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_22200
A sequence alteration has been identified in CCNF (cyclin F) on Chromosome 16. Is it disease-inducing or harmless?
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
AGATCCACGCCTTCCTCAGCTCTCCCTCGGGGCGGAGAACCAAACGGTTAGTTACCCTGCGTTCTGGCTGCGCCATACAATGCTGGCATCCTCGTGCCGGCCCAGTTCCCTCAGCGCTTCCTCACACAGAGAGGCCCCCAAGGCTTGTCAGGGGAGCAGCAGATCCCAGGACAGTGACCCTGGGACGGAGCCCTGCAGTCATGCCTCGGGCCCCTGCGTAACCTCCACTGTCTCCAGCCCAGGTCTCCTTCCTCAGAGGCTATTGCCTCTCGCTCTGACTGGGCTCCCTGTGGAGGAAGATGGTTTCGAGCACGCGGGAGCCTAGCCTGGCTCTAGCCCTGCCCGTGCCTGTCATGCGCGTCCTGGACTTCTCTGCTCCATGATGCTGCTGTCACTCCCGGCACTCGAGCTGTGACCTGAGTCACATCCCCAGCACTTCCCTCGCCACCCGTGTGGACCTGTTTACCCGCCTCTCCTATCTCAGCACCTTGGCTGTTCCTCCTGGAGTTAACTTCCTCTTTCTACCTCACCCGCCTGGAGAACTCCTACTGATTCCACAAGGCCCCGATGAACAGGGCCCTCCCTGTGCTGCTGGCCCTGCGCCGTGACCCCTCAGCACCATGTGCACCAGTAACCTTCCCAAGGGCAGGCACTGGGTGGCTGGGTCTTTCCTGTCAATATAGGACCAGGCAGGGCTGCCTCCAGAAGCGTTGTGTCGGGAGTGGGCTCCTGGCAGGAGACCTCAACTCCTGGGGAGCCCTGGGGAAGCAGCCAAAGCCCCTGCTGCTGCTTCCTCCCCAAGAAGCGTGACAGCACTTTCCATTGTGTGGAAGGCAGGAGACCTGACCCTCCTGTGTCACTCCACACACGCACCGACTCCCTGGGGCCAGGGTCATCACGAGGAAAGTCCATGCAGATACGCACGGCTACTCCAGGAGGGGGCCTGGCCCTGGCCCTGTGCTCAGCCTCGCTGTGTTAAACCCGCTTCTCAGAGGCCCCCCACAGCCCCATCAGTCTTCTGAGACAGACCCCCACGGGTGACACTGGGATAGCTCTCTCCACCCCCCGCCCTCCACCAGGCCCTGGGGTCAGGAAGTGGAAAGGCTCAGCTGGTGTGGCGGCTTTTCCCAGGCTCACGCCCACACACTGGCCTCTAGCCCCATCCTGAGCAAGACTTGACCCCAGTTGGGTGTGGGTGTCAGCACCGCCCAAGGCCAGGCCATTCCATGCAATCTGCCTGGCGCCGGGCTAAGCACTGCCTGCACCTTATTAATCAACACCAGAGGGGCCGGGTGCGGTTGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTTAGGAGTTCGAGACCAACCTGCCCATCATGGTGAAACCCCGTTTCTACTAAAAATATAAAAATTAGCTGGGTGTGATGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGACTCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGCAAGAACACCTCAAAAAAAAAAAAAAAAAAAAAAAAACACTGGAAGGTGGCATCATCCTAGAGGTTTCCAGGGGACCAGATGGTTGGCCCACGCCCCACAGCTGAGCCGGGTGGGCTGGGCTTCACACCCAGACCTGGGGCCTGAGTTTGCCTGAGCTGTCCTCCAGGTTGGCCCTGCCTGAAGGGCTTATACCTGTTCTAGCTTCACCGGCATCTTCTTCGTAGCAGAACCTTTGGGAGCACGTGGTGACAGGCTGGGGCACGCGGGTGTTAGAGGCAGGTGTGGAGGGCCTGGCCTCCCAGCGCCGCCGTCCATGACTGGGTCTCCTGGGCTCTCTCCACCTTGCAGGAAGCGGGAGAACAGCCTCCAGGAAGACAGAGGCAGCTTCGTTACCACCCCCACTGCGGAGCTGTCCAGCCAGGAGGAGACGCTGCTGGGCAGCTTCCTCGACTGGAGCCTGGACTGCTGCTCTGGCTATGAAGGCGACCAGGAGAGTGAGGGCGAGAAGGAGGGCGACGGTGAGTGTGGGGCCAGGGTGCACCAGAAGGGACATCACACAGAGGGTGGCTCTCACCGAGGGCCTCTGGGCACCCGGCCCTGTGCGAGCGCTGTGGGAGGAAGATGTGCACAGAGTGCGGGGTGGGGCCAGCTCCTGCCCCGCCGGGGAGTGTGTCCAGACATGGGGAGAGAGGAGGGGAGAGCCCCCAAAAGACCACAGCTGCTCCCACCACACAGGGATGAGAGGACTTAGGCCACACCTATCCGGCTCCTGCTCATTCCGTGTTGGGAGGACCTCACTAGGATGAGGGAGGCAGAGACCCTGTCTGGAGTTCATGGAGATCCTTCTAGGCCTGTAGTCTCATGCCTGTAATCCCAGCAATTTGAGAGGCTGAGGCAGGAGGATCACTTCAGGCTAGAAGTTCAAGACCAGCCTGGGTGACACAGCAAGACAAAAAATTTAAAAATTAGCTGGGCATCGTGGCGTGCGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCACAGGAGGTGGGAGCTGCAGTGAGCCGTGATCATGCCACTGCACTGTAGCCTGGGCGTTCTTTCTAGAATGTTGTTTGAGGTGTGCCCACGTGGTATACGTGACACTCCTCACTGCCCTGCTGGGATCACTGCCCTGTGCAAACCCCAGGCAGACTGCGGGGTCCTTGCCAGAAGCCCAGTTAGTGTGAGTCCTGTCAGTTTCCCGGTTGCTTGCTTCTGCGTCCACTTGGCTTGAGCTAGATGGCCAACTTGTCATCTCCACATTTGTTGGAGTCATGGCGGGCAGCTGTCCAACTTGGAAGAGGCATGTCACCCACGCTTCTCACCACAGGAGGGTAACACAGGGGACCGTAGCAAGGTAGAAGATTCTTGACCTGGACTTCAGGGTCCTGACCTGGCAGGGGGTCTCCCCTGATGCTTGGGTGTGACATGACTTCCCTCCCCACCAACCTTCCTGCAGTGACAGCTCCCAGCGGCATCCTCGATGTCACCGTGGTCTACCTGAACCCAGAACAGCATTGCTGCCAGGAATCCAGTGATGAGGAGGCTTGTCCAGAGGACAAGGGACCCCAGGACCCACAGGCACTGGCGCTGGACACCCAGATCCCTGCAACCCCTGGACCCAAACCCCTGGTCCGCACCAGCCGGGAGCCAGGGAAGGACGTCACGACCTCAGGGTACTCCTCCGTCAGCACCGCAAGTCCCACAAGCTCCGTGGACGGTGGCTTGGGGGCCCTGCCCCAACCTACCTCAGTGCTGTCCCTGGACAGTGACTCGCACACACAGCCCTGCCACCATCAGGCCAGGAAGTCATGTTTACAGTGTCGTCCCCCAAGTCCCCCGGAGAGCAGTGTTCCCCAGCAACAGGTGAAGCGGATAAACCTATGCATACACAGTGAGGAGGAGGACATGAACCTGGGCCTTGTGAGGCTGTAAGTGTGTCAGCACATTTGCCGCAGTGGATGTGTACTGAGGGGGCTGGAGGCGAAGGGTGGGAGCATAGCATAGGAACGCTGCATAGACCATGGAGGCCTTTGCGCAGAGAGCAGAGAGGATGACTTGCGGCCACCAAGTTTCTGTCTCCGCGGGAGTCCCGTGCAAGCCATCAGAATGTTGAAATGAGGGTGAAGAGCTCAGATCCCTCTCTTTGGAAAGTTTAGCCTGGAAGCAGTTGGCCACACTGTGTGGAGGGCACCTCTCTGTCCCTTCCGTGTCTCACTGTCTCTGGAAGCTTCAGCCCATGTGTGTCCTGGTGTTCCCAGCCCCACCAGAGCCCCGTGCCGGGAGCTGACAGCTTTCACGCTTAAGGCACGTGTGACCTGGGTAGTCAGACACCACTTGAGCCCCTGCCCACATCTGCTGGTTTGGGGCTTCAGTGGGGAGCTGACAGCTGTGAGCACACCACTGTCCCCTCATCCACCTCGGCCTGCATGGGGCACCCACTTCCTTCTGGGTGGGGCTTCCATGGTAAGGGGGCCTGCGTCCCTGCACACTGCGAGGACT
AGATCCACGCCTTCCTCAGCTCTCCCTCGGGGCGGAGAACCAAACGGTTAGTTACCCTGCGTTCTGGCTGCGCCATACAATGCTGGCATCCTCGTGCCGGCCCAGTTCCCTCAGCGCTTCCTCACACAGAGAGGCCCCCAAGGCTTGTCAGGGGAGCAGCAGATCCCAGGACAGTGACCCTGGGACGGAGCCCTGCAGTCATGCCTCGGGCCCCTGCGTAACCTCCACTGTCTCCAGCCCAGGTCTCCTTCCTCAGAGGCTATTGCCTCTCGCTCTGACTGGGCTCCCTGTGGAGGAAGATGGTTTCGAGCACGCGGGAGCCTAGCCTGGCTCTAGCCCTGCCCGTGCCTGTCATGCGCGTCCTGGACTTCTCTGCTCCATGATGCTGCTGTCACTCCCGGCACTCGAGCTGTGACCTGAGTCACATCCCCAGCACTTCCCTCGCCACCCGTGTGGACCTGTTTACCCGCCTCTCCTATCTCAGCACCTTGGCTGTTCCTCCTGGAGTTAACTTCCTCTTTCTACCTCACCCGCCTGGAGAACTCCTACTGATTCCACAAGGCCCCGATGAACAGGGCCCTCCCTGTGCTGCTGGCCCTGCGCCGTGACCCCTCAGCACCATGTGCACCAGTAACCTTCCCAAGGGCAGGCACTGGGTGGCTGGGTCTTTCCTGTCAATATAGGACCAGGCAGGGCTGCCTCCAGAAGCGTTGTGTCGGGAGTGGGCTCCTGGCAGGAGACCTCAACTCCTGGGGAGCCCTGGGGAAGCAGCCAAAGCCCCTGCTGCTGCTTCCTCCCCAAGAAGCGTGACAGCACTTTCCATTGTGTGGAAGGCAGGAGACCTGACCCTCCTGTGTCACTCCACACACGCACCGACTCCCTGGGGCCAGGGTCATCACGAGGAAAGTCCATGCAGATACGCACGGCTACTCCAGGAGGGGGCCTGGCCCTGGCCCTGTGCTCAGCCTCGCTGTGTTAAACCCGCTTCTCAGAGGCCCCCCACAGCCCCATCAGTCTTCTGAGACAGACCCCCACGGGTGACACTGGGATAGCTCTCTCCACCCCCCGCCCTCCACCAGGCCCTGGGGTCAGGAAGTGGAAAGGCTCAGCTGGTGTGGCGGCTTTTCCCAGGCTCACGCCCACACACTGGCCTCTAGCCCCATCCTGAGCAAGACTTGACCCCAGTTGGGTGTGGGTGTCAGCACCGCCCAAGGCCAGGCCATTCCATGCAATCTGCCTGGCGCCGGGCTAAGCACTGCCTGCACCTTATTAATCAACACCAGAGGGGCCGGGTGCGGTTGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTTAGGAGTTCGAGACCAACCTGCCCATCATGGTGAAACCCCGTTTCTACTAAAAATATAAAAATTAGCTGGGTGTGATGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGACTCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGCAAGAACACCTCAAAAAAAAAAAAAAAAAAAAAAAAACACTGGAAGGTGGCATCATCCTAGAGGTTTCCAGGGGACCAGATGGTTGGCCCACGCCCCACAGCTGAGCCGGGTGGGCTGGGCTTCACACCCAGACCTGGGGCCTGAGTTTGCCTGAGCTGTCCTCCAGGTTGGCCCTGCCTGAAGGGCTTATACCTGTTCTAGCTTCACCGGCATCTTCTTCGTAGCAGAACCTTTGGGAGCACGTGGTGACAGGCTGGGGCACGCGGGTGTTAGAGGCAGGTGTGGAGGGCCTGGCCTCCCAGCGCCGCCGTCCATGACTGGGTCTCCTGGGCTCTCTCCACCTTGCAGGAAGCGGGAGAACAGCCTCCAGGAAGACAGAGGCAGCTTCGTTACCACCCCCACTGCGGAGCTGTCCAGCCAGGAGGAGACGCTGCTGGGCAGCTTCCTCGACTGGAGCCTGGACTGCTGCTCTGGCTATGAAGGCGACCAGGAGGGTGAGGGCGAGAAGGAGGGCGACGGTGAGTGTGGGGCCAGGGTGCACCAGAAGGGACATCACACAGAGGGTGGCTCTCACCGAGGGCCTCTGGGCACCCGGCCCTGTGCGAGCGCTGTGGGAGGAAGATGTGCACAGAGTGCGGGGTGGGGCCAGCTCCTGCCCCGCCGGGGAGTGTGTCCAGACATGGGGAGAGAGGAGGGGAGAGCCCCCAAAAGACCACAGCTGCTCCCACCACACAGGGATGAGAGGACTTAGGCCACACCTATCCGGCTCCTGCTCATTCCGTGTTGGGAGGACCTCACTAGGATGAGGGAGGCAGAGACCCTGTCTGGAGTTCATGGAGATCCTTCTAGGCCTGTAGTCTCATGCCTGTAATCCCAGCAATTTGAGAGGCTGAGGCAGGAGGATCACTTCAGGCTAGAAGTTCAAGACCAGCCTGGGTGACACAGCAAGACAAAAAATTTAAAAATTAGCTGGGCATCGTGGCGTGCGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCACAGGAGGTGGGAGCTGCAGTGAGCCGTGATCATGCCACTGCACTGTAGCCTGGGCGTTCTTTCTAGAATGTTGTTTGAGGTGTGCCCACGTGGTATACGTGACACTCCTCACTGCCCTGCTGGGATCACTGCCCTGTGCAAACCCCAGGCAGACTGCGGGGTCCTTGCCAGAAGCCCAGTTAGTGTGAGTCCTGTCAGTTTCCCGGTTGCTTGCTTCTGCGTCCACTTGGCTTGAGCTAGATGGCCAACTTGTCATCTCCACATTTGTTGGAGTCATGGCGGGCAGCTGTCCAACTTGGAAGAGGCATGTCACCCACGCTTCTCACCACAGGAGGGTAACACAGGGGACCGTAGCAAGGTAGAAGATTCTTGACCTGGACTTCAGGGTCCTGACCTGGCAGGGGGTCTCCCCTGATGCTTGGGTGTGACATGACTTCCCTCCCCACCAACCTTCCTGCAGTGACAGCTCCCAGCGGCATCCTCGATGTCACCGTGGTCTACCTGAACCCAGAACAGCATTGCTGCCAGGAATCCAGTGATGAGGAGGCTTGTCCAGAGGACAAGGGACCCCAGGACCCACAGGCACTGGCGCTGGACACCCAGATCCCTGCAACCCCTGGACCCAAACCCCTGGTCCGCACCAGCCGGGAGCCAGGGAAGGACGTCACGACCTCAGGGTACTCCTCCGTCAGCACCGCAAGTCCCACAAGCTCCGTGGACGGTGGCTTGGGGGCCCTGCCCCAACCTACCTCAGTGCTGTCCCTGGACAGTGACTCGCACACACAGCCCTGCCACCATCAGGCCAGGAAGTCATGTTTACAGTGTCGTCCCCCAAGTCCCCCGGAGAGCAGTGTTCCCCAGCAACAGGTGAAGCGGATAAACCTATGCATACACAGTGAGGAGGAGGACATGAACCTGGGCCTTGTGAGGCTGTAAGTGTGTCAGCACATTTGCCGCAGTGGATGTGTACTGAGGGGGCTGGAGGCGAAGGGTGGGAGCATAGCATAGGAACGCTGCATAGACCATGGAGGCCTTTGCGCAGAGAGCAGAGAGGATGACTTGCGGCCACCAAGTTTCTGTCTCCGCGGGAGTCCCGTGCAAGCCATCAGAATGTTGAAATGAGGGTGAAGAGCTCAGATCCCTCTCTTTGGAAAGTTTAGCCTGGAAGCAGTTGGCCACACTGTGTGGAGGGCACCTCTCTGTCCCTTCCGTGTCTCACTGTCTCTGGAAGCTTCAGCCCATGTGTGTCCTGGTGTTCCCAGCCCCACCAGAGCCCCGTGCCGGGAGCTGACAGCTTTCACGCTTAAGGCACGTGTGACCTGGGTAGTCAGACACCACTTGAGCCCCTGCCCACATCTGCTGGTTTGGGGCTTCAGTGGGGAGCTGACAGCTGTGAGCACACCACTGTCCCCTCATCCACCTCGGCCTGCATGGGGCACCCACTTCCTTCTGGGTGGGGCTTCCATGGTAAGGGGGCCTGCGTCCCTGCACACTGCGAGGACT
Task1_train_22201
Gene LOC105371050, CCNF (uncharacterized LOC105371050| cyclin F) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
CCTTCCTCAGCTCTCCCTCGGGGCGGAGAACCAAACGGTTAGTTACCCTGCGTTCTGGCTGCGCCATACAATGCTGGCATCCTCGTGCCGGCCCAGTTCCCTCAGCGCTTCCTCACACAGAGAGGCCCCCAAGGCTTGTCAGGGGAGCAGCAGATCCCAGGACAGTGACCCTGGGACGGAGCCCTGCAGTCATGCCTCGGGCCCCTGCGTAACCTCCACTGTCTCCAGCCCAGGTCTCCTTCCTCAGAGGCTATTGCCTCTCGCTCTGACTGGGCTCCCTGTGGAGGAAGATGGTTTCGAGCACGCGGGAGCCTAGCCTGGCTCTAGCCCTGCCCGTGCCTGTCATGCGCGTCCTGGACTTCTCTGCTCCATGATGCTGCTGTCACTCCCGGCACTCGAGCTGTGACCTGAGTCACATCCCCAGCACTTCCCTCGCCACCCGTGTGGACCTGTTTACCCGCCTCTCCTATCTCAGCACCTTGGCTGTTCCTCCTGGAGTTAACTTCCTCTTTCTACCTCACCCGCCTGGAGAACTCCTACTGATTCCACAAGGCCCCGATGAACAGGGCCCTCCCTGTGCTGCTGGCCCTGCGCCGTGACCCCTCAGCACCATGTGCACCAGTAACCTTCCCAAGGGCAGGCACTGGGTGGCTGGGTCTTTCCTGTCAATATAGGACCAGGCAGGGCTGCCTCCAGAAGCGTTGTGTCGGGAGTGGGCTCCTGGCAGGAGACCTCAACTCCTGGGGAGCCCTGGGGAAGCAGCCAAAGCCCCTGCTGCTGCTTCCTCCCCAAGAAGCGTGACAGCACTTTCCATTGTGTGGAAGGCAGGAGACCTGACCCTCCTGTGTCACTCCACACACGCACCGACTCCCTGGGGCCAGGGTCATCACGAGGAAAGTCCATGCAGATACGCACGGCTACTCCAGGAGGGGGCCTGGCCCTGGCCCTGTGCTCAGCCTCGCTGTGTTAAACCCGCTTCTCAGAGGCCCCCCACAGCCCCATCAGTCTTCTGAGACAGACCCCCACGGGTGACACTGGGATAGCTCTCTCCACCCCCCGCCCTCCACCAGGCCCTGGGGTCAGGAAGTGGAAAGGCTCAGCTGGTGTGGCGGCTTTTCCCAGGCTCACGCCCACACACTGGCCTCTAGCCCCATCCTGAGCAAGACTTGACCCCAGTTGGGTGTGGGTGTCAGCACCGCCCAAGGCCAGGCCATTCCATGCAATCTGCCTGGCGCCGGGCTAAGCACTGCCTGCACCTTATTAATCAACACCAGAGGGGCCGGGTGCGGTTGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTTAGGAGTTCGAGACCAACCTGCCCATCATGGTGAAACCCCGTTTCTACTAAAAATATAAAAATTAGCTGGGTGTGATGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGACTCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGCAAGAACACCTCAAAAAAAAAAAAAAAAAAAAAAAAACACTGGAAGGTGGCATCATCCTAGAGGTTTCCAGGGGACCAGATGGTTGGCCCACGCCCCACAGCTGAGCCGGGTGGGCTGGGCTTCACACCCAGACCTGGGGCCTGAGTTTGCCTGAGCTGTCCTCCAGGTTGGCCCTGCCTGAAGGGCTTATACCTGTTCTAGCTTCACCGGCATCTTCTTCGTAGCAGAACCTTTGGGAGCACGTGGTGACAGGCTGGGGCACGCGGGTGTTAGAGGCAGGTGTGGAGGGCCTGGCCTCCCAGCGCCGCCGTCCATGACTGGGTCTCCTGGGCTCTCTCCACCTTGCAGGAAGCGGGAGAACAGCCTCCAGGAAGACAGAGGCAGCTTCGTTACCACCCCCACTGCGGAGCTGTCCAGCCAGGAGGAGACGCTGCTGGGCAGCTTCCTCGACTGGAGCCTGGACTGCTGCTCTGGCTATGAAGGCGACCAGGAGAGTGAGGGCGAGAAGGAGGGCGACGGTGAGTGTGGGGCCAGGGTGCACCAGAAGGGACATCACACAGAGGGTGGCTCTCACCGAGGGCCTCTGGGCACCCGGCCCTGTGCGAGCGCTGTGGGAGGAAGATGTGCACAGAGTGCGGGGTGGGGCCAGCTCCTGCCCCGCCGGGGAGTGTGTCCAGACATGGGGAGAGAGGAGGGGAGAGCCCCCAAAAGACCACAGCTGCTCCCACCACACAGGGATGAGAGGACTTAGGCCACACCTATCCGGCTCCTGCTCATTCCGTGTTGGGAGGACCTCACTAGGATGAGGGAGGCAGAGACCCTGTCTGGAGTTCATGGAGATCCTTCTAGGCCTGTAGTCTCATGCCTGTAATCCCAGCAATTTGAGAGGCTGAGGCAGGAGGATCACTTCAGGCTAGAAGTTCAAGACCAGCCTGGGTGACACAGCAAGACAAAAAATTTAAAAATTAGCTGGGCATCGTGGCGTGCGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCACAGGAGGTGGGAGCTGCAGTGAGCCGTGATCATGCCACTGCACTGTAGCCTGGGCGTTCTTTCTAGAATGTTGTTTGAGGTGTGCCCACGTGGTATACGTGACACTCCTCACTGCCCTGCTGGGATCACTGCCCTGTGCAAACCCCAGGCAGACTGCGGGGTCCTTGCCAGAAGCCCAGTTAGTGTGAGTCCTGTCAGTTTCCCGGTTGCTTGCTTCTGCGTCCACTTGGCTTGAGCTAGATGGCCAACTTGTCATCTCCACATTTGTTGGAGTCATGGCGGGCAGCTGTCCAACTTGGAAGAGGCATGTCACCCACGCTTCTCACCACAGGAGGGTAACACAGGGGACCGTAGCAAGGTAGAAGATTCTTGACCTGGACTTCAGGGTCCTGACCTGGCAGGGGGTCTCCCCTGATGCTTGGGTGTGACATGACTTCCCTCCCCACCAACCTTCCTGCAGTGACAGCTCCCAGCGGCATCCTCGATGTCACCGTGGTCTACCTGAACCCAGAACAGCATTGCTGCCAGGAATCCAGTGATGAGGAGGCTTGTCCAGAGGACAAGGGACCCCAGGACCCACAGGCACTGGCGCTGGACACCCAGATCCCTGCAACCCCTGGACCCAAACCCCTGGTCCGCACCAGCCGGGAGCCAGGGAAGGACGTCACGACCTCAGGGTACTCCTCCGTCAGCACCGCAAGTCCCACAAGCTCCGTGGACGGTGGCTTGGGGGCCCTGCCCCAACCTACCTCAGTGCTGTCCCTGGACAGTGACTCGCACACACAGCCCTGCCACCATCAGGCCAGGAAGTCATGTTTACAGTGTCGTCCCCCAAGTCCCCCGGAGAGCAGTGTTCCCCAGCAACAGGTGAAGCGGATAAACCTATGCATACACAGTGAGGAGGAGGACATGAACCTGGGCCTTGTGAGGCTGTAAGTGTGTCAGCACATTTGCCGCAGTGGATGTGTACTGAGGGGGCTGGAGGCGAAGGGTGGGAGCATAGCATAGGAACGCTGCATAGACCATGGAGGCCTTTGCGCAGAGAGCAGAGAGGATGACTTGCGGCCACCAAGTTTCTGTCTCCGCGGGAGTCCCGTGCAAGCCATCAGAATGTTGAAATGAGGGTGAAGAGCTCAGATCCCTCTCTTTGGAAAGTTTAGCCTGGAAGCAGTTGGCCACACTGTGTGGAGGGCACCTCTCTGTCCCTTCCGTGTCTCACTGTCTCTGGAAGCTTCAGCCCATGTGTGTCCTGGTGTTCCCAGCCCCACCAGAGCCCCGTGCCGGGAGCTGACAGCTTTCACGCTTAAGGCACGTGTGACCTGGGTAGTCAGACACCACTTGAGCCCCTGCCCACATCTGCTGGTTTGGGGCTTCAGTGGGGAGCTGACAGCTGTGAGCACACCACTGTCCCCTCATCCACCTCGGCCTGCATGGGGCACCCACTTCCTTCTGGGTGGGGCTTCCATGGTAAGGGGGCCTGCGTCCCTGCACACTGCGAGGACTGCCTTGGCC
CCTTCCTCAGCTCTCCCTCGGGGCGGAGAACCAAACGGTTAGTTACCCTGCGTTCTGGCTGCGCCATACAATGCTGGCATCCTCGTGCCGGCCCAGTTCCCTCAGCGCTTCCTCACACAGAGAGGCCCCCAAGGCTTGTCAGGGGAGCAGCAGATCCCAGGACAGTGACCCTGGGACGGAGCCCTGCAGTCATGCCTCGGGCCCCTGCGTAACCTCCACTGTCTCCAGCCCAGGTCTCCTTCCTCAGAGGCTATTGCCTCTCGCTCTGACTGGGCTCCCTGTGGAGGAAGATGGTTTCGAGCACGCGGGAGCCTAGCCTGGCTCTAGCCCTGCCCGTGCCTGTCATGCGCGTCCTGGACTTCTCTGCTCCATGATGCTGCTGTCACTCCCGGCACTCGAGCTGTGACCTGAGTCACATCCCCAGCACTTCCCTCGCCACCCGTGTGGACCTGTTTACCCGCCTCTCCTATCTCAGCACCTTGGCTGTTCCTCCTGGAGTTAACTTCCTCTTTCTACCTCACCCGCCTGGAGAACTCCTACTGATTCCACAAGGCCCCGATGAACAGGGCCCTCCCTGTGCTGCTGGCCCTGCGCCGTGACCCCTCAGCACCATGTGCACCAGTAACCTTCCCAAGGGCAGGCACTGGGTGGCTGGGTCTTTCCTGTCAATATAGGACCAGGCAGGGCTGCCTCCAGAAGCGTTGTGTCGGGAGTGGGCTCCTGGCAGGAGACCTCAACTCCTGGGGAGCCCTGGGGAAGCAGCCAAAGCCCCTGCTGCTGCTTCCTCCCCAAGAAGCGTGACAGCACTTTCCATTGTGTGGAAGGCAGGAGACCTGACCCTCCTGTGTCACTCCACACACGCACCGACTCCCTGGGGCCAGGGTCATCACGAGGAAAGTCCATGCAGATACGCACGGCTACTCCAGGAGGGGGCCTGGCCCTGGCCCTGTGCTCAGCCTCGCTGTGTTAAACCCGCTTCTCAGAGGCCCCCCACAGCCCCATCAGTCTTCTGAGACAGACCCCCACGGGTGACACTGGGATAGCTCTCTCCACCCCCCGCCCTCCACCAGGCCCTGGGGTCAGGAAGTGGAAAGGCTCAGCTGGTGTGGCGGCTTTTCCCAGGCTCACGCCCACACACTGGCCTCTAGCCCCATCCTGAGCAAGACTTGACCCCAGTTGGGTGTGGGTGTCAGCACCGCCCAAGGCCAGGCCATTCCATGCAATCTGCCTGGCGCCGGGCTAAGCACTGCCTGCACCTTATTAATCAACACCAGAGGGGCCGGGTGCGGTTGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAAGTTAGGAGTTCGAGACCAACCTGCCCATCATGGTGAAACCCCGTTTCTACTAAAAATATAAAAATTAGCTGGGTGTGATGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGACTCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGGGCGACAGAGCAAGAACACCTCAAAAAAAAAAAAAAAAAAAAAAAAACACTGGAAGGTGGCATCATCCTAGAGGTTTCCAGGGGACCAGATGGTTGGCCCACGCCCCACAGCTGAGCCGGGTGGGCTGGGCTTCACACCCAGACCTGGGGCCTGAGTTTGCCTGAGCTGTCCTCCAGGTTGGCCCTGCCTGAAGGGCTTATACCTGTTCTAGCTTCACCGGCATCTTCTTCGTAGCAGAACCTTTGGGAGCACGTGGTGACAGGCTGGGGCACGCGGGTGTTAGAGGCAGGTGTGGAGGGCCTGGCCTCCCAGCGCCGCCGTCCATGACTGGGTCTCCTGGGCTCTCTCCACCTTGCAGGAAGCGGGAGAACAGCCTCCAGGAAGACAGAGGCAGCTTCGTTACCACCCCCACTGCGGAGCTGTCCAGCCAGGAGGAGACGCTGCTGGGCAGCTTCCTCGACTGGAGCCTGGACTGCTGCTCTGGCTATGAAGGCGACCAGGAGAGTGAGGGCAAGAAGGAGGGCGACGGTGAGTGTGGGGCCAGGGTGCACCAGAAGGGACATCACACAGAGGGTGGCTCTCACCGAGGGCCTCTGGGCACCCGGCCCTGTGCGAGCGCTGTGGGAGGAAGATGTGCACAGAGTGCGGGGTGGGGCCAGCTCCTGCCCCGCCGGGGAGTGTGTCCAGACATGGGGAGAGAGGAGGGGAGAGCCCCCAAAAGACCACAGCTGCTCCCACCACACAGGGATGAGAGGACTTAGGCCACACCTATCCGGCTCCTGCTCATTCCGTGTTGGGAGGACCTCACTAGGATGAGGGAGGCAGAGACCCTGTCTGGAGTTCATGGAGATCCTTCTAGGCCTGTAGTCTCATGCCTGTAATCCCAGCAATTTGAGAGGCTGAGGCAGGAGGATCACTTCAGGCTAGAAGTTCAAGACCAGCCTGGGTGACACAGCAAGACAAAAAATTTAAAAATTAGCTGGGCATCGTGGCGTGCGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCTCTTGAGCACAGGAGGTGGGAGCTGCAGTGAGCCGTGATCATGCCACTGCACTGTAGCCTGGGCGTTCTTTCTAGAATGTTGTTTGAGGTGTGCCCACGTGGTATACGTGACACTCCTCACTGCCCTGCTGGGATCACTGCCCTGTGCAAACCCCAGGCAGACTGCGGGGTCCTTGCCAGAAGCCCAGTTAGTGTGAGTCCTGTCAGTTTCCCGGTTGCTTGCTTCTGCGTCCACTTGGCTTGAGCTAGATGGCCAACTTGTCATCTCCACATTTGTTGGAGTCATGGCGGGCAGCTGTCCAACTTGGAAGAGGCATGTCACCCACGCTTCTCACCACAGGAGGGTAACACAGGGGACCGTAGCAAGGTAGAAGATTCTTGACCTGGACTTCAGGGTCCTGACCTGGCAGGGGGTCTCCCCTGATGCTTGGGTGTGACATGACTTCCCTCCCCACCAACCTTCCTGCAGTGACAGCTCCCAGCGGCATCCTCGATGTCACCGTGGTCTACCTGAACCCAGAACAGCATTGCTGCCAGGAATCCAGTGATGAGGAGGCTTGTCCAGAGGACAAGGGACCCCAGGACCCACAGGCACTGGCGCTGGACACCCAGATCCCTGCAACCCCTGGACCCAAACCCCTGGTCCGCACCAGCCGGGAGCCAGGGAAGGACGTCACGACCTCAGGGTACTCCTCCGTCAGCACCGCAAGTCCCACAAGCTCCGTGGACGGTGGCTTGGGGGCCCTGCCCCAACCTACCTCAGTGCTGTCCCTGGACAGTGACTCGCACACACAGCCCTGCCACCATCAGGCCAGGAAGTCATGTTTACAGTGTCGTCCCCCAAGTCCCCCGGAGAGCAGTGTTCCCCAGCAACAGGTGAAGCGGATAAACCTATGCATACACAGTGAGGAGGAGGACATGAACCTGGGCCTTGTGAGGCTGTAAGTGTGTCAGCACATTTGCCGCAGTGGATGTGTACTGAGGGGGCTGGAGGCGAAGGGTGGGAGCATAGCATAGGAACGCTGCATAGACCATGGAGGCCTTTGCGCAGAGAGCAGAGAGGATGACTTGCGGCCACCAAGTTTCTGTCTCCGCGGGAGTCCCGTGCAAGCCATCAGAATGTTGAAATGAGGGTGAAGAGCTCAGATCCCTCTCTTTGGAAAGTTTAGCCTGGAAGCAGTTGGCCACACTGTGTGGAGGGCACCTCTCTGTCCCTTCCGTGTCTCACTGTCTCTGGAAGCTTCAGCCCATGTGTGTCCTGGTGTTCCCAGCCCCACCAGAGCCCCGTGCCGGGAGCTGACAGCTTTCACGCTTAAGGCACGTGTGACCTGGGTAGTCAGACACCACTTGAGCCCCTGCCCACATCTGCTGGTTTGGGGCTTCAGTGGGGAGCTGACAGCTGTGAGCACACCACTGTCCCCTCATCCACCTCGGCCTGCATGGGGCACCCACTTCCTTCTGGGTGGGGCTTCCATGGTAAGGGGGCCTGCGTCCCTGCACACTGCGAGGACTGCCTTGGCC
Task1_train_22202
The gene TBC1D24 (TBC1 domain family member 24) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; DOORS syndrome
AATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTG
AATCCCAACACTTTGGGAGGCCGAGGTGGGTGGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCGAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTG
Task1_train_22203
Here’s a variant in TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Developmental and epileptic encephalopathy, 1
CAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGAC
CAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGCCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGAC
Task1_train_22204
A mutation on Chromosome 16 affecting TBC1D24 (TBC1 domain family member 24) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Caused by mutation in the TBC1 domain family, member 24
CAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGAC
CAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGCCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGAC
Task1_train_22205
Consider this mutation in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is this a benign change or a disease-causing variant?
Pathogenic; Autosomal dominant nonsyndromic hearing loss 65
CAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGAC
CAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGCCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGAC
Task1_train_22206
With a mutation on Chromosome 16 in gene TBC1D24 (TBC1 domain family member 24), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Developmental and epileptic encephalopathy, 1
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
Task1_train_22207
Given this context: Chromosome 16, gene TBC1D24 (TBC1 domain family member 24) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Autosomal dominant nonsyndromic hearing loss 65
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
Task1_train_22208
With a mutation on Chromosome 16 in gene TBC1D24 (TBC1 domain family member 24), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Caused by mutation in the TBC1 domain family, member 24
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
Task1_train_22209
This variant affects the gene TBC1D24 (TBC1 domain family member 24) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Autosomal recessive nonsyndromic hearing loss 86
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
Task1_train_22210
The gene TBC1D24 (TBC1 domain family member 24) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
Task1_train_22211
This is a variant in TBC1D24 (TBC1 domain family member 24), located on Chromosome 16. Is this mutation a likely cause of disease or not?
Pathogenic; Developmental and epileptic encephalopathy, 16
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
Task1_train_22212
Chromosome 16 houses a mutation in gene TBC1D24 (TBC1 domain family member 24). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Autosomal dominant nonsyndromic hearing loss 65
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
Task1_train_22213
The following genetic variant occurs in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; DOORS syndrome
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
Task1_train_22214
Here is a mutation in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Familial infantile myoclonic epilepsy
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
Task1_train_22215
A genetic alteration is present in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Autosomal recessive nonsyndromic hearing loss 86
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGTGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACA
Task1_train_22216
Assess the clinical impact of this variant on gene TBC1D24 (TBC1 domain family member 24), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; DOORS syndrome
CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATC
CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGTGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATC
Task1_train_22217
A variant has been detected on Chromosome 16 in TBC1D24 (TBC1 domain family member 24). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Developmental and epileptic encephalopathy, 1
CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATC
CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGTGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATC
Task1_train_22218
Gene TBC1D24 (TBC1 domain family member 24), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Autosomal dominant nonsyndromic hearing loss 65
CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATC
CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGTGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATC
Task1_train_22219
Here’s a variant in TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Caused by mutation in the TBC1 domain family, member 24
CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATC
CCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAACTGGCTGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGTGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATC
Task1_train_22220
Assess the clinical impact of this variant on gene TBC1D24 (TBC1 domain family member 24), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Autosomal recessive nonsyndromic hearing loss 86
CCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCC
CCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCTCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCC
Task1_train_22221
A sequence alteration has been identified in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is it disease-inducing or harmless?
Pathogenic; Autosomal recessive nonsyndromic hearing loss 86
AGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACAC
AGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCGGAAGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCCGTGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTTACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACAC
Task1_train_22222
A variant has been detected on Chromosome 16 in TBC1D24 (TBC1 domain family member 24). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; DOORS syndrome
AAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTC
AAAAAAAAAAAAAAGGGAGAACTAGAACGAAGCATCTCTTTGCTCAAAGTGATCTTCTCAACTGGGGGTTCCTTTTCAGAAGGCCCCCAGGGTGCAGGGTGGTGTTTAGGAGCCTGGAGTGGACCATGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACCGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTC
Task1_train_22223
A change on Chromosome 16 affects gene TBC1D24 (TBC1 domain family member 24). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Autosomal dominant nonsyndromic hearing loss 65
TGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGG
TGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCCACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGG
Task1_train_22224
A mutation found in TBC1D24 (TBC1 domain family member 24) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Developmental and epileptic encephalopathy, 1
TGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGG
TGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCCACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGG
Task1_train_22225
Here’s a variant in TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Caused by mutation in the TBC1 domain family, member 24
TGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGG
TGCTCGAGTGGAAAGGTGTTTTCAGCAGGGTCAGCCTCTTTTTTTGGTAGAGATGGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCCACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGG
Task1_train_22226
Here is a genetic alteration in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Caused by mutation in the TBC1 domain family, member 24
GCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCC
GCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTTGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCC
Task1_train_22227
Mutation context: Chromosome 16, Gene TBC1D24 (TBC1 domain family member 24). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Developmental and epileptic encephalopathy, 1
GCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCC
GCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTTGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCC
Task1_train_22228
This variant impacts the gene TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
Pathogenic; Autosomal dominant nonsyndromic hearing loss 65
GCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCC
GCCTCAACTAGTCCTCCCACCTTGGCCTCCTGAGTAGCTGAGATTATAGATATGAGCCACTGTGCCCAGCCAAGGGCCAAGCTCTTGAAGCCCTTCTGGGAACTCTATCTCTAGCCTCTCATTACTCAGAATCTGTGTGATGTATTCCAGTAACTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTTGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCC
Task1_train_22229
Here is a genetic alteration in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Developmental and epileptic encephalopathy, 16
CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCT
CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTCTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCT
Task1_train_22230
Here is a variant affecting TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Developmental and epileptic encephalopathy, 1
CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCT
CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTCTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCT
Task1_train_22231
This mutation is located in gene TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Autosomal dominant nonsyndromic hearing loss 65
CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCT
CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTCTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCT
Task1_train_22232
The gene TBC1D24 (TBC1 domain family member 24) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Caused by mutation in the TBC1 domain family, member 24
CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCT
CTTCATAAGTTCTGTGAAAAGAAGGTATACTCCAAAGTTTGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTCTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCT
Task1_train_22233
This gene mutation involves TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; Caused by mutation in the TBC1 domain family, member 24
TGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAAC
TGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCACGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAAC
Task1_train_22234
This variant impacts the gene TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
Pathogenic; Autosomal dominant nonsyndromic hearing loss 65
TGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAAC
TGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCACGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAAC
Task1_train_22235
Here’s a variant in TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Developmental and epileptic encephalopathy, 1
TGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAAC
TGTAACGGCTTCTCAAAAGTCACTTATCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCACGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAAC
Task1_train_22236
Here’s a variant in TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Familial infantile myoclonic epilepsy
TCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGA
TCTTAAGTGGAAGCCCTTCTAATACTTACACAAAGATTAAGGCAAATAATGTGGCTGCGCAACGTGACTCTCACTCGTAATTCCAGCATGGTGGGAAGATCACTTGAGGCCTGCGGTTCAAGGCCAACCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCCTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGA
Task1_train_22237
Consider this mutation in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is this a benign change or a disease-causing variant?
Pathogenic; Autosomal recessive nonsyndromic hearing loss 86
CCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACC
CCTGGGTGACAGAACAAGACCCCATCACACACACACACACACACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCCCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACC
Task1_train_22238
This sequence variant lies in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Developmental and epileptic encephalopathy, 1
CACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGC
CACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCCATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGC
Task1_train_22239
This alteration occurs within gene TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
Pathogenic; Caused by mutation in the TBC1 domain family, member 24
CACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGC
CACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCCATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGC
Task1_train_22240
Here’s a variant in TBC1D24 (TBC1 domain family member 24) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Autosomal dominant nonsyndromic hearing loss 65
CACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGC
CACACACACACACACAAAATAAATAATAATAATAATAATAAACAAAAAAACAGGCCAGGAGCACTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCTGTGGTGGGTGGATTGCTTGAGATCAGGAGTTTAAGACCAGTCTGGGTAACATGGCAAAATCTCGTCTCTACTAAAAAGAGAAAAAATTAGCTGGGCGTGGTGGCGCCTAACTGTAGTCTCAGCTATAGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGCAGAAGTTGCAGTGTGCCGAGATGGTGCCATTGCACTCTAGCCTGGATGTCAGCACAAGACCTTGTCTCAAACAAAACAAAACAAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGACAGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGAGAGCATAGCGAGACCCTGTCTCTACAAAAAAATAAAAAATTAGGCCAGGGCGGTGGCTCTCGTCTGTAATCCCACACTTTGGGAGGCCAAGGCAGGCACATCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTAGTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTTTAGTCCCAGCTACTCAGAAGGCTGAGTCTGGAGAATCGCTTGAACCAGGGGCGAGGAGGTTGCCGTGAGTGGAGATCGTGACACTGTACTCCAGCCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAATTAACTGGGCATGGTGGTGGACACCTGTCGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATGGTTCAAGCCATTCAAGGCTGCAGAGAGCAGGGTCACGCCACTGCACCGCACTCCAACCTGGGCAACAGAGCGAGACCCTGTCTCAAAAGAAAAGAAAACTACACCACATTTGAAAAAATACGTTCTTTAAAATGTGAACCTTGAAACACAGATGCTAAAAGTGTTTTTTTAATCCTGCAGGGTGTGAGATGGCAGACAGGTTTGCAGGAAACCCTCAGAAAGGGGGCTGGAGGATTTAGCCACTCTGTCCTCCCCTTCCGGCAGTCCAGGGCCTCCTCCCGAGCACAGCGGCGCTATGGACTCTCCAGGATACAACTGCTTCGTGGACAAAGACAAGATGGACGCTGCCATCCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCCATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGC
Task1_train_22241
The variant affects gene TBC1D24 (TBC1 domain family member 24), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; DOORS syndrome
CCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTGGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGCTCTGCACTGGGGCCTTCCACTGCAAGGCCTCTCCCCTGAGTCACACCAGGGCAGGCTGTCCTGGGGATGGCAGAGAAGGGCCAGGTGAGAAGAACACCTGGGTGAGGGTGTTGTCGGGACCCAGAGAGAAGGAAGCACAGTTCCCAGGTCTTCGCCCCAAGACAGCTGGGGCCAGCGGAGGCTGCAGGAGGCGGCTGGGAGGGTGTGCAGGGTGACAGCTGGCATGCGTGTCTCTACGCCAGGTTCTACTTCCAGTGTGAAGGACATGAGCCTACCCTCTTGCTCATCAAGACCACGCAGAAGGAGGTGAGCAGGGGCCCTGGAGCCAGGGCTGGCTCTGATGGGCTCCAGGGCTGGCTCTGATGGGCTCCAGGGCTGGCTCTGATGGGCTTCAGGGCCTAGGCCTCCTGGGCCAGATCCAGAGTCAGAGCGTGGGTATGGCCAGCACATGGGGCTCATCCCACACTCAGGGCCACAAGGGGAAATGAGACTATCCCCAACACAGCCCCCGCCCACCCTCATTGCCAGCCCCAAGCCAGGGGCAGGGTGCACACACCTGCAACACTGCCTTTCCCACACCACTCCTGCCCTGGGGTGGGGGTGGGAGACGGCAATGCCTGCACCCCCACCTGTGACCTGGGACAGGCCCGTCAGTAGTCTGGAGCACAGGGACGCTCCTGGGGGCCTGCGGGCACAGCCTCACCCAGACCTTTCCCCCAGGTGTGTGGTGCTTACCTGTCCACAGACTGGAGTGAGAGAAATAAGTTTGGAGGCAAACTGGGCTTCTTTGGGACCGGAGAATGCTTTGTGTTTAGGGTGAGTGGGGCCAAGTGTCCCCAAACCCCCACGCAGACCCTGTAGCTGCATCCCTCCAGGAGCACCCGCCTGCCCTGGGGACACTGTTGGGTGTCGCCATGGCAGTCACCCAGCAGCGTCATCGCCCTGTGTGCTTCCGGGTTTGATCATTCAGCCGTGCGCTGCTCCGGGGCAGGGGGCTTCATCTGCTCGAGCCACCAGCTCCCCAGCCCCTGGCTCGGGCTGCACCCACCTTGGGCTCTGGGTGCAGATTCACGGGATGAAACGGGTTGTGGCTCTGGGGCAGAGGGGCCTGCGAACGCCCGCGCCAGCTCCTCACACTCCCCTTCCACCCCAGCTGCAGCCTGAGGTGCAGCGCTACGAGTGGGTG
CCAGGACCTGGGGCCCAAGGAGCTGAGCTGCACTGAACTGCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAGCGCCTGATCCGGGACATTCCCTGCCGCACGGTCACGCCTGACGCCAGCGTGTACAGCGACATCGTGGGCAAGATCGTGGGCAAGCACAGCAGCAGCTGCCTGCCGCTGCCCGAGTTCGTGGACAACACGCAGGTGCCCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGCAAGATCCTCCTGTGCCTGGCCAACCAGTTCCCCGACATCTCCTTCTGCCCCGCCCTGCCGGCCGTGGTGGCCCTGCTGCTGCACTACAGCATCGACGAGGCCGAGTGCTTCGAGAAGGCCTGCCGCATCCTGGCCTGCAATGACCCCGGCAGGAGGCTGATCGACCAGAGCTTCCTGGCCTTTGAGTCGTCCTGCATGACGTTTGGGGACCTGGTGAACAAGTACTGCCAGGCGGCCCACAAGCTGATGGTGGCCGTGTCGGAGGATGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTGGGGAGCTGCCCCTCTGCTACTTCGCCCGGGTCTTTGACGTCTTCCTGGTGGAGGGCTACAAGGTGCTGTACCGCGTGGCGCTGGCCATCCTCAAGTTCTTCCACAAGGTGAGGGCCGGGCAGCCGCTGGAGTCGGACAGCGTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACGGTGTCCCCTGAGAAGCTGCTGGAGAAAGCGTTCGCCATCCGCCTCTTCTCCCGCAAGGAGATCCAGCTCCTGCAGATGGCCAATGAGAAAGCCCTGAAGCAGAAGGGCATCACCGTGAAGCAGAAGAGGTAGGTCGCCGGCAGCCTGTGAGGGGTACACCCAGGGTCGGGGGCTGGGGCAGGACGTGTCTGGCGTGAGCTCATCCTGCCGGCCTCCAGGCGGCCTCTGCCCATGGTCCACCCAGCCATCTGTGCATGGCTGAAAAGACACTGAAACAGGAAGGGCCTTCCCAGTTACAGCCACAGACGAGGGACATCGGGTCCTATCCTCTGGGGCCAGGCCCACGGCTGAGATGAAAGCTGATGCTGGCCATGGGGTCGCAAGGCATCGTGGGAGGCCAGGCCCACTCCCAGGGTCATTTCAGGGCAGCCTCTGCTCCACCCCTCCGGCTCTGGGCTCCGTGGCTGGTCTCTGCTGTGGCTGCTGGGCGTGGCCTCCCCGCCTGGAGCACAGCCCCAGGGGAGCAGGGTCAGGAGTTCATGGTGTCTGTCCTATGTGGATTTGGCAGCCAGCGCTGTGATGGTGCCACGCTGCGGCCTGTTGGCGTGCAGCCCTCTTTCTTCTGGGCCAGCAAAGGCCTGTCGGGGGATCGGTACTCACACTAACCTCTCTTTGTCTGTTTTATTTTTCTTCTCCATGTCCGTTGCTTTCTCCTGTTTTTCAGTGTGTCACTTTCTAAAAGGTAGGTCTGAAACTGTATCTGCACACCTGGCCTCTGTCTTTCCACCAGGCTGACTCTAGGCCAGCTGCTTGCTCTGGGTCTCAGGGCTGCTCTCGTGGGCCAGCTTCAGCAGCGCTGCCTCTGAGCCGGACTGATGCTCAGGCGCCTTCTGTCTGTCTGTCTGCCTGCCTCCCTGCCTGTCTGCCTCTGTCATGCTATCTGCTGGTGTTTGGCTCACCCTGAAGCCTTGTCTTGCCAGAGCAGTTGCTCTCTGTCCTGATTTCTTAGAGAAAAGTTGCATTGTCCCCATCCAAGCTGGGCACTTTCCCTTCTGTAATGGGTGGGAGGTGGGGCTCCTGGGAACTTTCTCCCCGTTGGGCACCTAGAACCCGGCCCTAAACCGGGGCCGGGGCAAGCAGGCGAGAAGTTCCCTCTGGGTTTACTTCCAAAGAGGCTCTGGGGCATACCTCGGGGGGCATGGCCTGGCCCCAGACGTGCCTTCGGGCTCTGACCCCTGCTCGCTCCCCTCAGGCAGTTTGTACACTTTGCCGTCCATGCAGAGAACTTCCGCTCGGAGATCGTCAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCGAGCGCTTTGCCCTGTGCCAGCCCCTTCTGCTGTTCTCCTCCCTGCAGCACGGGTACAGCCTGGCCAGGTAACACCCCAAGGGGCCAGAGCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGCTCTGCACTGGGGCCTTCCACTGCAAGGCCTCTCCCCTGAGTCACACCAGGGCAGGCTGTCCTGGGGATGGCAGAGAAGGGCCAGGTGAGAAGAACACCTGGGTGAGGGTGTTGTCGGGACCCAGAGAGAAGGAAGCACAGTTCCCAGGTCTTCGCCCCAAGACAGCTGGGGCCAGCGGAGGCTGCAGGAGGCGGCTGGGAGGGTGTGCAGGGTGACAGCTGGCATGCGTGTCTCTACGCCAGGTTCTACTTCCAGTGTGAAGGACATGAGCCTACCCTCTTGCTCATCAAGACCACGCAGAAGGAGGTGAGCAGGGGCCCTGGAGCCAGGGCTGGCTCTGATGGGCTCCAGGGCTGGCTCTGATGGGCTCCAGGGCTGGCTCTGATGGGCTTCAGGGCCTAGGCCTCCTGGGCCAGATCCAGAGTCAGAGCGTGGGTATGGCCAGCACATGGGGCTCATCCCACACTCAGGGCCACAAGGGGAAATGAGACTATCCCCAACACAGCCCCCGCCCACCCTCATTGCCAGCCCCAAGCCAGGGGCAGGGTGCACACACCTGCAACACTGCCTTTCCCACACCACTCCTGCCCTGGGGTGGGGGTGGGAGACGGCAATGCCTGCACCCCCACCTGTGACCTGGGACAGGCCCGTCAGTAGTCTGGAGCACAGGGACGCTCCTGGGGGCCTGCGGGCACAGCCTCACCCAGACCTTTCCCCCAGGTGTGTGGTGCTTACCTGTCCACAGACTGGAGTGAGAGAAATAAGTTTGGAGGCAAACTGGGCTTCTTTGGGACCGGAGAATGCTTTGTGTTTAGGGTGAGTGGGGCCAAGTGTCCCCAAACCCCCACGCAGACCCTGTAGCTGCATCCCTCCAGGAGCACCCGCCTGCCCTGGGGACACTGTTGGGTGTCGCCATGGCAGTCACCCAGCAGCGTCATCGCCCTGTGTGCTTCCGGGTTTGATCATTCAGCCGTGCGCTGCTCCGGGGCAGGGGGCTTCATCTGCTCGAGCCACCAGCTCCCCAGCCCCTGGCTCGGGCTGCACCCACCTTGGGCTCTGGGTGCAGATTCACGGGATGAAACGGGTTGTGGCTCTGGGGCAGAGGGGCCTGCGAACGCCCGCGCCAGCTCCTCACACTCCCCTTCCACCCCAGCTGCAGCCTGAGGTGCAGCGCTACGAGTGGGTG
Task1_train_22242
A sequence alteration has been identified in TBC1D24 (TBC1 domain family member 24) on Chromosome 16. Is it disease-inducing or harmless?
Pathogenic; Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
GCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGCTCTGCACTGGGGCCTTCCACTGCAAGGCCTCTCCCCTGAGTCACACCAGGGCAGGCTGTCCTGGGGATGGCAGAGAAGGGCCAGGTGAGAAGAACACCTGGGTGAGGGTGTTGTCGGGACCCAGAGAGAAGGAAGCACAGTTCCCAGGTCTTCGCCCCAAGACAGCTGGGGCCAGCGGAGGCTGCAGGAGGCGGCTGGGAGGGTGTGCAGGGTGACAGCTGGCATGCGTGTCTCTACGCCAGGTTCTACTTCCAGTGTGAAGGACATGAGCCTACCCTCTTGCTCATCAAGACCACGCAGAAGGAGGTGAGCAGGGGCCCTGGAGCCAGGGCTGGCTCTGATGGGCTCCAGGGCTGGCTCTGATGGGCTCCAGGGCTGGCTCTGATGGGCTTCAGGGCCTAGGCCTCCTGGGCCAGATCCAGAGTCAGAGCGTGGGTATGGCCAGCACATGGGGCTCATCCCACACTCAGGGCCACAAGGGGAAATGAGACTATCCCCAACACAGCCCCCGCCCACCCTCATTGCCAGCCCCAAGCCAGGGGCAGGGTGCACACACCTGCAACACTGCCTTTCCCACACCACTCCTGCCCTGGGGTGGGGGTGGGAGACGGCAATGCCTGCACCCCCACCTGTGACCTGGGACAGGCCCGTCAGTAGTCTGGAGCACAGGGACGCTCCTGGGGGCCTGCGGGCACAGCCTCACCCAGACCTTTCCCCCAGGTGTGTGGTGCTTACCTGTCCACAGACTGGAGTGAGAGAAATAAGTTTGGAGGCAAACTGGGCTTCTTTGGGACCGGAGAATGCTTTGTGTTTAGGGTGAGTGGGGCCAAGTGTCCCCAAACCCCCACGCAGACCCTGTAGCTGCATCCCTCCAGGAGCACCCGCCTGCCCTGGGGACACTGTTGGGTGTCGCCATGGCAGTCACCCAGCAGCGTCATCGCCCTGTGTGCTTCCGGGTTTGATCATTCAGCCGTGCGCTGCTCCGGGGCAGGGGGCTTCATCTGCTCGAGCCACCAGCTCCCCAGCCCCTGGCTCGGGCTGCACCCACCTTGGGCTCTGGGTGCAGATTCACGGGATGAAACGGGTTGTGGCTCTGGGGCAGAGGGGCCTGCGAACGCCCGCGCCAGCTCCTCACACTCCCCTTCCACCCCAGCTGCAGCCTGAGGTGCAGCGCTACGAGTGGGTGGTGATCAAGCACCCCGAGCTGACCAAGCCCCCACCCTTGATGGCTGCCGAGCCCACCGCCCCACTCAGCCACTCCGCCTCCTCAGACCCCGCTGACCGCCTCTCGCCCTTCCTGGCCGCTCGCCACTTCAACCTGCCCTCCAAGACCGAGTCCATGTTCATGGCGGGGGGCAGCGACTGCCTCATCGTCGGTGAGCGCCAGCAGACGGGGCTCTGGGATGAGGGTGTGGGGTCCGGGCAGCTGAAGCTGCTGCACCCAGCCCTCCCTGACCGGGGTGGCAGAGAAGAGGCCCTGGGTGTCAGGGTGGACCAGGCATGATGGGTGGGAGGGGGCTGGAAGGGAGAGACCAGCCTGGACAGCTGGTCCTGGGGGCTATGGAGGGTCAACGGTCTGTGCGGTTTCAGAGAGGCCCGTGCAGGGCAGGACAGCTGGGACAGCAGGTGAGGTGCCTGGGTCAGTGCTGATAGGGCAGTCAGGCCGCCACTGACCTGAGCATCCTGCAGGGGGAGGAGGCGGCCAGGCGCTCTACATCGATGGGGACCTGAACCGGGGCCGCACAAGCCACTGCGACACCTTCAACAACCAGCCCCTCTGCTCCGAGAACTTCCTCATTGCTGCCGTGGAGGCCTGGGGCTTCCAGGACCCTGACACCCAGTGACGGCCTGTGCCACGGTGACTGAGCCGTGGTGGGGCGGTGGGCCGAGGCTGGGCTGCCGCCTCGGGCAGCAGAGAGCAGATGAAACCCCCATGTGGTAGGCAGGGTTGGGGGACGGCAGGACCCCATGGCCAAGCCTGGCGTTGCCTGGACCTGCTGCTGCCTCTACCTGGGGTTTGGGCTGGGCTTCCCCAGTCCACCTGCATCTGGGTCAGAGCTGGAGGGCCTGCTGTGCCCCCAGCCCCACCCAGAGCTGGCATAGGAAGTACCTTCCTCCTCCGTGGAGGCTTCCATAGCCCAAGGCCTTGGGAGTGTCTGGGTCTTGCTGCCCCTGAGCCTCTCTAGGCAGCCTGAGCCCCTGGGGTGGGAGTACAACGGCAGTGGGAACGTGCAGCTAAGGGTGGGCCTGTGGTGCCCCCTGCTGGTGCCGCATAGCATCGCGCCCTCCTGAGCAGGGCCCTGCAGCCTGGCTGGCTGGCGACTGAATCCCAGCGTAGATCCCGAGAACAGACTGGCACCCTTGGGCCTGCCCCCTGGCGGACCCCACCCCCTGTCCTGGGCGTTTGCCCCAGTTCCCTCCCCAGGCCTCCTGGGCCACCTCTCACATTAACCCTTCTTGGCTGCCTCTGAGGCTCCCCTGGGCTGCGTTTGGGAGCTGCTGGGTGGGAGGAGGAGGGTGGGATTTGTGCTGGGCTCCACCCCCAGGGAGGGTGGGAGCTGGAGGGGGATGTCACATGTCCTTGTGTTTCTGCAGAGCCTGAAGCTTTTGCTGGGCCTCCCTGCGTGTTCCCATCTGAAGAGGTAGCCCCGGGAGAGGCCCTCAGGGACCGACCCAGACCAGCAAGCTCCATTTCCAGGGGTCTGCCCAGAGAAGCCTGGACCCAGGGGGCTTCTCAGCTCCCCTCCCTTCCAGCCCAGGCCTCCTTGAGCTCCTGTAGCCTCTGCAGCTGCCCATTTCACCTCTTTGTCATTGCAATGACCTGGGGCCCAGGGTCACGCCCAAGCCCCTCTTTGTGGCATGCTCATCTCAGTGCAGCCCCAACTGCTTCTCTGCACCAGGCCCCGTGCCCTCCCCTGGCCCTGGCCACACAGCACCTCCTTGGCCACCTTGCATGGATGCATGTCCTCCCTCTGTCCCTCTTGTGGTGCTGTGGCTGGCCACGTGTCAGGGTTTTCTGTGAGCCTCTCACCTTACAGCCTTTGGGCCCCTGGGCCCCTGCCCTGCCTGAGCCCTGCGCTGGCCAGACGCAGGTAGGTGCCAGGGGAGGCCTTGCCTCTGGGCACTATAGGGGGCAGCCCCCTGCCTTGTGACCTCCCTCCATGCCCCATGACCTCCTTCAACTCGTCTTGAGGGTCTGGTCACCACGGAGGGGAGAAGGGAGACACAGAGGCCCAAGTGGCTGTTCTGGGACCATGGAAGCCTGGGTCACAGAGGCAGGTACCAGCAGTCCTGCCCCCACCCCCGTCCCTGCTGGCCTCCAGCCAGTGCCACTTGGAGTCCCCTGCACCGTGCCACTTTCCATCCCCACACCATTGCCTGCTCCTCCCATGGGGCTTT
GCGGGCGGCAGAGCCGCCCAGCCACGTGTCCTGCCCACAGAGGCTGGAAATGGGCCTCAAACCTCGGCACCTGGTGAGGCCCTGCTTCTTCCTGTGGGGCCTAAGAATCAGGGTCCCTTTCTGGGCTCTGTCCTCCCCACACCACCCAGACTTTGGGGGTCATGGCAGGCGTGCCACAGCTTGGGGCCATGCAGGCGTCGTGAAGACGCCTGGGAGGCAGGATCCCCACCTTGGAGCTCACAGCATTGTCTTGGTTGGGGGACCATGTGGGCGGCAGGTCCTGGCTGTGCTCGCTCCCCACCCTGTCATCCACATGGTGCTCTGTCGGGGGCCTGGGGCATGCTGCCCTCCAGGGTGGTGCTGCCAGGTGCAGCCAGGGAGCCTCCCTCCAGCCTTGGACAGCATGTGGCCGTGGGAGCTCTGGGTTGGGCCTGGGGTGACCTGGGGGTGAGGCAGGCAGAGCTGGTCCAGCCCCCACCCAGCACCGTTCACAGGTTCATAACAACTCAAGCATTTTGGCACAGCTGGAGCCACTTCTCCTGGCCCTGCCAAGGACACCAGCCAAGCTCCAGGCGCCACGTTGGCAGACCAGGGCCTCTTTGGCTCCCACATGCCTGGGCTGCGAGGATGGCCCAAACCTCCCCACCGCAGGGACCTGTTCCTCTGGTTCCTGCTTCCCCAGCCCCTGGCGCTTGGCTCTGCACTGGGGCCTTCCACTGCAAGGCCTCTCCCCTGAGTCACACCAGGGCAGGCTGTCCTGGGGATGGCAGAGAAGGGCCAGGTGAGAAGAACACCTGGGTGAGGGTGTTGTCGGGACCCAGAGAGAAGGAAGCACAGTTCCCAGGTCTTCGCCCCAAGACAGCTGGGGCCAGCGGAGGCTGCAGGAGGCGGCTGGGAGGGTGTGCAGGGTGACAGCTGGCATGCGTGTCTCTACGCCAGGTTCTACTTCCAGTGTGAAGGACATGAGCCTACCCTCTTGCTCATCAAGACCACGCAGAAGGAGGTGAGCAGGGGCCCTGGAGCCAGGGCTGGCTCTGATGGGCTCCAGGGCTGGCTCTGATGGGCTCCAGGGCTGGCTCTGATGGGCTTCAGGGCCTAGGCCTCCTGGGCCAGATCCAGAGTCAGAGCGTGGGTATGGCCAGCACATGGGGCTCATCCCACACTCAGGGCCACAAGGGGAAATGAGACTATCCCCAACACAGCCCCCGCCCACCCTCATTGCCAGCCCCAAGCCAGGGGCAGGGTGCACACACCTGCAACACTGCCTTTCCCACACCACTCCTGCCCTGGGGTGGGGGTGGGAGACGGCAATGCCTGCACCCCCACCTGTGACCTGGGACAGGCCCGTCAGTAGTCTGGAGCACAGGGACGCTCCTGGGGGCCTGCGGGCACAGCCTCACCCAGACCTTTCCCCCAGGTGTGTGGTGCTTACCTGTCCACAGACTGGAGTGAGAGAAATAAGTTTGGAGGCAAACTGGGCTTCTTTGGGACCGGAGAATGCTTTGTGTTTAGGGTGAGTGGGGCCAAGTGTCCCCAAACCCCCACGCAGACCCTGTAGCTGCATCCCTCCAGGAGCACCCGCCTGCCCTGGGGACACTGTTGGGTGTCGCCATGGCAGTCACCCAGCAGCGTCATCGCCCTGTGTGCTTCCGGGTTTGATCATTCAGCCGTGCGCTGCTCCGGGGCAGGGGGCTTCATCTGCTCGAGCCACCAGCTCCCCAGCCCCTGGCTCGGGCTGCACCCACCTTGGGCTCTGGGTGCAGATTCACGGGATGAAACGGGTTGTGGCTCTGGGGCAGAGGGGCCTGCGAACGCCCGCGCCAGCTCCTCACACTCCCCTTCCACCCCAGCTGCAGCCTGAGGTGCAGCGCTACGAGTGGGTGGTGATCAAGCACCCCGAGCTGACCAAGCCCCCACCCTTGATGGCTGCCGAGCCCACCGCCCCACTCAGCCACTCCGCCTCCTCAGACCCCGCTGACCGCCTCTCGCCCTTCCTGGCCGCTCGCCACTTCAACCTGCCCTCCAAGACCGAGTCCATGTTCATGGCGAGGGGCAGCGACTGCCTCATCGTCGGTGAGCGCCAGCAGACGGGGCTCTGGGATGAGGGTGTGGGGTCCGGGCAGCTGAAGCTGCTGCACCCAGCCCTCCCTGACCGGGGTGGCAGAGAAGAGGCCCTGGGTGTCAGGGTGGACCAGGCATGATGGGTGGGAGGGGGCTGGAAGGGAGAGACCAGCCTGGACAGCTGGTCCTGGGGGCTATGGAGGGTCAACGGTCTGTGCGGTTTCAGAGAGGCCCGTGCAGGGCAGGACAGCTGGGACAGCAGGTGAGGTGCCTGGGTCAGTGCTGATAGGGCAGTCAGGCCGCCACTGACCTGAGCATCCTGCAGGGGGAGGAGGCGGCCAGGCGCTCTACATCGATGGGGACCTGAACCGGGGCCGCACAAGCCACTGCGACACCTTCAACAACCAGCCCCTCTGCTCCGAGAACTTCCTCATTGCTGCCGTGGAGGCCTGGGGCTTCCAGGACCCTGACACCCAGTGACGGCCTGTGCCACGGTGACTGAGCCGTGGTGGGGCGGTGGGCCGAGGCTGGGCTGCCGCCTCGGGCAGCAGAGAGCAGATGAAACCCCCATGTGGTAGGCAGGGTTGGGGGACGGCAGGACCCCATGGCCAAGCCTGGCGTTGCCTGGACCTGCTGCTGCCTCTACCTGGGGTTTGGGCTGGGCTTCCCCAGTCCACCTGCATCTGGGTCAGAGCTGGAGGGCCTGCTGTGCCCCCAGCCCCACCCAGAGCTGGCATAGGAAGTACCTTCCTCCTCCGTGGAGGCTTCCATAGCCCAAGGCCTTGGGAGTGTCTGGGTCTTGCTGCCCCTGAGCCTCTCTAGGCAGCCTGAGCCCCTGGGGTGGGAGTACAACGGCAGTGGGAACGTGCAGCTAAGGGTGGGCCTGTGGTGCCCCCTGCTGGTGCCGCATAGCATCGCGCCCTCCTGAGCAGGGCCCTGCAGCCTGGCTGGCTGGCGACTGAATCCCAGCGTAGATCCCGAGAACAGACTGGCACCCTTGGGCCTGCCCCCTGGCGGACCCCACCCCCTGTCCTGGGCGTTTGCCCCAGTTCCCTCCCCAGGCCTCCTGGGCCACCTCTCACATTAACCCTTCTTGGCTGCCTCTGAGGCTCCCCTGGGCTGCGTTTGGGAGCTGCTGGGTGGGAGGAGGAGGGTGGGATTTGTGCTGGGCTCCACCCCCAGGGAGGGTGGGAGCTGGAGGGGGATGTCACATGTCCTTGTGTTTCTGCAGAGCCTGAAGCTTTTGCTGGGCCTCCCTGCGTGTTCCCATCTGAAGAGGTAGCCCCGGGAGAGGCCCTCAGGGACCGACCCAGACCAGCAAGCTCCATTTCCAGGGGTCTGCCCAGAGAAGCCTGGACCCAGGGGGCTTCTCAGCTCCCCTCCCTTCCAGCCCAGGCCTCCTTGAGCTCCTGTAGCCTCTGCAGCTGCCCATTTCACCTCTTTGTCATTGCAATGACCTGGGGCCCAGGGTCACGCCCAAGCCCCTCTTTGTGGCATGCTCATCTCAGTGCAGCCCCAACTGCTTCTCTGCACCAGGCCCCGTGCCCTCCCCTGGCCCTGGCCACACAGCACCTCCTTGGCCACCTTGCATGGATGCATGTCCTCCCTCTGTCCCTCTTGTGGTGCTGTGGCTGGCCACGTGTCAGGGTTTTCTGTGAGCCTCTCACCTTACAGCCTTTGGGCCCCTGGGCCCCTGCCCTGCCTGAGCCCTGCGCTGGCCAGACGCAGGTAGGTGCCAGGGGAGGCCTTGCCTCTGGGCACTATAGGGGGCAGCCCCCTGCCTTGTGACCTCCCTCCATGCCCCATGACCTCCTTCAACTCGTCTTGAGGGTCTGGTCACCACGGAGGGGAGAAGGGAGACACAGAGGCCCAAGTGGCTGTTCTGGGACCATGGAAGCCTGGGTCACAGAGGCAGGTACCAGCAGTCCTGCCCCCACCCCCGTCCCTGCTGGCCTCCAGCCAGTGCCACTTGGAGTCCCCTGCACCGTGCCACTTTCCATCCCCACACCATTGCCTGCTCCTCCCATGGGGCTTT
Task1_train_22243
This is a variant in ATP6V0C (ATPase H+ transporting V0 subunit c), located on Chromosome 16. Is this mutation a likely cause of disease or not?
Pathogenic; not provided
CCACCTCTGACATATGTAGTCTTCTGCAGGTCAGGCTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCAGAGATTCACTCTTGTTGTTTGTTTGAGACGGAGTCTCTCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGACTCACTGCAACCTCCACTCCTGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCCTAGTAACTGGGATGACAGGCATGCGCCACCACTCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTACCCAGGCTAATCTCGAACTTCTGACACCAGGTGATCCGCCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAGTCAGGCTGGTTATTGATCTGCTCCCCTAAAAGACCATGGCATGAGTTCTGTGGGCAGAGAGGGGGCAGGGAGTTGCCAGTGCAGTCCCCACAAGCAGCTCAGTAGGCCCCTGTGGTGGCCCTGGAGGGCAGCTGGCAGAAGTCAGAAAGGCAAATGAGCCCCCGTGACACTGCTGTGTCCACAGAATTCTCCACTTTGAGAATAGGGCCCAGGAGAGGGGAACTGAAAAGAAAGGCAACATTCTCTTGGGAGAGGAAGGAGGGACAGCTCTGGAGGAGACAGGCCACCCTGGAGCCCAGCCCACCAGCACTGTTGCGGTGGGAGGCTTGGGCCCTCTGGCCAGGCTCCTGTGTGCTTGGAGCCACCCCGTGTGCAGGGGAGACCTCTCTGGGAGGTCAGCTGAGGCCTCGTAGTTGGACTGTTGATGATCCCCGTCGTCTTCTCTGCCCCCATCCTCTTCTTGGCTCACCCTGTCTCCTGTCTGGTAGAGAAGATTCTCCAATCTGTCAAGGGTTCAGGCCTGCTGTGTGGCTGAGGGTGCTGAGAGCTGCCCTTTCTGGCAGAATGTTTGGCCCTCCTAGGTTAATATTTGGGGCTGGGAGCGTTGGGGAGCTTGGCCTGGGCAGTGAGTCAAGGGAGCTCTGGCCTGGGTGACAAGAGTGGCCAGGTCAGCTGCTTCTGACCCTCCGGTCACACCCTGTAGCAGTGGCTTTGCCATCCCCAAGACCTTTGGTGGCTTTTCCAGCATGTTGTCCTGGGCAGTAGCCCCAAGGGTCGACTGACCCTGACCCCACATGGGGGCTGCTGAGGCTGCACTGAGGCTCCCTGGGGTGACAGGTGGGTTCACTGCAGAGCCAGGAGCCCCAGATGGGTCACGCCGCCCCAAGAGCTGCTGCTGGAGGAAGAGCTGGACTCTGAGGGTGGGGGCCTCACGTAGAGGAAGGAGGAGTGGCTGTCCTGGCCTCCTTTTGCTTGCCCGTGGCTGTTCCTCCTGGGTCCTCTTGCCCTGGGCTGGATGCCTTCTTCGGCTCCCCCTCTGCATGTGATAACTTGGGGTGGCCCTTGGAGCTGTGCCAAAGCTACACCTCGGGGTCCTAGTCTCAACTGGCCTGCGTACTGCTGTGGGCTCACCCCGCCTTCCTCCCACAGCCCTGGGCGCTGCCTATGGCACAGCCAAGAGCGGTACCGGCATTGCGGCCATGTCTGTCATGCGGCCGGAGCAGATCATGAAGTCCATCATCCCAGTGGTCATGGCTGGCATCATCGCCATCTACGGCCTGGTGGTGGCAGTCCTCATCGCCAACTCCCTGAATGACGACATCAGCCTCTACAAGTGAGCACTGGGGTCAGGCCCCTGCCCAGGGCTGGAGGACTGCAGGGAGGGGGGCGGTTCACCTGTGGGTGGTGACCCGGACCCTTGTCTCCCCCTGGTTGGCAGGCTGCTGATGTCAGTCCTCTCTTCTCGCCCCCAGGAGCTTCCTCCAGCTGGGCGCCGGCCTGAGCGTGGGCCTGAGCGGCCTGGCAGCCGGCTTTGCCATCGGCATCGTGGGGGACGCTGGCGTGCGGGGCACCGCCCAGCAGCCCCGACTATTCGTGGGCATGATCCTGATTCTCATCTTCGCCGAGGTGCTCGGCCTCTACGGTCTCATCGTCGCCCTCATCCTCTCCACAAAGTAGACCCTCTCCGAGCCCACCAGCCACAGAATATTATGTAAAGACCACCCCTCCTCATTCCAGAACGAACAGCCTGACACATACGCACGGGGCCGCCGCCCCCAGTAGTTGGTCTTGTACATGCGCAGTGTCCTAGTGCCCATCGTCTGTTTCCCCGGCCTTGCCCCCGCCCGCCCCGTGCCGTGGACATCTGGGCCCACTCATCGCCCCTCCAGGCCCCCGGCGCCCCACCCCCTAGAGTGCTCTGTGTATGCGGATGATTTAGAATTGTCATTTCTCTTTACTGGATGTTTATTTATAAAGATCTGGCCTGTTCCTGCGTCTGCGGAGCGGCCCTTGTCTCCCAGCTATCTATAACCTTAGCTAGAGTGTCGCCTTGTGGGTTCCTGTTGCTGAGACTTCCTGGATGGAGCCGCCCTCACCGCCGGGCCCGTGGCCCTGCGCGGAGCTGTGTCCAATAAAGTTCTTGGATGTGACGGGCCTGTGTCTGCTCAGCTTGTTGGGGGCGGGGGCGGGCGGGCGGGCGGGCGGGCGCCGGGCGCTGCCGGTCACGTGGGCTGGCTCGATCACGTGGGCGCGGCGGTCACGTGGCGCGCCGCTTCAGTCAGCTGAAGGTCACGTGGGCGCGGTCTCAGCTCTCGGCTGGGGTTCGTCACTGGGCGCGGGATTTGGCCGCCGCGGGGCTCCGGAGCCGCTCGCTCCCGACACGGCTCACGATGCGCGGCGAGCAGGGCGCGGCGGGGGCCCGCGTGCTCCAGTTCACTAACTGCCGGATCCTGCGCGGAGGGAAACTGCTCAGGTGGGCGCGGGCCGGGGACTGCGGGGCTGGGGACCGGGCGGGGTGCAGGGTGCGGGGCCGGGGACCGGGCGGGGTGCAGGGTGCGGGGCCGGGGACAGGGCGGGGTGCAGGGTGCGGGGCCGGGGACCGGGCGGGGTGCAGGGTGCGGGGCCGGGGACCGGGCGGGGTGCAGGGTGCGGGGCCGAGGTCAGGCCCGCGATGCGAGCGCCCACCCACTGCGTCCCCAGGGAGGATCTGTGGGTGCGCGGAGGCCGCATCTTGGACCCAGAGAAGCTGTTCTTTGAGGAGCGGCGCGTGGCCGACGAGCGGCGGGACTGCGGGGGCCGCATCTTGGCTCCCGGATTCATCGACGTGCAGATCAACGGTGCGGCCCGGGGCCGGCAGGGGAACCCAGGGGAGGAGCTCTGAGCTCCATGCGACACTTCCTTTTCTGTGGCTGCAGGTGGATTTGGTGTTGACTTCTCTCAAGCCACGGAGGACGTGGGTTCGGGGGTTGCCCTCGTGGCCCGGAGGATCCTGTCGCACGGCGTCACCTCCTTCTGCCCCACCCTGGTCACTTCCCCACCGGAGGTTTATCACAAGGTGAGGTGAGGCTCCCTGGCTGAGGTGGAGGGGGCTCCCGGAGCAACCAGCGCCCTCATTTTCAAACTCACGCCCCACCCCCCACCCCCAGCACGTATTCCATGGTCCTGAGTCTGGCCTCCTTTGATGACCGGATCTGGGCCTGGGTCCCGCCCCTGTGCTTCTTTATCAGTTGTCGCTCTGCCTGGCCTCCCTAGACCCTCTGTCCTCCGCAGCTGTCTCCACACTGCTGGCTCAGCACCGTCTGAGCCATAGGCCGTCCCCACCCCCTGCACTGCACTCTGGCTGCCTCCAGGCTTCAGAAACCATCCCCTTAACCAAGGCCGCAGGGGATTCTGTGATTGGCACAGCGATAGTCCCTGGTCAGGCTCTTCCTCCCTAACCTGTCTGATGTGTGACTCAGTGGAACACGCCTTCCAGAAGAGACTCCCCCTGCTCCTGTACTGCTTGCCCCACGCTTCCATTTTCTTTCCTGCCCGGAAGAAATTTGGTTGTCCTTGGTCTTTTTTTATTTTAATTTTTACTTAGGTTCTACAGGGTTAACTTTTTGCTGTATGTTACTACTATTCAGGCTCCTCTTGGCTGTACCTGTGCTACTGTTTTTTACTGAACTATTTGAGAGTAGGTTGTATCCAACATGCTTTTT
CCACCTCTGACATATGTAGTCTTCTGCAGGTCAGGCTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCAGAGATTCACTCTTGTTGTTTGTTTGAGACGGAGTCTCTCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGACTCACTGCAACCTCCACTCCTGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCCTAGTAACTGGGATGACAGGCATGCGCCACCACTCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTACCCAGGCTAATCTCGAACTTCTGACACCAGGTGATCCGCCCGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCAAGTCAGGCTGGTTATTGATCTGCTCCCCTAAAAGACCATGGCATGAGTTCTGTGGGCAGAGAGGGGGCAGGGAGTTGCCAGTGCAGTCCCCACAAGCAGCTCAGTAGGCCCCTGTGGTGGCCCTGGAGGGCAGCTGGCAGAAGTCAGAAAGGCAAATGAGCCCCCGTGACACTGCTGTGTCCACAGAATTCTCCACTTTGAGAATAGGGCCCAGGAGAGGGGAACTGAAAAGAAAGGCAACATTCTCTTGGGAGAGGAAGGAGGGACAGCTCTGGAGGAGACAGGCCACCCTGGAGCCCAGCCCACCAGCACTGTTGCGGTGGGAGGCTTGGGCCCTCTGGCCAGGCTCCTGTGTGCTTGGAGCCACCCCGTGTGCAGGGGAGACCTCTCTGGGAGGTCAGCTGAGGCCTCGTAGTTGGACTGTTGATGATCCCCGTCGTCTTCTCTGCCCCCATCCTCTTCTTGGCTCACCCTGTCTCCTGTCTGGTAGAGAAGATTCTCCAATCTGTCAAGGGTTCAGGCCTGCTGTGTGGCTGAGGGTGCTGAGAGCTGCCCTTTCTGGCAGAATGTTTGGCCCTCCTAGGTTAATATTTGGGGCTGGGAGCGTTGGGGAGCTTGGCCTGGGCAGTGAGTCAAGGGAGCTCTGGCCTGGGTGACAAGAGTGGCCAGGTCAGCTGCTTCTGACCCTCCGGTCACACCCTGTAGCAGTGGCTTTGCCATCCCCAAGACCTTTGGTGGCTTTTCCAGCATGTTGTCCTGGGCAGTAGCCCCAAGGGTCGACTGACCCTGACCCCACATGGGGGCTGCTGAGGCTGCACTGAGGCTCCCTGGGGTGACAGGTGGGTTCACTGCAGAGCCAGGAGCCCCAGATGGGTCACGCCGCCCCAAGAGCTGCTGCTGGAGGAAGAGCTGGACTCTGAGGGTGGGGGCCTCACGTAGAGGAAGGAGGAGTGGCTGTCCTGGCCTCCTTTTGCTTGCCCGTGGCTGTTCCTCCTGGGTCCTCTTGCCCTGGGCTGGATGCCTTCTTCGGCTCCCCCTCTGCATGTGATAACTTGGGGTGGCCCTTGGAGCTGTGCCAAAGCTACACCTCGGGGTCCTAGTCTCAACTGGCCTGCGTACTGCTGTGGGCTCACCCCGCCTTCCTCCCACAGCCCTGGGCGCTGCCTATGGCACAGCCAAGAGCGGTACCGGCATTGCGGCCATGTCTGTCATGCGGCCGGAGCAGATCATGAAGTCCATCATCCCAGTGGTCATGGCTGGCATCATCGCCATCTACGGCCTGGTGGTGGCAGTCCTCATCGCCAACTCCCTGAATGACGACATCAGCCTCTACAAGTGAGCACTGGGGTCAGGCCCCTGCCCAGGGCTGGAGGACTGCAGGGAGGGGGGCGGTTCACCTGTGGGTGGTGACCCGGACCCTTGTCTCCCCCTGGTTGGCAGGCTGCTGATGTCAGTCCTCTCTTCTCGCCCCCAGGAGCTTCCTCCAGCTGGGCGCCGGCCTGAGCGTGGGCCTGAGCGGCCTGGCAGCCGGCTTTGCCATCGGCATCGTGGGGGACGCTGGCGTGCGGGGCACCGCCCAGCAGCCCCGACTATTCGTGGGCATGATCCTGATTCTCATCTTCGCCGAGGTGCTCGGCCTCTACGGTCTCATCGTCACCCTCATCCTCTCCACAAAGTAGACCCTCTCCGAGCCCACCAGCCACAGAATATTATGTAAAGACCACCCCTCCTCATTCCAGAACGAACAGCCTGACACATACGCACGGGGCCGCCGCCCCCAGTAGTTGGTCTTGTACATGCGCAGTGTCCTAGTGCCCATCGTCTGTTTCCCCGGCCTTGCCCCCGCCCGCCCCGTGCCGTGGACATCTGGGCCCACTCATCGCCCCTCCAGGCCCCCGGCGCCCCACCCCCTAGAGTGCTCTGTGTATGCGGATGATTTAGAATTGTCATTTCTCTTTACTGGATGTTTATTTATAAAGATCTGGCCTGTTCCTGCGTCTGCGGAGCGGCCCTTGTCTCCCAGCTATCTATAACCTTAGCTAGAGTGTCGCCTTGTGGGTTCCTGTTGCTGAGACTTCCTGGATGGAGCCGCCCTCACCGCCGGGCCCGTGGCCCTGCGCGGAGCTGTGTCCAATAAAGTTCTTGGATGTGACGGGCCTGTGTCTGCTCAGCTTGTTGGGGGCGGGGGCGGGCGGGCGGGCGGGCGGGCGCCGGGCGCTGCCGGTCACGTGGGCTGGCTCGATCACGTGGGCGCGGCGGTCACGTGGCGCGCCGCTTCAGTCAGCTGAAGGTCACGTGGGCGCGGTCTCAGCTCTCGGCTGGGGTTCGTCACTGGGCGCGGGATTTGGCCGCCGCGGGGCTCCGGAGCCGCTCGCTCCCGACACGGCTCACGATGCGCGGCGAGCAGGGCGCGGCGGGGGCCCGCGTGCTCCAGTTCACTAACTGCCGGATCCTGCGCGGAGGGAAACTGCTCAGGTGGGCGCGGGCCGGGGACTGCGGGGCTGGGGACCGGGCGGGGTGCAGGGTGCGGGGCCGGGGACCGGGCGGGGTGCAGGGTGCGGGGCCGGGGACAGGGCGGGGTGCAGGGTGCGGGGCCGGGGACCGGGCGGGGTGCAGGGTGCGGGGCCGGGGACCGGGCGGGGTGCAGGGTGCGGGGCCGAGGTCAGGCCCGCGATGCGAGCGCCCACCCACTGCGTCCCCAGGGAGGATCTGTGGGTGCGCGGAGGCCGCATCTTGGACCCAGAGAAGCTGTTCTTTGAGGAGCGGCGCGTGGCCGACGAGCGGCGGGACTGCGGGGGCCGCATCTTGGCTCCCGGATTCATCGACGTGCAGATCAACGGTGCGGCCCGGGGCCGGCAGGGGAACCCAGGGGAGGAGCTCTGAGCTCCATGCGACACTTCCTTTTCTGTGGCTGCAGGTGGATTTGGTGTTGACTTCTCTCAAGCCACGGAGGACGTGGGTTCGGGGGTTGCCCTCGTGGCCCGGAGGATCCTGTCGCACGGCGTCACCTCCTTCTGCCCCACCCTGGTCACTTCCCCACCGGAGGTTTATCACAAGGTGAGGTGAGGCTCCCTGGCTGAGGTGGAGGGGGCTCCCGGAGCAACCAGCGCCCTCATTTTCAAACTCACGCCCCACCCCCCACCCCCAGCACGTATTCCATGGTCCTGAGTCTGGCCTCCTTTGATGACCGGATCTGGGCCTGGGTCCCGCCCCTGTGCTTCTTTATCAGTTGTCGCTCTGCCTGGCCTCCCTAGACCCTCTGTCCTCCGCAGCTGTCTCCACACTGCTGGCTCAGCACCGTCTGAGCCATAGGCCGTCCCCACCCCCTGCACTGCACTCTGGCTGCCTCCAGGCTTCAGAAACCATCCCCTTAACCAAGGCCGCAGGGGATTCTGTGATTGGCACAGCGATAGTCCCTGGTCAGGCTCTTCCTCCCTAACCTGTCTGATGTGTGACTCAGTGGAACACGCCTTCCAGAAGAGACTCCCCCTGCTCCTGTACTGCTTGCCCCACGCTTCCATTTTCTTTCCTGCCCGGAAGAAATTTGGTTGTCCTTGGTCTTTTTTTATTTTAATTTTTACTTAGGTTCTACAGGGTTAACTTTTTGCTGTATGTTACTACTATTCAGGCTCCTCTTGGCTGTACCTGTGCTACTGTTTTTTACTGAACTATTTGAGAGTAGGTTGTATCCAACATGCTTTTT
Task1_train_22244
A variant on Chromosome 16 in gene THOC6 (THO complex subunit 6) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
CACCCCGTATTCATCCTGCAGACCAGTCCTGAGCACCCAGCCAAAGCTCCTGCGGCCCTTGGTCAGGCCCACCCTGGTCCCCTACACGCACCTGGCGTCCAGGCCCCAAGTCACCCCCAAGGCGGCCCGCGGGAGGCGCTGGGCCCCTCCCTGGGGGCCTCGCTGCAAGGGCTGCTGCAGGATCATTGGGTTTTGGGGTCCTGCGGGTGGGATCTGGGCGACAGGGGAGGAGTCTCTGAGGGCGTGGCCAAGAGAGGATGGGCGTGGCTTTAGGCGGGCACAGCCGCGAGGTTCTGCGCGGGCGCGGAAGACGGGCGGCGCGTGGCGGAAGGCAGGCTTGCTCCTCGGGGTGGGGGAGGGTATCCGGCTTAAGGGGGCTGCGGTGGACACCACTTCTTAATGTCGGGGGTCTTCGCGGCGCTCACCTCGGCTCCTAGGGTTCGGGACGGTACGCACCAGCCACCTTCGCGCCGAAGGCGGTAGGGCGCCACGGAGAGGAACCGCTCTAGGCACGTAAGGCCTCGTGAGGTTGCGTCGCGCGCGGAGCACTCTGGGACTTGTAGTTCTGGAGATGGAGCGAGCTGTGCCGCTCGCGGTGCCTCTGGGTCAGGTGAGACGGACGTGGTGCGCGTTGCCTTCTGGGGTTTGTAGTTCACGCATGGCTGGGACGGGGCGGGCAGGGAATCGTGCCCTGAGCCCTGTTTTGCCTGGGCTATTTGTGGGACTCAGACTCTGACCAGGGGGGCGGGATAGTAACCCAGAAGTGCTTCAGGGGCTTAACGCAAGTCAGAGAGTAGGAATTATAAATCAGTACGTTTTTCTATGTTGGGGTAGTAGAGGTACTTTTTTTTTTTTTTTAATTTTCTAGTTCTTGCAAAGCACTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGGCTAGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCCTCCAAGTAGCTGGGACTATAGGCGTGTGCCACCATGCCCAGCTAATTTTCGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCTGCCTGCCTTGGCTTCTCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCCGGCCAAATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATTTCACTCTTGTTGCCCAAGCTGGAGTGCAGTGGCTCCATCTGGGTTCACCGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGCGCCACCACTCCCAGCTAATTTTGCATTTTTAGCAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGGTCCACCTGCCTTGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCCACATTTTTAAATTTTTTTTGAGACAGAGTCTCACTATGTTGCCCAGGCTGCTCTCAAACTCCTGGCCTCCCAGAGCGCTGGATTACAGGCATGAACCACCACACCCGGCTTAAGCACTGAGTGACAGCCCCATGTAAAGCTCTTGTCTATACACTAGCTCATCTAATTGTGATGGAATCTTCTGTGAGCTCCATTTGTCAGTTGAGGAAGCTGGCAGGAGAGGCCTGGGTGCTTGCTCAGAGGTCCCTGAGGCATCACCTCAACTCTCCCCTTCTTCAGTGTCTTCTTGGAGCCACCCATGGGACTGCATGGGCAGGTGCTGGCTTGGGGCGGGGCCGCCTCAAAAGAAGGCTGAGAAGTCAGGACAGTGGGAGGCCTGGCAGGTTTTGGGGGAAGCAGGGAGGAATCTGTGGATGGGAGGTTTCATACGTCCCAGGCAGGCCTCATCCAGTCTTTCCCTGCAGACAGAGGTGTTCCAGGCCTTGCAGCGGCTCCATATGACCATCTTCTCCCAGAGCGTCTCACCATGTGGGAAGTTTCTGGCGGCTGGCAACAATTACGGGCAGATTGCCATCTTCAGGTACCCTCTGCCGCTGTCCACCCATTAGCCCTGGCACTTGGCCCTCATGGGACGGATGCCCCCGTTTCTGACTCCTGGGTCCCCTCCGCTGTCCCTGCAGCTTGTCCTCTGCTTTGAGCTCAGAAGCCAAAGAGGAAAGTAAGAAGCCGGTGGTGACTTTCCAAGGTGGGTATACCTGTGGAGTCTGGCTTCAGGACTTTGGGTGGGATTGGCTCACTCAGTTCTGCATTTCTCTTTAGCCCATGATGGGCCCGTCTATAGCATGGTTTCCACCGATCGACATCTGCTTAGTGCTGGGGATGGGGAGGTGAAGGCCTGGCTTTGGGCGGAGATGCTCAAGAAGGTAAGGAGTCGAGCTTGGGAAAGGGCTGGGGTGCCTGGACCCAGAGAGAGCCTTTGAGGTCACCTGGTATTTTCTCTTTTGAAGGGCTGTAAGGAGCTGTGGCGTCGTCAGCCTCCATACAGGTGAGCAGGGCCACGTGGATAGAGGGTGCATCAGGGTGAAGCCACTTCCTCACTGACCTTGCCTTTCCTTCCCCAGGACCAGCCTGGAAGTGCCTGAGATCAACGCTTTGCTGCTGGTCCCCAAGGTCTGAGCCCCATGTGACTGTTCTTGGTCCAAACTTTGATCCTTCACCCTCTGCCTATCCTGATTTGACATTGACTTTCTGCCTCATCCTGCTCCTCCACAGGAGAATTCCCTCATCCTGGCTGGGGGAGACTGTCAGTTGCACACTATGGACCTTGAAACTGGGACTTTCACGGTGAGCAGGGTCCTGGAGCCCTAGAGCAGGTCTAGGTCAGGGAGAGGCACTCTTCCTAGGTCTCCTCCTGACATCGCCCCTCTACATGCAGAGGGTCCTCCGGGGCCACACAGACTACATCCACTGCCTGGCACTGCGGGAAAGGAGCCCAGAGGTGCTGTCAGGTGGCGAGGATGGAGCTGTTCGACTTTGGGGTAAGCAGGTGGCTGGTTGGAGGGCAAGATGGCAGTGAAGGAGGCTGAGGCAAGTGGGGCACCACTCACAGTTCTTTCCCCGCAGACCTGCGCACAGCCAAGGAGGTCCAGACGATCGAGGTCTATAAGCACGAGGTGAGGGTGTGACCGTGGCCATTGTCCTCTTCTCCCCCAACTCCTTGAATTCTCCAGGTCTTCACCTCTTTCCCTCCTCCCCTCCCCATCCCAGGAGTGCTCGAGGCCCCACAATGGGCGCTGGATTGGATGTTTGGCAACTGATTCCGACTGGATGGTGAGCTGGGCAGACTGTGGGATGGGATGGCAGCTCCGGGCCCTGTCAGCTGTGGGCCTGTGGTTCACAGCTGGGGACTCCCACCTTTCTGTCCAGGTCTGTGGAGGGGGCCCAGCCCTCACCCTCTGGCACCTCCGATCCTCCACACCCACCACCATCTTCCCCATCCGGGCGCCACAGAAGCACGTCACCTTCTACCAGGACCTGGTGAGGCCCTGTGTCTCACTTCTGCCACCCCCACTGACTCTTCCCTTCAGTCCTGACCCCTGAGCACCTTCCCTGTCCTCTGCAGATTCTGTCAGCTGGCCAGGGCCGCTGCGTCAACCAGTGGCAGCTGAGCGGGGAGCTGAAGGCCCAGGTGCCTGGCTCCTCCCCAGGGCTGCTCAGCCTCAGCCTCAACCAGCAGCCTGCCGCGCCTGAGTGCAAGGTGGGTCCGGCAGGGGCCGCGGAGCGGCTGGGAGGCAGGGGTGTGGGCAGGCCAGTCATGCCCCTCTTTCCTCCAGGTCCTGACAGCTGCAGGCAACAGCTGCCGGGTGGATGTCTTCACCAACCTGGGTTACCGAGCCTTCTCCCTGTCCTTCTGATCTCTGACGACACCCCCAGCCAGCTCAGGGTTTTAGAGTGTTTTTCATTTTCTTTTTTTTTTTTTTTTTACAATAAAGTTTCAGGCTTTTTTACCATGCTCTTTCTTTCTATGAATGGGGGCCAAATCGGTGGAGTGATTTATATATTACTCTGTCCGATCTTGATACATAAATACCCAGCCCCATCCCTGCCC
CACCCCGTATTCATCCTGCAGACCAGTCCTGAGCACCCAGCCAAAGCTCCTGCGGCCCTTGGTCAGGCCCACCCTGGTCCCCTACACGCACCTGGCGTCCAGGCCCCAAGTCACCCCCAAGGCGGCCCGCGGGAGGCGCTGGGCCCCTCCCTGGGGGCCTCGCTGCAAGGGCTGCTGCAGGATCATTGGGTTTTGGGGTCCTGCGGGTGGGATCTGGGCGACAGGGGAGGAGTCTCTGAGGGCGTGGCCAAGAGAGGATGGGCGTGGCTTTAGGCGGGCACAGCCGCGAGGTTCTGCGCGGGCGCGGAAGACGGGCGGCGCGTGGCGGAAGGCAGGCTTGCTCCTCGGGGTGGGGGAGGGTATCCGGCTTAAGGGGGCTGCGGTGGACACCACTTCTTAATGTCGGGGGTCTTCGCGGCGCTCACCTCGGCTCCTAGGGTTCGGGACGGTACGCACCAGCCACCTTCGCGCCGAAGGCGGTAGGGCGCCACGGAGAGGAACCGCTCTAGGCACGTAAGGCCTCGTGAGGTTGCGTCGCGCGCGGAGCACTCTGGGACTTGTAGTTCTGGAGATGGAGCGAGCTGTGCCGCTCGCGGTGCCTCTGGGTCAGGTGAGACGGACGTGGTGCGCGTTGCCTTCTGGGGTTTGTAGTTCACGCATGGCTGGGACGGGGCGGGCAGGGAATCGTGCCCTGAGCCCTGTTTTGCCTGGGCTATTTGTGGGACTCAGACTCTGACCAGGGGGGCGGGATAGTAACCCAGAAGTGCTTCAGGGGCTTAACGCAAGTCAGAGAGTAGGAATTATAAATCAGTACGTTTTTCTATGTTGGGGTAGTAGAGGTACTTTTTTTTTTTTTTTAATTTTCTAGTTCTTGCAAAGCACTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCTAGGCTAGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCCTCCAAGTAGCTGGGACTATAGGCGTGTGCCACCATGCCCAGCTAATTTTCGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCTGCCTGCCTTGGCTTCTCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCCGGCCAAATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATTTCACTCTTGTTGCCCAAGCTGGAGTGCAGTGGCTCCATCTGGGTTCACCGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGCGCCACCACTCCCAGCTAATTTTGCATTTTTAGCAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGGTCCACCTGCCTTGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCCACATTTTTAAATTTTTTTTGAGACAGAGTCTCACTATGTTGCCCAGGCTGCTCTCAAACTCCTGGCCTCCCAGAGCGCTGGATTACAGGCATGAACCACCACACCCGGCTTAAGCACTGAGTGACAGCCCCATGTAAAGCTCTTGTCTATACACTAGCTCATCTAATTGTGATGGAATCTTCTGTGAGCTCCATTTGTCAGTTGAGGAAGCTGGCAGGAGAGGCCTGGGTGCTTGCTCAGAGGTCCCTGAGGCATCACCTCAACTCTCCCCTTCTTCAGTGTCTTCTTGGAGCCACCCATGGGACTGCATGGGCAGGTGCTGGCTTGGGGCGGGGCCGCCTCAAAAGAAGGCTGAGAAGTCAGGACAGTGGGAGGCCTGGCAGGTTTTGGGGGAAGCAGGGAGGAATCTGTGGATGGGAGGTTTCATACGTCCCAGGCAGGCCTCATCCAGTCTTTCCCTGCAGACAGAGGTGTTCCAGGCCTTGCAGCGGCTCCATATGACCATCTTCTCCCAGAGCGTCTCACCATGTGGGAAGTTTCTGGCGGCTGGCAACAATTACAGGCAGATTGCCATCTTCAGGTACCCTCTGCCGCTGTCCACCCATTAGCCCTGGCACTTGGCCCTCATGGGACGGATGCCCCCGTTTCTGACTCCTGGGTCCCCTCCGCTGTCCCTGCAGCTTGTCCTCTGCTTTGAGCTCAGAAGCCAAAGAGGAAAGTAAGAAGCCGGTGGTGACTTTCCAAGGTGGGTATACCTGTGGAGTCTGGCTTCAGGACTTTGGGTGGGATTGGCTCACTCAGTTCTGCATTTCTCTTTAGCCCATGATGGGCCCGTCTATAGCATGGTTTCCACCGATCGACATCTGCTTAGTGCTGGGGATGGGGAGGTGAAGGCCTGGCTTTGGGCGGAGATGCTCAAGAAGGTAAGGAGTCGAGCTTGGGAAAGGGCTGGGGTGCCTGGACCCAGAGAGAGCCTTTGAGGTCACCTGGTATTTTCTCTTTTGAAGGGCTGTAAGGAGCTGTGGCGTCGTCAGCCTCCATACAGGTGAGCAGGGCCACGTGGATAGAGGGTGCATCAGGGTGAAGCCACTTCCTCACTGACCTTGCCTTTCCTTCCCCAGGACCAGCCTGGAAGTGCCTGAGATCAACGCTTTGCTGCTGGTCCCCAAGGTCTGAGCCCCATGTGACTGTTCTTGGTCCAAACTTTGATCCTTCACCCTCTGCCTATCCTGATTTGACATTGACTTTCTGCCTCATCCTGCTCCTCCACAGGAGAATTCCCTCATCCTGGCTGGGGGAGACTGTCAGTTGCACACTATGGACCTTGAAACTGGGACTTTCACGGTGAGCAGGGTCCTGGAGCCCTAGAGCAGGTCTAGGTCAGGGAGAGGCACTCTTCCTAGGTCTCCTCCTGACATCGCCCCTCTACATGCAGAGGGTCCTCCGGGGCCACACAGACTACATCCACTGCCTGGCACTGCGGGAAAGGAGCCCAGAGGTGCTGTCAGGTGGCGAGGATGGAGCTGTTCGACTTTGGGGTAAGCAGGTGGCTGGTTGGAGGGCAAGATGGCAGTGAAGGAGGCTGAGGCAAGTGGGGCACCACTCACAGTTCTTTCCCCGCAGACCTGCGCACAGCCAAGGAGGTCCAGACGATCGAGGTCTATAAGCACGAGGTGAGGGTGTGACCGTGGCCATTGTCCTCTTCTCCCCCAACTCCTTGAATTCTCCAGGTCTTCACCTCTTTCCCTCCTCCCCTCCCCATCCCAGGAGTGCTCGAGGCCCCACAATGGGCGCTGGATTGGATGTTTGGCAACTGATTCCGACTGGATGGTGAGCTGGGCAGACTGTGGGATGGGATGGCAGCTCCGGGCCCTGTCAGCTGTGGGCCTGTGGTTCACAGCTGGGGACTCCCACCTTTCTGTCCAGGTCTGTGGAGGGGGCCCAGCCCTCACCCTCTGGCACCTCCGATCCTCCACACCCACCACCATCTTCCCCATCCGGGCGCCACAGAAGCACGTCACCTTCTACCAGGACCTGGTGAGGCCCTGTGTCTCACTTCTGCCACCCCCACTGACTCTTCCCTTCAGTCCTGACCCCTGAGCACCTTCCCTGTCCTCTGCAGATTCTGTCAGCTGGCCAGGGCCGCTGCGTCAACCAGTGGCAGCTGAGCGGGGAGCTGAAGGCCCAGGTGCCTGGCTCCTCCCCAGGGCTGCTCAGCCTCAGCCTCAACCAGCAGCCTGCCGCGCCTGAGTGCAAGGTGGGTCCGGCAGGGGCCGCGGAGCGGCTGGGAGGCAGGGGTGTGGGCAGGCCAGTCATGCCCCTCTTTCCTCCAGGTCCTGACAGCTGCAGGCAACAGCTGCCGGGTGGATGTCTTCACCAACCTGGGTTACCGAGCCTTCTCCCTGTCCTTCTGATCTCTGACGACACCCCCAGCCAGCTCAGGGTTTTAGAGTGTTTTTCATTTTCTTTTTTTTTTTTTTTTTACAATAAAGTTTCAGGCTTTTTTACCATGCTCTTTCTTTCTATGAATGGGGGCCAAATCGGTGGAGTGATTTATATATTACTCTGTCCGATCTTGATACATAAATACCCAGCCCCATCCCTGCCC
Task1_train_22245
This mutation occurs in THOC6 (THO complex subunit 6) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
Pathogenic; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
CAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCTGCCTGCCTTGGCTTCTCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCCGGCCAAATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATTTCACTCTTGTTGCCCAAGCTGGAGTGCAGTGGCTCCATCTGGGTTCACCGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGCGCCACCACTCCCAGCTAATTTTGCATTTTTAGCAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGGTCCACCTGCCTTGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCCACATTTTTAAATTTTTTTTGAGACAGAGTCTCACTATGTTGCCCAGGCTGCTCTCAAACTCCTGGCCTCCCAGAGCGCTGGATTACAGGCATGAACCACCACACCCGGCTTAAGCACTGAGTGACAGCCCCATGTAAAGCTCTTGTCTATACACTAGCTCATCTAATTGTGATGGAATCTTCTGTGAGCTCCATTTGTCAGTTGAGGAAGCTGGCAGGAGAGGCCTGGGTGCTTGCTCAGAGGTCCCTGAGGCATCACCTCAACTCTCCCCTTCTTCAGTGTCTTCTTGGAGCCACCCATGGGACTGCATGGGCAGGTGCTGGCTTGGGGCGGGGCCGCCTCAAAAGAAGGCTGAGAAGTCAGGACAGTGGGAGGCCTGGCAGGTTTTGGGGGAAGCAGGGAGGAATCTGTGGATGGGAGGTTTCATACGTCCCAGGCAGGCCTCATCCAGTCTTTCCCTGCAGACAGAGGTGTTCCAGGCCTTGCAGCGGCTCCATATGACCATCTTCTCCCAGAGCGTCTCACCATGTGGGAAGTTTCTGGCGGCTGGCAACAATTACGGGCAGATTGCCATCTTCAGGTACCCTCTGCCGCTGTCCACCCATTAGCCCTGGCACTTGGCCCTCATGGGACGGATGCCCCCGTTTCTGACTCCTGGGTCCCCTCCGCTGTCCCTGCAGCTTGTCCTCTGCTTTGAGCTCAGAAGCCAAAGAGGAAAGTAAGAAGCCGGTGGTGACTTTCCAAGGTGGGTATACCTGTGGAGTCTGGCTTCAGGACTTTGGGTGGGATTGGCTCACTCAGTTCTGCATTTCTCTTTAGCCCATGATGGGCCCGTCTATAGCATGGTTTCCACCGATCGACATCTGCTTAGTGCTGGGGATGGGGAGGTGAAGGCCTGGCTTTGGGCGGAGATGCTCAAGAAGGTAAGGAGTCGAGCTTGGGAAAGGGCTGGGGTGCCTGGACCCAGAGAGAGCCTTTGAGGTCACCTGGTATTTTCTCTTTTGAAGGGCTGTAAGGAGCTGTGGCGTCGTCAGCCTCCATACAGGTGAGCAGGGCCACGTGGATAGAGGGTGCATCAGGGTGAAGCCACTTCCTCACTGACCTTGCCTTTCCTTCCCCAGGACCAGCCTGGAAGTGCCTGAGATCAACGCTTTGCTGCTGGTCCCCAAGGTCTGAGCCCCATGTGACTGTTCTTGGTCCAAACTTTGATCCTTCACCCTCTGCCTATCCTGATTTGACATTGACTTTCTGCCTCATCCTGCTCCTCCACAGGAGAATTCCCTCATCCTGGCTGGGGGAGACTGTCAGTTGCACACTATGGACCTTGAAACTGGGACTTTCACGGTGAGCAGGGTCCTGGAGCCCTAGAGCAGGTCTAGGTCAGGGAGAGGCACTCTTCCTAGGTCTCCTCCTGACATCGCCCCTCTACATGCAGAGGGTCCTCCGGGGCCACACAGACTACATCCACTGCCTGGCACTGCGGGAAAGGAGCCCAGAGGTGCTGTCAGGTGGCGAGGATGGAGCTGTTCGACTTTGGGGTAAGCAGGTGGCTGGTTGGAGGGCAAGATGGCAGTGAAGGAGGCTGAGGCAAGTGGGGCACCACTCACAGTTCTTTCCCCGCAGACCTGCGCACAGCCAAGGAGGTCCAGACGATCGAGGTCTATAAGCACGAGGTGAGGGTGTGACCGTGGCCATTGTCCTCTTCTCCCCCAACTCCTTGAATTCTCCAGGTCTTCACCTCTTTCCCTCCTCCCCTCCCCATCCCAGGAGTGCTCGAGGCCCCACAATGGGCGCTGGATTGGATGTTTGGCAACTGATTCCGACTGGATGGTGAGCTGGGCAGACTGTGGGATGGGATGGCAGCTCCGGGCCCTGTCAGCTGTGGGCCTGTGGTTCACAGCTGGGGACTCCCACCTTTCTGTCCAGGTCTGTGGAGGGGGCCCAGCCCTCACCCTCTGGCACCTCCGATCCTCCACACCCACCACCATCTTCCCCATCCGGGCGCCACAGAAGCACGTCACCTTCTACCAGGACCTGGTGAGGCCCTGTGTCTCACTTCTGCCACCCCCACTGACTCTTCCCTTCAGTCCTGACCCCTGAGCACCTTCCCTGTCCTCTGCAGATTCTGTCAGCTGGCCAGGGCCGCTGCGTCAACCAGTGGCAGCTGAGCGGGGAGCTGAAGGCCCAGGTGCCTGGCTCCTCCCCAGGGCTGCTCAGCCTCAGCCTCAACCAGCAGCCTGCCGCGCCTGAGTGCAAGGTGGGTCCGGCAGGGGCCGCGGAGCGGCTGGGAGGCAGGGGTGTGGGCAGGCCAGTCATGCCCCTCTTTCCTCCAGGTCCTGACAGCTGCAGGCAACAGCTGCCGGGTGGATGTCTTCACCAACCTGGGTTACCGAGCCTTCTCCCTGTCCTTCTGATCTCTGACGACACCCCCAGCCAGCTCAGGGTTTTAGAGTGTTTTTCATTTTCTTTTTTTTTTTTTTTTTACAATAAAGTTTCAGGCTTTTTTACCATGCTCTTTCTTTCTATGAATGGGGGCCAAATCGGTGGAGTGATTTATATATTACTCTGTCCGATCTTGATACATAAATACCCAGCCCCATCCCTGCCCTAGAAAAGATAGACGTATATTAATTCGGAAAATAGCTCTGTTCACCTGCCCCTGCCACCCACCTGGAGCTCCTGCCCCACAAAGCTGGCCCCTGCTCCGGATGAGCCCCTGCTCCCGATGAGCCCTTGCCCAGCATCCTGGGGCGGGGAGGGCATCAGCTTCTTTTGGAAGACAATCTGGGCCCTGTCGCTCCATTGGCCTGAAGAGGAAAGTGAGCCCCTAAGTGGGCAAGGGCAGCCCTCTGGGCCCAGCCGTCAGGTCCTTCGGAAGAGGTTACTGAGAAAGCCACCGGCGGGCCCGGGGCCCAGGCGCAGCGAGAAGCGGGGCGCGGCACGGCGCGGGGTCGACGACGACGCGGAGGCGCTCAGCTCCTTCTGGCGCTGTGAGCGCAGCTGCTGCCCGATCACCACCTGCATGTCGTCCTGCGGGAGGCCGTGGTCGGCTCAGCGCCGGTCCCGCCCCTTGCCCCGCCCCGCACACGGGCCCCGCCCCTCACCTGCCAGGCCTCCAGCTCCTGCGTGAGCGCCACCTTCTGGCGGATGGCGCGCAGCAGCTCCCGAGACAGGGAGTCTCGCTCCAGCGAGACGCGGTTGAGCTGCAGGGACAGCTCCAGGGCCCTAGGCGGGCAGGAGCAGAAGACGCGTTTGAGGGCGCTAGGGCCTCAGGGAGCCGGGGTGGCGGGGGACTTCTGTACCCGGGCGGGAGGAGGGCTGCAAACACCTAGATCAAGGAGGTCAGGGGGCCCCTGGGTGGGAGTGGGGATCATTATAACCCGTATCAGAAGAGGAATCAGGAGCCCAGGAGGGCCCAGAGGGCGCTGGGGCGGTGGTCAATGGCTTGAGGCTTACTTGTTCACGGCCTCGTCCCGGTCTGAGAGGGCACTGTGCAGGGCCTCCCCAGGGTCTTCCTGCGCCCGCAGCTCCTTCTGCCTCTGCAGCTCTTCCCGCAGGGACTGCAGCTCTGCCTGCTGCAGCGAGATCTGTGAGCAGAGGAGGGGGGCCGTGCGGCAGATGGGCCAATGGGCCTCCCTGCTTCTCCCAGCAGCCCCGACTCTGGCTCTCCCCACCCCTCCTCTGCCTGCGACAGA
CAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCTGCCTGCCTTGGCTTCTCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCCGGCCAAATTTTTTTTTTTTTTTTTTTTTTGAGATGGAATTTCACTCTTGTTGCCCAAGCTGGAGTGCAGTGGCTCCATCTGGGTTCACCGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCATGCGCCACCACTCCCAGCTAATTTTGCATTTTTAGCAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGGTCCACCTGCCTTGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCCACATTTTTAAATTTTTTTTGAGACAGAGTCTCACTATGTTGCCCAGGCTGCTCTCAAACTCCTGGCCTCCCAGAGCGCTGGATTACAGGCATGAACCACCACACCCGGCTTAAGCACTGAGTGACAGCCCCATGTAAAGCTCTTGTCTATACACTAGCTCATCTAATTGTGATGGAATCTTCTGTGAGCTCCATTTGTCAGTTGAGGAAGCTGGCAGGAGAGGCCTGGGTGCTTGCTCAGAGGTCCCTGAGGCATCACCTCAACTCTCCCCTTCTTCAGTGTCTTCTTGGAGCCACCCATGGGACTGCATGGGCAGGTGCTGGCTTGGGGCGGGGCCGCCTCAAAAGAAGGCTGAGAAGTCAGGACAGTGGGAGGCCTGGCAGGTTTTGGGGGAAGCAGGGAGGAATCTGTGGATGGGAGGTTTCATACGTCCCAGGCAGGCCTCATCCAGTCTTTCCCTGCAGACAGAGGTGTTCCAGGCCTTGCAGCGGCTCCATATGACCATCTTCTCCCAGAGCGTCTCACCATGTGGGAAGTTTCTGGCGGCTGGCAACAATTACGGGCAGATTGCCATCTTCAGGTACCCTCTGCCGCTGTCCACCCATTAGCCCTGGCACTTGGCCCTCATGGGACGGATGCCCCCGTTTCTGACTCCTGGGTCCCCTCCGCTGTCCCTGCAGCTTGTCCTCTGCTTTGAGCTCAGAAGCCAAAGAGGAAAGTAAGAAGCCGGTGGTGACTTTCCAAGGTGGGTATACCTGTGGAGTCTGGCTTCAGGACTTTGGGTGGGATTGGCTCACTCAGTTCTGCATTTCTCTTTAGCCCATGATGGGCCCGTCTATAGCATGGTTTCCACCGATCGACATCTGCTTAGTGCTGGGGATGGGGAGGTGAAGGCCTGGCTTTGGGCGGAGATGCTCAAGAAGGTAAGGAGTCGAGCTTGGGAAAGGGCTGGGGTGCCTGGACCCAGAGAGAGCCTTTGAGGTCACCTGGTATTTTCTCTTTTGAAGGGCTGTAAGGAGCTGTGGCGTCGTCAGCCTCCATACAGGTGAGCAGGGCCACGTGGATAGAGGGTGCATCAGGGTGAAGCCACTTCCTCACTGACCTTGCCTTTCCTTCCCCAGGACCAGCCTGGAAGTGCCTGAGATCAACGCTTTGCTGCTGGTCCCCAAGGTCTGAGCCCCATGTGACTGTTCTTGGTCCAAACTTTGATCCTTCACCCTCTGCCTATCCTGATTTGACATTGACTTTCTGCCTCATCCTGCTCCTCCACAGGAGAATTCCCTCATCCTGGCTGGGGGAGACTGTCAGTTGCACACTATGGACCTTGAAACTGGGACTTTCACGGTGAGCAGGGTCCTGGAGCCCTAGAGCAGGTCTAGGTCAGGGAGAGGCACTCTTCCTAGGTCTCCTCCTGACATCGCCCCTCTACATGCAGAGGGTCCTCCGGGGCCACACAGACTACATCCACTGCCTGGCACTGCGGGAAAGGAGCCCAGAGGTGCTGTCAGGTGGCGAGGATGGAGCTGTTCGACTTTGGGGTAAGCAGGTGGCTGGTTGGAGGGCAAGATGGCAGTGAAGGAGGCTGAGGCAAGTGGGGCACCACTCACAGTTCTTTCCCCGCAGACCTGCGCACAGCCAAGGAGGTCCCGACGATCGAGGTCTATAAGCACGAGGTGAGGGTGTGACCGTGGCCATTGTCCTCTTCTCCCCCAACTCCTTGAATTCTCCAGGTCTTCACCTCTTTCCCTCCTCCCCTCCCCATCCCAGGAGTGCTCGAGGCCCCACAATGGGCGCTGGATTGGATGTTTGGCAACTGATTCCGACTGGATGGTGAGCTGGGCAGACTGTGGGATGGGATGGCAGCTCCGGGCCCTGTCAGCTGTGGGCCTGTGGTTCACAGCTGGGGACTCCCACCTTTCTGTCCAGGTCTGTGGAGGGGGCCCAGCCCTCACCCTCTGGCACCTCCGATCCTCCACACCCACCACCATCTTCCCCATCCGGGCGCCACAGAAGCACGTCACCTTCTACCAGGACCTGGTGAGGCCCTGTGTCTCACTTCTGCCACCCCCACTGACTCTTCCCTTCAGTCCTGACCCCTGAGCACCTTCCCTGTCCTCTGCAGATTCTGTCAGCTGGCCAGGGCCGCTGCGTCAACCAGTGGCAGCTGAGCGGGGAGCTGAAGGCCCAGGTGCCTGGCTCCTCCCCAGGGCTGCTCAGCCTCAGCCTCAACCAGCAGCCTGCCGCGCCTGAGTGCAAGGTGGGTCCGGCAGGGGCCGCGGAGCGGCTGGGAGGCAGGGGTGTGGGCAGGCCAGTCATGCCCCTCTTTCCTCCAGGTCCTGACAGCTGCAGGCAACAGCTGCCGGGTGGATGTCTTCACCAACCTGGGTTACCGAGCCTTCTCCCTGTCCTTCTGATCTCTGACGACACCCCCAGCCAGCTCAGGGTTTTAGAGTGTTTTTCATTTTCTTTTTTTTTTTTTTTTTACAATAAAGTTTCAGGCTTTTTTACCATGCTCTTTCTTTCTATGAATGGGGGCCAAATCGGTGGAGTGATTTATATATTACTCTGTCCGATCTTGATACATAAATACCCAGCCCCATCCCTGCCCTAGAAAAGATAGACGTATATTAATTCGGAAAATAGCTCTGTTCACCTGCCCCTGCCACCCACCTGGAGCTCCTGCCCCACAAAGCTGGCCCCTGCTCCGGATGAGCCCCTGCTCCCGATGAGCCCTTGCCCAGCATCCTGGGGCGGGGAGGGCATCAGCTTCTTTTGGAAGACAATCTGGGCCCTGTCGCTCCATTGGCCTGAAGAGGAAAGTGAGCCCCTAAGTGGGCAAGGGCAGCCCTCTGGGCCCAGCCGTCAGGTCCTTCGGAAGAGGTTACTGAGAAAGCCACCGGCGGGCCCGGGGCCCAGGCGCAGCGAGAAGCGGGGCGCGGCACGGCGCGGGGTCGACGACGACGCGGAGGCGCTCAGCTCCTTCTGGCGCTGTGAGCGCAGCTGCTGCCCGATCACCACCTGCATGTCGTCCTGCGGGAGGCCGTGGTCGGCTCAGCGCCGGTCCCGCCCCTTGCCCCGCCCCGCACACGGGCCCCGCCCCTCACCTGCCAGGCCTCCAGCTCCTGCGTGAGCGCCACCTTCTGGCGGATGGCGCGCAGCAGCTCCCGAGACAGGGAGTCTCGCTCCAGCGAGACGCGGTTGAGCTGCAGGGACAGCTCCAGGGCCCTAGGCGGGCAGGAGCAGAAGACGCGTTTGAGGGCGCTAGGGCCTCAGGGAGCCGGGGTGGCGGGGGACTTCTGTACCCGGGCGGGAGGAGGGCTGCAAACACCTAGATCAAGGAGGTCAGGGGGCCCCTGGGTGGGAGTGGGGATCATTATAACCCGTATCAGAAGAGGAATCAGGAGCCCAGGAGGGCCCAGAGGGCGCTGGGGCGGTGGTCAATGGCTTGAGGCTTACTTGTTCACGGCCTCGTCCCGGTCTGAGAGGGCACTGTGCAGGGCCTCCCCAGGGTCTTCCTGCGCCCGCAGCTCCTTCTGCCTCTGCAGCTCTTCCCGCAGGGACTGCAGCTCTGCCTGCTGCAGCGAGATCTGTGAGCAGAGGAGGGGGGCCGTGCGGCAGATGGGCCAATGGGCCTCCCTGCTTCTCCCAGCAGCCCCGACTCTGGCTCTCCCCACCCCTCCTCTGCCTGCGACAGA
Task1_train_22246
This genomic variant is located on Chromosome 16, within the LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Acute febrile neutrophilic dermatosis
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTGATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
Task1_train_22247
The gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Familial Mediterranean fever
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTGATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
Task1_train_22248
An alteration has been detected in LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Familial Mediterranean fever, autosomal dominant
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTGATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
Task1_train_22249
The following genetic variant occurs in LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Inborn genetic diseases
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTGATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
Task1_train_22250
Given this variant in gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Autoinflammatory syndrome
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTGATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
Task1_train_22251
A mutation on Chromosome 16 affecting LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Familial Mediterranean fever
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTGATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
Task1_train_22252
Chromosome 16 houses a mutation in gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Familial Mediterranean fever, autosomal dominant
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTGATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
Task1_train_22253
This variant affects the gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; See cases
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTGATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
Task1_train_22254
This variant lies on Chromosome 16 and affects the gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Acute febrile neutrophilic dermatosis
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTGATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
Task1_train_22255
This variant lies on Chromosome 16 and affects the gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Familial Mediterranean fever
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTTATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
Task1_train_22256
This alteration occurs within gene LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
Pathogenic; Autoinflammatory syndrome
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTTATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
Task1_train_22257
A mutation on Chromosome 16 affecting LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Familial Mediterranean fever, autosomal dominant
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTTATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
Task1_train_22258
A mutation on Chromosome 16 affecting LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Acute febrile neutrophilic dermatosis
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTTATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
Task1_train_22259
A variant has been detected on Chromosome 16 in LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Familial Mediterranean fever
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTTATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
Task1_train_22260
Here is a genetic alteration in LOC126862264, MEFV (CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521| MEFV innate immunity regulator, pyrin) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Familial Mediterranean fever, autosomal dominant
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTCATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
AATAAAACTCGTGGAGGAAAGCCCAGCAAGTTTACCTGCTCTCATCATAGCCATGGAGTATCTGAGTCTAATCTACACTCTAGTAGTGAAGACAGAGGAGTTGGCATAGGAGTTTGGAATTTAATCTTCATTTGATTTTTTTCTTCTTACATCCACTTTTTGGAGACAGGGACTCACTCTGTTGCCCAGGCTGGATTGCCGTAGTGCAGTCTCAGTTCACTGCTGCAGCCTCGATCTCCTGCGCTCAAGCCATCCTCCCACCCCCATCCCTATGGCTAATTTTTGTATTTTTTGTAGAGACGGGTTTTCGCCACATTGCCCAGCTGGTCTCAATCCCTGGGCTCAGGCGATCCACCCGCCTTTGCCTCCCAAAATGCTGAGATTACAGATGTGAGTCACCATGCCCGGCCCCTTTACATCTCTTTAAATGAAGGACAAATGCACGGGATGTGTGTGAAGTAGAACCTAATATTCCACAACCCGCAGATTTTCCCATACAAACCAAGACAGAATAATCTGACACTTGGAATACATGCCAAATGTTTTTCCATACAGTAGTCCCATCTGCTTCCTGAAATGCAGTCGGGAAATGGGATTCCACAGTGATTGAGTGACAAATGCAAATGACCAGATTTTCTAATTTTTTTATTCATGAGGCCCAGTCAATTCTCTTAAGAATCATGGCCCGGCATGGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAGGTGGGTGCATCACCTGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATGATGAAACCTCATGTCTACTAAAAATGCAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTTCGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAAAAAAGAATCATAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAGAAAACCAGCCTGGTGTGGTGGCACGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGATTTGGTCTCAAAAAAAAAAAAAAAAAATCATAGTTCATTAATCCAGGTACACAAATACTTCTATCCCAATCCAGTCTGCTTGCGTTTCTCTAGGCTTCCCATATCCTCAAGACAGAAGCAGAGAGAACAAGGGGACATATATCCTTGCCGTGGGGTTCTGAGGGAAAATGAGGGCCAAATCTTCTGTTCAGGAGCACCTGAGAGTGCCACCCACCAGGGGCGGATTATGCAACGACTCCGTACTTCCTCCTCTGAAATCCATGGTGTGTCATCAGTACATGTCTTCACCCGGATTGACTAACATGTTCGTTCCTAACTTACCTCTGCTATAATCGGGTAGGCTCCGTGGGCACAGTAACTATTTTGTTATTTTTGCATTTCCCATAGCAGCTAGCACCTAGTCGGCATTCCGTGACTATTGAGTGTGAATGCAAGATACAAGGCCAGAAGCAGGAAGAGAGATGCAGTGTTGGGCATTCAGTCAGGCCCCTGACCACCCACTGGACAGATAGTCAGAGGAGCTGTGTTCTTCCCTCCATCACGTGTCCCAGGGCTGAAGATAGGTTGAAGGGGCCCAGAGAAAGAGCAGCTGGCGAATGTATAGATGTGGGATCTGGCTGTCACATTGTAAAAGGAGATGCTTCCAACTCTGTAGTCCACGAAGATGCCCACACGCTTGGGAGGCTCCTTTATTAGCAGGCGGGTCGGGGGAACGCTGGACGCCTGGTACTCATTTTCCTTCATCATTATCACCACCCAGTAGCCATTCTCTGGCGACAGAGTTATGTTCCCTTTCCTGCTTATGGATGTCTTGCAGGCTCCCAGGATCCATGCTGTCTTGTCTCCAACCTCCACCTCCCAGTAACGGCGGCCAGAGAGGAAACTCGGAGAGCCCAGAACAATGATACAGCTGTCAAATCTTTGCGGGCCATCAGGCAGCCTCTCCCACTTGTTTCCAAGTCTAACACTCTTCAGATCATCAGAGAAGATGAGGTTGGGGTAAGCGGTTTCTGCATCCAGAATCACATTAACTGCAAAGAAAATTTGAATACCTAGGTAGGGGTCCATGGGCAACATCCCTACAGGGTTCTCCCCACCTGCAGGAAACAGGGACAGGGTAGTTCTTCTGGAACGTGGTAGGGGAGAGCACAGGGATCCAGCAGGCCAGGGCCACTTGCCTTGATCTGGGCACTTACCAGCATGTGCCTGAGCGCCAATCAGCTCCGGAACTACGGAGAAAAATCAGATAGGGAAAAAAATCCTGAGCATTAGCATTAAGAGGGGCTAAATTACACTGTCCTGACAACAAGGAAAGACAAGGAACCCCCTGCTTAGGGCCCTGCATGCTATGTTGGGTATAATCCCGTTCCTCCCAGGAACCCAGGCCATGTTGGGGACTGTGGTCTAATGAGTCAACTCAGTCAATGAGTCACGCACAGAGCCTGGGGGGCCTGCCATGACCTTTCTCCTACCTTTGCTCCAGGTGTTTGGTTTTTTTTTTTGTCTTCTAAATAGGGCCCCTCAAGTCAACAGCACAAGGGAACACTGCAACAACCCCAGGCCAGCACACACCATTACCGCTGGACTCACCATTGAACATTTCCATTTCTGAACGCAGGGTTTCTAAAATGTGGGAAAGGGAGCAGAGAGAAGCTGGAGTTAGGTCCCTCAGCCAGGGACAGATGGAGGAGAGGTTGAAGGCAGGTCAGCAAGACCAGGGGAAGAGGAGGGAAGTGAGGGGCTCTGGGCTATGTGGATCTTAGGGAGGAAGTGAGCATGCACCTCCAATCTTCTCCCAAGCCCATCTACCTGAGAAGTACTTTGTGCTCTTCTCCACAAACTCTGACTTCTGGTGGAGGAGTTGGATCTTTTGTTTTATCTCTTGAGGAGTGGTCCACTTTTCAGGGACAGGCACTGTCTTAGCCCTAGAGACAAAAGACTGTTGACCAGAGAAGGCCGGAGCGAGGGGGTGGCCCAAGTACCCGTGAGCTGGAAATGAACTACATTCTCCACAGGGCACACCTAGCCCAGCCTGAGCTACACAAAGAAAAGTCTTCCCTGGATTCAGAGGTCTAAATGCTGGTCCTCAACTTTGGCCACAGACTGTCATGTACTGGGGTGCTTTAAAGACATGGATATCAAAACCACAAGGAGTTTTCAGAATGGACTTAAAATGACATTGATATTATCTACTAGAATTATCTATGTCAAATTGATTATACACCCCTTTCTTTCTATTGAAATAAAAAGATAATAAATGAAAAAAAAACACACACAACAAAATATCCCTTCACATCCATTAGAATGGCTATTATAAAAACAGCAACAACAGAAAAAAATAGACCAGGTATGGTGGCTCATGCCTGTAATCCTAGCACTTCAGGAGGCCGGGGCAGTGGGATCGCTTGAGCCCAGGAGTTCAAGTCCAGCTTGGGCAACATGGCGAAACCCTGTCTCTATTAAAAATACAAAAAAGTAGCCGGAAGTGGTAGCACATGCCTGTAGTCCCAGCTACTCAGGATGCCAGCTACTCAGAATCACCCGAGCCCAGGAAGCTGAGCCTGCAGTGAGCTGTGACTGTGCCACTGCTCTCCAGCCTTAGTGATGGGAGTGAGACCTTGTCTCAAGAAGAAAAGAAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAAAGAGAAATGGCTGGGCACGGTGGCTCACGCCTGCAATCCCAGCGCTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAATATGGTGAAACCCTGTCTACCAAAAAAATTAGCTGGGC
Task1_train_22261
Consider a variant on Chromosome 16 in gene MEFV (MEFV innate immunity regulator, pyrin). Determine its clinical classification and disease relevance.
Pathogenic; Acute febrile neutrophilic dermatosis
TGAGACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGGCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCT
TGAGACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTTAAGGCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCT
Task1_train_22262
This variant lies on Chromosome 16 and affects the gene MEFV (MEFV innate immunity regulator, pyrin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Familial Mediterranean fever, autosomal dominant
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGGCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGTCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
Task1_train_22263
The gene MEFV (MEFV innate immunity regulator, pyrin) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Familial Mediterranean fever
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGGCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGTCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
Task1_train_22264
Here is a genetic alteration in MEFV (MEFV innate immunity regulator, pyrin) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Familial Mediterranean fever, autosomal dominant
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGGCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGTCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
Task1_train_22265
Here is a genetic alteration in MEFV (MEFV innate immunity regulator, pyrin) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Acute febrile neutrophilic dermatosis
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGGCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGTCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
Task1_train_22266
This alteration occurs within gene MEFV (MEFV innate immunity regulator, pyrin) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
Pathogenic; Neuronal ceroid lipofuscinosis
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGGCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
ACAGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCTCGGTTCAAGCAATTCTCCTGCCTCGAAGCCTTCTGAGTAGCTGGGATTATGGACACCCGCCACCACGCCCAGCAAATTTAGTATTTTTAGTAGAGATGGCGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCCGCCCCCATTGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCGCACCCGGCCTGGACCCCCAATTCTATTTCTCCTCCTTGAGTGCTGTGATTTCTCCTCTCCAGCCAACAATGCATTGGAAAGTGTGTTCCATAGGCTGGGTGTAGTGACTCACACCTGAAATCCTAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGTCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCAC
Task1_train_22267
This is a variant in MEFV (MEFV innate immunity regulator, pyrin), located on Chromosome 16. Is this mutation a likely cause of disease or not?
Pathogenic; Behcet disease
TAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGGCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCCCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCACGGCGTACTCTTCCCCATAGTAGGTGACCAGCAGAGTGGCCATCTTCACCGGCCTGGCTCTCTGGATCTGGCTCCGGGGGATCCTGGAGTGCTCCTTCTGCACACTGGTGTTCTGCAGCTTGAACTTGAACTTCTCGAAGTCATAGGGCACCAGCTCCTCCAGGGTGGACAGCAGATGGTCACTAGGGGTCTTAGCCATGGTGCTGAGCAGGAGAGGCTCGAGCCAGCTGTCTGGCTTCTGGTAGGAAAAGAAGCCTCTGTCCTTGGTGAGCAAGAAAAGGCAGGTTGTGAAATAGCGGAAAAGGCACAGGAAATGCTCTGTGTCTTGGTGGGAACTGAGACTAAGGGTAAGGGTGTGTCCATGCCGGCTGTGTTCTCTTCTTACAGGTTCAGAG
TAGCACTTTTAGAGGCTAAGGCGGGGGATCGCTTGAGCCCAAGAGTTCAAAACCAGCCTGGGCAACATAGACAGTCCTCGTAACTACAAAAAATACAAAAAAAAAAAAAAAAATTAACCAGGTGTGGTGGTGAGCACCTATAGTCTCAGCTACTTGGAAGGCTGAGGTGGGAGGATCGCTTGAGCCTAGGAGGTTGAGGCTGCAGTAAACTGTGCTCACACTACTGCACTCCAGCATGGGAGACAGACTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGTGTGTTTCTGAATGCTGCCCCCACCACGAGCATGGAATTGTCACCTGGATAGCCTCGGTACCCTCTAAACTGGTGGCATTTTTCTTTTACAGTTTTTTTTTAGTCTCTTTACCTATAGGGACAGCTGCTTAAAAAAATCCAGATGGCCTGGAGCCTCCTGATCCCTTGCCAAAAACCAGAGGAAGTTAAGATCAGAGCAAAACCAGTGCAAACTGGAAGAGGTGACTTCCAGTTACCTTAAGATCATTTACACATTGTTATAAGGCTAAAGGTCCCTCCCCTAAAAGAAGATGGCCAGGGTTTTGTGTCCATGCGATGTAGGAAGAAGCATGCTGGGGACAGCGCCTGCACATATGGAACCCTGCCCTGGGCCTGCTTACCTATCTCCCTTCCCCTCCCTGGACTCTAAAATCGCCCTGCCTCCCATCCCTGGCAAGCAGACGCCTGCAGAGGTGAGCTCCCCTTCTCCATTCTTTGGCCACTGATAACACCTGATTGCCTTTTTCAATCGGACATTCTTTCTTTCTTTTTTTTTCCCCCCAAAATGTTTAAGAGACAGGGTCTTGCTCTGTTGCCCAGGCCGGAGTGCAGTGGCACATCCTCAGCTCACTGCAGCCTGGAACTCCCTGGCTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTGGCTAGAATTACAGGCGTGTGCCACCATACCCAGCTAATTTTTTTTTTAGTTTTGTAGAAGTGGAGTCTGGCTACGTTGCTCAGGCTGGTGTGCAGTGGCATGATCTCAGCTCACTGTAGCCTGGAACTCCGTCTGCTCAAGTGAACCCGAGCAGCTGGGACTACAGGCGCGTGCCACTATTGTATTTTGTAGAGATGGGGTCTCACTGTGTTGCCTAGGCTAGTATGGAACTCCTGGGGTCAAGAGATCCTCCCGTGCAGGCCTCTCAAAGCTCTGGGATTACAGGCGAGAGCTACCACGCCCTGCCCAACCTTTGGGTTTTTATTTTTTTAATTTCGTTTATAGAGATGGCGGGGGTCTCACTACATTCACCAGGCTGGTCTCAAAGTCTTGGCCTCCAGCAATCCTCCCGCCCTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCTATCGTGCCCGGCCAGCCATTCTTTCTCTGCAGCCGATATAAAGTAGGAAAGAACACAATTTACCGGTGACCGAATGTTCTGGATTTCCAGGGCCTTCCTTCAGGTCCGCAGATGCCCCTCCATCCGGAGTGGGCCTTGCCCGGGGTTCTGTTGCCGAGTCCAGATTCGCAGCTGTCTTTTCCTCTAGAGTCAGGAGAATTTCTGGATTTGCGGGCGCCTTCTCCCCTGTAGAAATGGTGACCTCAAGGCTTCTAGGTCGCATCTTTCCCGAGGGCAGGTACACTTCGAAGGGCCTGCACTCCTTCTGCCCCGGGGCGCCCCCCGCCAGCCCCTGCAGCCTCCCCGCGGAGCTGGCGTTTCTGCGCAGCCGGACCTCGGCCTGGCCCCCCTCTAGCGCCCTGCAGGGGCCGGGGCTTCTCCCGCCCGGCAGGGCCGGGCTCCGGGTCCGAGGCTTGCCCTGCGCGTCCAGGCCCTCCGAGGCCTTCTCTCTGCGTTTGCTCAGGGGCTTCCTCGACAGCCCCCTCCCGGCCTCGGGCTGGCTGCACCGCAGGCTGGCAGCTCCGCCCCCGTACGGCCGAGGGCCGTTCCCCTCGTTCCCCTCGGGGTGGTCTGGAGTCTTCAGGCTCCTGGGCTTGTTCTCCTCCAGGGAGCTGGACGCTGCGGAATCATCTGTGCCGTTTTCTTGTGTGGAATATTCTGGAAGGACAACCAGATGCAAAATGATGAAGCTGTCCCACGTTTAGGGCCCAAGATTCAGGGCAGAGGAGAGAGAATCCCCTTGGATATTAAAGTTTAGAAATTGAGGAAAACAACGGGCCGGGCGCGGTGGCTCATGCCTGTATTCCCGGCACTCTGGGAGGCCGAGGCGGGAGGATCACCTGAGATCAGGAGTTCAAGACCAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAATAAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTTCTCCAGAGGCCAAGGTGGGAGGATCATTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTTCCTACTAAAAATAAGAAACTCAGCCAGACGCGGTGGTGCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCGCTTGAGCCCGGGATGTGGAGGTTGCAGTGAGCTGAGATCGGGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCATCTCAAAAACAAAAGTTCAGGACTTCCTAGACTAGACAATGGCAGTCAATTACCATTCAGTAAGAACATGCTTGATGTTGCTATGTATTTCTCTCTCTCTTATTTTATTTTTTGAGACAGGATCTTGCTCTGTTGCCCTGATGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCAATCCTCTCACCTCAGCCTGTTTTCTGTTTTTTCAATAGCTGAAAATACAGGTGTGTGCTACCACGCCTGGCTCATTTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAAGCTGGTCTCAAACTCCTGAGCTCTAGCAATCCACCCACCTTAGCCTCCCAAAGTGCTGAGATTATTTATAAGTGTGAGCCACCATGCCTAGCCTATATTTCTCAAATAGTACTTTTCAAACGTTTTAAGCAGGACAACTGTTTCAAATAAGATCTTACACAGGTCAGCAAAACCCAGATTATACGCTTTAAAAATAAAAATAAGCCGGGCACGGTGGCCTATGTCTGAAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAACAGCACTGAGAAGATTCTATACCAACCCCGTTCATATGATTGCATAGCAATCCCTTTTTGCTAACCTAGAGATGTTTGTCTGACATGAGTATTAATCATAAATGTAGTGAAGAAGTCTCAAAGAACAGGTGTTCCAGCTCCTGCCTTTCGTGACCCTGACCTGCTTCTTAAAAAACCCATTAGGAGCCTGAAGGAAGTTTACTAACCCAGTTCCAAAGGCCAGAGTGAAGAAAGGGACGTTCCTGAACTAAAGTCATCTGGATTTTGGTAGACCTGAGACTCCCAATCCCCAGGTCAGAGTGAGCTGCTCTGAGCTCCTGGTCCCCTTTCCCACAAAGCAGCCAGCACTCAGCACTGGATGAGGAGGAGGCCTGGGCCCGCTTACCCTGAATGGCTGCCCTGTGGAGCTCCTCGGCCAGCAGGCGCTGGTTGATGGCCCGCAGGACCTGCAGGGTGAGCTGCACGGCGTACTCTTCCCCATAGTAGGTGACCAGCAGAGTGGCCATCTTCACCGGCCTGGCTCTCTGGATCTGGCTCCGGGGGATCCTGGAGTGCTCCTTCTGCACACTGGTGTTCTGCAGCTTGAACTTGAACTTCTCGAAGTCATAGGGCACCAGCTCCTCCAGGGTGGACAGCAGATGGTCACTAGGGGTCTTAGCCATGGTGCTGAGCAGGAGAGGCTCGAGCCAGCTGTCTGGCTTCTGGTAGGAAAAGAAGCCTCTGTCCTTGGTGAGCAAGAAAAGGCAGGTTGTGAAATAGCGGAAAAGGCACAGGAAATGCTCTGTGTCTTGGTGGGAACTGAGACTAAGGGTAAGGGTGTGTCCATGCCGGCTGTGTTCTCTTCTTACAGGTTCAGAG
Task1_train_22268
This genomic variant is located on Chromosome 16, within the CLUAP1 (clusterin associated protein 1) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Leber congenital amaurosis
TCCTTGACACATTCCACTTTTAAAGCATCAATTCATTTTTGTTAAGCTCCAAATCATTTTAACAGAAAAGTCTCTTTGTTTTGCTCTAGTTCAAAAGATTATAATTATTTCTGAGTTTATCTGCTTATATTTTTAAAAGAGTAGAATTTTCCCTTTAAGGTCAATAATAAGAAAAAAGAAAAAGTTCAGCAAACCAGTATAGATTTTTATGGTTTTTTTTGTTTTTGTTTTTTTTTTTTGAGTTGGAGTTTCGCTCTTGTTGCCGAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAAACTCTGCCTCCCGGATTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGGCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCATCATCACGCCTGGCCTTTTTAAAAAATTTTTTATCGTTTAAAAACCTCTTTAGACTGGGCACAGTGATTCACGTCTATAATCCCAGCACTTTGAGAGGCCAAGGCGGGCAGATCGCTTGAACTCAGGGGTTCAAGACCAGCCTGGGCAATATGGCGAAACCCCATCTCTACAAAAAAAAAATATAAAAAATAGCTGGGCATAGTGGCACATGTCTGTAGTCCCAGCTACTTGGGGGCCTGAGACAGGAGGATCACCTGAGCCCAGGCGTTCGATGCTGCAGTAAGCCATGATCACACCACTGCACTGTAGCCTGGGTGACAAAGTGAGACCCTGTCTCAACAAACAAAAAAAAACCACCAGCCTTAATTCGTAACAACCTGTGGTCCCCTTTTTAGAGGATTGCTTTAAATTTATAATATCCTGACAGTAGAACATTATTATTATTATTATTATTTCTTTTGAGATGGAGTCTCTCTGTGTTGCCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCACCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGTTGATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACCGCACCCGGCCAACAGTAGAACATTATACCCAAATAAGATAATAATATATATATTTATTGATTTGGAGAGATGTGTCTGGTATGTGATTTTTTTGCCTTTAGAGATGGGGTCTCAATGTGTCACCCAGGCTGGAGGGCTGGAGTGCCACGGCAAGGTCAGAGGATCCTCACTCACTGCAGCCTTGAACTCCAGGGCTCAATCCTCCTCCTACTTCAGCCTCCCAAAGTGCTAGGGTTACAGGTGTGAGCCGATGCACCCAGCCTGATCATTTTTAACTCTATTGAGATTACGGTATATTGAAATGAAATAAAGATTATAAAATTTCTTGGTATATTTAATTTTTTTTTTAAATGCATTCCTATCTATATTTATGCATAGAAAAGTCTGGAAGGATGTATGTCAACTATCAAGCGCTTATACCTGGTGATGGGATTATCAGTAATTTTTACGTCATTCTTCATACTTTCAGGATTATTTCAAGTTTTTACAAAGAGCACATCTTATTTATGATGAAAAAGAAGTATGTTCATTTTGGGGGGAGAAAGCAGAAAAGGGAAAATATTTTTAAGCATTACAAGAATGAAGGACCTTCTCTAATTAAGGGTTTCCAGAGAAAGCCACCATGGAATCTGAAACTGTGAATACCCATTTCAAACTACTGCATATAATTCACCTTTCCTTTTTATTTCATTTGCTTCTTTTAGGCCATGTTTTATGGATGAGTATGAGAAGACTGAGGAAGAATTACAAAAGCAGTATGACACTTATCTGGAGAAATTTCAAAATCTGACTTATCTGGAACAACAGCTTGAAGACCATCATAGGATGGAGCAAGAAAGGTTTGAGGTGAGCTGAGCCTGTCCTCTGTTCAGCCATTCCTTCTGGTGTGTTATTTTGTACTGGGTGACAGGTCATTTTGTTAATATCATTGTGAAAAAAATATCAGTACATGTTTTTTCTCCCTGGTCAGTCTGAGGATTGCTCATGTAATGTGTTTGTTTTGCTGGCAGTGTACACTGGACTCCAGGGTTGTCAAATCTTTGATGTCATATTTCATCAGGTTTGGTCAGTTAAGAGAACAGACAGGGCCGACATGAGGCCTGTGTGGCTGCGTAAGACCCTGTGCCGACATGGGGCCTGTGCTTGCTTTCAGGCCCTGTTGTCACTGTCTTGAAATTCATAATAATTTTTAAGTGCATTTTATTTTCCACTGATCCCAAAAATTATGTAGCTGGTCTCGAGTGCAGATTTAAAAGCTTGCTTGGCTTTGGGAGGCCAAGACGAGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTCCTCTCATAAAAATACAAAAAATTAGCCGGGTGTGGTCGTACACACCTGTAGTCCCAGCTACTCGGCAGGCTGAGACAGGAGAATCGTTTGAACATGGGAGGAAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGACAACAGAGCAAGATCCCATCTCCAAAAATAAGAAAATAAAGCTTGCTTAGTCAGTTCACATAAAGATTTTCAAGGCAAGGTGCGATGGCTTATACTTGTAATCCCAGCACTTTGGGAGGCTTAGGCAGGAGGATCACTGGAGCCCAGGAGTCTGAGACCAGTTTGGGCAGCATAATGAGACCCTGTCTCTACAAAGAAGTAAAAATAAATTAGCTGGACATGGTGTTACACACCTGTTGTCTCAGCTACTTGGGAGGCTGAGATGGAAGGATTGCTTGAGCCTGGGAGTTTGAAGTTGGAGTGAGCCATGATCATGCCACTGCACTCCAGCTCGGTTGACAGAGCAAGACCCTGTCTCAAAAAGAAAAAAAAAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCACAGCTGGTGGACCACGAGGTCAGGAGTTTGAAATCAGCTTGTCCAACATGGTGAAACCCCGTCTACTAAAAATACAAAATTTATCTGGTATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGAGCAAGACACCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGATTTTCAAGTCCTGGTTAATTGAATCACCAGAATAGCTCATTGGAGATTGTTTTGTAAAGAGGAATGGCAGTTTATTTATTGATTGTGGGAAATAAATGTGTGGCCTTGAGCCTGACCAACCATCTTACAGGTTCCTCTCATCCCTGTGGGTAAGGCCATTTAGGAAAAGAGTGTTTTAGACCCGAGCATGAGTTGATAAATGTGGAATTTAGAGCAAAGGAAATTGAACCAAGTTGTGATCAGTTTTTGAATTGCCCTATCCTTAACCTGAGAATGGTCATTTAGACTCCATTTTCATGATGAAATTGGTCTGCAGTCTCCCTTTCTCATGCCCTTGACAGCTTTTGGTATTAAGGTTATGCTAGGCTTCTTACAATACTGAGCATTTGAGTTTGGCAGAGCTATTTTGTTGTCCAGGAGGGCTAACTGGGAGTACCTAACGCATCCGTGTGGACACATGTCATCTTGACGAGGAATTCATTGCTAGCATTACTCTGTGGCAGAGGCAGGCCATGGAGAAATGGTACGGGACAGGCACATTTCGAGGGCACTAGAAAGAGCTTGGAGTTTAGAACATTTTAAACATTGGGTACCTGGGAAAGAACAGTCAAGGGCAGTGAAAAGAAACGTTGGCCATTTTTTTGTATTATCTGGGGCCACCTCTGGGTTCAGAGAACAA
TCCTTGACACATTCCACTTTTAAAGCATCAATTCATTTTTGTTAAGCTCCAAATCATTTTAACAGAAAAGTCTCTTTGTTTTGCTCTAGTTCAAAAGATTATAATTATTTCTGAGTTTATCTGCTTATATTTTTAAAAGAGTAGAATTTTCCCTTTAAGGTCAATAATAAGAAAAAAGAAAAAGTTCAGCAAACCAGTATAGATTTTTATGGTTTTTTTTGTTTTTGTTTTTTTTTTTTGAGTTGGAGTTTCGCTCTTGTTGCCGAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAAACTCTGCCTCCCGGATTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCGGCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCATCATCACGCCTGGCCTTTTTAAAAAATTTTTTATCGTTTAAAAACCTCTTTAGACTGGGCACAGTGATTCACGTCTATAATCCCAGCACTTTGAGAGGCCAAGGCGGGCAGATCGCTTGAACTCAGGGGTTCAAGACCAGCCTGGGCAATATGGCGAAACCCCATCTCTACAAAAAAAAAATATAAAAAATAGCTGGGCATAGTGGCACATGTCTGTAGTCCCAGCTACTTGGGGGCCTGAGACAGGAGGATCACCTGAGCCCAGGCGTTCGATGCTGCAGTAAGCCATGATCACACCACTGCACTGTAGCCTGGGTGACAAAGTGAGACCCTGTCTCAACAAACAAAAAAAAACCACCAGCCTTAATTCGTAACAACCTGTGGTCCCCTTTTTAGAGGATTGCTTTAAATTTATAATATCCTGACAGTAGAACATTATTATTATTATTATTATTTCTTTTGAGATGGAGTCTCTCTGTGTTGCCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCACCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGGCTAATGTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGTTGATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACCGCACCCGGCCAACAGTAGAACATTATACCCAAATAAGATAATAATATATATATTTATTGATTTGGAGAGATGTGTCTGGTATGTGATTTTTTTGCCTTTAGAGATGGGGTCTCAATGTGTCACCCAGGCTGGAGGGCTGGAGTGCCACGGCAAGGTCAGAGGATCCTCACTCACTGCAGCCTTGAACTCCAGGGCTCAATCCTCCTCCTACTTCAGCCTCCCAAAGTGCTAGGGTTACAGGTGTGAGCCGATGCACCCAGCCTGATCATTTTTAACTCTATTGAGATTACGGTATATTGAAATGAAATAAAGATTATAAAATTTCTTGGTATATTTAATTTTTTTTTTAAATGCATTCCTATCTATATTTATGCATAGAAAAGTCTGGAAGGATGTATGTCAACTATCAAGCGCTTATACCTGGTGATGGGATTATCAGTAATTTTTACGTCATTCTTCATACTTTCAGGATTATTTCAAGTTTTTACAAAGAGCACATCTTATTTATGATGAAAAAGAAGTATGTTCATTTTGGGGGGAGAAAGCAGAAAAGGGAAAATATTTTTAAGCATTACAAGAATGAAGGACCTTCTCTAATTAAGGGTTTCCAGAGAAAGCCACCATGGAATCTGAAACTGTGAATACCCATTTCAAACTACTGCATATAATTCACCTTTCCTTTTTATTTCATTTGCTTCTTTTAGGCCATGTTTTATGGATGAGTATGAGAAGACTGAGGAAGAATTACAAAAGCAGTATGACACTTATCTGGAGAAATTTCAAAATCTGACTTATCTGGAACAACAGTTTGAAGACCATCATAGGATGGAGCAAGAAAGGTTTGAGGTGAGCTGAGCCTGTCCTCTGTTCAGCCATTCCTTCTGGTGTGTTATTTTGTACTGGGTGACAGGTCATTTTGTTAATATCATTGTGAAAAAAATATCAGTACATGTTTTTTCTCCCTGGTCAGTCTGAGGATTGCTCATGTAATGTGTTTGTTTTGCTGGCAGTGTACACTGGACTCCAGGGTTGTCAAATCTTTGATGTCATATTTCATCAGGTTTGGTCAGTTAAGAGAACAGACAGGGCCGACATGAGGCCTGTGTGGCTGCGTAAGACCCTGTGCCGACATGGGGCCTGTGCTTGCTTTCAGGCCCTGTTGTCACTGTCTTGAAATTCATAATAATTTTTAAGTGCATTTTATTTTCCACTGATCCCAAAAATTATGTAGCTGGTCTCGAGTGCAGATTTAAAAGCTTGCTTGGCTTTGGGAGGCCAAGACGAGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTCCTCTCATAAAAATACAAAAAATTAGCCGGGTGTGGTCGTACACACCTGTAGTCCCAGCTACTCGGCAGGCTGAGACAGGAGAATCGTTTGAACATGGGAGGAAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGACAACAGAGCAAGATCCCATCTCCAAAAATAAGAAAATAAAGCTTGCTTAGTCAGTTCACATAAAGATTTTCAAGGCAAGGTGCGATGGCTTATACTTGTAATCCCAGCACTTTGGGAGGCTTAGGCAGGAGGATCACTGGAGCCCAGGAGTCTGAGACCAGTTTGGGCAGCATAATGAGACCCTGTCTCTACAAAGAAGTAAAAATAAATTAGCTGGACATGGTGTTACACACCTGTTGTCTCAGCTACTTGGGAGGCTGAGATGGAAGGATTGCTTGAGCCTGGGAGTTTGAAGTTGGAGTGAGCCATGATCATGCCACTGCACTCCAGCTCGGTTGACAGAGCAAGACCCTGTCTCAAAAAGAAAAAAAAAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCACAGCTGGTGGACCACGAGGTCAGGAGTTTGAAATCAGCTTGTCCAACATGGTGAAACCCCGTCTACTAAAAATACAAAATTTATCTGGTATGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCTAGCCTGGGCGACAGAGCAAGACACCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGATTTTCAAGTCCTGGTTAATTGAATCACCAGAATAGCTCATTGGAGATTGTTTTGTAAAGAGGAATGGCAGTTTATTTATTGATTGTGGGAAATAAATGTGTGGCCTTGAGCCTGACCAACCATCTTACAGGTTCCTCTCATCCCTGTGGGTAAGGCCATTTAGGAAAAGAGTGTTTTAGACCCGAGCATGAGTTGATAAATGTGGAATTTAGAGCAAAGGAAATTGAACCAAGTTGTGATCAGTTTTTGAATTGCCCTATCCTTAACCTGAGAATGGTCATTTAGACTCCATTTTCATGATGAAATTGGTCTGCAGTCTCCCTTTCTCATGCCCTTGACAGCTTTTGGTATTAAGGTTATGCTAGGCTTCTTACAATACTGAGCATTTGAGTTTGGCAGAGCTATTTTGTTGTCCAGGAGGGCTAACTGGGAGTACCTAACGCATCCGTGTGGACACATGTCATCTTGACGAGGAATTCATTGCTAGCATTACTCTGTGGCAGAGGCAGGCCATGGAGAAATGGTACGGGACAGGCACATTTCGAGGGCACTAGAAAGAGCTTGGAGTTTAGAACATTTTAAACATTGGGTACCTGGGAAAGAACAGTCAAGGGCAGTGAAAAGAAACGTTGGCCATTTTTTTGTATTATCTGGGGCCACCTCTGGGTTCAGAGAACAA
Task1_train_22269
A variant on Chromosome 16 in gene CREBBP (CREB binding protein) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Menke-Hennekam syndrome
AAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCT
AAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCACCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCT
Task1_train_22270
Assess the clinical impact of this variant on gene CREBBP (CREB binding protein), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; See cases
AAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCT
AAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCACCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCT
Task1_train_22271
An alteration has been detected in CREBBP (CREB binding protein) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Menke-Hennekam syndrome 1
AAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCT
AAAAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCACCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCT
Task1_train_22272
The gene CREBBP (CREB binding protein), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
AAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTT
AAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCAGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTT
Task1_train_22273
A variant affecting Chromosome 16, within the gene CREBBP (CREB binding protein), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Rubinstein-Taybi syndrome
AAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTT
AAAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCTGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTT
Task1_train_22274
Gene CREBBP (CREB binding protein) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; not provided
AAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTA
AAAGGCATGAGTCACCAGCAATGACGACAAAAAGAATCCAAACAAAACCCCCCTCCCCCCAAACAAAAACAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCAGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTA
Task1_train_22275
A mutation in CREBBP (CREB binding protein), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; not provided
AACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGC
AACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGTATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGC
Task1_train_22276
A mutation in CREBBP (CREB binding protein), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; not provided
AAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTG
AAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCCTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTG
Task1_train_22277
This mutation is located in gene CREBBP (CREB binding protein) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Inborn genetic diseases
ATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCT
ATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCTTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCT
Task1_train_22278
A variant has been detected on Chromosome 16 in CREBBP (CREB binding protein). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Rubinstein-Taybi syndrome due to CREBBP mutations
TTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCA
TTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGACAGCGCACTCCTGCTGGGGGTGTTCAGCTGGGGGAGCATTGCACTCTGTTCGGGGTTCCCCAAGTGTCCCTGATCTATGGAGCTGGCCATGGTGACTGCGAGTCCGGGGTGGGGGGAACCAGTCTGGGGTGAGACGTGGTGTGGCGAAGGCTGGGGCTGTATCCGTGGTGACGGGCTGGAATGTGGAGGCTGGGACTGGGGCCGTGGAGACTGGACAGGGGCTGGAGACCGCACCTGGTTACTAAGGGACGTGGCGATCTGCTGGCCAGGGAGATGCGAGGCCTGTGGCTGTCCTGAGAGCATGTGTTGCTGGGGGCTCATGGGGTTCGGCTGGCCTGGGGACCCAATCTGCTGCTTCATCTGCTGTTGCTGCAGAATCCGCTGCTGCAGGGCTTGCTGGATGTTGGGGGTGCTGTCTGCCCCCAGCCCCGGCTGCCCCATCTGGCCAAGCTGTCCCATCTGAGCCGCCATCTGGCCCATGGAGCTGCCCTGGAGGGGGAGATGCTGCTGCATGCGCTGCTGCTGCTGCATGGCCGGTGGGTAGCCTCCGGGTCCTTGAGGCTGCTGGAACTGGCCGTGCCCCGCCATGCCCCCAGCCATGCCGGCACTCCCTTGCTGCTGCTGCTGTTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCAGCAGCTGCCTCCGTAACATTTCTCGGTACTGTGGATTCATACTCGCCATGTTGGGGTTGTGTCCTGGGTTCATGATGTTCAAGGCCTGGCCCTGGGGGTTCAGGCCTCCCATCGCCTGCTGCTGTGGAGGCACACCGGGCCGCGGCACGCCAGCCTGCATGGCATTCAGGTTCTGCAGGCTGGGCTGCTGGTGCATGCCAGGCTGGGGTTGCATGCCGGGCTGGGACTGGAGGCCAGGCTGGGGCTGCATGCCGGGCTGATTGGCCACGTACTTGGCTGTGCGCTGTTTGATGAAAGCTGCCATTAGCTGCGGGTTTGATTTGAGAATGTTCAGCACCTGCTGTTGCTGCTGAGGGGAGCTGGGCGACTTCAGGGTCCGCAGCAGGTCTTGCAGAGCGCTGGGTGAGATGCTCCTGGGTGGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGCCTGCATGGATATCACAGGCCTGGGCAAGCCTGGCATGGGCTGCTGCTGGGGAAGGGGCGCCTGCTGCCACTGCCCGGGAGGCATGCTGGGCATGACGGGCCCGCTCACCTGGTTGGGTCGGGGCACATTCAGGCTCACGGGGGCCATCTGGCTCCCCGGGGTCCCCATGCCCGTGCGTCCTGGGGGCATGCTGTTGTTGATGTTCACCCGGTACAGGTGCTGCTGCTGCTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCGGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCA
Task1_train_22279
Chromosome 16 houses a mutation in gene CREBBP (CREB binding protein). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; not provided
CTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCA
CTGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTTGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCA
Task1_train_22280
Given a variant located on Chromosome 16 and affecting CREBBP (CREB binding protein), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Menke-Hennekam syndrome 1
TGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCAG
TGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCCCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCAG
Task1_train_22281
Gene CREBBP (CREB binding protein), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Rubinstein-Taybi syndrome due to CREBBP mutations
TGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCAG
TGGGCCTCACGCTCGATCTGCCGAGCCGCTTCCACCGCTGCAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCCCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCAG
Task1_train_22282
A sequence alteration has been identified in CREBBP (CREB binding protein) on Chromosome 16. Is it disease-inducing or harmless?
Pathogenic; Inborn genetic diseases
CAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGA
CAGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGTACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGA
Task1_train_22283
The gene CREBBP (CREB binding protein) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Menke-Hennekam syndrome 1
AGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCACTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAA
AGGAGGGGGCTGGGCCGGGGGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCTGTGGACACCGTGGTGGGGGGCTGAGTCCGGGCCACGCTGGGGAAGCCAGCTGGTGACATGCTCACGGGTGAGGGTTGGGGCTGGGCAGGGGGCTGCGGCGTCTGGGGTGTGCTGGGCTGCTGTGTGGGGGTCCCGGGCGGTGCTGAGGTAGGAGAAGGCAGACTCTGCTGAGGCACGTTGCGGGTGTTCATGGTGGCCATCCGCCGGCGCATGAGCTGGGCCTGCTGCAGGCGGTGCTGGATCTGCTGCTGGCGGAGCTTGTGTTTGATGTTGAGGCAGAAGGGCACGGGGCATTTGTTTTCTTGGCAGTGCTTGGCGTGGTAGCAGCAGAGGGCGATGAGCTGCTTGCACACCGGGCAGCCCCCGTTGGTCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCGTTGCGGCACTGGCACGCGTGCACCAGCGACTGGATGCAGCGCTGGATGCTCAGCCGGCGTGACTCCTGGGGGCTCTTTGACTGTGGCTCGCCCTGGCTGCTGCCCTCGTCATCCAGGCCCAGCCCCCACTTCACCATCTTATGGGCATGGCTCTTCGTGTTATAGCAGTTGATGCAGAGGTCGTAGTCCTGCAAGCAAGGAAAGGGGACAGGCCGGTGTCAGCATGGGACCCAGTACCACCAGGCATCCTGGCTGCTTCCCTCCACCGCTAAGTCTGGGTCTGTGCCAGGAGACCCAGGCAGGATAGGAGACCCAGACAGGATGCGAGCACGGACAGGTGGGAGACCCGGACAGGGCGGGAGCACGGACAAGATGGGATCATGGACGGGATGGGATCATGGACAACATGGGATCATGGACAGGACGGGGGCATGGACTGCCTATGTGTTGCTCCCAAGGACCTTCACTCCTGGCAACAGCCCTGAAGGCTCAAAGATAACCTGACCCATGCCCCAAGAACCCCTGGCCTGTAAGCTCACGGACAGTAGACACCAGCCCCCTTCCTTCCGACTTCCTCTGACCTGGGAGTCACATCAGCCCTTGCCACAGCCTGTCCAACTCCTGTACTCAAACTATGAAGCCAGACAGTGAAAGGCTGAGGGAGGCCGGTCCCTCCCAAAGCGCCGACAGCTGCCGTGAAGTGCCTCTGGGAAGGCCTGAGCTATCCGCAGTGCACCAGTGGGACTTCCCCAACGCGCAAGCCCAAGTTACTGAAAACTGCTCGCACCTGGCAACCTGATGGAGCCCTAGGACCAGGTACCATGACTGTGTTCACAAAAAGATATGAAAACTGCCGCATTCAGAAACTAGAAAGAGGACAAAGGAGACTGGAGAAAGGTGGAAAGCGGAAGAAGTGTGTGAAGGTGGGGAGGGAAGAAAGGCCCTCGCTCTGCTGAGGACCCGCTCTGCCCCGCTACAGACACCACAGCAAGTGAGGAGGCTCCGGGTTGGCAGGTGATGGTGACTGTCCTGGGAGGGGGATGGTGGGATCTGTCACCTGCCTGCCCTGCACAGCCTGACTCGGCCCATGCAAGGGACACCCACGTCATTTCACAGGGGGGTCAAAATTCCTAGAGGGGAGTGAGGGAGCATGACCGGGGGGTCCTTCAGGAACAAGTGGCCAGAGGGGCCCAAGCTGCCAACAGGACAGCGGGTGTTTCCAGCCATTTAGCAAGACTAGAACTGGGCACAGACAGGCCAGACTTCCCAGCAGAGCCTCCCTCTGGCCGTCCCCAGGGTCAGGCCTGTGGCTGTGGCTACACAGAGCAGGTTTAGGAAACACACACACAGCAACGCCTTCTGCCTTGTGACGCTGTCCTAGTTCTGGAGGAGTCAGTGCAGCCACCATCAGGTACAGACACCAACCCGGGCACCCATGCAAAGGGACAGGATGCTTCGTCAGACCCCAGGCCGGCTGTGGGGGTGGGGGTGGGGGCAGGGCCTACCTCGCACACAGTGCAGTGCCAGCGCGTCTCCACGTGGTGCTTGCGCTCGTTGCAGGTGTAGACAAAGCGGTCCTGGCCCTGGGTGTGCAGCTCCACCAGCATGCAGAGCGTGGACCACTTGGAGCGGCGCAAGGAGGAGAACTCCCAGTGCTTGTCTCTGGCGAGGGTGAGGAAGGCGTCGCGCCCATCCATGAGGTCACAGCTGAGCAGGGGGTCGGGGTCGACGATGGGGGGCAGGGTGTTGATGACAGGCCCAGCGTGCAGGTGGATCACGAAGAAGACCTGCAGGAGAGGAGGGGCTTTAGTCCCACACAAGGGACATGGCACCTCCAGTGGTGAGCTCAGGGCAGGCGCAGCCACCCAGCCTGCAGAATAGGCAGGTGGCTGAGCCTGATGGCCCTGATGCCTTGGGATGGAACAAAATTGGTGACACGTTGCATGATGTCACCCAACTGGTCCACTTGGTTTCCTGGGGGCCACTTCCCTCCCACCACAGACCTGCACACGGGCCCACGCCCGCCAGCTGCGAGTCTTTCCCTCCTCCCGGCCAGAGGCACGGCTGCAGCACCGCAGCCCACGCCTACCTCCTTGTGCTTCTCCATGGTGGCATACAGCTTCTGGGACAGGTCATTGGACACGTTGGGCATGCTGGGCTTCTTCTTGTTGGCGCGGCTGATGCTGCTTTTGTTCTTGTTGGTTTTCTTGTTGTTCTTCTTCTTGGCATTCTTGCTGTCGCCCTGACTGCCCTGCAACAACACGCAAGGCTGTGAGACCAGGCAAGTGCCCCTCCACACTTGGCACGGACGCCCAGCTCCCAGGCCGTGGGCATCAGGAAGCTCAGGCCAAAGTAGGTCACCACCAGGCAGACCCCATACGTGAACGGCTACAGGTGGCTGTAGGTGCTGCAGCCTTCGGGACAGAGCAGGGCCTGTCCTCGGCCAGGCTGGTGTCATTATCAGCTTTATGCCACGCTGCCTCTAAAGGGGAAAAGAGACCCAGAGTGCGAGTTCAGAAATTAACAAATGAGGGCAGTGGGGGCTGTTTCCACTGTGCCACAACCAGATGCGGAAGATTCCACGTCACAACTGTGGTCAGCAGCTGTCTGCCTTGAGGAAGGCTCTACACACCCGAGAAAGCATGAGAGCTTCCAGGAGACAGGAAAGCTGCTGATGGGAAAAGCAGCTGCCCCATCAAGAGCAGGGACTCTGAGGCCCCTGCGGGGTCCACTCAAGGCCCACGGAGAGCAGGCTGGCTCCCTGCTGGGGCCATCAGTGCTGCGCCTGACTGGCTGAAGGTGGGCTTGCTCTCAGCCCACAGGCTCCTCCTCTGGAAAGAACGCAGGATTACCACTCACTTACACTTTAACAGAGAGCTTTATTTTTTTTGAGAGACGGAGTTTTGCTCTTGTTGCCAGGCTGGAGTGCAGTGGTGTCATCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTATAGGCACCCGCCACCATGCCCGGCTACCTATCATTTTTTTTGAGACAGAGTCTCGCTCTTGTCACCCAAGCTGAAGTGCAATAACGCGATCTCGGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCGATTCTCCTGCCTGAACCTCCCTAGTAGCTGAGATTATAGGTGCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCGGACCTCGGGTGATCCGCCCGCCTGAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGTGCCCAGCCAGAGAGTTTCATTTTTAACAAGATGAGAGAGACTCTTGGTGTTCAAAGAGAGGGGTCAGTCCAGAGAGAATTCAACAATCCAGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCGGATCTCGAGGTCAGGAAATCAAGACCAACCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGCAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAA
Task1_train_22284
A variant was discovered on Chromosome 16, affecting CREBBP (CREB binding protein). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Rubinstein-Taybi syndrome
ACCAGCTACACTCCAGCGGGAGCAAGTCCGAAGACAACAGGCCAGGAGCTCTGCTTAGGAGCCACCTAGGGCGTAAACCCACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAAC
ACCAGCTACACTCCAGCGGGAGCAAGTCCGAAGACAACAGGCCAGGAGCTCTGCTTAGGAGCCACCTAGGGCGTAAACCCACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCCTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAAC
Task1_train_22285
A mutation found in CREBBP (CREB binding protein) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Rubinstein-Taybi syndrome due to CREBBP mutations
TGCTTAGGAGCCACCTAGGGCGTAAACCCACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCT
TGCTTAGGAGCCACCTAGGGCGTAAACCCACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGCACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCT
Task1_train_22286
This mutation is located in gene CREBBP (CREB binding protein) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Inborn genetic diseases
CCTAGGGCGTAAACCCACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTT
CCTAGGGCGTAAACCCACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCACTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTT
Task1_train_22287
This gene mutation involves CREBBP (CREB binding protein) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; Rubinstein-Taybi syndrome
CACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTG
CACGCCACCCCCTGCCCGCGCCTCCTCTGTCCTGCGAATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGATATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTG
Task1_train_22288
This gene mutation involves CREBBP (CREB binding protein) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; Rubinstein-Taybi syndrome due to CREBBP mutations
AATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCA
AATGACACTCTGGGGCGCCGTCCAGCAGGTGGCTGCCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTCATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCA
Task1_train_22289
Consider this mutation in CREBBP (CREB binding protein) on Chromosome 16. Is this a benign change or a disease-causing variant?
Pathogenic; Inborn genetic diseases
CCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGC
CCTCTCAACCACCTGTGCAGTGAGCACGAGTGTGTGTGGCGGAAGCGGCCCAGGCCCCACGCTCCGCCTACAGCCCATCCGGCACCCACCTCACAGACGTGCTCTCATATGGGACAGGCACCAGAGTGGCAGTATGTCCCCAGCCGGCTCCCGGCTGCCTCACCCATGGCAGCAGCCCACGCAAGAGCCACCTCCATTCACCGCTTTTCCTCACTGGTCACAATCGCCTGTCCCAAGTTCTGGGGCTGCAGCCTTCAACGTTCGTCATCGCTCTCCCTGCACCTACAGCTACAGCCCACACCCACGCCACCATCATCTCTTCCCCAGACAGCCGCACAAACCCGCACACAGCGCGCCTCCTCCCACCGCCTGGCGGGTCCTCTTCCAGCACCTTCCTGTGGTGGGCGGGTCTGGCCCACACGCCACCTCCCCAAGGCTCCTTCCCCTTCAGAGCTCTGCCACGCTCAGAGCACACCATGCTTGGGTCTGGGTTCTTTTTGTTTCACATCCTACCAGGACACAGCCACTCCCTTGGGGGCGGAGATGGGGTTTTGTTTGTTCTGAAACGGAGTCTCGCACTGTCTCCTGGGCTGGAGTGCAACGGCGCAATCTAGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCCTCGTAGCTGGGATTACAGGTGCCCCCTCCCACAACCGGCTAAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTCCCTTTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCGGGGTTACAGGTGTGAGCCACCGCGCCTGGCCAGGGATGGGGTTTTGTTTGGCTCAGTCTGCACTGCCTGGCACTCAGGGGCAGCGCCAAGGAGAGAGGGCAGCAGGGCATGAGCATCATGTGCAGAGTGGCCACCAAACACGGAATAAGGCCTGGCAACCCTGTGCCTCCTCGACTCACTTTTTACATCAGCGGGTTGTGTCCTGACTGCCCCATGTCCCATTTTCTGTCTTCCTCTCTTCCCTCTCCGAGTCTAAGTGGACCCCCAGCTCCCCAGAGCATCCACTGTGCAGAGAGTGCAGAGCCCACACTGCTGCCCACCAACGCCCTGTGCTGCAGGTGGTGTCGACGTGCATGTGTGAACGGAGACACCACCACAGGAAGGACCTAACAGTCGACACGCGCCTCCCAGCCTGCCACCCTGCAGCTCCAGCGGGACACGTGGGCAATGGAGCTCAGAGAAGGGTCTGTACCTCAGTGGTTTCACTGGCTGCAGTGCTCTCTTCCTTTTTCCTCTCCTCTTCTTCTTGTTCTAGTTCCTTAATGCTCTCTTCTAACACATTGGGCCAGAAATCACCTTCAAAATAGGGCAGTTCCTTGGCACTGGTGAGCCTGTCTTCAGTTGCTTGTTTGAAAATATCCTGAGTGGGCAAAGCACAACAGTGAGATGAGGGCCATGCACGCGTGCCCCCCACCATGGTGCGACAGACCCCCACGCAAGCGTGCCCCTCACCATGGTGTGGCAGAGTCCCATGCATGTGTGCCCCCCCACCACAGTGCAGCAGACCCCCACACATGTGCACCCCCCACCACAGTGCTGGAGCCCCTATGTGTGCAACAGTGATGCACAGGCCCCAATGCCCACTGATGGAAACAGCTCCAACTGTGCTGCTCTCAGACGGCCAGGGGAAAGCCTCAATCAGCTGAAGAAAATGCTTCTAAGTTCTCACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGCGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGC
Task1_train_22290
Gene CREBBP (CREB binding protein) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Rubinstein-Taybi syndrome
ACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGCAATCCTCCTGCCTCAGACTCCCACATAGTTAGGATGACAAGGCATGTACCATCATGCCCAGATAATTTATTTTTTGTAGAGCTAGGGTCTCACTTTGTTGTTCAGACTTGTCTCAGACTCCTGTGGTCCAGTTATCCTCCCACCTCGGCCTCCCACAGTGCTGTGATTGGCCAGTTTTTCTTTTGATGGTATTTACACTGGCCACCAAACAGGATGTGATAAACAAACAAACAAACCAAAACCCAAAAACCAACCAGTCACCAACCCTGCTGCCAATCAGTTAAATGGAATTCAGTTTTCGTCACTGAACAAAAGGATGAATGGCACCACTCGGCACAGAGAGCCACAGTTAAGGCAAACTGAGAAAAGCCACTTTTAGTTCCTTCTTGCCCAGATTCCTGACTGCACATGAAGCCCTCGTGGCAGAGCTACTTCCTCTGTTCAGGTGCCAGGCTGTCCCATCCCAACTCCCCAGGTTTACCTGCGTTAGGTAAGAGCGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGTTCATTTCCCGCTAGTTTAATGGAAAACAAAACTAACTACTTTGGTTAGTTAATTGTGGTTTCATTTACTTTAATCCCCTATGAAGGCTCACAGGCTCCTCTGGGACACTTAAGAGCCCTGGTCTATCCTAACACGGCTCACTGAATGACACGCCCTGGAAGGAGCTGGAAAACTACCTCGTGTTTGGAGGGGGGCAATCAGAGCCGTATTCTTGGACGTGCATTCCAAAAAAGCAGACATCCACGCCGTCAATTTCCTCAAAAGCAAACAGAGCTTTGGTTCGATATGGGAAAGATTCAGACATTTCCCCAGAATCCACAAACCTGAAACAAAAGCCAGAGCCGGACATTTACAAAGGCTGTTGCTGACAAGGTGCTTCTGCACACCAGGCCTGCTCCTCTAACTCTGGCCACTGCAGATGAGCGGAGGCATGGCCACCTCCTCAGACCGTGGCCTGGAGTCCTCCCTATGGGCCAGTCAGCCCCGGAGCAGGGAGCACTTGCTTTCTGACCAGTTTCCCTCACTAGGGAACTGCACCTCTGTGAATGAAATACGGGATTCTGAGGAGGACTGGCTATACAGCAGTCCCCCTTATCCACGGGGTGTATGTTCCAAGACCAGCAGTGGATGCTGGAAACCATGGACAGTATCAACCTCTATGCGTTTTTTCTTATACACCTGTACTGGTCACAAAATTTTAATTTATAAATTAGGCACAGCAAGAGATTAACAAGAATAAGTAATAATAAAATAAGAAAATTATAAACAGTATACTATAATATGGTATGTGGTCTCTCTCTCAAAATAGCTTACTGCACTGTATAGGGTAACTAAAACCCCAGACAGGACAACCGCAGCTGAGGGGGCTACTGCACGCATTCGCTGCTGCAAAGTCTTGGAAGGATGACCTCAAACTCAAGAGCTTTGCAGAGAGCAGGCTCTGGCAAGCGGGCGTGGGGACTGCTCGCAGAGCACTGTAGAGAGCAGGCACACTGACCGTGACTTCATCCCGGGCTTGACCTCCACCGTCTTGTCTGAGCTGGCCACCACTCGGACAAAAACCTCCCCGGCTTCAGGGTGATTCTGGCGCCGCAAAAATTTGTTCACTCGGTCTTCCAAGTGGTTTCCCAGTCTTGTGGTCTGCAGCCCTAGGAAGTCCAGAAGGAGCAGGTGAGAGGGCTTCAACAGCACTGCTGAGACAGTGA
ACTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACTCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGCAATCCTCCTGCCTCAGACTCCCACATAGTTAGGATGACAAGGCATGTACCATCATGCCCAGATAATTTATTTTTTGTAGAGCTAGGGTCTCACTTTGTTGTTCAGACTTGTCTCAGACTCCTGTGGTCCAGTTATCCTCCCACCTCGGCCTCCCACAGTGCTGTGATTGGCCAGTTTTTCTTTTGATGGTATTTACACTGGCCACCAAACAGGATGTGATAAACAAACAAACAAACCAAAACCCAAAAACCAACCAGTCACCAACCCTGCTGCCAATCAGTTAAATGGAATTCAGTTTTCGTCACTGAACAAAAGGATGAATGGCACCACTCGGCACAGAGAGCCACAGTTAAGGCAAACTGAGAAAAGCCACTTTTAGTTCCTTCTTGCCCAGATTCCTGACTGCACATGAAGCCCTCGTGGCAGAGCTACTTCCTCTGTTCAGGTGCCAGGCTGTCCCATCCCAACTCCCCAGGTTTACCTGCGTTAGGTAAGAGCGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGTTCATTTCCCGCTAGTTTAATGGAAAACAAAACTAACTACTTTGGTTAGTTAATTGTGGTTTCATTTACTTTAATCCCCTATGAAGGCTCACAGGCTCCTCTGGGACACTTAAGAGCCCTGGTCTATCCTAACACGGCTCACTGAATGACACGCCCTGGAAGGAGCTGGAAAACTACCTCGTGTTTGGAGGGGGGCAATCAGAGCCGTATTCTTGGACGTGCATTCCAAAAAAGCAGACATCCACGCCGTCAATTTCCTCAAAAGCAAACAGAGCTTTGGTTCGATATGGGAAAGATTCAGACATTTCCCCAGAATCCACAAACCTGAAACAAAAGCCAGAGCCGGACATTTACAAAGGCTGTTGCTGACAAGGTGCTTCTGCACACCAGGCCTGCTCCTCTAACTCTGGCCACTGCAGATGAGCGGAGGCATGGCCACCTCCTCAGACCGTGGCCTGGAGTCCTCCCTATGGGCCAGTCAGCCCCGGAGCAGGGAGCACTTGCTTTCTGACCAGTTTCCCTCACTAGGGAACTGCACCTCTGTGAATGAAATACGGGATTCTGAGGAGGACTGGCTATACAGCAGTCCCCCTTATCCACGGGGTGTATGTTCCAAGACCAGCAGTGGATGCTGGAAACCATGGACAGTATCAACCTCTATGCGTTTTTTCTTATACACCTGTACTGGTCACAAAATTTTAATTTATAAATTAGGCACAGCAAGAGATTAACAAGAATAAGTAATAATAAAATAAGAAAATTATAAACAGTATACTATAATATGGTATGTGGTCTCTCTCTCAAAATAGCTTACTGCACTGTATAGGGTAACTAAAACCCCAGACAGGACAACCGCAGCTGAGGGGGCTACTGCACGCATTCGCTGCTGCAAAGTCTTGGAAGGATGACCTCAAACTCAAGAGCTTTGCAGAGAGCAGGCTCTGGCAAGCGGGCGTGGGGACTGCTCGCAGAGCACTGTAGAGAGCAGGCACACTGACCGTGACTTCATCCCGGGCTTGACCTCCACCGTCTTGTCTGAGCTGGCCACCACTCGGACAAAAACCTCCCCGGCTTCAGGGTGATTCTGGCGCCGCAAAAATTTGTTCACTCGGTCTTCCAAGTGGTTTCCCAGTCTTGTGGTCTGCAGCCCTAGGAAGTCCAGAAGGAGCAGGTGAGAGGGCTTCAACAGCACTGCTGAGACAGTGA
Task1_train_22291
This sequence variant lies in CREBBP (CREB binding protein) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
Pathogenic; not provided
CTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGCAATCCTCCTGCCTCAGACTCCCACATAGTTAGGATGACAAGGCATGTACCATCATGCCCAGATAATTTATTTTTTGTAGAGCTAGGGTCTCACTTTGTTGTTCAGACTTGTCTCAGACTCCTGTGGTCCAGTTATCCTCCCACCTCGGCCTCCCACAGTGCTGTGATTGGCCAGTTTTTCTTTTGATGGTATTTACACTGGCCACCAAACAGGATGTGATAAACAAACAAACAAACCAAAACCCAAAAACCAACCAGTCACCAACCCTGCTGCCAATCAGTTAAATGGAATTCAGTTTTCGTCACTGAACAAAAGGATGAATGGCACCACTCGGCACAGAGAGCCACAGTTAAGGCAAACTGAGAAAAGCCACTTTTAGTTCCTTCTTGCCCAGATTCCTGACTGCACATGAAGCCCTCGTGGCAGAGCTACTTCCTCTGTTCAGGTGCCAGGCTGTCCCATCCCAACTCCCCAGGTTTACCTGCGTTAGGTAAGAGCGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGTTCATTTCCCGCTAGTTTAATGGAAAACAAAACTAACTACTTTGGTTAGTTAATTGTGGTTTCATTTACTTTAATCCCCTATGAAGGCTCACAGGCTCCTCTGGGACACTTAAGAGCCCTGGTCTATCCTAACACGGCTCACTGAATGACACGCCCTGGAAGGAGCTGGAAAACTACCTCGTGTTTGGAGGGGGGCAATCAGAGCCGTATTCTTGGACGTGCATTCCAAAAAAGCAGACATCCACGCCGTCAATTTCCTCAAAAGCAAACAGAGCTTTGGTTCGATATGGGAAAGATTCAGACATTTCCCCAGAATCCACAAACCTGAAACAAAAGCCAGAGCCGGACATTTACAAAGGCTGTTGCTGACAAGGTGCTTCTGCACACCAGGCCTGCTCCTCTAACTCTGGCCACTGCAGATGAGCGGAGGCATGGCCACCTCCTCAGACCGTGGCCTGGAGTCCTCCCTATGGGCCAGTCAGCCCCGGAGCAGGGAGCACTTGCTTTCTGACCAGTTTCCCTCACTAGGGAACTGCACCTCTGTGAATGAAATACGGGATTCTGAGGAGGACTGGCTATACAGCAGTCCCCCTTATCCACGGGGTGTATGTTCCAAGACCAGCAGTGGATGCTGGAAACCATGGACAGTATCAACCTCTATGCGTTTTTTCTTATACACCTGTACTGGTCACAAAATTTTAATTTATAAATTAGGCACAGCAAGAGATTAACAAGAATAAGTAATAATAAAATAAGAAAATTATAAACAGTATACTATAATATGGTATGTGGTCTCTCTCTCAAAATAGCTTACTGCACTGTATAGGGTAACTAAAACCCCAGACAGGACAACCGCAGCTGAGGGGGCTACTGCACGCATTCGCTGCTGCAAAGTCTTGGAAGGATGACCTCAAACTCAAGAGCTTTGCAGAGAGCAGGCTCTGGCAAGCGGGCGTGGGGACTGCTCGCAGAGCACTGTAGAGAGCAGGCACACTGACCGTGACTTCATCCCGGGCTTGACCTCCACCGTCTTGTCTGAGCTGGCCACCACTCGGACAAAAACCTCCCCGGCTTCAGGGTGATTCTGGCGCCGCAAAAATTTGTTCACTCGGTCTTCCAAGTGGTTTCCCAGTCTTGTGGTCTGCAGCCCTAGGAAGTCCAGAAGGAGCAGGTGAGAGGGCTTCAACAGCACTGCTGAGACAGTGAC
CTTTAGGCTTTTATTTTTCTGCTTTCTAATCCTCATAAGTGAAGGTAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCTTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGCAATCCTCCTGCCTCAGACTCCCACATAGTTAGGATGACAAGGCATGTACCATCATGCCCAGATAATTTATTTTTTGTAGAGCTAGGGTCTCACTTTGTTGTTCAGACTTGTCTCAGACTCCTGTGGTCCAGTTATCCTCCCACCTCGGCCTCCCACAGTGCTGTGATTGGCCAGTTTTTCTTTTGATGGTATTTACACTGGCCACCAAACAGGATGTGATAAACAAACAAACAAACCAAAACCCAAAAACCAACCAGTCACCAACCCTGCTGCCAATCAGTTAAATGGAATTCAGTTTTCGTCACTGAACAAAAGGATGAATGGCACCACTCGGCACAGAGAGCCACAGTTAAGGCAAACTGAGAAAAGCCACTTTTAGTTCCTTCTTGCCCAGATTCCTGACTGCACATGAAGCCCTCGTGGCAGAGCTACTTCCTCTGTTCAGGTGCCAGGCTGTCCCATCCCAACTCCCCAGGTTTACCTGCGTTAGGTAAGAGCGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGTTCATTTCCCGCTAGTTTAATGGAAAACAAAACTAACTACTTTGGTTAGTTAATTGTGGTTTCATTTACTTTAATCCCCTATGAAGGCTCACAGGCTCCTCTGGGACACTTAAGAGCCCTGGTCTATCCTAACACGGCTCACTGAATGACACGCCCTGGAAGGAGCTGGAAAACTACCTCGTGTTTGGAGGGGGGCAATCAGAGCCGTATTCTTGGACGTGCATTCCAAAAAAGCAGACATCCACGCCGTCAATTTCCTCAAAAGCAAACAGAGCTTTGGTTCGATATGGGAAAGATTCAGACATTTCCCCAGAATCCACAAACCTGAAACAAAAGCCAGAGCCGGACATTTACAAAGGCTGTTGCTGACAAGGTGCTTCTGCACACCAGGCCTGCTCCTCTAACTCTGGCCACTGCAGATGAGCGGAGGCATGGCCACCTCCTCAGACCGTGGCCTGGAGTCCTCCCTATGGGCCAGTCAGCCCCGGAGCAGGGAGCACTTGCTTTCTGACCAGTTTCCCTCACTAGGGAACTGCACCTCTGTGAATGAAATACGGGATTCTGAGGAGGACTGGCTATACAGCAGTCCCCCTTATCCACGGGGTGTATGTTCCAAGACCAGCAGTGGATGCTGGAAACCATGGACAGTATCAACCTCTATGCGTTTTTTCTTATACACCTGTACTGGTCACAAAATTTTAATTTATAAATTAGGCACAGCAAGAGATTAACAAGAATAAGTAATAATAAAATAAGAAAATTATAAACAGTATACTATAATATGGTATGTGGTCTCTCTCTCAAAATAGCTTACTGCACTGTATAGGGTAACTAAAACCCCAGACAGGACAACCGCAGCTGAGGGGGCTACTGCACGCATTCGCTGCTGCAAAGTCTTGGAAGGATGACCTCAAACTCAAGAGCTTTGCAGAGAGCAGGCTCTGGCAAGCGGGCGTGGGGACTGCTCGCAGAGCACTGTAGAGAGCAGGCACACTGACCGTGACTTCATCCCGGGCTTGACCTCCACCGTCTTGTCTGAGCTGGCCACCACTCGGACAAAAACCTCCCCGGCTTCAGGGTGATTCTGGCGCCGCAAAAATTTGTTCACTCGGTCTTCCAAGTGGTTTCCCAGTCTTGTGGTCTGCAGCCCTAGGAAGTCCAGAAGGAGCAGGTGAGAGGGCTTCAACAGCACTGCTGAGACAGTGAC
Task1_train_22292
The gene CREBBP (CREB binding protein) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Inborn genetic diseases
TAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGCAATCCTCCTGCCTCAGACTCCCACATAGTTAGGATGACAAGGCATGTACCATCATGCCCAGATAATTTATTTTTTGTAGAGCTAGGGTCTCACTTTGTTGTTCAGACTTGTCTCAGACTCCTGTGGTCCAGTTATCCTCCCACCTCGGCCTCCCACAGTGCTGTGATTGGCCAGTTTTTCTTTTGATGGTATTTACACTGGCCACCAAACAGGATGTGATAAACAAACAAACAAACCAAAACCCAAAAACCAACCAGTCACCAACCCTGCTGCCAATCAGTTAAATGGAATTCAGTTTTCGTCACTGAACAAAAGGATGAATGGCACCACTCGGCACAGAGAGCCACAGTTAAGGCAAACTGAGAAAAGCCACTTTTAGTTCCTTCTTGCCCAGATTCCTGACTGCACATGAAGCCCTCGTGGCAGAGCTACTTCCTCTGTTCAGGTGCCAGGCTGTCCCATCCCAACTCCCCAGGTTTACCTGCGTTAGGTAAGAGCGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGTTCATTTCCCGCTAGTTTAATGGAAAACAAAACTAACTACTTTGGTTAGTTAATTGTGGTTTCATTTACTTTAATCCCCTATGAAGGCTCACAGGCTCCTCTGGGACACTTAAGAGCCCTGGTCTATCCTAACACGGCTCACTGAATGACACGCCCTGGAAGGAGCTGGAAAACTACCTCGTGTTTGGAGGGGGGCAATCAGAGCCGTATTCTTGGACGTGCATTCCAAAAAAGCAGACATCCACGCCGTCAATTTCCTCAAAAGCAAACAGAGCTTTGGTTCGATATGGGAAAGATTCAGACATTTCCCCAGAATCCACAAACCTGAAACAAAAGCCAGAGCCGGACATTTACAAAGGCTGTTGCTGACAAGGTGCTTCTGCACACCAGGCCTGCTCCTCTAACTCTGGCCACTGCAGATGAGCGGAGGCATGGCCACCTCCTCAGACCGTGGCCTGGAGTCCTCCCTATGGGCCAGTCAGCCCCGGAGCAGGGAGCACTTGCTTTCTGACCAGTTTCCCTCACTAGGGAACTGCACCTCTGTGAATGAAATACGGGATTCTGAGGAGGACTGGCTATACAGCAGTCCCCCTTATCCACGGGGTGTATGTTCCAAGACCAGCAGTGGATGCTGGAAACCATGGACAGTATCAACCTCTATGCGTTTTTTCTTATACACCTGTACTGGTCACAAAATTTTAATTTATAAATTAGGCACAGCAAGAGATTAACAAGAATAAGTAATAATAAAATAAGAAAATTATAAACAGTATACTATAATATGGTATGTGGTCTCTCTCTCAAAATAGCTTACTGCACTGTATAGGGTAACTAAAACCCCAGACAGGACAACCGCAGCTGAGGGGGCTACTGCACGCATTCGCTGCTGCAAAGTCTTGGAAGGATGACCTCAAACTCAAGAGCTTTGCAGAGAGCAGGCTCTGGCAAGCGGGCGTGGGGACTGCTCGCAGAGCACTGTAGAGAGCAGGCACACTGACCGTGACTTCATCCCGGGCTTGACCTCCACCGTCTTGTCTGAGCTGGCCACCACTCGGACAAAAACCTCCCCGGCTTCAGGGTGATTCTGGCGCCGCAAAAATTTGTTCACTCGGTCTTCCAAGTGGTTTCCCAGTCTTGTGGTCTGCAGCCCTAGGAAGTCCAGAAGGAGCAGGTGAGAGGGCTTCAACAGCACTGCTGAGACAGTGACTGAGACTAGAGAATCCACCCCACTTTGCAGCACAGGCTGATATTT
TAATTAACAAGTATGCGAATGCAAGAAAAAGGCACACAAATATCCTCCCCTCAGTTGTGACAAAAGCCACCACCTTCCTTCAGCGCCGGGTACCTTGTAGTCATGGATGATCCGCTCTGCAAACGCCTTGTCCAGCATCTTTTTGTACCACTCCTGCAGTCGTTTTGGCTTGGGTATTTTTTGATCAGGTGGGTGGCAATGGAAGATGTAATCATCTCCTTCACTTGGAGGACAGGCCCAGATGTGCCCTGTCACATACCTGCAGGACCCACGCACACACGTCAGATGAACGTGCCAGTGAAATCGGCCCTGCCTTTAAGGAGTTATAGCAGAGGAGCAAGGACTAAAGCCAGGACAGAAGTAACCAGAGAGAGAGAATGAATGCCCACAAAGCTGGGTGTGGTGGGGGCAAGGCTCGAACTTTATCCTGAGCAAATGCAAGCCTGCAAATTAGCCCTGCAACACTTCTCCCTTGGGGTGCACACACAGGGCAGGGCCGAGGCTGCAAAAGAAACCTGAGGCCTCATTAAAGAACCAGGGAATATGATGGCTCATCAAGGCAATGCCATCCCCTTCCTCCTGTGCACTGTAAAGGCAGTTCGGTTGACTATTTTTCTCCAAGGGTCAATGTCAACATAAACCTCATTCATTCTGTTCAAGACACTTTGATCAAATGCCCCTATCCTTTTCAAGTTTCAGAAGGGAATGGGGCAGGTCTAGAGTACAGAAACCAAGGGCTAGAGAAGGAAGCCAGACCCAAGACAGCATACGCTGCAGGGTTCCGTTTACACAAAGGATTCACAAAAGACAAATTCAGAGAGACAAAGTAGATTAGTGGTCGCCTGGGGCAGGGAAGGTTTAACAGCAAGGGGCAGGAGGAACATTTTTTTTCTTTTTTCTTTTTTTTTTTTTGCGGGCGGGGGGCAGAGTTTCATTGTTGTTGCCCAGGGTGGAGTGCAATGGCATGATCTCGACTCAGCGCATCCTCTGTCTCCCTGGTTCGAGTGGCTCTCCTGCCCCCACCTCCTGAGGAGCTGGGATTACGCTAGGCACCCGCCACCACGCCTGGCTCATTTTTTGTATTTTTAGTACAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTACTAGGATTACAGACTAGGTGAGCCAATTTTTTTTTGTATTTTTCTTTTTTTCTTTTCTTTCTTTTTTCTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCCCCCGCCTCCTGGATTCAAGGAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGCTCATGCTACTATGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCGCAGCAGGAGGGATCTTATAGGTCAATAACAATGTTCTGAAACTGACTTGTGATAGTTGCACTAATGGGTAAAGTTACTAAAAACCACTGAATCATATATCCAAAAAAGGGGAATTCTATGATATGTAAACTTTGCCTCAATAAAGTTAAAAAAAAAAAAAAAGGGAATGAAAAGGAAGTAAAGGTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTGAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGCAATCCTCCTGCCTCAGACTCCCACATAGTTAGGATGACAAGGCATGTACCATCATGCCCAGATAATTTATTTTTTGTAGAGCTAGGGTCTCACTTTGTTGTTCAGACTTGTCTCAGACTCCTGTGGTCCAGTTATCCTCCCACCTCGGCCTCCCACAGTGCTGTGATTGGCCAGTTTTTCTTTTGATGGTATTTACACTGGCCACCAAACAGGATGTGATAAACAAACAAACAAACCAAAACCCAAAAACCAACCAGTCACCAACCCTGCTGCCAATCAGTTAAATGGAATTCAGTTTTCGTCACTGAACAAAAGGATGAATGGCACCACTCGGCACAGAGAGCCACAGTTAAGGCAAACTGAGAAAAGCCACTTTTAGTTCCTTCTTGCCCAGATTCCTGACTGCACATGAAGCCCTCGTGGCAGAGCTACTTCCTCTGTTCAGGTGCCAGGCTGTCCCATCCCAACTCCCCAGGTTTACCTGCGTTAGGTAAGAGCGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGTTCATTTCCCGCTAGTTTAATGGAAAACAAAACTAACTACTTTGGTTAGTTAATTGTGGTTTCATTTACTTTAATCCCCTATGAAGGCTCACAGGCTCCTCTGGGACACTTAAGAGCCCTGGTCTATCCTAACACGGCTCACTGAATGACACGCCCTGGAAGGAGCTGGAAAACTACCTCGTGTTTGGAGGGGGGCAATCAGAGCCGTATTCTTGGACGTGCATTCCAAAAAAGCAGACATCCACGCCGTCAATTTCCTCAAAAGCAAACAGAGCTTTGGTTCGATATGGGAAAGATTCAGACATTTCCCCAGAATCCACAAACCTGAAACAAAAGCCAGAGCCGGACATTTACAAAGGCTGTTGCTGACAAGGTGCTTCTGCACACCAGGCCTGCTCCTCTAACTCTGGCCACTGCAGATGAGCGGAGGCATGGCCACCTCCTCAGACCGTGGCCTGGAGTCCTCCCTATGGGCCAGTCAGCCCCGGAGCAGGGAGCACTTGCTTTCTGACCAGTTTCCCTCACTAGGGAACTGCACCTCTGTGAATGAAATACGGGATTCTGAGGAGGACTGGCTATACAGCAGTCCCCCTTATCCACGGGGTGTATGTTCCAAGACCAGCAGTGGATGCTGGAAACCATGGACAGTATCAACCTCTATGCGTTTTTTCTTATACACCTGTACTGGTCACAAAATTTTAATTTATAAATTAGGCACAGCAAGAGATTAACAAGAATAAGTAATAATAAAATAAGAAAATTATAAACAGTATACTATAATATGGTATGTGGTCTCTCTCTCAAAATAGCTTACTGCACTGTATAGGGTAACTAAAACCCCAGACAGGACAACCGCAGCTGAGGGGGCTACTGCACGCATTCGCTGCTGCAAAGTCTTGGAAGGATGACCTCAAACTCAAGAGCTTTGCAGAGAGCAGGCTCTGGCAAGCGGGCGTGGGGACTGCTCGCAGAGCACTGTAGAGAGCAGGCACACTGACCGTGACTTCATCCCGGGCTTGACCTCCACCGTCTTGTCTGAGCTGGCCACCACTCGGACAAAAACCTCCCCGGCTTCAGGGTGATTCTGGCGCCGCAAAAATTTGTTCACTCGGTCTTCCAAGTGGTTTCCCAGTCTTGTGGTCTGCAGCCCTAGGAAGTCCAGAAGGAGCAGGTGAGAGGGCTTCAACAGCACTGCTGAGACAGTGACTGAGACTAGAGAATCCACCCCACTTTGCAGCACAGGCTGATATTT
Task1_train_22293
A sequence alteration has been identified in CREBBP (CREB binding protein) on Chromosome 16. Is it disease-inducing or harmless?
Pathogenic; Neurodevelopmental disorder
GTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGCAATCCTCCTGCCTCAGACTCCCACATAGTTAGGATGACAAGGCATGTACCATCATGCCCAGATAATTTATTTTTTGTAGAGCTAGGGTCTCACTTTGTTGTTCAGACTTGTCTCAGACTCCTGTGGTCCAGTTATCCTCCCACCTCGGCCTCCCACAGTGCTGTGATTGGCCAGTTTTTCTTTTGATGGTATTTACACTGGCCACCAAACAGGATGTGATAAACAAACAAACAAACCAAAACCCAAAAACCAACCAGTCACCAACCCTGCTGCCAATCAGTTAAATGGAATTCAGTTTTCGTCACTGAACAAAAGGATGAATGGCACCACTCGGCACAGAGAGCCACAGTTAAGGCAAACTGAGAAAAGCCACTTTTAGTTCCTTCTTGCCCAGATTCCTGACTGCACATGAAGCCCTCGTGGCAGAGCTACTTCCTCTGTTCAGGTGCCAGGCTGTCCCATCCCAACTCCCCAGGTTTACCTGCGTTAGGTAAGAGCGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGTTCATTTCCCGCTAGTTTAATGGAAAACAAAACTAACTACTTTGGTTAGTTAATTGTGGTTTCATTTACTTTAATCCCCTATGAAGGCTCACAGGCTCCTCTGGGACACTTAAGAGCCCTGGTCTATCCTAACACGGCTCACTGAATGACACGCCCTGGAAGGAGCTGGAAAACTACCTCGTGTTTGGAGGGGGGCAATCAGAGCCGTATTCTTGGACGTGCATTCCAAAAAAGCAGACATCCACGCCGTCAATTTCCTCAAAAGCAAACAGAGCTTTGGTTCGATATGGGAAAGATTCAGACATTTCCCCAGAATCCACAAACCTGAAACAAAAGCCAGAGCCGGACATTTACAAAGGCTGTTGCTGACAAGGTGCTTCTGCACACCAGGCCTGCTCCTCTAACTCTGGCCACTGCAGATGAGCGGAGGCATGGCCACCTCCTCAGACCGTGGCCTGGAGTCCTCCCTATGGGCCAGTCAGCCCCGGAGCAGGGAGCACTTGCTTTCTGACCAGTTTCCCTCACTAGGGAACTGCACCTCTGTGAATGAAATACGGGATTCTGAGGAGGACTGGCTATACAGCAGTCCCCCTTATCCACGGGGTGTATGTTCCAAGACCAGCAGTGGATGCTGGAAACCATGGACAGTATCAACCTCTATGCGTTTTTTCTTATACACCTGTACTGGTCACAAAATTTTAATTTATAAATTAGGCACAGCAAGAGATTAACAAGAATAAGTAATAATAAAATAAGAAAATTATAAACAGTATACTATAATATGGTATGTGGTCTCTCTCTCAAAATAGCTTACTGCACTGTATAGGGTAACTAAAACCCCAGACAGGACAACCGCAGCTGAGGGGGCTACTGCACGCATTCGCTGCTGCAAAGTCTTGGAAGGATGACCTCAAACTCAAGAGCTTTGCAGAGAGCAGGCTCTGGCAAGCGGGCGTGGGGACTGCTCGCAGAGCACTGTAGAGAGCAGGCACACTGACCGTGACTTCATCCCGGGCTTGACCTCCACCGTCTTGTCTGAGCTGGCCACCACTCGGACAAAAACCTCCCCGGCTTCAGGGTGATTCTGGCGCCGCAAAAATTTGTTCACTCGGTCTTCCAAGTGGTTTCCCAGTCTTGTGGTCTGCAGCCCTAGGAAGTCCAGAAGGAGCAGGTGAGAGGGCTTCAACAGCACTGCTGAGACAGTGACTGAGACTAGAGAATCCACCCCACTTTGCAGCACAGGCTGATATTTTAAAGGACTAATGTTCTCCAAACACGGAAGAAATCTAATCTGTCCTGTGACACGAGTGTTATATAAAGGAAAGGTGGACTCTGGGATCTCAGGCACTCCACTCCTGAAAACCGTTTACGTGCCCAGGTAACCTGCATCTTTTTCTAACAGTATGGGGCAGAAGACCTATAGCGGTGGGTCCAAAATTGACAGGGGCTCTAGGGCGGAGCAGATGGATGTTTCCCTGTTGCTTCCCGCTTTCCCTGGAGGGCAGAGATGGCACACCCTCAGTGGGCTCCTCCTGCCCAGCTCTGAGGAGAAAGTCCCTACTATGGAGTCTGACGTGAACGTGGAACGTTCTAGGGCTAACCAATTAAGCTCTGGCCAGAGCCTGTCCGGTGCCTCAGGAGCTGGCAAAGTATTGGTGTCCAAGCCTGCCCTGAGCCATCGCCTCGTGCGGTGCACGAATGAAGTTTCCGAGCCTTGGCGAGGGCAGCCTTTCCTGGGCTCACCTCCCCGCCGCCACCCCTCCTCACCCAGGGCCAGCCCCGGGAGGGCTACCGTCACAGGAGCTAGCCAGAGGCAGGACATTACTTCAGGACAGAGAACGCCTCATATACAGGTTAAAAAACTATAAGGGAAAGTTGCAAAAGGTTCTTAGTGATTACGTATAGACAATGAGATTTTAAAAGATGTTTTCTTCTTTGCTGGCTTTTAAATATTTCCTACATTAGTGAGAAATAGGAAAATTGGGAATTTTCGAAGATTCCTTAGCGAGCTAGAAAATTTAGACCAAACTTCTAAATTTCATTTTTCTGCAATAAACAAACCAGTGGTGCTGATTTTTGGATAAGTTGTACCTGAATAAAAATGATTTAAAAAGAAAAATGTGGCCGGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAAAACGGAGAAACCCCATCTCTACTAAAAATACAAAATTAAGCTGAGCGCAGTGACTCACACCTGTAATCCCAGCTCTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCGTCTCCACTAAGAATGCAAAATTAAGTCGGGAGCGATGGCTCATGCCTGTAATTCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGCGATCGGGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAACAGAAAAAATTAGGACTACAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCGGGAGGCAAGAGCTTGCAGTGAGCCGACATCACGTGACTGCACTCCAGTGTGGGCGACAGAGCGAGACTCTGTCTGCACAAACAAAACAAAACAAAAAAAAAACAAAAAAACCCCCCAAAAAAACAAACAAAAAAAACTCTTCCAGAGTAACTTCGCTATTTGACACCTGTGATCCACACATGGCTGCATACTCCAGAGGTGGTCTCAGACAGCACAGGGGTCTAGGCGCAGGCCGTGCTCACTGCGGTGCACTCTGCGCAACCTTCCTCACAGTGCTGCCTCCTTTTCTGTTATCACTCGATTTGGCCACTGTTCCTACTTTTTCATCACTCCTTGCCATTGCTGCAGTTATGTCCTTGTATGTGCCGTTATGCATATGTGCAAATATTTTTATAGGATACATGTGTGAAAGTAGACTTGCTAAATCTAAAAATGAACACT
GTAGGGAAAGAGCTTGCTACGTGCCCAGGAGCCAGACCTGTGAGGCTCGGGGAGCACCTGGAAAGAGGAGCTTTGGAGATTCTGAATTGATCTTAGGATGGAAAAATAAAAACGCATAAAACTTAAAATACCCATTATTTCACGGAATAAACATACAGTAAAAAATAAAGGGTTCTTACTAGTTCCAAATAATTTAATCCAAACTCACCCTAATTTCTTCACATACTCTAAATATCCAATAAGGATCTCATGGTAAACGGCTGTGCGGAGGCAACGTGGCCGGAAGAAATGAATACTATCCAGATAAGAAATGTACACACGCCTGTGGGAAGGAGGCACATGTTTAACTCAGGGTATCCCTCAAATCTGAAATCAAACACAAGCAACAAACAACACCCTGGAAGTTTACTTTTTAGACAGGGTCTTGCTCTGTCATTCAGGCTGCAATGCGGTGACGCGGTCACAGCTCACTGCAACCTCAACCTCATGGGCTCAAGCAATCCTCCTGCCTCAGACTCCCACATAGTTAGGATGACAAGGCATGTACCATCATGCCCAGATAATTTATTTTTTGTAGAGCTAGGGTCTCACTTTGTTGTTCAGACTTGTCTCAGACTCCTGTGGTCCAGTTATCCTCCCACCTCGGCCTCCCACAGTGCTGTGATTGGCCAGTTTTTCTTTTGATGGTATTTACACTGGCCACCAAACAGGATGTGATAAACAAACAAACAAACCAAAACCCAAAAACCAACCAGTCACCAACCCTGCTGCCAATCAGTTAAATGGAATTCAGTTTTCGTCACTGAACAAAAGGATGAATGGCACCACTCGGCACAGAGAGCCACAGTTAAGGCAAACTGAGAAAAGCCACTTTTAGTTCCTTCTTGCCCAGATTCCTGACTGCACATGAAGCCCTCGTGGCAGAGCTACTTCCTCTGTTCAGGTGCCAGGCTGTCCCATCCCAACTCCCCAGGTTTACCTGCGTTAGGTAAGAGCGGGTCCCACACAGACTCGCCACACAAAACACGCTCACTGCAGTCATCTCAACAGTTCATTTCCCGCTAGTTTAATGGAAAACAAAACTAACTACTTTGGTTAGTTAATTGTGGTTTCATTTACTTTAATCCCCTATGAAGGCTCACAGGCTCCTCTGGGACACTTAAGAGCCCTGGTCTATCCTAACACGGCTCACTGAATGACACGCCCTGGAAGGAGCTGGAAAACTACCTCGTGTTTGGAGGGGGGCAATCAGAGCCGTATTCTTGGACGTGCATTCCAAAAAAGCAGACATCCACGCCGTCAATTTCCTCAAAAGCAAACAGAGCTTTGGTTCGATATGGGAAAGATTCAGACATTTCCCCAGAATCCACAAACCTGAAACAAAAGCCAGAGCCGGACATTTACAAAGGCTGTTGCTGACAAGGTGCTTCTGCACACCAGGCCTGCTCCTCTAACTCTGGCCACTGCAGATGAGCGGAGGCATGGCCACCTCCTCAGACCGTGGCCTGGAGTCCTCCCTATGGGCCAGTCAGCCCCGGAGCAGGGAGCACTTGCTTTCTGACCAGTTTCCCTCACTAGGGAACTGCACCTCTGTGAATGAAATACGGGATTCTGAGGAGGACTGGCTATACAGCAGTCCCCCTTATCCACGGGGTGTATGTTCCAAGACCAGCAGTGGATGCTGGAAACCATGGACAGTATCAACCTCTATGCGTTTTTTCTTATACACCTGTACTGGTCACAAAATTTTAATTTATAAATTAGGCACAGCAAGAGATTAACAAGAATAAGTAATAATAAAATAAGAAAATTATAAACAGTATACTATAATATGGTATGTGGTCTCTCTCTCAAAATAGCTTACTGCACTGTATAGGGTAACTAAAACCCCAGACAGGACAACCGCAGCTGAGGGGGCTACTGCACGCATTCGCTGCTGCAAAGTCTTGGAAGGATGACCTCAAACTCAAGAGCTTTGCAGAGAGCAGGCTCTGGCAAGCGGGCGTGGGGACTGCTCGCAGAGCACTGTAGAGAGCAGGCACACTGACTGTGACTTCATCCCGGGCTTGACCTCCACCGTCTTGTCTGAGCTGGCCACCACTCGGACAAAAACCTCCCCGGCTTCAGGGTGATTCTGGCGCCGCAAAAATTTGTTCACTCGGTCTTCCAAGTGGTTTCCCAGTCTTGTGGTCTGCAGCCCTAGGAAGTCCAGAAGGAGCAGGTGAGAGGGCTTCAACAGCACTGCTGAGACAGTGACTGAGACTAGAGAATCCACCCCACTTTGCAGCACAGGCTGATATTTTAAAGGACTAATGTTCTCCAAACACGGAAGAAATCTAATCTGTCCTGTGACACGAGTGTTATATAAAGGAAAGGTGGACTCTGGGATCTCAGGCACTCCACTCCTGAAAACCGTTTACGTGCCCAGGTAACCTGCATCTTTTTCTAACAGTATGGGGCAGAAGACCTATAGCGGTGGGTCCAAAATTGACAGGGGCTCTAGGGCGGAGCAGATGGATGTTTCCCTGTTGCTTCCCGCTTTCCCTGGAGGGCAGAGATGGCACACCCTCAGTGGGCTCCTCCTGCCCAGCTCTGAGGAGAAAGTCCCTACTATGGAGTCTGACGTGAACGTGGAACGTTCTAGGGCTAACCAATTAAGCTCTGGCCAGAGCCTGTCCGGTGCCTCAGGAGCTGGCAAAGTATTGGTGTCCAAGCCTGCCCTGAGCCATCGCCTCGTGCGGTGCACGAATGAAGTTTCCGAGCCTTGGCGAGGGCAGCCTTTCCTGGGCTCACCTCCCCGCCGCCACCCCTCCTCACCCAGGGCCAGCCCCGGGAGGGCTACCGTCACAGGAGCTAGCCAGAGGCAGGACATTACTTCAGGACAGAGAACGCCTCATATACAGGTTAAAAAACTATAAGGGAAAGTTGCAAAAGGTTCTTAGTGATTACGTATAGACAATGAGATTTTAAAAGATGTTTTCTTCTTTGCTGGCTTTTAAATATTTCCTACATTAGTGAGAAATAGGAAAATTGGGAATTTTCGAAGATTCCTTAGCGAGCTAGAAAATTTAGACCAAACTTCTAAATTTCATTTTTCTGCAATAAACAAACCAGTGGTGCTGATTTTTGGATAAGTTGTACCTGAATAAAAATGATTTAAAAAGAAAAATGTGGCCGGGCACAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAAAACGGAGAAACCCCATCTCTACTAAAAATACAAAATTAAGCTGAGCGCAGTGACTCACACCTGTAATCCCAGCTCTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCGTCTCCACTAAGAATGCAAAATTAAGTCGGGAGCGATGGCTCATGCCTGTAATTCCAGCATTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGCGATCGGGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAAACAGAAAAAATTAGGACTACAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCGGGAGGCAAGAGCTTGCAGTGAGCCGACATCACGTGACTGCACTCCAGTGTGGGCGACAGAGCGAGACTCTGTCTGCACAAACAAAACAAAACAAAAAAAAAACAAAAAAACCCCCCAAAAAAACAAACAAAAAAAACTCTTCCAGAGTAACTTCGCTATTTGACACCTGTGATCCACACATGGCTGCATACTCCAGAGGTGGTCTCAGACAGCACAGGGGTCTAGGCGCAGGCCGTGCTCACTGCGGTGCACTCTGCGCAACCTTCCTCACAGTGCTGCCTCCTTTTCTGTTATCACTCGATTTGGCCACTGTTCCTACTTTTTCATCACTCCTTGCCATTGCTGCAGTTATGTCCTTGTATGTGCCGTTATGCATATGTGCAAATATTTTTATAGGATACATGTGTGAAAGTAGACTTGCTAAATCTAAAAATGAACACT
Task1_train_22294
With a mutation on Chromosome 16 in gene CREBBP (CREB binding protein), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Rubinstein-Taybi syndrome
TTTTGAGACATTTTTGTGTCAAAAGGATTTTTTTTAAAAATAGGATTTTGATGGGAGTTATTACTTATCTTGAATATGGATTTTTAAAAAAAACATAGAAGAATTAAAACACATAACCATAAAACTCCAAAATTTTCAGGCCTGTGAACAAATAACAAAAAGCCTTCTGTCTTCTTTGAAGTATAGGACATAATTACTCTGACCAAATGAGAGTAAAATAATAAAAAACGCCAAACCCCACTGTTGACGCTTATTATTTGAACCTAAAGACAAAGAACAGGCACAAACCTCTATCTTGGCCACAGAGAATCCAGCTGCTGGCTCATAAAATAGAGGCAACGTCACAGTTTGAGCAAGATTCCTGACCTGTGCCTCCACGCATGGTGCGCTCACACTGCAGCGGCACATGGACACTTACACGCTGCGGTACAGATAAGCTGACTTCTCAAACAACTCCAAAACTACGCAAGCTGTATTTTGTGGGAAACCACAACAAAAAATACTATTCTCACTCTCTACCTATTTTAAGACAGGAGATCTATTCTTTAGCCATCTTCATATTCCAAAAGAATGGCAAGTATTTCTTAAGCAGATCCACCACTCACAAAACCCTGAAATGGCCATCTTATAATAGGAGGCAACAGAATCACATTCTTGAACTCAATTAAAACACCAGATCTCATTTTGTATCGTGCTGCTAGTGTAAAATTTAAAAATAAAGATCATGGACCCTTTTCCTCTGCCTTATAGGAAGCAGCACTCATGCAAGTCTTTCCATGAGACTGATCAGGCCAAATTACCAGGCAAATATTTGCAGGTAGAATAGTAAAATCCACATTTTCTACTCTATGAACATCTTGAAAAAGGCATGTCAACCTTTATCAGAGTTACTCTCAACTTCAGACGCTTGCTTCTAGGGCTGCGTTTTAGAACGGGCAGGGCTGAAGAAATAACGTACCTAATCCAAGTAGTACGGCAAGACTTGGCTCTGAGGTTACAGTTTTTACACTGTAAAAGTACGCTTTATAACTAACTAAGAGGCCATGGGCCTAAGTGACTAACAAGACACTGAAACCGAGCCACTTTTTCTCTTTTTTTTTCTTTTCAAATAGAGATGGGGGTTTCTCTATGTCGCCAAGGCTGATAACATAACTCCTGGGCTCAAGTGATTCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCTGAAATTGGGCCACTTTTTATTGGAACTTCAGGAAAGAAATAATGTACACAGACTATAACCAGATGAACGTGCCTTGCCCTAAGACATAATGCAGGATGCTGCTTGACGCTTACCTATTCTGATAGCTGTAGTAGGCAGCATCGCGAGGAATGGTACACAGCTGCTTCCCATAGCAGCACAAAGTCTGTGGGGAAAACTCATACTGCAAAAATAAAGGAGAAATACTTTTATATAAAAATACATTCCATTTACTGTCTTATAATGTTCTAGTCTACTATAGAGACTAGTAAATTATTTCTGTTAGTATATTAGACAGTTTTCTAACAATTTTAGTAGCTTTAAAGACATTTTGGGATAGCATGTGATAGAACTGGCTCTAAGAGACATTCACTACAGACAGGTACCACAGGCAGAGAGGGGCAGCCAGAAACGCTTCCCCATGGCCTCCCTCAGTAAGCGCCTGTACACCCAGCTCTGATCACCCATCACATCGCTTCAGGCATCAACTGTGTCACCAGACAGCAGATTGCACATATGCACTCCCAGTATACAGGCGTGGTCTCATATTAGTATAACACCCCTCTGGCTGGATTAACCAGGAAAATTCACTTTCCGGAAAAACTTAAAACTGTACCTTGCGTCCACAGCAATATCCAAGGGACTGCATGACAGGGTCAATTTCCTGCTCAAAGACCTCTGCAAGCTTACTGCAAAACTTATAGACTCGGGATGTCTTGCGATTATAGAGCCAGGCATTGTTGAACATGAGCCAGACGTCGTCCACGTACTGCCAGGGCTCTTGGTATTGCCCTGTGTCCAGCTTCCGCTTGATGGTGGAGAGGTCCATGGGATTCTTTACGATGTCAAAATAGTCCTTAAAAAAAAAAAAATGGTCTCAGTATAGGGAATCCCCCAATATCCAAATGCCAGTCTCATCTGGCAGCTTTGTTTTAAAATAATAGAAACAGAAAGCACCAAAATAACTTCCATTCCCAACAGTAAGAAATAGGAAATGAAAAGAAAATAACCTCTGACGCAACTGATTTTACTCACTAAAAGTGTAATTAGTATTTTCAGGTATGATCACATTATAATACTCCAAAGGCAAAAGTAAAGAAAAATTGTTAAAAGATACTTCTAACAAAAAATTTTAAAAATAGATCTTTAATCCACTGAATTAAAATAGTGAACAAGTTTATCAAACAGTGTGTATTTCTAGATATTCACTCTTGATCCTAGCAAGCAAAATGAAATTACAAGACAAATATAAACACAAAGCTAGTAATGACTGCTACATAGAATCGGCTGGGTCCCCATGGCCTTTGCAAGGCTATCCAGGAATATAAAAGAGAGAAGCCCAAATATTTTTTTACAGTTCATGTTCACAAATTCTTTCAGACAAAAGTGACACAAGGCCCCAAATATAAAGTGAAGTCTCAGGGGCATGTGCTTCCCTTGCTTCAGTGCACCCCTCCTCCAAGGACCAGGGCTTCATGAACAGGTGAAATCAAACAAAATAAACACTTTCACTGATAACTGTTAACAGACAACAGTTTTTTATATTAGGAGAACAATCTTCAAGGCAGGGGGATTATTTTATCTAATTTCAAGAGATAAAACAATGGACACTCAGAAGTCACACCAGCAAAGTTATAATCTATTTTTATGAATTAACTTACTGGAATTCCGAGGAGCTGGGGATCTACAGGCTGCCGGAAAGGTAATGACTCTGGGTCCTGTCGATACAGTGCTTCTAGGGTTGGCATGAGGGCCTGGCGTAACTCCTCTGGTTTAAAGACTGCAGAGAAAACATCAAGAAAAGACACTTTGTAAAAGGTGCTCAGATCCCTCCTACCTCACATTTAAAACGGAATCCTGGCTGCTGTGACATCCCAGCCACGATGCTCCTAAGGCACTCGAGGGGCTCTCGTCCATCACCGTTAAGGACTAAAGCTTCTGAAAACACACTAGTGTCAGAACTGTGTTCAGCTTGTGAGGCAAAATACAACACTGGGAAGTTTGCTTCTTCCATGAAAGGTTTCCAACATTAAAAACTTGGCTGAAAAAGAAAGTAAAGCTAACTCCCAAATCTGTCTCATTCATCAAACTGGGTGGCAAATAAAGCCATTTCAGGCTGGGCATGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACTGAGGAGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACGTAGTGAAACCTCGTCTCTACTAAACACAAATTTAGCCTGGTGTGTGTCGGGGGTTCCTATAAGCCCCGCTACTCGAGAGGGTGAGAAAGGAAAATTGCTTGAACCCAGGAGACGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGACAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAGACCATTTCATTGGAAGGGACCTTAAAAGATCCTCTGAGTAAAGTTTTTTATCCTTGGCTAAATTAAATTCAGGCCACTGGAGACAAACGGTTTTGAATCTCATAAATGTAAACAGTAATAGAGCTACAAAATAAAGCATTTTTATAAAAAGTTCCATATTGCTTACTCCCACATTTACTAATGCCAATTTCTCCAACCCCTCAGACACCTTACTGCCTACTACACTCTCTGTTTTCACTAATACAAACATAAAATACTGGCTGCCAAATACATTCAAGATGGTACATTCATACAAACCCTCAACAAGTATGGGAACAGGTGCCAGGGAAGCTGTTCGGTGTGGGAGGCCGGCCAGTCAGCAGTCAGCGTGTCACGACCCCACCTGGCTCATGTTCACTCACACAGAGAAGAAACTGGAGGCAAAGATGTCTCAGGCATTCT
TTTTGAGACATTTTTGTGTCAAAAGGATTTTTTTTAAAAATAGGATTTTGATGGGAGTTATTACTTATCTTGAATATGGATTTTTAAAAAAAACATAGAAGAATTAAAACACATAACCATAAAACTCCAAAATTTTCAGGCCTGTGAACAAATAACAAAAAGCCTTCTGTCTTCTTTGAAGTATAGGACATAATTACTCTGACCAAATGAGAGTAAAATAATAAAAAACGCCAAACCCCACTGTTGACGCTTATTATTTGAACCTAAAGACAAAGAACAGGCACAAACCTCTATCTTGGCCACAGAGAATCCAGCTGCTGGCTCATAAAATAGAGGCAACGTCACAGTTTGAGCAAGATTCCTGACCTGTGCCTCCACGCATGGTGCGCTCACACTGCAGCGGCACATGGACACTTACACGCTGCGGTACAGATAAGCTGACTTCTCAAACAACTCCAAAACTACGCAAGCTGTATTTTGTGGGAAACCACAACAAAAAATACTATTCTCACTCTCTACCTATTTTAAGACAGGAGATCTATTCTTTAGCCATCTTCATATTCCAAAAGAATGGCAAGTATTTCTTAAGCAGATCCACCACTCACAAAACCCTGAAATGGCCATCTTATAATAGGAGGCAACAGAATCACATTCTTGAACTCAATTAAAACACCAGATCTCATTTTGTATCGTGCTGCTAGTGTAAAATTTAAAAATAAAGATCATGGACCCTTTTCCTCTGCCTTATAGGAAGCAGCACTCATGCAAGTCTTTCCATGAGACTGATCAGGCCAAATTACCAGGCAAATATTTGCAGGTAGAATAGTAAAATCCACATTTTCTACTCTATGAACATCTTGAAAAAGGCATGTCAACCTTTATCAGAGTTACTCTCAACTTCAGACGCTTGCTTCTAGGGCTGCGTTTTAGAACGGGCAGGGCTGAAGAAATAACGTACCTAATCCAAGTAGTACGGCAAGACTTGGCTCTGAGGTTACAGTTTTTACACTGTAAAAGTACGCTTTATAACTAACTAAGAGGCCATGGGCCTAAGTGACTAACAAGACACTGAAACCGAGCCACTTTTTCTCTTTTTTTTTCTTTTCAAATAGAGATGGGGGTTTCTCTATGTCGCCAAGGCTGATAACATAACTCCTGGGCTCAAGTGATTCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCTGAAATTGGGCCACTTTTTATTGGAACTTCAGGAAAGAAATAATGTACACAGACTATAACCAGATGAACGTGCCTTGCCCTAAGACATAATGCAGGATGCTGCTTGACGCTTACCTATTCTGATAGCTGTAGTAGGCAGCATCGCGAGGAATGGTACACAGCTGCTTCCCATAGCAGCACAAAGTCTGTGGGGAAAACTCATACTGCAAAAATAAAGGAGAAATACTTTTATATAAAAATACATTCCATTTACTGTCTTATAATGTTCTAGTCTACTATAGAGACTAGTAAATTATTTCTGTTAGTATATTAGACAGTTTTCTAACAATTTTAGTAGCTTTAAAGACATTTTGGGATAGCATGTGATAGAACTGGCTCTAAGAGACATTCACTACAGACAGGTACCACAGGCAGAGAGGGGCAGCCAGAAACGCTTCCCCATGGCCTCCCTCAGTAAGCGCCTGTACACCCAGCTCTGATCACCCATCACATCGCTTCAGGCATCAACTGTGTCACCAGACAGCAGATTGCACATATGCACTCCCAGTATACAGGCGTGGTCTCATATTAGTATAACACCCCTCTGGCTGGATTAACCAGGAAAATTCACTTTCCGGAAAAACTTAAAACTGTACCTTGCGTCCACAGCAATATCCAAGGGACTGCATGACAGGGTCAATTTCCTGCTCAAAGACCTCTGCAAGCTTACTGCAAAACTTATAGACTCGGGATGTCTTGCGATTATAGAGCCAGGCATTGTTGAACATGAGCCAGACGTCGTCCACGTACTGCCAGGGCTCTTGGTATTGCCCTGTGTCCGGCTTCCGCTTGATGGTGGAGAGGTCCATGGGATTCTTTACGATGTCAAAATAGTCCTTAAAAAAAAAAAAATGGTCTCAGTATAGGGAATCCCCCAATATCCAAATGCCAGTCTCATCTGGCAGCTTTGTTTTAAAATAATAGAAACAGAAAGCACCAAAATAACTTCCATTCCCAACAGTAAGAAATAGGAAATGAAAAGAAAATAACCTCTGACGCAACTGATTTTACTCACTAAAAGTGTAATTAGTATTTTCAGGTATGATCACATTATAATACTCCAAAGGCAAAAGTAAAGAAAAATTGTTAAAAGATACTTCTAACAAAAAATTTTAAAAATAGATCTTTAATCCACTGAATTAAAATAGTGAACAAGTTTATCAAACAGTGTGTATTTCTAGATATTCACTCTTGATCCTAGCAAGCAAAATGAAATTACAAGACAAATATAAACACAAAGCTAGTAATGACTGCTACATAGAATCGGCTGGGTCCCCATGGCCTTTGCAAGGCTATCCAGGAATATAAAAGAGAGAAGCCCAAATATTTTTTTACAGTTCATGTTCACAAATTCTTTCAGACAAAAGTGACACAAGGCCCCAAATATAAAGTGAAGTCTCAGGGGCATGTGCTTCCCTTGCTTCAGTGCACCCCTCCTCCAAGGACCAGGGCTTCATGAACAGGTGAAATCAAACAAAATAAACACTTTCACTGATAACTGTTAACAGACAACAGTTTTTTATATTAGGAGAACAATCTTCAAGGCAGGGGGATTATTTTATCTAATTTCAAGAGATAAAACAATGGACACTCAGAAGTCACACCAGCAAAGTTATAATCTATTTTTATGAATTAACTTACTGGAATTCCGAGGAGCTGGGGATCTACAGGCTGCCGGAAAGGTAATGACTCTGGGTCCTGTCGATACAGTGCTTCTAGGGTTGGCATGAGGGCCTGGCGTAACTCCTCTGGTTTAAAGACTGCAGAGAAAACATCAAGAAAAGACACTTTGTAAAAGGTGCTCAGATCCCTCCTACCTCACATTTAAAACGGAATCCTGGCTGCTGTGACATCCCAGCCACGATGCTCCTAAGGCACTCGAGGGGCTCTCGTCCATCACCGTTAAGGACTAAAGCTTCTGAAAACACACTAGTGTCAGAACTGTGTTCAGCTTGTGAGGCAAAATACAACACTGGGAAGTTTGCTTCTTCCATGAAAGGTTTCCAACATTAAAAACTTGGCTGAAAAAGAAAGTAAAGCTAACTCCCAAATCTGTCTCATTCATCAAACTGGGTGGCAAATAAAGCCATTTCAGGCTGGGCATGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACTGAGGAGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACGTAGTGAAACCTCGTCTCTACTAAACACAAATTTAGCCTGGTGTGTGTCGGGGGTTCCTATAAGCCCCGCTACTCGAGAGGGTGAGAAAGGAAAATTGCTTGAACCCAGGAGACGGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGACAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAGACCATTTCATTGGAAGGGACCTTAAAAGATCCTCTGAGTAAAGTTTTTTATCCTTGGCTAAATTAAATTCAGGCCACTGGAGACAAACGGTTTTGAATCTCATAAATGTAAACAGTAATAGAGCTACAAAATAAAGCATTTTTATAAAAAGTTCCATATTGCTTACTCCCACATTTACTAATGCCAATTTCTCCAACCCCTCAGACACCTTACTGCCTACTACACTCTCTGTTTTCACTAATACAAACATAAAATACTGGCTGCCAAATACATTCAAGATGGTACATTCATACAAACCCTCAACAAGTATGGGAACAGGTGCCAGGGAAGCTGTTCGGTGTGGGAGGCCGGCCAGTCAGCAGTCAGCGTGTCACGACCCCACCTGGCTCATGTTCACTCACACAGAGAAGAAACTGGAGGCAAAGATGTCTCAGGCATTCT
Task1_train_22295
This variant impacts the gene CREBBP (CREB binding protein) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
Pathogenic; Rubinstein-Taybi syndrome due to CREBBP mutations
TTTTGGTCCCACGAAAGAGCCCCTGTGCCTTACAAGGATCAAAATTGTAAAGGAAGGGGGAAAAGGTGGTTAAGTGTGGAAAATCCTTTCTGATCAACTTATTAAGCATCTGATCATCCAATAATGGACACTACTATGGAAAAAGCTAACCTTTGGGCTCCATCTTGGAAACAGCTGGATGTACATATAAGGACATGCCTTTTTGTTAAGTCTTGTGTTACTAATTGTCCCCCTTTTTAAGACAAAATCTACAACAAATTCATTCAACAACAGCAAAGCTACAAAGCCATCCAGGTTACCAGTTTCAGAAGACAAGCTTCAAAGCTGAACTCGCCACGTATGACCTACGTCTCACAGAACTGAAGACTACTCAAACACAGCAAGATTAATGAAGCAACGGAGATCTGTTTTGCAGTACAACGGCATTTAAACTACTGTTTCCAAATTTCTCACTTCAATAAGTTCATTTTATAAGATTAACGTCAAACTCAACTTTTATCAGCTAAAAAGAAAAGCATTAGTGATTTTTATATACCATGAGCATCATTTACTCCTCCCCACTGTTTAACAAATTTTAACTAGATAAGAATCTCCTTATGATTGATCTTTAAAAATCGCTTTTCACTTCTACATTAATATTAAACGTCGCTTATCATAACTTGATTCCAGGAATTGTATTCAAACTTAAGCCACAAAATTCAGGTTTTGTTTCAACAGCAATAGCAGTTTTTTTTAATATGCTAGTGGTCGGTCACAGAACTATTTCCACAAGTTGAACAGCTGTGTCTAGTGCAAATCTGAAGGCAGCGATGTAATTCAATTTGGACTCATTCATTAGAAACTGATTTTCAGATGCTACCACTGCAAGACTACTGGAGAAATGCAAGCTGCGCTGGAGATGGAATTGTTCGCAGCGGCACACAAGTTTTTGCGGCAAAGGAGAGAGCTCTAAAAGAGGAAATACAACTAGTTCATGTTACCATGAACCAGCGCAGTGGGACCCAGAATTACTGAATTAATAGAAAACTAAATACTTCTCTTAAGCAGCTATGATAACTTAAGAAAGTTTCCAGGGAAGCCGTTTAATGAAAGGAAACAAACAAAAAGATGATTTATTCAGTATCCTGCTCCATTTTTTTGAAAAATTGGAATTCCTACATTCCTTAATTCTTTGTACATCTACACTGTGAAAGCAACACAAACTCAAATGGAGATTGCAGCCCAAATGAACTTAAACCTGCTGTTTAACTTTCTTTTGAAGTTATACATGGAAATGAAACACACCACAGCAACTTTCATGACATCTTGCTAACGAAGTTTGGGTTTTGAAAAATGGAATGACTAGTTGACTAAAAACACACACGCGCGCACACACACACACACACACACACACACAAAACAAGGAGTTTTGAAAATAAGCACTAAGCATCTTTCCAAGGAACTCACTCATTCCAAGAAACTTCGGTTCTAACTCGCAAGCTGGCGGCTGCTGTGAGTGTCCTCTGAATGCAGCCTGGTCAATGTGTCGCCAATCCAGAAAACACACTGCCCTACCTTTGGCCGCGATCTTGCTTTCTCTAAGCATCAAAGGTACCCTCCGCTGTCATTCCTCTGGACGGCCACGCGTGTGGACACGGCCGCGGATGGATGCGTAGGACATTACCAAACAAACCCACACGCTGCACTTTACTTCTTCCCTCCTGGAGTGCCACTAGGGTCCCCGCGAGGAGGGCTGATCGGGTGCGGGGAGGCCGAGTGCACCGGGCGTGTGCTGACCAACTCGGGCCCAGTGACAGTCCTGCGACGAACTTCCACCCTCCCGCGCGGGGCGAGGGGAACGGGCTGCGGGGCCTGCTCCGAGCTCCCGGCTCGATCGGTATCCGCGACCACGACCCCCGGACGCTCTCTTTCAGGTGGGGGTGACAGCGCGCCCCGGGCCCCCGCCGCCCCGGACCCCCTCCTCACCTGTGCTGTCATTCGCCGAGAAACCGGGCGAGCTGAGTTTGGCTCTTTTGGGGTTGGGCGGTCCGTCCAGCAAGTTCTCAGCCATTTTCACCTGCTCGCGAAAACAGCCCCGGGCACGGGCGGCCGGGCCGGCGAGGGCCCGGACGGGGGTCGGGGGCCCTGCCGGCTGCGAGGGAGAGGAGCGAGCGCGGGCCGCGAGCGGGCGGGCGGGCGCCGAGGGAGAGGGAGGGCGCAGGCCGGGTGGGGGAGGCGGCGGCCAAATCTCAGCCACAGCAACAGCGCCCCGCAGCGCTCACCGCCCGCCCCCGGCCGCCGCCGCCGCCGCCGGCCGCGGCCCCCTCATCCCCTGCCCGCCTCCCGAGCGCGACACTCCGCGGTGGGGGCGCCCCGGCGGCCCGGCCGCCCCCCCGGGCCCGGCTGGCAGCGACGGCGCCCGGCCGGGCGGCTCAGGCAGTCCCCGAGAACATGGTGCCGCCGCCGCCGCCGCCTCGCTCCCCCCCCGCGCCCCACTTAATGAATTCGCTCGCGGCCCGACGACGAGGGGGCTCCGGGCTCCGCTCCCGGCCCGCGGCCCGCCGCCGCCGCCGCCGTGAGGAAAAACAATGCGCCGAGCGGGGTCGCCGCCGCCGCCGCGGCCCCCCCACCCCCCGTTCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGCCGGGCTCCGGGAGGCCGAGCCGAGAGGCGAGCGGGGCCGCCGGGGCGGGCGCCGAGGGCCGGGCGGAGCGGGCCGGCCGGGCGGAGCGGGGTGCGCGGGCGGTTGTGGGGCCCGGGACCGGCGGGGCCGAGTAGATCGCGCTCGAAGCCCCGGTCGGGTCCGCGACAAGATGGCGGCTGTTGATTCCTCAATTAAAAAAAAAAGAAAGTTTTTTTTCTTCTCTTTCCAGAGCCTGAACGGGGAGGGGGTGGGGGCGGGGCACGCCGGTGCGTCACCCCCCCGCGGCGTCACCACGCACGGCCCCCGCCCCGCCCCCTCCACCTGCGCCGGCCGTGGCGGAAAGAGCCGAGCGTGCTCGGGCCGAAGGGCTGAAGGCGCGGCCGCCAAGCGTAGGGAAGCTGGCGGCCCGGCGCGGGCCAGGCCTGCGGGGCGCCTGGGCTCCGGGCTGAGCCACAGCTTTTGTTCTGATGGCGACCAGGCGTAGAGGGCCGGGGCTCCGGGCCCCAGCGGGCTCCGGGAGCGGCGGCCTGGCCGCGGGCTGGGCTCTCGGGCGCGGATTCGACGCCAGCCCGGGCCCGCCCGTCCCGCTGGGGCGGCGCTGCGTGTTCCCAGCTCCTCGCGTCCCCTTCCCCAGACCCTCCTAGGTGGCGTCGGTCGGGAACGGTCGGGGCGACCCCAGCCCAGGCCGCGCCACTAGCCTTCGCCGCCGGCCAGGGAAGTGGAATGGCCTCTGCAGGTTACAGACCGCCCTTGGGTCCTGCCGACGAGGTGGGCGGATGGGGAAACTGAGGCGGGGGGCGAGCAACTGCTCCAAAGTGGTCGAGGCAGGAAGTGGCAGGGCCGGGATTCGGGTCCCGCCCTACCTCGTGACACTAGGGAGTGAGGGGGCCTCACGCCTGTTCGCATCCCAAGGCGGCAGGGCAGACACCCTCACCTGTGAGAGCGGGGTGGCGAGGGCCGGCCTGGGCGGAGAAGGGCCCGCGCATCGGGGCTTAAGCCTGGACGCTCAGGCCGCACTCCCCGCCCCAGGCAACTTGCCTGGCGCCTCGCAGGTGCCCCAGACAGGGGTGCGGGCCTGGGGAGTCCCCCACGCGAGACCACAGCCCGCGGGACACTTCTACGAATACCCGAGGTGTTCCCATCCCAGTTAGTTATCTGCCCCTCCAAACTTGCCCGGCTTCCTCATAAAGGTATCAGCAGCTCCACTGTTTCCTAAGCCAGAAACCCGTGAGTCAGCGCGGACTCCTCCCTCTCACCCGCCACGCGCCCCTCTACCCACGGTCTTTACCTGGGAGACTGCTCCTCCCGCACTGTCCCGGTGGCTATGGTGGCAGCTACTCACTTAAGTGTTCTTTGCTCTCCACGTTGCTCCCCACGCAGCACCAGAGTTAACATCCCGAAAAGAGAGGGAGAAAATCTGTTTAAAACAACTCCCTGGCCAG
TTTTGGTCCCACGAAAGAGCCCCTGTGCCTTACAAGGATCAAAATTGTAAAGGAAGGGGGAAAAGGTGGTTAAGTGTGGAAAATCCTTTCTGATCAACTTATTAAGCATCTGATCATCCAATAATGGACACTACTATGGAAAAAGCTAACCTTTGGGCTCCATCTTGGAAACAGCTGGATGTACATATAAGGACATGCCTTTTTGTTAAGTCTTGTGTTACTAATTGTCCCCCTTTTTAAGACAAAATCTACAACAAATTCATTCAACAACAGCAAAGCTACAAAGCCATCCAGGTTACCAGTTTCAGAAGACAAGCTTCAAAGCTGAACTCGCCACGTATGACCTACGTCTCACAGAACTGAAGACTACTCAAACACAGCAAGATTAATGAAGCAACGGAGATCTGTTTTGCAGTACAACGGCATTTAAACTACTGTTTCCAAATTTCTCACTTCAATAAGTTCATTTTATAAGATTAACGTCAAACTCAACTTTTATCAGCTAAAAAGAAAAGCATTAGTGATTTTTATATACCATGAGCATCATTTACTCCTCCCCACTGTTTAACAAATTTTAACTAGATAAGAATCTCCTTATGATTGATCTTTAAAAATCGCTTTTCACTTCTACATTAATATTAAACGTCGCTTATCATAACTTGATTCCAGGAATTGTATTCAAACTTAAGCCACAAAATTCAGGTTTTGTTTCAACAGCAATAGCAGTTTTTTTTAATATGCTAGTGGTCGGTCACAGAACTATTTCCACAAGTTGAACAGCTGTGTCTAGTGCAAATCTGAAGGCAGCGATGTAATTCAATTTGGACTCATTCATTAGAAACTGATTTTCAGATGCTACCACTGCAAGACTACTGGAGAAATGCAAGCTGCGCTGGAGATGGAATTGTTCGCAGCGGCACACAAGTTTTTGCGGCAAAGGAGAGAGCTCTAAAAGAGGAAATACAACTAGTTCATGTTACCATGAACCAGCGCAGTGGGACCCAGAATTACTGAATTAATAGAAAACTAAATACTTCTCTTAAGCAGCTATGATAACTTAAGAAAGTTTCCAGGGAAGCCGTTTAATGAAAGGAAACAAACAAAAAGATGATTTATTCAGTATCCTGCTCCATTTTTTTGAAAAATTGGAATTCCTACATTCCTTAATTCTTTGTACATCTACACTGTGAAAGCAACACAAACTCAAATGGAGATTGCAGCCCAAATGAACTTAAACCTGCTGTTTAACTTTCTTTTGAAGTTATACATGGAAATGAAACACACCACAGCAACTTTCATGACATCTTGCTAACGAAGTTTGGGTTTTGAAAAATGGAATGACTAGTTGACTAAAAACACACACGCGCGCACACACACACACACACACACACACACAAAACAAGGAGTTTTGAAAATAAGCACTAAGCATCTTTCCAAGGAACTCACTCATTCCAAGAAACTTCGGTTCTAACTCGCAAGCTGGCGGCTGCTGTGAGTGTCCTCTGAATGCAGCCTGGTCAATGTGTCGCCAATCCAGAAAACACACTGCCCTACCTTTGGCCGCGATCTTGCTTTCTCTAAGCATCAAAGGTACCCTCCGCTGTCATTCCTCTGGACGGCCACGCGTGTGGACACGGCCGCGGATGGATGCGTAGGACATTACCAAACAAACCCACACGCTGCACTTTACTTCTTCCCTCCTGGAGTGCCACTAGGGTCCCCGCGAGGAGGGCTGATCGGGTGCGGGGAGGCCGAGTGCACCGGGCGTGTGCTGACCAACTCGGGCCCAGTGACAGTCCTGCGACGAACTTCCACCCTCCCGCGCGGGGCGAGGGGAACGGGCTGCGGGGCCTGCTCCGAGCTCCCGGCTCGATCGGTATCCGCGACCACGACCCCCGGACGCTCTCTTTCAGGTGGGGGTGACAGCGCGCCCCGGGCCCCCGCCGCCCCGGACCCCCTCCTCACCTGTGCTGTCATTCGCCGAGAAACCGGGCGAGCTGAGTTTGGCTCTTTTGGGGTTGGGCGGTCCGTCCAGCAAGTTCTCAGCCTTTTTCACCTGCTCGCGAAAACAGCCCCGGGCACGGGCGGCCGGGCCGGCGAGGGCCCGGACGGGGGTCGGGGGCCCTGCCGGCTGCGAGGGAGAGGAGCGAGCGCGGGCCGCGAGCGGGCGGGCGGGCGCCGAGGGAGAGGGAGGGCGCAGGCCGGGTGGGGGAGGCGGCGGCCAAATCTCAGCCACAGCAACAGCGCCCCGCAGCGCTCACCGCCCGCCCCCGGCCGCCGCCGCCGCCGCCGGCCGCGGCCCCCTCATCCCCTGCCCGCCTCCCGAGCGCGACACTCCGCGGTGGGGGCGCCCCGGCGGCCCGGCCGCCCCCCCGGGCCCGGCTGGCAGCGACGGCGCCCGGCCGGGCGGCTCAGGCAGTCCCCGAGAACATGGTGCCGCCGCCGCCGCCGCCTCGCTCCCCCCCCGCGCCCCACTTAATGAATTCGCTCGCGGCCCGACGACGAGGGGGCTCCGGGCTCCGCTCCCGGCCCGCGGCCCGCCGCCGCCGCCGCCGTGAGGAAAAACAATGCGCCGAGCGGGGTCGCCGCCGCCGCCGCGGCCCCCCCACCCCCCGTTCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGCCGGGCTCCGGGAGGCCGAGCCGAGAGGCGAGCGGGGCCGCCGGGGCGGGCGCCGAGGGCCGGGCGGAGCGGGCCGGCCGGGCGGAGCGGGGTGCGCGGGCGGTTGTGGGGCCCGGGACCGGCGGGGCCGAGTAGATCGCGCTCGAAGCCCCGGTCGGGTCCGCGACAAGATGGCGGCTGTTGATTCCTCAATTAAAAAAAAAAGAAAGTTTTTTTTCTTCTCTTTCCAGAGCCTGAACGGGGAGGGGGTGGGGGCGGGGCACGCCGGTGCGTCACCCCCCCGCGGCGTCACCACGCACGGCCCCCGCCCCGCCCCCTCCACCTGCGCCGGCCGTGGCGGAAAGAGCCGAGCGTGCTCGGGCCGAAGGGCTGAAGGCGCGGCCGCCAAGCGTAGGGAAGCTGGCGGCCCGGCGCGGGCCAGGCCTGCGGGGCGCCTGGGCTCCGGGCTGAGCCACAGCTTTTGTTCTGATGGCGACCAGGCGTAGAGGGCCGGGGCTCCGGGCCCCAGCGGGCTCCGGGAGCGGCGGCCTGGCCGCGGGCTGGGCTCTCGGGCGCGGATTCGACGCCAGCCCGGGCCCGCCCGTCCCGCTGGGGCGGCGCTGCGTGTTCCCAGCTCCTCGCGTCCCCTTCCCCAGACCCTCCTAGGTGGCGTCGGTCGGGAACGGTCGGGGCGACCCCAGCCCAGGCCGCGCCACTAGCCTTCGCCGCCGGCCAGGGAAGTGGAATGGCCTCTGCAGGTTACAGACCGCCCTTGGGTCCTGCCGACGAGGTGGGCGGATGGGGAAACTGAGGCGGGGGGCGAGCAACTGCTCCAAAGTGGTCGAGGCAGGAAGTGGCAGGGCCGGGATTCGGGTCCCGCCCTACCTCGTGACACTAGGGAGTGAGGGGGCCTCACGCCTGTTCGCATCCCAAGGCGGCAGGGCAGACACCCTCACCTGTGAGAGCGGGGTGGCGAGGGCCGGCCTGGGCGGAGAAGGGCCCGCGCATCGGGGCTTAAGCCTGGACGCTCAGGCCGCACTCCCCGCCCCAGGCAACTTGCCTGGCGCCTCGCAGGTGCCCCAGACAGGGGTGCGGGCCTGGGGAGTCCCCCACGCGAGACCACAGCCCGCGGGACACTTCTACGAATACCCGAGGTGTTCCCATCCCAGTTAGTTATCTGCCCCTCCAAACTTGCCCGGCTTCCTCATAAAGGTATCAGCAGCTCCACTGTTTCCTAAGCCAGAAACCCGTGAGTCAGCGCGGACTCCTCCCTCTCACCCGCCACGCGCCCCTCTACCCACGGTCTTTACCTGGGAGACTGCTCCTCCCGCACTGTCCCGGTGGCTATGGTGGCAGCTACTCACTTAAGTGTTCTTTGCTCTCCACGTTGCTCCCCACGCAGCACCAGAGTTAACATCCCGAAAAGAGAGGGAGAAAATCTGTTTAAAACAACTCCCTGGCCAG
Task1_train_22296
This sequence variant lies in GLIS2 (GLIS family zinc finger 2) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Nephronophthisis
AAGGTTCCTACCTGCCCGTCTGACAGGGACCCAGGGGCCCTGGGTTCGAGTCCTGTTCTGTTATTAACCCTGCGTGCCAGACCATTCCCGTCTGCAAAGCGGGCACTTCCCCCCTCCCCGGCTCACGGGGGCCAAGCTCTGGCGGCTGGTAAAGCTCAGAGGTGGTGGGTGGTGTCACACACCTGTCAGCTCCACAGGCTGCTCCTCACATTCGTGTGGTCTGGGGGCATGGCTGGTGTCTGCTCCCAAGGTCACAGTGGGGGTTCGGAGGCAGGAGTACCTGGCCCACTGGGACTCTACACTCCAGCACACCCTGAACTGTGCCTCTCCCTCAGGCTTCCTGCTGAACTCCAAGTTCCCCGAGAAGGTGGAGGGACGCTTTTCAGCAGCCCCTCTCGTGGACCTCAGCCTGTCACCACCATCTGGGCTGGACTCCCCCAATGGCAGCAGCTCGCTGTCCCCCGAGCGCCAGGGCAACGGGGACCTGCCTCCAGTGCCCAGTGCCTCGGTAAGGAGGGGTGAGAGTTCCGGAGAGAGGGGTGGACTGGTTTCCTGGGGTTGCCATGACAAAGTACCCCAACACTGAGTGGTTTAAAAAACAGATGTGTTACCCCTCATAATTCTGGAGGCTGGAGTCTACCTGGAAGGCTCTAGGGGAGAACCTTCCCTGCCTCTCTCCTGCCTTCTGGCAGCTTCTGGAAATGCCTGGCACTCTAGCCTGGTAGCTGCTTCACTCCAGGCTCTGCCCTGTCTTCACACGGTCTTTGTCCCTCTGTGTCCGAATCTCTCTCTGGTTTCTCTTATAAAGACACCAGTCATGGCCGGGCACGGTGGCTCACACCTGTAACCCCAGCACTTTAGGAGGCTAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACTAGCCTGGGCAACATAGCAAGACCCCATCTCTATTTATTTTTTTGAGACAGAGTCTTGCTTCATTGCCCAGGCTGGAGGCCAGTGGCCCGGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCTGGGACTACAGGTACACACCATCACACCTGGCTACTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAACTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTTTTTTTTTTTTTTTTTTAAACAGGGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAATAGCTGAGATTACAGGCATGTGCCATCACGCCTGGCTAATTTTTGTATTTTTAGCAGACATGGGGTTTCACCATATTGGCCAGGCTGATCTTGAACTCCTGACGTCAAGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCACCTGGCTATATATTTTTTTTAATTAAGAAAATAAAAATTTAAAACACACCAGTCACTGGGTGTTGGGCCCACCCTAATCTAGTGTGACCTCATGTTAACTTGATTACATCTGCAAAGATCCTAGTTCCAAATAAGGCCACATGCACAGGTAGGGGCTGGGGAGAAGAGGACCTGAATGTCTCTGTTTGGGGACACCATTCAGTCCACTACCGATGGGACGGGGGGCTCTGGGCCAGCAGGACCTTGACTAGCCCTCCCCTCGCACCCCAGGACTTCCAGCCACTGCGCTATTTGGATGGTGTCCCCAGCTCCTTCCAGTTCTTCCTGCCCCTCGGCTCCGGGGGGGCCCTGCACCTGCCTGCCTCCTCCTTCCTTACCCCTCCCAAGGACAAGTGCCTCTCGCCAGACCTGCCCCTGCCCAAGCAGCTGGTGTGTCGCTGGGCCAAGGTGAGTGGGGGCCAGCAAGAGTAGTGTGGAGTCTGGGGCAGGTCACCCCGCATGGGCTCAGAACACTTCCCATCCTCCGCAGTGTAACCAGCTCTTTGAGCTCCTGCAAGACCTGGTGGACCATGTCAACGATTACCATGTCAAGCCCGAGAAGGATGCGGGGTACTGCTGCCACTGGGAGGGCTGCGCCCGCCATGGCCGAGGTTTCAACGCCAGGTGAGGTGGGGGAGAGAGGGGTAGAGGGAGGACTGGGGTCTCCAGTGAGCTGAGCCGTGCCCCCCGCCCTCCCTGGAGCAGGTACAAGATGCTCATCCACATCCGCACACACACCAACGAGAAGCCACACCGCTGTCCGACCTGCAGCAAGAGCTTCTCCCGCCTGGAGAACCTGAAGATCCACAACCGGTCGCACACAGGTAAGAGGCCGGGGCCGGGCGGCTTGGCCCATGAAGGGGGCGCTCAGCTGAGACCGGCTGGGCAGGTCCCCAGGGGGAGGGGACTGTTAAGTAAATCCCGGGCCTCAGAGATAAGGGTTGATGTCATCGCCCAGGGGTCCCTTTTCCAATGCAGTTTGCTAGGGGAAGCATCCCCTGGGGGTCAGACCCCCACCCAGCACCTGCTCTTGGAGCACCAATGCCATTTCCTGGTTCCCGTGGGTATCTTCTGACTAATGCCACCTCTGTGATCGCAGAGGCCAGGTCGGCTTCACTCCTCACTACAGCCCAGGCCCATACCAGGACAGCTCTGGTTGTCAGAGCCACAGACATAATTTTACATTTCCTAATCGCTGCATAAAACACAGCAAAAATAAATGGGTGAAATTAATTGTAATATGGTTCGTTGACCCCGGTACATCCAACGTGTTATCAATTCATTATTAAAGACAAATCAGTGAGATATTGAAGTTCTTCATTTCATGACAAAGCCTCAAGGAGCTGATGTGTATGTTTTTTCCTGGTGTTTATTTCACCCTGGCAGCACATCTCCAGGTGGAGAGCCATGTATCAGGAGGTCAGTCACTACATGTGGCCCCCTGCTCTGGCCAGGGCAGCAGAAGATGCCTGGTGAACCTTCAGCCATTTGTTGAGTGAGGGCAGTAGCGCCCAGGCAGCACTCCCTGTGGCCAGGCCCACGCTGGGCGCCTCGTGCCAGGATGTGATCTCCAAGGCCATGGTGTCTTTTTTTTCTTGAGACAGACTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCCCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTGAGGTAGCTGGGATTACAGGCACCTGCCACCACACCCAGCTAGTTTTCGTAGTTTTAGTAGAGACGGGGTCTCACCATGTTGGCCCTGCTGGTCTGGAACTCCTGGCCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAAATTACAGGCGTGAGCCACCGGGCCCGGCCTCCAAGGCCATGTTCTGCTGCTGAAAGGCACATCCTCTGTAGCAGAGGGTGCAGGGCGAGGCTAGGCAGAGCTGGAGTCAACCAGGCTGAGTTTTCAGCCTCTGTGCCCTGCCTGGGGGCAGATCTCATGCCATGTGCTGGGGATGCCCCCTGCCCCCAGAATTGGGGCATCTATGTTCCCAGGGAGTGCTTGGCCCGGGGAAATGTTGAGTGCATGGGGTGAGACCCAGGAAGGGGAGAGACCCCTCATGGCGGCACTGCACTGCACCACCCTGCAGGTGAGAAGCCCTACGTCTGCCCCTACGAGGGCTGCAACAAGCGCTATTCCAACTCCAGTGACCGCTTTAAGCACACGCGCACCCACTATGTGGACAAGCCCTACTACTGCAAGATGCCCGGCTGCCACAAGCGCTACACGGACCCCAGCTCACTGCGCAAGCACATCAAGGCCCATGGCCACTTTGTGTCCCACGAGCAGCAAGAGCTCCTGCAGCTGCGCCCACCCCCCAAGCCGCCACTGCCCGCCCCCGACGGCGGCCCCTATGTCAGTGGGGCCCAGATCATCATCCCCAACCCAGCTGCCCTCTTTGGAGGCCCTGGCCTGCCCGGCTTACCCCTACCCCTGGCCCCCGGCCCCCTTGACCTCAGTGCCCTGGCCTGT
AAGGTTCCTACCTGCCCGTCTGACAGGGACCCAGGGGCCCTGGGTTCGAGTCCTGTTCTGTTATTAACCCTGCGTGCCAGACCATTCCCGTCTGCAAAGCGGGCACTTCCCCCCTCCCCGGCTCACGGGGGCCAAGCTCTGGCGGCTGGTAAAGCTCAGAGGTGGTGGGTGGTGTCACACACCTGTCAGCTCCACAGGCTGCTCCTCACATTCGTGTGGTCTGGGGGCATGGCTGGTGTCTGCTCCCAAGGTCACAGTGGGGGTTCGGAGGCAGGAGTACCTGGCCCACTGGGACTCTACACTCCAGCACACCCTGAACTGTGCCTCTCCCTCAGGCTTCCTGCTGAACTCCAAGTTCCCCGAGAAGGTGGAGGGACGCTTTTCAGCAGCCCCTCTCGTGGACCTCAGCCTGTCACCACCATCTGGGCTGGACTCCCCCAATGGCAGCAGCTCGCTGTCCCCCGAGCGCCAGGGCAACGGGGACCTGCCTCCAGTGCCCAGTGCCTCGGTAAGGAGGGGTGAGAGTTCCGGAGAGAGGGGTGGACTGGTTTCCTGGGGTTGCCATGACAAAGTACCCCAACACTGAGTGGTTTAAAAAACAGATGTGTTACCCCTCATAATTCTGGAGGCTGGAGTCTACCTGGAAGGCTCTAGGGGAGAACCTTCCCTGCCTCTCTCCTGCCTTCTGGCAGCTTCTGGAAATGCCTGGCACTCTAGCCTGGTAGCTGCTTCACTCCAGGCTCTGCCCTGTCTTCACACGGTCTTTGTCCCTCTGTGTCCGAATCTCTCTCTGGTTTCTCTTATAAAGACACCAGTCATGGCCGGGCACGGTGGCTCACACCTGTAACCCCAGCACTTTAGGAGGCTAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAAACTAGCCTGGGCAACATAGCAAGACCCCATCTCTATTTATTTTTTTGAGACAGAGTCTTGCTTCATTGCCCAGGCTGGAGGCCAGTGGCCCGGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGCTGGGACTACAGGTACACACCATCACACCTGGCTACTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAACTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTTTTTTTTTTTTTTTTTTAAACAGGGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAATAGCTGAGATTACAGGCATGTGCCATCACGCCTGGCTAATTTTTGTATTTTTAGCAGACATGGGGTTTCACCATATTGGCCAGGCTGATCTTGAACTCCTGACGTCAAGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCACCTGGCTATATATTTTTTTTAATTAAGAAAATAAAAATTTAAAACACACCAGTCACTGGGTGTTGGGCCCACCCTAATCTAGTGTGACCTCATGTTAACTTGATTACATCTGCAAAGATCCTAGTTCCAAATAAGGCCACATGCACAGGTAGGGGCTGGGGAGAAGAGGACCTGAATGTCTCTGTTTGGGGACACCATTCAGTCCACTACCGATGGGACGGGGGGCTCTGGGCCAGCAGGACCTTGACTAGCCCTCCCCTCGCACCCCAGGACTTCCAGCCACTGCGCTATTTGGATGGTGTCCCCAGCTCCTTCCAGTTCTTCCTGCCCCTCGGCTCCGGGGGGGCCCTGCACCTGCCTGCCTCCTCCTTCCTTACCCCTCCCAAGGACAAGTGCCTCTCGCCAGACCTGCCCCTGCCCAAGCAGCTGGTGTGTCGCTGGGCCAAGGTGAGTGGGGGCCAGCAAGAGTAGTGTGGAGTCTGGGGCAGGTCACCCCGCATGGGCTCAGAACACTTCCCATCCTCCGCAGCGTAACCAGCTCTTTGAGCTCCTGCAAGACCTGGTGGACCATGTCAACGATTACCATGTCAAGCCCGAGAAGGATGCGGGGTACTGCTGCCACTGGGAGGGCTGCGCCCGCCATGGCCGAGGTTTCAACGCCAGGTGAGGTGGGGGAGAGAGGGGTAGAGGGAGGACTGGGGTCTCCAGTGAGCTGAGCCGTGCCCCCCGCCCTCCCTGGAGCAGGTACAAGATGCTCATCCACATCCGCACACACACCAACGAGAAGCCACACCGCTGTCCGACCTGCAGCAAGAGCTTCTCCCGCCTGGAGAACCTGAAGATCCACAACCGGTCGCACACAGGTAAGAGGCCGGGGCCGGGCGGCTTGGCCCATGAAGGGGGCGCTCAGCTGAGACCGGCTGGGCAGGTCCCCAGGGGGAGGGGACTGTTAAGTAAATCCCGGGCCTCAGAGATAAGGGTTGATGTCATCGCCCAGGGGTCCCTTTTCCAATGCAGTTTGCTAGGGGAAGCATCCCCTGGGGGTCAGACCCCCACCCAGCACCTGCTCTTGGAGCACCAATGCCATTTCCTGGTTCCCGTGGGTATCTTCTGACTAATGCCACCTCTGTGATCGCAGAGGCCAGGTCGGCTTCACTCCTCACTACAGCCCAGGCCCATACCAGGACAGCTCTGGTTGTCAGAGCCACAGACATAATTTTACATTTCCTAATCGCTGCATAAAACACAGCAAAAATAAATGGGTGAAATTAATTGTAATATGGTTCGTTGACCCCGGTACATCCAACGTGTTATCAATTCATTATTAAAGACAAATCAGTGAGATATTGAAGTTCTTCATTTCATGACAAAGCCTCAAGGAGCTGATGTGTATGTTTTTTCCTGGTGTTTATTTCACCCTGGCAGCACATCTCCAGGTGGAGAGCCATGTATCAGGAGGTCAGTCACTACATGTGGCCCCCTGCTCTGGCCAGGGCAGCAGAAGATGCCTGGTGAACCTTCAGCCATTTGTTGAGTGAGGGCAGTAGCGCCCAGGCAGCACTCCCTGTGGCCAGGCCCACGCTGGGCGCCTCGTGCCAGGATGTGATCTCCAAGGCCATGGTGTCTTTTTTTTCTTGAGACAGACTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCCCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTGAGGTAGCTGGGATTACAGGCACCTGCCACCACACCCAGCTAGTTTTCGTAGTTTTAGTAGAGACGGGGTCTCACCATGTTGGCCCTGCTGGTCTGGAACTCCTGGCCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAAATTACAGGCGTGAGCCACCGGGCCCGGCCTCCAAGGCCATGTTCTGCTGCTGAAAGGCACATCCTCTGTAGCAGAGGGTGCAGGGCGAGGCTAGGCAGAGCTGGAGTCAACCAGGCTGAGTTTTCAGCCTCTGTGCCCTGCCTGGGGGCAGATCTCATGCCATGTGCTGGGGATGCCCCCTGCCCCCAGAATTGGGGCATCTATGTTCCCAGGGAGTGCTTGGCCCGGGGAAATGTTGAGTGCATGGGGTGAGACCCAGGAAGGGGAGAGACCCCTCATGGCGGCACTGCACTGCACCACCCTGCAGGTGAGAAGCCCTACGTCTGCCCCTACGAGGGCTGCAACAAGCGCTATTCCAACTCCAGTGACCGCTTTAAGCACACGCGCACCCACTATGTGGACAAGCCCTACTACTGCAAGATGCCCGGCTGCCACAAGCGCTACACGGACCCCAGCTCACTGCGCAAGCACATCAAGGCCCATGGCCACTTTGTGTCCCACGAGCAGCAAGAGCTCCTGCAGCTGCGCCCACCCCCCAAGCCGCCACTGCCCGCCCCCGACGGCGGCCCCTATGTCAGTGGGGCCCAGATCATCATCCCCAACCCAGCTGCCCTCTTTGGAGGCCCTGGCCTGCCCGGCTTACCCCTACCCCTGGCCCCCGGCCCCCTTGACCTCAGTGCCCTGGCCTGT
Task1_train_22297
A mutation on Chromosome 16 affecting CORO7-PAM16, PAM16 (CORO7-PAM16 readthrough| presequence translocase associated motor 16) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Autosomal recessive spondylometaphyseal dysplasia, Megarbane type
CTGAGTGGCCAGGCCCTTCCACCTCCCCATCTGTAAAACGAGGCAGCTGCCCGGACAGCCTTGGGGTCCTTAGTGGCCCTGCAGGTCCTCTGGCAGCTCTGCTGACCCCACCCTCTCCCGGACTGCCCTTCTGTCCCAGAGGGGTCACCCTGACCCGGCCCACCTTGCCACTGGGCTTTGGACTCCAGCCCTGACAGGGCCCAGCCACACTGGCTCTGCCCCTCGAAGGGGCTATGAGCAAGGTAGGAGGGAGCTGGTCTCCTTTCTTCGGGCCCCACCCAGGCCCTGAGCACCCCCCACCCCTGTGAGGGCCCCAGGCCTTAAGTCCCTGGCGGGGTCATGGGTTTGCGACTTGAGCAGAGCGGAGGAACAGGGCACTGGAAGGCCGACGAGCTCAGCATGCGACTCGGTGACGGACCAGGCTCGGCAGGGCCGGTGTACTTTTTGTGGTTGTCATTGGTGTGTTGTTGCACATTCCAGGACGTCAGTATTTTAACAGGTTCTAAGTGCCTTTCTATCGTAGCTTATGTTTTCCTCCTCTTGGCTCCATTGCTGTTAGCATAGAGTTTTAAAAAAAGAGATAAGCTAATGACTATAACAATATATTCCTCCATGGGAGAGGAAGTTTATAAAGAAACAATAAAAGTGAGTTGCAAAGATGGCTTGTATGTCGTGGATGTGCCAGGAACCCGGCCCTGACATGAGGCCACCACTGCCCTGAGCCCCTGCAGGCCTGATCCGGGCTTTCTCCCCGACCCTGCAGGTGCCCCTCCCTCTCAATCTGCCGCTTAGAGCAGGAACTGGAAGGTTGGGAAGGAGGTAGGTGCTGAGGGCGCACAGGTGACAGGAACTGAGACAGAAGATTCCAGGCGGAGCATCCCAAGGTCCAAGTCCTCAGCCCACTACTGCCCGCTGCGGCTTTGGAGAGTGGTGGGCAAAGGCCCTTCTCCCCCCAGCCACATTCTGGGGTACTGTGCCCAGATTACTGAGGTGCTAGGTTCAAACCTGCCCCAGGGACAGGGTGGCTGCCGACAAGAGCTCTGGGGCCAGGAGACCGCCACCCCGTGGGAGGGGCAGGGGCGCTATGGGAGGGAGCCTCACCCTGGCACGGGTGCTGTGGAAGCAGGAGCGGCTGCATCCTGTACGTGACAGGACTCAGCTGGAGCCCACTGGCTGGCTGCCCGCCAACCTTACCCAGCCCGGCCCTTCTGGGCTGTTAAAGGCTGCTGCCTCCCCATCTCCAGCACCCACAGCCCTGCAACCGGCAGGAGGAGCAACCTGCCTTCTGGAATCTGGACACATGCAAACGAGAAATGCAGAAAAGAAATTTATTACCAAGCTATAAATTAGAGGCGGCGGGGTGGGCGGGGGGAGCCGAGCAGTCACGTATGGGGCATCTGCCCTTTTTCTCTGTCCTCCTGGGCCTGGATTTTGAGTTCCTCATCCAGGCGCTCCTTTGCGCGGACCACCTAGTGGGTCACGGATAATCAGGCCGGGAGGCCAAGCCTCCGCCCCATACCCCTTGCCCACATGGGATGGCCTATTCCCATCAGCCCAGGTCCATTTTTTGAAGGGCAGTGGGTGGATACCAATGCTTCCTTCAGTGGCACCCCAGGGTCGGGGTGGCCTGGGGAGACAGAGCTGGGCTGCAGGGCCCAGCGCATGCTGTGACCTCTGTGAGCTGAGAGCTGTTTCTAGCACCCCACCCACGGGGGCTCCTGCTCCTTCGAAGTCCCAGCTGCTGGGAGGGAGGGCTCTATCTGGGGTGACACAGCCTGAGTGGCTGGACCCCGCAAAGCTGAAGCAGTCAGAGGGGTGGCAGTTCAGGGGGCCTCCCTGAGGCTGGGGCACCATGGGAAAGCCTGGCACAGTTTTCTGTGTGCCAAGCCCTTAGCTGGCCAGCTCCCCCAACTAGGAATTGAGCCCCAGGTGAGAAGAAGGGGTCCCATGACTTCATTCCTCCCAGAATCAAAGACCACTCACCTTTGACTGCAGGTAGAAGGAGCCACCCACGGATTTATCATTCACCTTAAATAAGTGTTCATAGTTCTGCAGAGGAGAGGGGACGGGTGAGAGGGCTGCAGACTGCAGGCAAGAGATGTTGGGCAGGCTATGTGGGGCCACGTGAGAGAGGCAACAGGACTCCTCTCCACCCTGTGTGCCACACCCAGCTGTTGTGGCCACTGAGAGGCAGAGATGGGGACGGGTACCCTGGAGGGCAACTGAGCTGCTACTGGAAGGCACTCTTTGTCTCTAGACTGTCCTGCCTCAGGCCTAAAACTTCACGAGCAACAGTGGCTCCCGAAAGTTGGAGTCCGAGCTGGGTGCAGCTGCAGCCTCCACATCGGACCTCCCTGGCCAGGCCTCCCTTCACTCTTCCCACCCTGGCAGCCTCTCCCTCTCAAACTTTGGGGTGGCCCAGTGGCCTCACCTTCTGGACCTCCTCAGGGCTCAGCTTGGACACGTTGAGAATCTGCTGTGCCTCCTGGAGGCTGAGGCCGGAGAGGTTGGAAGCGGCTGCAGACCGGTGTCCAGCGCGTCCTCGGGCATCAGCTGCGGCCCGGCTGGCTGTGTGGACATGTGGGTGATCGCTCAGTCCTCAGCAGCCCACACTTCACCCTGGGCCTTCCGAGTTGGTGGCTCACCCCTGCCACCAGCACAGGATGAGAGACACAGGGACAGGTGGCTAGGAGCTGCCTCTTCTCCAGGAGTGGTTTCCTTTTTAGGGGGTAGAGGCTGGGAAAGTGAGGACAGACGTGCCTCACTGGAGGGTAAGGGCAGGATCTGACCGCTAATCCTGGCTCCTGGTCCCCAACCTAGACCATGAGATGACCCTGTCCCCCAACCCCCATATCCCAGGGGAACAGCAAATTGGGGAGCTTTAGGCTACGATGGAGACTGTATAGTGGGGCTGCGGGCATGAGAGGGCTCTGCAGGGGCCCAGCTGCCCACCTGTCACCTAGACCACCAAAGCCACTGCCTTGGGTGACCTCTCCCCTTTCAGTGACCCCAGAACCTAGAATCAGGAGCTGCTAAACTTTTCCTAAAGGCTCAGAGAGTAGCTATTTTAGGCTTTGCGGGCTAATGAGCCTACACTGGAACCATTCAACTCTGCCTTGAAAGCAGCCTGTCGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAAAATGATGAAAACCTGTAAAATACAAAATTACTAAAAATACAAAAATCAGCTGGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTGGAGAGGCTGAGGCAGGAGCATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACACAGTGAGACTCCGTCTCAAAAGAAAACAAAAGGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGTACTTCAGGAGGCCGAGGTGGGCATATCACGTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACTATTGCACTCCAGCCTGGGCAACAAGAGCGAAAACTCCGTCTCAAAAAAAAAAGATTTATTTACAAAACCAGGGCCGGGCGCTGTGGCTCACACCTGTAATCCCAGCACTTTGAGGCAGGCGGATCACCTGAAGTCAGGCGTTCCAGACCAGCATGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGTATGGTGTCGGGTGCTTGTATTCCCAGCTACTCAGGAGGCTGAGGGAGGAGAATCACTTGAACCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCCCCACTGCATTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCCAAAAAAAGAAAAAACAAGTTTACAAAATCAGGTATCCAGATGGGCCAGTGTGCCAGCTCCTGCCCTGGATGCTC
CTGAGTGGCCAGGCCCTTCCACCTCCCCATCTGTAAAACGAGGCAGCTGCCCGGACAGCCTTGGGGTCCTTAGTGGCCCTGCAGGTCCTCTGGCAGCTCTGCTGACCCCACCCTCTCCCGGACTGCCCTTCTGTCCCAGAGGGGTCACCCTGACCCGGCCCACCTTGCCACTGGGCTTTGGACTCCAGCCCTGACAGGGCCCAGCCACACTGGCTCTGCCCCTCGAAGGGGCTATGAGCAAGGTAGGAGGGAGCTGGTCTCCTTTCTTCGGGCCCCACCCAGGCCCTGAGCACCCCCCACCCCTGTGAGGGCCCCAGGCCTTAAGTCCCTGGCGGGGTCATGGGTTTGCGACTTGAGCAGAGCGGAGGAACAGGGCACTGGAAGGCCGACGAGCTCAGCATGCGACTCGGTGACGGACCAGGCTCGGCAGGGCCGGTGTACTTTTTGTGGTTGTCATTGGTGTGTTGTTGCACATTCCAGGACGTCAGTATTTTAACAGGTTCTAAGTGCCTTTCTATCGTAGCTTATGTTTTCCTCCTCTTGGCTCCATTGCTGTTAGCATAGAGTTTTAAAAAAAGAGATAAGCTAATGACTATAACAATATATTCCTCCATGGGAGAGGAAGTTTATAAAGAAACAATAAAAGTGAGTTGCAAAGATGGCTTGTATGTCGTGGATGTGCCAGGAACCCGGCCCTGACATGAGGCCACCACTGCCCTGAGCCCCTGCAGGCCTGATCCGGGCTTTCTCCCCGACCCTGCAGGTGCCCCTCCCTCTCAATCTGCCGCTTAGAGCAGGAACTGGAAGGTTGGGAAGGAGGTAGGTGCTGAGGGCGCACAGGTGACAGGAACTGAGACAGAAGATTCCAGGCGGAGCATCCCAAGGTCCAAGTCCTCAGCCCACTACTGCCCGCTGCGGCTTTGGAGAGTGGTGGGCAAAGGCCCTTCTCCCCCCAGCCACATTCTGGGGTACTGTGCCCAGATTACTGAGGTGCTAGGTTCAAACCTGCCCCAGGGACAGGGTGGCTGCCGACAAGAGCTCTGGGGCCAGGAGACCGCCACCCCGTGGGAGGGGCAGGGGCGCTATGGGAGGGAGCCTCACCCTGGCACGGGTGCTGTGGAAGCAGGAGCGGCTGCATCCTGTACGTGACAGGACTCAGCTGGAGCCCACTGGCTGGCTGCCCGCCAACCTTACCCAGCCCGGCCCTTCTGGGCTGTTAAAGGCTGCTGCCTCCCCATCTCCAGCACCCACAGCCCTGCAACCGGCAGGAGGAGCAACCTGCCTTCTGGAATCTGGACACATGCAAACGAGAAATGCAGAAAAGAAATTTATTACCAAGCTATAAATTAGAGGCGGCGGGGTGGGCGGGGGGAGCCGAGCAGTCACGTATGGGGCATCTGCCCTTTTTCTCTGTCCTCCTGGGCCTGGATTTTGAGTTCCTCATCCAGGCGCTCCTTTGCGCGGACCACCTAGTGGGTCACGGATAATCAGGCCGGGAGGCCAAGCCTCCGCCCCATACCCCTTGCCCACATGGGATGGCCTATTCCCATCAGCCCAGGTCCATTTTTTGAAGGGCAGTGGGTGGATACCAATGCTTCCTTCAGTGGCACCCCAGGGTCGGGGTGGCCTGGGGAGACAGAGCTGGGCTGCAGGGCCCAGCGCATGCTGTGACCTCTGTGAGCTGAGAGCTGTTTCTAGCACCCCACCCACGGGGGCTCCTGCTCCTTCGAAGTCCCAGCTGCTGGGAGGGAGGGCTCTATCTGGGGTGACACAGCCTGAGTGGCTGGACCCCGCAAAGCTGAAGCAGTCAGAGGGGTGGCAGTTCAGGGGGCCTCCCTGAGGCTGGGGCACCATGGGAAAGCCTGGCACAGTTTTCTGTGTGCCAAGCCCTTAGCTGGCCAGCTCCCCCAACTAGGAATTGAGCCCCAGGTGAGAAGAAGGGGTCCCATGACTTCATTCCTCCCAGAATCAAAGACCACTCACCTTTGACTGCAGGTAGAAGGAGCCACCCACGGATTTATCATTCACCTTAAATAAGTGTTCATAGTCCTGCAGAGGAGAGGGGACGGGTGAGAGGGCTGCAGACTGCAGGCAAGAGATGTTGGGCAGGCTATGTGGGGCCACGTGAGAGAGGCAACAGGACTCCTCTCCACCCTGTGTGCCACACCCAGCTGTTGTGGCCACTGAGAGGCAGAGATGGGGACGGGTACCCTGGAGGGCAACTGAGCTGCTACTGGAAGGCACTCTTTGTCTCTAGACTGTCCTGCCTCAGGCCTAAAACTTCACGAGCAACAGTGGCTCCCGAAAGTTGGAGTCCGAGCTGGGTGCAGCTGCAGCCTCCACATCGGACCTCCCTGGCCAGGCCTCCCTTCACTCTTCCCACCCTGGCAGCCTCTCCCTCTCAAACTTTGGGGTGGCCCAGTGGCCTCACCTTCTGGACCTCCTCAGGGCTCAGCTTGGACACGTTGAGAATCTGCTGTGCCTCCTGGAGGCTGAGGCCGGAGAGGTTGGAAGCGGCTGCAGACCGGTGTCCAGCGCGTCCTCGGGCATCAGCTGCGGCCCGGCTGGCTGTGTGGACATGTGGGTGATCGCTCAGTCCTCAGCAGCCCACACTTCACCCTGGGCCTTCCGAGTTGGTGGCTCACCCCTGCCACCAGCACAGGATGAGAGACACAGGGACAGGTGGCTAGGAGCTGCCTCTTCTCCAGGAGTGGTTTCCTTTTTAGGGGGTAGAGGCTGGGAAAGTGAGGACAGACGTGCCTCACTGGAGGGTAAGGGCAGGATCTGACCGCTAATCCTGGCTCCTGGTCCCCAACCTAGACCATGAGATGACCCTGTCCCCCAACCCCCATATCCCAGGGGAACAGCAAATTGGGGAGCTTTAGGCTACGATGGAGACTGTATAGTGGGGCTGCGGGCATGAGAGGGCTCTGCAGGGGCCCAGCTGCCCACCTGTCACCTAGACCACCAAAGCCACTGCCTTGGGTGACCTCTCCCCTTTCAGTGACCCCAGAACCTAGAATCAGGAGCTGCTAAACTTTTCCTAAAGGCTCAGAGAGTAGCTATTTTAGGCTTTGCGGGCTAATGAGCCTACACTGGAACCATTCAACTCTGCCTTGAAAGCAGCCTGTCGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAAAATGATGAAAACCTGTAAAATACAAAATTACTAAAAATACAAAAATCAGCTGGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTGGAGAGGCTGAGGCAGGAGCATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACACAGTGAGACTCCGTCTCAAAAGAAAACAAAAGGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGTACTTCAGGAGGCCGAGGTGGGCATATCACGTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACTATTGCACTCCAGCCTGGGCAACAAGAGCGAAAACTCCGTCTCAAAAAAAAAAGATTTATTTACAAAACCAGGGCCGGGCGCTGTGGCTCACACCTGTAATCCCAGCACTTTGAGGCAGGCGGATCACCTGAAGTCAGGCGTTCCAGACCAGCATGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGTATGGTGTCGGGTGCTTGTATTCCCAGCTACTCAGGAGGCTGAGGGAGGAGAATCACTTGAACCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCCCCACTGCATTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCCAAAAAAAGAAAAAACAAGTTTACAAAATCAGGTATCCAGATGGGCCAGTGTGCCAGCTCCTGCCCTGGATGCTC
Task1_train_22298
With a mutation on Chromosome 16 in gene CORO7-PAM16, PAM16 (CORO7-PAM16 readthrough| presequence translocase associated motor 16), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Autosomal recessive spondylometaphyseal dysplasia, Megarbane type
GACGAGCTCAGCATGCGACTCGGTGACGGACCAGGCTCGGCAGGGCCGGTGTACTTTTTGTGGTTGTCATTGGTGTGTTGTTGCACATTCCAGGACGTCAGTATTTTAACAGGTTCTAAGTGCCTTTCTATCGTAGCTTATGTTTTCCTCCTCTTGGCTCCATTGCTGTTAGCATAGAGTTTTAAAAAAAGAGATAAGCTAATGACTATAACAATATATTCCTCCATGGGAGAGGAAGTTTATAAAGAAACAATAAAAGTGAGTTGCAAAGATGGCTTGTATGTCGTGGATGTGCCAGGAACCCGGCCCTGACATGAGGCCACCACTGCCCTGAGCCCCTGCAGGCCTGATCCGGGCTTTCTCCCCGACCCTGCAGGTGCCCCTCCCTCTCAATCTGCCGCTTAGAGCAGGAACTGGAAGGTTGGGAAGGAGGTAGGTGCTGAGGGCGCACAGGTGACAGGAACTGAGACAGAAGATTCCAGGCGGAGCATCCCAAGGTCCAAGTCCTCAGCCCACTACTGCCCGCTGCGGCTTTGGAGAGTGGTGGGCAAAGGCCCTTCTCCCCCCAGCCACATTCTGGGGTACTGTGCCCAGATTACTGAGGTGCTAGGTTCAAACCTGCCCCAGGGACAGGGTGGCTGCCGACAAGAGCTCTGGGGCCAGGAGACCGCCACCCCGTGGGAGGGGCAGGGGCGCTATGGGAGGGAGCCTCACCCTGGCACGGGTGCTGTGGAAGCAGGAGCGGCTGCATCCTGTACGTGACAGGACTCAGCTGGAGCCCACTGGCTGGCTGCCCGCCAACCTTACCCAGCCCGGCCCTTCTGGGCTGTTAAAGGCTGCTGCCTCCCCATCTCCAGCACCCACAGCCCTGCAACCGGCAGGAGGAGCAACCTGCCTTCTGGAATCTGGACACATGCAAACGAGAAATGCAGAAAAGAAATTTATTACCAAGCTATAAATTAGAGGCGGCGGGGTGGGCGGGGGGAGCCGAGCAGTCACGTATGGGGCATCTGCCCTTTTTCTCTGTCCTCCTGGGCCTGGATTTTGAGTTCCTCATCCAGGCGCTCCTTTGCGCGGACCACCTAGTGGGTCACGGATAATCAGGCCGGGAGGCCAAGCCTCCGCCCCATACCCCTTGCCCACATGGGATGGCCTATTCCCATCAGCCCAGGTCCATTTTTTGAAGGGCAGTGGGTGGATACCAATGCTTCCTTCAGTGGCACCCCAGGGTCGGGGTGGCCTGGGGAGACAGAGCTGGGCTGCAGGGCCCAGCGCATGCTGTGACCTCTGTGAGCTGAGAGCTGTTTCTAGCACCCCACCCACGGGGGCTCCTGCTCCTTCGAAGTCCCAGCTGCTGGGAGGGAGGGCTCTATCTGGGGTGACACAGCCTGAGTGGCTGGACCCCGCAAAGCTGAAGCAGTCAGAGGGGTGGCAGTTCAGGGGGCCTCCCTGAGGCTGGGGCACCATGGGAAAGCCTGGCACAGTTTTCTGTGTGCCAAGCCCTTAGCTGGCCAGCTCCCCCAACTAGGAATTGAGCCCCAGGTGAGAAGAAGGGGTCCCATGACTTCATTCCTCCCAGAATCAAAGACCACTCACCTTTGACTGCAGGTAGAAGGAGCCACCCACGGATTTATCATTCACCTTAAATAAGTGTTCATAGTTCTGCAGAGGAGAGGGGACGGGTGAGAGGGCTGCAGACTGCAGGCAAGAGATGTTGGGCAGGCTATGTGGGGCCACGTGAGAGAGGCAACAGGACTCCTCTCCACCCTGTGTGCCACACCCAGCTGTTGTGGCCACTGAGAGGCAGAGATGGGGACGGGTACCCTGGAGGGCAACTGAGCTGCTACTGGAAGGCACTCTTTGTCTCTAGACTGTCCTGCCTCAGGCCTAAAACTTCACGAGCAACAGTGGCTCCCGAAAGTTGGAGTCCGAGCTGGGTGCAGCTGCAGCCTCCACATCGGACCTCCCTGGCCAGGCCTCCCTTCACTCTTCCCACCCTGGCAGCCTCTCCCTCTCAAACTTTGGGGTGGCCCAGTGGCCTCACCTTCTGGACCTCCTCAGGGCTCAGCTTGGACACGTTGAGAATCTGCTGTGCCTCCTGGAGGCTGAGGCCGGAGAGGTTGGAAGCGGCTGCAGACCGGTGTCCAGCGCGTCCTCGGGCATCAGCTGCGGCCCGGCTGGCTGTGTGGACATGTGGGTGATCGCTCAGTCCTCAGCAGCCCACACTTCACCCTGGGCCTTCCGAGTTGGTGGCTCACCCCTGCCACCAGCACAGGATGAGAGACACAGGGACAGGTGGCTAGGAGCTGCCTCTTCTCCAGGAGTGGTTTCCTTTTTAGGGGGTAGAGGCTGGGAAAGTGAGGACAGACGTGCCTCACTGGAGGGTAAGGGCAGGATCTGACCGCTAATCCTGGCTCCTGGTCCCCAACCTAGACCATGAGATGACCCTGTCCCCCAACCCCCATATCCCAGGGGAACAGCAAATTGGGGAGCTTTAGGCTACGATGGAGACTGTATAGTGGGGCTGCGGGCATGAGAGGGCTCTGCAGGGGCCCAGCTGCCCACCTGTCACCTAGACCACCAAAGCCACTGCCTTGGGTGACCTCTCCCCTTTCAGTGACCCCAGAACCTAGAATCAGGAGCTGCTAAACTTTTCCTAAAGGCTCAGAGAGTAGCTATTTTAGGCTTTGCGGGCTAATGAGCCTACACTGGAACCATTCAACTCTGCCTTGAAAGCAGCCTGTCGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAAAATGATGAAAACCTGTAAAATACAAAATTACTAAAAATACAAAAATCAGCTGGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTGGAGAGGCTGAGGCAGGAGCATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACACAGTGAGACTCCGTCTCAAAAGAAAACAAAAGGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGTACTTCAGGAGGCCGAGGTGGGCATATCACGTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACTATTGCACTCCAGCCTGGGCAACAAGAGCGAAAACTCCGTCTCAAAAAAAAAAGATTTATTTACAAAACCAGGGCCGGGCGCTGTGGCTCACACCTGTAATCCCAGCACTTTGAGGCAGGCGGATCACCTGAAGTCAGGCGTTCCAGACCAGCATGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGTATGGTGTCGGGTGCTTGTATTCCCAGCTACTCAGGAGGCTGAGGGAGGAGAATCACTTGAACCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCCCCACTGCATTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCCAAAAAAAGAAAAAACAAGTTTACAAAATCAGGTATCCAGATGGGCCAGTGTGCCAGCTCCTGCCCTGGATGCTCTTGCTAACCAGGTACCACTGAAGAATGCCCCGGTCTGGCATCACCCCCCACCATGGGAAGTGCCTCAGGCCACGCACACTTCAGAACCGCCAGGCCTGAGGTGCCCATGGCTACGGGGAAAATCTGACCTGGAGAGGAACTCCCAGCCCACAGGGGAGACGGACCCATGCTTACCTGCAAACTCCTGCCGCAAGGCCCGTGCAAAGGCCCTGCCCACCACCTGCACGCCCATCACAATGATCTGGGCCAGGTACTTGGCCTGTGGGCAAAGCAGGCACCCGGTTAGCAGGCCACTCCCTGTGGGCCCACAGAGATGGGCCCTGGAAACGGCTGCCGAGGGGCAAGGCTCCCGGAGACCCGAGGTCATGAAGCACAGAGCTGCAGCCC
GACGAGCTCAGCATGCGACTCGGTGACGGACCAGGCTCGGCAGGGCCGGTGTACTTTTTGTGGTTGTCATTGGTGTGTTGTTGCACATTCCAGGACGTCAGTATTTTAACAGGTTCTAAGTGCCTTTCTATCGTAGCTTATGTTTTCCTCCTCTTGGCTCCATTGCTGTTAGCATAGAGTTTTAAAAAAAGAGATAAGCTAATGACTATAACAATATATTCCTCCATGGGAGAGGAAGTTTATAAAGAAACAATAAAAGTGAGTTGCAAAGATGGCTTGTATGTCGTGGATGTGCCAGGAACCCGGCCCTGACATGAGGCCACCACTGCCCTGAGCCCCTGCAGGCCTGATCCGGGCTTTCTCCCCGACCCTGCAGGTGCCCCTCCCTCTCAATCTGCCGCTTAGAGCAGGAACTGGAAGGTTGGGAAGGAGGTAGGTGCTGAGGGCGCACAGGTGACAGGAACTGAGACAGAAGATTCCAGGCGGAGCATCCCAAGGTCCAAGTCCTCAGCCCACTACTGCCCGCTGCGGCTTTGGAGAGTGGTGGGCAAAGGCCCTTCTCCCCCCAGCCACATTCTGGGGTACTGTGCCCAGATTACTGAGGTGCTAGGTTCAAACCTGCCCCAGGGACAGGGTGGCTGCCGACAAGAGCTCTGGGGCCAGGAGACCGCCACCCCGTGGGAGGGGCAGGGGCGCTATGGGAGGGAGCCTCACCCTGGCACGGGTGCTGTGGAAGCAGGAGCGGCTGCATCCTGTACGTGACAGGACTCAGCTGGAGCCCACTGGCTGGCTGCCCGCCAACCTTACCCAGCCCGGCCCTTCTGGGCTGTTAAAGGCTGCTGCCTCCCCATCTCCAGCACCCACAGCCCTGCAACCGGCAGGAGGAGCAACCTGCCTTCTGGAATCTGGACACATGCAAACGAGAAATGCAGAAAAGAAATTTATTACCAAGCTATAAATTAGAGGCGGCGGGGTGGGCGGGGGGAGCCGAGCAGTCACGTATGGGGCATCTGCCCTTTTTCTCTGTCCTCCTGGGCCTGGATTTTGAGTTCCTCATCCAGGCGCTCCTTTGCGCGGACCACCTAGTGGGTCACGGATAATCAGGCCGGGAGGCCAAGCCTCCGCCCCATACCCCTTGCCCACATGGGATGGCCTATTCCCATCAGCCCAGGTCCATTTTTTGAAGGGCAGTGGGTGGATACCAATGCTTCCTTCAGTGGCACCCCAGGGTCGGGGTGGCCTGGGGAGACAGAGCTGGGCTGCAGGGCCCAGCGCATGCTGTGACCTCTGTGAGCTGAGAGCTGTTTCTAGCACCCCACCCACGGGGGCTCCTGCTCCTTCGAAGTCCCAGCTGCTGGGAGGGAGGGCTCTATCTGGGGTGACACAGCCTGAGTGGCTGGACCCCGCAAAGCTGAAGCAGTCAGAGGGGTGGCAGTTCAGGGGGCCTCCCTGAGGCTGGGGCACCATGGGAAAGCCTGGCACAGTTTTCTGTGTGCCAAGCCCTTAGCTGGCCAGCTCCCCCAACTAGGAATTGAGCCCCAGGTGAGAAGAAGGGGTCCCATGACTTCATTCCTCCCAGAATCAAAGACCACTCACCTTTGACTGCAGGTAGAAGGAGCCACCCACGGATTTATCATTCACCTTAAATAAGTGTTCATAGTTCTGCAGAGGAGAGGGGACGGGTGAGAGGGCTGCAGACTGCAGGCAAGAGATGTTGGGCAGGCTATGTGGGGCCACGTGAGAGAGGCAACAGGACTCCTCTCCACCCTGTGTGCCACACCCAGCTGTTGTGGCCACTGAGAGGCAGAGATGGGGACGGGTACCCTGGAGGGCAACTGAGCTGCTACTGGAAGGCACTCTTTGTCTCTAGACTGTCCTGCCTCAGGCCTAAAACTTCACGAGCAACAGTGGCTCCCGAAAGTTGGAGTCCGAGCTGGGTGCAGCTGCAGCCTCCACATCGGACCTCCCTGGCCAGGCCTCCCTTCACTCTTCCCACCCTGGCAGCCTCTCCCTCTCAAACTTTGGGGTGGCCCAGTGGCCTCACCTTCGGGACCTCCTCAGGGCTCAGCTTGGACACGTTGAGAATCTGCTGTGCCTCCTGGAGGCTGAGGCCGGAGAGGTTGGAAGCGGCTGCAGACCGGTGTCCAGCGCGTCCTCGGGCATCAGCTGCGGCCCGGCTGGCTGTGTGGACATGTGGGTGATCGCTCAGTCCTCAGCAGCCCACACTTCACCCTGGGCCTTCCGAGTTGGTGGCTCACCCCTGCCACCAGCACAGGATGAGAGACACAGGGACAGGTGGCTAGGAGCTGCCTCTTCTCCAGGAGTGGTTTCCTTTTTAGGGGGTAGAGGCTGGGAAAGTGAGGACAGACGTGCCTCACTGGAGGGTAAGGGCAGGATCTGACCGCTAATCCTGGCTCCTGGTCCCCAACCTAGACCATGAGATGACCCTGTCCCCCAACCCCCATATCCCAGGGGAACAGCAAATTGGGGAGCTTTAGGCTACGATGGAGACTGTATAGTGGGGCTGCGGGCATGAGAGGGCTCTGCAGGGGCCCAGCTGCCCACCTGTCACCTAGACCACCAAAGCCACTGCCTTGGGTGACCTCTCCCCTTTCAGTGACCCCAGAACCTAGAATCAGGAGCTGCTAAACTTTTCCTAAAGGCTCAGAGAGTAGCTATTTTAGGCTTTGCGGGCTAATGAGCCTACACTGGAACCATTCAACTCTGCCTTGAAAGCAGCCTGTCGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAAAATGATGAAAACCTGTAAAATACAAAATTACTAAAAATACAAAAATCAGCTGGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTGGAGAGGCTGAGGCAGGAGCATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACACAGTGAGACTCCGTCTCAAAAGAAAACAAAAGGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGTACTTCAGGAGGCCGAGGTGGGCATATCACGTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACTATTGCACTCCAGCCTGGGCAACAAGAGCGAAAACTCCGTCTCAAAAAAAAAAGATTTATTTACAAAACCAGGGCCGGGCGCTGTGGCTCACACCTGTAATCCCAGCACTTTGAGGCAGGCGGATCACCTGAAGTCAGGCGTTCCAGACCAGCATGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGTATGGTGTCGGGTGCTTGTATTCCCAGCTACTCAGGAGGCTGAGGGAGGAGAATCACTTGAACCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCCCCACTGCATTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCCAAAAAAAGAAAAAACAAGTTTACAAAATCAGGTATCCAGATGGGCCAGTGTGCCAGCTCCTGCCCTGGATGCTCTTGCTAACCAGGTACCACTGAAGAATGCCCCGGTCTGGCATCACCCCCCACCATGGGAAGTGCCTCAGGCCACGCACACTTCAGAACCGCCAGGCCTGAGGTGCCCATGGCTACGGGGAAAATCTGACCTGGAGAGGAACTCCCAGCCCACAGGGGAGACGGACCCATGCTTACCTGCAAACTCCTGCCGCAAGGCCCGTGCAAAGGCCCTGCCCACCACCTGCACGCCCATCACAATGATCTGGGCCAGGTACTTGGCCTGTGGGCAAAGCAGGCACCCGGTTAGCAGGCCACTCCCTGTGGGCCCACAGAGATGGGCCCTGGAAACGGCTGCCGAGGGGCAAGGCTCCCGGAGACCCGAGGTCATGAAGCACAGAGCTGCAGCCC
Task1_train_22299
With a mutation on Chromosome 16 in gene ALG1 (ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; ALG1-congenital disorder of glycosylation
GTTTCCCGTGCCGTTCTCGTGATAGTGAATAAGCCTCACGAGACCTGATTGTTTTATAAAAAGGAGTTTTCCTGCAGAAGCTCTCTTTTTGCCTGCTGCCATCTATGTAAGAGGTGACTTGCTCCTCCTTGCCTTCTGCCATGATGGTGAGGCCTTCCCAGCCATGTGGACCTGTAAGTCCATGAAACCTCTTTCTTATGTAAAGTGCTCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAAACGGACTAATACAGGCCATCGCAGAGACACACATTAAACTCTCACTATGGCTACTTTGGGAGGTGAAATTGGAGGGTCACTGTGGAAATTTCCTTTCTAGCCATTGATACTTAAGCAAAATCATGATGGTGTTTACTTCCTTGTTTGTCCTTCCCCCTCTCTACCTTTTAAATGTTTTATTAAGTGTGATGTACACCCTGGAAAATGGGCAGGTAATCTGCTGCTTGAGGTACCGCCCCAAATGCAGCACACCCACATTACCAGCACCAGATCCAGAAGCAGAACCCACCAGCCCCTAACTTCTAACAGCGAGGACTGGTTTTTATTTACATAGACGGAACTCTACAATTCGTACTCGTCAGCATCTGGCTCCTTTATCAATGTTAGGATGAAATTTATCCAAATTCTTGTGTCACTATATTTTGAAATTATCTTTGAATCCTGAAGAGAGTTCTTAGATCCCAATACAGTAACAGCTTTACTTTAGTCGGGGAAATACACTGGTGTGTAGGGAATCTGGTGTATGTGCGTGTGTCCTACTACTACTAATTCTTGGCCCCGAGGGGCTCCTGGGGGTTCCCCGGGCCCCTGTTAGGGAACCGCGTCCACTTCTCGCCCTCTCGGCCCACTTCGGAGGCTCGGTCTGCGGCTGCGCACAGCGCGAGGAAGCGCGGTCACGTGACTGCTGCGGGCCAGCCAAGATGGCGGCCTCATGCTTGGTCCTGCTGGCGCTGTGTCTGCTGCTGCCGCTGCTGCTGCTGGGAGGATGGAAGCGCTGGCGCCGGGGGCGGGCGGCCCGGCATGTAGTAGCGGTGGTGCTGGGCGACGTGGGCCGCAGCCCCCGTATGCAGTACCACGCGCTGTCGTTGGCCATGCACGGCTTCTCGGTGACCCTCCTGGGGTTCTGCAGTGAGTGGCCAAGGGTCTGGGAGGGACGATGCTCTCTCAGCCGTTGATCCTCGGTTCTAACCGCCCCGGGGAGTCGAGGCGGAAGTGCTCCTTTAGTCGCCGCCTTTGGGCAGCTCTCCGAGATTAGACGAGCGGTTCTGCCCCAGCCTTTCCTGGGTGGGTCTCTAGGTATAGCCGGCGTTAATCTTGCCACGTGTCAGAAGTGTGTTAAGTGAATCCATTGCGTGGTCTCACGTAATTCTCCTAGTAAGTGGAACCCAGGTGCGTGGAACTCCAGGGCTAGTGCTGGTAGCTACGTCCCTGTGCAGCTACCCTTGTCAGGCTATGTCTGAGCTGACAGGATATTTCATTCCTCATCCCTCAACGCAGAGCTCTGCAGACAGATGTTTTCATTTGTTCTTCATGTCCAGCTTTTCCCCACAGTGTGCAGGGCAGCGGTGTCTGCTCCCTCATTATTCTCCACGTTGGTATCTTGAGAGGGTAGCTCAACCCCATCTCAGGAAGAAGTGGGAACAGCACTAGTTGCCTTTAATCCCTGTTTAGAATCTGCTATCCTAGGGTGATGGGGTAGAGTGGGACTTCCTAGGGATGGCTCTGTGGTGGGAAAATTCCACTATCCAGACAATCTAGATTAGTTTAATTGAGCACCTACTGTTTGCCAGGCATCATGTTAAGTGAAGGTAGGTAAGATTCAGGCCCTATCTCTGTGTGCCTCCTAGAGCAATCTGAACAAGAATTGGCCGCATTCTCTGTTCTGGCTAGTGAGGAGCAGAGAGAGGTTTTGAAATATCTTACTTTCCAAAACACTGTCCGTGATTCAGCCTGAGTTGGGAGATTATCTGACTTTAGATTGCTGCTTCTGGTACATTAAAGGGATCATTCTCATTTTTCAGACTCCAAACCCCATGATGAGCTCTTGCAGAACAACAGAATTCAGATTGTGGGGTTGACAGAACTTCAGAGTCTTGCAGGTAGGATGCCGTCAACTCCAGAATCCTCTGAATCCATGGGCTGGGGGCAGGGGGTGTTCGTTTGAAAAGCCGTGCAGATTGCCAGACGCTCCTTTGGTAGTCACAGGTGTTTTCTGACTTGCAGTTGGGCCCCGAGTTTTCCAGTACGGAGTCAAAGTTGTACTTCAGGCTATGTACTTGCTGTGGAAGTTGATGTGGAGGGAGCCAGGTGCCTATATCTTTCTCCAGGTGTGTATCAGCCTCTGCCTCCCTCTGTGAGAGCCATGTTAGCAGTTTACTTTCCAGCACAAATTGGTACTATATTGCATATTCATATGTGTGTGTGTTGTGTGTATGGGCGTTTAAAGACATGAGTAGGAGCCTATGGTATGTGTCTATTTATGGCACCTATCCATGCTCTCTGTGTCATTACAGATAGTCTTACATTGTACTGACTGTGTATCAAGTGTTTTCCATGTATTAACTCATTTAGTCCTCACAGTTACCCTAAGAAATATTGCATGTAGGTAATACAAGAACCTGTTTCTTAAGGTTGTTCTCATTTAGATGAGAAAACCTAGACTGAGAAAGGCTCTGTAAGTAGCCCATCGCCATACAGCTAGGAAGTGGTGGAATCAGGATTTGAACGTAGGTCGTCAGTGTGGTTCTATAGTATACACACGCACGCATACGCGCGCACACACAAACACACATATATTTTTTTGAGACAGAGTTTCGCTCTTGCCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTGCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTACGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAGGTAATCCGCCCCCCTCGGCGTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACCGCGCCTGGCCTATCGTTATACTTTTAATCCCTTCCCTTGATCACTTTTTCTTTAAAAAATTTTTCTTTCTTTTCTAGCTGAAGGAAGAATACTTTTTTTTTTAAATCAATTTTTAATATATAGAAGCACCTTCCTCTTTTATTTATTTATTTTTATTTTTCCTGAGATGGAGTCTCTGTTGCTCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCACCTTCTACCTCCCGTGTTCAAGTGATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTTGTAATTTTTTTTAGTAGAGATGGGGTTTCGCTATGCTGGCCAGGATGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGATTGCTGGGATTACAGGCATGAACCATCGTGACCCACACCTTCCTCTTTTAATAGGCAGCCTTGAATTCCAATATGTGATGTACTATACTGCATGTATTTAGTCTCATGTTAATGGATACTCAGATTCTTCCTGATTTTGTTTTTACTTTTACAAATAGTGTGGCTCCAAGCACAGCGAGCATATGCCTTTTGTATAAGTCCAGTTTCTTTCTTAGGGTAACTTCCCAGCAGTGGAATTGTGTAGTCAAAGTTGATGCATTTTAAAAATGTGTATGTTACTGGATAGCTTTAGAGTAAGGTTGGGTCAGTTTGGCCCCCGCTGAGTGGGGGTACCTCTTCTCCCCCATGCTTACCATCACCAGCTGTTGTTAGACCTTTTTAGAATTTGCATTCCAACAGGTGAAAAATGCCATCTCTTTGTTCTGTTTTTTGCCTCCTTGATTATTGATGATCTTGGACTTTTCAGGTTGGTTCTGTTTGTTTGTTTGGTTTTTGTTTGTTTGTTTTAGAGGCAGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCATAGCTTAACTGCAGCCTCATCCTCCTGGGCT
GTTTCCCGTGCCGTTCTCGTGATAGTGAATAAGCCTCACGAGACCTGATTGTTTTATAAAAAGGAGTTTTCCTGCAGAAGCTCTCTTTTTGCCTGCTGCCATCTATGTAAGAGGTGACTTGCTCCTCCTTGCCTTCTGCCATGATGGTGAGGCCTTCCCAGCCATGTGGACCTGTAAGTCCATGAAACCTCTTTCTTATGTAAAGTGCTCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAAACGGACTAATACAGGCCATCGCAGAGACACACATTAAACTCTCACTATGGCTACTTTGGGAGGTGAAATTGGAGGGTCACTGTGGAAATTTCCTTTCTAGCCATTGATACTTAAGCAAAATCATGATGGTGTTTACTTCCTTGTTTGTCCTTCCCCCTCTCTACCTTTTAAATGTTTTATTAAGTGTGATGTACACCCTGGAAAATGGGCAGGTAATCTGCTGCTTGAGGTACCGCCCCAAATGCAGCACACCCACATTACCAGCACCAGATCCAGAAGCAGAACCCACCAGCCCCTAACTTCTAACAGCGAGGACTGGTTTTTATTTACATAGACGGAACTCTACAATTCGTACTCGTCAGCATCTGGCTCCTTTATCAATGTTAGGATGAAATTTATCCAAATTCTTGTGTCACTATATTTTGAAATTATCTTTGAATCCTGAAGAGAGTTCTTAGATCCCAATACAGTAACAGCTTTACTTTAGTCGGGGAAATACACTGGTGTGTAGGGAATCTGGTGTATGTGCGTGTGTCCTACTACTACTAATTCTTGGCCCCGAGGGGCTCCTGGGGGTTCCCCGGGCCCCTGTTAGGGAACCGCGTCCACTTCTCGCCCTCTCGGCCCACTTCGGAGGCTCGGTCTGCGGCTGCGCACAGCGCGAGGAAGCGCGGTCACGTGACTGCTGCGGGCCAGCCAAGATGGCGGCCTCATGCTTGGTCCTGCTGGCGCTGTGTCTGCTGCTGCCGCTGCTGCTGCTGGGAGGATGGAAGCGCTGGCGCCGGGGGCGGGCGGCCCGGCATGTAGTAGCGGTGGTGCTGGGCGACGTGGGCCGCAGCCCCCGTATGCAGTACCACGCGCTGTCGTTGGCCATGCACGGCTTCTCGGTGACCCTCCTGGGGTTCTGCAGTGAGTGGCCAAGGGTCTGGGAGGGACGATGCTCTCTCAGCCGTTGATCCTCGGTTCTAACCGCCCCGGGGAGTCGAGGCGGAAGTGCTCCTTTAGTCGCCGCCTTTGGGCAGCTCTCCGAGATTAGACGAGCGGTTCTGCCCCAGCCTTTCCTGGGTGGGTCTCTAGGTATAGCCGGCGTTAATCTTGCCACGTGTCAGAAGTGTGTTAAGTGAATCCATTGCGTGGTCTCACGTAATTCTCCTAGTAAGTGGAACCCAGGTGCGTGGAACTCCAGGGCTAGTGCTGGTAGCTACGTCCCTGTGCAGCTACCCTTGTCAGGCTATGTCTGAGCTGACAGGATATTTCATTCCTCATCCCTCAACGCAGAGCTCTGCAGACAGATGTTTTCATTTGTTCTTCATGTCCAGCTTTTCCCCACAGTGTGCAGGGCAGCGGTGTCTGCTCCCTCATTATTCTCCACGTTGGTATCTTGAGAGGGTAGCTCAACCCCATCTCAGGAAGAAGTGGGAACAGCACTAGTTGCCTTTAATCCCTGTTTAGAATCTGCTATCCTAGGGTGATGGGGTAGAGTGGGACTTCCTAGGGATGGCTCTGTGGTGGGAAAATTCCACTATCCAGACAATCTAGATTAGTTTAATTGAGCACCTACTGTTTGCCAGGCATCATGTTAAGTGAAGGTAGGTAAGATTCAGGCCCTATCTCTGTGTGCCTCCTAGAGCAATCTGAACAAGAATTGGCCGCATTCTCTGTTCTGGCTAGTGAGGAGCAGAGAGAGGTTTTGAAATATCTTACTTTCCAAAACACTGTCCGTGATTCAGCCTGAGTTGGGAGATTATCTGACTTTAGATTGCTGCTTCTGGTACATTAAAGGGATCATTCTCATTTTTCAGACTTCAAACCCCATGATGAGCTCTTGCAGAACAACAGAATTCAGATTGTGGGGTTGACAGAACTTCAGAGTCTTGCAGGTAGGATGCCGTCAACTCCAGAATCCTCTGAATCCATGGGCTGGGGGCAGGGGGTGTTCGTTTGAAAAGCCGTGCAGATTGCCAGACGCTCCTTTGGTAGTCACAGGTGTTTTCTGACTTGCAGTTGGGCCCCGAGTTTTCCAGTACGGAGTCAAAGTTGTACTTCAGGCTATGTACTTGCTGTGGAAGTTGATGTGGAGGGAGCCAGGTGCCTATATCTTTCTCCAGGTGTGTATCAGCCTCTGCCTCCCTCTGTGAGAGCCATGTTAGCAGTTTACTTTCCAGCACAAATTGGTACTATATTGCATATTCATATGTGTGTGTGTTGTGTGTATGGGCGTTTAAAGACATGAGTAGGAGCCTATGGTATGTGTCTATTTATGGCACCTATCCATGCTCTCTGTGTCATTACAGATAGTCTTACATTGTACTGACTGTGTATCAAGTGTTTTCCATGTATTAACTCATTTAGTCCTCACAGTTACCCTAAGAAATATTGCATGTAGGTAATACAAGAACCTGTTTCTTAAGGTTGTTCTCATTTAGATGAGAAAACCTAGACTGAGAAAGGCTCTGTAAGTAGCCCATCGCCATACAGCTAGGAAGTGGTGGAATCAGGATTTGAACGTAGGTCGTCAGTGTGGTTCTATAGTATACACACGCACGCATACGCGCGCACACACAAACACACATATATTTTTTTGAGACAGAGTTTCGCTCTTGCCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTGCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAAATGGGGTTACGCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAGGTAATCCGCCCCCCTCGGCGTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACCGCGCCTGGCCTATCGTTATACTTTTAATCCCTTCCCTTGATCACTTTTTCTTTAAAAAATTTTTCTTTCTTTTCTAGCTGAAGGAAGAATACTTTTTTTTTTAAATCAATTTTTAATATATAGAAGCACCTTCCTCTTTTATTTATTTATTTTTATTTTTCCTGAGATGGAGTCTCTGTTGCTCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCACCTTCTACCTCCCGTGTTCAAGTGATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTTGTAATTTTTTTTAGTAGAGATGGGGTTTCGCTATGCTGGCCAGGATGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGATTGCTGGGATTACAGGCATGAACCATCGTGACCCACACCTTCCTCTTTTAATAGGCAGCCTTGAATTCCAATATGTGATGTACTATACTGCATGTATTTAGTCTCATGTTAATGGATACTCAGATTCTTCCTGATTTTGTTTTTACTTTTACAAATAGTGTGGCTCCAAGCACAGCGAGCATATGCCTTTTGTATAAGTCCAGTTTCTTTCTTAGGGTAACTTCCCAGCAGTGGAATTGTGTAGTCAAAGTTGATGCATTTTAAAAATGTGTATGTTACTGGATAGCTTTAGAGTAAGGTTGGGTCAGTTTGGCCCCCGCTGAGTGGGGGTACCTCTTCTCCCCCATGCTTACCATCACCAGCTGTTGTTAGACCTTTTTAGAATTTGCATTCCAACAGGTGAAAAATGCCATCTCTTTGTTCTGTTTTTTGCCTCCTTGATTATTGATGATCTTGGACTTTTCAGGTTGGTTCTGTTTGTTTGTTTGGTTTTTGTTTGTTTGTTTTAGAGGCAGAGTCTAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCATAGCTTAACTGCAGCCTCATCCTCCTGGGCT