTCTAGTATATTGCATGCCAGACCAAGACCAAGAACATGTGGCCATCCTTAATAAGGAGAAAGGAGCCATTGAAGGTTTTTGTTTGTTTGTTTGTTTGTTTTATTGAGATGGATTCTCACTCTGGTGCCTAGGCTGGAGTACAGATAATATAGTCTAAACTATATTGTTTAGACCACCTTCTCAAGTCACTTACCAGCTCATGTTGATTAACATGTCCTTTTGTCCCTTTCCCCATTTGCTGTCTGTTCTACAGATGTGAGGCTGGGGCTGAGGCAGCCATCTTGTGACCATGAGGAGCACAAAGATGGAAAGAATCTGGGTCTTCCACAGACCTCCTGCCTATGAGTCAATCTTGATCTAGCTAGTTTGAGTTTCTGCTGTTTTGCTAATAGAGTTTCTAGGACCTCAAGGAGAAGGTTGGAATATACTGGAATATACTGAGATGGAGTCCATCCCAGAAATTAGGATGGACAACCGGGACTAAGAGGGAATGTTCATTTTATGCATGCCAAACTCTACTCACAATGCAGCCCAAACAGCAAATTTAGCAAAAATTCCAGCCTGTACCCTTGGAGGATGGGCACCAAGGTTGGGCTGCTCCCACTTTTGTTTCTCAAGAATGACTATAAAAAAGCTTTTACAATTTTTGGCTGGATGGACCTTTAGGCACATTCCAAGTTCTTTTTTCCCGAGGTTTTGCCAGATATACTTTTATTTGTTTTTTATTTGTTTTTATTTGATTTTTAAAAAATCCTTAAGTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTGGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACTATCACACTTGGCTAATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCCGCCTCAAGTGATTCACCCACGTTGGCCTCCTAAAATGCTGGGATTACAGGCATCAGCCACCACACCTGGCCAAAAAAATCCTTAAGTTGTTCTAATACACGAACTTCCTAGTTAGCACTCAGGCCATACACACAATCAGGCCCACGTACCCAATTTCCAAGGTCTCTCCTCGAATCAGACGTAACTTCCGGAAGAAGGAAAGTGACACCAGAGCGTAGGATCGGCGGATTTTTAGATACCCTGAAATTTCTTCAATGAGGCCGAGGTTGGCTTCTAGCTCAGCTGCCAGATTGTCTAAGGAAAGGAGAGAATATCCAGTGGGTTTCTATAGACATATTTCAATCTTCTCATGATTCTCCATGGTGAGAAGATAACCCTCAGGCTGCAAATGACTGGACATACCCAGCTCAAAACTCATCATGCTTAGAACACAATCTGAAGTCCTTAGCATTCCTTAAATGGGTCAAGCATACTTCTGCCCCAGGACCTTGGCACTGGCTGCGTCTGTTGCTCAGAATATTATTCCACCATATATCTCCTTGGCTTGTTCCATCATCATCTCAAACCCTCCTTTCCCATACCAGAGACTTCTCTAAAATAGCAACCCCCAG
Task1_train_26363
The gene INSR (insulin receptor) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Insulin-resistant diabetes mellitus
CCATCACCCCCAGCTGGGACCATCTAGTTGCAGGAACACAAGCTCAGGGTTCCCATTGATTCTACATGATGGTGAGTTGTACAATTCTTTCATTATATATTACAATGTAATCATAATAGGAATAAAGTGCATAGTAAATGTAATGCACTTGAATCATGCTGAAACCATCCCCACCCACCACCAGTCCATGGAAAAACCATCTTCCACTACACCGGTCCCTCATGCCAAAAAGGTTGGGGACCAGTGACTTACAGGATGCCTGGTCCCCATTGGTCTTCAGGGCAATGTCGTTTCTCTCCTGGCGCCCCTTGGTTCCTGAAACTTCTTCCATCTTGTGGATTTCTGACAAGCAGAGTTTGGGGTTATAGTGGAAGAAGAGTTTCCCCTGAGTGATGGTGAGGTTGTGTTTGCTCCAGTCCCAGAGCTGCCTTAGGTTCTGGTTGTCCAAGGCATAGAAGGAGTAGTTCCTATGGAAAAAACACACACATCTAGTCATTCAACGGCTGGTCTTCTACAACTCCAAGATGGTGTGGCCATGCTCGGAGTTGATCTTGTTCAGTGCTACGTGCCTAATCCTCTCCACTTGCTTGGCACATACTCAACACATATTTGTTGAATGTGGATAACAGAGGAAGTTGAGGAAGTTTTCATGGCCAGGAAGGAGGCTCAGCTCAGTCTTGAAGAGGGGTGGTGAGTCTGTGATGGACTGAGGAATAGGTTTTGCAGAAACCAATTTCTGCAAATAGGGGAAATACTGATAACACAGAGGCACCTAAGCTGAGTTCAGGGAAGAGCAAAGTAGCCTGTTTTGGCCAATAGGTGACAGGAAATAGCTGTAGTTGCAATGGACCAGACCCTCTAGTATATTGCATGCCAGACCAAGACCAAGAACATGTGGCCATCCTTAATAAGGAGAAAGGAGCCATTGAAGGTTTTTGTTTGTTTGTTTGTTTGTTTTATTGAGATGGATTCTCACTCTGGTGCCTAGGCTGGAGTACAGATAATATAGTCTAAACTATATTGTTTAGACCACCTTCTCAAGTCACTTACCAGCTCATGTTGATTAACATGTCCTTTTGTCCCTTTCCCCATTTGCTGTCTGTTCTACAGATGTGAGGCTGGGGCTGAGGCAGCCATCTTGTGACCATGAGGAGCACAAAGATGGAAAGAATCTGGGTCTTCCACAGACCTCCTGCCTATGAGTCAATCTTGATCTAGCTAGTTTGAGTTTCTGCTGTTTTGCTAATAGAGTTTCTAGGACCTCAAGGAGAAGGTTGGAATATACTGGAATATACTGAGATGGAGTCCATCCCAGAAATTAGGATGGACAACCGGGACTAAGAGGGAATGTTCATTTTATGCATGCCAAACTCTACTCACAATGCAGCCCAAACAGCAAATTTAGCAAAAATTCCAGCCTGTACCCTTGGAGGATGGGCACCAAGGTTGGGCTGCTCCCACTTTTGTTTCTCAAGAATGACTATAAAAAAGCTTTTACAATTTTTGGCTGGATGGACCTTTAGGCACATTCCAAGTTCTTTTTTCCCGAGGTTTTGCCAGATATACTTTTATTTGTTTTTTATTTGTTTTTATTTGATTTTTAAAAAATCCTTAAGTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTGGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACTATCACACTTGGCTAATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCCGCCTCAAGTGATTCACCCACGTTGGCCTCCTAAAATGCTGGGATTACAGGCATCAGCCACCACACCTGGCCAAAAAAATCCTTAAGTTGTTCTAATACACGAACTTCCTAGTTAGCACTCAGGCCATACACACAATCAGGCCCACGTACCCAATTTCCAAGGTCTCTCCTCGAATCAGACGTAACTTCCGGAAGAAGGAAAGTGACACCAGAGCGTAGGATCGGCGGATTTTTAGATACCCTGAAATTTCTTCAATGAGGCCGAGGTTGGCTTCTAGCTCAGCTGCCAGATTGTCTAAGGAAAGGAGAGAATATCCAGTGGGTTTCTATAGACATATTTCAATCTTCTCATGATTCTCCATGGTGAGAAGATAACCCTCAGGCTGCAAATGACTGGACATACCCAGCTCAAAACTCATCATGCTTAGAACACAATCTGAAGTCCTTAGCATTCCTTAAATGGGTCAAGCATACTTCTGCCCCAGGACCTTGGCACTGGCTGCGTCTGTTGCTCAGAATATTATTCCACCATATATCTCCTTGGCTTGTTCCATCATCATCTCAAACCCTCCTTTCCCATACCAGAGACTTCTCTAAAATAGCAACCCCCAGCTTGGTGCTGGTGGCTCATGCCTGTAATACCAGCACCTTGGGAGGGCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAACTACAAAAAAAAAAAAAAATAGCAACCCCTGTTAGTCTCCATTTTAGAGGTTGACAAATGACAGCCCACTGGCCAAATTCTACCTGTTTTGTAAATAAAGTTTTATTGGAACAAAGCCATGCCTGCTAGCTGACATGGGTCTATGGCTGTTTTCATATTACAACGGCAGAGTTGAGTGGTTACGGCAGAGACTGCCCGGCCTGCCAGGCTGAATATATTCATGAAAGAGCCCTTTATAGGGAAAAGTTGCCCATTTCCATTCCACCTATTACCCTGCTGCACTTCCCTTCACAGCACAGACCACAACCTGACCTTACAATATCTGTCGATTTACTTATGCGCAAAAATCCATCAAGGTAAGGACTTTCCCTTACTCACTGTGAGTATTCAGTACATGTTCGCTAAAGAAATAAACAAAGGAATGCCTTTTTGCCTGACATGGTATTTCTTTTCTTTTTTTTTGAAATGGAGTCTTGGTCTATGGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCATGTGCCACCGTGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAAGGTTTCACCATGTTGGCTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGTGGCGCGATCCCAGCTCATTGCAACCTCCACTTCCTGAGTTCAAACGATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGATTACAGGCACGCACCACCAAGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTTCTCACCTCACGTGATCCACCTGCCTCGGCCTCCCAAACTGTTGGGATTACAGGCATGAGCCACTGCACCCGGCCCTGAGATTTATTTCTGAAAACACAGCCTGCAGTTCTGCAATAGGGCATATTGCTTGATTGTTAAAAACGACGATTCCAAAGCCAGGTGGGGTGGCTCATGCCTGTAATCCCTGCACTTTGAGAGGCTGAGGCAGGAAGATTGCTCGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGAACCTGGCCCTGGAAAAAAATTAAAAAAAAAAAAAATTAGCCCGGCACAGTGACACCTGCCTGTACTCCCAGCTACTTGGGAGGCTGAGGTAGGAGGACTGCATGAGCCCAAGAGTTTGAGGCTACAGTGAGCTAGAGTTGCCCCACTGTACTCCAGCCTGGGCAATGGAGCAAGACCCCATCTCTAAAAATAAAAATAAAAATAAAAATAAATGTAAATGCAGATTCCTGATGCCCCAACTCCCAAAGTAGAAAATGAGAATCTCAAGGTTAG
CCATCACCCCCAGCTGGGACCATCTAGTTGCAGGAACACAAGCTCAGGGTTCCCATTGATTCTACATGATGGTGAGTTGTACAATTCTTTCATTATATATTACAATGTAATCATAATAGGAATAAAGTGCATAGTAAATGTAATGCACTTGAATCATGCTGAAACCATCCCCACCCACCACCAGTCCATGGAAAAACCATCTTCCACTACACCGGTCCCTCATGCCAAAAAGGTTGGGGACCAGTGACTTACAGGATGCCTGGTCCCCATTGGTCTTCAGGGCAATGTCGTTTCTCTCCTGGCGCCCCTTGGTTCCTGAAACTTCTTCCATCTTGTGGATTTCTGACAAGCAGAGTTTGGGGTTATAGTGGAAGAAGAGTTTCCCCTGAGTGATGGTGAGGTTGTGTTTGCTCCAGTCCCAGAGCTGCCTTAGGTTCTGGTTGTCCAAGGCATAGAAGGAGTAGTTCCTATGGAAAAAACACACACATCTAGTCATTCAACGGCTGGTCTTCTACAACTCCAAGATGGTGTGGCCATGCTCGGAGTTGATCTTGTTCAGTGCTACGTGCCTAATCCTCTCCACTTGCTTGGCACATACTCAACACATATTTGTTGAATGTGGATAACAGAGGAAGTTGAGGAAGTTTTCATGGCCAGGAAGGAGGCTCAGCTCAGTCTTGAAGAGGGGTGGTGAGTCTGTGATGGACTGAGGAATAGGTTTTGCAGAAACCAATTTCTGCAAATAGGGGAAATACTGATAACACAGAGGCACCTAAGCTGAGTTCAGGGAAGAGCAAAGTAGCCTGTTTTGGCCAATAGGTGACAGGAAATAGCTGTAGTTGCAATGGACCAGACCCTCTAGTATATTGCATGCCAGACCAAGACCAAGAACATGTGGCCATCCTTAATAAGGAGAAAGGAGCCATTGAAGGTTTTTGTTTGTTTGTTTGTTTGTTTTATTGAGATGGATTCTCACTCTGGTGCCTAGGCTGGAGTACAGATAATATAGTCTAAACTATATTGTTTAGACCACCTTCTCAAGTCACTTACCAGCTCATGTTGATTAACATGTCCTTTTGTCCCTTTCCCCATTTGCTGTCTGTTCTACAGATGTGAGGCTGGGGCTGAGGCAGCCATCTTGTGACCATGAGGAGCACAAAGATGGAAAGAATCTGGGTCTTCCACAGACCTCCTGCCTATGAGTCAATCTTGATCTAGCTAGTTTGAGTTTCTGCTGTTTTGCTAATAGAGTTTCTAGGACCTCAAGGAGAAGGTTGGAATATACTGGAATATACTGAGATGGAGTCCATCCCAGAAATTAGGATGGACAACCGGGACTAAGAGGGAATGTTCATTTTATGCATGCCAAACTCTACTCACAATGCAGCCCAAACAGCAAATTTAGCAAAAATTCCAGCCTGTACCCTTGGAGGATGGGCACCAAGGTTGGGCTGCTCCCACTTTTGTTTCTCAAGAATGACTATAAAAAAGCTTTTACAATTTTTGGCTGGATGGACCTTTAGGCACATTCCAAGTTCTTTTTTCCCGAGGTTTTGCCAGATATACTTTTATTTGTTTTTTATTTGTTTTTATTTGATTTTTAAAAAATCCTTAAGTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTGGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACTATCACACTTGGCTAATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCCGCCTCAAGTGATTCACCCACGTTGGCCTCCTAAAATGCTGGGATTACAGGCATCAGCCACCACACCTGGCCAAAAAAATCCTTAAGTTGTTCTAATACACGAACTTCCTAGTTAGCACTCAGGCCATACACACAATCAGGCCCACGTACCCAATTTCCAAGGTCTCTCCTCGAATCAGACGTAACTTCCGGACGAAGGAAAGTGACACCAGAGCGTAGGATCGGCGGATTTTTAGATACCCTGAAATTTCTTCAATGAGGCCGAGGTTGGCTTCTAGCTCAGCTGCCAGATTGTCTAAGGAAAGGAGAGAATATCCAGTGGGTTTCTATAGACATATTTCAATCTTCTCATGATTCTCCATGGTGAGAAGATAACCCTCAGGCTGCAAATGACTGGACATACCCAGCTCAAAACTCATCATGCTTAGAACACAATCTGAAGTCCTTAGCATTCCTTAAATGGGTCAAGCATACTTCTGCCCCAGGACCTTGGCACTGGCTGCGTCTGTTGCTCAGAATATTATTCCACCATATATCTCCTTGGCTTGTTCCATCATCATCTCAAACCCTCCTTTCCCATACCAGAGACTTCTCTAAAATAGCAACCCCCAGCTTGGTGCTGGTGGCTCATGCCTGTAATACCAGCACCTTGGGAGGGCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAACTACAAAAAAAAAAAAAAATAGCAACCCCTGTTAGTCTCCATTTTAGAGGTTGACAAATGACAGCCCACTGGCCAAATTCTACCTGTTTTGTAAATAAAGTTTTATTGGAACAAAGCCATGCCTGCTAGCTGACATGGGTCTATGGCTGTTTTCATATTACAACGGCAGAGTTGAGTGGTTACGGCAGAGACTGCCCGGCCTGCCAGGCTGAATATATTCATGAAAGAGCCCTTTATAGGGAAAAGTTGCCCATTTCCATTCCACCTATTACCCTGCTGCACTTCCCTTCACAGCACAGACCACAACCTGACCTTACAATATCTGTCGATTTACTTATGCGCAAAAATCCATCAAGGTAAGGACTTTCCCTTACTCACTGTGAGTATTCAGTACATGTTCGCTAAAGAAATAAACAAAGGAATGCCTTTTTGCCTGACATGGTATTTCTTTTCTTTTTTTTTGAAATGGAGTCTTGGTCTATGGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCATGTGCCACCGTGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAAGGTTTCACCATGTTGGCTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGTGGCGCGATCCCAGCTCATTGCAACCTCCACTTCCTGAGTTCAAACGATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGATTACAGGCACGCACCACCAAGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTTCTCACCTCACGTGATCCACCTGCCTCGGCCTCCCAAACTGTTGGGATTACAGGCATGAGCCACTGCACCCGGCCCTGAGATTTATTTCTGAAAACACAGCCTGCAGTTCTGCAATAGGGCATATTGCTTGATTGTTAAAAACGACGATTCCAAAGCCAGGTGGGGTGGCTCATGCCTGTAATCCCTGCACTTTGAGAGGCTGAGGCAGGAAGATTGCTCGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGAACCTGGCCCTGGAAAAAAATTAAAAAAAAAAAAAATTAGCCCGGCACAGTGACACCTGCCTGTACTCCCAGCTACTTGGGAGGCTGAGGTAGGAGGACTGCATGAGCCCAAGAGTTTGAGGCTACAGTGAGCTAGAGTTGCCCCACTGTACTCCAGCCTGGGCAATGGAGCAAGACCCCATCTCTAAAAATAAAAATAAAAATAAAAATAAATGTAAATGCAGATTCCTGATGCCCCAACTCCCAAAGTAGAAAATGAGAATCTCAAGGTTAG
Task1_train_26364
Mutation context: Chromosome 19, Gene INSR (insulin receptor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Leprechaunism syndrome
GTTCCCATTGATTCTACATGATGGTGAGTTGTACAATTCTTTCATTATATATTACAATGTAATCATAATAGGAATAAAGTGCATAGTAAATGTAATGCACTTGAATCATGCTGAAACCATCCCCACCCACCACCAGTCCATGGAAAAACCATCTTCCACTACACCGGTCCCTCATGCCAAAAAGGTTGGGGACCAGTGACTTACAGGATGCCTGGTCCCCATTGGTCTTCAGGGCAATGTCGTTTCTCTCCTGGCGCCCCTTGGTTCCTGAAACTTCTTCCATCTTGTGGATTTCTGACAAGCAGAGTTTGGGGTTATAGTGGAAGAAGAGTTTCCCCTGAGTGATGGTGAGGTTGTGTTTGCTCCAGTCCCAGAGCTGCCTTAGGTTCTGGTTGTCCAAGGCATAGAAGGAGTAGTTCCTATGGAAAAAACACACACATCTAGTCATTCAACGGCTGGTCTTCTACAACTCCAAGATGGTGTGGCCATGCTCGGAGTTGATCTTGTTCAGTGCTACGTGCCTAATCCTCTCCACTTGCTTGGCACATACTCAACACATATTTGTTGAATGTGGATAACAGAGGAAGTTGAGGAAGTTTTCATGGCCAGGAAGGAGGCTCAGCTCAGTCTTGAAGAGGGGTGGTGAGTCTGTGATGGACTGAGGAATAGGTTTTGCAGAAACCAATTTCTGCAAATAGGGGAAATACTGATAACACAGAGGCACCTAAGCTGAGTTCAGGGAAGAGCAAAGTAGCCTGTTTTGGCCAATAGGTGACAGGAAATAGCTGTAGTTGCAATGGACCAGACCCTCTAGTATATTGCATGCCAGACCAAGACCAAGAACATGTGGCCATCCTTAATAAGGAGAAAGGAGCCATTGAAGGTTTTTGTTTGTTTGTTTGTTTGTTTTATTGAGATGGATTCTCACTCTGGTGCCTAGGCTGGAGTACAGATAATATAGTCTAAACTATATTGTTTAGACCACCTTCTCAAGTCACTTACCAGCTCATGTTGATTAACATGTCCTTTTGTCCCTTTCCCCATTTGCTGTCTGTTCTACAGATGTGAGGCTGGGGCTGAGGCAGCCATCTTGTGACCATGAGGAGCACAAAGATGGAAAGAATCTGGGTCTTCCACAGACCTCCTGCCTATGAGTCAATCTTGATCTAGCTAGTTTGAGTTTCTGCTGTTTTGCTAATAGAGTTTCTAGGACCTCAAGGAGAAGGTTGGAATATACTGGAATATACTGAGATGGAGTCCATCCCAGAAATTAGGATGGACAACCGGGACTAAGAGGGAATGTTCATTTTATGCATGCCAAACTCTACTCACAATGCAGCCCAAACAGCAAATTTAGCAAAAATTCCAGCCTGTACCCTTGGAGGATGGGCACCAAGGTTGGGCTGCTCCCACTTTTGTTTCTCAAGAATGACTATAAAAAAGCTTTTACAATTTTTGGCTGGATGGACCTTTAGGCACATTCCAAGTTCTTTTTTCCCGAGGTTTTGCCAGATATACTTTTATTTGTTTTTTATTTGTTTTTATTTGATTTTTAAAAAATCCTTAAGTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTGGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACTATCACACTTGGCTAATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCCGCCTCAAGTGATTCACCCACGTTGGCCTCCTAAAATGCTGGGATTACAGGCATCAGCCACCACACCTGGCCAAAAAAATCCTTAAGTTGTTCTAATACACGAACTTCCTAGTTAGCACTCAGGCCATACACACAATCAGGCCCACGTACCCAATTTCCAAGGTCTCTCCTCGAATCAGACGTAACTTCCGGAAGAAGGAAAGTGACACCAGAGCGTAGGATCGGCGGATTTTTAGATACCCTGAAATTTCTTCAATGAGGCCGAGGTTGGCTTCTAGCTCAGCTGCCAGATTGTCTAAGGAAAGGAGAGAATATCCAGTGGGTTTCTATAGACATATTTCAATCTTCTCATGATTCTCCATGGTGAGAAGATAACCCTCAGGCTGCAAATGACTGGACATACCCAGCTCAAAACTCATCATGCTTAGAACACAATCTGAAGTCCTTAGCATTCCTTAAATGGGTCAAGCATACTTCTGCCCCAGGACCTTGGCACTGGCTGCGTCTGTTGCTCAGAATATTATTCCACCATATATCTCCTTGGCTTGTTCCATCATCATCTCAAACCCTCCTTTCCCATACCAGAGACTTCTCTAAAATAGCAACCCCCAGCTTGGTGCTGGTGGCTCATGCCTGTAATACCAGCACCTTGGGAGGGCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAACTACAAAAAAAAAAAAAAATAGCAACCCCTGTTAGTCTCCATTTTAGAGGTTGACAAATGACAGCCCACTGGCCAAATTCTACCTGTTTTGTAAATAAAGTTTTATTGGAACAAAGCCATGCCTGCTAGCTGACATGGGTCTATGGCTGTTTTCATATTACAACGGCAGAGTTGAGTGGTTACGGCAGAGACTGCCCGGCCTGCCAGGCTGAATATATTCATGAAAGAGCCCTTTATAGGGAAAAGTTGCCCATTTCCATTCCACCTATTACCCTGCTGCACTTCCCTTCACAGCACAGACCACAACCTGACCTTACAATATCTGTCGATTTACTTATGCGCAAAAATCCATCAAGGTAAGGACTTTCCCTTACTCACTGTGAGTATTCAGTACATGTTCGCTAAAGAAATAAACAAAGGAATGCCTTTTTGCCTGACATGGTATTTCTTTTCTTTTTTTTTGAAATGGAGTCTTGGTCTATGGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCATGTGCCACCGTGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAAGGTTTCACCATGTTGGCTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGTGGCGCGATCCCAGCTCATTGCAACCTCCACTTCCTGAGTTCAAACGATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGATTACAGGCACGCACCACCAAGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTTCTCACCTCACGTGATCCACCTGCCTCGGCCTCCCAAACTGTTGGGATTACAGGCATGAGCCACTGCACCCGGCCCTGAGATTTATTTCTGAAAACACAGCCTGCAGTTCTGCAATAGGGCATATTGCTTGATTGTTAAAAACGACGATTCCAAAGCCAGGTGGGGTGGCTCATGCCTGTAATCCCTGCACTTTGAGAGGCTGAGGCAGGAAGATTGCTCGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGAACCTGGCCCTGGAAAAAAATTAAAAAAAAAAAAAATTAGCCCGGCACAGTGACACCTGCCTGTACTCCCAGCTACTTGGGAGGCTGAGGTAGGAGGACTGCATGAGCCCAAGAGTTTGAGGCTACAGTGAGCTAGAGTTGCCCCACTGTACTCCAGCCTGGGCAATGGAGCAAGACCCCATCTCTAAAAATAAAAATAAAAATAAAAATAAATGTAAATGCAGATTCCTGATGCCCCAACTCCCAAAGTAGAAAATGAGAATCTCAAGGTTAGTAAGGCCAAGACTGAGCTGTTCATTTCAGGTTTTGAGGCAGACTCCCA
GTTCCCATTGATTCTACATGATGGTGAGTTGTACAATTCTTTCATTATATATTACAATGTAATCATAATAGGAATAAAGTGCATAGTAAATGTAATGCACTTGAATCATGCTGAAACCATCCCCACCCACCACCAGTCCATGGAAAAACCATCTTCCACTACACCGGTCCCTCATGCCAAAAAGGTTGGGGACCAGTGACTTACAGGATGCCTGGTCCCCATTGGTCTTCAGGGCAATGTCGTTTCTCTCCTGGCGCCCCTTGGTTCCTGAAACTTCTTCCATCTTGTGGATTTCTGACAAGCAGAGTTTGGGGTTATAGTGGAAGAAGAGTTTCCCCTGAGTGATGGTGAGGTTGTGTTTGCTCCAGTCCCAGAGCTGCCTTAGGTTCTGGTTGTCCAAGGCATAGAAGGAGTAGTTCCTATGGAAAAAACACACACATCTAGTCATTCAACGGCTGGTCTTCTACAACTCCAAGATGGTGTGGCCATGCTCGGAGTTGATCTTGTTCAGTGCTACGTGCCTAATCCTCTCCACTTGCTTGGCACATACTCAACACATATTTGTTGAATGTGGATAACAGAGGAAGTTGAGGAAGTTTTCATGGCCAGGAAGGAGGCTCAGCTCAGTCTTGAAGAGGGGTGGTGAGTCTGTGATGGACTGAGGAATAGGTTTTGCAGAAACCAATTTCTGCAAATAGGGGAAATACTGATAACACAGAGGCACCTAAGCTGAGTTCAGGGAAGAGCAAAGTAGCCTGTTTTGGCCAATAGGTGACAGGAAATAGCTGTAGTTGCAATGGACCAGACCCTCTAGTATATTGCATGCCAGACCAAGACCAAGAACATGTGGCCATCCTTAATAAGGAGAAAGGAGCCATTGAAGGTTTTTGTTTGTTTGTTTGTTTGTTTTATTGAGATGGATTCTCACTCTGGTGCCTAGGCTGGAGTACAGATAATATAGTCTAAACTATATTGTTTAGACCACCTTCTCAAGTCACTTACCAGCTCATGTTGATTAACATGTCCTTTTGTCCCTTTCCCCATTTGCTGTCTGTTCTACAGATGTGAGGCTGGGGCTGAGGCAGCCATCTTGTGACCATGAGGAGCACAAAGATGGAAAGAATCTGGGTCTTCCACAGACCTCCTGCCTATGAGTCAATCTTGATCTAGCTAGTTTGAGTTTCTGCTGTTTTGCTAATAGAGTTTCTAGGACCTCAAGGAGAAGGTTGGAATATACTGGAATATACTGAGATGGAGTCCATCCCAGAAATTAGGATGGACAACCGGGACTAAGAGGGAATGTTCATTTTATGCATGCCAAACTCTACTCACAATGCAGCCCAAACAGCAAATTTAGCAAAAATTCCAGCCTGTACCCTTGGAGGATGGGCACCAAGGTTGGGCTGCTCCCACTTTTGTTTCTCAAGAATGACTATAAAAAAGCTTTTACAATTTTTGGCTGGATGGACCTTTAGGCACATTCCAAGTTCTTTTTTCCCGAGGTTTTGCCAGATATACTTTTATTTGTTTTTTATTTGTTTTTATTTGATTTTTAAAAAATCCTTAAGTTTTTCCTTTTCTTTTCTTTTTTTTTTTTTGGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACTATCACACTTGGCTAATTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCCGCCTCAAGTGATTCACCCACGTTGGCCTCCTAAAATGCTGGGATTACAGGCATCAGCCACCACACCTGGCCAAAAAAATCCTTAAGTTGTTCTAATACACGAACTTCCTAGTTAGCACTCAGGCCATACACACAATCAGGCCCACGTACCCAATTTCCAAGGTCTCTCCTCGAATCAGACGTAACTTCCGGAAGAAGGAAAGTGACACCAGAGCGTAGGATCGGCGGATTTTTAGATACCTTGAAATTTCTTCAATGAGGCCGAGGTTGGCTTCTAGCTCAGCTGCCAGATTGTCTAAGGAAAGGAGAGAATATCCAGTGGGTTTCTATAGACATATTTCAATCTTCTCATGATTCTCCATGGTGAGAAGATAACCCTCAGGCTGCAAATGACTGGACATACCCAGCTCAAAACTCATCATGCTTAGAACACAATCTGAAGTCCTTAGCATTCCTTAAATGGGTCAAGCATACTTCTGCCCCAGGACCTTGGCACTGGCTGCGTCTGTTGCTCAGAATATTATTCCACCATATATCTCCTTGGCTTGTTCCATCATCATCTCAAACCCTCCTTTCCCATACCAGAGACTTCTCTAAAATAGCAACCCCCAGCTTGGTGCTGGTGGCTCATGCCTGTAATACCAGCACCTTGGGAGGGCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAACTACAAAAAAAAAAAAAAATAGCAACCCCTGTTAGTCTCCATTTTAGAGGTTGACAAATGACAGCCCACTGGCCAAATTCTACCTGTTTTGTAAATAAAGTTTTATTGGAACAAAGCCATGCCTGCTAGCTGACATGGGTCTATGGCTGTTTTCATATTACAACGGCAGAGTTGAGTGGTTACGGCAGAGACTGCCCGGCCTGCCAGGCTGAATATATTCATGAAAGAGCCCTTTATAGGGAAAAGTTGCCCATTTCCATTCCACCTATTACCCTGCTGCACTTCCCTTCACAGCACAGACCACAACCTGACCTTACAATATCTGTCGATTTACTTATGCGCAAAAATCCATCAAGGTAAGGACTTTCCCTTACTCACTGTGAGTATTCAGTACATGTTCGCTAAAGAAATAAACAAAGGAATGCCTTTTTGCCTGACATGGTATTTCTTTTCTTTTTTTTTGAAATGGAGTCTTGGTCTATGGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCATGTGCCACCGTGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAAGGTTTCACCATGTTGGCTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGTGGCGCGATCCCAGCTCATTGCAACCTCCACTTCCTGAGTTCAAACGATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGATTACAGGCACGCACCACCAAGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTTCTCACCTCACGTGATCCACCTGCCTCGGCCTCCCAAACTGTTGGGATTACAGGCATGAGCCACTGCACCCGGCCCTGAGATTTATTTCTGAAAACACAGCCTGCAGTTCTGCAATAGGGCATATTGCTTGATTGTTAAAAACGACGATTCCAAAGCCAGGTGGGGTGGCTCATGCCTGTAATCCCTGCACTTTGAGAGGCTGAGGCAGGAAGATTGCTCGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGAACCTGGCCCTGGAAAAAAATTAAAAAAAAAAAAAATTAGCCCGGCACAGTGACACCTGCCTGTACTCCCAGCTACTTGGGAGGCTGAGGTAGGAGGACTGCATGAGCCCAAGAGTTTGAGGCTACAGTGAGCTAGAGTTGCCCCACTGTACTCCAGCCTGGGCAATGGAGCAAGACCCCATCTCTAAAAATAAAAATAAAAATAAAAATAAATGTAAATGCAGATTCCTGATGCCCCAACTCCCAAAGTAGAAAATGAGAATCTCAAGGTTAGTAAGGCCAAGACTGAGCTGTTCATTTCAGGTTTTGAGGCAGACTCCCA
Task1_train_26365
This sequence change occurs on Chromosome 19, altering INSR (insulin receptor). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Leprechaunism syndrome
AGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCTCTGTCTCAAAATAAATAAATTAATTAATTAAAAGCTTCAGAAATAAAAATATTAATTTTTTTAAACCTACGCAATAAAATACGGTGACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTT
AGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGGCTCTGTCTCAAAATAAATAAATTAATTAATTAAAAGCTTCAGAAATAAAAATATTAATTTTTTTAAACCTACGCAATAAAATACGGTGACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCGGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTT
Task1_train_26366
Here’s a variant in INSR (insulin receptor) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Leprechaunism syndrome
AAAAGCTTCAGAAATAAAAATATTAATTTTTTTAAACCTACGCAATAAAATACGGTGACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGTGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCC
AAAAGCTTCAGAAATAAAAATATTAATTTTTTTAAACCTACGCAATAAAATACGGTGACAATGCACCCCCCTCTCCTTTGTTTTCTTCCGTTCAGGAAAGGTCCCAGATACCAAGGATGTGCGGTCAATTTCTCAGGGTTTCTGTTTTAGCATCTCCCGCATCATCAGTGAGAAAATCAAAGGAGGTTGCTATATTTCTCAGGCCATTGTTAAGGTGAGGGAAAAATGCCTTTTATTTAAGGCCAATGTCTTTTAAACAAACATCTTGCCAGAAGATATTAACCCATTTTTTTTATTTCAATTGTGATTTTAAAAAGAAAGAAATGAATCAAAAGGAATATGGTCATTTCCTCAATCTTGGGAATACACTGGCCAAAAAAAAAAAAAAAAACCTAAAACAAAAGTCTGTCTGGTATGAAAAGGTGATTTATAGACCCTTTTGGTCAATAAAGCCAAAAGGTTTTTTTGGTAGGTTTTTATCAACAACGAGCAAAACAAAACATATTGTACTTGCAGGTTTCACAAACACTCAAAGAAAGAGTCATAAGAACTGAAATTACAGCTTGTTTTCCTTCCCGCCCTCTCCACCCAGGGAAATACAATTTCCCACCCCAACACTCTCGCTTGGCTAATTCTCAAGTCTGAAGAGGAAGATACTTTACGTAAGCAGGTCAGCTCAAGGCCTCTTGATGTGTGTCTGTTTCTGATTTGTTTTTGTGTTGTTTTGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAAAACAAAACATAAAACCTCAATACAAAAACCAGGAAACAGATTTTTGCAACTCAGTTACGGCCCCAAAATAGCTCATGGAAGAAGCTCACAGTACGAACAGAAAGTCTGCGATGTGCGTAGGAAATCTGACTCTGTCGAAGAGAGAAAACCCTGCTATTTCTCACCCAAACGGCAGGAAATGGTTTGATTATACTGTCCTTCAGAGAACAGCAAAGCCCTGAGAATAATGCAGAAGCGAGTCTCTTCCTCCTGGAGACAGTATGTTCTGGGCTAATCTTGGCACACCACCAGGCTACAGGTCAGGGAAGACACGAAAGACCTTGGTATATCCTTTATGTGACAATGATGAAGCTACATCAGTGAGGACAGGCCACGTGGAGGATTTTAGGGAAAACCAAGGACTCTGTCCTTATTATATTTTCTTGTTCTGAAGCCAACCACAGAAAGCTTAGAACTGAGGTCCACAATGCCAGACTGGGTGCGGTGGCTCACACCTGCAATCACAGCACTTTGAGAGGCCAAGGCAGGTGGACCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGCAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAGGTTCGTGCCACTGCACTCCAGCTTGGGAGTCTTGCGGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAATGGTGGGCACAATGCCAGAAGTATATACTATCTGGTCCTTTAGAGAAAAAGGTAGTCAACTCCCACTCCCAAGCCCAGGACCAAAACAGGGTGCAAAAGTAGCATCTGAGAGCAGAGACCTCACTCATAGCCAATTAACCCTGGGTTTGCACACAGTTTTAACAAGCGGCATCGTCACAACCAACCCCACGTTCCTTCTCCTCTCGGCTGCCCCCCAGACCCACATCCAGAACTCACTTGCTGGAATTCATCGTGTACCCGGAGGGACACTCAGGGATGCACTTGTTGTTGTGAATGACGTACTGGTGGCAGCCCTGCCTCCGCGAGTTCTTGCATTTGTGGTGCAGGTCCTGGCAGAAGCTGAAGTTCACACAGCGCCAGTCCTGGAAGTGGTAGTACGGGGGCGGGCAGGTCTCCACACACCTGCCGTCCAGGTAGAAGTTGCGGCAGGCCACGCACTTGGTGGGGTCGTCGGGCTGAGAACAGTTGCCCAGGCACTCGCTGCGGCAACAGAGGCCTTCGGCGGTGCAGCCGTGTGACTTACAGATGGTCGGGCAAACTGGAGAGAGAGAGAGAGAGAGAGGGAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATGGCTTTGTCCAATTCCTGTCTGCATATGCAGCAATTCTGGATCAGACAGTGAAAGCCAACCAAACACTAACAGTAAAAGCGGCACGTCTACATCATTACCCACATGTCAGACACATCTATTAACTGGTTTAAGCCTCCAAACCATTGGTGAGCTTGTAAATGTTTAACAGCTGCCTGAGGGAGGGGCCCAGGGAGGCCCAGATTTATATAGCATTTGCCGATTTCCATGGTGTAAATATTCCTACCAGTGGTGGATTTCAGGCCACCAACATGAAGTTACTAAACATAAGCTGACAAAAGATACACAGTAGCATTCCTCTAAGTAGTATTTATAAGTATACACAAAATGTATCTACTATTGACACAAAAGTAGTAAATAACCTCAACAGCACAAATAATAGGAAAACATCGTATGATATTAGGAGGTGGTGAGTTTTGAGTATTTGTTACTTTTAAAAAGCTTTGTTAATTTAAAAACTTTTGTTTTTAATGTAATTTGTTTAACTGTAGGTTTATGTAATTTTTATGAATATCTATGTTTAACAAATGGCTCACAAATTGCCTGAAAATTTCACCACTGGCTCCAGCAAGCCAACTCCAGCATGCTGCTGCACCCCACATGTGAAGTAGATACACTGTTAGCTCCTTTATTTTTTTGTTTTACAAATGGGGAAACTGAGGTACAGGGAGGTTAAGTAACTTGCCCCCAAACCACTGATTGCTTCAACAGACATTTGCTTGCACTAATCTAGATACTGTGGCCACTGTGGGGAAAAAAGTGGCTGCAGATCCTGCCTTTGGGAGCACAAGGTCTAATGGAGGAGACATGTTAGTTACTTAAACATGCAAATGTGGCTCGGTGTGGTGGCTCACGCCTGTAATCCTAGCAATTTGGGAGGTCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGCTGGTGCATGCCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCACGAGAATCACTTGAATCTGGGAGGTGGAGGCTGCAGTGAGCCATGATCGTGCCACTATACTCCAGCCTGGGCAACAAGTGCAAAATTCTGTCAAAAAAAAAAAAAAAAAAGAGAGAGAGAGACAAAGAGAGAGAGAAAAGGAAGGAAGGAAGGAAAAAAAAAAGGCTGGTTGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGATGATACAAACAATTAGCCGGGTGTGGTGGTGGGCGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGGAGGTTGCAGGGAGCCGAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGGGAGACTCTGTCTCAAAACAAAAAATGAAACAAAACAAAAAATAAGAAAGAAAGTTGGGGAGTGTTCTTCACCCCAAATCCCCAGACTGTGATTCTCAGCACAGTGGATCCCACCGGCCAAACTCAGGGAACAGAAGTGGCCCCAGAAGCTACATCCATATATGAACAGCACCATCTGGTCGAAATTTCTGCGATGACGGAAATGTTCTCTATCTGGGCCATCCAACATAGTAGCCACTTCTCCCCTGTGGCTTCTGAATGTGCTTAGTGCAACTAGGAAATCCAATTTTTTTTTTAATTGTGGTAAAATACACATAGCATAAAATTCACCATTGTAATCATGTTTAAATGTATAGTTCAGTGGTATTAAATACTTTTATGTGGCTATGCAACCATCACCACCACCCATCTCCAGAACTTTCTCACCTTAACCAAACTGAAACTCTGCCC
Task1_train_26367
A variant was discovered on Chromosome 19, affecting INSR (insulin receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Leprechaunism syndrome
AGGTAGATTTCTATAATCAACAGCTGTCTGAGGCCCCCAGTTAGCTATTTGGGAGAGAAACGAAACGCCCGTTGAGTCACACACACAAACAGATCTCAAGTAGTGAGGATGAATTTTTTTAGATAATAATAATTAAAATATAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGAGTTCGAGACCAGCCTGGTCAACGTAGTGAAATCTCGTCTCTACTAACAATACAAAAATTAGCTGGGCTTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAACCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATCGCACTCCAGTCTTAACAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTAAAATATAAAATGTAGAGAAAAAAAACCTTTCATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAAAGAAATGCAAATAGAAACAATGACAACACGTCAGCTCCTCCCTCCCGCAGTAAATTATGAAAGATTTTTCAAATAACACTCAAAGCTGGCCAAGGTGTTCCCTCTCCTCCAAAGCTAGGAGGAGTGGCCGTTGGCACAACATTTCCGGAACACCATTTGTCAATCTGCACCAAGAGCCTCTGACCCAGAAATTGCACTTCTGGAAAGCAAGCCTAAAGAAACAACTGCTAGATAAAGCTTTGACTCTAAAATGTTCATCACTCTCTTTGTGAAAACTAGAAATTATCTTTTTTTTTTTTTTTTTTTGAGAAGGAGTTTCCCTCTGGTTGCCCAGGGTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCGCCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGTTGGTCTCGAACTCCTGACCTCAAGTGGTCCACCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCGGCCTGGAAATCATCTTAATGCCCAATAACAGGAATGGTTAAGGAAACCTTCAGTAGACACGACAGATTCCTGAAGATCACTAGAAGGAACAACCCCCAATAAACTACTCTCGGCGACATGCGTTGTGGAATAAGATGAATGTTTTGCTTTTTTTTCGTTTACAAGTGTCTTTTTCCAAATGTCTATTATAAGCAATATCACTTCTATAATCAGATAAGAACTAAACTATTTTTTTAAAAAAACCGAATCTACAGTTTTCCACTCCTTTTCCTCTCCCAAGCAAGAAGAACATTCACTGACTAGCACAGGCGGTGGCAAACTGCTGCCCTCGAGCAAAATCCGGCCCACGACTTGTTTTTGTAAATAAAGTTTTATTGAAACACAGCCACAGTCATACATTTATGCATGCCTGTGGCTGCTTGTCCAATACAGTGGCAGAATTGAGTCGTTGCATCAGAGACCATATGGCCTGCAAAATCTGAAGTATCTACTATCTGAGTCTTTACAGAAAATGTCTGCCACTCCCTGGGCTAGTGAATGCCACCACCCACTATTCCCCGGCCCCTACCTAATGACCATTTAACATTTTTAAGCCATAAAACATTTTAAGCTTTCTAGAACAAGGCACGAGACACTGCTTAGAACCCTGTATCCCCGGCGTACCTTTCTGGCAGTGACTATGAGTCCAACATCGTTCGACAAACTGCCCGTTGATGACGGTGGCGGGGCAGTTGGTCTTGCCCTTCGCGGTACCCGGACAGATGTCTCCACACTCCTCGTTGTCATCTTTGTTCAACACGATGTAATTATCCTCCACGGAATCCAGGATACGGGACCAGTCGATAGTGGCCAAGTAACAGAGCTCATTGTTCTTCTCGATGCGGACAGAACCCCGGGTGATGTTCATCAGGTTGTAGAGGCCGAGTTCCTTGAGGTGAACCATCTCGAAGATGACCAGCGCGTAGTTAAAGAACAGTCGTGATCCCCGGATGACCGTGAGGTTGGGGAACAGGTCCTTCAGGCTCTCGAGCCCATAGACCCGGAAGAGCAGCAAGTAATCAGTGATCATGATGAGTTTGGGGAAACTGAGGTCTCGGAAATCTTCGGGCCTCGTTTTGAACATCAAGAGTATCTGCAAGTGTCCTTCGATGACAGAGCAATTCTCCAGCTCATGCAACCTAGTGAGGTTGTTCCGGATATCCATGCCGGGACACACTACAAGAGAAAATGAACAGAAAGCAAGACAGGTGAGCAGACGCACGGTGGATGCATCAGAAGGATCAGGGGCAGAGCCGGCTTCATGGACAGGAAACCTGGGCCCTGTGTTTTCATCCCGGGCCCTGTAAACTCTGCAGCCAGCCGGGATGAGTAGCTTTCTCTGTAAAGTACCCATGCCTAAGTAATTACTTTCAAAACGCCAAGAAAATAATTCTTTTGGCAAGCCCTGTTAAAATCCTTAAAATCACCACCTCTGAAATGATGCAGTCGGGACAATGGGATTACAGGGGATTGAGTAACGCGGCAGGTGCAGAAGGAGAAAGGGGAACTGTCTCCAGTGCGTCAACATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAGGTGCCCGCGGTCAGAAATGGGGCAAGGAAAGCTAAATGTATTTGTTTTGTCAATCCTCCCACCTCGCTGGCTGACTTTCCTTCCCGGACTGCTCTCCTGACCTGCAATCAAGACCTAATTACCTTTTACCTGGGTGTGGTGAGGGCTTCCCAGGGAGCCCGATCTCCATTGCCCAAATGCCCTGAGTTCTCATTCTCCTGAAGGCGGTCCCTCCCAGGCCCCAACGCCCACCATGGCTCCCCATCATCCTGCACTTCCCTCAAGATTCTGCCCCTACATCCCCTGCACACCACTAAACAGGCCTGCCCACAACTCTTGCACAACTCCAAGACTCCTATCCTCCTCTGTAACATGGCTTATATGGAAGAAGAAGTGAAACAACTCAGGGCAAGCACTCAAACAGTGCCTGAGACATAGTAAGTGCTGCACTAATGTCAGCTATTTTGTTGTTTGTTGTTGTTGTTCTTCTTGCTGTTGTTTATTCCCCCAAACATATAACAGTCATCTCTAGGCTAGTCTATCTTTTGGCTGGCGAAGTGCTTTGTACCTTAGCTCCCTATTTCTAAATCCAGCCCATCATGCTTCAAGATATCCAGTTCAAATGCTGCCTCCTCCTCCAGGCAGCCGTCCCTGATTTCCTTTCCTTGGCACACCTATTTGCGTGTTTCTCCTCCTTGTGTCCCTTACACCTGAGTTAACGTTTTTCAAAATTGAAGTCTTTAGATGGCTTCTCTCTGCCAACACACCCACACACCCACACACACACACACACACACACCGCCTCCCCAACACACACACCACAGTCCTCAGCACCTAGAATATAAGGCTCAGTATACAACCCCTGCTTATTTTGTTCCAAAACACTAAACCTTCCACCAATATCTTTGAGGAAAACAGATTGTTCTAAAGAAGAATAGTAAATCCTCTAAAAAAAAAAAAAATCCACCCTGAGAATTACCCACAAAAGAAGCACAAATTAGAAAAAACAATAACAACGACAAAACACAGCAAAAGCAAACAAATGGGAAAAAAAAAGTAGCAGTGATCCTGGATCACATTCCATGCAGCAAATGGATTAGGCTAAGTCGAGAAAACACACACACACACACACACACACACACACACACAC
AGGTAGATTTCTATAATCAACAGCTGTCTGAGGCCCCCAGTTAGCTATTTGGGAGAGAAACGAAACGCCCGTTGAGTCACACACACAAACAGATCTCAAGTAGTGAGGATGAATTTTTTTAGATAATAATAATTAAAATATAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGAGTTCGAGACCAGCCTGGTCAACGTAGTGAAATCTCGTCTCTACTAACAATACAAAAATTAGCTGGGCTTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAACCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATCGCACTCCAGTCTTAACAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTAAAATATAAAATGTAGAGAAAAAAAACCTTTCATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAAAGAAATGCAAATAGAAACAATGACAACACGTCAGCTCCTCCCTCCCGCAGTAAATTATGAAAGATTTTTCAAATAACACTCAAAGCTGGCCAAGGTGTTCCCTCTCCTCCAAAGCTAGGAGGAGTGGCCGTTGGCACAACATTTCCGGAACACCATTTGTCAATCTGCACCAAGAGCCTCTGACCCAGAAATTGCACTTCTGGAAAGCAAGCCTAAAGAAACAACTGCTAGATAAAGCTTTGACTCTAAAATGTTCATCACTCTCTTTGTGAAAACTAGAAATTATCTTTTTTTTTTTTTTTTTTTGAGAAGGAGTTTCCCTCTGGTTGCCCAGGGTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCGCCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGTTGGTCTCGAACTCCTGACCTCAAGTGGTCCACCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCGGCCTGGAAATCATCTTAATGCCCAATAACAGGAATGGTTAAGGAAACCTTCAGTAGACACGACAGATTCCTGAAGATCACTAGAAGGAACAACCCCCAATAAACTACTCTCGGCGACATGCGTTGTGGAATAAGATGAATGTTTTGCTTTTTTTTCGTTTACAAGTGTCTTTTTCCAAATGTCTATTATAAGCAATATCACTTCTATAATCAGATAAGAACTAAACTATTTTTTTAAAAAAACCGAATCTACAGTTTTCCACTCCTTTTCCTCTCCCAAGCAAGAAGAACATTCACTGACTAGCACAGGCGGTGGCAAACTGCTGCCCTCGAGCAAAATCCGGCCCACGACTTGTTTTTGTAAATAAAGTTTTATTGAAACACAGCCACAGTCATACATTTATGCATGCCTGTGGCTGCTTGTCCAATACAGTGGCAGAATTGAGTCGTTGCATCAGAGACCATATGGCCTGCAAAATCTGAAGTATCTACTATCTGAGTCTTTACAGAAAATGTCTGCCACTCCCTGGGCTAGTGAATGCCACCACCCACTATTCCCCGGCCCCTACCTAATGACCATTTAACATTTTTAAGCCATAAAACATTTTAAGCTTTCTAGAACAAGGCACGAGACACTGCTTAGAACCCTGTATCCCCGGCGTACCTTTCTGGCAGTGACTATGAATCCAACATCGTTCGACAAACTGCCCGTTGATGACGGTGGCGGGGCAGTTGGTCTTGCCCTTCGCGGTACCCGGACAGATGTCTCCACACTCCTCGTTGTCATCTTTGTTCAACACGATGTAATTATCCTCCACGGAATCCAGGATACGGGACCAGTCGATAGTGGCCAAGTAACAGAGCTCATTGTTCTTCTCGATGCGGACAGAACCCCGGGTGATGTTCATCAGGTTGTAGAGGCCGAGTTCCTTGAGGTGAACCATCTCGAAGATGACCAGCGCGTAGTTAAAGAACAGTCGTGATCCCCGGATGACCGTGAGGTTGGGGAACAGGTCCTTCAGGCTCTCGAGCCCATAGACCCGGAAGAGCAGCAAGTAATCAGTGATCATGATGAGTTTGGGGAAACTGAGGTCTCGGAAATCTTCGGGCCTCGTTTTGAACATCAAGAGTATCTGCAAGTGTCCTTCGATGACAGAGCAATTCTCCAGCTCATGCAACCTAGTGAGGTTGTTCCGGATATCCATGCCGGGACACACTACAAGAGAAAATGAACAGAAAGCAAGACAGGTGAGCAGACGCACGGTGGATGCATCAGAAGGATCAGGGGCAGAGCCGGCTTCATGGACAGGAAACCTGGGCCCTGTGTTTTCATCCCGGGCCCTGTAAACTCTGCAGCCAGCCGGGATGAGTAGCTTTCTCTGTAAAGTACCCATGCCTAAGTAATTACTTTCAAAACGCCAAGAAAATAATTCTTTTGGCAAGCCCTGTTAAAATCCTTAAAATCACCACCTCTGAAATGATGCAGTCGGGACAATGGGATTACAGGGGATTGAGTAACGCGGCAGGTGCAGAAGGAGAAAGGGGAACTGTCTCCAGTGCGTCAACATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAGGTGCCCGCGGTCAGAAATGGGGCAAGGAAAGCTAAATGTATTTGTTTTGTCAATCCTCCCACCTCGCTGGCTGACTTTCCTTCCCGGACTGCTCTCCTGACCTGCAATCAAGACCTAATTACCTTTTACCTGGGTGTGGTGAGGGCTTCCCAGGGAGCCCGATCTCCATTGCCCAAATGCCCTGAGTTCTCATTCTCCTGAAGGCGGTCCCTCCCAGGCCCCAACGCCCACCATGGCTCCCCATCATCCTGCACTTCCCTCAAGATTCTGCCCCTACATCCCCTGCACACCACTAAACAGGCCTGCCCACAACTCTTGCACAACTCCAAGACTCCTATCCTCCTCTGTAACATGGCTTATATGGAAGAAGAAGTGAAACAACTCAGGGCAAGCACTCAAACAGTGCCTGAGACATAGTAAGTGCTGCACTAATGTCAGCTATTTTGTTGTTTGTTGTTGTTGTTCTTCTTGCTGTTGTTTATTCCCCCAAACATATAACAGTCATCTCTAGGCTAGTCTATCTTTTGGCTGGCGAAGTGCTTTGTACCTTAGCTCCCTATTTCTAAATCCAGCCCATCATGCTTCAAGATATCCAGTTCAAATGCTGCCTCCTCCTCCAGGCAGCCGTCCCTGATTTCCTTTCCTTGGCACACCTATTTGCGTGTTTCTCCTCCTTGTGTCCCTTACACCTGAGTTAACGTTTTTCAAAATTGAAGTCTTTAGATGGCTTCTCTCTGCCAACACACCCACACACCCACACACACACACACACACACACCGCCTCCCCAACACACACACCACAGTCCTCAGCACCTAGAATATAAGGCTCAGTATACAACCCCTGCTTATTTTGTTCCAAAACACTAAACCTTCCACCAATATCTTTGAGGAAAACAGATTGTTCTAAAGAAGAATAGTAAATCCTCTAAAAAAAAAAAAAATCCACCCTGAGAATTACCCACAAAAGAAGCACAAATTAGAAAAAACAATAACAACGACAAAACACAGCAAAAGCAAACAAATGGGAAAAAAAAAGTAGCAGTGATCCTGGATCACATTCCATGCAGCAAATGGATTAGGCTAAGTCGAGAAAACACACACACACACACACACACACACACACACACAC
Task1_train_26368
Gene INSR (insulin receptor) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Leprechaunism syndrome
TGGGTGGATCACCTGAGAGTTCGAGACCAGCCTGGTCAACGTAGTGAAATCTCGTCTCTACTAACAATACAAAAATTAGCTGGGCTTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAACCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATCGCACTCCAGTCTTAACAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTAAAATATAAAATGTAGAGAAAAAAAACCTTTCATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAAAGAAATGCAAATAGAAACAATGACAACACGTCAGCTCCTCCCTCCCGCAGTAAATTATGAAAGATTTTTCAAATAACACTCAAAGCTGGCCAAGGTGTTCCCTCTCCTCCAAAGCTAGGAGGAGTGGCCGTTGGCACAACATTTCCGGAACACCATTTGTCAATCTGCACCAAGAGCCTCTGACCCAGAAATTGCACTTCTGGAAAGCAAGCCTAAAGAAACAACTGCTAGATAAAGCTTTGACTCTAAAATGTTCATCACTCTCTTTGTGAAAACTAGAAATTATCTTTTTTTTTTTTTTTTTTTGAGAAGGAGTTTCCCTCTGGTTGCCCAGGGTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCGCCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGTTGGTCTCGAACTCCTGACCTCAAGTGGTCCACCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCGGCCTGGAAATCATCTTAATGCCCAATAACAGGAATGGTTAAGGAAACCTTCAGTAGACACGACAGATTCCTGAAGATCACTAGAAGGAACAACCCCCAATAAACTACTCTCGGCGACATGCGTTGTGGAATAAGATGAATGTTTTGCTTTTTTTTCGTTTACAAGTGTCTTTTTCCAAATGTCTATTATAAGCAATATCACTTCTATAATCAGATAAGAACTAAACTATTTTTTTAAAAAAACCGAATCTACAGTTTTCCACTCCTTTTCCTCTCCCAAGCAAGAAGAACATTCACTGACTAGCACAGGCGGTGGCAAACTGCTGCCCTCGAGCAAAATCCGGCCCACGACTTGTTTTTGTAAATAAAGTTTTATTGAAACACAGCCACAGTCATACATTTATGCATGCCTGTGGCTGCTTGTCCAATACAGTGGCAGAATTGAGTCGTTGCATCAGAGACCATATGGCCTGCAAAATCTGAAGTATCTACTATCTGAGTCTTTACAGAAAATGTCTGCCACTCCCTGGGCTAGTGAATGCCACCACCCACTATTCCCCGGCCCCTACCTAATGACCATTTAACATTTTTAAGCCATAAAACATTTTAAGCTTTCTAGAACAAGGCACGAGACACTGCTTAGAACCCTGTATCCCCGGCGTACCTTTCTGGCAGTGACTATGAGTCCAACATCGTTCGACAAACTGCCCGTTGATGACGGTGGCGGGGCAGTTGGTCTTGCCCTTCGCGGTACCCGGACAGATGTCTCCACACTCCTCGTTGTCATCTTTGTTCAACACGATGTAATTATCCTCCACGGAATCCAGGATACGGGACCAGTCGATAGTGGCCAAGTAACAGAGCTCATTGTTCTTCTCGATGCGGACAGAACCCCGGGTGATGTTCATCAGGTTGTAGAGGCCGAGTTCCTTGAGGTGAACCATCTCGAAGATGACCAGCGCGTAGTTAAAGAACAGTCGTGATCCCCGGATGACCGTGAGGTTGGGGAACAGGTCCTTCAGGCTCTCGAGCCCATAGACCCGGAAGAGCAGCAAGTAATCAGTGATCATGATGAGTTTGGGGAAACTGAGGTCTCGGAAATCTTCGGGCCTCGTTTTGAACATCAAGAGTATCTGCAAGTGTCCTTCGATGACAGAGCAATTCTCCAGCTCATGCAACCTAGTGAGGTTGTTCCGGATATCCATGCCGGGACACACTACAAGAGAAAATGAACAGAAAGCAAGACAGGTGAGCAGACGCACGGTGGATGCATCAGAAGGATCAGGGGCAGAGCCGGCTTCATGGACAGGAAACCTGGGCCCTGTGTTTTCATCCCGGGCCCTGTAAACTCTGCAGCCAGCCGGGATGAGTAGCTTTCTCTGTAAAGTACCCATGCCTAAGTAATTACTTTCAAAACGCCAAGAAAATAATTCTTTTGGCAAGCCCTGTTAAAATCCTTAAAATCACCACCTCTGAAATGATGCAGTCGGGACAATGGGATTACAGGGGATTGAGTAACGCGGCAGGTGCAGAAGGAGAAAGGGGAACTGTCTCCAGTGCGTCAACATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAGGTGCCCGCGGTCAGAAATGGGGCAAGGAAAGCTAAATGTATTTGTTTTGTCAATCCTCCCACCTCGCTGGCTGACTTTCCTTCCCGGACTGCTCTCCTGACCTGCAATCAAGACCTAATTACCTTTTACCTGGGTGTGGTGAGGGCTTCCCAGGGAGCCCGATCTCCATTGCCCAAATGCCCTGAGTTCTCATTCTCCTGAAGGCGGTCCCTCCCAGGCCCCAACGCCCACCATGGCTCCCCATCATCCTGCACTTCCCTCAAGATTCTGCCCCTACATCCCCTGCACACCACTAAACAGGCCTGCCCACAACTCTTGCACAACTCCAAGACTCCTATCCTCCTCTGTAACATGGCTTATATGGAAGAAGAAGTGAAACAACTCAGGGCAAGCACTCAAACAGTGCCTGAGACATAGTAAGTGCTGCACTAATGTCAGCTATTTTGTTGTTTGTTGTTGTTGTTCTTCTTGCTGTTGTTTATTCCCCCAAACATATAACAGTCATCTCTAGGCTAGTCTATCTTTTGGCTGGCGAAGTGCTTTGTACCTTAGCTCCCTATTTCTAAATCCAGCCCATCATGCTTCAAGATATCCAGTTCAAATGCTGCCTCCTCCTCCAGGCAGCCGTCCCTGATTTCCTTTCCTTGGCACACCTATTTGCGTGTTTCTCCTCCTTGTGTCCCTTACACCTGAGTTAACGTTTTTCAAAATTGAAGTCTTTAGATGGCTTCTCTCTGCCAACACACCCACACACCCACACACACACACACACACACACCGCCTCCCCAACACACACACCACAGTCCTCAGCACCTAGAATATAAGGCTCAGTATACAACCCCTGCTTATTTTGTTCCAAAACACTAAACCTTCCACCAATATCTTTGAGGAAAACAGATTGTTCTAAAGAAGAATAGTAAATCCTCTAAAAAAAAAAAAAATCCACCCTGAGAATTACCCACAAAAGAAGCACAAATTAGAAAAAACAATAACAACGACAAAACACAGCAAAAGCAAACAAATGGGAAAAAAAAAGTAGCAGTGATCCTGGATCACATTCCATGCAGCAAATGGATTAGGCTAAGTCGAGAAAACACACACACACACACACACACACACACACACACACACACACACACACACTTGCTTGCTAGGAAGTTGGAGGAAAGCCCCAGTACACAACTATGGATTAATCTCCACCCTCCCCTCAACACTGGCTGCCTGGGGTCTGAACCAAGCAGGAACCCTGCAGGGACCAAGCTCAGGCTGGGAGGCAGCTTCAAGAGGACAAGGATGCCAGTCCCAGCCCCCCCACCCCTCCTA
TGGGTGGATCACCTGAGAGTTCGAGACCAGCCTGGTCAACGTAGTGAAATCTCGTCTCTACTAACAATACAAAAATTAGCTGGGCTTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAACCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATCGCACTCCAGTCTTAACAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTAAAATATAAAATGTAGAGAAAAAAAACCTTTCATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAAAGAAATGCAAATAGAAACAATGACAACACGTCAGCTCCTCCCTCCCGCAGTAAATTATGAAAGATTTTTCAAATAACACTCAAAGCTGGCCAAGGTGTTCCCTCTCCTCCAAAGCTAGGAGGAGTGGCCGTTGGCACAACATTTCCGGAACACCATTTGTCAATCTGCACCAAGAGCCTCTGACCCAGAAATTGCACTTCTGGAAAGCAAGCCTAAAGAAACAACTGCTAGATAAAGCTTTGACTCTAAAATGTTCATCACTCTCTTTGTGAAAACTAGAAATTATCTTTTTTTTTTTTTTTTTTTGAGAAGGAGTTTCCCTCTGGTTGCCCAGGGTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCGCCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGTTGGTCTCGAACTCCTGACCTCAAGTGGTCCACCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCGGCCTGGAAATCATCTTAATGCCCAATAACAGGAATGGTTAAGGAAACCTTCAGTAGACACGACAGATTCCTGAAGATCACTAGAAGGAACAACCCCCAATAAACTACTCTCGGCGACATGCGTTGTGGAATAAGATGAATGTTTTGCTTTTTTTTCGTTTACAAGTGTCTTTTTCCAAATGTCTATTATAAGCAATATCACTTCTATAATCAGATAAGAACTAAACTATTTTTTTAAAAAAACCGAATCTACAGTTTTCCACTCCTTTTCCTCTCCCAAGCAAGAAGAACATTCACTGACTAGCACAGGCGGTGGCAAACTGCTGCCCTCGAGCAAAATCCGGCCCACGACTTGTTTTTGTAAATAAAGTTTTATTGAAACACAGCCACAGTCATACATTTATGCATGCCTGTGGCTGCTTGTCCAATACAGTGGCAGAATTGAGTCGTTGCATCAGAGACCATATGGCCTGCAAAATCTGAAGTATCTACTATCTGAGTCTTTACAGAAAATGTCTGCCACTCCCTGGGCTAGTGAATGCCACCACCCACTATTCCCCGGCCCCTACCTAATGACCATTTAACATTTTTAAGCCATAAAACATTTTAAGCTTTCTAGAACAAGGCACGAGACACTGCTTAGAACCCTGTATCCCCGGCGTACCTTTCTGGCAGTGACTATGAGTCCAACATCGTTCGACAAACTGCCCGTTGATGACGGTGGCGGGGCAGTTGGTCTTGCCCTTCGCGGTACCCGGACAGATGTCTCCACACTCCTCGTTGTCATCTTTGTTCAACACGATGTAATTATCCTCCACGGAATCCAGGATACGGGACCAGTCGATAGTGGCCAAGTAACAGAGCTCATTGTTCTTCTCCATGCGGACAGAACCCCGGGTGATGTTCATCAGGTTGTAGAGGCCGAGTTCCTTGAGGTGAACCATCTCGAAGATGACCAGCGCGTAGTTAAAGAACAGTCGTGATCCCCGGATGACCGTGAGGTTGGGGAACAGGTCCTTCAGGCTCTCGAGCCCATAGACCCGGAAGAGCAGCAAGTAATCAGTGATCATGATGAGTTTGGGGAAACTGAGGTCTCGGAAATCTTCGGGCCTCGTTTTGAACATCAAGAGTATCTGCAAGTGTCCTTCGATGACAGAGCAATTCTCCAGCTCATGCAACCTAGTGAGGTTGTTCCGGATATCCATGCCGGGACACACTACAAGAGAAAATGAACAGAAAGCAAGACAGGTGAGCAGACGCACGGTGGATGCATCAGAAGGATCAGGGGCAGAGCCGGCTTCATGGACAGGAAACCTGGGCCCTGTGTTTTCATCCCGGGCCCTGTAAACTCTGCAGCCAGCCGGGATGAGTAGCTTTCTCTGTAAAGTACCCATGCCTAAGTAATTACTTTCAAAACGCCAAGAAAATAATTCTTTTGGCAAGCCCTGTTAAAATCCTTAAAATCACCACCTCTGAAATGATGCAGTCGGGACAATGGGATTACAGGGGATTGAGTAACGCGGCAGGTGCAGAAGGAGAAAGGGGAACTGTCTCCAGTGCGTCAACATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAGGTGCCCGCGGTCAGAAATGGGGCAAGGAAAGCTAAATGTATTTGTTTTGTCAATCCTCCCACCTCGCTGGCTGACTTTCCTTCCCGGACTGCTCTCCTGACCTGCAATCAAGACCTAATTACCTTTTACCTGGGTGTGGTGAGGGCTTCCCAGGGAGCCCGATCTCCATTGCCCAAATGCCCTGAGTTCTCATTCTCCTGAAGGCGGTCCCTCCCAGGCCCCAACGCCCACCATGGCTCCCCATCATCCTGCACTTCCCTCAAGATTCTGCCCCTACATCCCCTGCACACCACTAAACAGGCCTGCCCACAACTCTTGCACAACTCCAAGACTCCTATCCTCCTCTGTAACATGGCTTATATGGAAGAAGAAGTGAAACAACTCAGGGCAAGCACTCAAACAGTGCCTGAGACATAGTAAGTGCTGCACTAATGTCAGCTATTTTGTTGTTTGTTGTTGTTGTTCTTCTTGCTGTTGTTTATTCCCCCAAACATATAACAGTCATCTCTAGGCTAGTCTATCTTTTGGCTGGCGAAGTGCTTTGTACCTTAGCTCCCTATTTCTAAATCCAGCCCATCATGCTTCAAGATATCCAGTTCAAATGCTGCCTCCTCCTCCAGGCAGCCGTCCCTGATTTCCTTTCCTTGGCACACCTATTTGCGTGTTTCTCCTCCTTGTGTCCCTTACACCTGAGTTAACGTTTTTCAAAATTGAAGTCTTTAGATGGCTTCTCTCTGCCAACACACCCACACACCCACACACACACACACACACACACCGCCTCCCCAACACACACACCACAGTCCTCAGCACCTAGAATATAAGGCTCAGTATACAACCCCTGCTTATTTTGTTCCAAAACACTAAACCTTCCACCAATATCTTTGAGGAAAACAGATTGTTCTAAAGAAGAATAGTAAATCCTCTAAAAAAAAAAAAAATCCACCCTGAGAATTACCCACAAAAGAAGCACAAATTAGAAAAAACAATAACAACGACAAAACACAGCAAAAGCAAACAAATGGGAAAAAAAAAGTAGCAGTGATCCTGGATCACATTCCATGCAGCAAATGGATTAGGCTAAGTCGAGAAAACACACACACACACACACACACACACACACACACACACACACACACACACTTGCTTGCTAGGAAGTTGGAGGAAAGCCCCAGTACACAACTATGGATTAATCTCCACCCTCCCCTCAACACTGGCTGCCTGGGGTCTGAACCAAGCAGGAACCCTGCAGGGACCAAGCTCAGGCTGGGAGGCAGCTTCAAGAGGACAAGGATGCCAGTCCCAGCCCCCCCACCCCTCCTA
Task1_train_26369
Consider this mutation in INSR (insulin receptor) on Chromosome 19. Is this a benign change or a disease-causing variant?
Pathogenic; Rabson-Mendenhall syndrome
TGAAATCTCGTCTCTACTAACAATACAAAAATTAGCTGGGCTTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAACCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATCGCACTCCAGTCTTAACAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTAAAATATAAAATGTAGAGAAAAAAAACCTTTCATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAAAGAAATGCAAATAGAAACAATGACAACACGTCAGCTCCTCCCTCCCGCAGTAAATTATGAAAGATTTTTCAAATAACACTCAAAGCTGGCCAAGGTGTTCCCTCTCCTCCAAAGCTAGGAGGAGTGGCCGTTGGCACAACATTTCCGGAACACCATTTGTCAATCTGCACCAAGAGCCTCTGACCCAGAAATTGCACTTCTGGAAAGCAAGCCTAAAGAAACAACTGCTAGATAAAGCTTTGACTCTAAAATGTTCATCACTCTCTTTGTGAAAACTAGAAATTATCTTTTTTTTTTTTTTTTTTTGAGAAGGAGTTTCCCTCTGGTTGCCCAGGGTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCGCCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGTTGGTCTCGAACTCCTGACCTCAAGTGGTCCACCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCGGCCTGGAAATCATCTTAATGCCCAATAACAGGAATGGTTAAGGAAACCTTCAGTAGACACGACAGATTCCTGAAGATCACTAGAAGGAACAACCCCCAATAAACTACTCTCGGCGACATGCGTTGTGGAATAAGATGAATGTTTTGCTTTTTTTTCGTTTACAAGTGTCTTTTTCCAAATGTCTATTATAAGCAATATCACTTCTATAATCAGATAAGAACTAAACTATTTTTTTAAAAAAACCGAATCTACAGTTTTCCACTCCTTTTCCTCTCCCAAGCAAGAAGAACATTCACTGACTAGCACAGGCGGTGGCAAACTGCTGCCCTCGAGCAAAATCCGGCCCACGACTTGTTTTTGTAAATAAAGTTTTATTGAAACACAGCCACAGTCATACATTTATGCATGCCTGTGGCTGCTTGTCCAATACAGTGGCAGAATTGAGTCGTTGCATCAGAGACCATATGGCCTGCAAAATCTGAAGTATCTACTATCTGAGTCTTTACAGAAAATGTCTGCCACTCCCTGGGCTAGTGAATGCCACCACCCACTATTCCCCGGCCCCTACCTAATGACCATTTAACATTTTTAAGCCATAAAACATTTTAAGCTTTCTAGAACAAGGCACGAGACACTGCTTAGAACCCTGTATCCCCGGCGTACCTTTCTGGCAGTGACTATGAGTCCAACATCGTTCGACAAACTGCCCGTTGATGACGGTGGCGGGGCAGTTGGTCTTGCCCTTCGCGGTACCCGGACAGATGTCTCCACACTCCTCGTTGTCATCTTTGTTCAACACGATGTAATTATCCTCCACGGAATCCAGGATACGGGACCAGTCGATAGTGGCCAAGTAACAGAGCTCATTGTTCTTCTCGATGCGGACAGAACCCCGGGTGATGTTCATCAGGTTGTAGAGGCCGAGTTCCTTGAGGTGAACCATCTCGAAGATGACCAGCGCGTAGTTAAAGAACAGTCGTGATCCCCGGATGACCGTGAGGTTGGGGAACAGGTCCTTCAGGCTCTCGAGCCCATAGACCCGGAAGAGCAGCAAGTAATCAGTGATCATGATGAGTTTGGGGAAACTGAGGTCTCGGAAATCTTCGGGCCTCGTTTTGAACATCAAGAGTATCTGCAAGTGTCCTTCGATGACAGAGCAATTCTCCAGCTCATGCAACCTAGTGAGGTTGTTCCGGATATCCATGCCGGGACACACTACAAGAGAAAATGAACAGAAAGCAAGACAGGTGAGCAGACGCACGGTGGATGCATCAGAAGGATCAGGGGCAGAGCCGGCTTCATGGACAGGAAACCTGGGCCCTGTGTTTTCATCCCGGGCCCTGTAAACTCTGCAGCCAGCCGGGATGAGTAGCTTTCTCTGTAAAGTACCCATGCCTAAGTAATTACTTTCAAAACGCCAAGAAAATAATTCTTTTGGCAAGCCCTGTTAAAATCCTTAAAATCACCACCTCTGAAATGATGCAGTCGGGACAATGGGATTACAGGGGATTGAGTAACGCGGCAGGTGCAGAAGGAGAAAGGGGAACTGTCTCCAGTGCGTCAACATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAGGTGCCCGCGGTCAGAAATGGGGCAAGGAAAGCTAAATGTATTTGTTTTGTCAATCCTCCCACCTCGCTGGCTGACTTTCCTTCCCGGACTGCTCTCCTGACCTGCAATCAAGACCTAATTACCTTTTACCTGGGTGTGGTGAGGGCTTCCCAGGGAGCCCGATCTCCATTGCCCAAATGCCCTGAGTTCTCATTCTCCTGAAGGCGGTCCCTCCCAGGCCCCAACGCCCACCATGGCTCCCCATCATCCTGCACTTCCCTCAAGATTCTGCCCCTACATCCCCTGCACACCACTAAACAGGCCTGCCCACAACTCTTGCACAACTCCAAGACTCCTATCCTCCTCTGTAACATGGCTTATATGGAAGAAGAAGTGAAACAACTCAGGGCAAGCACTCAAACAGTGCCTGAGACATAGTAAGTGCTGCACTAATGTCAGCTATTTTGTTGTTTGTTGTTGTTGTTCTTCTTGCTGTTGTTTATTCCCCCAAACATATAACAGTCATCTCTAGGCTAGTCTATCTTTTGGCTGGCGAAGTGCTTTGTACCTTAGCTCCCTATTTCTAAATCCAGCCCATCATGCTTCAAGATATCCAGTTCAAATGCTGCCTCCTCCTCCAGGCAGCCGTCCCTGATTTCCTTTCCTTGGCACACCTATTTGCGTGTTTCTCCTCCTTGTGTCCCTTACACCTGAGTTAACGTTTTTCAAAATTGAAGTCTTTAGATGGCTTCTCTCTGCCAACACACCCACACACCCACACACACACACACACACACACCGCCTCCCCAACACACACACCACAGTCCTCAGCACCTAGAATATAAGGCTCAGTATACAACCCCTGCTTATTTTGTTCCAAAACACTAAACCTTCCACCAATATCTTTGAGGAAAACAGATTGTTCTAAAGAAGAATAGTAAATCCTCTAAAAAAAAAAAAAATCCACCCTGAGAATTACCCACAAAAGAAGCACAAATTAGAAAAAACAATAACAACGACAAAACACAGCAAAAGCAAACAAATGGGAAAAAAAAAGTAGCAGTGATCCTGGATCACATTCCATGCAGCAAATGGATTAGGCTAAGTCGAGAAAACACACACACACACACACACACACACACACACACACACACACACACACACTTGCTTGCTAGGAAGTTGGAGGAAAGCCCCAGTACACAACTATGGATTAATCTCCACCCTCCCCTCAACACTGGCTGCCTGGGGTCTGAACCAAGCAGGAACCCTGCAGGGACCAAGCTCAGGCTGGGAGGCAGCTTCAAGAGGACAAGGATGCCAGTCCCAGCCCCCCCACCCCTCCTAGTCAGGGACCCAACCCCAGTCTGAGGCTCCCAGTCAGTCACATC
TGAAATCTCGTCTCTACTAACAATACAAAAATTAGCTGGGCTTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAACCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATCGCACTCCAGTCTTAACAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTAAAATATAAAATGTAGAGAAAAAAAACCTTTCATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAAAGAAATGCAAATAGAAACAATGACAACACGTCAGCTCCTCCCTCCCGCAGTAAATTATGAAAGATTTTTCAAATAACACTCAAAGCTGGCCAAGGTGTTCCCTCTCCTCCAAAGCTAGGAGGAGTGGCCGTTGGCACAACATTTCCGGAACACCATTTGTCAATCTGCACCAAGAGCCTCTGACCCAGAAATTGCACTTCTGGAAAGCAAGCCTAAAGAAACAACTGCTAGATAAAGCTTTGACTCTAAAATGTTCATCACTCTCTTTGTGAAAACTAGAAATTATCTTTTTTTTTTTTTTTTTTTGAGAAGGAGTTTCCCTCTGGTTGCCCAGGGTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCGCCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGTTGGTCTCGAACTCCTGACCTCAAGTGGTCCACCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCGGCCTGGAAATCATCTTAATGCCCAATAACAGGAATGGTTAAGGAAACCTTCAGTAGACACGACAGATTCCTGAAGATCACTAGAAGGAACAACCCCCAATAAACTACTCTCGGCGACATGCGTTGTGGAATAAGATGAATGTTTTGCTTTTTTTTCGTTTACAAGTGTCTTTTTCCAAATGTCTATTATAAGCAATATCACTTCTATAATCAGATAAGAACTAAACTATTTTTTTAAAAAAACCGAATCTACAGTTTTCCACTCCTTTTCCTCTCCCAAGCAAGAAGAACATTCACTGACTAGCACAGGCGGTGGCAAACTGCTGCCCTCGAGCAAAATCCGGCCCACGACTTGTTTTTGTAAATAAAGTTTTATTGAAACACAGCCACAGTCATACATTTATGCATGCCTGTGGCTGCTTGTCCAATACAGTGGCAGAATTGAGTCGTTGCATCAGAGACCATATGGCCTGCAAAATCTGAAGTATCTACTATCTGAGTCTTTACAGAAAATGTCTGCCACTCCCTGGGCTAGTGAATGCCACCACCCACTATTCCCCGGCCCCTACCTAATGACCATTTAACATTTTTAAGCCATAAAACATTTTAAGCTTTCTAGAACAAGGCACGAGACACTGCTTAGAACCCTGTATCCCCGGCGTACCTTTCTGGCAGTGACTATGAGTCCAACATCGTTCGACAAACTGCCCGTTGATGACGGTGGCGGGGCAGTTGGTCTTGCCCTTCGCGGTACCCGGACAGATGTCTCCACACTCCTCGTTGTCATCTTTGTTCAACACGATGTAATTATCCTCCACGGAATCCAGGATACGGGACCAGTCGATAGTGGCCAAGTAACAGAGCTCATTGTTCTTCTCGATGCGGACAGAACCCCGGGTGATGTTCATCAGGTTGTAGAGGCTGAGTTCCTTGAGGTGAACCATCTCGAAGATGACCAGCGCGTAGTTAAAGAACAGTCGTGATCCCCGGATGACCGTGAGGTTGGGGAACAGGTCCTTCAGGCTCTCGAGCCCATAGACCCGGAAGAGCAGCAAGTAATCAGTGATCATGATGAGTTTGGGGAAACTGAGGTCTCGGAAATCTTCGGGCCTCGTTTTGAACATCAAGAGTATCTGCAAGTGTCCTTCGATGACAGAGCAATTCTCCAGCTCATGCAACCTAGTGAGGTTGTTCCGGATATCCATGCCGGGACACACTACAAGAGAAAATGAACAGAAAGCAAGACAGGTGAGCAGACGCACGGTGGATGCATCAGAAGGATCAGGGGCAGAGCCGGCTTCATGGACAGGAAACCTGGGCCCTGTGTTTTCATCCCGGGCCCTGTAAACTCTGCAGCCAGCCGGGATGAGTAGCTTTCTCTGTAAAGTACCCATGCCTAAGTAATTACTTTCAAAACGCCAAGAAAATAATTCTTTTGGCAAGCCCTGTTAAAATCCTTAAAATCACCACCTCTGAAATGATGCAGTCGGGACAATGGGATTACAGGGGATTGAGTAACGCGGCAGGTGCAGAAGGAGAAAGGGGAACTGTCTCCAGTGCGTCAACATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAGGTGCCCGCGGTCAGAAATGGGGCAAGGAAAGCTAAATGTATTTGTTTTGTCAATCCTCCCACCTCGCTGGCTGACTTTCCTTCCCGGACTGCTCTCCTGACCTGCAATCAAGACCTAATTACCTTTTACCTGGGTGTGGTGAGGGCTTCCCAGGGAGCCCGATCTCCATTGCCCAAATGCCCTGAGTTCTCATTCTCCTGAAGGCGGTCCCTCCCAGGCCCCAACGCCCACCATGGCTCCCCATCATCCTGCACTTCCCTCAAGATTCTGCCCCTACATCCCCTGCACACCACTAAACAGGCCTGCCCACAACTCTTGCACAACTCCAAGACTCCTATCCTCCTCTGTAACATGGCTTATATGGAAGAAGAAGTGAAACAACTCAGGGCAAGCACTCAAACAGTGCCTGAGACATAGTAAGTGCTGCACTAATGTCAGCTATTTTGTTGTTTGTTGTTGTTGTTCTTCTTGCTGTTGTTTATTCCCCCAAACATATAACAGTCATCTCTAGGCTAGTCTATCTTTTGGCTGGCGAAGTGCTTTGTACCTTAGCTCCCTATTTCTAAATCCAGCCCATCATGCTTCAAGATATCCAGTTCAAATGCTGCCTCCTCCTCCAGGCAGCCGTCCCTGATTTCCTTTCCTTGGCACACCTATTTGCGTGTTTCTCCTCCTTGTGTCCCTTACACCTGAGTTAACGTTTTTCAAAATTGAAGTCTTTAGATGGCTTCTCTCTGCCAACACACCCACACACCCACACACACACACACACACACACCGCCTCCCCAACACACACACCACAGTCCTCAGCACCTAGAATATAAGGCTCAGTATACAACCCCTGCTTATTTTGTTCCAAAACACTAAACCTTCCACCAATATCTTTGAGGAAAACAGATTGTTCTAAAGAAGAATAGTAAATCCTCTAAAAAAAAAAAAAATCCACCCTGAGAATTACCCACAAAAGAAGCACAAATTAGAAAAAACAATAACAACGACAAAACACAGCAAAAGCAAACAAATGGGAAAAAAAAAGTAGCAGTGATCCTGGATCACATTCCATGCAGCAAATGGATTAGGCTAAGTCGAGAAAACACACACACACACACACACACACACACACACACACACACACACACACACTTGCTTGCTAGGAAGTTGGAGGAAAGCCCCAGTACACAACTATGGATTAATCTCCACCCTCCCCTCAACACTGGCTGCCTGGGGTCTGAACCAAGCAGGAACCCTGCAGGGACCAAGCTCAGGCTGGGAGGCAGCTTCAAGAGGACAAGGATGCCAGTCCCAGCCCCCCCACCCCTCCTAGTCAGGGACCCAACCCCAGTCTGAGGCTCCCAGTCAGTCACATC
Task1_train_26370
This genomic variant is located on Chromosome 19, within the INSR (insulin receptor) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Leprechaunism syndrome
TGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAACCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATCGCACTCCAGTCTTAACAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTAAAATATAAAATGTAGAGAAAAAAAACCTTTCATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAAAGAAATGCAAATAGAAACAATGACAACACGTCAGCTCCTCCCTCCCGCAGTAAATTATGAAAGATTTTTCAAATAACACTCAAAGCTGGCCAAGGTGTTCCCTCTCCTCCAAAGCTAGGAGGAGTGGCCGTTGGCACAACATTTCCGGAACACCATTTGTCAATCTGCACCAAGAGCCTCTGACCCAGAAATTGCACTTCTGGAAAGCAAGCCTAAAGAAACAACTGCTAGATAAAGCTTTGACTCTAAAATGTTCATCACTCTCTTTGTGAAAACTAGAAATTATCTTTTTTTTTTTTTTTTTTTGAGAAGGAGTTTCCCTCTGGTTGCCCAGGGTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCGCCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGTTGGTCTCGAACTCCTGACCTCAAGTGGTCCACCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCGGCCTGGAAATCATCTTAATGCCCAATAACAGGAATGGTTAAGGAAACCTTCAGTAGACACGACAGATTCCTGAAGATCACTAGAAGGAACAACCCCCAATAAACTACTCTCGGCGACATGCGTTGTGGAATAAGATGAATGTTTTGCTTTTTTTTCGTTTACAAGTGTCTTTTTCCAAATGTCTATTATAAGCAATATCACTTCTATAATCAGATAAGAACTAAACTATTTTTTTAAAAAAACCGAATCTACAGTTTTCCACTCCTTTTCCTCTCCCAAGCAAGAAGAACATTCACTGACTAGCACAGGCGGTGGCAAACTGCTGCCCTCGAGCAAAATCCGGCCCACGACTTGTTTTTGTAAATAAAGTTTTATTGAAACACAGCCACAGTCATACATTTATGCATGCCTGTGGCTGCTTGTCCAATACAGTGGCAGAATTGAGTCGTTGCATCAGAGACCATATGGCCTGCAAAATCTGAAGTATCTACTATCTGAGTCTTTACAGAAAATGTCTGCCACTCCCTGGGCTAGTGAATGCCACCACCCACTATTCCCCGGCCCCTACCTAATGACCATTTAACATTTTTAAGCCATAAAACATTTTAAGCTTTCTAGAACAAGGCACGAGACACTGCTTAGAACCCTGTATCCCCGGCGTACCTTTCTGGCAGTGACTATGAGTCCAACATCGTTCGACAAACTGCCCGTTGATGACGGTGGCGGGGCAGTTGGTCTTGCCCTTCGCGGTACCCGGACAGATGTCTCCACACTCCTCGTTGTCATCTTTGTTCAACACGATGTAATTATCCTCCACGGAATCCAGGATACGGGACCAGTCGATAGTGGCCAAGTAACAGAGCTCATTGTTCTTCTCGATGCGGACAGAACCCCGGGTGATGTTCATCAGGTTGTAGAGGCCGAGTTCCTTGAGGTGAACCATCTCGAAGATGACCAGCGCGTAGTTAAAGAACAGTCGTGATCCCCGGATGACCGTGAGGTTGGGGAACAGGTCCTTCAGGCTCTCGAGCCCATAGACCCGGAAGAGCAGCAAGTAATCAGTGATCATGATGAGTTTGGGGAAACTGAGGTCTCGGAAATCTTCGGGCCTCGTTTTGAACATCAAGAGTATCTGCAAGTGTCCTTCGATGACAGAGCAATTCTCCAGCTCATGCAACCTAGTGAGGTTGTTCCGGATATCCATGCCGGGACACACTACAAGAGAAAATGAACAGAAAGCAAGACAGGTGAGCAGACGCACGGTGGATGCATCAGAAGGATCAGGGGCAGAGCCGGCTTCATGGACAGGAAACCTGGGCCCTGTGTTTTCATCCCGGGCCCTGTAAACTCTGCAGCCAGCCGGGATGAGTAGCTTTCTCTGTAAAGTACCCATGCCTAAGTAATTACTTTCAAAACGCCAAGAAAATAATTCTTTTGGCAAGCCCTGTTAAAATCCTTAAAATCACCACCTCTGAAATGATGCAGTCGGGACAATGGGATTACAGGGGATTGAGTAACGCGGCAGGTGCAGAAGGAGAAAGGGGAACTGTCTCCAGTGCGTCAACATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAGGTGCCCGCGGTCAGAAATGGGGCAAGGAAAGCTAAATGTATTTGTTTTGTCAATCCTCCCACCTCGCTGGCTGACTTTCCTTCCCGGACTGCTCTCCTGACCTGCAATCAAGACCTAATTACCTTTTACCTGGGTGTGGTGAGGGCTTCCCAGGGAGCCCGATCTCCATTGCCCAAATGCCCTGAGTTCTCATTCTCCTGAAGGCGGTCCCTCCCAGGCCCCAACGCCCACCATGGCTCCCCATCATCCTGCACTTCCCTCAAGATTCTGCCCCTACATCCCCTGCACACCACTAAACAGGCCTGCCCACAACTCTTGCACAACTCCAAGACTCCTATCCTCCTCTGTAACATGGCTTATATGGAAGAAGAAGTGAAACAACTCAGGGCAAGCACTCAAACAGTGCCTGAGACATAGTAAGTGCTGCACTAATGTCAGCTATTTTGTTGTTTGTTGTTGTTGTTCTTCTTGCTGTTGTTTATTCCCCCAAACATATAACAGTCATCTCTAGGCTAGTCTATCTTTTGGCTGGCGAAGTGCTTTGTACCTTAGCTCCCTATTTCTAAATCCAGCCCATCATGCTTCAAGATATCCAGTTCAAATGCTGCCTCCTCCTCCAGGCAGCCGTCCCTGATTTCCTTTCCTTGGCACACCTATTTGCGTGTTTCTCCTCCTTGTGTCCCTTACACCTGAGTTAACGTTTTTCAAAATTGAAGTCTTTAGATGGCTTCTCTCTGCCAACACACCCACACACCCACACACACACACACACACACACCGCCTCCCCAACACACACACCACAGTCCTCAGCACCTAGAATATAAGGCTCAGTATACAACCCCTGCTTATTTTGTTCCAAAACACTAAACCTTCCACCAATATCTTTGAGGAAAACAGATTGTTCTAAAGAAGAATAGTAAATCCTCTAAAAAAAAAAAAAATCCACCCTGAGAATTACCCACAAAAGAAGCACAAATTAGAAAAAACAATAACAACGACAAAACACAGCAAAAGCAAACAAATGGGAAAAAAAAAGTAGCAGTGATCCTGGATCACATTCCATGCAGCAAATGGATTAGGCTAAGTCGAGAAAACACACACACACACACACACACACACACACACACACACACACACACACACTTGCTTGCTAGGAAGTTGGAGGAAAGCCCCAGTACACAACTATGGATTAATCTCCACCCTCCCCTCAACACTGGCTGCCTGGGGTCTGAACCAAGCAGGAACCCTGCAGGGACCAAGCTCAGGCTGGGAGGCAGCTTCAAGAGGACAAGGATGCCAGTCCCAGCCCCCCCACCCCTCCTAGTCAGGGACCCAACCCCAGTCTGAGGCTCCCAGTCAGTCACATCAACAGCTTCCACATCCAGAGATGTCAAAGAACCCCGCGTGCCATTGGTGCCTCCCA
TGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAACCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCATCGCACTCCAGTCTTAACAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATTAAAATATAAAATGTAGAGAAAAAAAACCTTTCATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAAAGAAATGCAAATAGAAACAATGACAACACGTCAGCTCCTCCCTCCCGCAGTAAATTATGAAAGATTTTTCAAATAACACTCAAAGCTGGCCAAGGTGTTCCCTCTCCTCCAAAGCTAGGAGGAGTGGCCGTTGGCACAACATTTCCGGAACACCATTTGTCAATCTGCACCAAGAGCCTCTGACCCAGAAATTGCACTTCTGGAAAGCAAGCCTAAAGAAACAACTGCTAGATAAAGCTTTGACTCTAAAATGTTCATCACTCTCTTTGTGAAAACTAGAAATTATCTTTTTTTTTTTTTTTTTTTGAGAAGGAGTTTCCCTCTGGTTGCCCAGGGTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCGCCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGTTGGTCTCGAACTCCTGACCTCAAGTGGTCCACCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCGGCCTGGAAATCATCTTAATGCCCAATAACAGGAATGGTTAAGGAAACCTTCAGTAGACACGACAGATTCCTGAAGATCACTAGAAGGAACAACCCCCAATAAACTACTCTCGGCGACATGCGTTGTGGAATAAGATGAATGTTTTGCTTTTTTTTCGTTTACAAGTGTCTTTTTCCAAATGTCTATTATAAGCAATATCACTTCTATAATCAGATAAGAACTAAACTATTTTTTTAAAAAAACCGAATCTACAGTTTTCCACTCCTTTTCCTCTCCCAAGCAAGAAGAACATTCACTGACTAGCACAGGCGGTGGCAAACTGCTGCCCTCGAGCAAAATCCGGCCCACGACTTGTTTTTGTAAATAAAGTTTTATTGAAACACAGCCACAGTCATACATTTATGCATGCCTGTGGCTGCTTGTCCAATACAGTGGCAGAATTGAGTCGTTGCATCAGAGACCATATGGCCTGCAAAATCTGAAGTATCTACTATCTGAGTCTTTACAGAAAATGTCTGCCACTCCCTGGGCTAGTGAATGCCACCACCCACTATTCCCCGGCCCCTACCTAATGACCATTTAACATTTTTAAGCCATAAAACATTTTAAGCTTTCTAGAACAAGGCACGAGACACTGCTTAGAACCCTGTATCCCCGGCGTACCTTTCTGGCAGTGACTATGAGTCCAACATCGTTCGACAAACTGCCCGTTGATGACGGTGGCGGGGCAGTTGGTCTTGCCCTTCGCGGTACCCGGACAGATGTCTCCACACTCCTCGTTGTCATCTTTGTTCAACACGATGTAATTATCCTCCACGGAATCCAGGATACGGGACCAGTCGATAGTGGCCAAGTAACAGAGCTCATTGTTCTTCTCGATGCGGACAGAACCCCGGGTGATGTTCATCAGGTTGTAGAGGCCGAGTTCCTTGAGGTGAACCATCTCGAAGATGACCAGCGCGTAGTTAAAGAACAGTGGTGATCCCCGGATGACCGTGAGGTTGGGGAACAGGTCCTTCAGGCTCTCGAGCCCATAGACCCGGAAGAGCAGCAAGTAATCAGTGATCATGATGAGTTTGGGGAAACTGAGGTCTCGGAAATCTTCGGGCCTCGTTTTGAACATCAAGAGTATCTGCAAGTGTCCTTCGATGACAGAGCAATTCTCCAGCTCATGCAACCTAGTGAGGTTGTTCCGGATATCCATGCCGGGACACACTACAAGAGAAAATGAACAGAAAGCAAGACAGGTGAGCAGACGCACGGTGGATGCATCAGAAGGATCAGGGGCAGAGCCGGCTTCATGGACAGGAAACCTGGGCCCTGTGTTTTCATCCCGGGCCCTGTAAACTCTGCAGCCAGCCGGGATGAGTAGCTTTCTCTGTAAAGTACCCATGCCTAAGTAATTACTTTCAAAACGCCAAGAAAATAATTCTTTTGGCAAGCCCTGTTAAAATCCTTAAAATCACCACCTCTGAAATGATGCAGTCGGGACAATGGGATTACAGGGGATTGAGTAACGCGGCAGGTGCAGAAGGAGAAAGGGGAACTGTCTCCAGTGCGTCAACATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAGGTGCCCGCGGTCAGAAATGGGGCAAGGAAAGCTAAATGTATTTGTTTTGTCAATCCTCCCACCTCGCTGGCTGACTTTCCTTCCCGGACTGCTCTCCTGACCTGCAATCAAGACCTAATTACCTTTTACCTGGGTGTGGTGAGGGCTTCCCAGGGAGCCCGATCTCCATTGCCCAAATGCCCTGAGTTCTCATTCTCCTGAAGGCGGTCCCTCCCAGGCCCCAACGCCCACCATGGCTCCCCATCATCCTGCACTTCCCTCAAGATTCTGCCCCTACATCCCCTGCACACCACTAAACAGGCCTGCCCACAACTCTTGCACAACTCCAAGACTCCTATCCTCCTCTGTAACATGGCTTATATGGAAGAAGAAGTGAAACAACTCAGGGCAAGCACTCAAACAGTGCCTGAGACATAGTAAGTGCTGCACTAATGTCAGCTATTTTGTTGTTTGTTGTTGTTGTTCTTCTTGCTGTTGTTTATTCCCCCAAACATATAACAGTCATCTCTAGGCTAGTCTATCTTTTGGCTGGCGAAGTGCTTTGTACCTTAGCTCCCTATTTCTAAATCCAGCCCATCATGCTTCAAGATATCCAGTTCAAATGCTGCCTCCTCCTCCAGGCAGCCGTCCCTGATTTCCTTTCCTTGGCACACCTATTTGCGTGTTTCTCCTCCTTGTGTCCCTTACACCTGAGTTAACGTTTTTCAAAATTGAAGTCTTTAGATGGCTTCTCTCTGCCAACACACCCACACACCCACACACACACACACACACACACCGCCTCCCCAACACACACACCACAGTCCTCAGCACCTAGAATATAAGGCTCAGTATACAACCCCTGCTTATTTTGTTCCAAAACACTAAACCTTCCACCAATATCTTTGAGGAAAACAGATTGTTCTAAAGAAGAATAGTAAATCCTCTAAAAAAAAAAAAAATCCACCCTGAGAATTACCCACAAAAGAAGCACAAATTAGAAAAAACAATAACAACGACAAAACACAGCAAAAGCAAACAAATGGGAAAAAAAAAGTAGCAGTGATCCTGGATCACATTCCATGCAGCAAATGGATTAGGCTAAGTCGAGAAAACACACACACACACACACACACACACACACACACACACACACACACACACTTGCTTGCTAGGAAGTTGGAGGAAAGCCCCAGTACACAACTATGGATTAATCTCCACCCTCCCCTCAACACTGGCTGCCTGGGGTCTGAACCAAGCAGGAACCCTGCAGGGACCAAGCTCAGGCTGGGAGGCAGCTTCAAGAGGACAAGGATGCCAGTCCCAGCCCCCCCACCCCTCCTAGTCAGGGACCCAACCCCAGTCTGAGGCTCCCAGTCAGTCACATCAACAGCTTCCACATCCAGAGATGTCAAAGAACCCCGCGTGCCATTGGTGCCTCCCA
Task1_train_26371
An alteration has been detected in INSR (insulin receptor) on Chromosome 19. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Leprechaunism syndrome
AAACCTTTCATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAAAGAAATGCAAATAGAAACAATGACAACACGTCAGCTCCTCCCTCCCGCAGTAAATTATGAAAGATTTTTCAAATAACACTCAAAGCTGGCCAAGGTGTTCCCTCTCCTCCAAAGCTAGGAGGAGTGGCCGTTGGCACAACATTTCCGGAACACCATTTGTCAATCTGCACCAAGAGCCTCTGACCCAGAAATTGCACTTCTGGAAAGCAAGCCTAAAGAAACAACTGCTAGATAAAGCTTTGACTCTAAAATGTTCATCACTCTCTTTGTGAAAACTAGAAATTATCTTTTTTTTTTTTTTTTTTTGAGAAGGAGTTTCCCTCTGGTTGCCCAGGGTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCGCCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGTTGGTCTCGAACTCCTGACCTCAAGTGGTCCACCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCGGCCTGGAAATCATCTTAATGCCCAATAACAGGAATGGTTAAGGAAACCTTCAGTAGACACGACAGATTCCTGAAGATCACTAGAAGGAACAACCCCCAATAAACTACTCTCGGCGACATGCGTTGTGGAATAAGATGAATGTTTTGCTTTTTTTTCGTTTACAAGTGTCTTTTTCCAAATGTCTATTATAAGCAATATCACTTCTATAATCAGATAAGAACTAAACTATTTTTTTAAAAAAACCGAATCTACAGTTTTCCACTCCTTTTCCTCTCCCAAGCAAGAAGAACATTCACTGACTAGCACAGGCGGTGGCAAACTGCTGCCCTCGAGCAAAATCCGGCCCACGACTTGTTTTTGTAAATAAAGTTTTATTGAAACACAGCCACAGTCATACATTTATGCATGCCTGTGGCTGCTTGTCCAATACAGTGGCAGAATTGAGTCGTTGCATCAGAGACCATATGGCCTGCAAAATCTGAAGTATCTACTATCTGAGTCTTTACAGAAAATGTCTGCCACTCCCTGGGCTAGTGAATGCCACCACCCACTATTCCCCGGCCCCTACCTAATGACCATTTAACATTTTTAAGCCATAAAACATTTTAAGCTTTCTAGAACAAGGCACGAGACACTGCTTAGAACCCTGTATCCCCGGCGTACCTTTCTGGCAGTGACTATGAGTCCAACATCGTTCGACAAACTGCCCGTTGATGACGGTGGCGGGGCAGTTGGTCTTGCCCTTCGCGGTACCCGGACAGATGTCTCCACACTCCTCGTTGTCATCTTTGTTCAACACGATGTAATTATCCTCCACGGAATCCAGGATACGGGACCAGTCGATAGTGGCCAAGTAACAGAGCTCATTGTTCTTCTCGATGCGGACAGAACCCCGGGTGATGTTCATCAGGTTGTAGAGGCCGAGTTCCTTGAGGTGAACCATCTCGAAGATGACCAGCGCGTAGTTAAAGAACAGTCGTGATCCCCGGATGACCGTGAGGTTGGGGAACAGGTCCTTCAGGCTCTCGAGCCCATAGACCCGGAAGAGCAGCAAGTAATCAGTGATCATGATGAGTTTGGGGAAACTGAGGTCTCGGAAATCTTCGGGCCTCGTTTTGAACATCAAGAGTATCTGCAAGTGTCCTTCGATGACAGAGCAATTCTCCAGCTCATGCAACCTAGTGAGGTTGTTCCGGATATCCATGCCGGGACACACTACAAGAGAAAATGAACAGAAAGCAAGACAGGTGAGCAGACGCACGGTGGATGCATCAGAAGGATCAGGGGCAGAGCCGGCTTCATGGACAGGAAACCTGGGCCCTGTGTTTTCATCCCGGGCCCTGTAAACTCTGCAGCCAGCCGGGATGAGTAGCTTTCTCTGTAAAGTACCCATGCCTAAGTAATTACTTTCAAAACGCCAAGAAAATAATTCTTTTGGCAAGCCCTGTTAAAATCCTTAAAATCACCACCTCTGAAATGATGCAGTCGGGACAATGGGATTACAGGGGATTGAGTAACGCGGCAGGTGCAGAAGGAGAAAGGGGAACTGTCTCCAGTGCGTCAACATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAGGTGCCCGCGGTCAGAAATGGGGCAAGGAAAGCTAAATGTATTTGTTTTGTCAATCCTCCCACCTCGCTGGCTGACTTTCCTTCCCGGACTGCTCTCCTGACCTGCAATCAAGACCTAATTACCTTTTACCTGGGTGTGGTGAGGGCTTCCCAGGGAGCCCGATCTCCATTGCCCAAATGCCCTGAGTTCTCATTCTCCTGAAGGCGGTCCCTCCCAGGCCCCAACGCCCACCATGGCTCCCCATCATCCTGCACTTCCCTCAAGATTCTGCCCCTACATCCCCTGCACACCACTAAACAGGCCTGCCCACAACTCTTGCACAACTCCAAGACTCCTATCCTCCTCTGTAACATGGCTTATATGGAAGAAGAAGTGAAACAACTCAGGGCAAGCACTCAAACAGTGCCTGAGACATAGTAAGTGCTGCACTAATGTCAGCTATTTTGTTGTTTGTTGTTGTTGTTCTTCTTGCTGTTGTTTATTCCCCCAAACATATAACAGTCATCTCTAGGCTAGTCTATCTTTTGGCTGGCGAAGTGCTTTGTACCTTAGCTCCCTATTTCTAAATCCAGCCCATCATGCTTCAAGATATCCAGTTCAAATGCTGCCTCCTCCTCCAGGCAGCCGTCCCTGATTTCCTTTCCTTGGCACACCTATTTGCGTGTTTCTCCTCCTTGTGTCCCTTACACCTGAGTTAACGTTTTTCAAAATTGAAGTCTTTAGATGGCTTCTCTCTGCCAACACACCCACACACCCACACACACACACACACACACACCGCCTCCCCAACACACACACCACAGTCCTCAGCACCTAGAATATAAGGCTCAGTATACAACCCCTGCTTATTTTGTTCCAAAACACTAAACCTTCCACCAATATCTTTGAGGAAAACAGATTGTTCTAAAGAAGAATAGTAAATCCTCTAAAAAAAAAAAAAATCCACCCTGAGAATTACCCACAAAAGAAGCACAAATTAGAAAAAACAATAACAACGACAAAACACAGCAAAAGCAAACAAATGGGAAAAAAAAAGTAGCAGTGATCCTGGATCACATTCCATGCAGCAAATGGATTAGGCTAAGTCGAGAAAACACACACACACACACACACACACACACACACACACACACACACACACACTTGCTTGCTAGGAAGTTGGAGGAAAGCCCCAGTACACAACTATGGATTAATCTCCACCCTCCCCTCAACACTGGCTGCCTGGGGTCTGAACCAAGCAGGAACCCTGCAGGGACCAAGCTCAGGCTGGGAGGCAGCTTCAAGAGGACAAGGATGCCAGTCCCAGCCCCCCCACCCCTCCTAGTCAGGGACCCAACCCCAGTCTGAGGCTCCCAGTCAGTCACATCAACAGCTTCCACATCCAGAGATGTCAAAGAACCCCGCGTGCCATTGGTGCCTCCCAGCAAGTTCTGTCCCCATCCCATAGATGAGAAAACTGAAGCTCCAAGAGGCAAAGACCATCACTCAAGGACACACAACTCACCAGTGACTGGCAGGGTTGCCAGACTTAGCAAAGAAAAATGCAGAATGCCTAGTTGAATTTGAATTTCAGATAAGCAATAATACCT
AAACCTTTCATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAAAGAAATGCAAATAGAAACAATGACAACACGTCAGCTCCTCCCTCCCGCAGTAAATTATGAAAGATTTTTCAAATAACACTCAAAGCTGGCCAAGGTGTTCCCTCTCCTCCAAAGCTAGGAGGAGTGGCCGTTGGCACAACATTTCCGGAACACCATTTGTCAATCTGCACCAAGAGCCTCTGACCCAGAAATTGCACTTCTGGAAAGCAAGCCTAAAGAAACAACTGCTAGATAAAGCTTTGACTCTAAAATGTTCATCACTCTCTTTGTGAAAACTAGAAATTATCTTTTTTTTTTTTTTTTTTTGAGAAGGAGTTTCCCTCTGGTTGCCCAGGGTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCGCCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGTTGGTCTCGAACTCCTGACCTCAAGTGGTCCACCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCGGCCTGGAAATCATCTTAATGCCCAATAACAGGAATGGTTAAGGAAACCTTCAGTAGACACGACAGATTCCTGAAGATCACTAGAAGGAACAACCCCCAATAAACTACTCTCGGCGACATGCGTTGTGGAATAAGATGAATGTTTTGCTTTTTTTTCGTTTACAAGTGTCTTTTTCCAAATGTCTATTATAAGCAATATCACTTCTATAATCAGATAAGAACTAAACTATTTTTTTAAAAAAACCGAATCTACAGTTTTCCACTCCTTTTCCTCTCCCAAGCAAGAAGAACATTCACTGACTAGCACAGGCGGTGGCAAACTGCTGCCCTCGAGCAAAATCCGGCCCACGACTTGTTTTTGTAAATAAAGTTTTATTGAAACACAGCCACAGTCATACATTTATGCATGCCTGTGGCTGCTTGTCCAATACAGTGGCAGAATTGAGTCGTTGCATCAGAGACCATATGGCCTGCAAAATCTGAAGTATCTACTATCTGAGTCTTTACAGAAAATGTCTGCCACTCCCTGGGCTAGTGAATGCCACCACCCACTATTCCCCGGCCCCTACCTAATGACCATTTAACATTTTTAAGCCATAAAACATTTTAAGCTTTCTAGAACAAGGCACGAGACACTGCTTAGAACCCTGTATCCCCGGCGTACCTTTCTGGCAGTGACTATGAGTCCAACATCGTTCGACAAACTGCCCGTTGATGACGGTGGCGGGGCAGTTGGTCTTGCCCTTCGCGGTACCCGGACAGATGTCTCCACACTCCTCGTTGTCATCTTTGTTCAACACGATGTAATTATCCTCCACGGAATCCAGGATACGGGACCAGTCGATAGTGGCCAAGTAACAGAGCTCATTGTTCTTCTCGATGCGGACAGAACCCCGGGTGATGTTCATCAGGTTGTAGAGGCCGAGTTCCTTGAGGTGAACCATCTCGAAGATGACCAGCGCGTAGTTAAAGAACAGTCGTGATCCCCGGATGACCGTGAGGTTGGGGAACAGGTCCTTCAGGCTCTCGAGCCCATAGACCCGGAAGAGCAGCAAGTAATCAGTGATCATGATGAGTTTGGGGAAACTGAGGTCTCGGAAATCTTCGGGCCTCGTTTTGAACATCAAGAGTATCTGCAAGTGTCTTTCGATGACAGAGCAATTCTCCAGCTCATGCAACCTAGTGAGGTTGTTCCGGATATCCATGCCGGGACACACTACAAGAGAAAATGAACAGAAAGCAAGACAGGTGAGCAGACGCACGGTGGATGCATCAGAAGGATCAGGGGCAGAGCCGGCTTCATGGACAGGAAACCTGGGCCCTGTGTTTTCATCCCGGGCCCTGTAAACTCTGCAGCCAGCCGGGATGAGTAGCTTTCTCTGTAAAGTACCCATGCCTAAGTAATTACTTTCAAAACGCCAAGAAAATAATTCTTTTGGCAAGCCCTGTTAAAATCCTTAAAATCACCACCTCTGAAATGATGCAGTCGGGACAATGGGATTACAGGGGATTGAGTAACGCGGCAGGTGCAGAAGGAGAAAGGGGAACTGTCTCCAGTGCGTCAACATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAGGTGCCCGCGGTCAGAAATGGGGCAAGGAAAGCTAAATGTATTTGTTTTGTCAATCCTCCCACCTCGCTGGCTGACTTTCCTTCCCGGACTGCTCTCCTGACCTGCAATCAAGACCTAATTACCTTTTACCTGGGTGTGGTGAGGGCTTCCCAGGGAGCCCGATCTCCATTGCCCAAATGCCCTGAGTTCTCATTCTCCTGAAGGCGGTCCCTCCCAGGCCCCAACGCCCACCATGGCTCCCCATCATCCTGCACTTCCCTCAAGATTCTGCCCCTACATCCCCTGCACACCACTAAACAGGCCTGCCCACAACTCTTGCACAACTCCAAGACTCCTATCCTCCTCTGTAACATGGCTTATATGGAAGAAGAAGTGAAACAACTCAGGGCAAGCACTCAAACAGTGCCTGAGACATAGTAAGTGCTGCACTAATGTCAGCTATTTTGTTGTTTGTTGTTGTTGTTCTTCTTGCTGTTGTTTATTCCCCCAAACATATAACAGTCATCTCTAGGCTAGTCTATCTTTTGGCTGGCGAAGTGCTTTGTACCTTAGCTCCCTATTTCTAAATCCAGCCCATCATGCTTCAAGATATCCAGTTCAAATGCTGCCTCCTCCTCCAGGCAGCCGTCCCTGATTTCCTTTCCTTGGCACACCTATTTGCGTGTTTCTCCTCCTTGTGTCCCTTACACCTGAGTTAACGTTTTTCAAAATTGAAGTCTTTAGATGGCTTCTCTCTGCCAACACACCCACACACCCACACACACACACACACACACACCGCCTCCCCAACACACACACCACAGTCCTCAGCACCTAGAATATAAGGCTCAGTATACAACCCCTGCTTATTTTGTTCCAAAACACTAAACCTTCCACCAATATCTTTGAGGAAAACAGATTGTTCTAAAGAAGAATAGTAAATCCTCTAAAAAAAAAAAAAATCCACCCTGAGAATTACCCACAAAAGAAGCACAAATTAGAAAAAACAATAACAACGACAAAACACAGCAAAAGCAAACAAATGGGAAAAAAAAAGTAGCAGTGATCCTGGATCACATTCCATGCAGCAAATGGATTAGGCTAAGTCGAGAAAACACACACACACACACACACACACACACACACACACACACACACACACACTTGCTTGCTAGGAAGTTGGAGGAAAGCCCCAGTACACAACTATGGATTAATCTCCACCCTCCCCTCAACACTGGCTGCCTGGGGTCTGAACCAAGCAGGAACCCTGCAGGGACCAAGCTCAGGCTGGGAGGCAGCTTCAAGAGGACAAGGATGCCAGTCCCAGCCCCCCCACCCCTCCTAGTCAGGGACCCAACCCCAGTCTGAGGCTCCCAGTCAGTCACATCAACAGCTTCCACATCCAGAGATGTCAAAGAACCCCGCGTGCCATTGGTGCCTCCCAGCAAGTTCTGTCCCCATCCCATAGATGAGAAAACTGAAGCTCCAAGAGGCAAAGACCATCACTCAAGGACACACAACTCACCAGTGACTGGCAGGGTTGCCAGACTTAGCAAAGAAAAATGCAGAATGCCTAGTTGAATTTGAATTTCAGATAAGCAATAATACCT
Task1_train_26372
Here is a genetic alteration in INSR (insulin receptor) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Leprechaunism syndrome
CATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAAAGAAATGCAAATAGAAACAATGACAACACGTCAGCTCCTCCCTCCCGCAGTAAATTATGAAAGATTTTTCAAATAACACTCAAAGCTGGCCAAGGTGTTCCCTCTCCTCCAAAGCTAGGAGGAGTGGCCGTTGGCACAACATTTCCGGAACACCATTTGTCAATCTGCACCAAGAGCCTCTGACCCAGAAATTGCACTTCTGGAAAGCAAGCCTAAAGAAACAACTGCTAGATAAAGCTTTGACTCTAAAATGTTCATCACTCTCTTTGTGAAAACTAGAAATTATCTTTTTTTTTTTTTTTTTTTGAGAAGGAGTTTCCCTCTGGTTGCCCAGGGTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCGCCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGTTGGTCTCGAACTCCTGACCTCAAGTGGTCCACCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCGGCCTGGAAATCATCTTAATGCCCAATAACAGGAATGGTTAAGGAAACCTTCAGTAGACACGACAGATTCCTGAAGATCACTAGAAGGAACAACCCCCAATAAACTACTCTCGGCGACATGCGTTGTGGAATAAGATGAATGTTTTGCTTTTTTTTCGTTTACAAGTGTCTTTTTCCAAATGTCTATTATAAGCAATATCACTTCTATAATCAGATAAGAACTAAACTATTTTTTTAAAAAAACCGAATCTACAGTTTTCCACTCCTTTTCCTCTCCCAAGCAAGAAGAACATTCACTGACTAGCACAGGCGGTGGCAAACTGCTGCCCTCGAGCAAAATCCGGCCCACGACTTGTTTTTGTAAATAAAGTTTTATTGAAACACAGCCACAGTCATACATTTATGCATGCCTGTGGCTGCTTGTCCAATACAGTGGCAGAATTGAGTCGTTGCATCAGAGACCATATGGCCTGCAAAATCTGAAGTATCTACTATCTGAGTCTTTACAGAAAATGTCTGCCACTCCCTGGGCTAGTGAATGCCACCACCCACTATTCCCCGGCCCCTACCTAATGACCATTTAACATTTTTAAGCCATAAAACATTTTAAGCTTTCTAGAACAAGGCACGAGACACTGCTTAGAACCCTGTATCCCCGGCGTACCTTTCTGGCAGTGACTATGAGTCCAACATCGTTCGACAAACTGCCCGTTGATGACGGTGGCGGGGCAGTTGGTCTTGCCCTTCGCGGTACCCGGACAGATGTCTCCACACTCCTCGTTGTCATCTTTGTTCAACACGATGTAATTATCCTCCACGGAATCCAGGATACGGGACCAGTCGATAGTGGCCAAGTAACAGAGCTCATTGTTCTTCTCGATGCGGACAGAACCCCGGGTGATGTTCATCAGGTTGTAGAGGCCGAGTTCCTTGAGGTGAACCATCTCGAAGATGACCAGCGCGTAGTTAAAGAACAGTCGTGATCCCCGGATGACCGTGAGGTTGGGGAACAGGTCCTTCAGGCTCTCGAGCCCATAGACCCGGAAGAGCAGCAAGTAATCAGTGATCATGATGAGTTTGGGGAAACTGAGGTCTCGGAAATCTTCGGGCCTCGTTTTGAACATCAAGAGTATCTGCAAGTGTCCTTCGATGACAGAGCAATTCTCCAGCTCATGCAACCTAGTGAGGTTGTTCCGGATATCCATGCCGGGACACACTACAAGAGAAAATGAACAGAAAGCAAGACAGGTGAGCAGACGCACGGTGGATGCATCAGAAGGATCAGGGGCAGAGCCGGCTTCATGGACAGGAAACCTGGGCCCTGTGTTTTCATCCCGGGCCCTGTAAACTCTGCAGCCAGCCGGGATGAGTAGCTTTCTCTGTAAAGTACCCATGCCTAAGTAATTACTTTCAAAACGCCAAGAAAATAATTCTTTTGGCAAGCCCTGTTAAAATCCTTAAAATCACCACCTCTGAAATGATGCAGTCGGGACAATGGGATTACAGGGGATTGAGTAACGCGGCAGGTGCAGAAGGAGAAAGGGGAACTGTCTCCAGTGCGTCAACATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAGGTGCCCGCGGTCAGAAATGGGGCAAGGAAAGCTAAATGTATTTGTTTTGTCAATCCTCCCACCTCGCTGGCTGACTTTCCTTCCCGGACTGCTCTCCTGACCTGCAATCAAGACCTAATTACCTTTTACCTGGGTGTGGTGAGGGCTTCCCAGGGAGCCCGATCTCCATTGCCCAAATGCCCTGAGTTCTCATTCTCCTGAAGGCGGTCCCTCCCAGGCCCCAACGCCCACCATGGCTCCCCATCATCCTGCACTTCCCTCAAGATTCTGCCCCTACATCCCCTGCACACCACTAAACAGGCCTGCCCACAACTCTTGCACAACTCCAAGACTCCTATCCTCCTCTGTAACATGGCTTATATGGAAGAAGAAGTGAAACAACTCAGGGCAAGCACTCAAACAGTGCCTGAGACATAGTAAGTGCTGCACTAATGTCAGCTATTTTGTTGTTTGTTGTTGTTGTTCTTCTTGCTGTTGTTTATTCCCCCAAACATATAACAGTCATCTCTAGGCTAGTCTATCTTTTGGCTGGCGAAGTGCTTTGTACCTTAGCTCCCTATTTCTAAATCCAGCCCATCATGCTTCAAGATATCCAGTTCAAATGCTGCCTCCTCCTCCAGGCAGCCGTCCCTGATTTCCTTTCCTTGGCACACCTATTTGCGTGTTTCTCCTCCTTGTGTCCCTTACACCTGAGTTAACGTTTTTCAAAATTGAAGTCTTTAGATGGCTTCTCTCTGCCAACACACCCACACACCCACACACACACACACACACACACCGCCTCCCCAACACACACACCACAGTCCTCAGCACCTAGAATATAAGGCTCAGTATACAACCCCTGCTTATTTTGTTCCAAAACACTAAACCTTCCACCAATATCTTTGAGGAAAACAGATTGTTCTAAAGAAGAATAGTAAATCCTCTAAAAAAAAAAAAAATCCACCCTGAGAATTACCCACAAAAGAAGCACAAATTAGAAAAAACAATAACAACGACAAAACACAGCAAAAGCAAACAAATGGGAAAAAAAAAGTAGCAGTGATCCTGGATCACATTCCATGCAGCAAATGGATTAGGCTAAGTCGAGAAAACACACACACACACACACACACACACACACACACACACACACACACACACTTGCTTGCTAGGAAGTTGGAGGAAAGCCCCAGTACACAACTATGGATTAATCTCCACCCTCCCCTCAACACTGGCTGCCTGGGGTCTGAACCAAGCAGGAACCCTGCAGGGACCAAGCTCAGGCTGGGAGGCAGCTTCAAGAGGACAAGGATGCCAGTCCCAGCCCCCCCACCCCTCCTAGTCAGGGACCCAACCCCAGTCTGAGGCTCCCAGTCAGTCACATCAACAGCTTCCACATCCAGAGATGTCAAAGAACCCCGCGTGCCATTGGTGCCTCCCAGCAAGTTCTGTCCCCATCCCATAGATGAGAAAACTGAAGCTCCAAGAGGCAAAGACCATCACTCAAGGACACACAACTCACCAGTGACTGGCAGGGTTGCCAGACTTAGCAAAGAAAAATGCAGAATGCCTAGTTGAATTTGAATTTCAGATAAGCAATAATACCTTTTTGAGG
CATGGGTAGAAGAAGACTTTCTAAGTGTAAAGTACAGAAGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAAAGAAATGCAAATAGAAACAATGACAACACGTCAGCTCCTCCCTCCCGCAGTAAATTATGAAAGATTTTTCAAATAACACTCAAAGCTGGCCAAGGTGTTCCCTCTCCTCCAAAGCTAGGAGGAGTGGCCGTTGGCACAACATTTCCGGAACACCATTTGTCAATCTGCACCAAGAGCCTCTGACCCAGAAATTGCACTTCTGGAAAGCAAGCCTAAAGAAACAACTGCTAGATAAAGCTTTGACTCTAAAATGTTCATCACTCTCTTTGTGAAAACTAGAAATTATCTTTTTTTTTTTTTTTTTTTGAGAAGGAGTTTCCCTCTGGTTGCCCAGGGTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCGCCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGTTGGTCTCGAACTCCTGACCTCAAGTGGTCCACCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCGGCCTGGAAATCATCTTAATGCCCAATAACAGGAATGGTTAAGGAAACCTTCAGTAGACACGACAGATTCCTGAAGATCACTAGAAGGAACAACCCCCAATAAACTACTCTCGGCGACATGCGTTGTGGAATAAGATGAATGTTTTGCTTTTTTTTCGTTTACAAGTGTCTTTTTCCAAATGTCTATTATAAGCAATATCACTTCTATAATCAGATAAGAACTAAACTATTTTTTTAAAAAAACCGAATCTACAGTTTTCCACTCCTTTTCCTCTCCCAAGCAAGAAGAACATTCACTGACTAGCACAGGCGGTGGCAAACTGCTGCCCTCGAGCAAAATCCGGCCCACGACTTGTTTTTGTAAATAAAGTTTTATTGAAACACAGCCACAGTCATACATTTATGCATGCCTGTGGCTGCTTGTCCAATACAGTGGCAGAATTGAGTCGTTGCATCAGAGACCATATGGCCTGCAAAATCTGAAGTATCTACTATCTGAGTCTTTACAGAAAATGTCTGCCACTCCCTGGGCTAGTGAATGCCACCACCCACTATTCCCCGGCCCCTACCTAATGACCATTTAACATTTTTAAGCCATAAAACATTTTAAGCTTTCTAGAACAAGGCACGAGACACTGCTTAGAACCCTGTATCCCCGGCGTACCTTTCTGGCAGTGACTATGAGTCCAACATCGTTCGACAAACTGCCCGTTGATGACGGTGGCGGGGCAGTTGGTCTTGCCCTTCGCGGTACCCGGACAGATGTCTCCACACTCCTCGTTGTCATCTTTGTTCAACACGATGTAATTATCCTCCACGGAATCCAGGATACGGGACCAGTCGATAGTGGCCAAGTAACAGAGCTCATTGTTCTTCTCGATGCGGACAGAACCCCGGGTGATGTTCATCAGGTTGTAGAGGCCGAGTTCCTTGAGGTGAACCATCTCGAAGATGACCAGCGCGTAGTTAAAGAACAGTCGTGATCCCCGGATGACCGTGAGGTTGGGGAACAGGTCCTTCAGGCTCTCGAGCCCATAGACCCGGAAGAGCAGCAAGTAATCAGTGATCATGATGAGTTTGGGGAAACTGAGGTCTCGGAAATCTTCGGGCCTCGTTTTGAACATCAAGAGTATCTGCAAGTGTCCTTCGATGGCAGAGCAATTCTCCAGCTCATGCAACCTAGTGAGGTTGTTCCGGATATCCATGCCGGGACACACTACAAGAGAAAATGAACAGAAAGCAAGACAGGTGAGCAGACGCACGGTGGATGCATCAGAAGGATCAGGGGCAGAGCCGGCTTCATGGACAGGAAACCTGGGCCCTGTGTTTTCATCCCGGGCCCTGTAAACTCTGCAGCCAGCCGGGATGAGTAGCTTTCTCTGTAAAGTACCCATGCCTAAGTAATTACTTTCAAAACGCCAAGAAAATAATTCTTTTGGCAAGCCCTGTTAAAATCCTTAAAATCACCACCTCTGAAATGATGCAGTCGGGACAATGGGATTACAGGGGATTGAGTAACGCGGCAGGTGCAGAAGGAGAAAGGGGAACTGTCTCCAGTGCGTCAACATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAGGTGCCCGCGGTCAGAAATGGGGCAAGGAAAGCTAAATGTATTTGTTTTGTCAATCCTCCCACCTCGCTGGCTGACTTTCCTTCCCGGACTGCTCTCCTGACCTGCAATCAAGACCTAATTACCTTTTACCTGGGTGTGGTGAGGGCTTCCCAGGGAGCCCGATCTCCATTGCCCAAATGCCCTGAGTTCTCATTCTCCTGAAGGCGGTCCCTCCCAGGCCCCAACGCCCACCATGGCTCCCCATCATCCTGCACTTCCCTCAAGATTCTGCCCCTACATCCCCTGCACACCACTAAACAGGCCTGCCCACAACTCTTGCACAACTCCAAGACTCCTATCCTCCTCTGTAACATGGCTTATATGGAAGAAGAAGTGAAACAACTCAGGGCAAGCACTCAAACAGTGCCTGAGACATAGTAAGTGCTGCACTAATGTCAGCTATTTTGTTGTTTGTTGTTGTTGTTCTTCTTGCTGTTGTTTATTCCCCCAAACATATAACAGTCATCTCTAGGCTAGTCTATCTTTTGGCTGGCGAAGTGCTTTGTACCTTAGCTCCCTATTTCTAAATCCAGCCCATCATGCTTCAAGATATCCAGTTCAAATGCTGCCTCCTCCTCCAGGCAGCCGTCCCTGATTTCCTTTCCTTGGCACACCTATTTGCGTGTTTCTCCTCCTTGTGTCCCTTACACCTGAGTTAACGTTTTTCAAAATTGAAGTCTTTAGATGGCTTCTCTCTGCCAACACACCCACACACCCACACACACACACACACACACACCGCCTCCCCAACACACACACCACAGTCCTCAGCACCTAGAATATAAGGCTCAGTATACAACCCCTGCTTATTTTGTTCCAAAACACTAAACCTTCCACCAATATCTTTGAGGAAAACAGATTGTTCTAAAGAAGAATAGTAAATCCTCTAAAAAAAAAAAAAATCCACCCTGAGAATTACCCACAAAAGAAGCACAAATTAGAAAAAACAATAACAACGACAAAACACAGCAAAAGCAAACAAATGGGAAAAAAAAAGTAGCAGTGATCCTGGATCACATTCCATGCAGCAAATGGATTAGGCTAAGTCGAGAAAACACACACACACACACACACACACACACACACACACACACACACACACACTTGCTTGCTAGGAAGTTGGAGGAAAGCCCCAGTACACAACTATGGATTAATCTCCACCCTCCCCTCAACACTGGCTGCCTGGGGTCTGAACCAAGCAGGAACCCTGCAGGGACCAAGCTCAGGCTGGGAGGCAGCTTCAAGAGGACAAGGATGCCAGTCCCAGCCCCCCCACCCCTCCTAGTCAGGGACCCAACCCCAGTCTGAGGCTCCCAGTCAGTCACATCAACAGCTTCCACATCCAGAGATGTCAAAGAACCCCGCGTGCCATTGGTGCCTCCCAGCAAGTTCTGTCCCCATCCCATAGATGAGAAAACTGAAGCTCCAAGAGGCAAAGACCATCACTCAAGGACACACAACTCACCAGTGACTGGCAGGGTTGCCAGACTTAGCAAAGAAAAATGCAGAATGCCTAGTTGAATTTGAATTTCAGATAAGCAATAATACCTTTTTGAGG
Task1_train_26373
A variant was discovered on Chromosome 19, affecting INSR (insulin receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Rabson-Mendenhall syndrome
AGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAAAGAAATGCAAATAGAAACAATGACAACACGTCAGCTCCTCCCTCCCGCAGTAAATTATGAAAGATTTTTCAAATAACACTCAAAGCTGGCCAAGGTGTTCCCTCTCCTCCAAAGCTAGGAGGAGTGGCCGTTGGCACAACATTTCCGGAACACCATTTGTCAATCTGCACCAAGAGCCTCTGACCCAGAAATTGCACTTCTGGAAAGCAAGCCTAAAGAAACAACTGCTAGATAAAGCTTTGACTCTAAAATGTTCATCACTCTCTTTGTGAAAACTAGAAATTATCTTTTTTTTTTTTTTTTTTTGAGAAGGAGTTTCCCTCTGGTTGCCCAGGGTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCGCCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGTTGGTCTCGAACTCCTGACCTCAAGTGGTCCACCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCGGCCTGGAAATCATCTTAATGCCCAATAACAGGAATGGTTAAGGAAACCTTCAGTAGACACGACAGATTCCTGAAGATCACTAGAAGGAACAACCCCCAATAAACTACTCTCGGCGACATGCGTTGTGGAATAAGATGAATGTTTTGCTTTTTTTTCGTTTACAAGTGTCTTTTTCCAAATGTCTATTATAAGCAATATCACTTCTATAATCAGATAAGAACTAAACTATTTTTTTAAAAAAACCGAATCTACAGTTTTCCACTCCTTTTCCTCTCCCAAGCAAGAAGAACATTCACTGACTAGCACAGGCGGTGGCAAACTGCTGCCCTCGAGCAAAATCCGGCCCACGACTTGTTTTTGTAAATAAAGTTTTATTGAAACACAGCCACAGTCATACATTTATGCATGCCTGTGGCTGCTTGTCCAATACAGTGGCAGAATTGAGTCGTTGCATCAGAGACCATATGGCCTGCAAAATCTGAAGTATCTACTATCTGAGTCTTTACAGAAAATGTCTGCCACTCCCTGGGCTAGTGAATGCCACCACCCACTATTCCCCGGCCCCTACCTAATGACCATTTAACATTTTTAAGCCATAAAACATTTTAAGCTTTCTAGAACAAGGCACGAGACACTGCTTAGAACCCTGTATCCCCGGCGTACCTTTCTGGCAGTGACTATGAGTCCAACATCGTTCGACAAACTGCCCGTTGATGACGGTGGCGGGGCAGTTGGTCTTGCCCTTCGCGGTACCCGGACAGATGTCTCCACACTCCTCGTTGTCATCTTTGTTCAACACGATGTAATTATCCTCCACGGAATCCAGGATACGGGACCAGTCGATAGTGGCCAAGTAACAGAGCTCATTGTTCTTCTCGATGCGGACAGAACCCCGGGTGATGTTCATCAGGTTGTAGAGGCCGAGTTCCTTGAGGTGAACCATCTCGAAGATGACCAGCGCGTAGTTAAAGAACAGTCGTGATCCCCGGATGACCGTGAGGTTGGGGAACAGGTCCTTCAGGCTCTCGAGCCCATAGACCCGGAAGAGCAGCAAGTAATCAGTGATCATGATGAGTTTGGGGAAACTGAGGTCTCGGAAATCTTCGGGCCTCGTTTTGAACATCAAGAGTATCTGCAAGTGTCCTTCGATGACAGAGCAATTCTCCAGCTCATGCAACCTAGTGAGGTTGTTCCGGATATCCATGCCGGGACACACTACAAGAGAAAATGAACAGAAAGCAAGACAGGTGAGCAGACGCACGGTGGATGCATCAGAAGGATCAGGGGCAGAGCCGGCTTCATGGACAGGAAACCTGGGCCCTGTGTTTTCATCCCGGGCCCTGTAAACTCTGCAGCCAGCCGGGATGAGTAGCTTTCTCTGTAAAGTACCCATGCCTAAGTAATTACTTTCAAAACGCCAAGAAAATAATTCTTTTGGCAAGCCCTGTTAAAATCCTTAAAATCACCACCTCTGAAATGATGCAGTCGGGACAATGGGATTACAGGGGATTGAGTAACGCGGCAGGTGCAGAAGGAGAAAGGGGAACTGTCTCCAGTGCGTCAACATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAGGTGCCCGCGGTCAGAAATGGGGCAAGGAAAGCTAAATGTATTTGTTTTGTCAATCCTCCCACCTCGCTGGCTGACTTTCCTTCCCGGACTGCTCTCCTGACCTGCAATCAAGACCTAATTACCTTTTACCTGGGTGTGGTGAGGGCTTCCCAGGGAGCCCGATCTCCATTGCCCAAATGCCCTGAGTTCTCATTCTCCTGAAGGCGGTCCCTCCCAGGCCCCAACGCCCACCATGGCTCCCCATCATCCTGCACTTCCCTCAAGATTCTGCCCCTACATCCCCTGCACACCACTAAACAGGCCTGCCCACAACTCTTGCACAACTCCAAGACTCCTATCCTCCTCTGTAACATGGCTTATATGGAAGAAGAAGTGAAACAACTCAGGGCAAGCACTCAAACAGTGCCTGAGACATAGTAAGTGCTGCACTAATGTCAGCTATTTTGTTGTTTGTTGTTGTTGTTCTTCTTGCTGTTGTTTATTCCCCCAAACATATAACAGTCATCTCTAGGCTAGTCTATCTTTTGGCTGGCGAAGTGCTTTGTACCTTAGCTCCCTATTTCTAAATCCAGCCCATCATGCTTCAAGATATCCAGTTCAAATGCTGCCTCCTCCTCCAGGCAGCCGTCCCTGATTTCCTTTCCTTGGCACACCTATTTGCGTGTTTCTCCTCCTTGTGTCCCTTACACCTGAGTTAACGTTTTTCAAAATTGAAGTCTTTAGATGGCTTCTCTCTGCCAACACACCCACACACCCACACACACACACACACACACACCGCCTCCCCAACACACACACCACAGTCCTCAGCACCTAGAATATAAGGCTCAGTATACAACCCCTGCTTATTTTGTTCCAAAACACTAAACCTTCCACCAATATCTTTGAGGAAAACAGATTGTTCTAAAGAAGAATAGTAAATCCTCTAAAAAAAAAAAAAATCCACCCTGAGAATTACCCACAAAAGAAGCACAAATTAGAAAAAACAATAACAACGACAAAACACAGCAAAAGCAAACAAATGGGAAAAAAAAAGTAGCAGTGATCCTGGATCACATTCCATGCAGCAAATGGATTAGGCTAAGTCGAGAAAACACACACACACACACACACACACACACACACACACACACACACACACACTTGCTTGCTAGGAAGTTGGAGGAAAGCCCCAGTACACAACTATGGATTAATCTCCACCCTCCCCTCAACACTGGCTGCCTGGGGTCTGAACCAAGCAGGAACCCTGCAGGGACCAAGCTCAGGCTGGGAGGCAGCTTCAAGAGGACAAGGATGCCAGTCCCAGCCCCCCCACCCCTCCTAGTCAGGGACCCAACCCCAGTCTGAGGCTCCCAGTCAGTCACATCAACAGCTTCCACATCCAGAGATGTCAAAGAACCCCGCGTGCCATTGGTGCCTCCCAGCAAGTTCTGTCCCCATCCCATAGATGAGAAAACTGAAGCTCCAAGAGGCAAAGACCATCACTCAAGGACACACAACTCACCAGTGACTGGCAGGGTTGCCAGACTTAGCAAAGAAAAATGCAGAATGCCTAGTTGAATTTGAATTTCAGATAAGCAATAATACCTTTTTGAGGATAAGTATATCCCATGTAATGTTTGGGACATAACTTAC
AGTGGCACACTGAAATCCAGCTCTGAACTCCATAAACATTTTAAGCTTCTCCAGCAAAACACTTCCCAGAGCATTTAAACCACTGAACAACAAAAACAACAAAATGCAATTGGCAAAGGGTTAGTAGCCTTCACTGATGAAAACCACATACAGATTAATTTTGCAAAAGCTACTGAGGTACTAAAAGACAAATGGGCAAAGGATATGAACAGGAAGAGAAAACTCAAATGATAAATAAACATGTTTTAAAAGGTTCAACCCCGATAGCAATCAAAGAAATGCAAATAGAAACAATGACAACACGTCAGCTCCTCCCTCCCGCAGTAAATTATGAAAGATTTTTCAAATAACACTCAAAGCTGGCCAAGGTGTTCCCTCTCCTCCAAAGCTAGGAGGAGTGGCCGTTGGCACAACATTTCCGGAACACCATTTGTCAATCTGCACCAAGAGCCTCTGACCCAGAAATTGCACTTCTGGAAAGCAAGCCTAAAGAAACAACTGCTAGATAAAGCTTTGACTCTAAAATGTTCATCACTCTCTTTGTGAAAACTAGAAATTATCTTTTTTTTTTTTTTTTTTTGAGAAGGAGTTTCCCTCTGGTTGCCCAGGGTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGTGCACCGCCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGTCAGGTTGGTCTCGAACTCCTGACCTCAAGTGGTCCACCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCCGGCCTGGAAATCATCTTAATGCCCAATAACAGGAATGGTTAAGGAAACCTTCAGTAGACACGACAGATTCCTGAAGATCACTAGAAGGAACAACCCCCAATAAACTACTCTCGGCGACATGCGTTGTGGAATAAGATGAATGTTTTGCTTTTTTTTCGTTTACAAGTGTCTTTTTCCAAATGTCTATTATAAGCAATATCACTTCTATAATCAGATAAGAACTAAACTATTTTTTTAAAAAAACCGAATCTACAGTTTTCCACTCCTTTTCCTCTCCCAAGCAAGAAGAACATTCACTGACTAGCACAGGCGGTGGCAAACTGCTGCCCTCGAGCAAAATCCGGCCCACGACTTGTTTTTGTAAATAAAGTTTTATTGAAACACAGCCACAGTCATACATTTATGCATGCCTGTGGCTGCTTGTCCAATACAGTGGCAGAATTGAGTCGTTGCATCAGAGACCATATGGCCTGCAAAATCTGAAGTATCTACTATCTGAGTCTTTACAGAAAATGTCTGCCACTCCCTGGGCTAGTGAATGCCACCACCCACTATTCCCCGGCCCCTACCTAATGACCATTTAACATTTTTAAGCCATAAAACATTTTAAGCTTTCTAGAACAAGGCACGAGACACTGCTTAGAACCCTGTATCCCCGGCGTACCTTTCTGGCAGTGACTATGAGTCCAACATCGTTCGACAAACTGCCCGTTGATGACGGTGGCGGGGCAGTTGGTCTTGCCCTTCGCGGTACCCGGACAGATGTCTCCACACTCCTCGTTGTCATCTTTGTTCAACACGATGTAATTATCCTCCACGGAATCCAGGATACGGGACCAGTCGATAGTGGCCAAGTAACAGAGCTCATTGTTCTTCTCGATGCGGACAGAACCCCGGGTGATGTTCATCAGGTTGTAGAGGCCGAGTTCCTTGAGGTGAACCATCTCGAAGATGACCAGCGCGTAGTTAAAGAACAGTCGTGATCCCCGGATGACCGTGAGGTTGGGGAACAGGTCCTTCAGGCTCTCGAGCCCATAGACCCGGAAGAGCAGCAAGTAATCAGTGATCATGATGAGTTTGGGGAAACTGAGGTCTCGGAAATCTTCGGGCCTCGTTTTGAACATCAAGAGTATCTGCAAGTGTCCTTCGATGACAGAGCAATTCTCCAGCTCATGCAACCTAGTGAGGTTTTTCCGGATATCCATGCCGGGACACACTACAAGAGAAAATGAACAGAAAGCAAGACAGGTGAGCAGACGCACGGTGGATGCATCAGAAGGATCAGGGGCAGAGCCGGCTTCATGGACAGGAAACCTGGGCCCTGTGTTTTCATCCCGGGCCCTGTAAACTCTGCAGCCAGCCGGGATGAGTAGCTTTCTCTGTAAAGTACCCATGCCTAAGTAATTACTTTCAAAACGCCAAGAAAATAATTCTTTTGGCAAGCCCTGTTAAAATCCTTAAAATCACCACCTCTGAAATGATGCAGTCGGGACAATGGGATTACAGGGGATTGAGTAACGCGGCAGGTGCAGAAGGAGAAAGGGGAACTGTCTCCAGTGCGTCAACATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAGGTGCCCGCGGTCAGAAATGGGGCAAGGAAAGCTAAATGTATTTGTTTTGTCAATCCTCCCACCTCGCTGGCTGACTTTCCTTCCCGGACTGCTCTCCTGACCTGCAATCAAGACCTAATTACCTTTTACCTGGGTGTGGTGAGGGCTTCCCAGGGAGCCCGATCTCCATTGCCCAAATGCCCTGAGTTCTCATTCTCCTGAAGGCGGTCCCTCCCAGGCCCCAACGCCCACCATGGCTCCCCATCATCCTGCACTTCCCTCAAGATTCTGCCCCTACATCCCCTGCACACCACTAAACAGGCCTGCCCACAACTCTTGCACAACTCCAAGACTCCTATCCTCCTCTGTAACATGGCTTATATGGAAGAAGAAGTGAAACAACTCAGGGCAAGCACTCAAACAGTGCCTGAGACATAGTAAGTGCTGCACTAATGTCAGCTATTTTGTTGTTTGTTGTTGTTGTTCTTCTTGCTGTTGTTTATTCCCCCAAACATATAACAGTCATCTCTAGGCTAGTCTATCTTTTGGCTGGCGAAGTGCTTTGTACCTTAGCTCCCTATTTCTAAATCCAGCCCATCATGCTTCAAGATATCCAGTTCAAATGCTGCCTCCTCCTCCAGGCAGCCGTCCCTGATTTCCTTTCCTTGGCACACCTATTTGCGTGTTTCTCCTCCTTGTGTCCCTTACACCTGAGTTAACGTTTTTCAAAATTGAAGTCTTTAGATGGCTTCTCTCTGCCAACACACCCACACACCCACACACACACACACACACACACCGCCTCCCCAACACACACACCACAGTCCTCAGCACCTAGAATATAAGGCTCAGTATACAACCCCTGCTTATTTTGTTCCAAAACACTAAACCTTCCACCAATATCTTTGAGGAAAACAGATTGTTCTAAAGAAGAATAGTAAATCCTCTAAAAAAAAAAAAAATCCACCCTGAGAATTACCCACAAAAGAAGCACAAATTAGAAAAAACAATAACAACGACAAAACACAGCAAAAGCAAACAAATGGGAAAAAAAAAGTAGCAGTGATCCTGGATCACATTCCATGCAGCAAATGGATTAGGCTAAGTCGAGAAAACACACACACACACACACACACACACACACACACACACACACACACACACTTGCTTGCTAGGAAGTTGGAGGAAAGCCCCAGTACACAACTATGGATTAATCTCCACCCTCCCCTCAACACTGGCTGCCTGGGGTCTGAACCAAGCAGGAACCCTGCAGGGACCAAGCTCAGGCTGGGAGGCAGCTTCAAGAGGACAAGGATGCCAGTCCCAGCCCCCCCACCCCTCCTAGTCAGGGACCCAACCCCAGTCTGAGGCTCCCAGTCAGTCACATCAACAGCTTCCACATCCAGAGATGTCAAAGAACCCCGCGTGCCATTGGTGCCTCCCAGCAAGTTCTGTCCCCATCCCATAGATGAGAAAACTGAAGCTCCAAGAGGCAAAGACCATCACTCAAGGACACACAACTCACCAGTGACTGGCAGGGTTGCCAGACTTAGCAAAGAAAAATGCAGAATGCCTAGTTGAATTTGAATTTCAGATAAGCAATAATACCTTTTTGAGGATAAGTATATCCCATGTAATGTTTGGGACATAACTTAC
Task1_train_26374
Given this context: Chromosome 19, gene PNPLA6 (patatin like domain 6, lysophospholipase) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; not specified
CCACGATTAGCAGAGGGGCTATCTGGATTCTCCACTTATAATGAGGGCTACTTCAGGGACCTCTGTGGCTGTCAGAGGGGCTGTCTCAAGGTTCTCTGAGACTGGGAGGAAGGTCTATCTCAGGAATGTTTATGTAGAACAGAGAGACTGTATCTGCGGTCTTCTCATATATTGGAAGCTATGTCAAAGGCATACTCACGTTAAGGGGACTATCTCAGGAATCTACTCTGTGACTACTGGAAGGACCGTTTCAGGACCCCCATGATAAACACAGGTACCATTTCTGGGCCTACCCTTATCTTGGAAGCTATGTCAGGGGTCTGCCTTCCTAAAGGGTTCAGCTCAGGGGCCTATGCCTAGTGGAGGGGCCATCTCAGAGAACTTTAGGTCTGGGGTCATAGGGTTTTTCCATAAAGGGCCAGATAGTAAATGTTTCAGGCTTTGCTGGCCACATATGGTCCCCATTGCAACTCTTCAACTCTGCTGCATGGGAGCAGCCATAATGATATGCAAATACATGAATGTGGCTTTGTACCAATAAAACTTTATTTACCAAAATAAATGTGGCCAGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGGGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCACCCACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATCGCTTTAGCCTGGGAGGTGGAGGTTGCAGTGGGCCGAGATTTCGCCACTGCACTCCAGCCTGGGTAAAAGAGCGAGACTCCTGAGGCAGGGCACAGTGGCTCACACCTTTAATCCCAGCCTTTGGGAGGCCGAGTCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGCCCAACATGGAGAAACCCCATCTCTACTAAAAATGCAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGAAACAAGAGCAAAACTTCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGTGGCCAGCCTGATTTGGCCAGCGGGCCAGAGTTTGCTGTACATGAGCCCTGGGGAAAGGGGTATGCGGGGGTCTTAGGTTTGCCTGAGCCTTCTCCGTGCCCCCCTCACCCCCGGCACCCCTCCCCTCCCACCAGGATCCTGCGCATCCAGAAAGAGACGCCCACGCTGCAGCGGAAGGAGCCCCCGCCCGCAGTGCTAGAAGCTGACCTGACCGAGGGCGACCTGGCTAACTCCCATCTGCCCTCTGAAGTGCTTTATATGCTCAAGAACGTCCGGTCAGTGTTGGGGTGCAGGTGGGGGTGGAGGGCTGCAGACGTGGGGCCGCCCTGACCTCCAGCCTCTGTCGCCCACCGCCTGTCCAACAGGGTGCTGGGCCACTTCGAGAAGCCACTCTTCCTGGAGCTCTGCCGCCACATGGTCTTCCAGCGGCTGGGCCAGGGTGACTACGTCTTCCGGCCGGGCCAGCCAGATGCCAGCATCTACGTGGTGCAGGACGGGCTGCTGGAGCTCTGTCTGCCAGGGCCTGTGAGTGGGCCTCCCCAGGGGCTGCTGCAGGAGGATGGGTGGTGGGGATGGGCAGCAGGCATTGGTCTGTAGAGCTGGTGGTCTTTGGAGATGCGTCATCGGGAGTCAGGGGAACGGGTGACCGAGGACATTTGGGGTAGTCTGCGTAGTTGCTCAGTAGTTACAAGTATTGAACGATGGGAGATGCCTGCTCGTTGGAAGGGTTGGTGGGTTCCCCTGAGAAGGGATGAGAAGTGTCAGTGATCATTGGGATGGATGAGGGGGCGACATGCCAGTCACCAGGGCGAGGCCACTGAGGGTCCACGGTCTCCTGTGTCTCAGGACGGGAAGGAGTGTGTGGTGAAGGAAGTGGTTCCTGGGGACAGCGTCAACAGCCTTCTCAGCATCCTGGATGTCATCACCGTGAGTGACCAGTTTCTGAGGCAGGGGGGCTGGGGTGCAAGGTCCCACCCAAGGGACTAGGTTGAAGGAAATCACAGGGTCCCCAATCTCTGGTTCATCCGTTATGCTGCCGATGGCCCCTCACGGGACTGGCGCCAGGAAGGATTAGGGGAGTAGCGAGGGGGACTCGCAGCCTCTGCCCTTGTCTCTCTTCACGCCCTCCCCTCCCCCAGGGTCACCAGCATCCCCAGCGGACCGTGTCTGCCCGGGCGGCCCGGGACTCCACGGTGCTGCGCCTGCCGGTGGAAGCATTCTCCGCGGTCTTCACCAAGTACCCGGAGAGCTTGGTGCGGGTCGTGCAGGTCAGTGGGCCTTCGCCTCCTGTCACCCCCTGAGGGACCCCACCCTGGCCCCCACCCATTCCAGGCTCCAAGGGACCGAGGCCCAGCAGCCAGCAGGCGCTGGAGCTGTGGTTATCGGCCTGGAGCAGCCAGATGTCTGCAGCCGCGGACTCCTCCCTTAGCTGCCTCGCCCCATTTCCCCAGACTGTGGGTCTCTCCCTGGTTCCCGCCCGACCCCTTATGCTGCGAACTAGCCCGGCCCACCATCTGGCCCTGCCCCTTACCCCGCCCCATCTTATGGCCACGCCCCTCGAGCCCTGCAGATCATCATGGTGCGGCTGCAGCGAGTCACCTTCCTGGCACTGCACAACTACCTGGGTCTGACCAATGAGCTCTTCAGCCACGTGAGTGGGTGGCGGGGAGCGAGCACAGGGGGGATGGGGGCGAGGTCTCCCTCCCAGGACAGGCCACAAGCTGTTCTCTGCCCCCAGGAGATCCAGCCCCTGCGTCTGTTCCCCAGCCCCGGCCTCCCAACTCGCACCAGCCCTGTGCGGGGCTCCAAGAGAATGGTCAGCACCTCAGCTACAGACGAGCCCAGGGAGACCCCAGGGCGGCCACCCGATCCCACCGGGGCCCCGCTGCCTGGACCTACAGGTACCCAGGGACCCGAGGCCAGCCGAGCCCAATCTCCCAGGAAGCCCCGTCTCAGCCGCCAGCCCCTTTTTCAGTTCTGCATAGAGTCAACCTGACCTTGTCCAGCCCCACAGGGACTCCATAGCGGGGTACCCAGGTCTGACTCCTATCTGGTACCGAGGAAGCTGTGGCCTCGTCCCCAAGGGCCCATTGGAATTGCTTTAACTAGTTAATCAGTCGCCAGCATCTCCTTATCTCCCAACCTGCTAATCCTCCTAGTGGCTCTGAGGGGCAGGAGCCTGAACATGTGTCTCCCCCAGGGGACCCTGTGAAGCCCACATCCCTGGAAACCCCCTCGGCCCCTCTGCTGAGCCGCTGCGTCTCCATGCCAGGGGACATCTCAGGTTTGGAGCACTGGGTCTGCGGGGAGGGCCATGGAGCTTCCAGGTTTGAATCCAGGTCCACCGCCTGCCTGTCTTGATTGTTTTAATCTGCGAAATGGGAACACTGCCAGTACTTCCCCAGGCACTGTTTTGTAGATATTCATTGAGATAGTGCTTCTCCCACCTGTTAAGAGGGATTCAGAGGGAGAGTGCAGGCGTTGATTAGTCATGTCTGCTACAGCAGTGGCCCATGGCACATTGGTATCCATTGGTCTCAGACTGCAACTGTGGTTACTCTCATCTTTTTCTTTTCTTTTGAGACCTGTCTCCCAGGCTAGAGTGCAGTGGTGCTGTCATAGCTCACTGCAGCCTCGAACTCCTATGCTCAAGTGATCCTCCAGCCCCAGCCTCCCAAATAGCTGGAACTACAGGCCTGCACCACTACACCTGGCTCATTTTTTAAAAATCTTACTCTCATCTTTATGGTTTTTGTTGCCCCCCTGCCTGCCTGCAGGCTTGCAGGGTGGCCCCCGCTCCGACTTCGACATGGCCTATGAGCGTGGCCGGATCTCCGTGTCCCTGCAGGAAGAGGCCTCCGGGGGGTCCCTGGCAGCCCCCGCTCGGGTAAGGCTTGGGACCCTGCCCGGTGGTGGAGCCCGCAGGGGAAGGTGGCTGG
CCACGATTAGCAGAGGGGCTATCTGGATTCTCCACTTATAATGAGGGCTACTTCAGGGACCTCTGTGGCTGTCAGAGGGGCTGTCTCAAGGTTCTCTGAGACTGGGAGGAAGGTCTATCTCAGGAATGTTTATGTAGAACAGAGAGACTGTATCTGCGGTCTTCTCATATATTGGAAGCTATGTCAAAGGCATACTCACGTTAAGGGGACTATCTCAGGAATCTACTCTGTGACTACTGGAAGGACCGTTTCAGGACCCCCATGATAAACACAGGTACCATTTCTGGGCCTACCCTTATCTTGGAAGCTATGTCAGGGGTCTGCCTTCCTAAAGGGTTCAGCTCAGGGGCCTATGCCTAGTGGAGGGGCCATCTCAGAGAACTTTAGGTCTGGGGTCATAGGGTTTTTCCATAAAGGGCCAGATAGTAAATGTTTCAGGCTTTGCTGGCCACATATGGTCCCCATTGCAACTCTTCAACTCTGCTGCATGGGAGCAGCCATAATGATATGCAAATACATGAATGTGGCTTTGTACCAATAAAACTTTATTTACCAAAATAAATGTGGCCAGCCGGGTGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGGGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCACCCACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATCGCTTTAGCCTGGGAGGTGGAGGTTGCAGTGGGCCGAGATTTCGCCACTGCACTCCAGCCTGGGTAAAAGAGCGAGACTCCTGAGGCAGGGCACAGTGGCTCACACCTTTAATCCCAGCCTTTGGGAGGCCGAGTCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGCCCAACATGGAGAAACCCCATCTCTACTAAAAATGCAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGAAACAAGAGCAAAACTTCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGTGGCCAGCCTGATTTGGCCAGCGGGCCAGAGTTTGCTGTACATGAGCCCTGGGGAAAGGGGTATGCGGGGGTCTTAGGTTTGCCTGAGCCTTCTCCGTGCCCCCCTCACCCCCGGCACCCCTCCCCTCCCACCAGGATCCTGCGCATCCAGAAAGAGACGCCCACGCTGCAGCGGAAGGAGCCCCCGCCCGCAGTGCTAGAAGCTGACCTGACCGAGGGCGACCTGGCTAACTCCCATCTGCCCTCTGAAGTGCTTTATATGCTCAAGAACGTCCGGTCAGTGTTGGGGTGCAGGTGGGGGTGGAGGGCTGCAGACGTGGGGCCGCCCTGACCTCCAGCCTCTGTCGCCCACCGCCTGTCCAACAGGGTGCTGGGCCACTTCGAGAAGCCACTCTTCCTGGAGCTCTGCCGCCACATGGTCTTCCAGCGGCTGGGCCAGGGTGACTACGTCTTCCGGCCGGGCCAGCCAGATGCCAGCATCTACGTGGTGCAGGACGGGCTGCTGGAGCTCTGTCTGCCAGGGCCTGTGAGTGGGCCTCCCCAGGGGCTGCTGCAGGAGGATGGGTGGTGGGGATGGGCAGCAGGCATTGGTCTGTAGAGCTGGTGGTCTTTGGAGATGCGTCATCGGGAGTCAGGGGAACGGGTGACCGAGGACATTTGGGGTAGTCTGCGTAGTTGCTCAGTAGTTACAAGTATTGAACGATGGGAGATGCCTGCTCGTTGGAAGGGTTGGTGGGTTCCCCTGAGAAGGGATGAGAAGTGTCAGTGATCATTGGGATGGATGAGGGGGCGACATGCCAGTCACCAGGGCGAGGCCACTGAGGGTCCACGGTCTCCTGTGTCTCAGGACGGGAAGGAGTGTGTGGTGAAGGAAGTGGTTCCTGGGGACAGCATCAACAGCCTTCTCAGCATCCTGGATGTCATCACCGTGAGTGACCAGTTTCTGAGGCAGGGGGGCTGGGGTGCAAGGTCCCACCCAAGGGACTAGGTTGAAGGAAATCACAGGGTCCCCAATCTCTGGTTCATCCGTTATGCTGCCGATGGCCCCTCACGGGACTGGCGCCAGGAAGGATTAGGGGAGTAGCGAGGGGGACTCGCAGCCTCTGCCCTTGTCTCTCTTCACGCCCTCCCCTCCCCCAGGGTCACCAGCATCCCCAGCGGACCGTGTCTGCCCGGGCGGCCCGGGACTCCACGGTGCTGCGCCTGCCGGTGGAAGCATTCTCCGCGGTCTTCACCAAGTACCCGGAGAGCTTGGTGCGGGTCGTGCAGGTCAGTGGGCCTTCGCCTCCTGTCACCCCCTGAGGGACCCCACCCTGGCCCCCACCCATTCCAGGCTCCAAGGGACCGAGGCCCAGCAGCCAGCAGGCGCTGGAGCTGTGGTTATCGGCCTGGAGCAGCCAGATGTCTGCAGCCGCGGACTCCTCCCTTAGCTGCCTCGCCCCATTTCCCCAGACTGTGGGTCTCTCCCTGGTTCCCGCCCGACCCCTTATGCTGCGAACTAGCCCGGCCCACCATCTGGCCCTGCCCCTTACCCCGCCCCATCTTATGGCCACGCCCCTCGAGCCCTGCAGATCATCATGGTGCGGCTGCAGCGAGTCACCTTCCTGGCACTGCACAACTACCTGGGTCTGACCAATGAGCTCTTCAGCCACGTGAGTGGGTGGCGGGGAGCGAGCACAGGGGGGATGGGGGCGAGGTCTCCCTCCCAGGACAGGCCACAAGCTGTTCTCTGCCCCCAGGAGATCCAGCCCCTGCGTCTGTTCCCCAGCCCCGGCCTCCCAACTCGCACCAGCCCTGTGCGGGGCTCCAAGAGAATGGTCAGCACCTCAGCTACAGACGAGCCCAGGGAGACCCCAGGGCGGCCACCCGATCCCACCGGGGCCCCGCTGCCTGGACCTACAGGTACCCAGGGACCCGAGGCCAGCCGAGCCCAATCTCCCAGGAAGCCCCGTCTCAGCCGCCAGCCCCTTTTTCAGTTCTGCATAGAGTCAACCTGACCTTGTCCAGCCCCACAGGGACTCCATAGCGGGGTACCCAGGTCTGACTCCTATCTGGTACCGAGGAAGCTGTGGCCTCGTCCCCAAGGGCCCATTGGAATTGCTTTAACTAGTTAATCAGTCGCCAGCATCTCCTTATCTCCCAACCTGCTAATCCTCCTAGTGGCTCTGAGGGGCAGGAGCCTGAACATGTGTCTCCCCCAGGGGACCCTGTGAAGCCCACATCCCTGGAAACCCCCTCGGCCCCTCTGCTGAGCCGCTGCGTCTCCATGCCAGGGGACATCTCAGGTTTGGAGCACTGGGTCTGCGGGGAGGGCCATGGAGCTTCCAGGTTTGAATCCAGGTCCACCGCCTGCCTGTCTTGATTGTTTTAATCTGCGAAATGGGAACACTGCCAGTACTTCCCCAGGCACTGTTTTGTAGATATTCATTGAGATAGTGCTTCTCCCACCTGTTAAGAGGGATTCAGAGGGAGAGTGCAGGCGTTGATTAGTCATGTCTGCTACAGCAGTGGCCCATGGCACATTGGTATCCATTGGTCTCAGACTGCAACTGTGGTTACTCTCATCTTTTTCTTTTCTTTTGAGACCTGTCTCCCAGGCTAGAGTGCAGTGGTGCTGTCATAGCTCACTGCAGCCTCGAACTCCTATGCTCAAGTGATCCTCCAGCCCCAGCCTCCCAAATAGCTGGAACTACAGGCCTGCACCACTACACCTGGCTCATTTTTTAAAAATCTTACTCTCATCTTTATGGTTTTTGTTGCCCCCCTGCCTGCCTGCAGGCTTGCAGGGTGGCCCCCGCTCCGACTTCGACATGGCCTATGAGCGTGGCCGGATCTCCGTGTCCCTGCAGGAAGAGGCCTCCGGGGGGTCCCTGGCAGCCCCCGCTCGGGTAAGGCTTGGGACCCTGCCCGGTGGTGGAGCCCGCAGGGGAAGGTGGCTGG
Task1_train_26375
A variant was discovered in gene PNPLA6 (patatin like domain 6, lysophospholipase), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Hereditary spastic paraplegia 39
CATCCGTTATGCTGCCGATGGCCCCTCACGGGACTGGCGCCAGGAAGGATTAGGGGAGTAGCGAGGGGGACTCGCAGCCTCTGCCCTTGTCTCTCTTCACGCCCTCCCCTCCCCCAGGGTCACCAGCATCCCCAGCGGACCGTGTCTGCCCGGGCGGCCCGGGACTCCACGGTGCTGCGCCTGCCGGTGGAAGCATTCTCCGCGGTCTTCACCAAGTACCCGGAGAGCTTGGTGCGGGTCGTGCAGGTCAGTGGGCCTTCGCCTCCTGTCACCCCCTGAGGGACCCCACCCTGGCCCCCACCCATTCCAGGCTCCAAGGGACCGAGGCCCAGCAGCCAGCAGGCGCTGGAGCTGTGGTTATCGGCCTGGAGCAGCCAGATGTCTGCAGCCGCGGACTCCTCCCTTAGCTGCCTCGCCCCATTTCCCCAGACTGTGGGTCTCTCCCTGGTTCCCGCCCGACCCCTTATGCTGCGAACTAGCCCGGCCCACCATCTGGCCCTGCCCCTTACCCCGCCCCATCTTATGGCCACGCCCCTCGAGCCCTGCAGATCATCATGGTGCGGCTGCAGCGAGTCACCTTCCTGGCACTGCACAACTACCTGGGTCTGACCAATGAGCTCTTCAGCCACGTGAGTGGGTGGCGGGGAGCGAGCACAGGGGGGATGGGGGCGAGGTCTCCCTCCCAGGACAGGCCACAAGCTGTTCTCTGCCCCCAGGAGATCCAGCCCCTGCGTCTGTTCCCCAGCCCCGGCCTCCCAACTCGCACCAGCCCTGTGCGGGGCTCCAAGAGAATGGTCAGCACCTCAGCTACAGACGAGCCCAGGGAGACCCCAGGGCGGCCACCCGATCCCACCGGGGCCCCGCTGCCTGGACCTACAGGTACCCAGGGACCCGAGGCCAGCCGAGCCCAATCTCCCAGGAAGCCCCGTCTCAGCCGCCAGCCCCTTTTTCAGTTCTGCATAGAGTCAACCTGACCTTGTCCAGCCCCACAGGGACTCCATAGCGGGGTACCCAGGTCTGACTCCTATCTGGTACCGAGGAAGCTGTGGCCTCGTCCCCAAGGGCCCATTGGAATTGCTTTAACTAGTTAATCAGTCGCCAGCATCTCCTTATCTCCCAACCTGCTAATCCTCCTAGTGGCTCTGAGGGGCAGGAGCCTGAACATGTGTCTCCCCCAGGGGACCCTGTGAAGCCCACATCCCTGGAAACCCCCTCGGCCCCTCTGCTGAGCCGCTGCGTCTCCATGCCAGGGGACATCTCAGGTTTGGAGCACTGGGTCTGCGGGGAGGGCCATGGAGCTTCCAGGTTTGAATCCAGGTCCACCGCCTGCCTGTCTTGATTGTTTTAATCTGCGAAATGGGAACACTGCCAGTACTTCCCCAGGCACTGTTTTGTAGATATTCATTGAGATAGTGCTTCTCCCACCTGTTAAGAGGGATTCAGAGGGAGAGTGCAGGCGTTGATTAGTCATGTCTGCTACAGCAGTGGCCCATGGCACATTGGTATCCATTGGTCTCAGACTGCAACTGTGGTTACTCTCATCTTTTTCTTTTCTTTTGAGACCTGTCTCCCAGGCTAGAGTGCAGTGGTGCTGTCATAGCTCACTGCAGCCTCGAACTCCTATGCTCAAGTGATCCTCCAGCCCCAGCCTCCCAAATAGCTGGAACTACAGGCCTGCACCACTACACCTGGCTCATTTTTTAAAAATCTTACTCTCATCTTTATGGTTTTTGTTGCCCCCCTGCCTGCCTGCAGGCTTGCAGGGTGGCCCCCGCTCCGACTTCGACATGGCCTATGAGCGTGGCCGGATCTCCGTGTCCCTGCAGGAAGAGGCCTCCGGGGGGTCCCTGGCAGCCCCCGCTCGGGTAAGGCTTGGGACCCTGCCCGGTGGTGGAGCCCGCAGGGGAAGGTGGCTGGGAGGGAGCATCAGGAGGTCACAAGCCTGCCCCACTCAGACCCCCACTCAGGAGCCTCGTGAGCAGCCGGCAGGCGCCTGTGAATACAGCTACTGTGAGGATGAGTCGGCCACTGGTGGCTGCCCTTTCGGGCCCTACCAGGGCCGCCAGACCAGCAGCATCTTCGAGGCAGCAAAGCAGGAGCTGGCCAAGCTGATGCGGATTGAGGTGGGCAGCCGAGGGGAGCTGGGCACAGGGCGCAAGGGAGGCCTGGCTGCGCCCATCTCAACCCCCCTACCTCCCCAGGACCCCTCCCTCCTGAACAGCAGAGTCTTGCTGCACCACGCCAAAGCTGGCACCATCATTGCCCGCCAGGGAGACCAGGTGAGGCTGACCCCTGACCTGTAACCATGCCACCTGAGATCATTCCCTATGACTTCTGTGACCTCTGATCCCTGCCCTTTGACTGTAAGACCAGCACCTTCTCCCATAGAAGCAGACCTCTCTCATCCTATCATTTCCAACCTCTAACCCTTGGGTCCTGTGACCCCCACCCCCTAACCCCACCCTATGTCCTCTGGACCTGTCAACCCTTCACCTGTGACCCCTGAACCTTTTGCCCTAGGACTCCAACTCCTAGATCTCTCCTGCCTGCCCTGGCTCTTCCTGTAATTCTGTTTTCTGAACTTCTGATCCTGCAGTATTCACTAACATGTCTGCTTCTCATGCTGACCGCTGCCAGGATAGGGGCTCAATAAATGGCTACAAATCGCCATCTGGCCTCGGAAGGCCATGAACCAGCCCTGGGTCGGGGTTTCAGGGCCTTGTGGCGGCACCCAGGATGTGTAGGAAAATGTATCCTACCATTCTGTCCACTGTCCATATGGGGAAACTGAGGCCCATCAAGGGTTAGTGACCCGACTACCAGCTGAAAGTCAGGAAGCCTCAGGGTAGGAGGAGGAGGAGGAAGAAGAAGAGGAAAGTTGAAACCCACACTCTGTCCCCAGAGTGTGGCAGATGATCTAGAAAGTTCTCTGCTTCCTCATCAGTGGAATGAGGTAATAAAGAAGAGATGCCTAGTTCGCAGAACCCCAGTAAGACTTCTTTTTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGCAGTGGCGTGACGGTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTACTAGAGAGGGGGTTTCACTGTGTTAGCCAGGGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTAGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTTTTTTTTTTTGTTTTGAGACAGAGTCTTGCTGTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGGTTGTGCCACCACGCCTGGCTACTTTTTATATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGCCTTGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGAGCTGGGATTACAGGCATGAACCACTGTGCCCAGCCTACTGAGACATTTTTGATTGTTAGGATTTCACAGGGTGCTGTTCCTGACACCTGATGGGTAGAGATCAGGGATGCTCAAATGTACAGAGCAGCAGGCCGGAACCATACAGTCCATTATCCACAGTGTGGGGTTTGCAAGAGTGACAAGTGGTCAGGGAGGGTGTTTAGCAGCAGCTTATAGGGAGCGGGGGCTTGAGGTGACAGTGAGCTGTCATAGGCACTGGGACCCCAGCTCTGCCCCAGGCTTGGGGGAGAGAAGCCTGGGGCAGGGTTGGGGTGGGGTGGGAGCTGTGGTCCCACTGTTAGCCGGCTGGAGTGTTGCTGTGTCACTTGACCCAGTGACTCTGCTGTCCCCTTGAACCACCCATGGCAGGGATGGGCTCTTTTCTGGAGAGGAAGTCAAGGCTTTTGCCAGCTGTTCTTAGAATAGCTGAGGAAGTAAGGTTACCCTGTGGCTTCTTTGGGGGCCCCTGGGCCCTGCTTATCTGGG
CATCCGTTATGCTGCCGATGGCCCCTCACGGGACTGGCGCCAGGAAGGATTAGGGGAGTAGCGAGGGGGACTCGCAGCCTCTGCCCTTGTCTCTCTTCACGCCCTCCCCTCCCCCAGGGTCACCAGCATCCCCAGCGGACCGTGTCTGCCCGGGCGGCCCGGGACTCCACGGTGCTGCGCCTGCCGGTGGAAGCATTCTCCGCGGTCTTCACCAAGTACCCGGAGAGCTTGGTGCGGGTCGTGCAGGTCAGTGGGCCTTCGCCTCCTGTCACCCCCTGAGGGACCCCACCCTGGCCCCCACCCATTCCAGGCTCCAAGGGACCGAGGCCCAGCAGCCAGCAGGCGCTGGAGCTGTGGTTATCGGCCTGGAGCAGCCAGATGTCTGCAGCCGCGGACTCCTCCCTTAGCTGCCTCGCCCCATTTCCCCAGACTGTGGGTCTCTCCCTGGTTCCCGCCCGACCCCTTATGCTGCGAACTAGCCCGGCCCACCATCTGGCCCTGCCCCTTACCCCGCCCCATCTTATGGCCACGCCCCTCGAGCCCTGCAGATCATCATGGTGCGGCTGCAGCGAGTCACCTTCCTGGCACTGCACAACTACCTGGGTCTGACCAATGAGCTCTTCAGCCACGTGAGTGGGTGGCGGGGAGCGAGCACAGGGGGGATGGGGGCGAGGTCTCCCTCCCAGGACAGGCCACAAGCTGTTCTCTGCCCCCAGGAGATCCAGCCCCTGCGTCTGTTCCCCAGCCCCGGCCTCCCAACTCGCACCAGCCCTGTGCGGGGCTCCAAGAGAATGGTCAGCACCTCAGCTACAGACGAGCCCAGGGAGACCCCAGGGCGGCCACCCGATCCCACCGGGGCCCCGCTGCCTGGACCTACAGGTACCCAGGGACCCGAGGCCAGCCGAGCCCAATCTCCCAGGAAGCCCCGTCTCAGCCGCCAGCCCCTTTTTCAGTTCTGCATAGAGTCAACCTGACCTTGTCCAGCCCCACAGGGACTCCATAGCGGGGTACCCAGGTCTGACTCCTATCTGGTACCGAGGAAGCTGTGGCCTCGTCCCCAAGGGCCCATTGGAATTGCTTTAACTAGTTAATCAGTCGCCAGCATCTCCTTATCTCCCAACCTGCTAATCCTCCTAGTGGCTCTGAGGGGCAGGAGCCTGAACATGTGTCTCCCCCAGGGGACCCTGTGAAGCCCACATCCCTGGAAACCCCCTCGGCCCCTCTGCTGAGCCGCTGCGTCTCCATGCCAGGGGACATCTCAGGTTTGGAGCACTGGGTCTGCGGGGAGGGCCATGGAGCTTCCAGGTTTGAATCCAGGTCCACCGCCTGCCTGTCTTGATTGTTTTAATCTGCGAAATGGGAACACTGCCAGTACTTCCCCAGGCACTGTTTTGTAGATATTCATTGAGATAGTGCTTCTCCCACCTGTTAAGAGGGATTCAGAGGGAGAGTGCAGGCGTTGATTAGTCATGTCTGCTACAGCAGTGGCCCATGGCACATTGGTATCCATTGGTCTCAGACTGCAACTGTGGTTACTCTCATCTTTTTCTTTTCTTTTGAGACCTGTCTCCCAGGCTAGAGTGCAGTGGTGCTGTCATAGCTCACTGCAGCCTCGAACTCCTATGCTCAAGTGATCCTCCAGCCCCAGCCTCCCAAATAGCTGGAACTACAGGCCTGCACCACTACACCTGGCTCATTTTTTAAAAATCTTACTCTCATCTTTATGGTTTTTGTTGCCCCCCTGCCTGCCTGCAGGCTTGCAGGGTGGCCCCCGCTCCGACTTCGACATGGCCTATGAGCGTGGCCGGATCTCCGTGTCCCTGCAGGAAGAGGCCTCCGGGGGGTCCCTGGCAGCCCCCGCTCGGGTAAGGCTTGGGACCCTGCCCGGTGGTGGAGCCCGCAGGGGAAGGTGGCTGGGAGGGAGCATCAGGAGGTCACAAGCCTGCCCCACTCAGACCCCCACTCAGGAGCCTCGTGAGCAGCCGGCAGGCGCCTGTGAATACAGCTACTGTGAGGATGAGTCGGCCACTGGTGGCTGCCCTTTCGGGACCTACCAGGGCCGCCAGACCAGCAGCATCTTCGAGGCAGCAAAGCAGGAGCTGGCCAAGCTGATGCGGATTGAGGTGGGCAGCCGAGGGGAGCTGGGCACAGGGCGCAAGGGAGGCCTGGCTGCGCCCATCTCAACCCCCCTACCTCCCCAGGACCCCTCCCTCCTGAACAGCAGAGTCTTGCTGCACCACGCCAAAGCTGGCACCATCATTGCCCGCCAGGGAGACCAGGTGAGGCTGACCCCTGACCTGTAACCATGCCACCTGAGATCATTCCCTATGACTTCTGTGACCTCTGATCCCTGCCCTTTGACTGTAAGACCAGCACCTTCTCCCATAGAAGCAGACCTCTCTCATCCTATCATTTCCAACCTCTAACCCTTGGGTCCTGTGACCCCCACCCCCTAACCCCACCCTATGTCCTCTGGACCTGTCAACCCTTCACCTGTGACCCCTGAACCTTTTGCCCTAGGACTCCAACTCCTAGATCTCTCCTGCCTGCCCTGGCTCTTCCTGTAATTCTGTTTTCTGAACTTCTGATCCTGCAGTATTCACTAACATGTCTGCTTCTCATGCTGACCGCTGCCAGGATAGGGGCTCAATAAATGGCTACAAATCGCCATCTGGCCTCGGAAGGCCATGAACCAGCCCTGGGTCGGGGTTTCAGGGCCTTGTGGCGGCACCCAGGATGTGTAGGAAAATGTATCCTACCATTCTGTCCACTGTCCATATGGGGAAACTGAGGCCCATCAAGGGTTAGTGACCCGACTACCAGCTGAAAGTCAGGAAGCCTCAGGGTAGGAGGAGGAGGAGGAAGAAGAAGAGGAAAGTTGAAACCCACACTCTGTCCCCAGAGTGTGGCAGATGATCTAGAAAGTTCTCTGCTTCCTCATCAGTGGAATGAGGTAATAAAGAAGAGATGCCTAGTTCGCAGAACCCCAGTAAGACTTCTTTTTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGCAGTGGCGTGACGGTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTGTATTTTTACTAGAGAGGGGGTTTCACTGTGTTAGCCAGGGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTAGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTTTTTTTTTTTGTTTTGAGACAGAGTCTTGCTGTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGGTTGTGCCACCACGCCTGGCTACTTTTTATATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGCCTTGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGAGCTGGGATTACAGGCATGAACCACTGTGCCCAGCCTACTGAGACATTTTTGATTGTTAGGATTTCACAGGGTGCTGTTCCTGACACCTGATGGGTAGAGATCAGGGATGCTCAAATGTACAGAGCAGCAGGCCGGAACCATACAGTCCATTATCCACAGTGTGGGGTTTGCAAGAGTGACAAGTGGTCAGGGAGGGTGTTTAGCAGCAGCTTATAGGGAGCGGGGGCTTGAGGTGACAGTGAGCTGTCATAGGCACTGGGACCCCAGCTCTGCCCCAGGCTTGGGGGAGAGAAGCCTGGGGCAGGGTTGGGGTGGGGTGGGAGCTGTGGTCCCACTGTTAGCCGGCTGGAGTGTTGCTGTGTCACTTGACCCAGTGACTCTGCTGTCCCCTTGAACCACCCATGGCAGGGATGGGCTCTTTTCTGGAGAGGAAGTCAAGGCTTTTGCCAGCTGTTCTTAGAATAGCTGAGGAAGTAAGGTTACCCTGTGGCTTCTTTGGGGGCCCCTGGGCCCTGCTTATCTGGG
Task1_train_26376
The gene PNPLA6 (patatin like domain 6, lysophospholipase) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Ataxia-hypogonadism-choroidal dystrophy syndrome
ACCCAGCCCCTTCAGTATACTTTAAATCAGGGGTGTCCAATCTTTTGGCTTCCCTGGGCCACATTGGAAGAATTGTCTTGGACCACACATAAAATACACTAACAGTTATAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCGGTTGGATCACTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGTGGCAGGCACCTTTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTCTGGAGGCAGAGGTTGCAGTGAGCCGAGTTTGTATCACTGCACTCCAGCCTGGGCAACAGAGCAAGACACCGTCTCAAAACCAACAAACCAAAAAACCCCACTAAAGATAGCTGATGAGCTAAAAGAAAAAAAATCGCAAAAAAAAAAAAAAAATCTCATAATGTTTTAACAAAGTTTATGAATTTGTGTTGGGCCAAATTCGAAGCCATCCTGGGCCACGTGCAGCCCGTGGGCAGCAGGGTGGACAAGCTTGCTTTAAATCATCTCGAGATTACTTATAATACCTAATACAATGTAAATGCTATGTAAATAGTCATTATACTGTATTATTTAGGGAAAAACGGGGAAAATAGTCTGTAAATGGTCTGCGCAGGTGCAATTTTTTTTTCCTGAATATTTTAGATCCAAGGTTGGTTGAATCCTGGGTATATGGAACATATATATATATATACACACACATATATATACACACATATATATATAGAGAGAGAGATGCTGCTCATCTATATATAATCTATGTAAAAAAATTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCTCCTCCCGGGTTCACGCCATTTTCCTGCCTCAGACTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGAGACGTGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCAGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCATCGCGCCCGGCTAAAAAATATTTTTATATTTATTTATATTTATATATAGATGGTGCTTATATCCAAAGTCTTTATTCTCTCCTTCATGTTTCTTTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCACGCTGGAGTGCAGTGGCGCGATCTTGGCTCATTGCAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCTTGATCCGCCTGCCTCGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTTCTTCTTCTTTTTTTTTTTAAAGACAGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCAGCCTTCCAGGTTCAGGCAATTCTCTTGCCTCAGCTTCCTGAGTAGCTGGAATTACAGACATGTGCCACGACGCCCAGCTAATTTTTTTATTTTAGTAGAGACAGGTTTCGCCACGTTGGCCAGGCTGGTGCCGAACTCCTGGCCTCAAGTGATCCCCCCTGCCTGGCCTCCCAAAGCGCTGGGATTACAGCCGTGAGCCACCGCGCCCTGCGCCTTCATATTTTTCTTAACCCTTCCTTTCTTCTTTAATTTTTTCCTGTGGGGGCATGTTGACCTGAGCTGGGGTCCACGCTGTCCGGGTTCTGTGTTCATCACATCCCCTGCCCGCACAGGACGTGAGCCTGCACTTCGTGCTCTGGGGCTGCCTGCACGTGTACCAGCGCATGATCGACAAGGCGGAGGACGTGTGCCTGTTCGTAGCGCAGCCCGGGGAACTGGTGGGGCAGCTGGCGGTGCTCACTGGCGAACCTCTCATCTTCACACTGCGAGCCCAACGCGACTGCACCTTCCTGCGGATCTCCAAGTCCGACTTCTATGAGTATGACAGCCCGAAGTTGGAGTGTGGGTGGCACTCGGAGGACCCCAACCCGTGGGAGTGGCCAGAACCCCATCCCTCAACCTCACTCCTGGAAGAGCAGAAGGGAGCCCCCAGATCTGGCCTCCCAGCGCCGGTGTAGGACGGTTTTGAGGCCTTCCTCTTTCATCCCAAGTCTGTTCCTGCAGGATCATGCGCGCACAGCCCAGTGTGGTGCTGAGTGCGGCGCACACGGTGGCAGCCAGGATGTCGCCCTTCGTGCGCCAGATGGACTTCGCCATCGACTGGACTGCAGTGGAGGCGGGACGCGCGCTGTACAGGTGCAGCTCCCACCGCGCTGCTCAGGCCCGGCCTAGGGGTGGGGACCTGGGGGTGGTCAGACCTTGCTGACCTCCACGCCCACTCAGGCAGGGCGACCGCTCCGACTGCACTTACATCGTGCTCAATGGGCGGCTGCGTAGCGTGATCCAGCGAGGCAGTGGCAAGAAGGAGCTGGTGGGCGAGTACGGCCGCGGCGACCTCATCGGCGTGGTGAGCGCGACCCCCACCCACTGACCTCTGGCCTTTTCCAGGCCAGTCCCTCGACAACTCACACACATCATCCCGGGTAATCCAGGGAGTGGTGAATGCAGCTCCCGACCTCTGAGGTCACCCAGTCCACTCCCCGCCCAGACCTCATTTCGTTGGAAAAAGGGGATTCCGCCTGTCGTGGATCCCTGTCCTCTCCCTCTCCCCAGAGCTCTAATGGGTAGCGAGCGAGGCTTGCTTCCCTACACCCCCATTGCAGGGGAGCCCTAGATGGGGCAGTACAGCCCCCTTTCCACCCATCTTCGGCCTCCTCATTCCCCACCCAAGCAGCCCCAATCATGCACGCGGCCCCCCAGGTGGAGGCACTGACCCGGCAGCCGCGAGCCACGACGGTGCACGCGGTGCGCGACACGGAGCTGGCCAAGCTTCCCGAGGGCACCTTGGGTCACATCAAACGCCGGTACCCGCAGGTGCGGCCTGTTGTGGGCGGGGCAGAGAGGCGGAGGCGGGACTCCGGGGGGGTGGGGGCCGGGCCTAGTGTGTGGGCGGGGCTTACAGAGGGGCGGGGTCGAGGGAGGGGCCGAAGCGAGAGAGTGAGGGCGGGGGCTCTCGGGGGTGGGACCCAGGTAACGGGCACCCAGGAGCCCCGGCATAGGAGGGAGAGGTGGGACCTGGACAGCCGCTTCCCAGGTCTCACTGAAATGCCGGCCTCCAACGCCCCCAGGTCGTGACCCGCCTTATCCACCTACTGAGCCAGAAAATTCTAGGGAATTTGCAGCAGCTGCAAGGACCCTTCCCAGGTGAGAGCCGGCCGGCCCAGAGCGTGCTGGGAGATGTAGTCCGGCGTCCAGAGCATGCTGGGAGGGAAGCCTTCTTTCCTGAGGGATGCTGGGAAATGGAGTTCCGCGAAGAAATCGTGCCCCTGAGGGTTTCAAACCCTAAGTAGGACCCAGGTGCAGAGCATTCTGGGGAATGGAGTTCGTGTTCCTGAGCATGCTGGGAAACGAAGTCCTCGACCCCTGGCGTGCTAGTTAATGGGCTCGAAAGTAAATCAGTGGTGCCGGGGAGGGAGTCTTAGGCGGTGGACTTGGCGTAGTCTGCCCGGGAGTCAGGGCTTGCTGGGGAAGTCCACGGCCTGGACGTTGAGAGAAAGGGAGTCCTAGATCAGAATATGATGGCAGGGCCGTCATGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGATTGAGTTTGAAACCAGCCTGGGCAACATAGTAGGACCCCCGTCTCTACAAAAATTTCAAACATTAGCTGGGCTTGGTGACACATGCCTGTAGTCTCAGCCACTCAGGAGGCTGAGGCGGGAGGATTGATTGCTTGAGCCCGGAGGTCGAGGCTGC
ACCCAGCCCCTTCAGTATACTTTAAATCAGGGGTGTCCAATCTTTTGGCTTCCCTGGGCCACATTGGAAGAATTGTCTTGGACCACACATAAAATACACTAACAGTTATAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCACTTTGAGAGGCCAAGGCGGTTGGATCACTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGTGGCAGGCACCTTTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACTCTGGAGGCAGAGGTTGCAGTGAGCCGAGTTTGTATCACTGCACTCCAGCCTGGGCAACAGAGCAAGACACCGTCTCAAAACCAACAAACCAAAAAACCCCACTAAAGATAGCTGATGAGCTAAAAGAAAAAAAATCGCAAAAAAAAAAAAAAAATCTCATAATGTTTTAACAAAGTTTATGAATTTGTGTTGGGCCAAATTCGAAGCCATCCTGGGCCACGTGCAGCCCGTGGGCAGCAGGGTGGACAAGCTTGCTTTAAATCATCTCGAGATTACTTATAATACCTAATACAATGTAAATGCTATGTAAATAGTCATTATACTGTATTATTTAGGGAAAAACGGGGAAAATAGTCTGTAAATGGTCTGCGCAGGTGCAATTTTTTTTTCCTGAATATTTTAGATCCAAGGTTGGTTGAATCCTGGGTATATGGAACATATATATATATATACACACACATATATATACACACATATATATATAGAGAGAGAGATGCTGCTCATCTATATATAATCTATGTAAAAAAATTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCTCCTCCCGGGTTCACGCCATTTTCCTGCCTCAGACTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTACTTTTAGTAGAGACGTGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCAGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCATCGCGCCCGGCTAAAAAATATTTTTATATTTATTTATATTTATATATAGATGGTGCTTATATCCAAAGTCTTTATTCTCTCCTTCATGTTTCTTTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCACGCTGGAGTGCAGTGGCGCGATCTTGGCTCATTGCAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCTTGATCCGCCTGCCTCGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTTCTTCTTCTTTTTTTTTTTAAAGACAGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCAGCCTTCCAGGTTCAGGCAATTCTCTTGCCTCAGCTTCCTGAGTAGCTGGAATTACAGACATGTGCCACGACGCCCAGCTAATTTTTTTATTTTAGTAGAGACAGGTTTCGCCACGTTGGCCAGGCTGGTGCCGAACTCCTGGCCTCAAGTGATCCCCCCTGCCTGGCCTCCCAAAGCGCTGGGATTACAGCCGTGAGCCACCGCGCCCTGCGCCTTCATATTTTTCTTAACCCTTCCTTTCTTCTTTAATTTTTTCCTGTGGGGGCATGTTGACCTGAGCTGGGGTCCACGCTGTCCGGGTTCTGTGTTCATCACATCCCCTGCCCGCACAGGACGTGAGCCTGCACTTCGTGCTCTGGGGCTGCCTGCACGTGTACCAGCGCATGATCGACAAGGCGGAGGACGTGTGCCTGTTCGTAGCGCAGCCCTGGGAACTGGTGGGGCAGCTGGCGGTGCTCACTGGCGAACCTCTCATCTTCACACTGCGAGCCCAACGCGACTGCACCTTCCTGCGGATCTCCAAGTCCGACTTCTATGAGTATGACAGCCCGAAGTTGGAGTGTGGGTGGCACTCGGAGGACCCCAACCCGTGGGAGTGGCCAGAACCCCATCCCTCAACCTCACTCCTGGAAGAGCAGAAGGGAGCCCCCAGATCTGGCCTCCCAGCGCCGGTGTAGGACGGTTTTGAGGCCTTCCTCTTTCATCCCAAGTCTGTTCCTGCAGGATCATGCGCGCACAGCCCAGTGTGGTGCTGAGTGCGGCGCACACGGTGGCAGCCAGGATGTCGCCCTTCGTGCGCCAGATGGACTTCGCCATCGACTGGACTGCAGTGGAGGCGGGACGCGCGCTGTACAGGTGCAGCTCCCACCGCGCTGCTCAGGCCCGGCCTAGGGGTGGGGACCTGGGGGTGGTCAGACCTTGCTGACCTCCACGCCCACTCAGGCAGGGCGACCGCTCCGACTGCACTTACATCGTGCTCAATGGGCGGCTGCGTAGCGTGATCCAGCGAGGCAGTGGCAAGAAGGAGCTGGTGGGCGAGTACGGCCGCGGCGACCTCATCGGCGTGGTGAGCGCGACCCCCACCCACTGACCTCTGGCCTTTTCCAGGCCAGTCCCTCGACAACTCACACACATCATCCCGGGTAATCCAGGGAGTGGTGAATGCAGCTCCCGACCTCTGAGGTCACCCAGTCCACTCCCCGCCCAGACCTCATTTCGTTGGAAAAAGGGGATTCCGCCTGTCGTGGATCCCTGTCCTCTCCCTCTCCCCAGAGCTCTAATGGGTAGCGAGCGAGGCTTGCTTCCCTACACCCCCATTGCAGGGGAGCCCTAGATGGGGCAGTACAGCCCCCTTTCCACCCATCTTCGGCCTCCTCATTCCCCACCCAAGCAGCCCCAATCATGCACGCGGCCCCCCAGGTGGAGGCACTGACCCGGCAGCCGCGAGCCACGACGGTGCACGCGGTGCGCGACACGGAGCTGGCCAAGCTTCCCGAGGGCACCTTGGGTCACATCAAACGCCGGTACCCGCAGGTGCGGCCTGTTGTGGGCGGGGCAGAGAGGCGGAGGCGGGACTCCGGGGGGGTGGGGGCCGGGCCTAGTGTGTGGGCGGGGCTTACAGAGGGGCGGGGTCGAGGGAGGGGCCGAAGCGAGAGAGTGAGGGCGGGGGCTCTCGGGGGTGGGACCCAGGTAACGGGCACCCAGGAGCCCCGGCATAGGAGGGAGAGGTGGGACCTGGACAGCCGCTTCCCAGGTCTCACTGAAATGCCGGCCTCCAACGCCCCCAGGTCGTGACCCGCCTTATCCACCTACTGAGCCAGAAAATTCTAGGGAATTTGCAGCAGCTGCAAGGACCCTTCCCAGGTGAGAGCCGGCCGGCCCAGAGCGTGCTGGGAGATGTAGTCCGGCGTCCAGAGCATGCTGGGAGGGAAGCCTTCTTTCCTGAGGGATGCTGGGAAATGGAGTTCCGCGAAGAAATCGTGCCCCTGAGGGTTTCAAACCCTAAGTAGGACCCAGGTGCAGAGCATTCTGGGGAATGGAGTTCGTGTTCCTGAGCATGCTGGGAAACGAAGTCCTCGACCCCTGGCGTGCTAGTTAATGGGCTCGAAAGTAAATCAGTGGTGCCGGGGAGGGAGTCTTAGGCGGTGGACTTGGCGTAGTCTGCCCGGGAGTCAGGGCTTGCTGGGGAAGTCCACGGCCTGGACGTTGAGAGAAAGGGAGTCCTAGATCAGAATATGATGGCAGGGCCGTCATGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGATTGAGTTTGAAACCAGCCTGGGCAACATAGTAGGACCCCCGTCTCTACAAAAATTTCAAACATTAGCTGGGCTTGGTGACACATGCCTGTAGTCTCAGCCACTCAGGAGGCTGAGGCGGGAGGATTGATTGCTTGAGCCCGGAGGTCGAGGCTGC
Task1_train_26377
Here is a genetic alteration in PNPLA6 (patatin like domain 6, lysophospholipase) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Laurence-Moon syndrome
GATCTCCTGACCTCGTGATCCGCCTGCCTCAGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCATCGCGCCCGGCTAAAAAATATTTTTATATTTATTTATATTTATATATAGATGGTGCTTATATCCAAAGTCTTTATTCTCTCCTTCATGTTTCTTTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCACGCTGGAGTGCAGTGGCGCGATCTTGGCTCATTGCAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCTTGATCCGCCTGCCTCGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTTCTTCTTCTTTTTTTTTTTAAAGACAGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCAGCCTTCCAGGTTCAGGCAATTCTCTTGCCTCAGCTTCCTGAGTAGCTGGAATTACAGACATGTGCCACGACGCCCAGCTAATTTTTTTATTTTAGTAGAGACAGGTTTCGCCACGTTGGCCAGGCTGGTGCCGAACTCCTGGCCTCAAGTGATCCCCCCTGCCTGGCCTCCCAAAGCGCTGGGATTACAGCCGTGAGCCACCGCGCCCTGCGCCTTCATATTTTTCTTAACCCTTCCTTTCTTCTTTAATTTTTTCCTGTGGGGGCATGTTGACCTGAGCTGGGGTCCACGCTGTCCGGGTTCTGTGTTCATCACATCCCCTGCCCGCACAGGACGTGAGCCTGCACTTCGTGCTCTGGGGCTGCCTGCACGTGTACCAGCGCATGATCGACAAGGCGGAGGACGTGTGCCTGTTCGTAGCGCAGCCCGGGGAACTGGTGGGGCAGCTGGCGGTGCTCACTGGCGAACCTCTCATCTTCACACTGCGAGCCCAACGCGACTGCACCTTCCTGCGGATCTCCAAGTCCGACTTCTATGAGTATGACAGCCCGAAGTTGGAGTGTGGGTGGCACTCGGAGGACCCCAACCCGTGGGAGTGGCCAGAACCCCATCCCTCAACCTCACTCCTGGAAGAGCAGAAGGGAGCCCCCAGATCTGGCCTCCCAGCGCCGGTGTAGGACGGTTTTGAGGCCTTCCTCTTTCATCCCAAGTCTGTTCCTGCAGGATCATGCGCGCACAGCCCAGTGTGGTGCTGAGTGCGGCGCACACGGTGGCAGCCAGGATGTCGCCCTTCGTGCGCCAGATGGACTTCGCCATCGACTGGACTGCAGTGGAGGCGGGACGCGCGCTGTACAGGTGCAGCTCCCACCGCGCTGCTCAGGCCCGGCCTAGGGGTGGGGACCTGGGGGTGGTCAGACCTTGCTGACCTCCACGCCCACTCAGGCAGGGCGACCGCTCCGACTGCACTTACATCGTGCTCAATGGGCGGCTGCGTAGCGTGATCCAGCGAGGCAGTGGCAAGAAGGAGCTGGTGGGCGAGTACGGCCGCGGCGACCTCATCGGCGTGGTGAGCGCGACCCCCACCCACTGACCTCTGGCCTTTTCCAGGCCAGTCCCTCGACAACTCACACACATCATCCCGGGTAATCCAGGGAGTGGTGAATGCAGCTCCCGACCTCTGAGGTCACCCAGTCCACTCCCCGCCCAGACCTCATTTCGTTGGAAAAAGGGGATTCCGCCTGTCGTGGATCCCTGTCCTCTCCCTCTCCCCAGAGCTCTAATGGGTAGCGAGCGAGGCTTGCTTCCCTACACCCCCATTGCAGGGGAGCCCTAGATGGGGCAGTACAGCCCCCTTTCCACCCATCTTCGGCCTCCTCATTCCCCACCCAAGCAGCCCCAATCATGCACGCGGCCCCCCAGGTGGAGGCACTGACCCGGCAGCCGCGAGCCACGACGGTGCACGCGGTGCGCGACACGGAGCTGGCCAAGCTTCCCGAGGGCACCTTGGGTCACATCAAACGCCGGTACCCGCAGGTGCGGCCTGTTGTGGGCGGGGCAGAGAGGCGGAGGCGGGACTCCGGGGGGGTGGGGGCCGGGCCTAGTGTGTGGGCGGGGCTTACAGAGGGGCGGGGTCGAGGGAGGGGCCGAAGCGAGAGAGTGAGGGCGGGGGCTCTCGGGGGTGGGACCCAGGTAACGGGCACCCAGGAGCCCCGGCATAGGAGGGAGAGGTGGGACCTGGACAGCCGCTTCCCAGGTCTCACTGAAATGCCGGCCTCCAACGCCCCCAGGTCGTGACCCGCCTTATCCACCTACTGAGCCAGAAAATTCTAGGGAATTTGCAGCAGCTGCAAGGACCCTTCCCAGGTGAGAGCCGGCCGGCCCAGAGCGTGCTGGGAGATGTAGTCCGGCGTCCAGAGCATGCTGGGAGGGAAGCCTTCTTTCCTGAGGGATGCTGGGAAATGGAGTTCCGCGAAGAAATCGTGCCCCTGAGGGTTTCAAACCCTAAGTAGGACCCAGGTGCAGAGCATTCTGGGGAATGGAGTTCGTGTTCCTGAGCATGCTGGGAAACGAAGTCCTCGACCCCTGGCGTGCTAGTTAATGGGCTCGAAAGTAAATCAGTGGTGCCGGGGAGGGAGTCTTAGGCGGTGGACTTGGCGTAGTCTGCCCGGGAGTCAGGGCTTGCTGGGGAAGTCCACGGCCTGGACGTTGAGAGAAAGGGAGTCCTAGATCAGAATATGATGGCAGGGCCGTCATGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGATTGAGTTTGAAACCAGCCTGGGCAACATAGTAGGACCCCCGTCTCTACAAAAATTTCAAACATTAGCTGGGCTTGGTGACACATGCCTGTAGTCTCAGCCACTCAGGAGGCTGAGGCGGGAGGATTGATTGCTTGAGCCCGGAGGTCGAGGCTGCAGTGAGCCGTGATCGTGCCACTGTACTCCAGCCGGGATGACAGAGCTAGAACCTGTTTCAGAAAAAATAAAACAGCAAACAAACAAAACTCCCCATACCATGATGGAAAATAGTCTGTGGATTGTTGTTTAGGACTCTGGGCACCTCGCCTTCTGAAGTTACAGCTTGCTGGGAGATGTAGCCCCCTGTTTCAGCCTGTGGCTTCAGTGAGCTAGAACAGAATGGGGCGTGCGGTGGGGTTGGAGGCCTGCTGAAATGAGGGCCTGAGTTTCTACATTGTGGTGGCCAGATTCTGGGCCAGCCCAGCAACCTAGATACCCCTTTTCCCTCCAGGGGTTCTACCCAATTGGCCCTGAGCCCTAGATCCCCCAAGGCGGGGGCAGGGCGGTAGTGGCAGAAAAGACATCATTAAGAAATTACAGAGGCCTGGGGCGGTGGGTCACGCCTGTAATCTCAGCACTTTGTGAGGCTGAGGCAGGTGAATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCATCTCTACTAAAAGTACAAAAATTAGTCGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGACGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCCGAGCCTACGCCATTGCACTCCAGCCTGGGCAACCAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGAAAGAAAAAAAAAAAGAAAAGAAAAGGAAAGAAATTACAGATAGAGAATACAATATCTAGAAGACAAAAGAGGGTCATCTTGCCGTGTGGCTGAAAGAGGGAGGGAGGAAGGGAGGGAGAAAGAGGCTTTTCTAAGGACAGTGAGCTGAGACTTGACAACTAAGATGGGGCCAGACATGAAAGAGAAACCAGGGGTGCTGCACAGGAGGCTGGTGGTTTTGAAGCACTGAGGAGGAAAGCGATCAAGGGGAGAGGTGATGGGGGTTGGGGGGTAAGTCACATAGGGGCTAGGGGCTGTGGACAGGCACTTGAGCTTATTTAGATTGTTATTGTTAGATTGGGGAGGAAGG
GATCTCCTGACCTCGTGATCCGCCTGCCTCAGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCATCGCGCCCGGCTAAAAAATATTTTTATATTTATTTATATTTATATATAGATGGTGCTTATATCCAAAGTCTTTATTCTCTCCTTCATGTTTCTTTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCACGCTGGAGTGCAGTGGCGCGATCTTGGCTCATTGCAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCTTGATCCGCCTGCCTCGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTTCTTCTTCTTTTTTTTTTTAAAGACAGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCAGCCTTCCAGGTTCAGGCAATTCTCTTGCCTCAGCTTCCTGAGTAGCTGGAATTACAGACATGTGCCACGACGCCCAGCTAATTTTTTTATTTTAGTAGAGACAGGTTTCGCCACGTTGGCCAGGCTGGTGCCGAACTCCTGGCCTCAAGTGATCCCCCCTGCCTGGCCTCCCAAAGCGCTGGGATTACAGCCGTGAGCCACCGCGCCCTGCGCCTTCATATTTTTCTTAACCCTTCCTTTCTTCTTTAATTTTTTCCTGTGGGGGCATGTTGACCTGAGCTGGGGTCCACGCTGTCCGGGTTCTGTGTTCATCACATCCCCTGCCCGCACAGGACGTGAGCCTGCACTTCGTGCTCTGGGGCTGCCTGCACGTGTACCAGCGCATGATCGACAAGGCGGAGGACGTGTGCCTGTTCGTAGCGCAGCCCGGGGAACTGGTGGGGCAGCTGGCGGTGCTCACTGGCGAACCTCTCATCTTCACACTGCGAGCCCAACGCGACTGCACCTTCCTGCGGATCTCCAAGTCCGACTTCTATGAGTATGACAGCCCGAAGTTGGAGTGTGGGTGGCACTCGGAGGACCCCAACCCGTGGGAGTGGCCAGAACCCCATCCCTCAACCTCACTCCTGGAAGAGCAGAAGGGAGCCCCCAGATCTGGCCTCCCAGCGCCGGTGTAGGACGGTTTTGAGGCCTTCCTCTTTCATCCCAAGTCTGTTCCTGCAGGATCATGCGCGCACAGCCCAGTGTGGTGCTGAGTGCGGCGCACACGGTGGCAGCCAGGATGTCGCCCTTCGTGCGCCAGATGGACTTCGCCATCGACTGGACTGCAGTGGAGGCGGGACGCGCGCTGTACAGGTGCAGCTCCCACCGCGCTGCTCAGGCCCGGCCTAGGGGTGGGGACCTGGGGGTGGTCAGACCTTGCTGACCTCCACGCCCACTCAGGCAGGGCGACCGCTCCGACTGCACTTACATCGTGCTCAATGGGCGGCTGCGTAGCGTGATCCAGCGAGGCAGTGGCAAGAAGGAGCTGGTGGGCGAGTACGGCCGCGGCGACCTCATCGGCGTGGTGAGCGCGACCCCCACCCACTGACCTCTGGCCTTTTCCAGGCCAGTCCCTCGACAACTCACACACATCATCCCGGGTAATCCAGGGAGTGGTGAATGCAGCTCCCGACCTCTGAGGTCACCCAGTCCACTCCCCGCCCAGACCTCATTTCGTTGGAAAAAGGGGATTCCGCCTGTCGTGGATCCCTGTCCTCTCCCTCTCCCCAGAGCTCTAATGGGTAGCGAGCGAGGCTTGCTTCCCTACACCCCCATTGCAGGGGAGCCCTAGATGGGGCAGTACAGCCCCCTTTCCACCCATCTTCGGCCTCCTCATTCCCCACCCAAGCAGCCCCAATCATGCACGCGGCCCCCCAGGTGGAGGCACTGACCCGGCAGCCGCGAGCCACGACGGTGCACGCGGTGCGCGACACGGAGCTGGCCAAGCTTCCCGAGCGCACCTTGGGTCACATCAAACGCCGGTACCCGCAGGTGCGGCCTGTTGTGGGCGGGGCAGAGAGGCGGAGGCGGGACTCCGGGGGGGTGGGGGCCGGGCCTAGTGTGTGGGCGGGGCTTACAGAGGGGCGGGGTCGAGGGAGGGGCCGAAGCGAGAGAGTGAGGGCGGGGGCTCTCGGGGGTGGGACCCAGGTAACGGGCACCCAGGAGCCCCGGCATAGGAGGGAGAGGTGGGACCTGGACAGCCGCTTCCCAGGTCTCACTGAAATGCCGGCCTCCAACGCCCCCAGGTCGTGACCCGCCTTATCCACCTACTGAGCCAGAAAATTCTAGGGAATTTGCAGCAGCTGCAAGGACCCTTCCCAGGTGAGAGCCGGCCGGCCCAGAGCGTGCTGGGAGATGTAGTCCGGCGTCCAGAGCATGCTGGGAGGGAAGCCTTCTTTCCTGAGGGATGCTGGGAAATGGAGTTCCGCGAAGAAATCGTGCCCCTGAGGGTTTCAAACCCTAAGTAGGACCCAGGTGCAGAGCATTCTGGGGAATGGAGTTCGTGTTCCTGAGCATGCTGGGAAACGAAGTCCTCGACCCCTGGCGTGCTAGTTAATGGGCTCGAAAGTAAATCAGTGGTGCCGGGGAGGGAGTCTTAGGCGGTGGACTTGGCGTAGTCTGCCCGGGAGTCAGGGCTTGCTGGGGAAGTCCACGGCCTGGACGTTGAGAGAAAGGGAGTCCTAGATCAGAATATGATGGCAGGGCCGTCATGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGATTGAGTTTGAAACCAGCCTGGGCAACATAGTAGGACCCCCGTCTCTACAAAAATTTCAAACATTAGCTGGGCTTGGTGACACATGCCTGTAGTCTCAGCCACTCAGGAGGCTGAGGCGGGAGGATTGATTGCTTGAGCCCGGAGGTCGAGGCTGCAGTGAGCCGTGATCGTGCCACTGTACTCCAGCCGGGATGACAGAGCTAGAACCTGTTTCAGAAAAAATAAAACAGCAAACAAACAAAACTCCCCATACCATGATGGAAAATAGTCTGTGGATTGTTGTTTAGGACTCTGGGCACCTCGCCTTCTGAAGTTACAGCTTGCTGGGAGATGTAGCCCCCTGTTTCAGCCTGTGGCTTCAGTGAGCTAGAACAGAATGGGGCGTGCGGTGGGGTTGGAGGCCTGCTGAAATGAGGGCCTGAGTTTCTACATTGTGGTGGCCAGATTCTGGGCCAGCCCAGCAACCTAGATACCCCTTTTCCCTCCAGGGGTTCTACCCAATTGGCCCTGAGCCCTAGATCCCCCAAGGCGGGGGCAGGGCGGTAGTGGCAGAAAAGACATCATTAAGAAATTACAGAGGCCTGGGGCGGTGGGTCACGCCTGTAATCTCAGCACTTTGTGAGGCTGAGGCAGGTGAATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCATCTCTACTAAAAGTACAAAAATTAGTCGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGACGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCCGAGCCTACGCCATTGCACTCCAGCCTGGGCAACCAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGAAAGAAAAAAAAAAAGAAAAGAAAAGGAAAGAAATTACAGATAGAGAATACAATATCTAGAAGACAAAAGAGGGTCATCTTGCCGTGTGGCTGAAAGAGGGAGGGAGGAAGGGAGGGAGAAAGAGGCTTTTCTAAGGACAGTGAGCTGAGACTTGACAACTAAGATGGGGCCAGACATGAAAGAGAAACCAGGGGTGCTGCACAGGAGGCTGGTGGTTTTGAAGCACTGAGGAGGAAAGCGATCAAGGGGAGAGGTGATGGGGGTTGGGGGGTAAGTCACATAGGGGCTAGGGGCTGTGGACAGGCACTTGAGCTTATTTAGATTGTTATTGTTAGATTGGGGAGGAAGG
Task1_train_26378
A variant has been detected on Chromosome 19 in PNPLA6 (patatin like domain 6, lysophospholipase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Spastic ataxia
CCTCCCAAAGTGTTGGGATTACAGGCATGAGCCATCGCGCCCGGCTAAAAAATATTTTTATATTTATTTATATTTATATATAGATGGTGCTTATATCCAAAGTCTTTATTCTCTCCTTCATGTTTCTTTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCACGCTGGAGTGCAGTGGCGCGATCTTGGCTCATTGCAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCTTGATCCGCCTGCCTCGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTTCTTCTTCTTTTTTTTTTTAAAGACAGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCAGCCTTCCAGGTTCAGGCAATTCTCTTGCCTCAGCTTCCTGAGTAGCTGGAATTACAGACATGTGCCACGACGCCCAGCTAATTTTTTTATTTTAGTAGAGACAGGTTTCGCCACGTTGGCCAGGCTGGTGCCGAACTCCTGGCCTCAAGTGATCCCCCCTGCCTGGCCTCCCAAAGCGCTGGGATTACAGCCGTGAGCCACCGCGCCCTGCGCCTTCATATTTTTCTTAACCCTTCCTTTCTTCTTTAATTTTTTCCTGTGGGGGCATGTTGACCTGAGCTGGGGTCCACGCTGTCCGGGTTCTGTGTTCATCACATCCCCTGCCCGCACAGGACGTGAGCCTGCACTTCGTGCTCTGGGGCTGCCTGCACGTGTACCAGCGCATGATCGACAAGGCGGAGGACGTGTGCCTGTTCGTAGCGCAGCCCGGGGAACTGGTGGGGCAGCTGGCGGTGCTCACTGGCGAACCTCTCATCTTCACACTGCGAGCCCAACGCGACTGCACCTTCCTGCGGATCTCCAAGTCCGACTTCTATGAGTATGACAGCCCGAAGTTGGAGTGTGGGTGGCACTCGGAGGACCCCAACCCGTGGGAGTGGCCAGAACCCCATCCCTCAACCTCACTCCTGGAAGAGCAGAAGGGAGCCCCCAGATCTGGCCTCCCAGCGCCGGTGTAGGACGGTTTTGAGGCCTTCCTCTTTCATCCCAAGTCTGTTCCTGCAGGATCATGCGCGCACAGCCCAGTGTGGTGCTGAGTGCGGCGCACACGGTGGCAGCCAGGATGTCGCCCTTCGTGCGCCAGATGGACTTCGCCATCGACTGGACTGCAGTGGAGGCGGGACGCGCGCTGTACAGGTGCAGCTCCCACCGCGCTGCTCAGGCCCGGCCTAGGGGTGGGGACCTGGGGGTGGTCAGACCTTGCTGACCTCCACGCCCACTCAGGCAGGGCGACCGCTCCGACTGCACTTACATCGTGCTCAATGGGCGGCTGCGTAGCGTGATCCAGCGAGGCAGTGGCAAGAAGGAGCTGGTGGGCGAGTACGGCCGCGGCGACCTCATCGGCGTGGTGAGCGCGACCCCCACCCACTGACCTCTGGCCTTTTCCAGGCCAGTCCCTCGACAACTCACACACATCATCCCGGGTAATCCAGGGAGTGGTGAATGCAGCTCCCGACCTCTGAGGTCACCCAGTCCACTCCCCGCCCAGACCTCATTTCGTTGGAAAAAGGGGATTCCGCCTGTCGTGGATCCCTGTCCTCTCCCTCTCCCCAGAGCTCTAATGGGTAGCGAGCGAGGCTTGCTTCCCTACACCCCCATTGCAGGGGAGCCCTAGATGGGGCAGTACAGCCCCCTTTCCACCCATCTTCGGCCTCCTCATTCCCCACCCAAGCAGCCCCAATCATGCACGCGGCCCCCCAGGTGGAGGCACTGACCCGGCAGCCGCGAGCCACGACGGTGCACGCGGTGCGCGACACGGAGCTGGCCAAGCTTCCCGAGGGCACCTTGGGTCACATCAAACGCCGGTACCCGCAGGTGCGGCCTGTTGTGGGCGGGGCAGAGAGGCGGAGGCGGGACTCCGGGGGGGTGGGGGCCGGGCCTAGTGTGTGGGCGGGGCTTACAGAGGGGCGGGGTCGAGGGAGGGGCCGAAGCGAGAGAGTGAGGGCGGGGGCTCTCGGGGGTGGGACCCAGGTAACGGGCACCCAGGAGCCCCGGCATAGGAGGGAGAGGTGGGACCTGGACAGCCGCTTCCCAGGTCTCACTGAAATGCCGGCCTCCAACGCCCCCAGGTCGTGACCCGCCTTATCCACCTACTGAGCCAGAAAATTCTAGGGAATTTGCAGCAGCTGCAAGGACCCTTCCCAGGTGAGAGCCGGCCGGCCCAGAGCGTGCTGGGAGATGTAGTCCGGCGTCCAGAGCATGCTGGGAGGGAAGCCTTCTTTCCTGAGGGATGCTGGGAAATGGAGTTCCGCGAAGAAATCGTGCCCCTGAGGGTTTCAAACCCTAAGTAGGACCCAGGTGCAGAGCATTCTGGGGAATGGAGTTCGTGTTCCTGAGCATGCTGGGAAACGAAGTCCTCGACCCCTGGCGTGCTAGTTAATGGGCTCGAAAGTAAATCAGTGGTGCCGGGGAGGGAGTCTTAGGCGGTGGACTTGGCGTAGTCTGCCCGGGAGTCAGGGCTTGCTGGGGAAGTCCACGGCCTGGACGTTGAGAGAAAGGGAGTCCTAGATCAGAATATGATGGCAGGGCCGTCATGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGATTGAGTTTGAAACCAGCCTGGGCAACATAGTAGGACCCCCGTCTCTACAAAAATTTCAAACATTAGCTGGGCTTGGTGACACATGCCTGTAGTCTCAGCCACTCAGGAGGCTGAGGCGGGAGGATTGATTGCTTGAGCCCGGAGGTCGAGGCTGCAGTGAGCCGTGATCGTGCCACTGTACTCCAGCCGGGATGACAGAGCTAGAACCTGTTTCAGAAAAAATAAAACAGCAAACAAACAAAACTCCCCATACCATGATGGAAAATAGTCTGTGGATTGTTGTTTAGGACTCTGGGCACCTCGCCTTCTGAAGTTACAGCTTGCTGGGAGATGTAGCCCCCTGTTTCAGCCTGTGGCTTCAGTGAGCTAGAACAGAATGGGGCGTGCGGTGGGGTTGGAGGCCTGCTGAAATGAGGGCCTGAGTTTCTACATTGTGGTGGCCAGATTCTGGGCCAGCCCAGCAACCTAGATACCCCTTTTCCCTCCAGGGGTTCTACCCAATTGGCCCTGAGCCCTAGATCCCCCAAGGCGGGGGCAGGGCGGTAGTGGCAGAAAAGACATCATTAAGAAATTACAGAGGCCTGGGGCGGTGGGTCACGCCTGTAATCTCAGCACTTTGTGAGGCTGAGGCAGGTGAATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCATCTCTACTAAAAGTACAAAAATTAGTCGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGACGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCCGAGCCTACGCCATTGCACTCCAGCCTGGGCAACCAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGAAAGAAAAAAAAAAAGAAAAGAAAAGGAAAGAAATTACAGATAGAGAATACAATATCTAGAAGACAAAAGAGGGTCATCTTGCCGTGTGGCTGAAAGAGGGAGGGAGGAAGGGAGGGAGAAAGAGGCTTTTCTAAGGACAGTGAGCTGAGACTTGACAACTAAGATGGGGCCAGACATGAAAGAGAAACCAGGGGTGCTGCACAGGAGGCTGGTGGTTTTGAAGCACTGAGGAGGAAAGCGATCAAGGGGAGAGGTGATGGGGGTTGGGGGGTAAGTCACATAGGGGCTAGGGGCTGTGGACAGGCACTTGAGCTTATTTAGATTGTTATTGTTAGATTGGGGAGGAAGGATTCCACCAGTAAGGAGGCAACAAGAGGTCTAG
CCTCCCAAAGTGTTGGGATTACAGGCATGAGCCATCGCGCCCGGCTAAAAAATATTTTTATATTTATTTATATTTATATATAGATGGTGCTTATATCCAAAGTCTTTATTCTCTCCTTCATGTTTCTTTTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCACGCTGGAGTGCAGTGGCGCGATCTTGGCTCATTGCAAGCTCCGCCTCCCGGTTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTCAGTAGAGACGGGGTTTCACTGTATTAGCCAGGATGGTCTCGATCTCCTGACCTCTTGATCCGCCTGCCTCGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTTCTTCTTCTTTTTTTTTTTAAAGACAGTGTCTCACTCTGTCGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCAGCCTTCCAGGTTCAGGCAATTCTCTTGCCTCAGCTTCCTGAGTAGCTGGAATTACAGACATGTGCCACGACGCCCAGCTAATTTTTTTATTTTAGTAGAGACAGGTTTCGCCACGTTGGCCAGGCTGGTGCCGAACTCCTGGCCTCAAGTGATCCCCCCTGCCTGGCCTCCCAAAGCGCTGGGATTACAGCCGTGAGCCACCGCGCCCTGCGCCTTCATATTTTTCTTAACCCTTCCTTTCTTCTTTAATTTTTTCCTGTGGGGGCATGTTGACCTGAGCTGGGGTCCACGCTGTCCGGGTTCTGTGTTCATCACATCCCCTGCCCGCACAGGACGTGAGCCTGCACTTCGTGCTCTGGGGCTGCCTGCACGTGTACCAGCGCATGATCGACAAGGCGGAGGACGTGTGCCTGTTCGTAGCGCAGCCCGGGGAACTGGTGGGGCAGCTGGCGGTGCTCACTGGCGAACCTCTCATCTTCACACTGCGAGCCCAACGCGACTGCACCTTCCTGCGGATCTCCAAGTCCGACTTCTATGAGTATGACAGCCCGAAGTTGGAGTGTGGGTGGCACTCGGAGGACCCCAACCCGTGGGAGTGGCCAGAACCCCATCCCTCAACCTCACTCCTGGAAGAGCAGAAGGGAGCCCCCAGATCTGGCCTCCCAGCGCCGGTGTAGGACGGTTTTGAGGCCTTCCTCTTTCATCCCAAGTCTGTTCCTGCAGGATCATGCGCGCACAGCCCAGTGTGGTGCTGAGTGCGGCGCACACGGTGGCAGCCAGGATGTCGCCCTTCGTGCGCCAGATGGACTTCGCCATCGACTGGACTGCAGTGGAGGCGGGACGCGCGCTGTACAGGTGCAGCTCCCACCGCGCTGCTCAGGCCCGGCCTAGGGGTGGGGACCTGGGGGTGGTCAGACCTTGCTGACCTCCACGCCCACTCAGGCAGGGCGACCGCTCCGACTGCACTTACATCGTGCTCAATGGGCGGCTGCGTAGCGTGATCCAGCGAGGCAGTGGCAAGAAGGAGCTGGTGGGCGAGTACGGCCGCGGCGACCTCATCGGCGTGGTGAGCGCGACCCCCACCCACTGACCTCTGGCCTTTTCCAGGCCAGTCCCTCGACAACTCACACACATCATCCCGGGTAATCCAGGGAGTGGTGAATGCAGCTCCCGACCTCTGAGGTCACCCAGTCCACTCCCCGCCCAGACCTCATTTCGTTGGAAAAAGGGGATTCCGCCTGTCGTGGATCCCTGTCCTCTCCCTCTCCCCAGAGCTCTAATGGGTAGCGAGCGAGGCTTGCTTCCCTACACCCCCATTGCAGGGGAGCCCTAGATGGGGCAGTACAGCCCCCTTTCCACCCATCTTCGGCCTCCTCATTCCCCACCCAAGCAGCCCCAATCATGCACGCGGCCCCCCAGGTGGAGGCACTGACCCGGCAGCCGCGAGCCACGACGGTGCACGCGGTGCGCGACACGGAGCTGGCCAAGCTTCCCGAGGGCACCTTGGGTCACATCAAACGCCGGTACCCGAAGGTGCGGCCTGTTGTGGGCGGGGCAGAGAGGCGGAGGCGGGACTCCGGGGGGGTGGGGGCCGGGCCTAGTGTGTGGGCGGGGCTTACAGAGGGGCGGGGTCGAGGGAGGGGCCGAAGCGAGAGAGTGAGGGCGGGGGCTCTCGGGGGTGGGACCCAGGTAACGGGCACCCAGGAGCCCCGGCATAGGAGGGAGAGGTGGGACCTGGACAGCCGCTTCCCAGGTCTCACTGAAATGCCGGCCTCCAACGCCCCCAGGTCGTGACCCGCCTTATCCACCTACTGAGCCAGAAAATTCTAGGGAATTTGCAGCAGCTGCAAGGACCCTTCCCAGGTGAGAGCCGGCCGGCCCAGAGCGTGCTGGGAGATGTAGTCCGGCGTCCAGAGCATGCTGGGAGGGAAGCCTTCTTTCCTGAGGGATGCTGGGAAATGGAGTTCCGCGAAGAAATCGTGCCCCTGAGGGTTTCAAACCCTAAGTAGGACCCAGGTGCAGAGCATTCTGGGGAATGGAGTTCGTGTTCCTGAGCATGCTGGGAAACGAAGTCCTCGACCCCTGGCGTGCTAGTTAATGGGCTCGAAAGTAAATCAGTGGTGCCGGGGAGGGAGTCTTAGGCGGTGGACTTGGCGTAGTCTGCCCGGGAGTCAGGGCTTGCTGGGGAAGTCCACGGCCTGGACGTTGAGAGAAAGGGAGTCCTAGATCAGAATATGATGGCAGGGCCGTCATGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGATTGAGTTTGAAACCAGCCTGGGCAACATAGTAGGACCCCCGTCTCTACAAAAATTTCAAACATTAGCTGGGCTTGGTGACACATGCCTGTAGTCTCAGCCACTCAGGAGGCTGAGGCGGGAGGATTGATTGCTTGAGCCCGGAGGTCGAGGCTGCAGTGAGCCGTGATCGTGCCACTGTACTCCAGCCGGGATGACAGAGCTAGAACCTGTTTCAGAAAAAATAAAACAGCAAACAAACAAAACTCCCCATACCATGATGGAAAATAGTCTGTGGATTGTTGTTTAGGACTCTGGGCACCTCGCCTTCTGAAGTTACAGCTTGCTGGGAGATGTAGCCCCCTGTTTCAGCCTGTGGCTTCAGTGAGCTAGAACAGAATGGGGCGTGCGGTGGGGTTGGAGGCCTGCTGAAATGAGGGCCTGAGTTTCTACATTGTGGTGGCCAGATTCTGGGCCAGCCCAGCAACCTAGATACCCCTTTTCCCTCCAGGGGTTCTACCCAATTGGCCCTGAGCCCTAGATCCCCCAAGGCGGGGGCAGGGCGGTAGTGGCAGAAAAGACATCATTAAGAAATTACAGAGGCCTGGGGCGGTGGGTCACGCCTGTAATCTCAGCACTTTGTGAGGCTGAGGCAGGTGAATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCATCTCTACTAAAAGTACAAAAATTAGTCGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGACGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCCGAGCCTACGCCATTGCACTCCAGCCTGGGCAACCAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGAAAGAAAAAAAAAAAGAAAAGAAAAGGAAAGAAATTACAGATAGAGAATACAATATCTAGAAGACAAAAGAGGGTCATCTTGCCGTGTGGCTGAAAGAGGGAGGGAGGAAGGGAGGGAGAAAGAGGCTTTTCTAAGGACAGTGAGCTGAGACTTGACAACTAAGATGGGGCCAGACATGAAAGAGAAACCAGGGGTGCTGCACAGGAGGCTGGTGGTTTTGAAGCACTGAGGAGGAAAGCGATCAAGGGGAGAGGTGATGGGGGTTGGGGGGTAAGTCACATAGGGGCTAGGGGCTGTGGACAGGCACTTGAGCTTATTTAGATTGTTATTGTTAGATTGGGGAGGAAGGATTCCACCAGTAAGGAGGCAACAAGAGGTCTAG
Task1_train_26379
A variant found in Chromosome 19 affects PNPLA6 (patatin like domain 6, lysophospholipase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Hereditary spastic paraplegia 39
TGAATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCATCTCTACTAAAAGTACAAAAATTAGTCGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGACGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCCGAGCCTACGCCATTGCACTCCAGCCTGGGCAACCAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGAAAGAAAAAAAAAAAGAAAAGAAAAGGAAAGAAATTACAGATAGAGAATACAATATCTAGAAGACAAAAGAGGGTCATCTTGCCGTGTGGCTGAAAGAGGGAGGGAGGAAGGGAGGGAGAAAGAGGCTTTTCTAAGGACAGTGAGCTGAGACTTGACAACTAAGATGGGGCCAGACATGAAAGAGAAACCAGGGGTGCTGCACAGGAGGCTGGTGGTTTTGAAGCACTGAGGAGGAAAGCGATCAAGGGGAGAGGTGATGGGGGTTGGGGGGTAAGTCACATAGGGGCTAGGGGCTGTGGACAGGCACTTGAGCTTATTTAGATTGTTATTGTTAGATTGGGGAGGAAGGATTCCACCAGTAAGGAGGCAACAAGAGGTCTAGGCAAGATATGGGAGTTGACAGCTGGTCTAGGCTGTTAGTGGAGAAACTGGGAAGCAACAGCTGGGTCAAAAGTAGCTTTTCTTTTCTTGTCTTTGTCTTTTCTTTTATTTTCTTTTTAAGACAGGGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTATGCCACCATGCCTGGCTAATTGTTGTGTATTTTTAGTAGAGCAGTGTTTCTCCATGTTGGCTAGGCTAAAAATAGCTTTATTTCTGCCTCGTTTTATGTTCAGGTCCCCCATTAGACAGAGGAACCAAGGCCAGAATGAGGCAGGGGCACTGGCCAATTGATCTCCCAAGCACAGTGAATCTGAATGGTTGTAGAGTTGTGTAATGGATCCCACTGAGGTGATCAGGGCCCAAAGTGGAGGGTAGATGGCCAGGTTTTAACAAAAGAGGGAATAGTAGTTGAGGCTGAGGGTCCAGGACCAGAGCCATGGCTTTCTGTATGGTAGAGTCAAGACTTTGGGCAACTGGGGGCTGCAGTCTGGGAGCACAGGAGCAAGAATTTCAGATAAGGAGGAAGAGGAAGAAGAGGAGGAGGAGGGTTCATCTCTCTGGACACAGGTTCGCACCACAAATCTCATCCATTGGGTTCTTAGCAGGCTCTGGGTTGGGTGTGCCCCCACACTCGGAACTCACCAACCCAGCCAGCAACCTGGCAACTGTGGCAATCCTGCCTGTGTGTGCTGAGGTCCCCATGGTGGCCTTCACGCTGGAGCTGCAGCACGCCCTGCAGGCCATCGGTCAGTGGGGTGAGGGTCATGGGTGGGGGCTGGCGGTGGGTGGGACATTAGTGAGTGAGAGATGTTAGGGTAGGTCATTTGGGGGGTGGAGGGGAACAGGGCCACAGGGGCGGGGTAATGGGTATTCTTTTCTGAGTTAGGCCCCAGCCCTGTGGACCATGGTTCCCAGCCTCCCTTCCCCACCTACCCCTAGGTCCGACGCTACTCCTTAACAGTGACATCATCCGGGCACGCCTGGGGGCCTCCGCACTGGATAGGTGTGTGTTGCAGAAGGGAGTGGGGAGGGTGGTGGGTGGGCCTGGAGCCTCAAATTCTTTCAGACCTGAGTTCAAGTTCTTGGCTTCCAACCACGGAGCCTGCGTCTTACCCATAGGTCAATGGGGAGATTCGCAGTGGTGTGAATCTGCCCACCGGAGCACGGACTTCCGTGGTGGGGGTTTGGGTGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCACGTGCACCCTCGCCATGGGGGTAGGCGATCAGGGACCCAGGTGTGGCCAGGTGGTGGTGGGGCGGCTGGTGACCTCAGCCGTCCGTATTCCGCAGCTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAAGCTGGTGAGGAGCGGGCCGGCCCCCACCTTCTAGGGGCGTGGCTGGTGGGCGAGGCTTGGGAGACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCCCTGCTC
TGAATCACTTGAGGTCAGGGGTTCGAGACCAGCCTGGCCAACGTGGTGAAACTCATCTCTACTAAAAGTACAAAAATTAGTCGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGACGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCCGAGCCTACGCCATTGCACTCCAGCCTGGGCAACCAGAGCAAAACTCCATCTCAAAAAAAAAAAAAGAAAGAAAAAAAAAAAGAAAAGAAAAGGAAAGAAATTACAGATAGAGAATACAATATCTAGAAGACAAAAGAGGGTCATCTTGCCGTGTGGCTGAAAGAGGGAGGGAGGAAGGGAGGGAGAAAGAGGCTTTTCTAAGGACAGTGAGCTGAGACTTGACAACTAAGATGGGGCCAGACATGAAAGAGAAACCAGGGGTGCTGCACAGGAGGCTGGTGGTTTTGAAGCACTGAGGAGGAAAGCGATCAAGGGGAGAGGTGATGGGGGTTGGGGGGTAAGTCACATAGGGGCTAGGGGCTGTGGACAGGCACTTGAGCTTATTTAGATTGTTATTGTTAGATTGGGGAGGAAGGATTCCACCAGTAAGGAGGCAACAAGAGGTCTAGGCAAGATATGGGAGTTGACAGCTGGTCTAGGCTGTTAGTGGAGAAACTGGGAAGCAACAGCTGGGTCAAAAGTAGCTTTTCTTTTCTTGTCTTTGTCTTTTCTTTTATTTTCTTTTTAAGACAGGGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTATGCCACCATGCCTGGCTAATTGTTGTGTATTTTTAGTAGAGCAGTGTTTCTCCATGTTGGCTAGGCTAAAAATAGCTTTATTTCTGCCTCGTTTTATGTTCAGGTCCCCCATTAGACAGAGGAACCAAGGCCAGAATGAGGCAGGGGCACTGGCCAATTGATCTCCCAAGCACAGTGAATCTGAATGGTTGTAGAGTTGTGTAATGGATCCCACTGAGGTGATCAGGGCCCAAAGTGGAGGGTAGATGGCCAGGTTTTAACAAAAGAGGGAATAGTAGTTGAGGCTGAGGGTCCAGGACCAGAGCCATGGCTTTCTGTATGGTAGAGTCAAGACTTTGGGCAACTGGGGGCTGCAGTCTGGGAGCACAGGAGCAAGAATTTCAGATAAGGAGGAAGAGGAAGAAGAGGAGGAGGAGGGTTCATCTCTCTGGACACAGGTTCGCACCACAAATCTCATCCATTGGGTTCTTAGCAGGCTCTGGGTTGGGTGTGCCCCCACACTCGGAACTCACCAACCCAGCCAGCAACCTGGCAACTGTGGCAATCCTGCCTGTGTGTGCTGAGGTCCCCATGGTGGCCTTCACGCTGGAGCTGCAGCACGCCCTGCAGGCCATCGGTCAGTGGGGTGAGGGTCATGGGTGGGGGCTGGCGGTGGGTGGGACATTAGTGAGTGAGAGATGTTAGGGTAGGTCATTTGGGGGGTGGAGGGGAACAGGGCCACAGGGGCGGGGTAATGGGTATTCTTTTCTGAGTTAGGCCCCAGCCCTGTGGACCATGGTTCCCAGCCTCCCTTCCCCACCTACCCCTAGGTCCGACGCTACTCCTTAACAGTGACATCATCCGGGCACGCCTGGGGGCCTCCGCACTGGATAGGTGTGTGTTGCAGAAGGGAGTGGGGAGGGTGGTGGGTGGGCCTGGAGCCTCAAATTCTTTCAGACCTGAGTTCAAGTTCTTGGCTTCCAACCACGGAGCCTGCGTCTTACCCATAGGTCAATGGGGAGATTCGCAGTGGTGTGAATCTGCCCACCGGAGCACGGACTTCCGTGGTGGGGGTTTGGGTGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGAGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCACGTGCACCCTCGCCATGGGGGTAGGCGATCAGGGACCCAGGTGTGGCCAGGTGGTGGTGGGGCGGCTGGTGACCTCAGCCGTCCGTATTCCGCAGCTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAAGCTGGTGAGGAGCGGGCCGGCCCCCACCTTCTAGGGGCGTGGCTGGTGGGCGAGGCTTGGGAGACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCCCTGCTC
Task1_train_26380
This variant affects the gene PNPLA6 (patatin like domain 6, lysophospholipase) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Hereditary spastic paraplegia 39
GCACTGAGGAGGAAAGCGATCAAGGGGAGAGGTGATGGGGGTTGGGGGGTAAGTCACATAGGGGCTAGGGGCTGTGGACAGGCACTTGAGCTTATTTAGATTGTTATTGTTAGATTGGGGAGGAAGGATTCCACCAGTAAGGAGGCAACAAGAGGTCTAGGCAAGATATGGGAGTTGACAGCTGGTCTAGGCTGTTAGTGGAGAAACTGGGAAGCAACAGCTGGGTCAAAAGTAGCTTTTCTTTTCTTGTCTTTGTCTTTTCTTTTATTTTCTTTTTAAGACAGGGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTATGCCACCATGCCTGGCTAATTGTTGTGTATTTTTAGTAGAGCAGTGTTTCTCCATGTTGGCTAGGCTAAAAATAGCTTTATTTCTGCCTCGTTTTATGTTCAGGTCCCCCATTAGACAGAGGAACCAAGGCCAGAATGAGGCAGGGGCACTGGCCAATTGATCTCCCAAGCACAGTGAATCTGAATGGTTGTAGAGTTGTGTAATGGATCCCACTGAGGTGATCAGGGCCCAAAGTGGAGGGTAGATGGCCAGGTTTTAACAAAAGAGGGAATAGTAGTTGAGGCTGAGGGTCCAGGACCAGAGCCATGGCTTTCTGTATGGTAGAGTCAAGACTTTGGGCAACTGGGGGCTGCAGTCTGGGAGCACAGGAGCAAGAATTTCAGATAAGGAGGAAGAGGAAGAAGAGGAGGAGGAGGGTTCATCTCTCTGGACACAGGTTCGCACCACAAATCTCATCCATTGGGTTCTTAGCAGGCTCTGGGTTGGGTGTGCCCCCACACTCGGAACTCACCAACCCAGCCAGCAACCTGGCAACTGTGGCAATCCTGCCTGTGTGTGCTGAGGTCCCCATGGTGGCCTTCACGCTGGAGCTGCAGCACGCCCTGCAGGCCATCGGTCAGTGGGGTGAGGGTCATGGGTGGGGGCTGGCGGTGGGTGGGACATTAGTGAGTGAGAGATGTTAGGGTAGGTCATTTGGGGGGTGGAGGGGAACAGGGCCACAGGGGCGGGGTAATGGGTATTCTTTTCTGAGTTAGGCCCCAGCCCTGTGGACCATGGTTCCCAGCCTCCCTTCCCCACCTACCCCTAGGTCCGACGCTACTCCTTAACAGTGACATCATCCGGGCACGCCTGGGGGCCTCCGCACTGGATAGGTGTGTGTTGCAGAAGGGAGTGGGGAGGGTGGTGGGTGGGCCTGGAGCCTCAAATTCTTTCAGACCTGAGTTCAAGTTCTTGGCTTCCAACCACGGAGCCTGCGTCTTACCCATAGGTCAATGGGGAGATTCGCAGTGGTGTGAATCTGCCCACCGGAGCACGGACTTCCGTGGTGGGGGTTTGGGTGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCACGTGCACCCTCGCCATGGGGGTAGGCGATCAGGGACCCAGGTGTGGCCAGGTGGTGGTGGGGCGGCTGGTGACCTCAGCCGTCCGTATTCCGCAGCTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAAGCTGGTGAGGAGCGGGCCGGCCCCCACCTTCTAGGGGCGTGGCTGGTGGGCGAGGCTTGGGAGACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCCCTGCTCCTCCCCCACCTCGATCCCTGTCCCCGCAGGACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATGGTGGGTGTCCCCGCCCAGCCTGCAGCAACCGCTGACGCCACGTGGGGTTGGGGGGATGCTTCCGGGAGGGCCGCTGAGCTTCTGGGACGTTGTTAACACGAGTGACCGTCCACCCTGGCCCGATCACCGACCACTAACCGCCACCCACTAATGCCCCGGAGACCCCAGGTACGTCCGTCCTTGGGGGAGGGGAGCAGGGAGACTCGTCGGACGCCTTACCCCCCTCACGCCATCCCCGCAGGCTGTGTGTGGCGTTACGTCCGGGCCAGCGCCTCCTACTGCCCCTACCTGCCCCCACTGTGCGACCCCAAGGACGGGCACCTGCTGGTGGACGGGTGCTACGTTAACAACGTCCCAGGTCAGC
GCACTGAGGAGGAAAGCGATCAAGGGGAGAGGTGATGGGGGTTGGGGGGTAAGTCACATAGGGGCTAGGGGCTGTGGACAGGCACTTGAGCTTATTTAGATTGTTATTGTTAGATTGGGGAGGAAGGATTCCACCAGTAAGGAGGCAACAAGAGGTCTAGGCAAGATATGGGAGTTGACAGCTGGTCTAGGCTGTTAGTGGAGAAACTGGGAAGCAACAGCTGGGTCAAAAGTAGCTTTTCTTTTCTTGTCTTTGTCTTTTCTTTTATTTTCTTTTTAAGACAGGGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTATGCCACCATGCCTGGCTAATTGTTGTGTATTTTTAGTAGAGCAGTGTTTCTCCATGTTGGCTAGGCTAAAAATAGCTTTATTTCTGCCTCGTTTTATGTTCAGGTCCCCCATTAGACAGAGGAACCAAGGCCAGAATGAGGCAGGGGCACTGGCCAATTGATCTCCCAAGCACAGTGAATCTGAATGGTTGTAGAGTTGTGTAATGGATCCCACTGAGGTGATCAGGGCCCAAAGTGGAGGGTAGATGGCCAGGTTTTAACAAAAGAGGGAATAGTAGTTGAGGCTGAGGGTCCAGGACCAGAGCCATGGCTTTCTGTATGGTAGAGTCAAGACTTTGGGCAACTGGGGGCTGCAGTCTGGGAGCACAGGAGCAAGAATTTCAGATAAGGAGGAAGAGGAAGAAGAGGAGGAGGAGGGTTCATCTCTCTGGACACAGGTTCGCACCACAAATCTCATCCATTGGGTTCTTAGCAGGCTCTGGGTTGGGTGTGCCCCCACACTCGGAACTCACCAACCCAGCCAGCAACCTGGCAACTGTGGCAATCCTGCCTGTGTGTGCTGAGGTCCCCATGGTGGCCTTCACGCTGGAGCTGCAGCACGCCCTGCAGGCCATCGGTCAGTGGGGTGAGGGTCATGGGTGGGGGCTGGCGGTGGGTGGGACATTAGTGAGTGAGAGATGTTAGGGTAGGTCATTTGGGGGGTGGAGGGGAACAGGGCCACAGGGGCGGGGTAATGGGTATTCTTTTCTGAGTTAGGCCCCAGCCCTGTGGACCATGGTTCCCAGCCTCCCTTCCCCACCTACCCCTAGGTCCGACGCTACTCCTTAACAGTGACATCATCCGGGCACGCCTGGGGGCCTCCGCACTGGATAGGTGTGTGTTGCAGAAGGGAGTGGGGAGGGTGGTGGGTGGGCCTGGAGCCTCAAATTCTTTCAGACCTGAGTTCAAGTTCTTGGCTTCCAACCACGGAGCCTGCGTCTTACCCATAGGTCAATGGGGAGATTCGCAGTGGTGTGAATCTGCCCACCGGAGCACGGACTTCCGTGGTGGGGGTTTGGGTGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCACGTGCACCCTCGCCATGGGGGTAGGCGATCAGGGACCCAGGTGTGGCCAGGTGGTGGTGGGGCGGCTGGTGACCTCAGCCGTCCGTATTCCGCAGCTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCACCGCCTCTTTTCGCGCCGCAGCCCTGCCAAGCTGGTGAGGAGCGGGCCGGCCCCCACCTTCTAGGGGCGTGGCTGGTGGGCGAGGCTTGGGAGACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCCCTGCTCCTCCCCCACCTCGATCCCTGTCCCCGCAGGACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATGGTGGGTGTCCCCGCCCAGCCTGCAGCAACCGCTGACGCCACGTGGGGTTGGGGGGATGCTTCCGGGAGGGCCGCTGAGCTTCTGGGACGTTGTTAACACGAGTGACCGTCCACCCTGGCCCGATCACCGACCACTAACCGCCACCCACTAATGCCCCGGAGACCCCAGGTACGTCCGTCCTTGGGGGAGGGGAGCAGGGAGACTCGTCGGACGCCTTACCCCCCTCACGCCATCCCCGCAGGCTGTGTGTGGCGTTACGTCCGGGCCAGCGCCTCCTACTGCCCCTACCTGCCCCCACTGTGCGACCCCAAGGACGGGCACCTGCTGGTGGACGGGTGCTACGTTAACAACGTCCCAGGTCAGC
Task1_train_26381
The gene PNPLA6 (patatin like domain 6, lysophospholipase), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Hereditary spastic paraplegia 39
GAATCTGCCCACCGGAGCACGGACTTCCGTGGTGGGGGTTTGGGTGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCACGTGCACCCTCGCCATGGGGGTAGGCGATCAGGGACCCAGGTGTGGCCAGGTGGTGGTGGGGCGGCTGGTGACCTCAGCCGTCCGTATTCCGCAGCTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAAGCTGGTGAGGAGCGGGCCGGCCCCCACCTTCTAGGGGCGTGGCTGGTGGGCGAGGCTTGGGAGACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCCCTGCTCCTCCCCCACCTCGATCCCTGTCCCCGCAGGACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATGGTGGGTGTCCCCGCCCAGCCTGCAGCAACCGCTGACGCCACGTGGGGTTGGGGGGATGCTTCCGGGAGGGCCGCTGAGCTTCTGGGACGTTGTTAACACGAGTGACCGTCCACCCTGGCCCGATCACCGACCACTAACCGCCACCCACTAATGCCCCGGAGACCCCAGGTACGTCCGTCCTTGGGGGAGGGGAGCAGGGAGACTCGTCGGACGCCTTACCCCCCTCACGCCATCCCCGCAGGCTGTGTGTGGCGTTACGTCCGGGCCAGCGCCTCCTACTGCCCCTACCTGCCCCCACTGTGCGACCCCAAGGACGGGCACCTGCTGGTGGACGGGTGCTACGTTAACAACGTCCCAGGTCAGCGAGCCCATCGGGCCGGCTGGGCCTCCGGCGTGTCTGAGCGTGTCTGTGCGTGTTTGTGTCTGTGTGTCCCACCGCGCAGGCTCCCTGTGGCGGTACGTGCGCGCCAGCATGACGCTGTCGGGCTACCTGCCCCCGCTGTGCGACCCCAAGGACGGGCACCTACTCATGGATGGCGGCTACATCAACAATCTGCCAGGCAAGTGGCCGCCCGCACCACCCGCACACGCAAGCACCTCCCGCACCACACACACGCACACGCGTGGGCACACACAGACAGGCTCGATGACGGGACACATGCCCAAGCTGCCCATGCAGGGGTGCAGACACACATGCGCACACATACGATCACTTGCACAAAATGATACATGAATGTGCCTGTGGACAGCGACATGTGCAGTTGAGATCTACATTCTGGCCAGGCGCGGTGGCTCAGCCTGGAATCCCAGCACTTTGGGAGGCCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCCGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTGGTGGGGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGATAAATCACTTGAACCTGGGAGTTGGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATCTACATCTACCTGCTGGCGTGCTGTGTTAAGCACAAGTGGATGTACGTACAAGAGGGACAGGTGCACACGTCCACACACACATCAGGGGACATGCAGGTGGAATGCAACACTCGTGTGCACACCAGCTATATATGCACATGCTTTCTCTCAGGGGCAGGTAGGGCTTACACACACGTGTACACACAGGCACATGTGCACAGATGAACACGTGTGTCAGTGAAATAGGGCATTTGCCAACGCATGCCAGTCTGTCCCGTTTGTCCTGCACGTTCCCTCAAACACGCAGGGATGTGCACACACGTAGATAGGATGCGGCACCTCTGACCGAGTTAAGTCATGCCTACCACCTTTATGGGTGCAGGTGAGAAGCGGGCAGGTACACAACTTAAAATCTCACACCCCAGAAGTGTGCATATATGAACAGACATGTACGCCAACTGCACACATGCTCACAATCTTGTAGGCCAGGGGTGGGCAAACTATGGCCCACAGGCTGAGTCCTGCCCTCTGTTTGATTGTATAAATAAAGCTTTATTGAGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAATTCGAGGCCAGCCTGGCCAACATGGTGAAACCCGGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTATGCCTCT
GAATCTGCCCACCGGAGCACGGACTTCCGTGGTGGGGGTTTGGGTGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCACGTGCACCCTCGCCATGGGGGTAGGCGATCAGGGACCCAGGTGTGGCCAGGTGGTGGTGGGGCGGCTGGTGACCTCAGCCGTCCGTATTCCGCAGCTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAAGCTGGTGAGGAGCGGGCCGGCCCCCACCTTCTAGGGGCGTGGCTGGTGGGCGAGGCTTGGGAGACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTTGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCCCTGCTCCTCCCCCACCTCGATCCCTGTCCCCGCAGGACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATGGTGGGTGTCCCCGCCCAGCCTGCAGCAACCGCTGACGCCACGTGGGGTTGGGGGGATGCTTCCGGGAGGGCCGCTGAGCTTCTGGGACGTTGTTAACACGAGTGACCGTCCACCCTGGCCCGATCACCGACCACTAACCGCCACCCACTAATGCCCCGGAGACCCCAGGTACGTCCGTCCTTGGGGGAGGGGAGCAGGGAGACTCGTCGGACGCCTTACCCCCCTCACGCCATCCCCGCAGGCTGTGTGTGGCGTTACGTCCGGGCCAGCGCCTCCTACTGCCCCTACCTGCCCCCACTGTGCGACCCCAAGGACGGGCACCTGCTGGTGGACGGGTGCTACGTTAACAACGTCCCAGGTCAGCGAGCCCATCGGGCCGGCTGGGCCTCCGGCGTGTCTGAGCGTGTCTGTGCGTGTTTGTGTCTGTGTGTCCCACCGCGCAGGCTCCCTGTGGCGGTACGTGCGCGCCAGCATGACGCTGTCGGGCTACCTGCCCCCGCTGTGCGACCCCAAGGACGGGCACCTACTCATGGATGGCGGCTACATCAACAATCTGCCAGGCAAGTGGCCGCCCGCACCACCCGCACACGCAAGCACCTCCCGCACCACACACACGCACACGCGTGGGCACACACAGACAGGCTCGATGACGGGACACATGCCCAAGCTGCCCATGCAGGGGTGCAGACACACATGCGCACACATACGATCACTTGCACAAAATGATACATGAATGTGCCTGTGGACAGCGACATGTGCAGTTGAGATCTACATTCTGGCCAGGCGCGGTGGCTCAGCCTGGAATCCCAGCACTTTGGGAGGCCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCCGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTGGTGGGGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGATAAATCACTTGAACCTGGGAGTTGGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATCTACATCTACCTGCTGGCGTGCTGTGTTAAGCACAAGTGGATGTACGTACAAGAGGGACAGGTGCACACGTCCACACACACATCAGGGGACATGCAGGTGGAATGCAACACTCGTGTGCACACCAGCTATATATGCACATGCTTTCTCTCAGGGGCAGGTAGGGCTTACACACACGTGTACACACAGGCACATGTGCACAGATGAACACGTGTGTCAGTGAAATAGGGCATTTGCCAACGCATGCCAGTCTGTCCCGTTTGTCCTGCACGTTCCCTCAAACACGCAGGGATGTGCACACACGTAGATAGGATGCGGCACCTCTGACCGAGTTAAGTCATGCCTACCACCTTTATGGGTGCAGGTGAGAAGCGGGCAGGTACACAACTTAAAATCTCACACCCCAGAAGTGTGCATATATGAACAGACATGTACGCCAACTGCACACATGCTCACAATCTTGTAGGCCAGGGGTGGGCAAACTATGGCCCACAGGCTGAGTCCTGCCCTCTGTTTGATTGTATAAATAAAGCTTTATTGAGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAATTCGAGGCCAGCCTGGCCAACATGGTGAAACCCGGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTATGCCTCT
Task1_train_26382
This is a variant in PNPLA6 (patatin like domain 6, lysophospholipase), located on Chromosome 19. Is this mutation a likely cause of disease or not?
Pathogenic; Hereditary spastic paraplegia 39
TTGGGTGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCACGTGCACCCTCGCCATGGGGGTAGGCGATCAGGGACCCAGGTGTGGCCAGGTGGTGGTGGGGCGGCTGGTGACCTCAGCCGTCCGTATTCCGCAGCTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAAGCTGGTGAGGAGCGGGCCGGCCCCCACCTTCTAGGGGCGTGGCTGGTGGGCGAGGCTTGGGAGACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCCCTGCTCCTCCCCCACCTCGATCCCTGTCCCCGCAGGACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATGGTGGGTGTCCCCGCCCAGCCTGCAGCAACCGCTGACGCCACGTGGGGTTGGGGGGATGCTTCCGGGAGGGCCGCTGAGCTTCTGGGACGTTGTTAACACGAGTGACCGTCCACCCTGGCCCGATCACCGACCACTAACCGCCACCCACTAATGCCCCGGAGACCCCAGGTACGTCCGTCCTTGGGGGAGGGGAGCAGGGAGACTCGTCGGACGCCTTACCCCCCTCACGCCATCCCCGCAGGCTGTGTGTGGCGTTACGTCCGGGCCAGCGCCTCCTACTGCCCCTACCTGCCCCCACTGTGCGACCCCAAGGACGGGCACCTGCTGGTGGACGGGTGCTACGTTAACAACGTCCCAGGTCAGCGAGCCCATCGGGCCGGCTGGGCCTCCGGCGTGTCTGAGCGTGTCTGTGCGTGTTTGTGTCTGTGTGTCCCACCGCGCAGGCTCCCTGTGGCGGTACGTGCGCGCCAGCATGACGCTGTCGGGCTACCTGCCCCCGCTGTGCGACCCCAAGGACGGGCACCTACTCATGGATGGCGGCTACATCAACAATCTGCCAGGCAAGTGGCCGCCCGCACCACCCGCACACGCAAGCACCTCCCGCACCACACACACGCACACGCGTGGGCACACACAGACAGGCTCGATGACGGGACACATGCCCAAGCTGCCCATGCAGGGGTGCAGACACACATGCGCACACATACGATCACTTGCACAAAATGATACATGAATGTGCCTGTGGACAGCGACATGTGCAGTTGAGATCTACATTCTGGCCAGGCGCGGTGGCTCAGCCTGGAATCCCAGCACTTTGGGAGGCCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCCGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTGGTGGGGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGATAAATCACTTGAACCTGGGAGTTGGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATCTACATCTACCTGCTGGCGTGCTGTGTTAAGCACAAGTGGATGTACGTACAAGAGGGACAGGTGCACACGTCCACACACACATCAGGGGACATGCAGGTGGAATGCAACACTCGTGTGCACACCAGCTATATATGCACATGCTTTCTCTCAGGGGCAGGTAGGGCTTACACACACGTGTACACACAGGCACATGTGCACAGATGAACACGTGTGTCAGTGAAATAGGGCATTTGCCAACGCATGCCAGTCTGTCCCGTTTGTCCTGCACGTTCCCTCAAACACGCAGGGATGTGCACACACGTAGATAGGATGCGGCACCTCTGACCGAGTTAAGTCATGCCTACCACCTTTATGGGTGCAGGTGAGAAGCGGGCAGGTACACAACTTAAAATCTCACACCCCAGAAGTGTGCATATATGAACAGACATGTACGCCAACTGCACACATGCTCACAATCTTGTAGGCCAGGGGTGGGCAAACTATGGCCCACAGGCTGAGTCCTGCCCTCTGTTTGATTGTATAAATAAAGCTTTATTGAGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAATTCGAGGCCAGCCTGGCCAACATGGTGAAACCCGGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTATGCCTCTAATCCCAGCTACTTGAGAGGCTGAGGCAAGAGAGTTGCT
TTGGGTGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCACGTGCACCCTCGCCATGGGGGTAGGCGATCAGGGACCCAGGTGTGGCCAGGTGGTGGTGGGGCGGCTGGTGACCTCAGCCGTCCGTATTCCGCAGCTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAAGCTGGTGAGGAGCGGGCCGGCCCCCACCTTCTAGGGGCGTGGCTGGTGGGCGAGGCTTGGGAGACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCATCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCCCTGCTCCTCCCCCACCTCGATCCCTGTCCCCGCAGGACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATGGTGGGTGTCCCCGCCCAGCCTGCAGCAACCGCTGACGCCACGTGGGGTTGGGGGGATGCTTCCGGGAGGGCCGCTGAGCTTCTGGGACGTTGTTAACACGAGTGACCGTCCACCCTGGCCCGATCACCGACCACTAACCGCCACCCACTAATGCCCCGGAGACCCCAGGTACGTCCGTCCTTGGGGGAGGGGAGCAGGGAGACTCGTCGGACGCCTTACCCCCCTCACGCCATCCCCGCAGGCTGTGTGTGGCGTTACGTCCGGGCCAGCGCCTCCTACTGCCCCTACCTGCCCCCACTGTGCGACCCCAAGGACGGGCACCTGCTGGTGGACGGGTGCTACGTTAACAACGTCCCAGGTCAGCGAGCCCATCGGGCCGGCTGGGCCTCCGGCGTGTCTGAGCGTGTCTGTGCGTGTTTGTGTCTGTGTGTCCCACCGCGCAGGCTCCCTGTGGCGGTACGTGCGCGCCAGCATGACGCTGTCGGGCTACCTGCCCCCGCTGTGCGACCCCAAGGACGGGCACCTACTCATGGATGGCGGCTACATCAACAATCTGCCAGGCAAGTGGCCGCCCGCACCACCCGCACACGCAAGCACCTCCCGCACCACACACACGCACACGCGTGGGCACACACAGACAGGCTCGATGACGGGACACATGCCCAAGCTGCCCATGCAGGGGTGCAGACACACATGCGCACACATACGATCACTTGCACAAAATGATACATGAATGTGCCTGTGGACAGCGACATGTGCAGTTGAGATCTACATTCTGGCCAGGCGCGGTGGCTCAGCCTGGAATCCCAGCACTTTGGGAGGCCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCCGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTGGTGGGGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGATAAATCACTTGAACCTGGGAGTTGGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATCTACATCTACCTGCTGGCGTGCTGTGTTAAGCACAAGTGGATGTACGTACAAGAGGGACAGGTGCACACGTCCACACACACATCAGGGGACATGCAGGTGGAATGCAACACTCGTGTGCACACCAGCTATATATGCACATGCTTTCTCTCAGGGGCAGGTAGGGCTTACACACACGTGTACACACAGGCACATGTGCACAGATGAACACGTGTGTCAGTGAAATAGGGCATTTGCCAACGCATGCCAGTCTGTCCCGTTTGTCCTGCACGTTCCCTCAAACACGCAGGGATGTGCACACACGTAGATAGGATGCGGCACCTCTGACCGAGTTAAGTCATGCCTACCACCTTTATGGGTGCAGGTGAGAAGCGGGCAGGTACACAACTTAAAATCTCACACCCCAGAAGTGTGCATATATGAACAGACATGTACGCCAACTGCACACATGCTCACAATCTTGTAGGCCAGGGGTGGGCAAACTATGGCCCACAGGCTGAGTCCTGCCCTCTGTTTGATTGTATAAATAAAGCTTTATTGAGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAATTCGAGGCCAGCCTGGCCAACATGGTGAAACCCGGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTATGCCTCTAATCCCAGCTACTTGAGAGGCTGAGGCAAGAGAGTTGCT
Task1_train_26383
This gene mutation involves PNPLA6 (patatin like domain 6, lysophospholipase) on Chromosome 19. Is it associated with any clinical condition, or is it benign?
Pathogenic; Hereditary spastic paraplegia 39
TGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCACGTGCACCCTCGCCATGGGGGTAGGCGATCAGGGACCCAGGTGTGGCCAGGTGGTGGTGGGGCGGCTGGTGACCTCAGCCGTCCGTATTCCGCAGCTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAAGCTGGTGAGGAGCGGGCCGGCCCCCACCTTCTAGGGGCGTGGCTGGTGGGCGAGGCTTGGGAGACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCCCTGCTCCTCCCCCACCTCGATCCCTGTCCCCGCAGGACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATGGTGGGTGTCCCCGCCCAGCCTGCAGCAACCGCTGACGCCACGTGGGGTTGGGGGGATGCTTCCGGGAGGGCCGCTGAGCTTCTGGGACGTTGTTAACACGAGTGACCGTCCACCCTGGCCCGATCACCGACCACTAACCGCCACCCACTAATGCCCCGGAGACCCCAGGTACGTCCGTCCTTGGGGGAGGGGAGCAGGGAGACTCGTCGGACGCCTTACCCCCCTCACGCCATCCCCGCAGGCTGTGTGTGGCGTTACGTCCGGGCCAGCGCCTCCTACTGCCCCTACCTGCCCCCACTGTGCGACCCCAAGGACGGGCACCTGCTGGTGGACGGGTGCTACGTTAACAACGTCCCAGGTCAGCGAGCCCATCGGGCCGGCTGGGCCTCCGGCGTGTCTGAGCGTGTCTGTGCGTGTTTGTGTCTGTGTGTCCCACCGCGCAGGCTCCCTGTGGCGGTACGTGCGCGCCAGCATGACGCTGTCGGGCTACCTGCCCCCGCTGTGCGACCCCAAGGACGGGCACCTACTCATGGATGGCGGCTACATCAACAATCTGCCAGGCAAGTGGCCGCCCGCACCACCCGCACACGCAAGCACCTCCCGCACCACACACACGCACACGCGTGGGCACACACAGACAGGCTCGATGACGGGACACATGCCCAAGCTGCCCATGCAGGGGTGCAGACACACATGCGCACACATACGATCACTTGCACAAAATGATACATGAATGTGCCTGTGGACAGCGACATGTGCAGTTGAGATCTACATTCTGGCCAGGCGCGGTGGCTCAGCCTGGAATCCCAGCACTTTGGGAGGCCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCCGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTGGTGGGGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGATAAATCACTTGAACCTGGGAGTTGGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATCTACATCTACCTGCTGGCGTGCTGTGTTAAGCACAAGTGGATGTACGTACAAGAGGGACAGGTGCACACGTCCACACACACATCAGGGGACATGCAGGTGGAATGCAACACTCGTGTGCACACCAGCTATATATGCACATGCTTTCTCTCAGGGGCAGGTAGGGCTTACACACACGTGTACACACAGGCACATGTGCACAGATGAACACGTGTGTCAGTGAAATAGGGCATTTGCCAACGCATGCCAGTCTGTCCCGTTTGTCCTGCACGTTCCCTCAAACACGCAGGGATGTGCACACACGTAGATAGGATGCGGCACCTCTGACCGAGTTAAGTCATGCCTACCACCTTTATGGGTGCAGGTGAGAAGCGGGCAGGTACACAACTTAAAATCTCACACCCCAGAAGTGTGCATATATGAACAGACATGTACGCCAACTGCACACATGCTCACAATCTTGTAGGCCAGGGGTGGGCAAACTATGGCCCACAGGCTGAGTCCTGCCCTCTGTTTGATTGTATAAATAAAGCTTTATTGAGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAATTCGAGGCCAGCCTGGCCAACATGGTGAAACCCGGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTATGCCTCTAATCCCAGCTACTTGAGAGGCTGAGGCAAGAGAGTTGCTTGAAC
TGTCTAAGTTCCTCCCAGCAACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCACGTGCACCCTCGCCATGGGGGTAGGCGATCAGGGACCCAGGTGTGGCCAGGTGGTGGTGGGGCGGCTGGTGACCTCAGCCGTCCGTATTCCGCAGCTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAAGCTGGTGAGGAGCGGGCCGGCCCCCACCTTCTAGGGGCGTGGCTGGTGGGCGAGGCTTGGGAGACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCGTGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCCCTGCTCCTCCCCCACCTCGATCCCTGTCCCCGCAGGACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATGGTGGGTGTCCCCGCCCAGCCTGCAGCAACCGCTGACGCCACGTGGGGTTGGGGGGATGCTTCCGGGAGGGCCGCTGAGCTTCTGGGACGTTGTTAACACGAGTGACCGTCCACCCTGGCCCGATCACCGACCACTAACCGCCACCCACTAATGCCCCGGAGACCCCAGGTACGTCCGTCCTTGGGGGAGGGGAGCAGGGAGACTCGTCGGACGCCTTACCCCCCTCACGCCATCCCCGCAGGCTGTGTGTGGCGTTACGTCCGGGCCAGCGCCTCCTACTGCCCCTACCTGCCCCCACTGTGCGACCCCAAGGACGGGCACCTGCTGGTGGACGGGTGCTACGTTAACAACGTCCCAGGTCAGCGAGCCCATCGGGCCGGCTGGGCCTCCGGCGTGTCTGAGCGTGTCTGTGCGTGTTTGTGTCTGTGTGTCCCACCGCGCAGGCTCCCTGTGGCGGTACGTGCGCGCCAGCATGACGCTGTCGGGCTACCTGCCCCCGCTGTGCGACCCCAAGGACGGGCACCTACTCATGGATGGCGGCTACATCAACAATCTGCCAGGCAAGTGGCCGCCCGCACCACCCGCACACGCAAGCACCTCCCGCACCACACACACGCACACGCGTGGGCACACACAGACAGGCTCGATGACGGGACACATGCCCAAGCTGCCCATGCAGGGGTGCAGACACACATGCGCACACATACGATCACTTGCACAAAATGATACATGAATGTGCCTGTGGACAGCGACATGTGCAGTTGAGATCTACATTCTGGCCAGGCGCGGTGGCTCAGCCTGGAATCCCAGCACTTTGGGAGGCCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCCGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTGGTGGGGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGATAAATCACTTGAACCTGGGAGTTGGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATCTACATCTACCTGCTGGCGTGCTGTGTTAAGCACAAGTGGATGTACGTACAAGAGGGACAGGTGCACACGTCCACACACACATCAGGGGACATGCAGGTGGAATGCAACACTCGTGTGCACACCAGCTATATATGCACATGCTTTCTCTCAGGGGCAGGTAGGGCTTACACACACGTGTACACACAGGCACATGTGCACAGATGAACACGTGTGTCAGTGAAATAGGGCATTTGCCAACGCATGCCAGTCTGTCCCGTTTGTCCTGCACGTTCCCTCAAACACGCAGGGATGTGCACACACGTAGATAGGATGCGGCACCTCTGACCGAGTTAAGTCATGCCTACCACCTTTATGGGTGCAGGTGAGAAGCGGGCAGGTACACAACTTAAAATCTCACACCCCAGAAGTGTGCATATATGAACAGACATGTACGCCAACTGCACACATGCTCACAATCTTGTAGGCCAGGGGTGGGCAAACTATGGCCCACAGGCTGAGTCCTGCCCTCTGTTTGATTGTATAAATAAAGCTTTATTGAGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAATTCGAGGCCAGCCTGGCCAACATGGTGAAACCCGGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTATGCCTCTAATCCCAGCTACTTGAGAGGCTGAGGCAAGAGAGTTGCTTGAAC
Task1_train_26384
This gene mutation involves PNPLA6 (patatin like domain 6, lysophospholipase) on Chromosome 19. Is it associated with any clinical condition, or is it benign?
Pathogenic; Ataxia-hypogonadism-choroidal dystrophy syndrome
AACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCACGTGCACCCTCGCCATGGGGGTAGGCGATCAGGGACCCAGGTGTGGCCAGGTGGTGGTGGGGCGGCTGGTGACCTCAGCCGTCCGTATTCCGCAGCTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAAGCTGGTGAGGAGCGGGCCGGCCCCCACCTTCTAGGGGCGTGGCTGGTGGGCGAGGCTTGGGAGACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCCCTGCTCCTCCCCCACCTCGATCCCTGTCCCCGCAGGACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATGGTGGGTGTCCCCGCCCAGCCTGCAGCAACCGCTGACGCCACGTGGGGTTGGGGGGATGCTTCCGGGAGGGCCGCTGAGCTTCTGGGACGTTGTTAACACGAGTGACCGTCCACCCTGGCCCGATCACCGACCACTAACCGCCACCCACTAATGCCCCGGAGACCCCAGGTACGTCCGTCCTTGGGGGAGGGGAGCAGGGAGACTCGTCGGACGCCTTACCCCCCTCACGCCATCCCCGCAGGCTGTGTGTGGCGTTACGTCCGGGCCAGCGCCTCCTACTGCCCCTACCTGCCCCCACTGTGCGACCCCAAGGACGGGCACCTGCTGGTGGACGGGTGCTACGTTAACAACGTCCCAGGTCAGCGAGCCCATCGGGCCGGCTGGGCCTCCGGCGTGTCTGAGCGTGTCTGTGCGTGTTTGTGTCTGTGTGTCCCACCGCGCAGGCTCCCTGTGGCGGTACGTGCGCGCCAGCATGACGCTGTCGGGCTACCTGCCCCCGCTGTGCGACCCCAAGGACGGGCACCTACTCATGGATGGCGGCTACATCAACAATCTGCCAGGCAAGTGGCCGCCCGCACCACCCGCACACGCAAGCACCTCCCGCACCACACACACGCACACGCGTGGGCACACACAGACAGGCTCGATGACGGGACACATGCCCAAGCTGCCCATGCAGGGGTGCAGACACACATGCGCACACATACGATCACTTGCACAAAATGATACATGAATGTGCCTGTGGACAGCGACATGTGCAGTTGAGATCTACATTCTGGCCAGGCGCGGTGGCTCAGCCTGGAATCCCAGCACTTTGGGAGGCCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCCGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTGGTGGGGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGATAAATCACTTGAACCTGGGAGTTGGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATCTACATCTACCTGCTGGCGTGCTGTGTTAAGCACAAGTGGATGTACGTACAAGAGGGACAGGTGCACACGTCCACACACACATCAGGGGACATGCAGGTGGAATGCAACACTCGTGTGCACACCAGCTATATATGCACATGCTTTCTCTCAGGGGCAGGTAGGGCTTACACACACGTGTACACACAGGCACATGTGCACAGATGAACACGTGTGTCAGTGAAATAGGGCATTTGCCAACGCATGCCAGTCTGTCCCGTTTGTCCTGCACGTTCCCTCAAACACGCAGGGATGTGCACACACGTAGATAGGATGCGGCACCTCTGACCGAGTTAAGTCATGCCTACCACCTTTATGGGTGCAGGTGAGAAGCGGGCAGGTACACAACTTAAAATCTCACACCCCAGAAGTGTGCATATATGAACAGACATGTACGCCAACTGCACACATGCTCACAATCTTGTAGGCCAGGGGTGGGCAAACTATGGCCCACAGGCTGAGTCCTGCCCTCTGTTTGATTGTATAAATAAAGCTTTATTGAGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAATTCGAGGCCAGCCTGGCCAACATGGTGAAACCCGGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTATGCCTCTAATCCCAGCTACTTGAGAGGCTGAGGCAAGAGAGTTGCTTGAACCCGGGAGGTGGAGGTTGCA
AACGGAGCTATGTGGTCTCGGGGAGCACACTGACCCCAGGCCAACCCCAGGATGACGCTGCCCCCTTCCCACCCTAGCATCCAAGAGTTCCGGCTGTCAGGGTGGCTGGCCCAGCAGGAGGATGCACACCGTATCGTACTCTACCAGACGGACGCCTCGCTGACGCCCTGGACCGTGCGCTGCCTGCGACAGGCCGACTGCATCCTCATTGTGGGCCTGGGGGACCAGGAGCCTACCCTCGGCCAGGTCGGAAGCCCGTGCCCCCTGATCTCACCCACCTCGGGTCCCGTCCTTTGCCCTCCCGTGCCTGCACCAGGCCACGTGCACCCTCGCCATGGGGGTAGGCGATCAGGGACCCAGGTGTGGCCAGGTGGTGGTGGGGCGGCTGGTGACCTCAGCCGTCCGTATTCCGCAGCTGGAGCAGATGCTGGAGAACACGGCTGTGCGCGCCCTTAAGCAGCTAGTCCTGCTCCACCGAGAGGAGGGCGCGGGCCCCACGCGCACCGTGGAGTGGCTAAATATGCGCAGCTGGTGCTCGGGGCACCTGCACCTGCGCTGTCCGCGCCGCCTCTTTTCGCGCCGCAGCCCTGCCAAGCTGGTGAGGAGCGGGCCGGCCCCCACCTTCTAGGGGCGTGGCTGGTGGGCGAGGCTTGGGAGACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTCTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCCCTGCTCCTCCCCCACCTCGATCCCTGTCCCCGCAGGACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATGGTGGGTGTCCCCGCCCAGCCTGCAGCAACCGCTGACGCCACGTGGGGTTGGGGGGATGCTTCCGGGAGGGCCGCTGAGCTTCTGGGACGTTGTTAACACGAGTGACCGTCCACCCTGGCCCGATCACCGACCACTAACCGCCACCCACTAATGCCCCGGAGACCCCAGGTACGTCCGTCCTTGGGGGAGGGGAGCAGGGAGACTCGTCGGACGCCTTACCCCCCTCACGCCATCCCCGCAGGCTGTGTGTGGCGTTACGTCCGGGCCAGCGCCTCCTACTGCCCCTACCTGCCCCCACTGTGCGACCCCAAGGACGGGCACCTGCTGGTGGACGGGTGCTACGTTAACAACGTCCCAGGTCAGCGAGCCCATCGGGCCGGCTGGGCCTCCGGCGTGTCTGAGCGTGTCTGTGCGTGTTTGTGTCTGTGTGTCCCACCGCGCAGGCTCCCTGTGGCGGTACGTGCGCGCCAGCATGACGCTGTCGGGCTACCTGCCCCCGCTGTGCGACCCCAAGGACGGGCACCTACTCATGGATGGCGGCTACATCAACAATCTGCCAGGCAAGTGGCCGCCCGCACCACCCGCACACGCAAGCACCTCCCGCACCACACACACGCACACGCGTGGGCACACACAGACAGGCTCGATGACGGGACACATGCCCAAGCTGCCCATGCAGGGGTGCAGACACACATGCGCACACATACGATCACTTGCACAAAATGATACATGAATGTGCCTGTGGACAGCGACATGTGCAGTTGAGATCTACATTCTGGCCAGGCGCGGTGGCTCAGCCTGGAATCCCAGCACTTTGGGAGGCCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCCGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTGGTGGGGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGATAAATCACTTGAACCTGGGAGTTGGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATCTACATCTACCTGCTGGCGTGCTGTGTTAAGCACAAGTGGATGTACGTACAAGAGGGACAGGTGCACACGTCCACACACACATCAGGGGACATGCAGGTGGAATGCAACACTCGTGTGCACACCAGCTATATATGCACATGCTTTCTCTCAGGGGCAGGTAGGGCTTACACACACGTGTACACACAGGCACATGTGCACAGATGAACACGTGTGTCAGTGAAATAGGGCATTTGCCAACGCATGCCAGTCTGTCCCGTTTGTCCTGCACGTTCCCTCAAACACGCAGGGATGTGCACACACGTAGATAGGATGCGGCACCTCTGACCGAGTTAAGTCATGCCTACCACCTTTATGGGTGCAGGTGAGAAGCGGGCAGGTACACAACTTAAAATCTCACACCCCAGAAGTGTGCATATATGAACAGACATGTACGCCAACTGCACACATGCTCACAATCTTGTAGGCCAGGGGTGGGCAAACTATGGCCCACAGGCTGAGTCCTGCCCTCTGTTTGATTGTATAAATAAAGCTTTATTGAGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAATTCGAGGCCAGCCTGGCCAACATGGTGAAACCCGGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTATGCCTCTAATCCCAGCTACTTGAGAGGCTGAGGCAAGAGAGTTGCTTGAACCCGGGAGGTGGAGGTTGCA
Task1_train_26385
Here is a variant affecting PNPLA6 (patatin like domain 6, lysophospholipase) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Hereditary spastic paraplegia 39
ACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCCCTGCTCCTCCCCCACCTCGATCCCTGTCCCCGCAGGACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATGGTGGGTGTCCCCGCCCAGCCTGCAGCAACCGCTGACGCCACGTGGGGTTGGGGGGATGCTTCCGGGAGGGCCGCTGAGCTTCTGGGACGTTGTTAACACGAGTGACCGTCCACCCTGGCCCGATCACCGACCACTAACCGCCACCCACTAATGCCCCGGAGACCCCAGGTACGTCCGTCCTTGGGGGAGGGGAGCAGGGAGACTCGTCGGACGCCTTACCCCCCTCACGCCATCCCCGCAGGCTGTGTGTGGCGTTACGTCCGGGCCAGCGCCTCCTACTGCCCCTACCTGCCCCCACTGTGCGACCCCAAGGACGGGCACCTGCTGGTGGACGGGTGCTACGTTAACAACGTCCCAGGTCAGCGAGCCCATCGGGCCGGCTGGGCCTCCGGCGTGTCTGAGCGTGTCTGTGCGTGTTTGTGTCTGTGTGTCCCACCGCGCAGGCTCCCTGTGGCGGTACGTGCGCGCCAGCATGACGCTGTCGGGCTACCTGCCCCCGCTGTGCGACCCCAAGGACGGGCACCTACTCATGGATGGCGGCTACATCAACAATCTGCCAGGCAAGTGGCCGCCCGCACCACCCGCACACGCAAGCACCTCCCGCACCACACACACGCACACGCGTGGGCACACACAGACAGGCTCGATGACGGGACACATGCCCAAGCTGCCCATGCAGGGGTGCAGACACACATGCGCACACATACGATCACTTGCACAAAATGATACATGAATGTGCCTGTGGACAGCGACATGTGCAGTTGAGATCTACATTCTGGCCAGGCGCGGTGGCTCAGCCTGGAATCCCAGCACTTTGGGAGGCCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCCGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTGGTGGGGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGATAAATCACTTGAACCTGGGAGTTGGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATCTACATCTACCTGCTGGCGTGCTGTGTTAAGCACAAGTGGATGTACGTACAAGAGGGACAGGTGCACACGTCCACACACACATCAGGGGACATGCAGGTGGAATGCAACACTCGTGTGCACACCAGCTATATATGCACATGCTTTCTCTCAGGGGCAGGTAGGGCTTACACACACGTGTACACACAGGCACATGTGCACAGATGAACACGTGTGTCAGTGAAATAGGGCATTTGCCAACGCATGCCAGTCTGTCCCGTTTGTCCTGCACGTTCCCTCAAACACGCAGGGATGTGCACACACGTAGATAGGATGCGGCACCTCTGACCGAGTTAAGTCATGCCTACCACCTTTATGGGTGCAGGTGAGAAGCGGGCAGGTACACAACTTAAAATCTCACACCCCAGAAGTGTGCATATATGAACAGACATGTACGCCAACTGCACACATGCTCACAATCTTGTAGGCCAGGGGTGGGCAAACTATGGCCCACAGGCTGAGTCCTGCCCTCTGTTTGATTGTATAAATAAAGCTTTATTGAGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAATTCGAGGCCAGCCTGGCCAACATGGTGAAACCCGGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTATGCCTCTAATCCCAGCTACTTGAGAGGCTGAGGCAAGAGAGTTGCTTGAACCCGGGAGGTGGAGGTTGCATCGAGCCCAGATCGTGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAGAAAATAAAACAAAACCTCCCAACACCTGACCCCCCTCCTCAACTTCAGTTGCATCATTTGCACGTCTGTGCATGACAGCATGGTGTTTGCATGTGTGGGTATTCTCTCTTTTTTTTTTGCGTGATCATTTGCATGATGGCATCTGTGGGACTGGGTTGAACATCTCTGCCCCGGGCCCCCGAGGGGAGCAGCCCGCTGACCCCCCTGGCCCCACAGCGGACATCGCCCGCAGCATGGGTGCCAAAACGGTCATCGCCATTGACGTGGGGAGCCAGGATGAGACGGACCTCAGCACCTACGGGGACAGCCTGTCCGGCTGGTGGCTGCTGTGGAAGCGGCTGAATCCCTGGGCTGACAAGGTAAAGGTTCCAGACATGGCTGAAATCCAGTCCCGCCTGGCCTACGTGTCCTGTGTGCGGCAGCTAGAGGTTGTCAAGTCCAGCTCCTACTGCGAGTACCTGCGCCCGCCCATCGACTGCTTCAAGACCATGGACTTTGGGAAGTTCGACCAGATCTATGTGAGTGGGCAGGAGTGGCATGGTGCCTGCATAGGTGGTCCGGCTAAGCTTTGCTACTTAAAGCCCAGAGTGGTATGAG
ACTGGGGCGGGGCCTGGGAGGGCTGAGGACAGGCTCGAAGGTCAGGGTACCCCTGGGGGATCCGCCGGACCCCGCCCTCATGCTCCTGGGTCGCGACTATCTCCCCCATCCCAGCATGAGCTCTACGAGAAGGTTTTCTCCAGGCGCGCGGACCGGCACAGCGACTTCTCCCGCTTGGCGAGGGTGCTCACGGGGAACACCATTGCCCTTGTGCTAGGCGGGGGCGGGGCCAGGTGAGGGCGGGGCTTGCTCTCTGGGGGCGGGGCCTGGATGTCCGAGGGTGGAGCTTCCTGGGAGAAACCGTGGGGGCGGGGCCTGGGTGTTCGAGGGTGGAGCTTCCCCTCCGGGAGAGACCCCGTGGGTAGGGGCGGGTCCTTTGTTCCTTAGCAGTGCGGGAGGTGGGAGGAGGTAGGGGCAGGGGAGTTCCTGCAGGTGGGGCCTAGCGGGTCACTGGGGCCCATTTTCCCGGCAGGGGCTGCTCGCACATCGGAGTACTAAAGGCATTAGAGGAGGCGGGGGTCCCCGTGGACCTGGTGGGCGGCACGTCCATTGGCTCTTTCATCGGAGCGTTGTACGCGGAGGAGCGCAGCGCCAGCCGCACGAAGCAGCGGGCCCGGGAGTGGGCCAAGGTGTGTGTTGCGAGGAGGGATTGCTGCACCCCAGGAGTGCCATAAAACCCGTGGTTCCAACCTAACCTGATCCCATGGGGGAGCCTCCGGGGTCAGGGTGACCCTTCCTGATTAAATCTATGATCCCCAGCTGTCCGGACTTTTATAGATAAGCTTCTAGGACTCTGGGTAACCACTTTGGGACCTCCTGTCTACTGACCCTAACCCATAACCCCCAACGAGAGCACCCAGGGCCCTTGGTGACCACCTTGTGGATGGCCTTGGATGACCACATCATCCCTAAGTGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTATCCGCCTCAGCCTCATGAGTAGCTGGGATTACAGGCACGCCCCACCAGCCCGGCAAATTTTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGCTTTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCAAAGTGCTGGGATTACCAGTGTGAGCCGCTGCACCTGGCCCCTAAGTGCTGCTTGCTCACCCCCTATTGATGAACCTTATCTGTGACCCCATGTAACTCCTATTTGACCCTGTCTGGCCCCTTGTCCCTAGAGCATGACTTCGGTGCTGGAACCTGTGTTGGACCTCACGTACCCAGTCACCTCCATGTTCACTGGGTCTGCCTTTAACCGCAGCATCCATCGGGTCTTCCAGGATAAGCAGATTGAGGTAGGCCCACCTCATCCCCTGCCCTGCCTACCCCTCCCCGGAGGAGCCCCCTGCTCCTCCCCCACCTCGATCCCTGTCCCCGCAGGACCTGTGGCTGCCTTACTTCAACGTGACCACAGATATCACCGCCTCAGCCATGCGAGTCCACAAAGATGGTGGGTGTCCCCGCCCAGCCTGCAGCAACCGCTGACGCCACGTGGGGTTGGGGGGATGCTTCCGGGAGGGCCGCTGAGCTTCTGGGACGTTGTTAACACGAGTGACCGTCCACCCTGGCCCGATCACCGACCACTAACCGCCACCCACTAATGCCCCGGAGACCCCAGGTACGTCCGTCCTTGGGGGAGGGGAGCAGGGAGACTCGTCGGACGCCTTACCCCCCTCACGCCATCCCCGCAGGCTGTGTGTGGCGTTACGTCCGGGCCAGCGCCTCCTACTGCCCCTACCTGCCCCCACTGTGCGACCCCAAGGACGGGCACCTGCTGGTGGACGGGTGCTACGTTAACAACGTCCCAGGTCAGCGAGCCCATCGGGCCGGCTGGGCCTCCGGCGTGTCTGAGCGTGTCTGTGCGTGTTTGTGTCTGTGTGTCCCACCGCGCAGGCTCCCTGTGGCGGTGCGTGCGCGCCAGCATGACGCTGTCGGGCTACCTGCCCCCGCTGTGCGACCCCAAGGACGGGCACCTACTCATGGATGGCGGCTACATCAACAATCTGCCAGGCAAGTGGCCGCCCGCACCACCCGCACACGCAAGCACCTCCCGCACCACACACACGCACACGCGTGGGCACACACAGACAGGCTCGATGACGGGACACATGCCCAAGCTGCCCATGCAGGGGTGCAGACACACATGCGCACACATACGATCACTTGCACAAAATGATACATGAATGTGCCTGTGGACAGCGACATGTGCAGTTGAGATCTACATTCTGGCCAGGCGCGGTGGCTCAGCCTGGAATCCCAGCACTTTGGGAGGCCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCCGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACCAGGCTGGTGGGGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGATAAATCACTTGAACCTGGGAGTTGGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATCTACATCTACCTGCTGGCGTGCTGTGTTAAGCACAAGTGGATGTACGTACAAGAGGGACAGGTGCACACGTCCACACACACATCAGGGGACATGCAGGTGGAATGCAACACTCGTGTGCACACCAGCTATATATGCACATGCTTTCTCTCAGGGGCAGGTAGGGCTTACACACACGTGTACACACAGGCACATGTGCACAGATGAACACGTGTGTCAGTGAAATAGGGCATTTGCCAACGCATGCCAGTCTGTCCCGTTTGTCCTGCACGTTCCCTCAAACACGCAGGGATGTGCACACACGTAGATAGGATGCGGCACCTCTGACCGAGTTAAGTCATGCCTACCACCTTTATGGGTGCAGGTGAGAAGCGGGCAGGTACACAACTTAAAATCTCACACCCCAGAAGTGTGCATATATGAACAGACATGTACGCCAACTGCACACATGCTCACAATCTTGTAGGCCAGGGGTGGGCAAACTATGGCCCACAGGCTGAGTCCTGCCCTCTGTTTGATTGTATAAATAAAGCTTTATTGAGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAATTCGAGGCCAGCCTGGCCAACATGGTGAAACCCGGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTATGCCTCTAATCCCAGCTACTTGAGAGGCTGAGGCAAGAGAGTTGCTTGAACCCGGGAGGTGGAGGTTGCATCGAGCCCAGATCGTGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAGAAAATAAAACAAAACCTCCCAACACCTGACCCCCCTCCTCAACTTCAGTTGCATCATTTGCACGTCTGTGCATGACAGCATGGTGTTTGCATGTGTGGGTATTCTCTCTTTTTTTTTTGCGTGATCATTTGCATGATGGCATCTGTGGGACTGGGTTGAACATCTCTGCCCCGGGCCCCCGAGGGGAGCAGCCCGCTGACCCCCCTGGCCCCACAGCGGACATCGCCCGCAGCATGGGTGCCAAAACGGTCATCGCCATTGACGTGGGGAGCCAGGATGAGACGGACCTCAGCACCTACGGGGACAGCCTGTCCGGCTGGTGGCTGCTGTGGAAGCGGCTGAATCCCTGGGCTGACAAGGTAAAGGTTCCAGACATGGCTGAAATCCAGTCCCGCCTGGCCTACGTGTCCTGTGTGCGGCAGCTAGAGGTTGTCAAGTCCAGCTCCTACTGCGAGTACCTGCGCCCGCCCATCGACTGCTTCAAGACCATGGACTTTGGGAAGTTCGACCAGATCTATGTGAGTGGGCAGGAGTGGCATGGTGCCTGCATAGGTGGTCCGGCTAAGCTTTGCTACTTAAAGCCCAGAGTGGTATGAG
Task1_train_26386
Chromosome 19 houses a mutation in gene PET100, STXBP2 (PET100 cytochrome c oxidase chaperone| syntaxin binding protein 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 12
TCGGTCACACAGCGATGCTTCACCTGTGCCCGACGCGCCTTCAGGTATCGGTACCAGAGTTTGTAGCTGGGGAATAGGAGGGGACAGATGCTGATCGGTCAGCTTTATGGACACCCCCAGAACCATTTGCCCTGCCCCAGTTGGCAAATGTGGGAAGAAGGGGTGTGGGAGGGGTGACATGTCTCAGCAATGACAGGGACAGACTGGGACATCAGAGAAGGTGTGCTGACCCATCAAGGGATGTACAGGTCAGTGATGAAACACGAAGCAATCACCCGGGACCCGGGACCCACTTGGCAGTTTTGTTATAACTGGACCAGGTGGGGTGGGGGCTGGTGGGCAGGGCAGCTGGAGCCATTCCCACCTGCAGGGCAGCAGCTTGAGTGCCCGCTCGTATAGCTGATTGAGCCTGGGCTTCGGGGCGCCCTGTTTGAACTCGATGTAGCGAAGCCAGCATTTGACAGAGAATTGGTTCCGCATGATTTCCTCCTCATAGGGGAGGTCCTCTTCCTCCTGCCAGGGCCAGGGAATGGGAAGAAGAGAGGCCTACCCTCAGAGCCTGTGTGCAGCACCATCCCACTGCTGGGGCTCAGGTCCAAACTCCGGACTTTTACCTAGATCCCACCACCCACCAAGGAAGTCAGGTCACCAGATGCCCAGGCACCAAACCAGATGCCCGACACCAAGACAGTGGCCCAGACCTTTACCCCTCAGAATTCAACTACCCAAAATCGAACCCAAATCATCAGACTTCTCAGTCATTAGGGCTCTGGGCCAGGAATGAGTCCGCATCACCACTCGCTTTCTGCCCCAGATGGTCAGACTCCTTAGATACCAAGGCCCTGGCCCAGATGCCAGTCCTGGACACCAGACCCCACTTCTTCAAAACGTGCCTCTTCCCAGACACCAGGCCTTTGGCCCCTCAGACTCCCACTGTCACCATCTGACCCATCTCCACCCCAGGCCCAGATGACCAGATCTTTACCCCAGCCACCAGGGCTCTCAGGTCCAGATTCCAAGCCACTAGCCCCGCCCCCAGGATCCCACTAGCCAGCGTCTAGCTCAACTCTGCCCCAGAAATTAAAAGCTAGGCCTTTATCTCACAGGAGGAGTTATACACCAGAAGCCAAGCCTTTAACTCTGCACACCAAGAATCTGGTGAAGATGTCACGCCTCTACTCCAGAGAGTAAGTATTTCACTGGCCATCGCCTGACAAGCTCCACATCACCAGGGTTCTTCTAGCCTGGCCACCACCCCAGAAACTGTCATGCTGCAGTCCAGGCCTAGAGACCGCTATCCAGAAAACCAAGCCTTCATCCCAGAAACCAGAACCCTGGCCTCGTAAGCAAGCCTTTACTTCAGACACCGATCTTCACCTCTCAAGGTTCAGTTATGCGATCTTCCTCCTCTCCCATTCCCTGCACGCCCCCATTTCCGCCCCTGGTTCGGGAGGCTAGACGCTTCCCTTCGACAGTGGTTTTCTACTCAGACCCGAAGATACAACACCATATTTTTACTCCTGGACAGTTCGGTGCGGACATGACGATCCGGTCTCTGGCCCATTAGGGTTCCCAGACCTTGGCCTGGCAGTTTCGGCCTAAATCTCCTTGCCGACCCAGCCTCGATCCCCTGCGGCGTCCAGGTCCCAATGCCCCAACGCAGGCCACCCCCGGCTCCTCTGTGGACTCACGAAGACAAGGTCCGGCCGCTCGGGCCGCGAGAGTCGCGCCATCACCACCATTTTTCTGGATGCCCAGGTACAGGAGAGAGTCGCGCGCTTATGACGTCTACCACTGACGGCCCGCCCCTCCGAGCCAGACCCGTTTTCTATTGGTTAAATCATTTTTGACGGACAGGCCCACGTTATTGACTTCTTTTCGACGACGCCAGCGACCGGAAGCAGAATAGAGGCGCCAGAAGATGCGCCATCAGGATACACATTGGCCAATCAGCTTCAGCAATGGAGCGTGCAAAACACCAGTGAGCTTCTGTCTTGCTGGAGGGTCGGCTTTGGGCGGAACTGGCTTTGTTGACCGGGAGAAACGAGATGGGGGTGAAGCTGGAGATATTTCGGGTCAGTGGACACAGGAGTGGGTTGGGAGGCTGGGCAGGGGATCTTCCTGGATCTGAAGATGAGGTTGGAAATGGGGGGACTTCAAAGGAAGAGGGAGCTCCAAGGAGAAAGCTCTTAAGATTTGAGAGGAACCTTTCTGGTTGGAAATCCAGGAGAGGGGACGCTGGGCTGGGGGGGTTCTCGGATTTGGGCTTCTGGGTTTGGGGGCTGTGAGAGGGCTGGTCCGAGGAAGGACCTCAGAGAGGGGTGAGCTGAGAAGGGGGCTCTAAAGAAGGAAGACTTAAGATCCTGGGGGAGCTCTCGGGCTCGTGGTGGGTGGGTGTCTATGACAGGGAGATTCCTAGACTTCGAGAAGTGGAGTTGAAGAGTGACGCCTCCTGGGTTTGGGGGTGCTCCCGGGATCTTAAGTGGGGATGGGTAATGAGGTCTCGAGGAGATGCTTTTGATTGTAGCTGGGGCGTCTGTGTGTCTGTCTGTGTTTGAGAGGAAGACTCCAGCTCAGAGGGAACTTTCAGGAATGAGGCCTCCTGGATTATAGGAGTTAGGTTTTAGGGTGCGAGGTTTCTGTACCCTTGGTGGGAGTTCTGGGATTCTTGGGTCGGCCGTAACGAGGCGCTTCTGGACTCTGCAGTAGGATGGGTCCCCCAGGCTCTGAGGAGCCTCTGCACATTGCTTGGGGGGAGCTCACCTCACCCACCCTCTGCCATTCCAGATGATAATCTACCTCACTTTCCCTGTGGCTATGTTCTGGGTTTCCAATCAGGCCGAGTGGTTTGAGGACGATGTCATACAGCGCAAGGTGGGCATAAGAGGAGTGTTTGAGGGTTCATTCCAGGGGTGGGAGAGGGTGTGGGGCAGCAGTCTGCTGGGGACTAATGTCTGCCTCCCATAAGCCGACCCTGCCCTGATGTGGGGCTCTGGAGGCCTTTGGCTCGTGTCCCATTTGTGACTTTTCCTTACAGAGGGAGCTGTGGCCACCTGAGAAGGTAAGTGATCTCTTCTTCCTGCCAGAGGGATGGAGGAGGCTGGATTCTTGTATCCGGGATGGGTTTTAGATGAAAATTTTAGGCCAGGCGCAGTGGCTCATGCTTGTAATCCCAGGGCATGGGAGGCTGAGGTGGGTAGATCACTTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGCGAAACCCCATGTCTACAGAAATACAAAACTTAGCCAGGCATGGTGGCAGGCGCCTATAATTCCAGCTGCTTGGGAGGCTGAGGGAGAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCCAAGATCACGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTTTGTCTCAAAAAGAAACATTTTACTCTCAGCCATGAGTAAGGAACCGAGAGCAGAGGAGTAGATGGTTTCCTTATTGCCTTCTCCTGGAAGAGTGAAGCGGATCCCACGCGGACCCCTTTGTAATTGGCAGGGGGCTTCCAGTGAAGACACTGAACCCTGAAGCCGTGGTCTGGGGCAGGGTGGTGGGAGAGGTGGGCGGGGGGGGGTGGTCCCGGCTCTGAGGTGTGTGCCCCTCCCCCCTTCCTGTCCCACCCGCTTCTCCACCCCTAGCTTCAAGAGATAGAGGAATTCAAAGAGAGGTTACGGAAGCGGCGGGAGGAGAAGCTCCTTCGCGACGCCCAGCAGAACTCCTGAGGCCTCCAAGTGGGAGTCCTAGCCCCTCCCCTGATGAAATATACATATACTCAGTTCCTTGTTATTCATTTAAGTGTTTTATTCTTTTATCAGTTTTTGGGGGCCGAGTGAGACCCAGGATGCCTCAGGCCCTCAGGGGGCTTGTGTCGGGGGCTGGGGGCTGCTGTTCCGACGGAAGCCGAGAGCGGTCGGGTCCTGAGGGGTGAGCAGGGGTTGGGGACTGAGGGTCCCAGCTCGTTTCTGTGCTCCGTCCTGTGGATGAAGAGGGGTCAGCCAGGGGGAGGGCTCAAGGGCAGTGCCGGCCACAGGTGGCGAACAATGGAGA
TCGGTCACACAGCGATGCTTCACCTGTGCCCGACGCGCCTTCAGGTATCGGTACCAGAGTTTGTAGCTGGGGAATAGGAGGGGACAGATGCTGATCGGTCAGCTTTATGGACACCCCCAGAACCATTTGCCCTGCCCCAGTTGGCAAATGTGGGAAGAAGGGGTGTGGGAGGGGTGACATGTCTCAGCAATGACAGGGACAGACTGGGACATCAGAGAAGGTGTGCTGACCCATCAAGGGATGTACAGGTCAGTGATGAAACACGAAGCAATCACCCGGGACCCGGGACCCACTTGGCAGTTTTGTTATAACTGGACCAGGTGGGGTGGGGGCTGGTGGGCAGGGCAGCTGGAGCCATTCCCACCTGCAGGGCAGCAGCTTGAGTGCCCGCTCGTATAGCTGATTGAGCCTGGGCTTCGGGGCGCCCTGTTTGAACTCGATGTAGCGAAGCCAGCATTTGACAGAGAATTGGTTCCGCATGATTTCCTCCTCATAGGGGAGGTCCTCTTCCTCCTGCCAGGGCCAGGGAATGGGAAGAAGAGAGGCCTACCCTCAGAGCCTGTGTGCAGCACCATCCCACTGCTGGGGCTCAGGTCCAAACTCCGGACTTTTACCTAGATCCCACCACCCACCAAGGAAGTCAGGTCACCAGATGCCCAGGCACCAAACCAGATGCCCGACACCAAGACAGTGGCCCAGACCTTTACCCCTCAGAATTCAACTACCCAAAATCGAACCCAAATCATCAGACTTCTCAGTCATTAGGGCTCTGGGCCAGGAATGAGTCCGCATCACCACTCGCTTTCTGCCCCAGATGGTCAGACTCCTTAGATACCAAGGCCCTGGCCCAGATGCCAGTCCTGGACACCAGACCCCACTTCTTCAAAACGTGCCTCTTCCCAGACACCAGGCCTTTGGCCCCTCAGACTCCCACTGTCACCATCTGACCCATCTCCACCCCAGGCCCAGATGACCAGATCTTTACCCCAGCCACCAGGGCTCTCAGGTCCAGATTCCAAGCCACTAGCCCCGCCCCCAGGATCCCACTAGCCAGCGTCTAGCTCAACTCTGCCCCAGAAATTAAAAGCTAGGCCTTTATCTCACAGGAGGAGTTATACACCAGAAGCCAAGCCTTTAACTCTGCACACCAAGAATCTGGTGAAGATGTCACGCCTCTACTCCAGAGAGTAAGTATTTCACTGGCCATCGCCTGACAAGCTCCACATCACCAGGGTTCTTCTAGCCTGGCCACCACCCCAGAAACTGTCATGCTGCAGTCCAGGCCTAGAGACCGCTATCCAGAAAACCAAGCCTTCATCCCAGAAACCAGAACCCTGGCCTCGTAAGCAAGCCTTTACTTCAGACACCGATCTTCACCTCTCAAGGTTCAGTTATGCGATCTTCCTCCTCTCCCATTCCCTGCACGCCCCCATTTCCGCCCCTGGTTCGGGAGGCTAGACGCTTCCCTTCGACAGTGGTTTTCTACTCAGACCCGAAGATACAACACCATATTTTTACTCCTGGACAGTTCGGTGCGGACATGACGATCCGGTCTCTGGCCCATTAGGGTTCCCAGACCTTGGCCTGGCAGTTTCGGCCTAAATCTCCTTGCCGACCCAGCCTCGATCCCCTGCGGCGTCCAGGTCCCAATGCCCCAACGCAGGCCACCCCCGGCTCCTCTGTGGACTCACGAAGACAAGGTCCGGCCGCTCGGGCCGCGAGAGTCGCGCCATCACCACCATTTTTCTGGATGCCCAGGTACAGGAGAGAGTCGCGCGCTTATGACGTCTACCACTGACGGCCCGCCCCTCCGAGCCAGACCCGTTTTCTATTGGTTAAATCATTTTTGACGGACAGGCCCACGTTATTGACTTCTTTTCGACGACGCCAGCGACCGGAAGCAGAATAGAGGCGCCAGAAGATGCGCCATCAGGATACACATTGGCCAATCAGCTTCAGCAATGGAGCGTGCAAAACACCAGTGAGCTTCTGTCTTGCTGGAGGGTCGGCTTTGGGCGGAACTGGCTTTGTTGACCGGGAGAAACGAGGTGGGGGTGAAGCTGGAGATATTTCGGGTCAGTGGACACAGGAGTGGGTTGGGAGGCTGGGCAGGGGATCTTCCTGGATCTGAAGATGAGGTTGGAAATGGGGGGACTTCAAAGGAAGAGGGAGCTCCAAGGAGAAAGCTCTTAAGATTTGAGAGGAACCTTTCTGGTTGGAAATCCAGGAGAGGGGACGCTGGGCTGGGGGGGTTCTCGGATTTGGGCTTCTGGGTTTGGGGGCTGTGAGAGGGCTGGTCCGAGGAAGGACCTCAGAGAGGGGTGAGCTGAGAAGGGGGCTCTAAAGAAGGAAGACTTAAGATCCTGGGGGAGCTCTCGGGCTCGTGGTGGGTGGGTGTCTATGACAGGGAGATTCCTAGACTTCGAGAAGTGGAGTTGAAGAGTGACGCCTCCTGGGTTTGGGGGTGCTCCCGGGATCTTAAGTGGGGATGGGTAATGAGGTCTCGAGGAGATGCTTTTGATTGTAGCTGGGGCGTCTGTGTGTCTGTCTGTGTTTGAGAGGAAGACTCCAGCTCAGAGGGAACTTTCAGGAATGAGGCCTCCTGGATTATAGGAGTTAGGTTTTAGGGTGCGAGGTTTCTGTACCCTTGGTGGGAGTTCTGGGATTCTTGGGTCGGCCGTAACGAGGCGCTTCTGGACTCTGCAGTAGGATGGGTCCCCCAGGCTCTGAGGAGCCTCTGCACATTGCTTGGGGGGAGCTCACCTCACCCACCCTCTGCCATTCCAGATGATAATCTACCTCACTTTCCCTGTGGCTATGTTCTGGGTTTCCAATCAGGCCGAGTGGTTTGAGGACGATGTCATACAGCGCAAGGTGGGCATAAGAGGAGTGTTTGAGGGTTCATTCCAGGGGTGGGAGAGGGTGTGGGGCAGCAGTCTGCTGGGGACTAATGTCTGCCTCCCATAAGCCGACCCTGCCCTGATGTGGGGCTCTGGAGGCCTTTGGCTCGTGTCCCATTTGTGACTTTTCCTTACAGAGGGAGCTGTGGCCACCTGAGAAGGTAAGTGATCTCTTCTTCCTGCCAGAGGGATGGAGGAGGCTGGATTCTTGTATCCGGGATGGGTTTTAGATGAAAATTTTAGGCCAGGCGCAGTGGCTCATGCTTGTAATCCCAGGGCATGGGAGGCTGAGGTGGGTAGATCACTTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGCGAAACCCCATGTCTACAGAAATACAAAACTTAGCCAGGCATGGTGGCAGGCGCCTATAATTCCAGCTGCTTGGGAGGCTGAGGGAGAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCCAAGATCACGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTTTGTCTCAAAAAGAAACATTTTACTCTCAGCCATGAGTAAGGAACCGAGAGCAGAGGAGTAGATGGTTTCCTTATTGCCTTCTCCTGGAAGAGTGAAGCGGATCCCACGCGGACCCCTTTGTAATTGGCAGGGGGCTTCCAGTGAAGACACTGAACCCTGAAGCCGTGGTCTGGGGCAGGGTGGTGGGAGAGGTGGGCGGGGGGGGGTGGTCCCGGCTCTGAGGTGTGTGCCCCTCCCCCCTTCCTGTCCCACCCGCTTCTCCACCCCTAGCTTCAAGAGATAGAGGAATTCAAAGAGAGGTTACGGAAGCGGCGGGAGGAGAAGCTCCTTCGCGACGCCCAGCAGAACTCCTGAGGCCTCCAAGTGGGAGTCCTAGCCCCTCCCCTGATGAAATATACATATACTCAGTTCCTTGTTATTCATTTAAGTGTTTTATTCTTTTATCAGTTTTTGGGGGCCGAGTGAGACCCAGGATGCCTCAGGCCCTCAGGGGGCTTGTGTCGGGGGCTGGGGGCTGCTGTTCCGACGGAAGCCGAGAGCGGTCGGGTCCTGAGGGGTGAGCAGGGGTTGGGGACTGAGGGTCCCAGCTCGTTTCTGTGCTCCGTCCTGTGGATGAAGAGGGGTCAGCCAGGGGGAGGGCTCAAGGGCAGTGCCGGCCACAGGTGGCGAACAATGGAGA
Task1_train_26387
Consider this mutation in PET100, STXBP2 (PET100 cytochrome c oxidase chaperone| syntaxin binding protein 2) on Chromosome 19. Is this a benign change or a disease-causing variant?
Pathogenic; not provided
TCGGTCACACAGCGATGCTTCACCTGTGCCCGACGCGCCTTCAGGTATCGGTACCAGAGTTTGTAGCTGGGGAATAGGAGGGGACAGATGCTGATCGGTCAGCTTTATGGACACCCCCAGAACCATTTGCCCTGCCCCAGTTGGCAAATGTGGGAAGAAGGGGTGTGGGAGGGGTGACATGTCTCAGCAATGACAGGGACAGACTGGGACATCAGAGAAGGTGTGCTGACCCATCAAGGGATGTACAGGTCAGTGATGAAACACGAAGCAATCACCCGGGACCCGGGACCCACTTGGCAGTTTTGTTATAACTGGACCAGGTGGGGTGGGGGCTGGTGGGCAGGGCAGCTGGAGCCATTCCCACCTGCAGGGCAGCAGCTTGAGTGCCCGCTCGTATAGCTGATTGAGCCTGGGCTTCGGGGCGCCCTGTTTGAACTCGATGTAGCGAAGCCAGCATTTGACAGAGAATTGGTTCCGCATGATTTCCTCCTCATAGGGGAGGTCCTCTTCCTCCTGCCAGGGCCAGGGAATGGGAAGAAGAGAGGCCTACCCTCAGAGCCTGTGTGCAGCACCATCCCACTGCTGGGGCTCAGGTCCAAACTCCGGACTTTTACCTAGATCCCACCACCCACCAAGGAAGTCAGGTCACCAGATGCCCAGGCACCAAACCAGATGCCCGACACCAAGACAGTGGCCCAGACCTTTACCCCTCAGAATTCAACTACCCAAAATCGAACCCAAATCATCAGACTTCTCAGTCATTAGGGCTCTGGGCCAGGAATGAGTCCGCATCACCACTCGCTTTCTGCCCCAGATGGTCAGACTCCTTAGATACCAAGGCCCTGGCCCAGATGCCAGTCCTGGACACCAGACCCCACTTCTTCAAAACGTGCCTCTTCCCAGACACCAGGCCTTTGGCCCCTCAGACTCCCACTGTCACCATCTGACCCATCTCCACCCCAGGCCCAGATGACCAGATCTTTACCCCAGCCACCAGGGCTCTCAGGTCCAGATTCCAAGCCACTAGCCCCGCCCCCAGGATCCCACTAGCCAGCGTCTAGCTCAACTCTGCCCCAGAAATTAAAAGCTAGGCCTTTATCTCACAGGAGGAGTTATACACCAGAAGCCAAGCCTTTAACTCTGCACACCAAGAATCTGGTGAAGATGTCACGCCTCTACTCCAGAGAGTAAGTATTTCACTGGCCATCGCCTGACAAGCTCCACATCACCAGGGTTCTTCTAGCCTGGCCACCACCCCAGAAACTGTCATGCTGCAGTCCAGGCCTAGAGACCGCTATCCAGAAAACCAAGCCTTCATCCCAGAAACCAGAACCCTGGCCTCGTAAGCAAGCCTTTACTTCAGACACCGATCTTCACCTCTCAAGGTTCAGTTATGCGATCTTCCTCCTCTCCCATTCCCTGCACGCCCCCATTTCCGCCCCTGGTTCGGGAGGCTAGACGCTTCCCTTCGACAGTGGTTTTCTACTCAGACCCGAAGATACAACACCATATTTTTACTCCTGGACAGTTCGGTGCGGACATGACGATCCGGTCTCTGGCCCATTAGGGTTCCCAGACCTTGGCCTGGCAGTTTCGGCCTAAATCTCCTTGCCGACCCAGCCTCGATCCCCTGCGGCGTCCAGGTCCCAATGCCCCAACGCAGGCCACCCCCGGCTCCTCTGTGGACTCACGAAGACAAGGTCCGGCCGCTCGGGCCGCGAGAGTCGCGCCATCACCACCATTTTTCTGGATGCCCAGGTACAGGAGAGAGTCGCGCGCTTATGACGTCTACCACTGACGGCCCGCCCCTCCGAGCCAGACCCGTTTTCTATTGGTTAAATCATTTTTGACGGACAGGCCCACGTTATTGACTTCTTTTCGACGACGCCAGCGACCGGAAGCAGAATAGAGGCGCCAGAAGATGCGCCATCAGGATACACATTGGCCAATCAGCTTCAGCAATGGAGCGTGCAAAACACCAGTGAGCTTCTGTCTTGCTGGAGGGTCGGCTTTGGGCGGAACTGGCTTTGTTGACCGGGAGAAACGAGATGGGGGTGAAGCTGGAGATATTTCGGGTCAGTGGACACAGGAGTGGGTTGGGAGGCTGGGCAGGGGATCTTCCTGGATCTGAAGATGAGGTTGGAAATGGGGGGACTTCAAAGGAAGAGGGAGCTCCAAGGAGAAAGCTCTTAAGATTTGAGAGGAACCTTTCTGGTTGGAAATCCAGGAGAGGGGACGCTGGGCTGGGGGGGTTCTCGGATTTGGGCTTCTGGGTTTGGGGGCTGTGAGAGGGCTGGTCCGAGGAAGGACCTCAGAGAGGGGTGAGCTGAGAAGGGGGCTCTAAAGAAGGAAGACTTAAGATCCTGGGGGAGCTCTCGGGCTCGTGGTGGGTGGGTGTCTATGACAGGGAGATTCCTAGACTTCGAGAAGTGGAGTTGAAGAGTGACGCCTCCTGGGTTTGGGGGTGCTCCCGGGATCTTAAGTGGGGATGGGTAATGAGGTCTCGAGGAGATGCTTTTGATTGTAGCTGGGGCGTCTGTGTGTCTGTCTGTGTTTGAGAGGAAGACTCCAGCTCAGAGGGAACTTTCAGGAATGAGGCCTCCTGGATTATAGGAGTTAGGTTTTAGGGTGCGAGGTTTCTGTACCCTTGGTGGGAGTTCTGGGATTCTTGGGTCGGCCGTAACGAGGCGCTTCTGGACTCTGCAGTAGGATGGGTCCCCCAGGCTCTGAGGAGCCTCTGCACATTGCTTGGGGGGAGCTCACCTCACCCACCCTCTGCCATTCCAGATGATAATCTACCTCACTTTCCCTGTGGCTATGTTCTGGGTTTCCAATCAGGCCGAGTGGTTTGAGGACGATGTCATACAGCGCAAGGTGGGCATAAGAGGAGTGTTTGAGGGTTCATTCCAGGGGTGGGAGAGGGTGTGGGGCAGCAGTCTGCTGGGGACTAATGTCTGCCTCCCATAAGCCGACCCTGCCCTGATGTGGGGCTCTGGAGGCCTTTGGCTCGTGTCCCATTTGTGACTTTTCCTTACAGAGGGAGCTGTGGCCACCTGAGAAGGTAAGTGATCTCTTCTTCCTGCCAGAGGGATGGAGGAGGCTGGATTCTTGTATCCGGGATGGGTTTTAGATGAAAATTTTAGGCCAGGCGCAGTGGCTCATGCTTGTAATCCCAGGGCATGGGAGGCTGAGGTGGGTAGATCACTTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGCGAAACCCCATGTCTACAGAAATACAAAACTTAGCCAGGCATGGTGGCAGGCGCCTATAATTCCAGCTGCTTGGGAGGCTGAGGGAGAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCCAAGATCACGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTTTGTCTCAAAAAGAAACATTTTACTCTCAGCCATGAGTAAGGAACCGAGAGCAGAGGAGTAGATGGTTTCCTTATTGCCTTCTCCTGGAAGAGTGAAGCGGATCCCACGCGGACCCCTTTGTAATTGGCAGGGGGCTTCCAGTGAAGACACTGAACCCTGAAGCCGTGGTCTGGGGCAGGGTGGTGGGAGAGGTGGGCGGGGGGGGGTGGTCCCGGCTCTGAGGTGTGTGCCCCTCCCCCCTTCCTGTCCCACCCGCTTCTCCACCCCTAGCTTCAAGAGATAGAGGAATTCAAAGAGAGGTTACGGAAGCGGCGGGAGGAGAAGCTCCTTCGCGACGCCCAGCAGAACTCCTGAGGCCTCCAAGTGGGAGTCCTAGCCCCTCCCCTGATGAAATATACATATACTCAGTTCCTTGTTATTCATTTAAGTGTTTTATTCTTTTATCAGTTTTTGGGGGCCGAGTGAGACCCAGGATGCCTCAGGCCCTCAGGGGGCTTGTGTCGGGGGCTGGGGGCTGCTGTTCCGACGGAAGCCGAGAGCGGTCGGGTCCTGAGGGGTGAGCAGGGGTTGGGGACTGAGGGTCCCAGCTCGTTTCTGTGCTCCGTCCTGTGGATGAAGAGGGGTCAGCCAGGGGGAGGGCTCAAGGGCAGTGCCGGCCACAGGTGGCGAACAATGGAGA
TCGGTCACACAGCGATGCTTCACCTGTGCCCGACGCGCCTTCAGGTATCGGTACCAGAGTTTGTAGCTGGGGAATAGGAGGGGACAGATGCTGATCGGTCAGCTTTATGGACACCCCCAGAACCATTTGCCCTGCCCCAGTTGGCAAATGTGGGAAGAAGGGGTGTGGGAGGGGTGACATGTCTCAGCAATGACAGGGACAGACTGGGACATCAGAGAAGGTGTGCTGACCCATCAAGGGATGTACAGGTCAGTGATGAAACACGAAGCAATCACCCGGGACCCGGGACCCACTTGGCAGTTTTGTTATAACTGGACCAGGTGGGGTGGGGGCTGGTGGGCAGGGCAGCTGGAGCCATTCCCACCTGCAGGGCAGCAGCTTGAGTGCCCGCTCGTATAGCTGATTGAGCCTGGGCTTCGGGGCGCCCTGTTTGAACTCGATGTAGCGAAGCCAGCATTTGACAGAGAATTGGTTCCGCATGATTTCCTCCTCATAGGGGAGGTCCTCTTCCTCCTGCCAGGGCCAGGGAATGGGAAGAAGAGAGGCCTACCCTCAGAGCCTGTGTGCAGCACCATCCCACTGCTGGGGCTCAGGTCCAAACTCCGGACTTTTACCTAGATCCCACCACCCACCAAGGAAGTCAGGTCACCAGATGCCCAGGCACCAAACCAGATGCCCGACACCAAGACAGTGGCCCAGACCTTTACCCCTCAGAATTCAACTACCCAAAATCGAACCCAAATCATCAGACTTCTCAGTCATTAGGGCTCTGGGCCAGGAATGAGTCCGCATCACCACTCGCTTTCTGCCCCAGATGGTCAGACTCCTTAGATACCAAGGCCCTGGCCCAGATGCCAGTCCTGGACACCAGACCCCACTTCTTCAAAACGTGCCTCTTCCCAGACACCAGGCCTTTGGCCCCTCAGACTCCCACTGTCACCATCTGACCCATCTCCACCCCAGGCCCAGATGACCAGATCTTTACCCCAGCCACCAGGGCTCTCAGGTCCAGATTCCAAGCCACTAGCCCCGCCCCCAGGATCCCACTAGCCAGCGTCTAGCTCAACTCTGCCCCAGAAATTAAAAGCTAGGCCTTTATCTCACAGGAGGAGTTATACACCAGAAGCCAAGCCTTTAACTCTGCACACCAAGAATCTGGTGAAGATGTCACGCCTCTACTCCAGAGAGTAAGTATTTCACTGGCCATCGCCTGACAAGCTCCACATCACCAGGGTTCTTCTAGCCTGGCCACCACCCCAGAAACTGTCATGCTGCAGTCCAGGCCTAGAGACCGCTATCCAGAAAACCAAGCCTTCATCCCAGAAACCAGAACCCTGGCCTCGTAAGCAAGCCTTTACTTCAGACACCGATCTTCACCTCTCAAGGTTCAGTTATGCGATCTTCCTCCTCTCCCATTCCCTGCACGCCCCCATTTCCGCCCCTGGTTCGGGAGGCTAGACGCTTCCCTTCGACAGTGGTTTTCTACTCAGACCCGAAGATACAACACCATATTTTTACTCCTGGACAGTTCGGTGCGGACATGACGATCCGGTCTCTGGCCCATTAGGGTTCCCAGACCTTGGCCTGGCAGTTTCGGCCTAAATCTCCTTGCCGACCCAGCCTCGATCCCCTGCGGCGTCCAGGTCCCAATGCCCCAACGCAGGCCACCCCCGGCTCCTCTGTGGACTCACGAAGACAAGGTCCGGCCGCTCGGGCCGCGAGAGTCGCGCCATCACCACCATTTTTCTGGATGCCCAGGTACAGGAGAGAGTCGCGCGCTTATGACGTCTACCACTGACGGCCCGCCCCTCCGAGCCAGACCCGTTTTCTATTGGTTAAATCATTTTTGACGGACAGGCCCACGTTATTGACTTCTTTTCGACGACGCCAGCGACCGGAAGCAGAATAGAGGCGCCAGAAGATGCGCCATCAGGATACACATTGGCCAATCAGCTTCAGCAATGGAGCGTGCAAAACACCAGTGAGCTTCTGTCTTGCTGGAGGGTCGGCTTTGGGCGGAACTGGCTTTGTTGACCGGGAGAAACGAGTTGGGGGTGAAGCTGGAGATATTTCGGGTCAGTGGACACAGGAGTGGGTTGGGAGGCTGGGCAGGGGATCTTCCTGGATCTGAAGATGAGGTTGGAAATGGGGGGACTTCAAAGGAAGAGGGAGCTCCAAGGAGAAAGCTCTTAAGATTTGAGAGGAACCTTTCTGGTTGGAAATCCAGGAGAGGGGACGCTGGGCTGGGGGGGTTCTCGGATTTGGGCTTCTGGGTTTGGGGGCTGTGAGAGGGCTGGTCCGAGGAAGGACCTCAGAGAGGGGTGAGCTGAGAAGGGGGCTCTAAAGAAGGAAGACTTAAGATCCTGGGGGAGCTCTCGGGCTCGTGGTGGGTGGGTGTCTATGACAGGGAGATTCCTAGACTTCGAGAAGTGGAGTTGAAGAGTGACGCCTCCTGGGTTTGGGGGTGCTCCCGGGATCTTAAGTGGGGATGGGTAATGAGGTCTCGAGGAGATGCTTTTGATTGTAGCTGGGGCGTCTGTGTGTCTGTCTGTGTTTGAGAGGAAGACTCCAGCTCAGAGGGAACTTTCAGGAATGAGGCCTCCTGGATTATAGGAGTTAGGTTTTAGGGTGCGAGGTTTCTGTACCCTTGGTGGGAGTTCTGGGATTCTTGGGTCGGCCGTAACGAGGCGCTTCTGGACTCTGCAGTAGGATGGGTCCCCCAGGCTCTGAGGAGCCTCTGCACATTGCTTGGGGGGAGCTCACCTCACCCACCCTCTGCCATTCCAGATGATAATCTACCTCACTTTCCCTGTGGCTATGTTCTGGGTTTCCAATCAGGCCGAGTGGTTTGAGGACGATGTCATACAGCGCAAGGTGGGCATAAGAGGAGTGTTTGAGGGTTCATTCCAGGGGTGGGAGAGGGTGTGGGGCAGCAGTCTGCTGGGGACTAATGTCTGCCTCCCATAAGCCGACCCTGCCCTGATGTGGGGCTCTGGAGGCCTTTGGCTCGTGTCCCATTTGTGACTTTTCCTTACAGAGGGAGCTGTGGCCACCTGAGAAGGTAAGTGATCTCTTCTTCCTGCCAGAGGGATGGAGGAGGCTGGATTCTTGTATCCGGGATGGGTTTTAGATGAAAATTTTAGGCCAGGCGCAGTGGCTCATGCTTGTAATCCCAGGGCATGGGAGGCTGAGGTGGGTAGATCACTTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGCGAAACCCCATGTCTACAGAAATACAAAACTTAGCCAGGCATGGTGGCAGGCGCCTATAATTCCAGCTGCTTGGGAGGCTGAGGGAGAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCCAAGATCACGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTTTGTCTCAAAAAGAAACATTTTACTCTCAGCCATGAGTAAGGAACCGAGAGCAGAGGAGTAGATGGTTTCCTTATTGCCTTCTCCTGGAAGAGTGAAGCGGATCCCACGCGGACCCCTTTGTAATTGGCAGGGGGCTTCCAGTGAAGACACTGAACCCTGAAGCCGTGGTCTGGGGCAGGGTGGTGGGAGAGGTGGGCGGGGGGGGGTGGTCCCGGCTCTGAGGTGTGTGCCCCTCCCCCCTTCCTGTCCCACCCGCTTCTCCACCCCTAGCTTCAAGAGATAGAGGAATTCAAAGAGAGGTTACGGAAGCGGCGGGAGGAGAAGCTCCTTCGCGACGCCCAGCAGAACTCCTGAGGCCTCCAAGTGGGAGTCCTAGCCCCTCCCCTGATGAAATATACATATACTCAGTTCCTTGTTATTCATTTAAGTGTTTTATTCTTTTATCAGTTTTTGGGGGCCGAGTGAGACCCAGGATGCCTCAGGCCCTCAGGGGGCTTGTGTCGGGGGCTGGGGGCTGCTGTTCCGACGGAAGCCGAGAGCGGTCGGGTCCTGAGGGGTGAGCAGGGGTTGGGGACTGAGGGTCCCAGCTCGTTTCTGTGCTCCGTCCTGTGGATGAAGAGGGGTCAGCCAGGGGGAGGGCTCAAGGGCAGTGCCGGCCACAGGTGGCGAACAATGGAGA
Task1_train_26388
The gene PET100, STXBP2 (PET100 cytochrome c oxidase chaperone| syntaxin binding protein 2) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 12
GGTCACACAGCGATGCTTCACCTGTGCCCGACGCGCCTTCAGGTATCGGTACCAGAGTTTGTAGCTGGGGAATAGGAGGGGACAGATGCTGATCGGTCAGCTTTATGGACACCCCCAGAACCATTTGCCCTGCCCCAGTTGGCAAATGTGGGAAGAAGGGGTGTGGGAGGGGTGACATGTCTCAGCAATGACAGGGACAGACTGGGACATCAGAGAAGGTGTGCTGACCCATCAAGGGATGTACAGGTCAGTGATGAAACACGAAGCAATCACCCGGGACCCGGGACCCACTTGGCAGTTTTGTTATAACTGGACCAGGTGGGGTGGGGGCTGGTGGGCAGGGCAGCTGGAGCCATTCCCACCTGCAGGGCAGCAGCTTGAGTGCCCGCTCGTATAGCTGATTGAGCCTGGGCTTCGGGGCGCCCTGTTTGAACTCGATGTAGCGAAGCCAGCATTTGACAGAGAATTGGTTCCGCATGATTTCCTCCTCATAGGGGAGGTCCTCTTCCTCCTGCCAGGGCCAGGGAATGGGAAGAAGAGAGGCCTACCCTCAGAGCCTGTGTGCAGCACCATCCCACTGCTGGGGCTCAGGTCCAAACTCCGGACTTTTACCTAGATCCCACCACCCACCAAGGAAGTCAGGTCACCAGATGCCCAGGCACCAAACCAGATGCCCGACACCAAGACAGTGGCCCAGACCTTTACCCCTCAGAATTCAACTACCCAAAATCGAACCCAAATCATCAGACTTCTCAGTCATTAGGGCTCTGGGCCAGGAATGAGTCCGCATCACCACTCGCTTTCTGCCCCAGATGGTCAGACTCCTTAGATACCAAGGCCCTGGCCCAGATGCCAGTCCTGGACACCAGACCCCACTTCTTCAAAACGTGCCTCTTCCCAGACACCAGGCCTTTGGCCCCTCAGACTCCCACTGTCACCATCTGACCCATCTCCACCCCAGGCCCAGATGACCAGATCTTTACCCCAGCCACCAGGGCTCTCAGGTCCAGATTCCAAGCCACTAGCCCCGCCCCCAGGATCCCACTAGCCAGCGTCTAGCTCAACTCTGCCCCAGAAATTAAAAGCTAGGCCTTTATCTCACAGGAGGAGTTATACACCAGAAGCCAAGCCTTTAACTCTGCACACCAAGAATCTGGTGAAGATGTCACGCCTCTACTCCAGAGAGTAAGTATTTCACTGGCCATCGCCTGACAAGCTCCACATCACCAGGGTTCTTCTAGCCTGGCCACCACCCCAGAAACTGTCATGCTGCAGTCCAGGCCTAGAGACCGCTATCCAGAAAACCAAGCCTTCATCCCAGAAACCAGAACCCTGGCCTCGTAAGCAAGCCTTTACTTCAGACACCGATCTTCACCTCTCAAGGTTCAGTTATGCGATCTTCCTCCTCTCCCATTCCCTGCACGCCCCCATTTCCGCCCCTGGTTCGGGAGGCTAGACGCTTCCCTTCGACAGTGGTTTTCTACTCAGACCCGAAGATACAACACCATATTTTTACTCCTGGACAGTTCGGTGCGGACATGACGATCCGGTCTCTGGCCCATTAGGGTTCCCAGACCTTGGCCTGGCAGTTTCGGCCTAAATCTCCTTGCCGACCCAGCCTCGATCCCCTGCGGCGTCCAGGTCCCAATGCCCCAACGCAGGCCACCCCCGGCTCCTCTGTGGACTCACGAAGACAAGGTCCGGCCGCTCGGGCCGCGAGAGTCGCGCCATCACCACCATTTTTCTGGATGCCCAGGTACAGGAGAGAGTCGCGCGCTTATGACGTCTACCACTGACGGCCCGCCCCTCCGAGCCAGACCCGTTTTCTATTGGTTAAATCATTTTTGACGGACAGGCCCACGTTATTGACTTCTTTTCGACGACGCCAGCGACCGGAAGCAGAATAGAGGCGCCAGAAGATGCGCCATCAGGATACACATTGGCCAATCAGCTTCAGCAATGGAGCGTGCAAAACACCAGTGAGCTTCTGTCTTGCTGGAGGGTCGGCTTTGGGCGGAACTGGCTTTGTTGACCGGGAGAAACGAGATGGGGGTGAAGCTGGAGATATTTCGGGTCAGTGGACACAGGAGTGGGTTGGGAGGCTGGGCAGGGGATCTTCCTGGATCTGAAGATGAGGTTGGAAATGGGGGGACTTCAAAGGAAGAGGGAGCTCCAAGGAGAAAGCTCTTAAGATTTGAGAGGAACCTTTCTGGTTGGAAATCCAGGAGAGGGGACGCTGGGCTGGGGGGGTTCTCGGATTTGGGCTTCTGGGTTTGGGGGCTGTGAGAGGGCTGGTCCGAGGAAGGACCTCAGAGAGGGGTGAGCTGAGAAGGGGGCTCTAAAGAAGGAAGACTTAAGATCCTGGGGGAGCTCTCGGGCTCGTGGTGGGTGGGTGTCTATGACAGGGAGATTCCTAGACTTCGAGAAGTGGAGTTGAAGAGTGACGCCTCCTGGGTTTGGGGGTGCTCCCGGGATCTTAAGTGGGGATGGGTAATGAGGTCTCGAGGAGATGCTTTTGATTGTAGCTGGGGCGTCTGTGTGTCTGTCTGTGTTTGAGAGGAAGACTCCAGCTCAGAGGGAACTTTCAGGAATGAGGCCTCCTGGATTATAGGAGTTAGGTTTTAGGGTGCGAGGTTTCTGTACCCTTGGTGGGAGTTCTGGGATTCTTGGGTCGGCCGTAACGAGGCGCTTCTGGACTCTGCAGTAGGATGGGTCCCCCAGGCTCTGAGGAGCCTCTGCACATTGCTTGGGGGGAGCTCACCTCACCCACCCTCTGCCATTCCAGATGATAATCTACCTCACTTTCCCTGTGGCTATGTTCTGGGTTTCCAATCAGGCCGAGTGGTTTGAGGACGATGTCATACAGCGCAAGGTGGGCATAAGAGGAGTGTTTGAGGGTTCATTCCAGGGGTGGGAGAGGGTGTGGGGCAGCAGTCTGCTGGGGACTAATGTCTGCCTCCCATAAGCCGACCCTGCCCTGATGTGGGGCTCTGGAGGCCTTTGGCTCGTGTCCCATTTGTGACTTTTCCTTACAGAGGGAGCTGTGGCCACCTGAGAAGGTAAGTGATCTCTTCTTCCTGCCAGAGGGATGGAGGAGGCTGGATTCTTGTATCCGGGATGGGTTTTAGATGAAAATTTTAGGCCAGGCGCAGTGGCTCATGCTTGTAATCCCAGGGCATGGGAGGCTGAGGTGGGTAGATCACTTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGCGAAACCCCATGTCTACAGAAATACAAAACTTAGCCAGGCATGGTGGCAGGCGCCTATAATTCCAGCTGCTTGGGAGGCTGAGGGAGAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCCAAGATCACGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTTTGTCTCAAAAAGAAACATTTTACTCTCAGCCATGAGTAAGGAACCGAGAGCAGAGGAGTAGATGGTTTCCTTATTGCCTTCTCCTGGAAGAGTGAAGCGGATCCCACGCGGACCCCTTTGTAATTGGCAGGGGGCTTCCAGTGAAGACACTGAACCCTGAAGCCGTGGTCTGGGGCAGGGTGGTGGGAGAGGTGGGCGGGGGGGGGTGGTCCCGGCTCTGAGGTGTGTGCCCCTCCCCCCTTCCTGTCCCACCCGCTTCTCCACCCCTAGCTTCAAGAGATAGAGGAATTCAAAGAGAGGTTACGGAAGCGGCGGGAGGAGAAGCTCCTTCGCGACGCCCAGCAGAACTCCTGAGGCCTCCAAGTGGGAGTCCTAGCCCCTCCCCTGATGAAATATACATATACTCAGTTCCTTGTTATTCATTTAAGTGTTTTATTCTTTTATCAGTTTTTGGGGGCCGAGTGAGACCCAGGATGCCTCAGGCCCTCAGGGGGCTTGTGTCGGGGGCTGGGGGCTGCTGTTCCGACGGAAGCCGAGAGCGGTCGGGTCCTGAGGGGTGAGCAGGGGTTGGGGACTGAGGGTCCCAGCTCGTTTCTGTGCTCCGTCCTGTGGATGAAGAGGGGTCAGCCAGGGGGAGGGCTCAAGGGCAGTGCCGGCCACAGGTGGCGAACAATGGAGAGA
GGTCACACAGCGATGCTTCACCTGTGCCCGACGCGCCTTCAGGTATCGGTACCAGAGTTTGTAGCTGGGGAATAGGAGGGGACAGATGCTGATCGGTCAGCTTTATGGACACCCCCAGAACCATTTGCCCTGCCCCAGTTGGCAAATGTGGGAAGAAGGGGTGTGGGAGGGGTGACATGTCTCAGCAATGACAGGGACAGACTGGGACATCAGAGAAGGTGTGCTGACCCATCAAGGGATGTACAGGTCAGTGATGAAACACGAAGCAATCACCCGGGACCCGGGACCCACTTGGCAGTTTTGTTATAACTGGACCAGGTGGGGTGGGGGCTGGTGGGCAGGGCAGCTGGAGCCATTCCCACCTGCAGGGCAGCAGCTTGAGTGCCCGCTCGTATAGCTGATTGAGCCTGGGCTTCGGGGCGCCCTGTTTGAACTCGATGTAGCGAAGCCAGCATTTGACAGAGAATTGGTTCCGCATGATTTCCTCCTCATAGGGGAGGTCCTCTTCCTCCTGCCAGGGCCAGGGAATGGGAAGAAGAGAGGCCTACCCTCAGAGCCTGTGTGCAGCACCATCCCACTGCTGGGGCTCAGGTCCAAACTCCGGACTTTTACCTAGATCCCACCACCCACCAAGGAAGTCAGGTCACCAGATGCCCAGGCACCAAACCAGATGCCCGACACCAAGACAGTGGCCCAGACCTTTACCCCTCAGAATTCAACTACCCAAAATCGAACCCAAATCATCAGACTTCTCAGTCATTAGGGCTCTGGGCCAGGAATGAGTCCGCATCACCACTCGCTTTCTGCCCCAGATGGTCAGACTCCTTAGATACCAAGGCCCTGGCCCAGATGCCAGTCCTGGACACCAGACCCCACTTCTTCAAAACGTGCCTCTTCCCAGACACCAGGCCTTTGGCCCCTCAGACTCCCACTGTCACCATCTGACCCATCTCCACCCCAGGCCCAGATGACCAGATCTTTACCCCAGCCACCAGGGCTCTCAGGTCCAGATTCCAAGCCACTAGCCCCGCCCCCAGGATCCCACTAGCCAGCGTCTAGCTCAACTCTGCCCCAGAAATTAAAAGCTAGGCCTTTATCTCACAGGAGGAGTTATACACCAGAAGCCAAGCCTTTAACTCTGCACACCAAGAATCTGGTGAAGATGTCACGCCTCTACTCCAGAGAGTAAGTATTTCACTGGCCATCGCCTGACAAGCTCCACATCACCAGGGTTCTTCTAGCCTGGCCACCACCCCAGAAACTGTCATGCTGCAGTCCAGGCCTAGAGACCGCTATCCAGAAAACCAAGCCTTCATCCCAGAAACCAGAACCCTGGCCTCGTAAGCAAGCCTTTACTTCAGACACCGATCTTCACCTCTCAAGGTTCAGTTATGCGATCTTCCTCCTCTCCCATTCCCTGCACGCCCCCATTTCCGCCCCTGGTTCGGGAGGCTAGACGCTTCCCTTCGACAGTGGTTTTCTACTCAGACCCGAAGATACAACACCATATTTTTACTCCTGGACAGTTCGGTGCGGACATGACGATCCGGTCTCTGGCCCATTAGGGTTCCCAGACCTTGGCCTGGCAGTTTCGGCCTAAATCTCCTTGCCGACCCAGCCTCGATCCCCTGCGGCGTCCAGGTCCCAATGCCCCAACGCAGGCCACCCCCGGCTCCTCTGTGGACTCACGAAGACAAGGTCCGGCCGCTCGGGCCGCGAGAGTCGCGCCATCACCACCATTTTTCTGGATGCCCAGGTACAGGAGAGAGTCGCGCGCTTATGACGTCTACCACTGACGGCCCGCCCCTCCGAGCCAGACCCGTTTTCTATTGGTTAAATCATTTTTGACGGACAGGCCCACGTTATTGACTTCTTTTCGACGACGCCAGCGACCGGAAGCAGAATAGAGGCGCCAGAAGATGCGCCATCAGGATACACATTGGCCAATCAGCTTCAGCAATGGAGCGTGCAAAACACCAGTGAGCTTCTGTCTTGCTGGAGGGTCGGCTTTGGGCGGAACTGGCTTTGTTGACCGGGAGAAACGAGATCGGGGTGAAGCTGGAGATATTTCGGGTCAGTGGACACAGGAGTGGGTTGGGAGGCTGGGCAGGGGATCTTCCTGGATCTGAAGATGAGGTTGGAAATGGGGGGACTTCAAAGGAAGAGGGAGCTCCAAGGAGAAAGCTCTTAAGATTTGAGAGGAACCTTTCTGGTTGGAAATCCAGGAGAGGGGACGCTGGGCTGGGGGGGTTCTCGGATTTGGGCTTCTGGGTTTGGGGGCTGTGAGAGGGCTGGTCCGAGGAAGGACCTCAGAGAGGGGTGAGCTGAGAAGGGGGCTCTAAAGAAGGAAGACTTAAGATCCTGGGGGAGCTCTCGGGCTCGTGGTGGGTGGGTGTCTATGACAGGGAGATTCCTAGACTTCGAGAAGTGGAGTTGAAGAGTGACGCCTCCTGGGTTTGGGGGTGCTCCCGGGATCTTAAGTGGGGATGGGTAATGAGGTCTCGAGGAGATGCTTTTGATTGTAGCTGGGGCGTCTGTGTGTCTGTCTGTGTTTGAGAGGAAGACTCCAGCTCAGAGGGAACTTTCAGGAATGAGGCCTCCTGGATTATAGGAGTTAGGTTTTAGGGTGCGAGGTTTCTGTACCCTTGGTGGGAGTTCTGGGATTCTTGGGTCGGCCGTAACGAGGCGCTTCTGGACTCTGCAGTAGGATGGGTCCCCCAGGCTCTGAGGAGCCTCTGCACATTGCTTGGGGGGAGCTCACCTCACCCACCCTCTGCCATTCCAGATGATAATCTACCTCACTTTCCCTGTGGCTATGTTCTGGGTTTCCAATCAGGCCGAGTGGTTTGAGGACGATGTCATACAGCGCAAGGTGGGCATAAGAGGAGTGTTTGAGGGTTCATTCCAGGGGTGGGAGAGGGTGTGGGGCAGCAGTCTGCTGGGGACTAATGTCTGCCTCCCATAAGCCGACCCTGCCCTGATGTGGGGCTCTGGAGGCCTTTGGCTCGTGTCCCATTTGTGACTTTTCCTTACAGAGGGAGCTGTGGCCACCTGAGAAGGTAAGTGATCTCTTCTTCCTGCCAGAGGGATGGAGGAGGCTGGATTCTTGTATCCGGGATGGGTTTTAGATGAAAATTTTAGGCCAGGCGCAGTGGCTCATGCTTGTAATCCCAGGGCATGGGAGGCTGAGGTGGGTAGATCACTTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGCGAAACCCCATGTCTACAGAAATACAAAACTTAGCCAGGCATGGTGGCAGGCGCCTATAATTCCAGCTGCTTGGGAGGCTGAGGGAGAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCCAAGATCACGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTTTGTCTCAAAAAGAAACATTTTACTCTCAGCCATGAGTAAGGAACCGAGAGCAGAGGAGTAGATGGTTTCCTTATTGCCTTCTCCTGGAAGAGTGAAGCGGATCCCACGCGGACCCCTTTGTAATTGGCAGGGGGCTTCCAGTGAAGACACTGAACCCTGAAGCCGTGGTCTGGGGCAGGGTGGTGGGAGAGGTGGGCGGGGGGGGGTGGTCCCGGCTCTGAGGTGTGTGCCCCTCCCCCCTTCCTGTCCCACCCGCTTCTCCACCCCTAGCTTCAAGAGATAGAGGAATTCAAAGAGAGGTTACGGAAGCGGCGGGAGGAGAAGCTCCTTCGCGACGCCCAGCAGAACTCCTGAGGCCTCCAAGTGGGAGTCCTAGCCCCTCCCCTGATGAAATATACATATACTCAGTTCCTTGTTATTCATTTAAGTGTTTTATTCTTTTATCAGTTTTTGGGGGCCGAGTGAGACCCAGGATGCCTCAGGCCCTCAGGGGGCTTGTGTCGGGGGCTGGGGGCTGCTGTTCCGACGGAAGCCGAGAGCGGTCGGGTCCTGAGGGGTGAGCAGGGGTTGGGGACTGAGGGTCCCAGCTCGTTTCTGTGCTCCGTCCTGTGGATGAAGAGGGGTCAGCCAGGGGGAGGGCTCAAGGGCAGTGCCGGCCACAGGTGGCGAACAATGGAGAGA
Task1_train_26389
Gene PET100, STXBP2 (PET100 cytochrome c oxidase chaperone| syntaxin binding protein 2) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Mitochondrial complex IV deficiency, nuclear type 1
GGTCACACAGCGATGCTTCACCTGTGCCCGACGCGCCTTCAGGTATCGGTACCAGAGTTTGTAGCTGGGGAATAGGAGGGGACAGATGCTGATCGGTCAGCTTTATGGACACCCCCAGAACCATTTGCCCTGCCCCAGTTGGCAAATGTGGGAAGAAGGGGTGTGGGAGGGGTGACATGTCTCAGCAATGACAGGGACAGACTGGGACATCAGAGAAGGTGTGCTGACCCATCAAGGGATGTACAGGTCAGTGATGAAACACGAAGCAATCACCCGGGACCCGGGACCCACTTGGCAGTTTTGTTATAACTGGACCAGGTGGGGTGGGGGCTGGTGGGCAGGGCAGCTGGAGCCATTCCCACCTGCAGGGCAGCAGCTTGAGTGCCCGCTCGTATAGCTGATTGAGCCTGGGCTTCGGGGCGCCCTGTTTGAACTCGATGTAGCGAAGCCAGCATTTGACAGAGAATTGGTTCCGCATGATTTCCTCCTCATAGGGGAGGTCCTCTTCCTCCTGCCAGGGCCAGGGAATGGGAAGAAGAGAGGCCTACCCTCAGAGCCTGTGTGCAGCACCATCCCACTGCTGGGGCTCAGGTCCAAACTCCGGACTTTTACCTAGATCCCACCACCCACCAAGGAAGTCAGGTCACCAGATGCCCAGGCACCAAACCAGATGCCCGACACCAAGACAGTGGCCCAGACCTTTACCCCTCAGAATTCAACTACCCAAAATCGAACCCAAATCATCAGACTTCTCAGTCATTAGGGCTCTGGGCCAGGAATGAGTCCGCATCACCACTCGCTTTCTGCCCCAGATGGTCAGACTCCTTAGATACCAAGGCCCTGGCCCAGATGCCAGTCCTGGACACCAGACCCCACTTCTTCAAAACGTGCCTCTTCCCAGACACCAGGCCTTTGGCCCCTCAGACTCCCACTGTCACCATCTGACCCATCTCCACCCCAGGCCCAGATGACCAGATCTTTACCCCAGCCACCAGGGCTCTCAGGTCCAGATTCCAAGCCACTAGCCCCGCCCCCAGGATCCCACTAGCCAGCGTCTAGCTCAACTCTGCCCCAGAAATTAAAAGCTAGGCCTTTATCTCACAGGAGGAGTTATACACCAGAAGCCAAGCCTTTAACTCTGCACACCAAGAATCTGGTGAAGATGTCACGCCTCTACTCCAGAGAGTAAGTATTTCACTGGCCATCGCCTGACAAGCTCCACATCACCAGGGTTCTTCTAGCCTGGCCACCACCCCAGAAACTGTCATGCTGCAGTCCAGGCCTAGAGACCGCTATCCAGAAAACCAAGCCTTCATCCCAGAAACCAGAACCCTGGCCTCGTAAGCAAGCCTTTACTTCAGACACCGATCTTCACCTCTCAAGGTTCAGTTATGCGATCTTCCTCCTCTCCCATTCCCTGCACGCCCCCATTTCCGCCCCTGGTTCGGGAGGCTAGACGCTTCCCTTCGACAGTGGTTTTCTACTCAGACCCGAAGATACAACACCATATTTTTACTCCTGGACAGTTCGGTGCGGACATGACGATCCGGTCTCTGGCCCATTAGGGTTCCCAGACCTTGGCCTGGCAGTTTCGGCCTAAATCTCCTTGCCGACCCAGCCTCGATCCCCTGCGGCGTCCAGGTCCCAATGCCCCAACGCAGGCCACCCCCGGCTCCTCTGTGGACTCACGAAGACAAGGTCCGGCCGCTCGGGCCGCGAGAGTCGCGCCATCACCACCATTTTTCTGGATGCCCAGGTACAGGAGAGAGTCGCGCGCTTATGACGTCTACCACTGACGGCCCGCCCCTCCGAGCCAGACCCGTTTTCTATTGGTTAAATCATTTTTGACGGACAGGCCCACGTTATTGACTTCTTTTCGACGACGCCAGCGACCGGAAGCAGAATAGAGGCGCCAGAAGATGCGCCATCAGGATACACATTGGCCAATCAGCTTCAGCAATGGAGCGTGCAAAACACCAGTGAGCTTCTGTCTTGCTGGAGGGTCGGCTTTGGGCGGAACTGGCTTTGTTGACCGGGAGAAACGAGATGGGGGTGAAGCTGGAGATATTTCGGGTCAGTGGACACAGGAGTGGGTTGGGAGGCTGGGCAGGGGATCTTCCTGGATCTGAAGATGAGGTTGGAAATGGGGGGACTTCAAAGGAAGAGGGAGCTCCAAGGAGAAAGCTCTTAAGATTTGAGAGGAACCTTTCTGGTTGGAAATCCAGGAGAGGGGACGCTGGGCTGGGGGGGTTCTCGGATTTGGGCTTCTGGGTTTGGGGGCTGTGAGAGGGCTGGTCCGAGGAAGGACCTCAGAGAGGGGTGAGCTGAGAAGGGGGCTCTAAAGAAGGAAGACTTAAGATCCTGGGGGAGCTCTCGGGCTCGTGGTGGGTGGGTGTCTATGACAGGGAGATTCCTAGACTTCGAGAAGTGGAGTTGAAGAGTGACGCCTCCTGGGTTTGGGGGTGCTCCCGGGATCTTAAGTGGGGATGGGTAATGAGGTCTCGAGGAGATGCTTTTGATTGTAGCTGGGGCGTCTGTGTGTCTGTCTGTGTTTGAGAGGAAGACTCCAGCTCAGAGGGAACTTTCAGGAATGAGGCCTCCTGGATTATAGGAGTTAGGTTTTAGGGTGCGAGGTTTCTGTACCCTTGGTGGGAGTTCTGGGATTCTTGGGTCGGCCGTAACGAGGCGCTTCTGGACTCTGCAGTAGGATGGGTCCCCCAGGCTCTGAGGAGCCTCTGCACATTGCTTGGGGGGAGCTCACCTCACCCACCCTCTGCCATTCCAGATGATAATCTACCTCACTTTCCCTGTGGCTATGTTCTGGGTTTCCAATCAGGCCGAGTGGTTTGAGGACGATGTCATACAGCGCAAGGTGGGCATAAGAGGAGTGTTTGAGGGTTCATTCCAGGGGTGGGAGAGGGTGTGGGGCAGCAGTCTGCTGGGGACTAATGTCTGCCTCCCATAAGCCGACCCTGCCCTGATGTGGGGCTCTGGAGGCCTTTGGCTCGTGTCCCATTTGTGACTTTTCCTTACAGAGGGAGCTGTGGCCACCTGAGAAGGTAAGTGATCTCTTCTTCCTGCCAGAGGGATGGAGGAGGCTGGATTCTTGTATCCGGGATGGGTTTTAGATGAAAATTTTAGGCCAGGCGCAGTGGCTCATGCTTGTAATCCCAGGGCATGGGAGGCTGAGGTGGGTAGATCACTTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGCGAAACCCCATGTCTACAGAAATACAAAACTTAGCCAGGCATGGTGGCAGGCGCCTATAATTCCAGCTGCTTGGGAGGCTGAGGGAGAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCCAAGATCACGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTTTGTCTCAAAAAGAAACATTTTACTCTCAGCCATGAGTAAGGAACCGAGAGCAGAGGAGTAGATGGTTTCCTTATTGCCTTCTCCTGGAAGAGTGAAGCGGATCCCACGCGGACCCCTTTGTAATTGGCAGGGGGCTTCCAGTGAAGACACTGAACCCTGAAGCCGTGGTCTGGGGCAGGGTGGTGGGAGAGGTGGGCGGGGGGGGGTGGTCCCGGCTCTGAGGTGTGTGCCCCTCCCCCCTTCCTGTCCCACCCGCTTCTCCACCCCTAGCTTCAAGAGATAGAGGAATTCAAAGAGAGGTTACGGAAGCGGCGGGAGGAGAAGCTCCTTCGCGACGCCCAGCAGAACTCCTGAGGCCTCCAAGTGGGAGTCCTAGCCCCTCCCCTGATGAAATATACATATACTCAGTTCCTTGTTATTCATTTAAGTGTTTTATTCTTTTATCAGTTTTTGGGGGCCGAGTGAGACCCAGGATGCCTCAGGCCCTCAGGGGGCTTGTGTCGGGGGCTGGGGGCTGCTGTTCCGACGGAAGCCGAGAGCGGTCGGGTCCTGAGGGGTGAGCAGGGGTTGGGGACTGAGGGTCCCAGCTCGTTTCTGTGCTCCGTCCTGTGGATGAAGAGGGGTCAGCCAGGGGGAGGGCTCAAGGGCAGTGCCGGCCACAGGTGGCGAACAATGGAGAGA
GGTCACACAGCGATGCTTCACCTGTGCCCGACGCGCCTTCAGGTATCGGTACCAGAGTTTGTAGCTGGGGAATAGGAGGGGACAGATGCTGATCGGTCAGCTTTATGGACACCCCCAGAACCATTTGCCCTGCCCCAGTTGGCAAATGTGGGAAGAAGGGGTGTGGGAGGGGTGACATGTCTCAGCAATGACAGGGACAGACTGGGACATCAGAGAAGGTGTGCTGACCCATCAAGGGATGTACAGGTCAGTGATGAAACACGAAGCAATCACCCGGGACCCGGGACCCACTTGGCAGTTTTGTTATAACTGGACCAGGTGGGGTGGGGGCTGGTGGGCAGGGCAGCTGGAGCCATTCCCACCTGCAGGGCAGCAGCTTGAGTGCCCGCTCGTATAGCTGATTGAGCCTGGGCTTCGGGGCGCCCTGTTTGAACTCGATGTAGCGAAGCCAGCATTTGACAGAGAATTGGTTCCGCATGATTTCCTCCTCATAGGGGAGGTCCTCTTCCTCCTGCCAGGGCCAGGGAATGGGAAGAAGAGAGGCCTACCCTCAGAGCCTGTGTGCAGCACCATCCCACTGCTGGGGCTCAGGTCCAAACTCCGGACTTTTACCTAGATCCCACCACCCACCAAGGAAGTCAGGTCACCAGATGCCCAGGCACCAAACCAGATGCCCGACACCAAGACAGTGGCCCAGACCTTTACCCCTCAGAATTCAACTACCCAAAATCGAACCCAAATCATCAGACTTCTCAGTCATTAGGGCTCTGGGCCAGGAATGAGTCCGCATCACCACTCGCTTTCTGCCCCAGATGGTCAGACTCCTTAGATACCAAGGCCCTGGCCCAGATGCCAGTCCTGGACACCAGACCCCACTTCTTCAAAACGTGCCTCTTCCCAGACACCAGGCCTTTGGCCCCTCAGACTCCCACTGTCACCATCTGACCCATCTCCACCCCAGGCCCAGATGACCAGATCTTTACCCCAGCCACCAGGGCTCTCAGGTCCAGATTCCAAGCCACTAGCCCCGCCCCCAGGATCCCACTAGCCAGCGTCTAGCTCAACTCTGCCCCAGAAATTAAAAGCTAGGCCTTTATCTCACAGGAGGAGTTATACACCAGAAGCCAAGCCTTTAACTCTGCACACCAAGAATCTGGTGAAGATGTCACGCCTCTACTCCAGAGAGTAAGTATTTCACTGGCCATCGCCTGACAAGCTCCACATCACCAGGGTTCTTCTAGCCTGGCCACCACCCCAGAAACTGTCATGCTGCAGTCCAGGCCTAGAGACCGCTATCCAGAAAACCAAGCCTTCATCCCAGAAACCAGAACCCTGGCCTCGTAAGCAAGCCTTTACTTCAGACACCGATCTTCACCTCTCAAGGTTCAGTTATGCGATCTTCCTCCTCTCCCATTCCCTGCACGCCCCCATTTCCGCCCCTGGTTCGGGAGGCTAGACGCTTCCCTTCGACAGTGGTTTTCTACTCAGACCCGAAGATACAACACCATATTTTTACTCCTGGACAGTTCGGTGCGGACATGACGATCCGGTCTCTGGCCCATTAGGGTTCCCAGACCTTGGCCTGGCAGTTTCGGCCTAAATCTCCTTGCCGACCCAGCCTCGATCCCCTGCGGCGTCCAGGTCCCAATGCCCCAACGCAGGCCACCCCCGGCTCCTCTGTGGACTCACGAAGACAAGGTCCGGCCGCTCGGGCCGCGAGAGTCGCGCCATCACCACCATTTTTCTGGATGCCCAGGTACAGGAGAGAGTCGCGCGCTTATGACGTCTACCACTGACGGCCCGCCCCTCCGAGCCAGACCCGTTTTCTATTGGTTAAATCATTTTTGACGGACAGGCCCACGTTATTGACTTCTTTTCGACGACGCCAGCGACCGGAAGCAGAATAGAGGCGCCAGAAGATGCGCCATCAGGATACACATTGGCCAATCAGCTTCAGCAATGGAGCGTGCAAAACACCAGTGAGCTTCTGTCTTGCTGGAGGGTCGGCTTTGGGCGGAACTGGCTTTGTTGACCGGGAGAAACGAGATCGGGGTGAAGCTGGAGATATTTCGGGTCAGTGGACACAGGAGTGGGTTGGGAGGCTGGGCAGGGGATCTTCCTGGATCTGAAGATGAGGTTGGAAATGGGGGGACTTCAAAGGAAGAGGGAGCTCCAAGGAGAAAGCTCTTAAGATTTGAGAGGAACCTTTCTGGTTGGAAATCCAGGAGAGGGGACGCTGGGCTGGGGGGGTTCTCGGATTTGGGCTTCTGGGTTTGGGGGCTGTGAGAGGGCTGGTCCGAGGAAGGACCTCAGAGAGGGGTGAGCTGAGAAGGGGGCTCTAAAGAAGGAAGACTTAAGATCCTGGGGGAGCTCTCGGGCTCGTGGTGGGTGGGTGTCTATGACAGGGAGATTCCTAGACTTCGAGAAGTGGAGTTGAAGAGTGACGCCTCCTGGGTTTGGGGGTGCTCCCGGGATCTTAAGTGGGGATGGGTAATGAGGTCTCGAGGAGATGCTTTTGATTGTAGCTGGGGCGTCTGTGTGTCTGTCTGTGTTTGAGAGGAAGACTCCAGCTCAGAGGGAACTTTCAGGAATGAGGCCTCCTGGATTATAGGAGTTAGGTTTTAGGGTGCGAGGTTTCTGTACCCTTGGTGGGAGTTCTGGGATTCTTGGGTCGGCCGTAACGAGGCGCTTCTGGACTCTGCAGTAGGATGGGTCCCCCAGGCTCTGAGGAGCCTCTGCACATTGCTTGGGGGGAGCTCACCTCACCCACCCTCTGCCATTCCAGATGATAATCTACCTCACTTTCCCTGTGGCTATGTTCTGGGTTTCCAATCAGGCCGAGTGGTTTGAGGACGATGTCATACAGCGCAAGGTGGGCATAAGAGGAGTGTTTGAGGGTTCATTCCAGGGGTGGGAGAGGGTGTGGGGCAGCAGTCTGCTGGGGACTAATGTCTGCCTCCCATAAGCCGACCCTGCCCTGATGTGGGGCTCTGGAGGCCTTTGGCTCGTGTCCCATTTGTGACTTTTCCTTACAGAGGGAGCTGTGGCCACCTGAGAAGGTAAGTGATCTCTTCTTCCTGCCAGAGGGATGGAGGAGGCTGGATTCTTGTATCCGGGATGGGTTTTAGATGAAAATTTTAGGCCAGGCGCAGTGGCTCATGCTTGTAATCCCAGGGCATGGGAGGCTGAGGTGGGTAGATCACTTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGCGAAACCCCATGTCTACAGAAATACAAAACTTAGCCAGGCATGGTGGCAGGCGCCTATAATTCCAGCTGCTTGGGAGGCTGAGGGAGAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCCAAGATCACGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACTTTGTCTCAAAAAGAAACATTTTACTCTCAGCCATGAGTAAGGAACCGAGAGCAGAGGAGTAGATGGTTTCCTTATTGCCTTCTCCTGGAAGAGTGAAGCGGATCCCACGCGGACCCCTTTGTAATTGGCAGGGGGCTTCCAGTGAAGACACTGAACCCTGAAGCCGTGGTCTGGGGCAGGGTGGTGGGAGAGGTGGGCGGGGGGGGGTGGTCCCGGCTCTGAGGTGTGTGCCCCTCCCCCCTTCCTGTCCCACCCGCTTCTCCACCCCTAGCTTCAAGAGATAGAGGAATTCAAAGAGAGGTTACGGAAGCGGCGGGAGGAGAAGCTCCTTCGCGACGCCCAGCAGAACTCCTGAGGCCTCCAAGTGGGAGTCCTAGCCCCTCCCCTGATGAAATATACATATACTCAGTTCCTTGTTATTCATTTAAGTGTTTTATTCTTTTATCAGTTTTTGGGGGCCGAGTGAGACCCAGGATGCCTCAGGCCCTCAGGGGGCTTGTGTCGGGGGCTGGGGGCTGCTGTTCCGACGGAAGCCGAGAGCGGTCGGGTCCTGAGGGGTGAGCAGGGGTTGGGGACTGAGGGTCCCAGCTCGTTTCTGTGCTCCGTCCTGTGGATGAAGAGGGGTCAGCCAGGGGGAGGGCTCAAGGGCAGTGCCGGCCACAGGTGGCGAACAATGGAGAGA
Task1_train_26390
Here is a mutation in STXBP2 (syntaxin binding protein 2) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE
TGCGTCTGTGTGTGCATTTGTGTGTATGTGTGTATGCGTGTGTGTCTGTGGGTCTGTGTGTGCATTTGTGTCTGTGCATGTGTGTATGCGTGTGTATGTATGTGTGTGTGCATCTGTGTGCATCTGTATGTGTGTGTGTGCGTCTGTCTGTGTGCATGTGTGTATGCGTGTGTATGTATGTGTCTGCGTCTGTGTGTGCGTCTGTGTGTATCTGTGTGTGCATGTGTGTATGCGTGTATATGTATGTGCATCTGTGTGCATGTGTCTATGTATGTGTGTGCATCTGTGTGTGCGTGTGTATGCGTGTGTGTATGCGTCTGTGCATGTGTGTATGCGTGTGTGTGCGCATCAGTGTCTGCATGTGTGTATATGTGTGTATGTATGTGTGCGCGCGCATCTGTGTGTGTGCATGTGTGTATGTATGTGTGTGCATCTCTGTGTGTGCATGTGTGTATGTGTGTGTGCATCTGTGTGTGTGTGCATGTGTGCATGCGTGTGTATGTGTGTGTGCGTGCGTGCATCTGTGTGTGTGCGCGTGTGCCCATGTGGGTGCGACACTAGTGTGCATTTGCACATATACATGTCCCCGTCCGTCCATGTTTGCACATGGTGGCAGATGGGGGGTGGCTGGGAGGCCTAGGCAGCCAATGAGCCTAGGTGTGCAGGCTCAGGCCCAGAGAGTGATCCACCTTCCCCAGTCGGTTCAGGCCCTGATCAAAGACTTCCAGGGGACCCCGACTTTCACCTACAAAGCGGCCCATATCTTCTTCACCGACAGTGAGTGAGGAGAGCCTAGGGTGTTGGTGGGTGGGGCAAGGAGGTGTGGGGGCTGCTCTGGCCTGATGCCCCACTCCTGCCTCACCCCAGCCTGCCCCGAGCCCCTGTTCAGTGAGCTAGGCCGCTCTCGTCTGGCAAAGGTGGTGAAGACGTTGAAGGAGATTCACCTTGCCTTCCTCCCCTACGAGGCCCAGGTACGGCCCGGGCTCATCCTGGGCAGGGGGTGGGGGTTTGTGACCAAATGTCCCCTGTTCCCTCAGAAACAGACACTGAGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCGCTGTGGGAGGCCAGGGCAGGAGGATCACTTGGGGCCAGGAGTTTGAGACCAGCCTGGGTACAGAGCAAGACCCCGTCTCTTAAAAAAAGAAAAAGAAAGAAATTAGCTTGGCGTGGTGGCGTGCACCTGTAGTCCTAGCTACTCATGGGGCTGGGGTGGGAGAGTCGCTTGAGCCCGGGAGGTCGAGGCTGCAGTGAGCTATGATTGCACTGCTGCCCTCCAGCCTGGGCGACAGAGCGAGATCCTGTCTCAAAAACATACATAAAGTAAAATTTTAAAAAGGGGAGGTACCCACAGAGTCCAAGGAGCTCTTGCCTTGAGTTCTATCCCACTAGGCCCTTGCAGGGGGCAGCGTAGAGCGCACCGCGGGGTTGTCCAGCCAGCTTAAGGGACACGGGCTGGGGTATTTATCCACTGACTCCTGCAGGCATGGGTTTAGGGTTGACCTGGGCCTGCCTCCAATTCGGCAAAGCAGGCTTCAGGGACCAGGGACGGCTCCCAGGAGGTGCAGGTGGCGGCAGCGGGAAGCGGGGCAGGTGTGCACCTGCAGCGGCAACCCTGGTGCTTCTGTCCCCTCCTCGCCCAGGTGTTCTCCCTCGATGCTCCCCACAGCACCTACAACCTCTACTGCCCCTTCCGGGCAGAGGAGCGCACGCGGCAGCTCGAGGTGCTGGCCCAGCAGATTGCCACGCTGTGCGCCACCCTGCAGGAGTACCCGGCCATCCGCTACCGCAAGTGGGGACCCCACCCAGCCCCACCCCGATGCCGACCCCCCCTTAACCGCGTGCAACACCTAACCTTTAACCTCTCTTGTGACCCCAGCCCCGGCCCTACCCTGGCCCCTGACTCTCACCTTCAAACCCATCCTTGACCCCATCCCCTGATGATGTCCCCCGTGTCTGACCTCCCCGCCAGGGGCCCAGAGGACACAGCCCAGTTGGCCCACGCCGTCCTGGCCAAGCTGAACGCCTTCAAGGCAGACACTCCCAGTCTGGGCGAGGTGAGGGGGCGTGCTTGGGAGGTGAGGGGCAGCCCCAACCGGCTCAGGGTCAGTGCCTCATTCCTGCCCTAAACCCCACCCCAGGGCCCAGAGAAAACCCGCTCCCAGCTGCTGATAATGGACCGGGCAGCTGACCCCGTGTCCCCACTACTGCATGAGCTCACGTTCCAGGCCATGGCGTATGATCTGCTGGACATAGAGCAGGACACATACAGGTCTGCAGACTTGGAACCCGTCCCCACCCTTGCCACTGACCTGGTTCCCCAGTCCTCAGCTCCCCTGACCCCCAGGCTCCCTCCTTCCTCCCCAGGTATGAGACCACCGGGCTGAGCGAGGCGCGGGAGAAGGCCGTCTTGCTGGACGAGGACGATGACTTGTGGGTGGAGCTTCGCCACATGCATATCGCAGATGTGTCCAAGTGCGTGCACACGGGGACCGGATCCCCCCCCCACCGCCCACTGTGGGCCTGGTAGCGGCCTTGGGATCCCTGGCTGCTGCCAAGTCTTTGGCCCTCATGAGCACCCCTCGTGTGACTCCAGACTGGCCTCCAATTTCACCCCACCTCTCCCTGTCCCCCCTGAGTGGGCTCACCCATGGCCTGTGGCTCCTCTCCCCTCACTCTCACCCCCGCCCACCCTCATGGCCAGGAAGGTCACGGAGCTCCTGAGGACCTTCTGTGAGAGCAAGAGGCTGACCACGGACAAGGTAGGGGCGGACCCAGGTCACCAAAGGCGCTGGTGGAAGGAAGCCCCCCTCCCCATGGGCGCAGGGCCACAGCCTGGATTTCGAGCCTGGACTGAGACCCAGGTGGGCACTGCCTGGCTTCGCCCCCCAATCCCTACCCTCTTCCCCCTACTTCCCCAGGCGAACATCAAAGACCTATCCCAGATCCTGAAAAAGATGCCGCAGTACCAGAAGGAGCTGAATAAGGTGTGCTCGGGTGGGCAGGGAGCGGGGACACCTCGGCCCCTCAACCCCATGCTCTGTCTGCGTTCTGCCTTGACTCAGCCTTTGTTATCCCCCAACCCCCACCCTGCACCCTGCAGTATTCTACGCACCTGCATCTAGCAGATGATTGTATGAAGCACTTCAAGGGCTCGGTGGAGAAGCTGTGTAGTGTGGAGCAGGTGGGGCAGGGCTTGCGGGGGGCAGGGGTGATGGTCCTGCCAAGGCGGGGTATTGGGGAGGGGCTGAACTGTAGAGATGGGGGGTTCTGGGGGAGGGGCAGGGCTTGTGGAGAGGTGGAGGGGCCTTGGAGAGAGGTGGGACCTGGTGGGGAAGGAGTGGGTCTTGTGGAGAAACGGTCCTAGGATGAGGGTGTGGCCTGTGCATAGGTGGATGGGGCTTGGAGAGGTCAGACTTGGGTGAGGGGCAGAGCCTTGGACAGGTGGTCCCAGGACAGGAATGTGGCCTATTCATAGGTGGGTGGGACCTTGGAGAGGTAGGCAGGGCCTTGGAGAGGTGCGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCAGAGCCTTGGAGAGGTGGGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGCCCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTTGGAGAGGTGGGACCTGGATGAGGGGTGGAACCTTGGAGGGGTGGGACCTGGGAGAGGGGTGGAGCCTTAAGAGAGGTGGGACCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGAGTGAGGGGTGGGGCCTTGGAGAGGTAGGAGCTGGGAGACAGGTAGAGCCATGGAGAGGTGGGATCTGGGTGAGGCACGGGGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGG
TGCGTCTGTGTGTGCATTTGTGTGTATGTGTGTATGCGTGTGTGTCTGTGGGTCTGTGTGTGCATTTGTGTCTGTGCATGTGTGTATGCGTGTGTATGTATGTGTGTGTGCATCTGTGTGCATCTGTATGTGTGTGTGTGCGTCTGTCTGTGTGCATGTGTGTATGCGTGTGTATGTATGTGTCTGCGTCTGTGTGTGCGTCTGTGTGTATCTGTGTGTGCATGTGTGTATGCGTGTATATGTATGTGCATCTGTGTGCATGTGTCTATGTATGTGTGTGCATCTGTGTGTGCGTGTGTATGCGTGTGTGTATGCGTCTGTGCATGTGTGTATGCGTGTGTGTGCGCATCAGTGTCTGCATGTGTGTATATGTGTGTATGTATGTGTGCGCGCGCATCTGTGTGTGTGCATGTGTGTATGTATGTGTGTGCATCTCTGTGTGTGCATGTGTGTATGTGTGTGTGCATCTGTGTGTGTGTGCATGTGTGCATGCGTGTGTATGTGTGTGTGCGTGCGTGCATCTGTGTGTGTGCGCGTGTGCCCATGTGGGTGCGACACTAGTGTGCATTTGCACATATACATGTCCCCGTCCGTCCATGTTTGCACATGGTGGCAGATGGGGGGTGGCTGGGAGGCCTAGGCAGCCAATGAGCCTAGGTGTGCAGGCTCAGGCCCAGAGAGTGATCCACCTTCCCCAGTCGGTTCAGGCCCTGATCAAAGACTTCCAGGGGACCCCGACTTTCACCTACAAAGCGGCCCATATCTTCTTCACCGACAGTGAGTGAGGAGAGCCTAGGGTGTTGGTGGGTGGGGCAAGGAGGTGTGGGGGCTGCTCTGGCCTGATGCCCCACTCCTGCCTCACCCCAGCCTGCCCCGAGCCCCTGTTCAGTGAGCTAGGCCGCTCTCGTCTGGCAAAGGTGGTGAAGACGTTGAAGGAGATTCACCTTGCCTTCCTCCCCTACGAGGCCCAGGTACGGCCCGGGCTCATCCTGGGCAGGGGGTGGGGGTTTGTGACCAAATGTCCCCTGTTCCCTCAGAAACAGACACTGAGGCTGGGCGCAGTGGCTCATACCTGTAATCCCAGCGCTGTGGGAGGCCAGGGCAGGAGGATCACTTGGGGCCAGGAGTTTGAGACCAGCCTGGGTACAGAGCAAGACCCCGTCTCTTAAAAAAAGAAAAAGAAAGAAATTAGCTTGGCGTGGTGGCGTGCACCTGTAGTCCTAGCTACTCATGGGGCTGGGGTGGGAGAGTCGCTTGAGCCCGGGAGGTCGAGGCTGCAGTGAGCTATGATTGCACTGCTGCCCTCCAGCCTGGGCGACAGAGCGAGATCCTGTCTCAAAAACATACATAAAGTAAAATTTTAAAAAGGGGAGGTACCCACAGAGTCCAAGGAGCTCTTGCCTTGAGTTCTATCCCACTAGGCCCTTGCAGGGGGCAGCGTAGAGCGCACCGCGGGGTTGTCCAGCCAGCTTAAGGGACACGGGCTGGGGTATTTATCCACTGACTCCTGCAGGCATGGGTTTAGGGTTGACCTGGGCCTGCCTCCAATTCGGCAAAGCAGGCTTCAGGGACCAGGGACGGCTCCCAGGAGGTGCAGGTGGCGGCAGCGGGAAGCGGGGCAGGTGTGCACCTGCAGCGGCAACCCTGGTGCTTCTGTCCCCTCCTCGCCCAGGTGTTCTCCCTCGATGCTCCCCACAGCACCTACAACCTCTACTGCCCCTTCCGGGCAGAGGAGCGCACGCGGCAGCTCGAGGTGCTGGCCCAGCAGATTGCCACGCTGTGCGCCACCCTGCAGGAGTACCCGGCCATCCGCTACCGCAAGTGGGGACCCCACCCAGCCCCACCCCGATGCCGACCCCCCCTTAACCGCGTGCAACACCTAACCTTTAACCTCTCTTGTGACCCCAGCCCCGGCCCTACCCTGGCCCCTGACTCTCACCTTCAAACCCATCCTTGACCCCATCCCCTGATGATGTCCCCCGTGTCTGACCTCCCCGCCAGGGGCCCAGAGGACACAGCCCAGTTGGCCCACGCCGTCCTGGCCAAGCCGAACGCCTTCAAGGCAGACACTCCCAGTCTGGGCGAGGTGAGGGGGCGTGCTTGGGAGGTGAGGGGCAGCCCCAACCGGCTCAGGGTCAGTGCCTCATTCCTGCCCTAAACCCCACCCCAGGGCCCAGAGAAAACCCGCTCCCAGCTGCTGATAATGGACCGGGCAGCTGACCCCGTGTCCCCACTACTGCATGAGCTCACGTTCCAGGCCATGGCGTATGATCTGCTGGACATAGAGCAGGACACATACAGGTCTGCAGACTTGGAACCCGTCCCCACCCTTGCCACTGACCTGGTTCCCCAGTCCTCAGCTCCCCTGACCCCCAGGCTCCCTCCTTCCTCCCCAGGTATGAGACCACCGGGCTGAGCGAGGCGCGGGAGAAGGCCGTCTTGCTGGACGAGGACGATGACTTGTGGGTGGAGCTTCGCCACATGCATATCGCAGATGTGTCCAAGTGCGTGCACACGGGGACCGGATCCCCCCCCCACCGCCCACTGTGGGCCTGGTAGCGGCCTTGGGATCCCTGGCTGCTGCCAAGTCTTTGGCCCTCATGAGCACCCCTCGTGTGACTCCAGACTGGCCTCCAATTTCACCCCACCTCTCCCTGTCCCCCCTGAGTGGGCTCACCCATGGCCTGTGGCTCCTCTCCCCTCACTCTCACCCCCGCCCACCCTCATGGCCAGGAAGGTCACGGAGCTCCTGAGGACCTTCTGTGAGAGCAAGAGGCTGACCACGGACAAGGTAGGGGCGGACCCAGGTCACCAAAGGCGCTGGTGGAAGGAAGCCCCCCTCCCCATGGGCGCAGGGCCACAGCCTGGATTTCGAGCCTGGACTGAGACCCAGGTGGGCACTGCCTGGCTTCGCCCCCCAATCCCTACCCTCTTCCCCCTACTTCCCCAGGCGAACATCAAAGACCTATCCCAGATCCTGAAAAAGATGCCGCAGTACCAGAAGGAGCTGAATAAGGTGTGCTCGGGTGGGCAGGGAGCGGGGACACCTCGGCCCCTCAACCCCATGCTCTGTCTGCGTTCTGCCTTGACTCAGCCTTTGTTATCCCCCAACCCCCACCCTGCACCCTGCAGTATTCTACGCACCTGCATCTAGCAGATGATTGTATGAAGCACTTCAAGGGCTCGGTGGAGAAGCTGTGTAGTGTGGAGCAGGTGGGGCAGGGCTTGCGGGGGGCAGGGGTGATGGTCCTGCCAAGGCGGGGTATTGGGGAGGGGCTGAACTGTAGAGATGGGGGGTTCTGGGGGAGGGGCAGGGCTTGTGGAGAGGTGGAGGGGCCTTGGAGAGAGGTGGGACCTGGTGGGGAAGGAGTGGGTCTTGTGGAGAAACGGTCCTAGGATGAGGGTGTGGCCTGTGCATAGGTGGATGGGGCTTGGAGAGGTCAGACTTGGGTGAGGGGCAGAGCCTTGGACAGGTGGTCCCAGGACAGGAATGTGGCCTATTCATAGGTGGGTGGGACCTTGGAGAGGTAGGCAGGGCCTTGGAGAGGTGCGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCAGAGCCTTGGAGAGGTGGGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGCCCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTTGGAGAGGTGGGACCTGGATGAGGGGTGGAACCTTGGAGGGGTGGGACCTGGGAGAGGGGTGGAGCCTTAAGAGAGGTGGGACCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGAGTGAGGGGTGGGGCCTTGGAGAGGTAGGAGCTGGGAGACAGGTAGAGCCATGGAGAGGTGGGATCTGGGTGAGGCACGGGGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGG
Task1_train_26391
The gene STXBP2 (syntaxin binding protein 2) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Familial hemophagocytic lymphohistiocytosis 5
TTCACCCCACCTCTCCCTGTCCCCCCTGAGTGGGCTCACCCATGGCCTGTGGCTCCTCTCCCCTCACTCTCACCCCCGCCCACCCTCATGGCCAGGAAGGTCACGGAGCTCCTGAGGACCTTCTGTGAGAGCAAGAGGCTGACCACGGACAAGGTAGGGGCGGACCCAGGTCACCAAAGGCGCTGGTGGAAGGAAGCCCCCCTCCCCATGGGCGCAGGGCCACAGCCTGGATTTCGAGCCTGGACTGAGACCCAGGTGGGCACTGCCTGGCTTCGCCCCCCAATCCCTACCCTCTTCCCCCTACTTCCCCAGGCGAACATCAAAGACCTATCCCAGATCCTGAAAAAGATGCCGCAGTACCAGAAGGAGCTGAATAAGGTGTGCTCGGGTGGGCAGGGAGCGGGGACACCTCGGCCCCTCAACCCCATGCTCTGTCTGCGTTCTGCCTTGACTCAGCCTTTGTTATCCCCCAACCCCCACCCTGCACCCTGCAGTATTCTACGCACCTGCATCTAGCAGATGATTGTATGAAGCACTTCAAGGGCTCGGTGGAGAAGCTGTGTAGTGTGGAGCAGGTGGGGCAGGGCTTGCGGGGGGCAGGGGTGATGGTCCTGCCAAGGCGGGGTATTGGGGAGGGGCTGAACTGTAGAGATGGGGGGTTCTGGGGGAGGGGCAGGGCTTGTGGAGAGGTGGAGGGGCCTTGGAGAGAGGTGGGACCTGGTGGGGAAGGAGTGGGTCTTGTGGAGAAACGGTCCTAGGATGAGGGTGTGGCCTGTGCATAGGTGGATGGGGCTTGGAGAGGTCAGACTTGGGTGAGGGGCAGAGCCTTGGACAGGTGGTCCCAGGACAGGAATGTGGCCTATTCATAGGTGGGTGGGACCTTGGAGAGGTAGGCAGGGCCTTGGAGAGGTGCGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCAGAGCCTTGGAGAGGTGGGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGCCCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTTGGAGAGGTGGGACCTGGATGAGGGGTGGAACCTTGGAGGGGTGGGACCTGGGAGAGGGGTGGAGCCTTAAGAGAGGTGGGACCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGAGTGAGGGGTGGGGCCTTGGAGAGGTAGGAGCTGGGAGACAGGTAGAGCCATGGAGAGGTGGGATCTGGGTGAGGCACGGGGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACTTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTCGGAGAGGTGGGACCTGGGTGAGGTGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTCGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTAGTCTCAGGATAGTGGTGTGACCTGTGTGTAGGTGGGTGGGGCACTGGAAAGGTGGGACCTGGGTGAGGAGCAGGGCCTGTGGAGAGACTGTCCCTGGACAGGGGTGGGACCTTGAGAGACCTGGTGCTGAGATGAGGTAGGACCCAAATGTCCTCTTGCCGAGGATCCTGGGGATGTCCTTGGCCCGCCTCTCCCATCCCCTTCCCTGACACATAGCGGCCGGTGGACGGCTGACCCCATGCCCGCAGGACCTGGCCATGGGCTCCGACGCAGAGGGGGAGAAGATCAAGGACTCCATGAAGCTGATCGTTCCGGTGCTGCTGGACGCGGCGGTGCCCGCCTACGACAAGATCCGGGTCCTGCTGCTCTACATCCTCCTTCGGAATGGTGGGTGGGGGCTGCAGGGAGTTGGAACGTCCCCATTTGCCAGCGTCTCCCACGATCCTGGGAACTGCTGAACCCCACAGCTCTCCTTGGGTCATTTGCACTCACCGGGCTCACCAACCCCCACAGCTACCCCTCTGGACCCGGGAACCCTCCTCCATTGGCTTGGGGATTCCTCCACTGAGGTGAGGGCTCCCTGCTAACGTAGAAACCCTCACATCTGTGATTCCTATAGATGTGGGGCTCCCTCAGCTCATCTGGAGGAGCCCCTGATCTACCCCCTCCAGGTTTCCCACTCTTGCTCACACTAGCACAGGGTACTGAGGCCCTCCCCACTGCAAGGTTCTCTCATCAGAGTCCTGGGAGCTCCTCAGCCCACCCCAAACTCCCCTAAACCTGGGAGCTCACCTGGCCGCCGCCTCCACCCTGCCCATTCCCGTCCCCCAGGTGTGAGTGAGGAGAACCTGGCCAAGCTGATCCAGCATGCCAATGTACAGGCGCACAGCAGCCTCATCCGTAACCTGGAGCAGCTGGGAGGCACTGTCACCAACCCCGGGGTACGCCAGGAGCGGGCATGGGGGGACCCTGGGAGAGGGTGCGGATCACAGCCGGGGCTCTGCAAGGCAGAGGGCCATTGGTGCACAGGCACGGTGTGGTTCCTGGCGTGGTGTGGTTGCTGGGAGGCCAAAAGCAGTGTTTCGGGTCTGGTCTGGGGCCCAGAGGACACTGGGGCCTCTCCCAGTCCCAGCTTACACAATAGGCAGGGGAAGTGAGACATGGTCGCTGCCAGGCTGGTCCTGGCAGTGGTGCAGTTGGGAGCGGGTGGTCTGAGTGCTAGAGGCAGGGAGTAGGGTCCCCAGCATGGGGGCTACACCACATTGTCTATCTGGGCTCCCAGGGGTCTCTGAGGGTCCCCCGCACCCATCCAGCACCCACACACAGCCATGTGTGTGCTTGACTCTTGGGTCAGCCTCTCCTGTCTCTCTCTGGCCCTGTGCGTCCCCCTCCAGGGTGCCCTCACCCCGTCCCCATCTCTCCCCCATCCCTCATCCATCTCGCTGTGCACTGTTTCTCCATATCTCTCTCTCTCACCCTTCTCTCTGCCTTCCCCTTTCTCTCTGTTCTCTGTCTTGCTCCCCTCCCCTCTCCGTCCCCCTTCTGTCCCCATCTTCCTCTCTCTGTTTCCTGCTTCATCTCTTGTCTCTCTCTTTGCCTTCATACTTTGTCTCACTGCTTCTTATCTCTTTGCCTATCTCTGCCTCTGTCTTTGTCTTTCTCTGGCTCGCTCTCTCTCCCTTTGGCTTTCTCTCTCCGTCTCTCTCTGGCTCACTGTTTCTCTCTCTCGCTTTCTTGCTGTCTCTCGCTCTCTCTCGCTCTCTGTTCCACTTCCCCATCTTTGCCTGCCATCCCCCACCCTACCAGCCACACCAGGCGCAGCCCCTCTGTGACCAGCCTCCTTCCCCTCAATCCCCCTGCTGCCCTCCCTGCCCTGCCTGTAGGGCTCGGGGACCTCCAGCCGGCTGGAGCCGAGAGAACGCATGGAGCCCACCTATCAGCTGTCCCGCTGGACCCCGGTCATCAAGGATGTAATGGAGGTACTGGGTGGCAGGTCAGGGTGGGGGCCAGCCCTCCGCATCGGCTGGCGGCTCAGCCTCCCTCCTGCTGAGGTGCTAAGCCTCAGGGCTTAGGGGAAAATGCTCATTGCTGGCATTCCCTTGGCACCGATCTGCTCTGCTGAGGGGGGCACGCCAAGCCCGCAGCTGAGGAATTGGGGTGACAGCGGGGCCTGTGCTGGGGAGCCTCACTTCCTCCCCACCTGCCGGCTGCCTCCGCTATATCTCTCTAGTCTGTTCCCCTGTCCCGCAGGAGTGCCCCTGAGCCCCAGCCCTGGCCTTCCCAGGATCCCAGGGCAGCACCATCCAATGGCAATGGGCCTGGGGCGGCTTCCTGGCTTCCTCCTTGTCCCTCTAAGAGCCCCGGCCCCTCTTTCTGCGTGGGGGCCAGAGACCTGGGCCTC
TTCACCCCACCTCTCCCTGTCCCCCCTGAGTGGGCTCACCCATGGCCTGTGGCTCCTCTCCCCTCACTCTCACCCCCGCCCACCCTCATGGCCAGGAAGGTCACGGAGCTCCTGAGGACCTTCTGTGAGAGCAAGAGGCTGACCACGGACAAGGTAGGGGCGGACCCAGGTCACCAAAGGCGCTGGTGGAAGGAAGCCCCCCTCCCCATGGGCGCAGGGCCACAGCCTGGATTTCGAGCCTGGACTGAGACCCAGGTGGGCACTGCCTGGCTTCGCCCCCCAATCCCTACCCTCTTCCCCCTACTTCCCCAGGCGAACATCAAAGACCTATCCCAGATCCTGAAAAAGATGCCGCAGTACCAGAAGGAGCTGAATAAGGTGTGCTCGGGTGGGCAGGGAGCGGGGACACCTCGGCCCCTCAACCCCATGCTCTGTCTGCGTTCTGCCTTGACTCAGCCTTTGTTATCCCCCAACCCCCACCCTGCACCCTGCAGTATTCTACGCACCTGCATCTAGCAGATGATTGTATGAAGCACTTCAAGGGCTCGGTGGAGAAGCTGTGTAGTGTGGAGCAGGTGGGGCAGGGCTTGCGGGGGGCAGGGGTGATGGTCCTGCCAAGGCGGGGTATTGGGGAGGGGCTGAACTGTAGAGATGGGGGGTTCTGGGGGAGGGGCAGGGCTTGTGGAGAGGTGGAGGGGCCTTGGAGAGAGGTGGGACCTGGTGGGGAAGGAGTGGGTCTTGTGGAGAAACGGTCCTAGGATGAGGGTGTGGCCTGTGCATAGGTGGATGGGGCTTGGAGAGGTCAGACTTGGGTGAGGGGCAGAGCCTTGGACAGGTGGTCCCAGGACAGGAATGTGGCCTATTCATAGGTGGGTGGGACCTTGGAGAGGTAGGCAGGGCCTTGGAGAGGTGCGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCAGAGCCTTGGAGAGGTGGGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGCCCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTTGGAGAGGTGGGACCTGGATGAGGGGTGGAACCTTGGAGGGGTGGGACCTGGGAGAGGGGTGGAGCCTTAAGAGAGGTGGGACCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGAGTGAGGGGTGGGGCCTTGGAGAGGTAGGAGCTGGGAGACAGGTAGAGCCATGGAGAGGTGGGATCTGGGTGAGGCACGGGGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACTTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTCGGAGAGGTGGGACCTGGGTGAGGTGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTCGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTAGTCTCAGGATAGTGGTGTGACCTGTGTGTAGGTGGGTGGGGCACTGGAAAGGTGGGACCTGGGTGAGGAGCAGGGCCTGTGGAGAGACTGTCCCTGGACAGGGGTGGGACCTTGAGAGACCTGGTGCTGAGATGAGGTAGGACCCAAATGTCCTCTTGCCGAGGATCCTGGGGATGTCCTTGGCCCGCCTCTCCCATCCCCTTCCCTGACACATAGCGGCCGGTGGACGGCTGACCCCATGCCCGCAGGACCTGGCCATGGGCTCCGACGCAGAGGGGGAGAAGATCAAGGACTCCATGAAGCTGATCGTTCCGGTGCTGCTGGACGCGGCGGTGCCCGCCTACGACAAGATCTGGGTCCTGCTGCTCTACATCCTCCTTCGGAATGGTGGGTGGGGGCTGCAGGGAGTTGGAACGTCCCCATTTGCCAGCGTCTCCCACGATCCTGGGAACTGCTGAACCCCACAGCTCTCCTTGGGTCATTTGCACTCACCGGGCTCACCAACCCCCACAGCTACCCCTCTGGACCCGGGAACCCTCCTCCATTGGCTTGGGGATTCCTCCACTGAGGTGAGGGCTCCCTGCTAACGTAGAAACCCTCACATCTGTGATTCCTATAGATGTGGGGCTCCCTCAGCTCATCTGGAGGAGCCCCTGATCTACCCCCTCCAGGTTTCCCACTCTTGCTCACACTAGCACAGGGTACTGAGGCCCTCCCCACTGCAAGGTTCTCTCATCAGAGTCCTGGGAGCTCCTCAGCCCACCCCAAACTCCCCTAAACCTGGGAGCTCACCTGGCCGCCGCCTCCACCCTGCCCATTCCCGTCCCCCAGGTGTGAGTGAGGAGAACCTGGCCAAGCTGATCCAGCATGCCAATGTACAGGCGCACAGCAGCCTCATCCGTAACCTGGAGCAGCTGGGAGGCACTGTCACCAACCCCGGGGTACGCCAGGAGCGGGCATGGGGGGACCCTGGGAGAGGGTGCGGATCACAGCCGGGGCTCTGCAAGGCAGAGGGCCATTGGTGCACAGGCACGGTGTGGTTCCTGGCGTGGTGTGGTTGCTGGGAGGCCAAAAGCAGTGTTTCGGGTCTGGTCTGGGGCCCAGAGGACACTGGGGCCTCTCCCAGTCCCAGCTTACACAATAGGCAGGGGAAGTGAGACATGGTCGCTGCCAGGCTGGTCCTGGCAGTGGTGCAGTTGGGAGCGGGTGGTCTGAGTGCTAGAGGCAGGGAGTAGGGTCCCCAGCATGGGGGCTACACCACATTGTCTATCTGGGCTCCCAGGGGTCTCTGAGGGTCCCCCGCACCCATCCAGCACCCACACACAGCCATGTGTGTGCTTGACTCTTGGGTCAGCCTCTCCTGTCTCTCTCTGGCCCTGTGCGTCCCCCTCCAGGGTGCCCTCACCCCGTCCCCATCTCTCCCCCATCCCTCATCCATCTCGCTGTGCACTGTTTCTCCATATCTCTCTCTCTCACCCTTCTCTCTGCCTTCCCCTTTCTCTCTGTTCTCTGTCTTGCTCCCCTCCCCTCTCCGTCCCCCTTCTGTCCCCATCTTCCTCTCTCTGTTTCCTGCTTCATCTCTTGTCTCTCTCTTTGCCTTCATACTTTGTCTCACTGCTTCTTATCTCTTTGCCTATCTCTGCCTCTGTCTTTGTCTTTCTCTGGCTCGCTCTCTCTCCCTTTGGCTTTCTCTCTCCGTCTCTCTCTGGCTCACTGTTTCTCTCTCTCGCTTTCTTGCTGTCTCTCGCTCTCTCTCGCTCTCTGTTCCACTTCCCCATCTTTGCCTGCCATCCCCCACCCTACCAGCCACACCAGGCGCAGCCCCTCTGTGACCAGCCTCCTTCCCCTCAATCCCCCTGCTGCCCTCCCTGCCCTGCCTGTAGGGCTCGGGGACCTCCAGCCGGCTGGAGCCGAGAGAACGCATGGAGCCCACCTATCAGCTGTCCCGCTGGACCCCGGTCATCAAGGATGTAATGGAGGTACTGGGTGGCAGGTCAGGGTGGGGGCCAGCCCTCCGCATCGGCTGGCGGCTCAGCCTCCCTCCTGCTGAGGTGCTAAGCCTCAGGGCTTAGGGGAAAATGCTCATTGCTGGCATTCCCTTGGCACCGATCTGCTCTGCTGAGGGGGGCACGCCAAGCCCGCAGCTGAGGAATTGGGGTGACAGCGGGGCCTGTGCTGGGGAGCCTCACTTCCTCCCCACCTGCCGGCTGCCTCCGCTATATCTCTCTAGTCTGTTCCCCTGTCCCGCAGGAGTGCCCCTGAGCCCCAGCCCTGGCCTTCCCAGGATCCCAGGGCAGCACCATCCAATGGCAATGGGCCTGGGGCGGCTTCCTGGCTTCCTCCTTGTCCCTCTAAGAGCCCCGGCCCCTCTTTCTGCGTGGGGGCCAGAGACCTGGGCCTC
Task1_train_26392
This alteration in STXBP2 (syntaxin binding protein 2) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Familial hemophagocytic lymphohistiocytosis
TCACCCCACCTCTCCCTGTCCCCCCTGAGTGGGCTCACCCATGGCCTGTGGCTCCTCTCCCCTCACTCTCACCCCCGCCCACCCTCATGGCCAGGAAGGTCACGGAGCTCCTGAGGACCTTCTGTGAGAGCAAGAGGCTGACCACGGACAAGGTAGGGGCGGACCCAGGTCACCAAAGGCGCTGGTGGAAGGAAGCCCCCCTCCCCATGGGCGCAGGGCCACAGCCTGGATTTCGAGCCTGGACTGAGACCCAGGTGGGCACTGCCTGGCTTCGCCCCCCAATCCCTACCCTCTTCCCCCTACTTCCCCAGGCGAACATCAAAGACCTATCCCAGATCCTGAAAAAGATGCCGCAGTACCAGAAGGAGCTGAATAAGGTGTGCTCGGGTGGGCAGGGAGCGGGGACACCTCGGCCCCTCAACCCCATGCTCTGTCTGCGTTCTGCCTTGACTCAGCCTTTGTTATCCCCCAACCCCCACCCTGCACCCTGCAGTATTCTACGCACCTGCATCTAGCAGATGATTGTATGAAGCACTTCAAGGGCTCGGTGGAGAAGCTGTGTAGTGTGGAGCAGGTGGGGCAGGGCTTGCGGGGGGCAGGGGTGATGGTCCTGCCAAGGCGGGGTATTGGGGAGGGGCTGAACTGTAGAGATGGGGGGTTCTGGGGGAGGGGCAGGGCTTGTGGAGAGGTGGAGGGGCCTTGGAGAGAGGTGGGACCTGGTGGGGAAGGAGTGGGTCTTGTGGAGAAACGGTCCTAGGATGAGGGTGTGGCCTGTGCATAGGTGGATGGGGCTTGGAGAGGTCAGACTTGGGTGAGGGGCAGAGCCTTGGACAGGTGGTCCCAGGACAGGAATGTGGCCTATTCATAGGTGGGTGGGACCTTGGAGAGGTAGGCAGGGCCTTGGAGAGGTGCGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCAGAGCCTTGGAGAGGTGGGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGCCCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTTGGAGAGGTGGGACCTGGATGAGGGGTGGAACCTTGGAGGGGTGGGACCTGGGAGAGGGGTGGAGCCTTAAGAGAGGTGGGACCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGAGTGAGGGGTGGGGCCTTGGAGAGGTAGGAGCTGGGAGACAGGTAGAGCCATGGAGAGGTGGGATCTGGGTGAGGCACGGGGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACTTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTCGGAGAGGTGGGACCTGGGTGAGGTGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTCGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTAGTCTCAGGATAGTGGTGTGACCTGTGTGTAGGTGGGTGGGGCACTGGAAAGGTGGGACCTGGGTGAGGAGCAGGGCCTGTGGAGAGACTGTCCCTGGACAGGGGTGGGACCTTGAGAGACCTGGTGCTGAGATGAGGTAGGACCCAAATGTCCTCTTGCCGAGGATCCTGGGGATGTCCTTGGCCCGCCTCTCCCATCCCCTTCCCTGACACATAGCGGCCGGTGGACGGCTGACCCCATGCCCGCAGGACCTGGCCATGGGCTCCGACGCAGAGGGGGAGAAGATCAAGGACTCCATGAAGCTGATCGTTCCGGTGCTGCTGGACGCGGCGGTGCCCGCCTACGACAAGATCCGGGTCCTGCTGCTCTACATCCTCCTTCGGAATGGTGGGTGGGGGCTGCAGGGAGTTGGAACGTCCCCATTTGCCAGCGTCTCCCACGATCCTGGGAACTGCTGAACCCCACAGCTCTCCTTGGGTCATTTGCACTCACCGGGCTCACCAACCCCCACAGCTACCCCTCTGGACCCGGGAACCCTCCTCCATTGGCTTGGGGATTCCTCCACTGAGGTGAGGGCTCCCTGCTAACGTAGAAACCCTCACATCTGTGATTCCTATAGATGTGGGGCTCCCTCAGCTCATCTGGAGGAGCCCCTGATCTACCCCCTCCAGGTTTCCCACTCTTGCTCACACTAGCACAGGGTACTGAGGCCCTCCCCACTGCAAGGTTCTCTCATCAGAGTCCTGGGAGCTCCTCAGCCCACCCCAAACTCCCCTAAACCTGGGAGCTCACCTGGCCGCCGCCTCCACCCTGCCCATTCCCGTCCCCCAGGTGTGAGTGAGGAGAACCTGGCCAAGCTGATCCAGCATGCCAATGTACAGGCGCACAGCAGCCTCATCCGTAACCTGGAGCAGCTGGGAGGCACTGTCACCAACCCCGGGGTACGCCAGGAGCGGGCATGGGGGGACCCTGGGAGAGGGTGCGGATCACAGCCGGGGCTCTGCAAGGCAGAGGGCCATTGGTGCACAGGCACGGTGTGGTTCCTGGCGTGGTGTGGTTGCTGGGAGGCCAAAAGCAGTGTTTCGGGTCTGGTCTGGGGCCCAGAGGACACTGGGGCCTCTCCCAGTCCCAGCTTACACAATAGGCAGGGGAAGTGAGACATGGTCGCTGCCAGGCTGGTCCTGGCAGTGGTGCAGTTGGGAGCGGGTGGTCTGAGTGCTAGAGGCAGGGAGTAGGGTCCCCAGCATGGGGGCTACACCACATTGTCTATCTGGGCTCCCAGGGGTCTCTGAGGGTCCCCCGCACCCATCCAGCACCCACACACAGCCATGTGTGTGCTTGACTCTTGGGTCAGCCTCTCCTGTCTCTCTCTGGCCCTGTGCGTCCCCCTCCAGGGTGCCCTCACCCCGTCCCCATCTCTCCCCCATCCCTCATCCATCTCGCTGTGCACTGTTTCTCCATATCTCTCTCTCTCACCCTTCTCTCTGCCTTCCCCTTTCTCTCTGTTCTCTGTCTTGCTCCCCTCCCCTCTCCGTCCCCCTTCTGTCCCCATCTTCCTCTCTCTGTTTCCTGCTTCATCTCTTGTCTCTCTCTTTGCCTTCATACTTTGTCTCACTGCTTCTTATCTCTTTGCCTATCTCTGCCTCTGTCTTTGTCTTTCTCTGGCTCGCTCTCTCTCCCTTTGGCTTTCTCTCTCCGTCTCTCTCTGGCTCACTGTTTCTCTCTCTCGCTTTCTTGCTGTCTCTCGCTCTCTCTCGCTCTCTGTTCCACTTCCCCATCTTTGCCTGCCATCCCCCACCCTACCAGCCACACCAGGCGCAGCCCCTCTGTGACCAGCCTCCTTCCCCTCAATCCCCCTGCTGCCCTCCCTGCCCTGCCTGTAGGGCTCGGGGACCTCCAGCCGGCTGGAGCCGAGAGAACGCATGGAGCCCACCTATCAGCTGTCCCGCTGGACCCCGGTCATCAAGGATGTAATGGAGGTACTGGGTGGCAGGTCAGGGTGGGGGCCAGCCCTCCGCATCGGCTGGCGGCTCAGCCTCCCTCCTGCTGAGGTGCTAAGCCTCAGGGCTTAGGGGAAAATGCTCATTGCTGGCATTCCCTTGGCACCGATCTGCTCTGCTGAGGGGGGCACGCCAAGCCCGCAGCTGAGGAATTGGGGTGACAGCGGGGCCTGTGCTGGGGAGCCTCACTTCCTCCCCACCTGCCGGCTGCCTCCGCTATATCTCTCTAGTCTGTTCCCCTGTCCCGCAGGAGTGCCCCTGAGCCCCAGCCCTGGCCTTCCCAGGATCCCAGGGCAGCACCATCCAATGGCAATGGGCCTGGGGCGGCTTCCTGGCTTCCTCCTTGTCCCTCTAAGAGCCCCGGCCCCTCTTTCTGCGTGGGGGCCAGAGACCTGGGCCTCC
TCACCCCACCTCTCCCTGTCCCCCCTGAGTGGGCTCACCCATGGCCTGTGGCTCCTCTCCCCTCACTCTCACCCCCGCCCACCCTCATGGCCAGGAAGGTCACGGAGCTCCTGAGGACCTTCTGTGAGAGCAAGAGGCTGACCACGGACAAGGTAGGGGCGGACCCAGGTCACCAAAGGCGCTGGTGGAAGGAAGCCCCCCTCCCCATGGGCGCAGGGCCACAGCCTGGATTTCGAGCCTGGACTGAGACCCAGGTGGGCACTGCCTGGCTTCGCCCCCCAATCCCTACCCTCTTCCCCCTACTTCCCCAGGCGAACATCAAAGACCTATCCCAGATCCTGAAAAAGATGCCGCAGTACCAGAAGGAGCTGAATAAGGTGTGCTCGGGTGGGCAGGGAGCGGGGACACCTCGGCCCCTCAACCCCATGCTCTGTCTGCGTTCTGCCTTGACTCAGCCTTTGTTATCCCCCAACCCCCACCCTGCACCCTGCAGTATTCTACGCACCTGCATCTAGCAGATGATTGTATGAAGCACTTCAAGGGCTCGGTGGAGAAGCTGTGTAGTGTGGAGCAGGTGGGGCAGGGCTTGCGGGGGGCAGGGGTGATGGTCCTGCCAAGGCGGGGTATTGGGGAGGGGCTGAACTGTAGAGATGGGGGGTTCTGGGGGAGGGGCAGGGCTTGTGGAGAGGTGGAGGGGCCTTGGAGAGAGGTGGGACCTGGTGGGGAAGGAGTGGGTCTTGTGGAGAAACGGTCCTAGGATGAGGGTGTGGCCTGTGCATAGGTGGATGGGGCTTGGAGAGGTCAGACTTGGGTGAGGGGCAGAGCCTTGGACAGGTGGTCCCAGGACAGGAATGTGGCCTATTCATAGGTGGGTGGGACCTTGGAGAGGTAGGCAGGGCCTTGGAGAGGTGCGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCAGAGCCTTGGAGAGGTGGGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGCCCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTTGGAGAGGTGGGACCTGGATGAGGGGTGGAACCTTGGAGGGGTGGGACCTGGGAGAGGGGTGGAGCCTTAAGAGAGGTGGGACCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGAGTGAGGGGTGGGGCCTTGGAGAGGTAGGAGCTGGGAGACAGGTAGAGCCATGGAGAGGTGGGATCTGGGTGAGGCACGGGGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACTTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTCGGAGAGGTGGGACCTGGGTGAGGTGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTCGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTAGTCTCAGGATAGTGGTGTGACCTGTGTGTAGGTGGGTGGGGCACTGGAAAGGTGGGACCTGGGTGAGGAGCAGGGCCTGTGGAGAGACTGTCCCTGGACAGGGGTGGGACCTTGAGAGACCTGGTGCTGAGATGAGGTAGGACCCAAATGTCCTCTTGCCGAGGATCCTGGGGATGTCCTTGGCCCGCCTCTCCCATCCCCTTCCCTGACACATAGCGGCCGGTGGACGGCTGACCCCATGCCCGCAGGACCTGGCCATGGGCTCCGACGCAGAGGGGGAGAAGATCAAGGACTCCATGAAGCTGATCGTTCCGGTGCTGCTGGACGCGGCGGTGCCCGCCTACGACAAGATCCAGGTCCTGCTGCTCTACATCCTCCTTCGGAATGGTGGGTGGGGGCTGCAGGGAGTTGGAACGTCCCCATTTGCCAGCGTCTCCCACGATCCTGGGAACTGCTGAACCCCACAGCTCTCCTTGGGTCATTTGCACTCACCGGGCTCACCAACCCCCACAGCTACCCCTCTGGACCCGGGAACCCTCCTCCATTGGCTTGGGGATTCCTCCACTGAGGTGAGGGCTCCCTGCTAACGTAGAAACCCTCACATCTGTGATTCCTATAGATGTGGGGCTCCCTCAGCTCATCTGGAGGAGCCCCTGATCTACCCCCTCCAGGTTTCCCACTCTTGCTCACACTAGCACAGGGTACTGAGGCCCTCCCCACTGCAAGGTTCTCTCATCAGAGTCCTGGGAGCTCCTCAGCCCACCCCAAACTCCCCTAAACCTGGGAGCTCACCTGGCCGCCGCCTCCACCCTGCCCATTCCCGTCCCCCAGGTGTGAGTGAGGAGAACCTGGCCAAGCTGATCCAGCATGCCAATGTACAGGCGCACAGCAGCCTCATCCGTAACCTGGAGCAGCTGGGAGGCACTGTCACCAACCCCGGGGTACGCCAGGAGCGGGCATGGGGGGACCCTGGGAGAGGGTGCGGATCACAGCCGGGGCTCTGCAAGGCAGAGGGCCATTGGTGCACAGGCACGGTGTGGTTCCTGGCGTGGTGTGGTTGCTGGGAGGCCAAAAGCAGTGTTTCGGGTCTGGTCTGGGGCCCAGAGGACACTGGGGCCTCTCCCAGTCCCAGCTTACACAATAGGCAGGGGAAGTGAGACATGGTCGCTGCCAGGCTGGTCCTGGCAGTGGTGCAGTTGGGAGCGGGTGGTCTGAGTGCTAGAGGCAGGGAGTAGGGTCCCCAGCATGGGGGCTACACCACATTGTCTATCTGGGCTCCCAGGGGTCTCTGAGGGTCCCCCGCACCCATCCAGCACCCACACACAGCCATGTGTGTGCTTGACTCTTGGGTCAGCCTCTCCTGTCTCTCTCTGGCCCTGTGCGTCCCCCTCCAGGGTGCCCTCACCCCGTCCCCATCTCTCCCCCATCCCTCATCCATCTCGCTGTGCACTGTTTCTCCATATCTCTCTCTCTCACCCTTCTCTCTGCCTTCCCCTTTCTCTCTGTTCTCTGTCTTGCTCCCCTCCCCTCTCCGTCCCCCTTCTGTCCCCATCTTCCTCTCTCTGTTTCCTGCTTCATCTCTTGTCTCTCTCTTTGCCTTCATACTTTGTCTCACTGCTTCTTATCTCTTTGCCTATCTCTGCCTCTGTCTTTGTCTTTCTCTGGCTCGCTCTCTCTCCCTTTGGCTTTCTCTCTCCGTCTCTCTCTGGCTCACTGTTTCTCTCTCTCGCTTTCTTGCTGTCTCTCGCTCTCTCTCGCTCTCTGTTCCACTTCCCCATCTTTGCCTGCCATCCCCCACCCTACCAGCCACACCAGGCGCAGCCCCTCTGTGACCAGCCTCCTTCCCCTCAATCCCCCTGCTGCCCTCCCTGCCCTGCCTGTAGGGCTCGGGGACCTCCAGCCGGCTGGAGCCGAGAGAACGCATGGAGCCCACCTATCAGCTGTCCCGCTGGACCCCGGTCATCAAGGATGTAATGGAGGTACTGGGTGGCAGGTCAGGGTGGGGGCCAGCCCTCCGCATCGGCTGGCGGCTCAGCCTCCCTCCTGCTGAGGTGCTAAGCCTCAGGGCTTAGGGGAAAATGCTCATTGCTGGCATTCCCTTGGCACCGATCTGCTCTGCTGAGGGGGGCACGCCAAGCCCGCAGCTGAGGAATTGGGGTGACAGCGGGGCCTGTGCTGGGGAGCCTCACTTCCTCCCCACCTGCCGGCTGCCTCCGCTATATCTCTCTAGTCTGTTCCCCTGTCCCGCAGGAGTGCCCCTGAGCCCCAGCCCTGGCCTTCCCAGGATCCCAGGGCAGCACCATCCAATGGCAATGGGCCTGGGGCGGCTTCCTGGCTTCCTCCTTGTCCCTCTAAGAGCCCCGGCCCCTCTTTCTGCGTGGGGGCCAGAGACCTGGGCCTCC
Task1_train_26393
This genomic variant is located on Chromosome 19, within the STXBP2 (syntaxin binding protein 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Familial hemophagocytic lymphohistiocytosis 5
TCACCCCACCTCTCCCTGTCCCCCCTGAGTGGGCTCACCCATGGCCTGTGGCTCCTCTCCCCTCACTCTCACCCCCGCCCACCCTCATGGCCAGGAAGGTCACGGAGCTCCTGAGGACCTTCTGTGAGAGCAAGAGGCTGACCACGGACAAGGTAGGGGCGGACCCAGGTCACCAAAGGCGCTGGTGGAAGGAAGCCCCCCTCCCCATGGGCGCAGGGCCACAGCCTGGATTTCGAGCCTGGACTGAGACCCAGGTGGGCACTGCCTGGCTTCGCCCCCCAATCCCTACCCTCTTCCCCCTACTTCCCCAGGCGAACATCAAAGACCTATCCCAGATCCTGAAAAAGATGCCGCAGTACCAGAAGGAGCTGAATAAGGTGTGCTCGGGTGGGCAGGGAGCGGGGACACCTCGGCCCCTCAACCCCATGCTCTGTCTGCGTTCTGCCTTGACTCAGCCTTTGTTATCCCCCAACCCCCACCCTGCACCCTGCAGTATTCTACGCACCTGCATCTAGCAGATGATTGTATGAAGCACTTCAAGGGCTCGGTGGAGAAGCTGTGTAGTGTGGAGCAGGTGGGGCAGGGCTTGCGGGGGGCAGGGGTGATGGTCCTGCCAAGGCGGGGTATTGGGGAGGGGCTGAACTGTAGAGATGGGGGGTTCTGGGGGAGGGGCAGGGCTTGTGGAGAGGTGGAGGGGCCTTGGAGAGAGGTGGGACCTGGTGGGGAAGGAGTGGGTCTTGTGGAGAAACGGTCCTAGGATGAGGGTGTGGCCTGTGCATAGGTGGATGGGGCTTGGAGAGGTCAGACTTGGGTGAGGGGCAGAGCCTTGGACAGGTGGTCCCAGGACAGGAATGTGGCCTATTCATAGGTGGGTGGGACCTTGGAGAGGTAGGCAGGGCCTTGGAGAGGTGCGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCAGAGCCTTGGAGAGGTGGGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGCCCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTTGGAGAGGTGGGACCTGGATGAGGGGTGGAACCTTGGAGGGGTGGGACCTGGGAGAGGGGTGGAGCCTTAAGAGAGGTGGGACCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGAGTGAGGGGTGGGGCCTTGGAGAGGTAGGAGCTGGGAGACAGGTAGAGCCATGGAGAGGTGGGATCTGGGTGAGGCACGGGGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACTTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTCGGAGAGGTGGGACCTGGGTGAGGTGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTCGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTAGTCTCAGGATAGTGGTGTGACCTGTGTGTAGGTGGGTGGGGCACTGGAAAGGTGGGACCTGGGTGAGGAGCAGGGCCTGTGGAGAGACTGTCCCTGGACAGGGGTGGGACCTTGAGAGACCTGGTGCTGAGATGAGGTAGGACCCAAATGTCCTCTTGCCGAGGATCCTGGGGATGTCCTTGGCCCGCCTCTCCCATCCCCTTCCCTGACACATAGCGGCCGGTGGACGGCTGACCCCATGCCCGCAGGACCTGGCCATGGGCTCCGACGCAGAGGGGGAGAAGATCAAGGACTCCATGAAGCTGATCGTTCCGGTGCTGCTGGACGCGGCGGTGCCCGCCTACGACAAGATCCGGGTCCTGCTGCTCTACATCCTCCTTCGGAATGGTGGGTGGGGGCTGCAGGGAGTTGGAACGTCCCCATTTGCCAGCGTCTCCCACGATCCTGGGAACTGCTGAACCCCACAGCTCTCCTTGGGTCATTTGCACTCACCGGGCTCACCAACCCCCACAGCTACCCCTCTGGACCCGGGAACCCTCCTCCATTGGCTTGGGGATTCCTCCACTGAGGTGAGGGCTCCCTGCTAACGTAGAAACCCTCACATCTGTGATTCCTATAGATGTGGGGCTCCCTCAGCTCATCTGGAGGAGCCCCTGATCTACCCCCTCCAGGTTTCCCACTCTTGCTCACACTAGCACAGGGTACTGAGGCCCTCCCCACTGCAAGGTTCTCTCATCAGAGTCCTGGGAGCTCCTCAGCCCACCCCAAACTCCCCTAAACCTGGGAGCTCACCTGGCCGCCGCCTCCACCCTGCCCATTCCCGTCCCCCAGGTGTGAGTGAGGAGAACCTGGCCAAGCTGATCCAGCATGCCAATGTACAGGCGCACAGCAGCCTCATCCGTAACCTGGAGCAGCTGGGAGGCACTGTCACCAACCCCGGGGTACGCCAGGAGCGGGCATGGGGGGACCCTGGGAGAGGGTGCGGATCACAGCCGGGGCTCTGCAAGGCAGAGGGCCATTGGTGCACAGGCACGGTGTGGTTCCTGGCGTGGTGTGGTTGCTGGGAGGCCAAAAGCAGTGTTTCGGGTCTGGTCTGGGGCCCAGAGGACACTGGGGCCTCTCCCAGTCCCAGCTTACACAATAGGCAGGGGAAGTGAGACATGGTCGCTGCCAGGCTGGTCCTGGCAGTGGTGCAGTTGGGAGCGGGTGGTCTGAGTGCTAGAGGCAGGGAGTAGGGTCCCCAGCATGGGGGCTACACCACATTGTCTATCTGGGCTCCCAGGGGTCTCTGAGGGTCCCCCGCACCCATCCAGCACCCACACACAGCCATGTGTGTGCTTGACTCTTGGGTCAGCCTCTCCTGTCTCTCTCTGGCCCTGTGCGTCCCCCTCCAGGGTGCCCTCACCCCGTCCCCATCTCTCCCCCATCCCTCATCCATCTCGCTGTGCACTGTTTCTCCATATCTCTCTCTCTCACCCTTCTCTCTGCCTTCCCCTTTCTCTCTGTTCTCTGTCTTGCTCCCCTCCCCTCTCCGTCCCCCTTCTGTCCCCATCTTCCTCTCTCTGTTTCCTGCTTCATCTCTTGTCTCTCTCTTTGCCTTCATACTTTGTCTCACTGCTTCTTATCTCTTTGCCTATCTCTGCCTCTGTCTTTGTCTTTCTCTGGCTCGCTCTCTCTCCCTTTGGCTTTCTCTCTCCGTCTCTCTCTGGCTCACTGTTTCTCTCTCTCGCTTTCTTGCTGTCTCTCGCTCTCTCTCGCTCTCTGTTCCACTTCCCCATCTTTGCCTGCCATCCCCCACCCTACCAGCCACACCAGGCGCAGCCCCTCTGTGACCAGCCTCCTTCCCCTCAATCCCCCTGCTGCCCTCCCTGCCCTGCCTGTAGGGCTCGGGGACCTCCAGCCGGCTGGAGCCGAGAGAACGCATGGAGCCCACCTATCAGCTGTCCCGCTGGACCCCGGTCATCAAGGATGTAATGGAGGTACTGGGTGGCAGGTCAGGGTGGGGGCCAGCCCTCCGCATCGGCTGGCGGCTCAGCCTCCCTCCTGCTGAGGTGCTAAGCCTCAGGGCTTAGGGGAAAATGCTCATTGCTGGCATTCCCTTGGCACCGATCTGCTCTGCTGAGGGGGGCACGCCAAGCCCGCAGCTGAGGAATTGGGGTGACAGCGGGGCCTGTGCTGGGGAGCCTCACTTCCTCCCCACCTGCCGGCTGCCTCCGCTATATCTCTCTAGTCTGTTCCCCTGTCCCGCAGGAGTGCCCCTGAGCCCCAGCCCTGGCCTTCCCAGGATCCCAGGGCAGCACCATCCAATGGCAATGGGCCTGGGGCGGCTTCCTGGCTTCCTCCTTGTCCCTCTAAGAGCCCCGGCCCCTCTTTCTGCGTGGGGGCCAGAGACCTGGGCCTCC
TCACCCCACCTCTCCCTGTCCCCCCTGAGTGGGCTCACCCATGGCCTGTGGCTCCTCTCCCCTCACTCTCACCCCCGCCCACCCTCATGGCCAGGAAGGTCACGGAGCTCCTGAGGACCTTCTGTGAGAGCAAGAGGCTGACCACGGACAAGGTAGGGGCGGACCCAGGTCACCAAAGGCGCTGGTGGAAGGAAGCCCCCCTCCCCATGGGCGCAGGGCCACAGCCTGGATTTCGAGCCTGGACTGAGACCCAGGTGGGCACTGCCTGGCTTCGCCCCCCAATCCCTACCCTCTTCCCCCTACTTCCCCAGGCGAACATCAAAGACCTATCCCAGATCCTGAAAAAGATGCCGCAGTACCAGAAGGAGCTGAATAAGGTGTGCTCGGGTGGGCAGGGAGCGGGGACACCTCGGCCCCTCAACCCCATGCTCTGTCTGCGTTCTGCCTTGACTCAGCCTTTGTTATCCCCCAACCCCCACCCTGCACCCTGCAGTATTCTACGCACCTGCATCTAGCAGATGATTGTATGAAGCACTTCAAGGGCTCGGTGGAGAAGCTGTGTAGTGTGGAGCAGGTGGGGCAGGGCTTGCGGGGGGCAGGGGTGATGGTCCTGCCAAGGCGGGGTATTGGGGAGGGGCTGAACTGTAGAGATGGGGGGTTCTGGGGGAGGGGCAGGGCTTGTGGAGAGGTGGAGGGGCCTTGGAGAGAGGTGGGACCTGGTGGGGAAGGAGTGGGTCTTGTGGAGAAACGGTCCTAGGATGAGGGTGTGGCCTGTGCATAGGTGGATGGGGCTTGGAGAGGTCAGACTTGGGTGAGGGGCAGAGCCTTGGACAGGTGGTCCCAGGACAGGAATGTGGCCTATTCATAGGTGGGTGGGACCTTGGAGAGGTAGGCAGGGCCTTGGAGAGGTGCGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCAGAGCCTTGGAGAGGTGGGACCTGGGAGAGGAATGGAGCCTTGGAGAGGTGGGCCCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTTGGAGAGGTGGGACCTGGATGAGGGGTGGAACCTTGGAGGGGTGGGACCTGGGAGAGGGGTGGAGCCTTAAGAGAGGTGGGACCTGGGAGAGGGGCGGAGCCTTGGAGAGGTGGGACCTGAGTGAGGGGTGGGGCCTTGGAGAGGTAGGAGCTGGGAGACAGGTAGAGCCATGGAGAGGTGGGATCTGGGTGAGGCACGGGGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACTTGGGTGAGGGGTGGAGCCTTGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTCGGAGAGGTGGGACCTGGGTGAGGTGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAACCTCGGAGAGGTGGGACCTGGGTGAGGGGTGGAGCCTCGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTAGTCTCAGGATAGTGGTGTGACCTGTGTGTAGGTGGGTGGGGCACTGGAAAGGTGGGACCTGGGTGAGGAGCAGGGCCTGTGGAGAGACTGTCCCTGGACAGGGGTGGGACCTTGAGAGACCTGGTGCTGAGATGAGGTAGGACCCAAATGTCCTCTTGCCGAGGATCCTGGGGATGTCCTTGGCCCGCCTCTCCCATCCCCTTCCCTGACACATAGCGGCCGGTGGACGGCTGACCCCATGCCCGCAGGACCTGGCCATGGGCTCCGACGCAGAGGGGGAGAAGATCAAGGACTCCATGAAGCTGATCGTTCCGGTGCTGCTGGACGCGGCGGTGCCCGCCTACGACAAGATCCAGGTCCTGCTGCTCTACATCCTCCTTCGGAATGGTGGGTGGGGGCTGCAGGGAGTTGGAACGTCCCCATTTGCCAGCGTCTCCCACGATCCTGGGAACTGCTGAACCCCACAGCTCTCCTTGGGTCATTTGCACTCACCGGGCTCACCAACCCCCACAGCTACCCCTCTGGACCCGGGAACCCTCCTCCATTGGCTTGGGGATTCCTCCACTGAGGTGAGGGCTCCCTGCTAACGTAGAAACCCTCACATCTGTGATTCCTATAGATGTGGGGCTCCCTCAGCTCATCTGGAGGAGCCCCTGATCTACCCCCTCCAGGTTTCCCACTCTTGCTCACACTAGCACAGGGTACTGAGGCCCTCCCCACTGCAAGGTTCTCTCATCAGAGTCCTGGGAGCTCCTCAGCCCACCCCAAACTCCCCTAAACCTGGGAGCTCACCTGGCCGCCGCCTCCACCCTGCCCATTCCCGTCCCCCAGGTGTGAGTGAGGAGAACCTGGCCAAGCTGATCCAGCATGCCAATGTACAGGCGCACAGCAGCCTCATCCGTAACCTGGAGCAGCTGGGAGGCACTGTCACCAACCCCGGGGTACGCCAGGAGCGGGCATGGGGGGACCCTGGGAGAGGGTGCGGATCACAGCCGGGGCTCTGCAAGGCAGAGGGCCATTGGTGCACAGGCACGGTGTGGTTCCTGGCGTGGTGTGGTTGCTGGGAGGCCAAAAGCAGTGTTTCGGGTCTGGTCTGGGGCCCAGAGGACACTGGGGCCTCTCCCAGTCCCAGCTTACACAATAGGCAGGGGAAGTGAGACATGGTCGCTGCCAGGCTGGTCCTGGCAGTGGTGCAGTTGGGAGCGGGTGGTCTGAGTGCTAGAGGCAGGGAGTAGGGTCCCCAGCATGGGGGCTACACCACATTGTCTATCTGGGCTCCCAGGGGTCTCTGAGGGTCCCCCGCACCCATCCAGCACCCACACACAGCCATGTGTGTGCTTGACTCTTGGGTCAGCCTCTCCTGTCTCTCTCTGGCCCTGTGCGTCCCCCTCCAGGGTGCCCTCACCCCGTCCCCATCTCTCCCCCATCCCTCATCCATCTCGCTGTGCACTGTTTCTCCATATCTCTCTCTCTCACCCTTCTCTCTGCCTTCCCCTTTCTCTCTGTTCTCTGTCTTGCTCCCCTCCCCTCTCCGTCCCCCTTCTGTCCCCATCTTCCTCTCTCTGTTTCCTGCTTCATCTCTTGTCTCTCTCTTTGCCTTCATACTTTGTCTCACTGCTTCTTATCTCTTTGCCTATCTCTGCCTCTGTCTTTGTCTTTCTCTGGCTCGCTCTCTCTCCCTTTGGCTTTCTCTCTCCGTCTCTCTCTGGCTCACTGTTTCTCTCTCTCGCTTTCTTGCTGTCTCTCGCTCTCTCTCGCTCTCTGTTCCACTTCCCCATCTTTGCCTGCCATCCCCCACCCTACCAGCCACACCAGGCGCAGCCCCTCTGTGACCAGCCTCCTTCCCCTCAATCCCCCTGCTGCCCTCCCTGCCCTGCCTGTAGGGCTCGGGGACCTCCAGCCGGCTGGAGCCGAGAGAACGCATGGAGCCCACCTATCAGCTGTCCCGCTGGACCCCGGTCATCAAGGATGTAATGGAGGTACTGGGTGGCAGGTCAGGGTGGGGGCCAGCCCTCCGCATCGGCTGGCGGCTCAGCCTCCCTCCTGCTGAGGTGCTAAGCCTCAGGGCTTAGGGGAAAATGCTCATTGCTGGCATTCCCTTGGCACCGATCTGCTCTGCTGAGGGGGGCACGCCAAGCCCGCAGCTGAGGAATTGGGGTGACAGCGGGGCCTGTGCTGGGGAGCCTCACTTCCTCCCCACCTGCCGGCTGCCTCCGCTATATCTCTCTAGTCTGTTCCCCTGTCCCGCAGGAGTGCCCCTGAGCCCCAGCCCTGGCCTTCCCAGGATCCCAGGGCAGCACCATCCAATGGCAATGGGCCTGGGGCGGCTTCCTGGCTTCCTCCTTGTCCCTCTAAGAGCCCCGGCCCCTCTTTCTGCGTGGGGGCCAGAGACCTGGGCCTCC
Task1_train_26394
Gene STXBP2 (syntaxin binding protein 2) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Familial hemophagocytic lymphohistiocytosis 5
GAGGGGTGGAGCCTCGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTAGTCTCAGGATAGTGGTGTGACCTGTGTGTAGGTGGGTGGGGCACTGGAAAGGTGGGACCTGGGTGAGGAGCAGGGCCTGTGGAGAGACTGTCCCTGGACAGGGGTGGGACCTTGAGAGACCTGGTGCTGAGATGAGGTAGGACCCAAATGTCCTCTTGCCGAGGATCCTGGGGATGTCCTTGGCCCGCCTCTCCCATCCCCTTCCCTGACACATAGCGGCCGGTGGACGGCTGACCCCATGCCCGCAGGACCTGGCCATGGGCTCCGACGCAGAGGGGGAGAAGATCAAGGACTCCATGAAGCTGATCGTTCCGGTGCTGCTGGACGCGGCGGTGCCCGCCTACGACAAGATCCGGGTCCTGCTGCTCTACATCCTCCTTCGGAATGGTGGGTGGGGGCTGCAGGGAGTTGGAACGTCCCCATTTGCCAGCGTCTCCCACGATCCTGGGAACTGCTGAACCCCACAGCTCTCCTTGGGTCATTTGCACTCACCGGGCTCACCAACCCCCACAGCTACCCCTCTGGACCCGGGAACCCTCCTCCATTGGCTTGGGGATTCCTCCACTGAGGTGAGGGCTCCCTGCTAACGTAGAAACCCTCACATCTGTGATTCCTATAGATGTGGGGCTCCCTCAGCTCATCTGGAGGAGCCCCTGATCTACCCCCTCCAGGTTTCCCACTCTTGCTCACACTAGCACAGGGTACTGAGGCCCTCCCCACTGCAAGGTTCTCTCATCAGAGTCCTGGGAGCTCCTCAGCCCACCCCAAACTCCCCTAAACCTGGGAGCTCACCTGGCCGCCGCCTCCACCCTGCCCATTCCCGTCCCCCAGGTGTGAGTGAGGAGAACCTGGCCAAGCTGATCCAGCATGCCAATGTACAGGCGCACAGCAGCCTCATCCGTAACCTGGAGCAGCTGGGAGGCACTGTCACCAACCCCGGGGTACGCCAGGAGCGGGCATGGGGGGACCCTGGGAGAGGGTGCGGATCACAGCCGGGGCTCTGCAAGGCAGAGGGCCATTGGTGCACAGGCACGGTGTGGTTCCTGGCGTGGTGTGGTTGCTGGGAGGCCAAAAGCAGTGTTTCGGGTCTGGTCTGGGGCCCAGAGGACACTGGGGCCTCTCCCAGTCCCAGCTTACACAATAGGCAGGGGAAGTGAGACATGGTCGCTGCCAGGCTGGTCCTGGCAGTGGTGCAGTTGGGAGCGGGTGGTCTGAGTGCTAGAGGCAGGGAGTAGGGTCCCCAGCATGGGGGCTACACCACATTGTCTATCTGGGCTCCCAGGGGTCTCTGAGGGTCCCCCGCACCCATCCAGCACCCACACACAGCCATGTGTGTGCTTGACTCTTGGGTCAGCCTCTCCTGTCTCTCTCTGGCCCTGTGCGTCCCCCTCCAGGGTGCCCTCACCCCGTCCCCATCTCTCCCCCATCCCTCATCCATCTCGCTGTGCACTGTTTCTCCATATCTCTCTCTCTCACCCTTCTCTCTGCCTTCCCCTTTCTCTCTGTTCTCTGTCTTGCTCCCCTCCCCTCTCCGTCCCCCTTCTGTCCCCATCTTCCTCTCTCTGTTTCCTGCTTCATCTCTTGTCTCTCTCTTTGCCTTCATACTTTGTCTCACTGCTTCTTATCTCTTTGCCTATCTCTGCCTCTGTCTTTGTCTTTCTCTGGCTCGCTCTCTCTCCCTTTGGCTTTCTCTCTCCGTCTCTCTCTGGCTCACTGTTTCTCTCTCTCGCTTTCTTGCTGTCTCTCGCTCTCTCTCGCTCTCTGTTCCACTTCCCCATCTTTGCCTGCCATCCCCCACCCTACCAGCCACACCAGGCGCAGCCCCTCTGTGACCAGCCTCCTTCCCCTCAATCCCCCTGCTGCCCTCCCTGCCCTGCCTGTAGGGCTCGGGGACCTCCAGCCGGCTGGAGCCGAGAGAACGCATGGAGCCCACCTATCAGCTGTCCCGCTGGACCCCGGTCATCAAGGATGTAATGGAGGTACTGGGTGGCAGGTCAGGGTGGGGGCCAGCCCTCCGCATCGGCTGGCGGCTCAGCCTCCCTCCTGCTGAGGTGCTAAGCCTCAGGGCTTAGGGGAAAATGCTCATTGCTGGCATTCCCTTGGCACCGATCTGCTCTGCTGAGGGGGGCACGCCAAGCCCGCAGCTGAGGAATTGGGGTGACAGCGGGGCCTGTGCTGGGGAGCCTCACTTCCTCCCCACCTGCCGGCTGCCTCCGCTATATCTCTCTAGTCTGTTCCCCTGTCCCGCAGGAGTGCCCCTGAGCCCCAGCCCTGGCCTTCCCAGGATCCCAGGGCAGCACCATCCAATGGCAATGGGCCTGGGGCGGCTTCCTGGCTTCCTCCTTGTCCCTCTAAGAGCCCCGGCCCCTCTTTCTGCGTGGGGGCCAGAGACCTGGGCCTCCTCATCCCCATGGACCTTGAATACCTGGACTTCTGGGGCTCTGAGGGGCTGAGAGCCCAGACACTGGGTTCCCCAAAGGGCTGGGGGTATTGACTGATGGTCCCCAAGGGCCTGGAGGCCCAGACTACTGGGTTGCCGAGGAACTGTGGGTTTAGACTTCTGGGTACCCAAGGAGTTATGGAATTAGATTCGTGGGTCCCCAGTGAGTTATGGATCTAGATTTCTAGGTCCCCAATGGACTAGAGGCCTAGACTCCTGGGTCCCCCAGAGGCAGGAGGTGGAGATGCTGGTTCCTGTCTGCCAGGATCTTGGCCCCTGAATACCCCGTGGGGGGCACTCCTGACCCCGGACCCCATGCCTGGGGTTCCTCCCCTAACCTGCCTCTCGGCCGCCAGGACGCCGTGGAGGACCGGCTGGACAGGAACCTGTGGCCCTTCGTATCCGACCCCGCCCCCACGGCCAGCTCCCAGGCCGCTGTCAGGTGAGGCCCCGGGGCCGCCCCCGCCCACGCCTGGGTCTGTGTTAGGTGGGCGGCCTGGCGGCGGTGAGGGCCTCCTGCCTGGACTTTCTGCCCCTGCCCTGCACAGTGCCCGCTTCGGTCACTGGCACAAGAACAAGGCTGGCATAGAAGCCCGGGCGGGCCCCCGGCTCATCGTGTATGTCATGGGCGGTGTGGCCATGTCAGAGATGAGGGCCGCCTACGAGGTGACCAGGGCCACCGAGGGCAAGTGGGAGGTGCTCATTGGTAAGTCACCAGGACTGGGACCCTGGGGTCTGGGGCTTGGGTTCCCGGGGCCTGGGCTTGTACCTTCTAGGTGTCTGGACTCCAGAGTCCTTGGAGTCAGGGACCTGGTTTGCTGAGGGACAGGGACAGCCCCACACCAGCCGGGACCGGGAGCCTGTCAAAGACGAAGGCAGCGCCCCCCAACATCTTCCCCAAACCTCTGCCCCTGCACAGGCTCCTCACACATCCTCACCCCGACCCGCTTCCTGGATGACCTGAAGGCACTGGACAAGAAGCTGGAGGACATTGCCCTGCCCTGACCCCTGGCCCCGCCCCCTACCCCTCCCTTTCCAGAGAAATAAACTCTTCCCGTCGCTCTGCCAGCCAGTGCCTACCTCACCTTCTTATCAAGGGAGTCCCTGGGAGTTGTGCTGAGCCAGGCCTGTGCCCCAGGCCCCACCAACCCCTATTATCCTCTCAGAAGGAGAATTAGCCTCTCCCTGCCCCTGAGGGCATCTCAAGCCCTCATGGAGGTTAAGAACTTGGACTTTTGGCAGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAAACCCATCTCTACTAGAAATACAAAACAACTAGCTGGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGCTGCAGTGAGCCGAGATTGCCCCTTTGCACTCCAACCTGGGCAACAAAGCGAGACTCCGTCTCAAAAAAAAAAAAATTGGACTCTCATTTGAATATCAGCTCTAAG
GAGGGGTGGAGCCTCGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGCTGGGACCTGGGTGAGGGGTGGAGCCTTGGAGAGGTAGTCTCAGGATAGTGGTGTGACCTGTGTGTAGGTGGGTGGGGCACTGGAAAGGTGGGACCTGGGTGAGGAGCAGGGCCTGTGGAGAGACTGTCCCTGGACAGGGGTGGGACCTTGAGAGACCTGGTGCTGAGATGAGGTAGGACCCAAATGTCCTCTTGCCGAGGATCCTGGGGATGTCCTTGGCCCGCCTCTCCCATCCCCTTCCCTGACACATAGCGGCCGGTGGACGGCTGACCCCATGCCCGCAGGACCTGGCCATGGGCTCCGACGCAGAGGGGGAGAAGATCAAGGACTCCATGAAGCTGATCGTTCCGGTGCTGCTGGACGCGGCGGTGCCCGCCTACGACAAGATCCGGGTCCTGCTGCTCTACATCCTCCTTCGGAATGGTGGGTGGGGGCTGCAGGGAGTTGGAACGTCCCCATTTGCCAGCGTCTCCCACGATCCTGGGAACTGCTGAACCCCACAGCTCTCCTTGGGTCATTTGCACTCACCGGGCTCACCAACCCCCACAGCTACCCCTCTGGACCCGGGAACCCTCCTCCATTGGCTTGGGGATTCCTCCACTGAGGTGAGGGCTCCCTGCTAACGTAGAAACCCTCACATCTGTGATTCCTATAGATGTGGGGCTCCCTCAGCTCATCTGGAGGAGCCCCTGATCTACCCCCTCCAGGTTTCCCACTCTTGCTCACACTAGCACAGGGTACTGAGGCCCTCCCCACTGCAAGGTTCTCTCATCAGAGTCCTGGGAGCTCCTCAGCCCACCCCAAACTCCCCTAAACCTGGGAGCTCACCTGGCCGCCGCCTCCACCCTGCCCATTCCCGTCCCCCAGGTGTGAGTGAGGAGAACCTGGCCAAGCTGATCCAGCATGCCAATGTACAGGCGCACAGCAGCCTCATCCGTAACCTGGAGCAGCTGGGAGGCACTGTCACCAACCCCGGGGTACGCCAGGAGCGGGCATGGGGGGACCCTGGGAGAGGGTGCGGATCACAGCCGGGGCTCTGCAAGGCAGAGGGCCATTGGTGCACAGGCACGGTGTGGTTCCTGGCGTGGTGTGGTTGCTGGGAGGCCAAAAGCAGTGTTTCGGGTCTGGTCTGGGGCCCAGAGGACACTGGGGCCTCTCCCAGTCCCAGCTTACACAATAGGCAGGGGAAGTGAGACATGGTCGCTGCCAGGCTGGTCCTGGCAGTGGTGCAGTTGGGAGCGGGTGGTCTGAGTGCTAGAGGCAGGGAGTAGGGTCCCCAGCATGGGGGCTACACCACATTGTCTATCTGGGCTCCCAGGGGTCTCTGAGGGTCCCCCGCACCCATCCAGCACCCACACACAGCCATGTGTGTGCTTGACTCTTGGGTCAGCCTCTCCTGTCTCTCTCTGGCCCTGTGCGTCCCCCTCCAGGGTGCCCTCACCCCGTCCCCATCTCTCCCCCATCCCTCATCCATCTCGCTGTGCACTGTTTCTCCATATCTCTCTCTCTCACCCTTCTCTCTGCCTTCCCCTTTCTCTCTGTTCTCTGTCTTGCTCCCCTCCCCTCTCCGTCCCCCTTCTGTCCCCATCTTCCTCTCTCTGTTTCCTGCTTCATCTCTTGTCTCTCTCTTTGCCTTCATACTTTGTCTCACTGCTTCTTATCTCTTTGCCTATCTCTGCCTCTGTCTTTGTCTTTCTCTGGCTCGCTCTCTCTCCCTTTGGCTTTCTCTCTCCGTCTCTCTCTGGCTCACTGTTTCTCTCTCTCGCTTTCTTGCTGTCTCTCGCTCTCTCTCGCTCTCTGTTCCACTTCCCCATCTTTGCCTGCCATCCCCCACCCTACCAGCCACACCAGGCGCAGCCCCTCTGTGACCAGCCTCCTTCCCCTCAATCCCCCTGCTGCCCTCCCTGCCCTGCCTGTAGGGCTCGGGGACCTCCAGCCGGCTGGAGCCGAGAGAACGCATGGAGCCCACCTATCAGCTGTCCCGCTGGACCCTGGTCATCAAGGATGTAATGGAGGTACTGGGTGGCAGGTCAGGGTGGGGGCCAGCCCTCCGCATCGGCTGGCGGCTCAGCCTCCCTCCTGCTGAGGTGCTAAGCCTCAGGGCTTAGGGGAAAATGCTCATTGCTGGCATTCCCTTGGCACCGATCTGCTCTGCTGAGGGGGGCACGCCAAGCCCGCAGCTGAGGAATTGGGGTGACAGCGGGGCCTGTGCTGGGGAGCCTCACTTCCTCCCCACCTGCCGGCTGCCTCCGCTATATCTCTCTAGTCTGTTCCCCTGTCCCGCAGGAGTGCCCCTGAGCCCCAGCCCTGGCCTTCCCAGGATCCCAGGGCAGCACCATCCAATGGCAATGGGCCTGGGGCGGCTTCCTGGCTTCCTCCTTGTCCCTCTAAGAGCCCCGGCCCCTCTTTCTGCGTGGGGGCCAGAGACCTGGGCCTCCTCATCCCCATGGACCTTGAATACCTGGACTTCTGGGGCTCTGAGGGGCTGAGAGCCCAGACACTGGGTTCCCCAAAGGGCTGGGGGTATTGACTGATGGTCCCCAAGGGCCTGGAGGCCCAGACTACTGGGTTGCCGAGGAACTGTGGGTTTAGACTTCTGGGTACCCAAGGAGTTATGGAATTAGATTCGTGGGTCCCCAGTGAGTTATGGATCTAGATTTCTAGGTCCCCAATGGACTAGAGGCCTAGACTCCTGGGTCCCCCAGAGGCAGGAGGTGGAGATGCTGGTTCCTGTCTGCCAGGATCTTGGCCCCTGAATACCCCGTGGGGGGCACTCCTGACCCCGGACCCCATGCCTGGGGTTCCTCCCCTAACCTGCCTCTCGGCCGCCAGGACGCCGTGGAGGACCGGCTGGACAGGAACCTGTGGCCCTTCGTATCCGACCCCGCCCCCACGGCCAGCTCCCAGGCCGCTGTCAGGTGAGGCCCCGGGGCCGCCCCCGCCCACGCCTGGGTCTGTGTTAGGTGGGCGGCCTGGCGGCGGTGAGGGCCTCCTGCCTGGACTTTCTGCCCCTGCCCTGCACAGTGCCCGCTTCGGTCACTGGCACAAGAACAAGGCTGGCATAGAAGCCCGGGCGGGCCCCCGGCTCATCGTGTATGTCATGGGCGGTGTGGCCATGTCAGAGATGAGGGCCGCCTACGAGGTGACCAGGGCCACCGAGGGCAAGTGGGAGGTGCTCATTGGTAAGTCACCAGGACTGGGACCCTGGGGTCTGGGGCTTGGGTTCCCGGGGCCTGGGCTTGTACCTTCTAGGTGTCTGGACTCCAGAGTCCTTGGAGTCAGGGACCTGGTTTGCTGAGGGACAGGGACAGCCCCACACCAGCCGGGACCGGGAGCCTGTCAAAGACGAAGGCAGCGCCCCCCAACATCTTCCCCAAACCTCTGCCCCTGCACAGGCTCCTCACACATCCTCACCCCGACCCGCTTCCTGGATGACCTGAAGGCACTGGACAAGAAGCTGGAGGACATTGCCCTGCCCTGACCCCTGGCCCCGCCCCCTACCCCTCCCTTTCCAGAGAAATAAACTCTTCCCGTCGCTCTGCCAGCCAGTGCCTACCTCACCTTCTTATCAAGGGAGTCCCTGGGAGTTGTGCTGAGCCAGGCCTGTGCCCCAGGCCCCACCAACCCCTATTATCCTCTCAGAAGGAGAATTAGCCTCTCCCTGCCCCTGAGGGCATCTCAAGCCCTCATGGAGGTTAAGAACTTGGACTTTTGGCAGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAAACCCATCTCTACTAGAAATACAAAACAACTAGCTGGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGCTGCAGTGAGCCGAGATTGCCCCTTTGCACTCCAACCTGGGCAACAAAGCGAGACTCCGTCTCAAAAAAAAAAAAATTGGACTCTCATTTGAATATCAGCTCTAAG
Task1_train_26395
Assess the clinical impact of this variant on gene RPS28 (ribosomal protein S28), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
CCGGGAGATGGAGATTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGTTGAAAACAAAGTTTGATACTTCTAATATTTGGAATTAGTCACAACATATAGGCATTTACATAAATTTCATTATTTTAATGCTATTTTTCTTCCTTTCATTATAATCCTCAATGACTGCCTTACCTCTGCCTACCCTTTGACTTCATAGATTATACCATTATCCCTTTCCCTCAATGGGTTCCATCCATACTGGCCTCCTTCCACTCAGGCTCTGTCCAGCCTGACACTCTTAGCCCTTCCTGTTCCCTCTGCTCAGAATGTTTTTTCTTTTTTATTTTTTTGAGACAGAGTGTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAATATCCACCTCCTGTGTTCAAGCGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGACTACCCGCGCGCGCCACCACGCCCGGCTAATTTTTGTATTTCTAGTAGAGAGGGGGTTTTACTGTGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCCAAGTGCTGGGATCACAAGCGTGAGCCACCGCGCCCGGTCAGAATGTTTTTTCAATAATTATTCTTTGAATGGGTCCTTCCCATCATTCAGGGGACTCAACTGTCAATTTCCAAAGAAAGATCTTTCCCAATCATCTGACTTTACGTAGCCACCCTCCAGCTTCCACTTATTTTGTTTTGTCTTCAAAGCATTCCAGAACAATACTACCTGCTGTGTTTGTTTCCCTACTATGCTTCTCCCTAGAATGTGGCGTCCATGAAAGAATGTGGATAAGAACTTTCCTGGTTCACAAAGTTAAACCCAAGGCTGAGGTCATACATGACGGGGGCTTGTAAATATCAACTAATATTTTAATATAAATGAGTCTGAAATCAGGACACTTCTGGGTTCAAGTCCCCGCTGCCACTTTTTAGCTTCTGAGTGACTTGAGGCAAATGATTTCGCCTCTCTGGACCTCTTTTTTCATCTGTAGCTTGGGGATAACACTGACTAACATGGCCACGCTGAGCACTGCAAATCTAGCCTGATTGCCAGTCAGAATGCACGCCCGGCCTCGCTGTTTCAGGAGGGCTGTCCTCCGGAGTTCAGCAAGGTTAAAGGCAAACCTCTGCCTCCACAGCCTGGCAGGGGACTGGTGGCAGGATGTCAGCCCTCCGTTTCAGGGGTCTAAAGGAACACAGATTTCGTTTTTGGTGGAGAAAGGACAGAGCCAGAGGCTGGGCAGCGAGCGGGGCCTGCTCACCGCTTGGAGATCTCCTGGTAGCGTAGCTGCAGCTTCCCCTGCAGGTCATGCTGTGGGAAGAGGAGAGGAGAGGTCGGCCTGCAAGGCACCCCAGGAGAGAGGAAAGGAGAGGGCAAGGGACCAGGGATGGTCCGGGGATGCGCATTTTAAGGGAAGGCAGGGGATGAACACTCGGGGAAACGGATGTGGGTCCTGCAGGTGAAGAGCAAAGCCAGAGTCCGGGCCCACAGATCCAAGGCTAAGAAGGTCGGGGACTGGGGAAATCCCAGGCCTGAGTGGTTCCCAGGCCAGGAGAGGGTCCCGGGCTGAAGGGGTGACTAGCTGGGGGTTCCCAGGGAGATTCGGGGAGAGCGAAGGGTCCCGGCTTAGGAGGGAGGTGAGGAGCAGGAGCGGGTCCCGGACACACGGAGCCCGAAGCCCCCCATGGTGCAGCCCTGTCCGCCCCGCGCACCCCGGACGCCCAGTTCCGCAGCCGCTGGATGAGACGGGTGGCGGACGCCATCTTCCGTCCGCGATACTGAAGGGCGCAGCCGGTGACGTCTCCACCGCTGGGGCTGCTGGGAAAGACGCGGCGTGGTATCGCGAGACGGGAGTGGGCGGTGCTAGAACGTCCTATAAAGGCTCTCCCCGAAGCACGTGACTCCTCTCCGCCAGACCGCCGCCGCGCCGCCATCATGGACACCAGCCGTGTGCAGCCTATCAAGCTGGCCAGGGTGAGGTGGGGGCCCGAATTTGGGGGCAGGGGGAGGGATTAGAGGAGCCAAACGGGCCGGGTCTGAACCCAGCTTCTTTCCTCCAGGTCACCAAGGTCCTGGGCAGGACCGGTTCTCAGGGACAGTGCACGCAGGTAATCGGGTGGGGGCATTTGGCCGACTGCCGGCGACCTAAACCCTGATGTGACCTCTACCCTGCCCTAACCCCTGCCAGCCGGAATCCGGGAGCCGATTCTCATTTCATCACGGGGTTCTGATGGTTCCCTTTAACGATCTGTATTCTGGCCCCGACACGTTCTCTGAATTCATATCTGCTTCCCACTCCGCGGTGCCTTTCCGCGGCCCGCCCTTACTTCTTCCTCCACTCCGGTGGGGACCCGTAGGTGCGCGTGGAATTCATGGACGACACGAGCCGATCCATCATCCGCAATGTAAAAGGCCCCGTGCGCGAGGGCGACGTGCTCACCCTTTTGGAGTCAGAGCGAGAAGCCCGGAGGTTGCGCTGAGCTTGGCTGCTCGCTGGTGGGTGCAAAGAGGACACCCCTTTGATAGACCTTTGGTTGGTGGTAGGGAGGCTTCGTTAAGCCCAGGGTGAGAGGGTTTGGGAGGCAGAGTCTACATACAGAGACTGACAAGAGGGAGGCGGGAGTTTGCCAATTGCTGCGGGGCCTGTCAACATCTCATGTTTGGGTCTGTTTACAGGGTCTTGGATGTCGGGTTCGACCACTTGGCCGATGGGAATGGTCTGTCACAGTCTGCTCCTTTTTTTTGTCCGCCACACGTAACTGAGATGCTCCTTTAAATAAAGCGTTTGTGTTTCAAGTTAACTCAGGTTCTTGTCTGGGTTATACGACTAGGGTTTCTCCAGGTTTCTTGAGTGGCTCCCAGGCGGTCACCGATCCTCCGCACTCTGGAAATCCTGGCCGTGCGGTCTTGCCAAACGAAGCTTTTCCTTTTTGAGGCGGGGGGTCGTGTTTGTCGATTGCACCCTCTACCCCAAACAAAACACAAGCGTAGTAGGAATGTTTTATTAGCAAAGAAGTTTCAGAGAGTGGGTGGATCAGGGCTCTATCACTTGGTCCCCACCTCACCTTGGTGGGGCCAGAGTGAGCCCCTTCCTGCCACAGTCACCCCAACTGAAATTGCCTTTCTCTTCGGCCAGTGTTAGCCTCTGAGCAGGGGACCCTGGACCCTTCTGTGCGCCAAAGGCTGAGGTGACTGACGAGGAGATCTCCCCACAGCTAGGTGTAGTGAGCCAGACGAGGCAGCTTACTGAACCTGGGGGTTCTCTCCATTGTCACCGCATTCTCCTTCACCAGGTGTGGCTGTCTGGGAGCCAGGGGGTGACTCGCTCTGGAGAGAGGGGAAAAGAGGGGGGCCTGCTGCAATCTCCTTGAGGCAGGAAACGTGGGATTCAGCCCCAGCCTCACTTAGTGGAGGTTCTTTTACCATGGACCCAGGCTGCCTGGTTTGTATCCAACCTCTGCCCCTTCTGACCTGGAAGAGGCGCTTGACCTTCCTCCCACATCCCTTCCAGTGGGGTGAGTACAGGTGTTCCTCAGTTTACAATGGGTTACATTCCGGTGAGTACATCATAGGTTGAAAGTATTGCAAGTTGAAATGTGTTTAATACACCTAATCTCCCAAACATCACAGCTTAGCATGGTCCATCTTAAGCTTGTTCAGAACGCCTTAGCCTGTAGTTGGGGAAACTCGTCTAACACGAAGCCTGTTTTAATAAAGTATTGAATGTCTTATGTAATTTATTGAATACTCTGCTGAAGTGTGGTTTTTACTAAGCACACATTGCTTTTATGCTATCATGAAGTCAAAAAATTGTAAGTTGTGCCAGGCGCGATGGCTCACAGCTGTTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTTCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATTGTGCCGCTGCACTCCAGCCTGGGTGACAGAACGAGACTCTTGTCTTCAAATGAAAAAA
CCGGGAGATGGAGATTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGTTGAAAACAAAGTTTGATACTTCTAATATTTGGAATTAGTCACAACATATAGGCATTTACATAAATTTCATTATTTTAATGCTATTTTTCTTCCTTTCATTATAATCCTCAATGACTGCCTTACCTCTGCCTACCCTTTGACTTCATAGATTATACCATTATCCCTTTCCCTCAATGGGTTCCATCCATACTGGCCTCCTTCCACTCAGGCTCTGTCCAGCCTGACACTCTTAGCCCTTCCTGTTCCCTCTGCTCAGAATGTTTTTTCTTTTTTATTTTTTTGAGACAGAGTGTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAATATCCACCTCCTGTGTTCAAGCGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGACTACCCGCGCGCGCCACCACGCCCGGCTAATTTTTGTATTTCTAGTAGAGAGGGGGTTTTACTGTGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCCAAGTGCTGGGATCACAAGCGTGAGCCACCGCGCCCGGTCAGAATGTTTTTTCAATAATTATTCTTTGAATGGGTCCTTCCCATCATTCAGGGGACTCAACTGTCAATTTCCAAAGAAAGATCTTTCCCAATCATCTGACTTTACGTAGCCACCCTCCAGCTTCCACTTATTTTGTTTTGTCTTCAAAGCATTCCAGAACAATACTACCTGCTGTGTTTGTTTCCCTACTATGCTTCTCCCTAGAATGTGGCGTCCATGAAAGAATGTGGATAAGAACTTTCCTGGTTCACAAAGTTAAACCCAAGGCTGAGGTCATACATGACGGGGGCTTGTAAATATCAACTAATATTTTAATATAAATGAGTCTGAAATCAGGACACTTCTGGGTTCAAGTCCCCGCTGCCACTTTTTAGCTTCTGAGTGACTTGAGGCAAATGATTTCGCCTCTCTGGACCTCTTTTTTCATCTGTAGCTTGGGGATAACACTGACTAACATGGCCACGCTGAGCACTGCAAATCTAGCCTGATTGCCAGTCAGAATGCACGCCCGGCCTCGCTGTTTCAGGAGGGCTGTCCTCCGGAGTTCAGCAAGGTTAAAGGCAAACCTCTGCCTCCACAGCCTGGCAGGGGACTGGTGGCAGGATGTCAGCCCTCCGTTTCAGGGGTCTAAAGGAACACAGATTTCGTTTTTGGTGGAGAAAGGACAGAGCCAGAGGCTGGGCAGCGAGCGGGGCCTGCTCACCGCTTGGAGATCTCCTGGTAGCGTAGCTGCAGCTTCCCCTGCAGGTCATGCTGTGGGAAGAGGAGAGGAGAGGTCGGCCTGCAAGGCACCCCAGGAGAGAGGAAAGGAGAGGGCAAGGGACCAGGGATGGTCCGGGGATGCGCATTTTAAGGGAAGGCAGGGGATGAACACTCGGGGAAACGGATGTGGGTCCTGCAGGTGAAGAGCAAAGCCAGAGTCCGGGCCCACAGATCCAAGGCTAAGAAGGTCGGGGACTGGGGAAATCCCAGGCCTGAGTGGTTCCCAGGCCAGGAGAGGGTCCCGGGCTGAAGGGGTGACTAGCTGGGGGTTCCCAGGGAGATTCGGGGAGAGCGAAGGGTCCCGGCTTAGGAGGGAGGTGAGGAGCAGGAGCGGGTCCCGGACACACGGAGCCCGAAGCCCCCCATGGTGCAGCCCTGTCCGCCCCGCGCACCCCGGACGCCCAGTTCCGCAGCCGCTGGATGAGACGGGTGGCGGACGCCATCTTCCGTCCGCGATACTGAAGGGCGCAGCCGGTGACGTCTCCACCGCTGGGGCTGCTGGGAAAGACGCGGCGTGGTATCGCGAGACGGGAGTGGGCGGTGCTAGAACGTCCTATAAAGGCTCTCCCCGAAGCACGTGACTCCTCTCCGCCAGACCGCCGCCGCGCCGCCATCGTGGACACCAGCCGTGTGCAGCCTATCAAGCTGGCCAGGGTGAGGTGGGGGCCCGAATTTGGGGGCAGGGGGAGGGATTAGAGGAGCCAAACGGGCCGGGTCTGAACCCAGCTTCTTTCCTCCAGGTCACCAAGGTCCTGGGCAGGACCGGTTCTCAGGGACAGTGCACGCAGGTAATCGGGTGGGGGCATTTGGCCGACTGCCGGCGACCTAAACCCTGATGTGACCTCTACCCTGCCCTAACCCCTGCCAGCCGGAATCCGGGAGCCGATTCTCATTTCATCACGGGGTTCTGATGGTTCCCTTTAACGATCTGTATTCTGGCCCCGACACGTTCTCTGAATTCATATCTGCTTCCCACTCCGCGGTGCCTTTCCGCGGCCCGCCCTTACTTCTTCCTCCACTCCGGTGGGGACCCGTAGGTGCGCGTGGAATTCATGGACGACACGAGCCGATCCATCATCCGCAATGTAAAAGGCCCCGTGCGCGAGGGCGACGTGCTCACCCTTTTGGAGTCAGAGCGAGAAGCCCGGAGGTTGCGCTGAGCTTGGCTGCTCGCTGGTGGGTGCAAAGAGGACACCCCTTTGATAGACCTTTGGTTGGTGGTAGGGAGGCTTCGTTAAGCCCAGGGTGAGAGGGTTTGGGAGGCAGAGTCTACATACAGAGACTGACAAGAGGGAGGCGGGAGTTTGCCAATTGCTGCGGGGCCTGTCAACATCTCATGTTTGGGTCTGTTTACAGGGTCTTGGATGTCGGGTTCGACCACTTGGCCGATGGGAATGGTCTGTCACAGTCTGCTCCTTTTTTTTGTCCGCCACACGTAACTGAGATGCTCCTTTAAATAAAGCGTTTGTGTTTCAAGTTAACTCAGGTTCTTGTCTGGGTTATACGACTAGGGTTTCTCCAGGTTTCTTGAGTGGCTCCCAGGCGGTCACCGATCCTCCGCACTCTGGAAATCCTGGCCGTGCGGTCTTGCCAAACGAAGCTTTTCCTTTTTGAGGCGGGGGGTCGTGTTTGTCGATTGCACCCTCTACCCCAAACAAAACACAAGCGTAGTAGGAATGTTTTATTAGCAAAGAAGTTTCAGAGAGTGGGTGGATCAGGGCTCTATCACTTGGTCCCCACCTCACCTTGGTGGGGCCAGAGTGAGCCCCTTCCTGCCACAGTCACCCCAACTGAAATTGCCTTTCTCTTCGGCCAGTGTTAGCCTCTGAGCAGGGGACCCTGGACCCTTCTGTGCGCCAAAGGCTGAGGTGACTGACGAGGAGATCTCCCCACAGCTAGGTGTAGTGAGCCAGACGAGGCAGCTTACTGAACCTGGGGGTTCTCTCCATTGTCACCGCATTCTCCTTCACCAGGTGTGGCTGTCTGGGAGCCAGGGGGTGACTCGCTCTGGAGAGAGGGGAAAAGAGGGGGGCCTGCTGCAATCTCCTTGAGGCAGGAAACGTGGGATTCAGCCCCAGCCTCACTTAGTGGAGGTTCTTTTACCATGGACCCAGGCTGCCTGGTTTGTATCCAACCTCTGCCCCTTCTGACCTGGAAGAGGCGCTTGACCTTCCTCCCACATCCCTTCCAGTGGGGTGAGTACAGGTGTTCCTCAGTTTACAATGGGTTACATTCCGGTGAGTACATCATAGGTTGAAAGTATTGCAAGTTGAAATGTGTTTAATACACCTAATCTCCCAAACATCACAGCTTAGCATGGTCCATCTTAAGCTTGTTCAGAACGCCTTAGCCTGTAGTTGGGGAAACTCGTCTAACACGAAGCCTGTTTTAATAAAGTATTGAATGTCTTATGTAATTTATTGAATACTCTGCTGAAGTGTGGTTTTTACTAAGCACACATTGCTTTTATGCTATCATGAAGTCAAAAAATTGTAAGTTGTGCCAGGCGCGATGGCTCACAGCTGTTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTTCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATTGTGCCGCTGCACTCCAGCCTGGGTGACAGAACGAGACTCTTGTCTTCAAATGAAAAAA
Task1_train_26396
Here is a mutation in ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Weill-Marchesani syndrome 1
TTAGGTGATCCTCCCACCTCAGCCTCTGGAGTAGCTGGGACTACAGGCGTGAGCCACCACACCTGGCTAACTAAAAAACCTTTTTTTTTTTTTTTTTTTTTTTGTAGAGTTGGGGGTCTCCTTAAGTTGCTCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAAGTGCTGGGAGCACCGGTATGAGCCTGGCCAGCTTTTTTTTTTTTTCAGACAGGATCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGTGCGATCATAGGTTACTGCAGCCTTGACCTCCTGGGCTCAAGGGATCCTCCTGCCTCTCAGCCTCTCGAGCAGCTGGAACTACAGGTGTACACCACCACACCCGCCTAATTAAAAGAATTTTGTAGCCGGGCACAGTGGTCACGCCTATAATCCCAGCACATTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATTGAGACCAACCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGTAGGTGGAGCTTGCAGTGAGTTGAGATGGCACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAGAATTTTGTAGAGTTTGGCCGGGTGTGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTTAGGTGGGTGGATCGCTTGAGGTCAGGAGTTCCAGGCCAGCCTGGCCAATATGGTGAAACCCCATCTCTTCTAAAGATACAAAAATTAGCCGGGCATGTAGTGCATGTCTGTAGTCTCAGCTACTTGGGATGGTGAGGCAGGAGAATTTCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCATTCTAGCCTGGGTGACAGATTGAGACTCTGTCTCAAAAAAAATTTTTTTTTTTGTAGAGTTGGGGTCTCCCTAGGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCAAAGCCCTGGGATTACAGGTGTGAGCCACCGTGCCTGTCTCACTTTTGATGCCAGCGGCCAGGCTGCTTATTATAAAACCCCAATGGGACTCTACCTGGGGACTGAAACTCACACTCTGCAACCTACTCCTGCCTCACCTGGACACACTCCCTCCCTCTGACAGTGCCTACGGCTTCCTCAGCCTTCCAGATATTTCCTGAGCCTCCTCCCCTCTTGCCCACTCCCTGGGCTCTCTGTCACTTGCCCAAAGCCCAAGCTGGAAAAGGTGCTTTCTACATTCTCTGAATATCCCCTCCCGTAGTAAGCCTTTCCCTGCTAGCACAGAACATTCATTCTCGCAGCTCCTCTGGCTCACAGAGGATGGAAAGTGATGCTTGCTTCCACCCAGACGTGGCATGAGCTTCTCCAGGAGGCAGAGGAGACAGATTCGGGCTCCTGTCTCCTGAGACACTCTTTTTTTTTTGAGACAGAGCCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCATCCTGCCTCGGCCTCCAAAAGCGATGGGATTATAGGCTTGAGCCACTTCACCTGGCTGAGCCCGCAGGACTTTTGGGGACTCCTGACACTCCACGGGGCCCCTGGGGTCTGAGGAGTTAGTGATCTCAGCTACTGCACTGGGATCAGTTCCACCTGCAGTCAGCTGGCCCATGCAGGGAGTGTGGGAGGGAAGCTGGAGACTCTCACCGGCCCCAGGTGAGGCTGGGCTGAAGACGCCCTCGATGGTCTCGCAGGCACTGCCGTCACCGCCACACACTCGGCACTTGTCCTCCCGCAGGTCGGAGCCCAGGACTCGGTCGCAGCCCACGTGCTGCGTGGAGAAGGCGTGAGTGAGGCGACCCCCTAACCCACCCCCGCTCCCCATCCCCTCTCCACCTCCCTGGGAGTCCCCTCCACCTTGCATTCGCCACTGACGCAAATGTCCACCGTGTCTGGACGGCAGGGTGTCCCGTCCACCACGGCTGCCGCCCTCTCCGTGTAGAAGTTGAAGCCTTCCGCTAGGCACGTGAGCGAGCAGGCCTTCACGCCCCCTGGGGGGCACGGCCCCGTCACACCACGGGCCAGGCCACCCCGGAACTCTTTGCTTGCTCCCTGGGGGAGTGAGGCCAAGAGGGACAGACCCCAGACCCAAGAGGAAGGGCAGCTTGGGCAGAGGGAGTGGGGGCTCCCAGCGTCACGTTGAACCCCCATGGTACCGTATCCCAGGTACTCTGTCTCCCCGGGTGGGGACAGGGCTCAGGGCAGACCCCGGGATGCTGCATTCATCCACCTGCTGCTGGACACTCCCACGGCTGCCCTTCACGGCCCCACAGCCTTTGGAGTCCCACACTCACCTCCCCGGTACGTTTTCCACTTGTAGAATTTCCCACGGAAAGGGATGCTGTCAAATTCAGAACACTGCACTTCTCTGAAGTCCTGGGAGCCAGGGGGACAGTCCTGGGGGCAGGAGAGGAGAGATGGAGGGAGGCCAGGCTTGGGGGGATGGAGTCAGAAAAGGGGTGCTCAGAGAAAGATGGGCTGGAGGAGGGAGGCTAGAGGCAGGGAGGCCAGGGAGGAGGCTGTGGTGGTCTGCGTGAGACTAGGCCTGGAAGGTAGCCTGGGCTGGGCGTGTAGACACATCTGGGATAGGACTGGATCCCTCATTAGAGGTCTGAGGGTGAGCTGGGCAGGACACACCTGGGTTTCTGGTTCCAGGCTATGGAATCTTTCTTGCTTGCTTGCATTTTTTTTCTTTTTTGAGACAGAATCTCACTCTGTCGCCCAGGCTGGGGTACAGTGCATGATCTTAGCTCATTGCAACCTCCATCTCCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACTATGCCTGGCTAATTTTTGCATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTCGCTCTCGTTGCCCTAGTTGGAGTGCAGTGACACAATCTCGGCTCACTGCAACCTCCGCTTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATTGACCCGCCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCTCATCCGGCCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCACCTGGCCACATGGAGTCTTTCTTGAGAGAGAAGGTCTGGAAGGGATCAGGGTTTATAGAAAGTGCTAGCATGTGGATTCTCTGAAGACCTGGTTCCCCCCAGCTGGGAGGCTGAAAAGTCCAAAGCTCTCACTGCCCTCTAAAACACCCCCTCCCCAGTAAACTTCTCACTGCTCACTGATGGTTGCAGGTCAGCTGAGGGCACAAGCAGAGGACAGACACCTGTCACTGGGTTTGGTGAGAGGAAGCTTCAGCTACAACTTTGGGGGATGACAGAAGGCAGGGGTAGGACTCTTCAGGGGAAGTTGGGCTGTAAAGGGAGGGGAGAGACTGGATGGTAGGGGGTTGTGAGGGCCAAGCAGTGATTTCAAGGTGGGGGCTTGTAGTCTAAATGTAGGAGGAAAAGAGAGCTGGAAGGAGCCAGGTCTTTAAGGAGGAGGGGTTGGGGACGAGAAGGTGGTG
TTAGGTGATCCTCCCACCTCAGCCTCTGGAGTAGCTGGGACTACAGGCGTGAGCCACCACACCTGGCTAACTAAAAAACCTTTTTTTTTTTTTTTTTTTTTTTGTAGAGTTGGGGGTCTCCTTAAGTTGCTCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCTTGCCTCAGCCTCCCAAAGTGCTGGGAGCACCGGTATGAGCCTGGCCAGCTTTTTTTTTTTTTCAGACAGGATCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGTGCGATCATAGGTTACTGCAGCCTTGACCTCCTGGGCTCAAGGGATCCTCCTGCCTCTCAGCCTCTCGAGCAGCTGGAACTACAGGTGTACACCACCACACCCGCCTAATTAAAAGAATTTTGTAGCCGGGCACAGTGGTCACGCCTATAATCCCAGCACATTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATTGAGACCAACCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCTCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGTAGGTGGAGCTTGCAGTGAGTTGAGATGGCACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACCCCATCTCAAAAAAAAAAAAAAAAAAAAGAATTTTGTAGAGTTTGGCCGGGTGTGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTTAGGTGGGTGGATCGCTTGAGGTCAGGAGTTCCAGGCCAGCCTGGCCAATATGGTGAAACCCCATCTCTTCTAAAGATACAAAAATTAGCCGGGCATGTAGTGCATGTCTGTAGTCTCAGCTACTTGGGATGGTGAGGCAGGAGAATTTCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCATTCTAGCCTGGGTGACAGATTGAGACTCTGTCTCAAAAAAAATTTTTTTTTTTGTAGAGTTGGGGTCTCCCTAGGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCTCCCGCTTCAGCCTCCCAAAGCCCTGGGATTACAGGTGTGAGCCACCGTGCCTGTCTCACTTTTGATGCCAGCGGCCAGGCTGCTTATTATAAAACCCCAATGGGACTCTACCTGGGGACTGAAACTCACACTCTGCAACCTACTCCTGCCTCACCTGGACACACTCCCTCCCTCTGACAGTGCCTACGGCTTCCTCAGCCTTCCAGATATTTCCTGAGCCTCCTCCCCTCTTGCCCACTCCCTGGGCTCTCTGTCACTTGCCCAAAGCCCAAGCTGGAAAAGGTGCTTTCTACATTCTCTGAATATCCCCTCCCGTAGTAAGCCTTTCCCTGCTAGCACAGAACATTCATTCTCGCAGCTCCTCTGGCTCACAGAGGATGGAAAGTGATGCTTGCTTCCACCCAGACGTGGCATGAGCTTCTCCAGGAGGCAGAGGAGACAGATTCGGGCTCCTGTCTCCTGAGACACTCTTTTTTTTTTGAGACAGAGCCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGCTCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCATCCTGCCTCGGCCTCCAAAAGCGATGGGATTATAGGCTTGAGCCACTTCACCTGGCTGAGCCCGCAGGACTTTTGGGGACTCCTGACACTCCACGGGGCCCCTGGGGTCTGAGGAGTTAGTGATCTCAGCTACTGCACTGGGATCAGTTCCACCTGCAGTCAGCTGGCCCATGCAGGGAGTGTGGGAGGGAAGCTGGAGACTCTCACCGGCCCCAGGTGAGGCTGGGCTGAAGACGCCCTCGATGGTCTCGCAGGCACTGCCGTCACAGCCACACACTCGGCACTTGTCCTCCCGCAGGTCGGAGCCCAGGACTCGGTCGCAGCCCACGTGCTGCGTGGAGAAGGCGTGAGTGAGGCGACCCCCTAACCCACCCCCGCTCCCCATCCCCTCTCCACCTCCCTGGGAGTCCCCTCCACCTTGCATTCGCCACTGACGCAAATGTCCACCGTGTCTGGACGGCAGGGTGTCCCGTCCACCACGGCTGCCGCCCTCTCCGTGTAGAAGTTGAAGCCTTCCGCTAGGCACGTGAGCGAGCAGGCCTTCACGCCCCCTGGGGGGCACGGCCCCGTCACACCACGGGCCAGGCCACCCCGGAACTCTTTGCTTGCTCCCTGGGGGAGTGAGGCCAAGAGGGACAGACCCCAGACCCAAGAGGAAGGGCAGCTTGGGCAGAGGGAGTGGGGGCTCCCAGCGTCACGTTGAACCCCCATGGTACCGTATCCCAGGTACTCTGTCTCCCCGGGTGGGGACAGGGCTCAGGGCAGACCCCGGGATGCTGCATTCATCCACCTGCTGCTGGACACTCCCACGGCTGCCCTTCACGGCCCCACAGCCTTTGGAGTCCCACACTCACCTCCCCGGTACGTTTTCCACTTGTAGAATTTCCCACGGAAAGGGATGCTGTCAAATTCAGAACACTGCACTTCTCTGAAGTCCTGGGAGCCAGGGGGACAGTCCTGGGGGCAGGAGAGGAGAGATGGAGGGAGGCCAGGCTTGGGGGGATGGAGTCAGAAAAGGGGTGCTCAGAGAAAGATGGGCTGGAGGAGGGAGGCTAGAGGCAGGGAGGCCAGGGAGGAGGCTGTGGTGGTCTGCGTGAGACTAGGCCTGGAAGGTAGCCTGGGCTGGGCGTGTAGACACATCTGGGATAGGACTGGATCCCTCATTAGAGGTCTGAGGGTGAGCTGGGCAGGACACACCTGGGTTTCTGGTTCCAGGCTATGGAATCTTTCTTGCTTGCTTGCATTTTTTTTCTTTTTTGAGACAGAATCTCACTCTGTCGCCCAGGCTGGGGTACAGTGCATGATCTTAGCTCATTGCAACCTCCATCTCCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACTATGCCTGGCTAATTTTTGCATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTCGCTCTCGTTGCCCTAGTTGGAGTGCAGTGACACAATCTCGGCTCACTGCAACCTCCGCTTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATTGACCCGCCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCTCATCCGGCCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCACCTGGCCACATGGAGTCTTTCTTGAGAGAGAAGGTCTGGAAGGGATCAGGGTTTATAGAAAGTGCTAGCATGTGGATTCTCTGAAGACCTGGTTCCCCCCAGCTGGGAGGCTGAAAAGTCCAAAGCTCTCACTGCCCTCTAAAACACCCCCTCCCCAGTAAACTTCTCACTGCTCACTGATGGTTGCAGGTCAGCTGAGGGCACAAGCAGAGGACAGACACCTGTCACTGGGTTTGGTGAGAGGAAGCTTCAGCTACAACTTTGGGGGATGACAGAAGGCAGGGGTAGGACTCTTCAGGGGAAGTTGGGCTGTAAAGGGAGGGGAGAGACTGGATGGTAGGGGGTTGTGAGGGCCAAGCAGTGATTTCAAGGTGGGGGCTTGTAGTCTAAATGTAGGAGGAAAAGAGAGCTGGAAGGAGCCAGGTCTTTAAGGAGGAGGGGTTGGGGACGAGAAGGTGGTG
Task1_train_26397
Given a variant located on Chromosome 19 and affecting ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Weill-Marchesani syndrome 1
CTCATCCGGCCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCACCTGGCCACATGGAGTCTTTCTTGAGAGAGAAGGTCTGGAAGGGATCAGGGTTTATAGAAAGTGCTAGCATGTGGATTCTCTGAAGACCTGGTTCCCCCCAGCTGGGAGGCTGAAAAGTCCAAAGCTCTCACTGCCCTCTAAAACACCCCCTCCCCAGTAAACTTCTCACTGCTCACTGATGGTTGCAGGTCAGCTGAGGGCACAAGCAGAGGACAGACACCTGTCACTGGGTTTGGTGAGAGGAAGCTTCAGCTACAACTTTGGGGGATGACAGAAGGCAGGGGTAGGACTCTTCAGGGGAAGTTGGGCTGTAAAGGGAGGGGAGAGACTGGATGGTAGGGGGTTGTGAGGGCCAAGCAGTGATTTCAAGGTGGGGGCTTGTAGTCTAAATGTAGGAGGAAAAGAGAGCTGGAAGGAGCCAGGTCTTTAAGGAGGAGGGGTTGGGGACGAGAAGGTGGTGGGGGTCAGGGAGAGGAGGGAAGAGAGGGGTGGCGGCTGCAGGTTCCCCAGGAGGCAGCAGGTGCCTGGATGAAGCACTCTGATAGCGTTTTTGTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACGGTGCCCGGCCTCTGATAGCTGTTTTTAATGCTTCCTCCCCCCACCCCTCAAGGGGTTTGGGGGAACTCACATCCGTGTTGCAGGAGCGGTGCCGCCTTCTCTCACCCAGACAGTACTTGCCCCCGATGGTTGGCCTGGAAAGGGTGGTGGGATAGGAGAGGGATGAGGCAGTGGGCGATGGGGGCAGGGGTCGCGCTGCCCTCCCGGGTGGGGGTCCTGAGGGCTGACCTGGGGCTGTCGCAGTGACGGCTAGAAGAGGACACGCCGCCGCCACAGGTCCGGCTGCAGTCGCCCCATGGAGTCCACGGCCCCCAGGCTCCGTCCACACCCTCTGGGCGCGACCCAAAGGGGACACAGACCCGTTTGTAGCACCACTGGGTGGGGGGAGACAGGAAGGAGTGAGTCCAGCCCGGAGGACACTCGTCGGCCCCATGCACCGTTCCCCACTCCAGGCCCCAGCCAGAGATATCAGCCTCTCCGGGATGGGCAGAGGCGGGGTCTGAACATGCGAACAGAGTCAGGTTACGTAGGAGAGTGGTCTGGGAGACAGACCAGGTACAAGCGAGAGGCGTGGCCTGAGCACAGGGTGCTTAACGGGGAGGGGTGTAGACAGGACCACGATAAGCGTGGAGACGAGGTGGGGCGTGGCTTCAGGCTGGGGAGGGGAGGTCTACAGGCAGTAGGCGTGGCCAGAGCCGAGGGCAGCACAGGGGATGGGCGTGGCCAATGAGGGAGAGAGCAAACAGTAGGCGTGGCCAGAGCCGTGGGAATCATTACACGGTGGGCGTGGCCAACGCGGGAGGGAGTTAAACAGTAGGCGTGGCCAGAACCAAGGGACGCATAGACGGTGGGCGTGGCCAACGCGGGAAGGAGCAAGCAGTAGGCGTGGCCACAGCCGAGGGAGCACAAATGGCGGGCGTGGCCAATGTGGGAGGGAGCAGATAATAGGCCGAAGGACAGGCGGGTAGGCGTGGCCAACGCGGGAGGTGGCTCAGGGGGCGTGGCCCAGTTGGGGGCCCTGGCCGGCGCTCACCCCCTTGTCGATGGTGTGCGTCTGGCACAGCGTGCCCTCGGCGGCCGGGATGCTGTTGGTGATGCACCGGTTGCTCTTGCTCAGACACCACAGCTCGCTGCAGACCTCCTGCGGGCCGAGGTGCCCGCTCAGGCTCGCCCCCCTCCCTTCCTCCCTGGGGCAGCCCGCCCGGCTTGGGAGGACCCAGATGTCCGGCTCACTGCCGGTCCCAGAGCAGAGAGCCCGGTGCTCCCTTCCTGGCTCGCGGTGGGTCTTCGTGCATCCCCTTGCGGGGCATGGCCTGTGACTTATACTCTCCCAATAAGCTCCATTTATGGAGCACTTTATACATGCCATATACCTCTTTAGGCAGTACTACCCCATCTTACTGGGAGAAAACCAAGCTTCAGACAGGTAAGGTCACACAGCTACTAAGGGAATAGCCTGGAGTTTAACCCAGCTCTTTAATTCAGAGTCTGTGCTCTAACGAACTTTGCAATTCAGTTCCTGGTGCCTTCTGAGTTTCTGGAAGGAAACGTGGGAACTGCTGAGGAATGAACAGGAAGGATTTGGGGTTCTTTTATGGGATGGGCAAAGTAGCCGAAGAGAAAGTGGTGGTTCTGAGAAATCGGCCTGGATGATGACTAGGCCAACGGCCTCATCTCTAGTTTTTTCCAGCTGTTGGTTCTCTTTGTTCCCCCATCTAAACTGGAGAAGCCCCCAACACTTTTAAGCTATGTGGAGGGGTGGGAGTTTGGGAGGGGACAATGCCGAGTTAGGTCTGTGTGGGACATGCCTCTCTTTCTCCAGGTGAAAAATCAGCCCCACCTTCTTCCCGTCTGAATCCTGGATGGGCTGAACTAGTCCCAGGGACTCACTCTGACTCTTAAAGTCCAGGTTAATATCCCTGGAGAAGCCCCAGTGAGTTCAGGTGAAGCAAAATCTCTGACCCTCTTGGCCCACATCCTAAGCAACCTCCCAGCGTCTTTCCTCTAAAAAGTAGGTGGTCCTCTCTGACCCTCTTGGCCCACATCCTAAGCAACCTCCCAGCGTCTTTCCTCTAAGAAGTAGGTGGTCCTTCTGTAATTATCAAGTGTAATCCCCGCTTTGAACCCAATTCTTGTAAGCTTTCCAGATGTGGGACTGGATCGATCAATGGCCACAGGAAAGGACCCTTCCTAGGTCAGCCCCTGAGAGATACCTGTACATATGTAAGAAGCTGGAAGAGTTGTTCTCAAATACATTCTCCCTCAAAGGTCCTCTAGAATCTCTGCCTTCTGCCTTATAGAGGACATTTCTCAGCTAAAAACTCAGACTGTGTCCTCTTGGCCATATCTAAAAATATCACATCAGTCCTGTCGCAATCCCACTTCTGACACCTCTTCAAGATAATGATTTCAGCTCTGCTTTTGTCCTCCTCTCCACAAGGAGGCACTGTGGCATATTTGAGTTGTGCAGAGACCTCAATTCTGCTACCAACTTGCAATATATTTCCCCTCTCTGGGCCTCAGTTTACTCATCTACAAGATGGGCAGCCTAATGCCTGTCTTGCCTATATAAATGGCTATGAGGCACGTGACAGGATAGATAAGAAAGGACTTGCACCAATGCCATTATGGGGTAACAATGACCACCACTATCTCTGGACCAGGCACCAGGCTGAACCCTTTACATATATTAACCAGTTCACATTTAGTAAATAAATCCCCCTTTGCCAAGATGGCCTGAAAGATGTTCCTTCAAAAACTAAAAGGAAGGCTCAATTCAACATATAGCCAGTGCCAGCCCAAGCTTGATATTTTGACAGCTCCTCCCCTCCCCTGCCCCTTTGTAAAATTTAGAGAGTCATGAGAGACCTGGATTTAAATCCCAGCTCTGTCATGGTCTCAAACTGTGGCCTTGGACAAGTCATCCTCCCTATGCTATGGCTCAGTCCCTTCCTCTGTAACGTGGGGGCTAGCAGGATTGTCAGGAGTTTAGATGGTGACACACAGCACATGCTTAGCCCATAGTGAGAGCTCAGTAAATGTCAGACACCATGATCATTGTTAGGATACCTGGGTCACAGCAGATGTTGAGGAGTAGCTTCAGAATTCTTTAGGA
CTCATCCGGCCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCACCTGGCCACATGGAGTCTTTCTTGAGAGAGAAGGTCTGGAAGGGATCAGGGTTTATAGAAAGTGCTAGCATGTGGATTCTCTGAAGACCTGGTTCCCCCCAGCTGGGAGGCTGAAAAGTCCAAAGCTCTCACTGCCCTCTAAAACACCCCCTCCCCAGTAAACTTCTCACTGCTCACTGATGGTTGCAGGTCAGCTGAGGGCACAAGCAGAGGACAGACACCTGTCACTGGGTTTGGTGAGAGGAAGCTTCAGCTACAACTTTGGGGGATGACAGAAGGCAGGGGTAGGACTCTTCAGGGGAAGTTGGGCTGTAAAGGGAGGGGAGAGACTGGATGGTAGGGGGTTGTGAGGGCCAAGCAGTGATTTCAAGGTGGGGGCTTGTAGTCTAAATGTAGGAGGAAAAGAGAGCTGGAAGGAGCCAGGTCTTTAAGGAGGAGGGGTTGGGGACGAGAAGGTGGTGGGGGTCAGGGAGAGGAGGGAAGAGAGGGGTGGCGGCTGCAGGTTCCCCAGGAGGCAGCAGGTGCCTGGATGAAGCACTCTGATAGCGTTTTTGTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACGGTGCCCGGCCTCTGATAGCTGTTTTTAATGCTTCCTCCCCCCACCCCTCAAGGGGTTTGGGGGAACTCACATCCGTGTTGCAGGAGCGGTGCCGCCTTCTCTCACCCAGACAGTACTTGCCCCCGATGGTTGGCCTGGAAAGGGTGGTGGGATAGGAGAGGGATGAGGCAGTGGGCGATGGGGGCAGGGGTCGCGCTGCCCTCCCGGGTGGGGGTCCTGAGGGCTGACCTGGGGCTGTCGCAGTGACGGCTAGAAGAGGACACGCCGCCGCCACAGGTCCGGCTGCAGTCGCCCCATGGAGTCCACGGCCCCCAGGCTCCGTCCACACCCTCTGGGCGCGACCCAAAGGGGACACAGACCCGTTTGTAGCACCACTGGGTGGGGGGAGACAGGAAGGAGTGAGTCCAGCCCGGAGGACACTCGTCGGCCCCATGCACCGTTCCCCACTCCAGGCCCCAGCCAGAGATATCAGCCTCTCCGGGATGGGCAGAGGCGGGGTCTGAACATGCGAACAGAGTCAGGTTACGTAGGAGAGTGGTCTGGGAGACAGACCAGGTACAAGCGAGAGGCGTGGCCTGAGCACAGGGTGCTTAACGGGGAGGGGTGTAGACAGGACCACGATAAGCGTGGAGACGAGGTGGGGCGTGGCTTCAGGCTGGGGAGGGGAGGTCTACAGGCAGTAGGCGTGGCCAGAGCCGAGGGCAGCACAGGGGATGGGCGTGGCCAATGAGGGAGAGAGCAAACAGTAGGCGTGGCCAGAGCCGTGGGAATCATTACACGGTGGGCGTGGCCAACGCGGGAGGGAGTTAAACAGTAGGCGTGGCCAGAACCAAGGGACGCATAGACGGTGGGCGTGGCCAACGCGGGAAGGAGCAAGCAGTAGGCGTGGCCACAGCCGAGGGAGCACAAATGGCGGGCGTGGCCAATGTGGGAGGGAGCAGATAATAGGCCGAAGGACAGGCGGGTAGGCGTGGCCAACGCGGGAGGTGGCTCAGGGGGCGTGGCCCAGTTGGGGGCCCTGGCCGGCGCTCACCCCCTTGTCGATGGTGTGCGTCTGGCACAGCGTGTCCTCGGCGGCCGGGATGCTGTTGGTGATGCACCGGTTGCTCTTGCTCAGACACCACAGCTCGCTGCAGACCTCCTGCGGGCCGAGGTGCCCGCTCAGGCTCGCCCCCCTCCCTTCCTCCCTGGGGCAGCCCGCCCGGCTTGGGAGGACCCAGATGTCCGGCTCACTGCCGGTCCCAGAGCAGAGAGCCCGGTGCTCCCTTCCTGGCTCGCGGTGGGTCTTCGTGCATCCCCTTGCGGGGCATGGCCTGTGACTTATACTCTCCCAATAAGCTCCATTTATGGAGCACTTTATACATGCCATATACCTCTTTAGGCAGTACTACCCCATCTTACTGGGAGAAAACCAAGCTTCAGACAGGTAAGGTCACACAGCTACTAAGGGAATAGCCTGGAGTTTAACCCAGCTCTTTAATTCAGAGTCTGTGCTCTAACGAACTTTGCAATTCAGTTCCTGGTGCCTTCTGAGTTTCTGGAAGGAAACGTGGGAACTGCTGAGGAATGAACAGGAAGGATTTGGGGTTCTTTTATGGGATGGGCAAAGTAGCCGAAGAGAAAGTGGTGGTTCTGAGAAATCGGCCTGGATGATGACTAGGCCAACGGCCTCATCTCTAGTTTTTTCCAGCTGTTGGTTCTCTTTGTTCCCCCATCTAAACTGGAGAAGCCCCCAACACTTTTAAGCTATGTGGAGGGGTGGGAGTTTGGGAGGGGACAATGCCGAGTTAGGTCTGTGTGGGACATGCCTCTCTTTCTCCAGGTGAAAAATCAGCCCCACCTTCTTCCCGTCTGAATCCTGGATGGGCTGAACTAGTCCCAGGGACTCACTCTGACTCTTAAAGTCCAGGTTAATATCCCTGGAGAAGCCCCAGTGAGTTCAGGTGAAGCAAAATCTCTGACCCTCTTGGCCCACATCCTAAGCAACCTCCCAGCGTCTTTCCTCTAAAAAGTAGGTGGTCCTCTCTGACCCTCTTGGCCCACATCCTAAGCAACCTCCCAGCGTCTTTCCTCTAAGAAGTAGGTGGTCCTTCTGTAATTATCAAGTGTAATCCCCGCTTTGAACCCAATTCTTGTAAGCTTTCCAGATGTGGGACTGGATCGATCAATGGCCACAGGAAAGGACCCTTCCTAGGTCAGCCCCTGAGAGATACCTGTACATATGTAAGAAGCTGGAAGAGTTGTTCTCAAATACATTCTCCCTCAAAGGTCCTCTAGAATCTCTGCCTTCTGCCTTATAGAGGACATTTCTCAGCTAAAAACTCAGACTGTGTCCTCTTGGCCATATCTAAAAATATCACATCAGTCCTGTCGCAATCCCACTTCTGACACCTCTTCAAGATAATGATTTCAGCTCTGCTTTTGTCCTCCTCTCCACAAGGAGGCACTGTGGCATATTTGAGTTGTGCAGAGACCTCAATTCTGCTACCAACTTGCAATATATTTCCCCTCTCTGGGCCTCAGTTTACTCATCTACAAGATGGGCAGCCTAATGCCTGTCTTGCCTATATAAATGGCTATGAGGCACGTGACAGGATAGATAAGAAAGGACTTGCACCAATGCCATTATGGGGTAACAATGACCACCACTATCTCTGGACCAGGCACCAGGCTGAACCCTTTACATATATTAACCAGTTCACATTTAGTAAATAAATCCCCCTTTGCCAAGATGGCCTGAAAGATGTTCCTTCAAAAACTAAAAGGAAGGCTCAATTCAACATATAGCCAGTGCCAGCCCAAGCTTGATATTTTGACAGCTCCTCCCCTCCCCTGCCCCTTTGTAAAATTTAGAGAGTCATGAGAGACCTGGATTTAAATCCCAGCTCTGTCATGGTCTCAAACTGTGGCCTTGGACAAGTCATCCTCCCTATGCTATGGCTCAGTCCCTTCCTCTGTAACGTGGGGGCTAGCAGGATTGTCAGGAGTTTAGATGGTGACACACAGCACATGCTTAGCCCATAGTGAGAGCTCAGTAAATGTCAGACACCATGATCATTGTTAGGATACCTGGGTCACAGCAGATGTTGAGGAGTAGCTTCAGAATTCTTTAGGA
Task1_train_26398
A variant on Chromosome 19 in gene ACTL9 (actin like 9) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Spermatogenic failure 53
TGGAGGTCCGGATGTCCTTCAGGCTGGGCTAGGGGGCATGAAGACAGAGGGTCCTACCTCCAGAGGGGACCCAGGACGCTCGCCATCCTGAGAGGCTGGATTCCCCCTCCCGACCCTGGCAGGGACAGGGTGGGGTGGGAGAGGCCTCCTCGAGCATCCTCAGTGCACAACCCAGAGAAAGCTCATGGGACTGAGAGGAACAGGCTGAGAGATGGACTTTTAATGGAATGGAGGGAGATGGGGATGCATAGCCTGGGACACATGGGCCCTGGGTGCCTGTGCTGGGGCGAGTGAGAGAGCCAGTGTCCAGGTGAAGCTCCTTGCCTGGGGCATCTGCCCCATGACTGCAGTGGACTGGGAAGCCCTTAAGAGTATCACTACCCACTGATGTCCAAGTCTTGCTTGATAGTATGGTGTCCAGGGAATGGTCTTGGGGAGTGGGTTCCGGAGAGCCTGTGAGAGTTCCAGGGCGGGGTGCACATCATGGGGTGCCTGGGAGGGTATCTTTGGGAGAGTCTGTGGAGGAGGGAGTTGGGAGGTGTTGGAACACAGAGGAGGGCCTAGGGTCTAGTGGGGTCGTTATAGGATGCTCATGGGGACCTGAGCATGACATTTGGGAGGCTGGCTCTTTCCTGGGAGGAGCTGGGGGCTGAGGAAGAGGGTCAGGAAGTGTCCTGTGAGAGAGAACATTTGGGAGTATTTCGGGCGGAGACACAGTGCAAGAAAGTGGTCTTAGAGCAACAGGGGTCCACCCTGGGGTTTCGGGGGTGGATCTCAGAATGATGTGTTTTGGGAAGATGGATGGGGGATGGGTGATGGGACCACCTGGTCAGTGGAGGTGGGGCCAGGGGAGGTCTGGGGGAAAAATCCTGAGGGGAGGGGAGAGTTCTGCAGGGATGATGGATGCCAGGGGCATCCCATGGTGGGACCATTGTAGGAGAAACCCTTGAAAGTCAGAATTCAGGTCTCTGTGATGGATCTGGGGGGTCAGCACTTGTGGGGGGCATCCTAGGGGAAACCAATGAAGAGGTGGATTTGGGGTGCTGAGAACCAGGGGTATCTTGACAAGTGGAATCTTGACAAGTGGAATTTAAGAGTGTGTTTGGGGGGATTAGAAATAAGGGGAAGATTATGGGGGTGCACCCAGGGGTTGGAGCACTCACGGGAAGATTCTGGGAGGAGGTTGGAGCATTCCGGGGTAGAGACTGGGTTGGGGGGTCCCTGAGGAGCATACTAAGGGGGGTGGCAGTTTGGAGGGTTTGGAGCCCAGGGGTATTTTGGGATGCTATATCAAAAGCAATAGATAATGGGGTGAGATTAGGGAGTCAGTATTTGAGGATGTCTTGGGCACATAGTGGGTAATTAATGAATGTATGTGGGATCAATGCATGAATCACTTAAACTAGAAATGGAAGGAATTGGGTATGTGGCTTGGGTATGTGGCAGACCCTAGGGGTGTGTGTGGGCATGGGGTGGGTGGTCAGAGGCTTTCATGTTCTTCATGTTTGGGGTTGGGGGCAGGTGCCAGGTGGAGGCTTATCTATGACTCATAGGAGGAGGTGATATTTCTAACAATAGCCTTGAGGTAGTGAACTCCCCATCTCTGGGAGTGTGTAAATGGGAAGGGCACTTGTCAGAGGTGGTCTGGGGAGGGGGTGTCCCAACCCAAGGGTGCCTGGGGAGGGGCACAGATCACAGGAGGATGGGTTGACAGGATTAGAACTTAGTGGTCTGTTGGGAGTTATTCATGGGGAAGGTGGGTTTAGGGGGTCAGGATTGGGGTGTCTCAGGGCATGCATCACAGGAGGTGAGTTAGGTCAGCCTGTGGGGCGAGGTGCCCAGGAGTGGATGGGGCAGGCCCTGGAGGAAGGACAGGACAGAGCCGGCTGTAGCAGAGGCTTTACTGCCCCCACGCCCTCCCCAGCTCTGCCCTGGTCAGTAGCATTTGCGGTACACGATATAGGGACCCTGTTCCTCGTACTGCTCCCGCAGGACCCAGCAGGACTGGAAGGCGCGCAGGGAGGCCAGGATGGAGCCCCCGATCCATACGGAGAAATTCCTGGTGGGCTGGGCAGCCACCACCACGTGGGTCTCGGCTGGCAGAGCGCGCAGCAGCTCTGCCCGGAAGCGACCCTCGAAGCCGGTGAAGAGCGAGGACCCACCGCAGAGAAGCACGTTTTGGGCCAAGTCCGCGCGCATCTCCAGTGACAACTTGCGGAGACTCTGCTTGGCCATGGTGGAGAGGCCGACGGGTGACAGCCCCGGGACCTCTGGGGGGTTGAACAGCAGCTCCGGACACTGGAACAGCTCCTTGCCCAGGGTGACCGTGCGCCCATCGGGCAGCTTCAGAGTCCGCTTGTACTCCTGCTCCGGCCGGGCCTGCTCCTTCTGGAAGTCGGAGGCCACGTAGCAATAGTGGTGCTTAATGTTCTCCACTAGGTCCAGGTCCTGCTGTCCCAGGGGCAGGCCGGCCTGGAGCAGCATCTCCGCCAGGAAGGCGGTCAGGTTGTTGCCCGCCAGGTCCAGACGCTCCGTGGCGTGGAGCAGGTTGTAGCCCTGGAAGACGGGCACTGTGTAGGTGACCCCGTGTCCCGTGTCCACCACCAGCCCGCTGACACGACCGTGGGCGTAGACAGACAGCACCGACTGCGATGCCACGTACATGGCTGGGGAGCGCAGCGACTCGAAGGCCACCTCCACTAGCTTCTCGCGGTTGGTGGCCGGGCTGAAGGGTGGGTCGGAGAACAGCAGCGGGTGGTCGTGGGTGGCCACTCGGAGGTCGTGCTCCAGCAGGTGGCGCCAGATGAGCTCGGCGGCATCCCAGTCCACGACGATGCCGCTGCGCAGGGGTTGCACCAGCGTCAGCTCTGGGAGCACGCGGGCTGCCTCGCCGATGAACGTCTGCAGCCCGGACTGCCCCGAGGTGGCGGGTTTCTTGGGCTGGCAGCCCAGGATGGTGGCCACGGTGTAGGTGGGGCTGGCCTGCCCAGCAAAACCTACCTTACAGGTGCCTGTGCCCATGTCAATAACCACCGCGCCGGTCTTTGGTGGCAGCCTGTCGGCCACCATGCCGGGGGAGTCCCGCTGCAGGGGCTTGTTCACCACGTTGGGACTGGGGTTTGGGCCGGGCCTGGGGGCCTCCAGGGAGGACTGGGATTCCGAGGACTTGGGGCGACTTGCATCCATGGTTGCGGGACGCCAGGTGAGGGGGCTTTTCCTCTGGGGTTGGGGTTGCGGGGAGAAGAGGTTGAGGCCCGGCCAGTGGGGAGGGCAGGCAGACAGGGGGAGGGGTGGGCCCGCAATCTATGACGTCACGGTGCCCCTTCAGTCTTCTTAAGACATCACAATGCAGCCAAGAGGATGGGTCCCTGCCCAGCCCTGCCTGCCCAAAGGCTGTCATCTCTTCTCTGAAGAGCCAAATTTGGAGGAGGAGATGAGCATCTCAGAGCAGGGCCCTCTTAACACATTTCTGTCGGATGCGCTAGAAGCTAATACGATGGCACCTGGTTTTTGAGAAAAGACAAGCTTTTTGTTGCATGTCAACCCACTGGGAGCTAGGAATCCAGCACAAGTCTGTTTCTCAGCTGGCTTTAAGGCAGTAATTTTATTAGAAAAGTTCTGGGGCCGGGGGCTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGGTGGGAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCGTCTCTACCAAAAAATACAAAAATTAGCCTGGCATGGTGGCGCATGCCTGTGGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGAAGTGAACCAAGATCATGCCACCGCACTCCAGGCTGGGGGATGGAGTGAGACTCTGTCTCAAAAGAAAAAGAAAATAAAAGAAAAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCCAAGATCATGCTACTGCACTCCAGCCTGTATGACAGAGCGAGACTCATCTCAAAACAAACAAACAAA
TGGAGGTCCGGATGTCCTTCAGGCTGGGCTAGGGGGCATGAAGACAGAGGGTCCTACCTCCAGAGGGGACCCAGGACGCTCGCCATCCTGAGAGGCTGGATTCCCCCTCCCGACCCTGGCAGGGACAGGGTGGGGTGGGAGAGGCCTCCTCGAGCATCCTCAGTGCACAACCCAGAGAAAGCTCATGGGACTGAGAGGAACAGGCTGAGAGATGGACTTTTAATGGAATGGAGGGAGATGGGGATGCATAGCCTGGGACACATGGGCCCTGGGTGCCTGTGCTGGGGCGAGTGAGAGAGCCAGTGTCCAGGTGAAGCTCCTTGCCTGGGGCATCTGCCCCATGACTGCAGTGGACTGGGAAGCCCTTAAGAGTATCACTACCCACTGATGTCCAAGTCTTGCTTGATAGTATGGTGTCCAGGGAATGGTCTTGGGGAGTGGGTTCCGGAGAGCCTGTGAGAGTTCCAGGGCGGGGTGCACATCATGGGGTGCCTGGGAGGGTATCTTTGGGAGAGTCTGTGGAGGAGGGAGTTGGGAGGTGTTGGAACACAGAGGAGGGCCTAGGGTCTAGTGGGGTCGTTATAGGATGCTCATGGGGACCTGAGCATGACATTTGGGAGGCTGGCTCTTTCCTGGGAGGAGCTGGGGGCTGAGGAAGAGGGTCAGGAAGTGTCCTGTGAGAGAGAACATTTGGGAGTATTTCGGGCGGAGACACAGTGCAAGAAAGTGGTCTTAGAGCAACAGGGGTCCACCCTGGGGTTTCGGGGGTGGATCTCAGAATGATGTGTTTTGGGAAGATGGATGGGGGATGGGTGATGGGACCACCTGGTCAGTGGAGGTGGGGCCAGGGGAGGTCTGGGGGAAAAATCCTGAGGGGAGGGGAGAGTTCTGCAGGGATGATGGATGCCAGGGGCATCCCATGGTGGGACCATTGTAGGAGAAACCCTTGAAAGTCAGAATTCAGGTCTCTGTGATGGATCTGGGGGGTCAGCACTTGTGGGGGGCATCCTAGGGGAAACCAATGAAGAGGTGGATTTGGGGTGCTGAGAACCAGGGGTATCTTGACAAGTGGAATCTTGACAAGTGGAATTTAAGAGTGTGTTTGGGGGGATTAGAAATAAGGGGAAGATTATGGGGGTGCACCCAGGGGTTGGAGCACTCACGGGAAGATTCTGGGAGGAGGTTGGAGCATTCCGGGGTAGAGACTGGGTTGGGGGGTCCCTGAGGAGCATACTAAGGGGGGTGGCAGTTTGGAGGGTTTGGAGCCCAGGGGTATTTTGGGATGCTATATCAAAAGCAATAGATAATGGGGTGAGATTAGGGAGTCAGTATTTGAGGATGTCTTGGGCACATAGTGGGTAATTAATGAATGTATGTGGGATCAATGCATGAATCACTTAAACTAGAAATGGAAGGAATTGGGTATGTGGCTTGGGTATGTGGCAGACCCTAGGGGTGTGTGTGGGCATGGGGTGGGTGGTCAGAGGCTTTCATGTTCTTCATGTTTGGGGTTGGGGGCAGGTGCCAGGTGGAGGCTTATCTATGACTCATAGGAGGAGGTGATATTTCTAACAATAGCCTTGAGGTAGTGAACTCCCCATCTCTGGGAGTGTGTAAATGGGAAGGGCACTTGTCAGAGGTGGTCTGGGGAGGGGGTGTCCCAACCCAAGGGTGCCTGGGGAGGGGCACAGATCACAGGAGGATGGGTTGACAGGATTAGAACTTAGTGGTCTGTTGGGAGTTATTCATGGGGAAGGTGGGTTTAGGGGGTCAGGATTGGGGTGTCTCAGGGCATGCATCACAGGAGGTGAGTTAGGTCAGCCTGTGGGGCGAGGTGCCCAGGAGTGGATGGGGCAGGCCCTGGAGGAAGGACAGGACAGAGCCGGCTGTAGCAGAGGCTTTACTGCCCCCACGCCCTCCCCAGCTCTGCCCTGGTCAGTAGCATTTGCGGTACACGATATAGGGACCCTGTTCCTCGTACTGCTCCCGCAGGACCCAGCAGGACTGGAAGGCGCGCAGGGAGGCCAGGATGGAGCCCCCGATCCATAAGGAGAAATTCCTGGTGGGCTGGGCAGCCACCACCACGTGGGTCTCGGCTGGCAGAGCGCGCAGCAGCTCTGCCCGGAAGCGACCCTCGAAGCCGGTGAAGAGCGAGGACCCACCGCAGAGAAGCACGTTTTGGGCCAAGTCCGCGCGCATCTCCAGTGACAACTTGCGGAGACTCTGCTTGGCCATGGTGGAGAGGCCGACGGGTGACAGCCCCGGGACCTCTGGGGGGTTGAACAGCAGCTCCGGACACTGGAACAGCTCCTTGCCCAGGGTGACCGTGCGCCCATCGGGCAGCTTCAGAGTCCGCTTGTACTCCTGCTCCGGCCGGGCCTGCTCCTTCTGGAAGTCGGAGGCCACGTAGCAATAGTGGTGCTTAATGTTCTCCACTAGGTCCAGGTCCTGCTGTCCCAGGGGCAGGCCGGCCTGGAGCAGCATCTCCGCCAGGAAGGCGGTCAGGTTGTTGCCCGCCAGGTCCAGACGCTCCGTGGCGTGGAGCAGGTTGTAGCCCTGGAAGACGGGCACTGTGTAGGTGACCCCGTGTCCCGTGTCCACCACCAGCCCGCTGACACGACCGTGGGCGTAGACAGACAGCACCGACTGCGATGCCACGTACATGGCTGGGGAGCGCAGCGACTCGAAGGCCACCTCCACTAGCTTCTCGCGGTTGGTGGCCGGGCTGAAGGGTGGGTCGGAGAACAGCAGCGGGTGGTCGTGGGTGGCCACTCGGAGGTCGTGCTCCAGCAGGTGGCGCCAGATGAGCTCGGCGGCATCCCAGTCCACGACGATGCCGCTGCGCAGGGGTTGCACCAGCGTCAGCTCTGGGAGCACGCGGGCTGCCTCGCCGATGAACGTCTGCAGCCCGGACTGCCCCGAGGTGGCGGGTTTCTTGGGCTGGCAGCCCAGGATGGTGGCCACGGTGTAGGTGGGGCTGGCCTGCCCAGCAAAACCTACCTTACAGGTGCCTGTGCCCATGTCAATAACCACCGCGCCGGTCTTTGGTGGCAGCCTGTCGGCCACCATGCCGGGGGAGTCCCGCTGCAGGGGCTTGTTCACCACGTTGGGACTGGGGTTTGGGCCGGGCCTGGGGGCCTCCAGGGAGGACTGGGATTCCGAGGACTTGGGGCGACTTGCATCCATGGTTGCGGGACGCCAGGTGAGGGGGCTTTTCCTCTGGGGTTGGGGTTGCGGGGAGAAGAGGTTGAGGCCCGGCCAGTGGGGAGGGCAGGCAGACAGGGGGAGGGGTGGGCCCGCAATCTATGACGTCACGGTGCCCCTTCAGTCTTCTTAAGACATCACAATGCAGCCAAGAGGATGGGTCCCTGCCCAGCCCTGCCTGCCCAAAGGCTGTCATCTCTTCTCTGAAGAGCCAAATTTGGAGGAGGAGATGAGCATCTCAGAGCAGGGCCCTCTTAACACATTTCTGTCGGATGCGCTAGAAGCTAATACGATGGCACCTGGTTTTTGAGAAAAGACAAGCTTTTTGTTGCATGTCAACCCACTGGGAGCTAGGAATCCAGCACAAGTCTGTTTCTCAGCTGGCTTTAAGGCAGTAATTTTATTAGAAAAGTTCTGGGGCCGGGGGCTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGGTGGGAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCGTCTCTACCAAAAAATACAAAAATTAGCCTGGCATGGTGGCGCATGCCTGTGGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGAAGTGAACCAAGATCATGCCACCGCACTCCAGGCTGGGGGATGGAGTGAGACTCTGTCTCAAAAGAAAAAGAAAATAAAAGAAAAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCCAAGATCATGCTACTGCACTCCAGCCTGTATGACAGAGCGAGACTCATCTCAAAACAAACAAACAAA
Task1_train_26399
Assess the clinical impact of this variant on gene ACTL9 (actin like 9), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Spermatogenic failure 53
CCCTCCCGACCCTGGCAGGGACAGGGTGGGGTGGGAGAGGCCTCCTCGAGCATCCTCAGTGCACAACCCAGAGAAAGCTCATGGGACTGAGAGGAACAGGCTGAGAGATGGACTTTTAATGGAATGGAGGGAGATGGGGATGCATAGCCTGGGACACATGGGCCCTGGGTGCCTGTGCTGGGGCGAGTGAGAGAGCCAGTGTCCAGGTGAAGCTCCTTGCCTGGGGCATCTGCCCCATGACTGCAGTGGACTGGGAAGCCCTTAAGAGTATCACTACCCACTGATGTCCAAGTCTTGCTTGATAGTATGGTGTCCAGGGAATGGTCTTGGGGAGTGGGTTCCGGAGAGCCTGTGAGAGTTCCAGGGCGGGGTGCACATCATGGGGTGCCTGGGAGGGTATCTTTGGGAGAGTCTGTGGAGGAGGGAGTTGGGAGGTGTTGGAACACAGAGGAGGGCCTAGGGTCTAGTGGGGTCGTTATAGGATGCTCATGGGGACCTGAGCATGACATTTGGGAGGCTGGCTCTTTCCTGGGAGGAGCTGGGGGCTGAGGAAGAGGGTCAGGAAGTGTCCTGTGAGAGAGAACATTTGGGAGTATTTCGGGCGGAGACACAGTGCAAGAAAGTGGTCTTAGAGCAACAGGGGTCCACCCTGGGGTTTCGGGGGTGGATCTCAGAATGATGTGTTTTGGGAAGATGGATGGGGGATGGGTGATGGGACCACCTGGTCAGTGGAGGTGGGGCCAGGGGAGGTCTGGGGGAAAAATCCTGAGGGGAGGGGAGAGTTCTGCAGGGATGATGGATGCCAGGGGCATCCCATGGTGGGACCATTGTAGGAGAAACCCTTGAAAGTCAGAATTCAGGTCTCTGTGATGGATCTGGGGGGTCAGCACTTGTGGGGGGCATCCTAGGGGAAACCAATGAAGAGGTGGATTTGGGGTGCTGAGAACCAGGGGTATCTTGACAAGTGGAATCTTGACAAGTGGAATTTAAGAGTGTGTTTGGGGGGATTAGAAATAAGGGGAAGATTATGGGGGTGCACCCAGGGGTTGGAGCACTCACGGGAAGATTCTGGGAGGAGGTTGGAGCATTCCGGGGTAGAGACTGGGTTGGGGGGTCCCTGAGGAGCATACTAAGGGGGGTGGCAGTTTGGAGGGTTTGGAGCCCAGGGGTATTTTGGGATGCTATATCAAAAGCAATAGATAATGGGGTGAGATTAGGGAGTCAGTATTTGAGGATGTCTTGGGCACATAGTGGGTAATTAATGAATGTATGTGGGATCAATGCATGAATCACTTAAACTAGAAATGGAAGGAATTGGGTATGTGGCTTGGGTATGTGGCAGACCCTAGGGGTGTGTGTGGGCATGGGGTGGGTGGTCAGAGGCTTTCATGTTCTTCATGTTTGGGGTTGGGGGCAGGTGCCAGGTGGAGGCTTATCTATGACTCATAGGAGGAGGTGATATTTCTAACAATAGCCTTGAGGTAGTGAACTCCCCATCTCTGGGAGTGTGTAAATGGGAAGGGCACTTGTCAGAGGTGGTCTGGGGAGGGGGTGTCCCAACCCAAGGGTGCCTGGGGAGGGGCACAGATCACAGGAGGATGGGTTGACAGGATTAGAACTTAGTGGTCTGTTGGGAGTTATTCATGGGGAAGGTGGGTTTAGGGGGTCAGGATTGGGGTGTCTCAGGGCATGCATCACAGGAGGTGAGTTAGGTCAGCCTGTGGGGCGAGGTGCCCAGGAGTGGATGGGGCAGGCCCTGGAGGAAGGACAGGACAGAGCCGGCTGTAGCAGAGGCTTTACTGCCCCCACGCCCTCCCCAGCTCTGCCCTGGTCAGTAGCATTTGCGGTACACGATATAGGGACCCTGTTCCTCGTACTGCTCCCGCAGGACCCAGCAGGACTGGAAGGCGCGCAGGGAGGCCAGGATGGAGCCCCCGATCCATACGGAGAAATTCCTGGTGGGCTGGGCAGCCACCACCACGTGGGTCTCGGCTGGCAGAGCGCGCAGCAGCTCTGCCCGGAAGCGACCCTCGAAGCCGGTGAAGAGCGAGGACCCACCGCAGAGAAGCACGTTTTGGGCCAAGTCCGCGCGCATCTCCAGTGACAACTTGCGGAGACTCTGCTTGGCCATGGTGGAGAGGCCGACGGGTGACAGCCCCGGGACCTCTGGGGGGTTGAACAGCAGCTCCGGACACTGGAACAGCTCCTTGCCCAGGGTGACCGTGCGCCCATCGGGCAGCTTCAGAGTCCGCTTGTACTCCTGCTCCGGCCGGGCCTGCTCCTTCTGGAAGTCGGAGGCCACGTAGCAATAGTGGTGCTTAATGTTCTCCACTAGGTCCAGGTCCTGCTGTCCCAGGGGCAGGCCGGCCTGGAGCAGCATCTCCGCCAGGAAGGCGGTCAGGTTGTTGCCCGCCAGGTCCAGACGCTCCGTGGCGTGGAGCAGGTTGTAGCCCTGGAAGACGGGCACTGTGTAGGTGACCCCGTGTCCCGTGTCCACCACCAGCCCGCTGACACGACCGTGGGCGTAGACAGACAGCACCGACTGCGATGCCACGTACATGGCTGGGGAGCGCAGCGACTCGAAGGCCACCTCCACTAGCTTCTCGCGGTTGGTGGCCGGGCTGAAGGGTGGGTCGGAGAACAGCAGCGGGTGGTCGTGGGTGGCCACTCGGAGGTCGTGCTCCAGCAGGTGGCGCCAGATGAGCTCGGCGGCATCCCAGTCCACGACGATGCCGCTGCGCAGGGGTTGCACCAGCGTCAGCTCTGGGAGCACGCGGGCTGCCTCGCCGATGAACGTCTGCAGCCCGGACTGCCCCGAGGTGGCGGGTTTCTTGGGCTGGCAGCCCAGGATGGTGGCCACGGTGTAGGTGGGGCTGGCCTGCCCAGCAAAACCTACCTTACAGGTGCCTGTGCCCATGTCAATAACCACCGCGCCGGTCTTTGGTGGCAGCCTGTCGGCCACCATGCCGGGGGAGTCCCGCTGCAGGGGCTTGTTCACCACGTTGGGACTGGGGTTTGGGCCGGGCCTGGGGGCCTCCAGGGAGGACTGGGATTCCGAGGACTTGGGGCGACTTGCATCCATGGTTGCGGGACGCCAGGTGAGGGGGCTTTTCCTCTGGGGTTGGGGTTGCGGGGAGAAGAGGTTGAGGCCCGGCCAGTGGGGAGGGCAGGCAGACAGGGGGAGGGGTGGGCCCGCAATCTATGACGTCACGGTGCCCCTTCAGTCTTCTTAAGACATCACAATGCAGCCAAGAGGATGGGTCCCTGCCCAGCCCTGCCTGCCCAAAGGCTGTCATCTCTTCTCTGAAGAGCCAAATTTGGAGGAGGAGATGAGCATCTCAGAGCAGGGCCCTCTTAACACATTTCTGTCGGATGCGCTAGAAGCTAATACGATGGCACCTGGTTTTTGAGAAAAGACAAGCTTTTTGTTGCATGTCAACCCACTGGGAGCTAGGAATCCAGCACAAGTCTGTTTCTCAGCTGGCTTTAAGGCAGTAATTTTATTAGAAAAGTTCTGGGGCCGGGGGCTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGGTGGGAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCGTCTCTACCAAAAAATACAAAAATTAGCCTGGCATGGTGGCGCATGCCTGTGGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGAAGTGAACCAAGATCATGCCACCGCACTCCAGGCTGGGGGATGGAGTGAGACTCTGTCTCAAAAGAAAAAGAAAATAAAAGAAAAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCCAAGATCATGCTACTGCACTCCAGCCTGTATGACAGAGCGAGACTCATCTCAAAACAAACAAACAAACAAACAAAGAAACAAACAAAAAACCCTCATAAGTGGAAGGCATTTCAGCAAGTTGTTTCTTTTTTGATCTGCCATTCTGCAAGCTCAAACATTTCTTTGGGGCA
CCCTCCCGACCCTGGCAGGGACAGGGTGGGGTGGGAGAGGCCTCCTCGAGCATCCTCAGTGCACAACCCAGAGAAAGCTCATGGGACTGAGAGGAACAGGCTGAGAGATGGACTTTTAATGGAATGGAGGGAGATGGGGATGCATAGCCTGGGACACATGGGCCCTGGGTGCCTGTGCTGGGGCGAGTGAGAGAGCCAGTGTCCAGGTGAAGCTCCTTGCCTGGGGCATCTGCCCCATGACTGCAGTGGACTGGGAAGCCCTTAAGAGTATCACTACCCACTGATGTCCAAGTCTTGCTTGATAGTATGGTGTCCAGGGAATGGTCTTGGGGAGTGGGTTCCGGAGAGCCTGTGAGAGTTCCAGGGCGGGGTGCACATCATGGGGTGCCTGGGAGGGTATCTTTGGGAGAGTCTGTGGAGGAGGGAGTTGGGAGGTGTTGGAACACAGAGGAGGGCCTAGGGTCTAGTGGGGTCGTTATAGGATGCTCATGGGGACCTGAGCATGACATTTGGGAGGCTGGCTCTTTCCTGGGAGGAGCTGGGGGCTGAGGAAGAGGGTCAGGAAGTGTCCTGTGAGAGAGAACATTTGGGAGTATTTCGGGCGGAGACACAGTGCAAGAAAGTGGTCTTAGAGCAACAGGGGTCCACCCTGGGGTTTCGGGGGTGGATCTCAGAATGATGTGTTTTGGGAAGATGGATGGGGGATGGGTGATGGGACCACCTGGTCAGTGGAGGTGGGGCCAGGGGAGGTCTGGGGGAAAAATCCTGAGGGGAGGGGAGAGTTCTGCAGGGATGATGGATGCCAGGGGCATCCCATGGTGGGACCATTGTAGGAGAAACCCTTGAAAGTCAGAATTCAGGTCTCTGTGATGGATCTGGGGGGTCAGCACTTGTGGGGGGCATCCTAGGGGAAACCAATGAAGAGGTGGATTTGGGGTGCTGAGAACCAGGGGTATCTTGACAAGTGGAATCTTGACAAGTGGAATTTAAGAGTGTGTTTGGGGGGATTAGAAATAAGGGGAAGATTATGGGGGTGCACCCAGGGGTTGGAGCACTCACGGGAAGATTCTGGGAGGAGGTTGGAGCATTCCGGGGTAGAGACTGGGTTGGGGGGTCCCTGAGGAGCATACTAAGGGGGGTGGCAGTTTGGAGGGTTTGGAGCCCAGGGGTATTTTGGGATGCTATATCAAAAGCAATAGATAATGGGGTGAGATTAGGGAGTCAGTATTTGAGGATGTCTTGGGCACATAGTGGGTAATTAATGAATGTATGTGGGATCAATGCATGAATCACTTAAACTAGAAATGGAAGGAATTGGGTATGTGGCTTGGGTATGTGGCAGACCCTAGGGGTGTGTGTGGGCATGGGGTGGGTGGTCAGAGGCTTTCATGTTCTTCATGTTTGGGGTTGGGGGCAGGTGCCAGGTGGAGGCTTATCTATGACTCATAGGAGGAGGTGATATTTCTAACAATAGCCTTGAGGTAGTGAACTCCCCATCTCTGGGAGTGTGTAAATGGGAAGGGCACTTGTCAGAGGTGGTCTGGGGAGGGGGTGTCCCAACCCAAGGGTGCCTGGGGAGGGGCACAGATCACAGGAGGATGGGTTGACAGGATTAGAACTTAGTGGTCTGTTGGGAGTTATTCATGGGGAAGGTGGGTTTAGGGGGTCAGGATTGGGGTGTCTCAGGGCATGCATCACAGGAGGTGAGTTAGGTCAGCCTGTGGGGCGAGGTGCCCAGGAGTGGATGGGGCAGGCCCTGGAGGAAGGACAGGACAGAGCCGGCTGTAGCAGAGGCTTTACTGCCCCCACGCCCTCCCCAGCTCTGCCCTGGTCAGTAGCATTTGCGGTACACGATATAGGGACCCTGTTCCTCGTACTGCTCCCGCAGGACCCAGCAGGACTGGAAGGCGCGCAGGGAGGCCAGGATGGAGCCCCCGATCCATACGGAGAAATTCCTGGTGGGCTGGGCAGCCACCACCACGTGGGTCTCGGCTGGCAGAGCGCGCAGCAGCTCTGCCCGGAAGCGACCCTCGAAGCCGGTGAAGAGCAAGGACCCACCGCAGAGAAGCACGTTTTGGGCCAAGTCCGCGCGCATCTCCAGTGACAACTTGCGGAGACTCTGCTTGGCCATGGTGGAGAGGCCGACGGGTGACAGCCCCGGGACCTCTGGGGGGTTGAACAGCAGCTCCGGACACTGGAACAGCTCCTTGCCCAGGGTGACCGTGCGCCCATCGGGCAGCTTCAGAGTCCGCTTGTACTCCTGCTCCGGCCGGGCCTGCTCCTTCTGGAAGTCGGAGGCCACGTAGCAATAGTGGTGCTTAATGTTCTCCACTAGGTCCAGGTCCTGCTGTCCCAGGGGCAGGCCGGCCTGGAGCAGCATCTCCGCCAGGAAGGCGGTCAGGTTGTTGCCCGCCAGGTCCAGACGCTCCGTGGCGTGGAGCAGGTTGTAGCCCTGGAAGACGGGCACTGTGTAGGTGACCCCGTGTCCCGTGTCCACCACCAGCCCGCTGACACGACCGTGGGCGTAGACAGACAGCACCGACTGCGATGCCACGTACATGGCTGGGGAGCGCAGCGACTCGAAGGCCACCTCCACTAGCTTCTCGCGGTTGGTGGCCGGGCTGAAGGGTGGGTCGGAGAACAGCAGCGGGTGGTCGTGGGTGGCCACTCGGAGGTCGTGCTCCAGCAGGTGGCGCCAGATGAGCTCGGCGGCATCCCAGTCCACGACGATGCCGCTGCGCAGGGGTTGCACCAGCGTCAGCTCTGGGAGCACGCGGGCTGCCTCGCCGATGAACGTCTGCAGCCCGGACTGCCCCGAGGTGGCGGGTTTCTTGGGCTGGCAGCCCAGGATGGTGGCCACGGTGTAGGTGGGGCTGGCCTGCCCAGCAAAACCTACCTTACAGGTGCCTGTGCCCATGTCAATAACCACCGCGCCGGTCTTTGGTGGCAGCCTGTCGGCCACCATGCCGGGGGAGTCCCGCTGCAGGGGCTTGTTCACCACGTTGGGACTGGGGTTTGGGCCGGGCCTGGGGGCCTCCAGGGAGGACTGGGATTCCGAGGACTTGGGGCGACTTGCATCCATGGTTGCGGGACGCCAGGTGAGGGGGCTTTTCCTCTGGGGTTGGGGTTGCGGGGAGAAGAGGTTGAGGCCCGGCCAGTGGGGAGGGCAGGCAGACAGGGGGAGGGGTGGGCCCGCAATCTATGACGTCACGGTGCCCCTTCAGTCTTCTTAAGACATCACAATGCAGCCAAGAGGATGGGTCCCTGCCCAGCCCTGCCTGCCCAAAGGCTGTCATCTCTTCTCTGAAGAGCCAAATTTGGAGGAGGAGATGAGCATCTCAGAGCAGGGCCCTCTTAACACATTTCTGTCGGATGCGCTAGAAGCTAATACGATGGCACCTGGTTTTTGAGAAAAGACAAGCTTTTTGTTGCATGTCAACCCACTGGGAGCTAGGAATCCAGCACAAGTCTGTTTCTCAGCTGGCTTTAAGGCAGTAATTTTATTAGAAAAGTTCTGGGGCCGGGGGCTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCGAGGTGGGAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCGTCTCTACCAAAAAATACAAAAATTAGCCTGGCATGGTGGCGCATGCCTGTGGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGAAGTGAACCAAGATCATGCCACCGCACTCCAGGCTGGGGGATGGAGTGAGACTCTGTCTCAAAAGAAAAAGAAAATAAAAGAAAAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGGTTGCAGCGAGCCAAGATCATGCTACTGCACTCCAGCCTGTATGACAGAGCGAGACTCATCTCAAAACAAACAAACAAACAAACAAAGAAACAAACAAAAAACCCTCATAAGTGGAAGGCATTTCAGCAAGTTGTTTCTTTTTTGATCTGCCATTCTGCAAGCTCAAACATTTCTTTGGGGCA